GGDonto

Congenital, Hereditary, and Neonatal Diseases and Abnormalities related to Glycans
- Genetic Diseases, Inborn
  - Metabolism, Inborn Errors
    - Carbohydrate Metabolism, Inborn Errors (synthesis)
      - Pathogenesis
        Genetic disorders of glycan synthesis (traditional nomenclature)
        Defects in N-glycan biosynthesis
        Disorders of N-linked glycosylation - Congenital disorders of glycosylation (CDGs)
        Type I CDGs
        CDG-Ia (GDGDB) [PMM2]
        CDG-Ia, infantile multisystem stage [PMM2]
        CDG-Ia, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
        CDG-Ia, adult stable disability stage [PMM2]
        
        CDG-Ib (GDGDB) [MPI]
        CDG-Ic (GDGDB) [ALG6]
        CDG-Id (GDGDB) [ALG3]
        CDG-Ie (GDGDB) [DPM1]
        CDG-If (GDGDB) [MPDU1]
        CDG-Ig (GDGDB) [ALG12]
        CDG-Ih (GDGDB) [ALG8]
        CDG-Ii (GDGDB) [ALG2]
        CDG-Ij (GDGDB) [DPAGT1]
        CDG-Ik (GDGDB) [ALG1]
        CDG-IL (GDGDB) [ALG9]
        CDG-Im [TMEM15]
        CDG-In [RFT1]
        
        Type II CDGs
        CDG-IIa (GDGDB) [MGAT2]
        CDG-IIb (GDGDB) [GCS1]
        CDG-IIc (GDGDB) [SLC35C1]
        CDG-IId (GDGDB) [B4GALT1]
        CDG-IIe (GDGDB) [COG7]
        CDG-IIf [SLC35A1]
        CDG-IIg [COG1]
        CDG-IIh [COG8]
        CDG-IIi [COG5]
        CDG-IIj [COG4]
        
        Other CDGs
        Oligosaccharyltransferase TUSC3 subunit defect [TUSC3]
        V-ATPase a2 subunit defect [ATP6V0A2]
        
        Other disorders that affect N-glycans
        Congenital dyserythropoietic anaemia, type II (GDGDB) [SEC23B]
        
        Disorders of O-linked glycosylation
        Defects in O-mannose glycans
        Walker-Warburg syndrome (GDGDB) [POMT1,POMT2]
        Muscle-eye-brain disease (GDGDB) [POMGNT1]
        Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
        Muscular dystrophy, limb-girdle, type 2M (GDGDB) [FKTN]
        Cardiomyopathy, dilated, 1X (GDGDB) [FKTN]
        Muscular dystrophy, congenital, type 1C (GDGDB) [FKRP]
        Muscular dystrophy, limb-girdle, type 2I (GDGDB) [FKRP]
        Congenital muscular dystrophy type 1D [LARGE]
        Duchenne muscular dystrophy [DMD]
        Hereditary inclusion body myopathy type 2 [GNE]
        Nonaka myopathy (GDGDB) [GNE]
        
        Defects in O-xylose glycosaminoglycans
        Ehlers-Danlos syndrome, progeroid form [B4GALT7]
        Hereditary multiple exostoses [EXT1,EXT2]
        GAG Sulfation Deficiencies
        Macular corneal dystrophy [CHST6]
        Chondrodysplasias (CDs)
        Spondyloepimetaphyseal dysplasia, pakistani type [PAPSS2]
        Other CDs
        Diastrophic dysplasia [SLC26A2]
        Achondrogenesis type IB [SLC26A2]
        Neonatal osseous dysplasia I [SLC26A2]
        Autosomal recessive multiple epiphyseal dysplasia [SLC26A2]
        
        Schneckenbecken dysplasia [SLC35D1]
        
        Defects in O-GalNAc glycans
        Tn polyagglutination syndrome, somatic (SOMATIC MUTATION) [C1GALT1C1]
        Tumoral calcinosis, hyperphosphatemic, familial [GALNT3]
        
        Defects in O-fucosylglycan synthesis
        Peters-plus syndrome [B3GALTL]
        Spondylocostal dysostosis 3, autosomal recessive [LFNG]
        
        Defects in O-galactosyl glycan biosynthesis
        Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
        Bruck syndrome 2 (GDGDB) [PLOD2]
        Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
        
        Defects in glycolipid synthesis
        Defects in GSL synthesis
        Amish infantile epilepsy syndrome [SIAT9]
        
        Defects in GPI-anchor biosynthesis
        Paroxysmal nocturnal hemoglobinuria, somatic (SOMATIC MUTATION) (GDGDB) [PIGA]
        Glycosylphosphatidylinositol deficiency [PIGM]
        
        Genetic disorders of glycan synthesis (new nomenclature)
        Congenital disorders of glycosylation (CDGs)
        Defects in protein N-glycosylation
        Defects in nucleotide-sugar biosynthesis
        PMM2-CDG (GDGDB) [PMM2]
        PMM2-CDG, infantile multisystem stage [PMM2]
        PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
        PMM2-CDG, adult stable disability stage [PMM2]
        
        MPI-CDG (GDGDB) [MPI]
        PGM1-CDG [PGM1]
        Myasthenia, congenital, with tubular aggregates 1 [GFPT1]
        
        Defects in lipid-linked oligosaccharide biosynthesis
        ALG6-CDG (GDGDB) [ALG6]
        ALG3-CDG (GDGDB) [ALG3]
        ALG12-CDG (GDGDB) [ALG12]
        ALG8-CDG (GDGDB) [ALG8]
        ALG2-CDG (GDGDB) [ALG2]
        DPAGT1-CDG (GDGDB) [DPAGT1]
        ALG1-CDG (GDGDB) [ALG1]
        ALG9-CDG (GDGDB) [ALG9]
        RFT1-CDG [RFT1]
        DPM3-CDG [DPM3]
        ALG11-CDG [ALG11]
        ALG13-CDG [ALG13]
        
        Defects in N-glycosylation
        TMEM165-CDG [TMEM165]
        Defects in oligosaccharyltransferase subunits
        TUSC3-CDG [TUSC3]
        DDOST-CDG [DDOST]
        
        Defects in N-glycan trimming
        GCS1-CDG (GDGDB) [GCS1]
        Mental retardation, autosomal recessive 15 [MAN1B1]
        
        Defect in N-glycan branching
        MGAT2-CDG (GDGDB) [MGAT2]
        
        Defects in protein O-glycosylation
        Defects in O-mannosylglycan synthesis
        POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
        POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
        LARGE-CDG (cong. muscular dystrophy spectrum) [LARGE]
        FKTN-CDG (cong. muscular dystrophy spectrum)
        Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
        Muscular dystrophy, limb-girdle, type 2M (GDGDB) [FKTN]
        Cardiomyopathy, dilated, 1X (GDGDB) [FKTN]
        
        FKRP-CDG (cong. muscular dystrophy spectrum)
        Muscular dystrophy, congenital, type 1C (GDGDB) [FKRP]
        Muscular dystrophy, limb-girdle, type 2I (GDGDB) [FKRP]
        
        Defects in O-xylosylglycan synthesis
        Defective GAG Sulfation
        Macular corneal dystrophy [CHST6]
        Chondrodysplasias (CDs)
        Spondyloepimetaphyseal dysplasia, pakistani type [PAPSS2]
        Diastrophic dysplasia [SLC26A2]
        Achondrogenesis type IB [SLC26A2]
        Neonatal osseous dysplasia I [SLC26A2]
        Autosomal recessive multiple epiphyseal dysplasia [SLC26A2]
        
        Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]
        Ehlers-Danlos syndrome, musculocontractural type [CHST14]
        
        Linkage glycan defects
        B4GALT7-CDG [B4GALT7]
        
        Impaired heparan sulfate synthesis
        EXT1/EXT2-CDG [EXT1,EXT2]
        
        Defect in GAG core biosynthesis
        Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [B3GAT3]
        
        Defect in GAG chain polymerization
        Temtamy preaxial brachydactyly syndrome [CHSY1]
        
        Defects in O-GalNAc glycan biosynthesis
        Tn polyagglutination syndrome, somatic (SOMATIC MUTATION) [C1GALT1C1]
        GALNT3-CDG [GALNT3]
        
        Defects in O-fucosylglycan synthesis
        B3GALTL-CDG [B3GALTL]
        LFNG-CDG [LFNG]
        
        Defects in glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
        Disorders of glycosphingolipid biosynthesis
        ST3GAL5-CDG [SIAT9]
        
        Disorders of glycosylphosphatidylinositol anchor biosynthesis
        Paroxysmal nocturnal hemoglobinuria, somatic (SOMATIC MUTATION) (GDGDB) [PIGA]
        PIGM-CDG [PIGM]
        Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
        Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
        
        Defects in multiple glycosylation and other pathways
        DPM1-CDG (GDGDB) [DPM1]
        MPDU1-CDG (GDGDB) [MPDU1]
        B4GALT1-CDG (GDGDB) [B4GALT1]
        GNE-CDG (hereditary inclusion body myopathy)
        Hereditary inclusion body myopathy type 2 [GNE]
        Nonaka myopathy (GDGDB) [GNE]
        
        Defects in dolichol biosynthesis
        DOLK-CDG [TMEM15]
        SRD5A3-CDG [SRD5A3]
        
        Mental retardation, autosomal recessive 12 [ST3GAL3]
        Defects in nucleotide-sugar transport
        SLC35C1-CDG (GDGDB) [SLC35C1]
        SLC35A1-CDG [SLC35A1]
        SLC35D1-CDG [SLC35D1]
        
        Defects in vesicular transport
        SEC23B-CDG (GDGDB) [SEC23B]
        Defects in COG protein complex
        COG7-CDG (GDGDB) [COG7]
        COG1-CDG [COG1]
        COG8-CDG [COG8]
        COG5-CDG [COG5]
        COG4-CDG [COG4]
        COG6-CDG [COG6]
        
        Defect in V-ATPase a2 subunit
        ATP6VOA2-CDG [ATP6V0A2]
      - Hereditary disorders by systems
        Genetic disorders of glycan synthesis (by systems, signs and symptoms)
        Diseases
        Cardiovascular Diseases
        Cardiovascular Abnormalities
        Heart Defects, Congenital
        PMM2-CDG (GDGDB) [PMM2]
        PMM2-CDG, infantile multisystem stage [PMM2]
        
        COG1-CDG [COG1]
        B3GALTL-CDG [B3GALTL]
        SRD5A3-CDG [SRD5A3]
        Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [B3GAT3]
        Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]
        Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
        Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
        
        Heart Diseases
        Cardiomegaly
        Cardiomyopathy, dilated, 1X (GDGDB) [FKTN]
        
        Heart Failure
        DOLK-CDG [TMEM15]
        Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
        
        Heart Valve Diseases
        Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
        
        Cardiomyopathies
        Endomyocardial Fibrosis
        Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
        
        PMM2-CDG (GDGDB) [PMM2]
        PMM2-CDG, infantile multisystem stage [PMM2]
        
        ALG1-CDG (GDGDB) [ALG1]
        DOLK-CDG [TMEM15]
        Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
        Muscular dystrophy, limb-girdle, type 2M (GDGDB) [FKTN]
        Cardiomyopathy, dilated, 1X (GDGDB) [FKTN]
        Muscular dystrophy, limb-girdle, type 2I (GDGDB) [FKRP]
        Duchenne muscular dystrophy [DMD]
        DPM3-CDG [DPM3]
        PGM1-CDG [PGM1]
        
        Pericardial Effusion
        PMM2-CDG (GDGDB) [PMM2]
        PMM2-CDG, infantile multisystem stage [PMM2]
        PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
        PMM2-CDG, adult stable disability stage [PMM2]
        
        ALG9-CDG (GDGDB) [ALG9]
        
        Arrhythmias, Cardiac
        DOLK-CDG [TMEM15]
        
        ALG12-CDG (GDGDB) [ALG12]
        ALG8-CDG (GDGDB) [ALG8]
        Cardiomyopathy, dilated, 1X (GDGDB) [FKTN]
        Muscular dystrophy, limb-girdle, type 2I (GDGDB) [FKRP]
        DPM3-CDG [DPM3]
        SRD5A3-CDG [SRD5A3]
        PGM1-CDG [PGM1]
        Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [B3GAT3]
        Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]
        Ehlers-Danlos syndrome, musculocontractural type [CHST14]
        Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
        Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
        
        Vascular Diseases
        Aneurysm
        Aneurysm, Dissecting
        Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
        
        Aneurysm, Ruptured
        Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
        Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
        
        Intracranial Aneurysm
        Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
        
        Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
        Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
        
        Embolism and Thrombosis
        Thrombosis
        Venous Thrombosis
        PMM2-CDG (GDGDB) [PMM2]
        PMM2-CDG, adult stable disability stage [PMM2]
        
        ALG6-CDG (GDGDB) [ALG6]
        PIGM-CDG [PIGM]
        
        Paroxysmal nocturnal hemoglobinuria, somatic (SOMATIC MUTATION) (GDGDB) [PIGA]
        PGM1-CDG [PGM1]
        
        Cerebrovascular Disorders
        PMM2-CDG (GDGDB) [PMM2]
        PMM2-CDG, infantile multisystem stage [PMM2]
        PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
        PMM2-CDG, adult stable disability stage [PMM2]
        
        DPM3-CDG [DPM3]
        PGM1-CDG [PGM1]
        
        Hemostatic Disorders
        Ehlers-Danlos Syndrome
        Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
        
        Digestive System Diseases
        Gastrointestinal Diseases
        Esophageal Diseases
        Deglutition Disorders
        Esophageal Motility Disorders
        Esophageal Spasm, Diffuse
        Paroxysmal nocturnal hemoglobinuria, somatic (SOMATIC MUTATION) (GDGDB) [PIGA]
        
        Intestinal Diseases
        Protein-Losing Enteropathies
        MPI-CDG (GDGDB) [MPI]
        ALG6-CDG (GDGDB) [ALG6]
        ALG8-CDG (GDGDB) [ALG8]
        
        ALG8-CDG (GDGDB) [ALG8]
        
        Gastrointestinal Hemorrhage
        MPI-CDG (GDGDB) [MPI]
        ALG11-CDG [ALG11]
        
        COG6-CDG [COG6]
        Ehlers-Danlos syndrome, musculocontractural type [CHST14]
        Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
        
        Liver Diseases
        Hepatomegaly
        MPI-CDG (GDGDB) [MPI]
        ALG8-CDG (GDGDB) [ALG8]
        ALG2-CDG (GDGDB) [ALG2]
        ALG1-CDG (GDGDB) [ALG1]
        ALG9-CDG (GDGDB) [ALG9]
        RFT1-CDG [RFT1]
        GCS1-CDG (GDGDB) [GCS1]
        B4GALT1-CDG (GDGDB) [B4GALT1]
        COG7-CDG (GDGDB) [COG7]
        COG1-CDG [COG1]
        COG4-CDG [COG4]
        PIGM-CDG [PIGM]
        ALG13-CDG [ALG13]
        TMEM165-CDG [TMEM165]
        COG6-CDG [COG6]
        
        Hepatic Insufficiency
        PMM2-CDG (GDGDB) [PMM2]
        
        Hypertension, Portal
        PIGM-CDG [PIGM]
        
        Liver Cirrhosis
        PMM2-CDG (GDGDB) [PMM2]
        PMM2-CDG, infantile multisystem stage [PMM2]
        
        COG4-CDG [COG4]
        COG6-CDG [COG6]
        
        PMM2-CDG (GDGDB) [PMM2]
        MPI-CDG (GDGDB) [MPI]
        ALG3-CDG (GDGDB) [ALG3]
        ALG8-CDG (GDGDB) [ALG8]
        ALG1-CDG (GDGDB) [ALG1]
        SRD5A3-CDG [SRD5A3]
        DDOST-CDG [DDOST]
        PGM1-CDG [PGM1]
        COG6-CDG [COG6]
        
        Biliary Tract Diseases
        Cholelithiasis
        SEC23B-CDG (GDGDB) [SEC23B]
        
        Digestive System Abnormalities
        Anus, Imperforate
        Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
        Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
        
        COG6-CDG [COG6]
        Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
        Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
        
        Endocrine System Diseases
        Gonadal Disorders
        Disorders of Sex Development
        Adrenogenital Syndrome
        Hyperandrogenism
        ALG6-CDG (GDGDB) [ALG6]
        
        PMM2-CDG (GDGDB) [PMM2]
        PMM2-CDG, adult stable disability stage [PMM2]
        
        ALG6-CDG (GDGDB) [ALG6]
        
        Hypogonadism
        PMM2-CDG (GDGDB) [PMM2]
        PMM2-CDG, infantile multisystem stage [PMM2]
        PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
        PMM2-CDG, adult stable disability stage [PMM2]
        
        ALG12-CDG (GDGDB) [ALG12]
        ALG1-CDG (GDGDB) [ALG1]
        
        Ovarian Diseases
        PMM2-CDG (GDGDB) [PMM2]
        PMM2-CDG, adult stable disability stage [PMM2]
        
        Puberty, Delayed
        PMM2-CDG (GDGDB) [PMM2]
        PMM2-CDG, adult stable disability stage [PMM2]
        
        ALG6-CDG (GDGDB) [ALG6]
        MGAT2-CDG (GDGDB) [MGAT2]
        
        Pituitary Diseases
        Hyperpituitarism
        Hyperprolactinemia
        PMM2-CDG (GDGDB) [PMM2]
        PMM2-CDG, adult stable disability stage [PMM2]
        
        Thyroid Diseases
        Hypothyroidism
        PMM2-CDG (GDGDB) [PMM2]
        ALG8-CDG (GDGDB) [ALG8]
        
        PMM2-CDG (GDGDB) [PMM2]
        PMM2-CDG, adult stable disability stage [PMM2]
        
        ALG6-CDG (GDGDB) [ALG6]
        SRD5A3-CDG [SRD5A3]
        TMEM165-CDG [TMEM165]
        
        Eye Diseases
        Corneal Diseases
        Corneal Opacity
        POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
        POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
        Macular corneal dystrophy [CHST6]
        B3GALTL-CDG [B3GALTL]
        
        Macular corneal dystrophy [CHST6]
        Corneal Dystrophies, Hereditary
        Macular corneal dystrophy [CHST6]
        B3GALTL-CDG [B3GALTL]
        Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
        Ehlers-Danlos syndrome, musculocontractural type [CHST14]
        
        Eye Abnormalities
        Coloboma
        ALG3-CDG (GDGDB) [ALG3]
        ALG2-CDG (GDGDB) [ALG2]
        POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
        POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
        SRD5A3-CDG [SRD5A3]
        
        Hydrophthalmos
        POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
        POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
        
        Microphthalmos
        POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
        POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
        Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
        
        POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
        POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
        Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
        B3GALTL-CDG [B3GALTL]
        Retinal Dysplasia
        POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
        POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
        Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
        
        SRD5A3-CDG [SRD5A3]
        TMEM165-CDG [TMEM165]
        
        Lens Diseases
        Cataract
        PMM2-CDG (GDGDB) [PMM2]
        PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
        
        ALG2-CDG (GDGDB) [ALG2]
        DPAGT1-CDG (GDGDB) [DPAGT1]
        POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
        POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
        Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
        B3GALTL-CDG [B3GALTL]
        Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
        SRD5A3-CDG [SRD5A3]
        
        B3GALTL-CDG [B3GALTL]
        
        Ocular Hypertension
        Glaucoma
        POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
        POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
        B3GALTL-CDG [B3GALTL]
        Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
        Ehlers-Danlos syndrome, musculocontractural type [CHST14]
        
        Retinal Diseases
        Retinal Degeneration
        Retinal Dystrophies
        Retinitis Pigmentosa
        PMM2-CDG (GDGDB) [PMM2]
        PMM2-CDG, infantile multisystem stage [PMM2]
        PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
        PMM2-CDG, adult stable disability stage [PMM2]
        
        ALG6-CDG (GDGDB) [ALG6]
        POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
        POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
        Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
        
        Retinal Detachment
        Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
        Ehlers-Danlos syndrome, musculocontractural type [CHST14]
        
        DPM1-CDG (GDGDB) [DPM1]
        Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
        
        Eye Diseases, Hereditary
        POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
        POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
        Corneal Dystrophies, Hereditary
        Macular corneal dystrophy [CHST6]
        B3GALTL-CDG [B3GALTL]
        Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
        Ehlers-Danlos syndrome, musculocontractural type [CHST14]
        
        Optic Atrophies, Hereditary
        ALG3-CDG (GDGDB) [ALG3]
        POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
        POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
        Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
        ST3GAL5-CDG [SIAT9]
        SRD5A3-CDG [SRD5A3]
        ALG13-CDG [ALG13]
        
        Retinal Dysplasia
        POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
        POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
        Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
        
        Retinitis Pigmentosa
        PMM2-CDG (GDGDB) [PMM2]
        PMM2-CDG, infantile multisystem stage [PMM2]
        PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
        PMM2-CDG, adult stable disability stage [PMM2]
        
        SRD5A3-CDG [SRD5A3]
        TMEM165-CDG [TMEM165]
        Ehlers-Danlos syndrome, musculocontractural type [CHST14]
        
        Eye Manifestations
        Eye Pain
        Macular corneal dystrophy [CHST6]
        
        Eyelid Diseases
        COG8-CDG [COG8]
        
        Refractive Errors
        Hyperopia
        ALG6-CDG (GDGDB) [ALG6]
        
        Myopia
        PMM2-CDG (GDGDB) [PMM2]
        PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
        
        ATP6VOA2-CDG [ATP6V0A2]
        POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
        POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
        Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
        Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
        Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
        Ehlers-Danlos syndrome, musculocontractural type [CHST14]
        
        Ocular Motility Disorders
        RFT1-CDG [RFT1]
        Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
        Nystagmus, Pathologic
        Nystagmus, Congenital
        DPM1-CDG (GDGDB) [DPM1]
        DOLK-CDG [TMEM15]
        COG4-CDG [COG4]
        SRD5A3-CDG [SRD5A3]
        ALG13-CDG [ALG13]
        Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
        
        Strabismus
        PMM2-CDG (GDGDB) [PMM2]
        PMM2-CDG, infantile multisystem stage [PMM2]
        PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
        PMM2-CDG, adult stable disability stage [PMM2]
        
        ALG6-CDG (GDGDB) [ALG6]
        ALG3-CDG (GDGDB) [ALG3]
        DPM1-CDG (GDGDB) [DPM1]
        Esotropia
        PMM2-CDG (GDGDB) [PMM2]
        PMM2-CDG, infantile multisystem stage [PMM2]
        PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
        PMM2-CDG, adult stable disability stage [PMM2]
        
        ALG9-CDG (GDGDB) [ALG9]
        COG8-CDG [COG8]
        Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
        
        Exotropia
        DPAGT1-CDG (GDGDB) [DPAGT1]
        
        ALG11-CDG [ALG11]
        DDOST-CDG [DDOST]
        
        Vision Disorders
        Blindness
        PMM2-CDG (GDGDB) [PMM2]
        PMM2-CDG, infantile multisystem stage [PMM2]
        PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
        PMM2-CDG, adult stable disability stage [PMM2]
        
        ALG3-CDG (GDGDB) [ALG3]
        DPM1-CDG (GDGDB) [DPM1]
        ALG12-CDG (GDGDB) [ALG12]
        POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
        POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
        Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
        ST3GAL5-CDG [SIAT9]
        SRD5A3-CDG [SRD5A3]
        
        Vision, Low
        ALG3-CDG (GDGDB) [ALG3]
        MPDU1-CDG (GDGDB) [MPDU1]
        ALG1-CDG (GDGDB) [ALG1]
        POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
        POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
        Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
        B3GALTL-CDG [B3GALTL]
        ALG11-CDG [ALG11]
        
        Photophobia
        Macular corneal dystrophy [CHST6]
        
        Optic Nerve Diseases
        Optic Atrophy
        Optic Atrophies, Hereditary
        ALG3-CDG (GDGDB) [ALG3]
        POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
        POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
        Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
        ST3GAL5-CDG [SIAT9]
        SRD5A3-CDG [SRD5A3]
        ALG13-CDG [ALG13]
        
        SRD5A3-CDG [SRD5A3]
        ALG13-CDG [ALG13]
        
        Female Urogenital Diseases and Pregnancy Complications
        Female Urogenital Diseases
        Urologic Diseases
        Kidney Diseases
        Kidney Diseases, Cystic
        PMM2-CDG (GDGDB) [PMM2]
        PMM2-CDG, infantile multisystem stage [PMM2]
        
        ALG9-CDG (GDGDB) [ALG9]
        
        Nephrosis
        Nephrotic Syndrome
        PMM2-CDG (GDGDB) [PMM2]
        PMM2-CDG, infantile multisystem stage [PMM2]
        
        ALG1-CDG (GDGDB) [ALG1]
        
        COG6-CDG [COG6]
        Ehlers-Danlos syndrome, musculocontractural type [CHST14]
        Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
        
        Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
        
        Urogenital Abnormalities
        GCS1-CDG (GDGDB) [GCS1]
        B3GALTL-CDG [B3GALTL]
        Ehlers-Danlos syndrome, musculocontractural type [CHST14]
        Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
        
        Pregnancy Complications
        Fetal Death
        Achondrogenesis type IB [SLC26A2]
        Neonatal osseous dysplasia I [SLC26A2]
        
        Polyhydramnios
        SLC35D1-CDG [SLC35D1]
        
        Hemic and Lymphatic Diseases
        Hematologic Diseases
        Anemia
        Anemia, Hemolytic
        Hemoglobinuria, Paroxysmal
        Paroxysmal nocturnal hemoglobinuria, somatic (SOMATIC MUTATION) (GDGDB) [PIGA]
        
        Anemia, Hemolytic, Congenital
        Anemia, Dyserythropoietic, Congenital
        SEC23B-CDG (GDGDB) [SEC23B]
        
        Anemia, Hemolytic, Autoimmune
        Tn polyagglutination syndrome, somatic (SOMATIC MUTATION) [C1GALT1C1]
        
        ALG8-CDG (GDGDB) [ALG8]
        DPAGT1-CDG (GDGDB) [DPAGT1]
        SEC23B-CDG (GDGDB) [SEC23B]
        SRD5A3-CDG [SRD5A3]
        
        Blood Platelet Disorders
        Thrombocytopenia
        ALG8-CDG (GDGDB) [ALG8]
        SLC35A1-CDG [SLC35A1]
        COG4-CDG [COG4]
        Tn polyagglutination syndrome, somatic (SOMATIC MUTATION) [C1GALT1C1]
        
        Hemorrhagic Disorders
        SLC35A1-CDG [SLC35A1]
        Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
        Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
        Hemostatic Disorders
        Ehlers-Danlos Syndrome
        Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
        
        Blood Coagulation Disorders
        Coagulation Protein Disorders
        PMM2-CDG (GDGDB) [PMM2]
        PMM2-CDG, infantile multisystem stage [PMM2]
        PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
        PMM2-CDG, adult stable disability stage [PMM2]
        
        COG8-CDG [COG8]
        COG4-CDG [COG4]
        SRD5A3-CDG [SRD5A3]
        DDOST-CDG [DDOST]
        PGM1-CDG [PGM1]
        
        PMM2-CDG (GDGDB) [PMM2]
        PMM2-CDG, infantile multisystem stage [PMM2]
        PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
        PMM2-CDG, adult stable disability stage [PMM2]
        
        MPI-CDG (GDGDB) [MPI]
        ALG6-CDG (GDGDB) [ALG6]
        ALG12-CDG (GDGDB) [ALG12]
        ALG8-CDG (GDGDB) [ALG8]
        ALG2-CDG (GDGDB) [ALG2]
        ALG1-CDG (GDGDB) [ALG1]
        RFT1-CDG [RFT1]
        MGAT2-CDG (GDGDB) [MGAT2]
        B4GALT1-CDG (GDGDB) [B4GALT1]
        COG8-CDG [COG8]
        COG4-CDG [COG4]
        SRD5A3-CDG [SRD5A3]
        COG6-CDG [COG6]
        
        Blood Protein Disorders
        Hypoproteinemia
        Hypoalbuminemia
        PMM2-CDG (GDGDB) [PMM2]
        PMM2-CDG, infantile multisystem stage [PMM2]
        
        ALG8-CDG (GDGDB) [ALG8]
        
        DPAGT1-CDG (GDGDB) [DPAGT1]
        
        Leukocyte Disorders
        Leukocytosis
        SLC35C1-CDG (GDGDB) [SLC35C1]
        
        Leukopenia
        Agranulocytosis
        Neutropenia
        SLC35A1-CDG [SLC35A1]
        
        Tn polyagglutination syndrome, somatic (SOMATIC MUTATION) [C1GALT1C1]
        
        Lymphatic Diseases
        Splenic Diseases
        ALG1-CDG (GDGDB) [ALG1]
        ALG9-CDG (GDGDB) [ALG9]
        COG7-CDG (GDGDB) [COG7]
        COG1-CDG [COG1]
        COG4-CDG [COG4]
        SEC23B-CDG (GDGDB) [SEC23B]
        PIGM-CDG [PIGM]
        TMEM165-CDG [TMEM165]
        
        Male Urogenital Diseases
        Urologic Diseases
        Kidney Diseases
        Kidney Diseases, Cystic
        PMM2-CDG (GDGDB) [PMM2]
        PMM2-CDG, infantile multisystem stage [PMM2]
        
        ALG9-CDG (GDGDB) [ALG9]
        
        Nephrosis
        Nephrotic Syndrome
        PMM2-CDG (GDGDB) [PMM2]
        PMM2-CDG, infantile multisystem stage [PMM2]
        
        ALG1-CDG (GDGDB) [ALG1]
        
        COG6-CDG [COG6]
        Ehlers-Danlos syndrome, musculocontractural type [CHST14]
        Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
        
        Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
        
        Urogenital Abnormalities
        B3GALTL-CDG [B3GALTL]
        Cryptorchidism
        DPAGT1-CDG (GDGDB) [DPAGT1]
        Ehlers-Danlos syndrome, musculocontractural type [CHST14]
        
        Hypospadias
        ALG12-CDG (GDGDB) [ALG12]
        
        Ehlers-Danlos syndrome, musculocontractural type [CHST14]
        Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
        
        Musculoskeletal Diseases
        Bone Diseases
        Bone Diseases, Developmental
        Dwarfism
        PMM2-CDG (GDGDB) [PMM2]
        MPDU1-CDG (GDGDB) [MPDU1]
        DOLK-CDG [TMEM15]
        MGAT2-CDG (GDGDB) [MGAT2]
        SLC35C1-CDG (GDGDB) [SLC35C1]
        COG1-CDG [COG1]
        B4GALT7-CDG [B4GALT7]
        EXT1/EXT2-CDG [EXT1,EXT2]
        Spondyloepimetaphyseal dysplasia, pakistani type [PAPSS2]
        Diastrophic dysplasia [SLC26A2]
        Achondrogenesis type IB [SLC26A2]
        Neonatal osseous dysplasia I [SLC26A2]
        Autosomal recessive multiple epiphyseal dysplasia [SLC26A2]
        SLC35D1-CDG [SLC35D1]
        B3GALTL-CDG [B3GALTL]
        TMEM165-CDG [TMEM165]
        Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [B3GAT3]
        Temtamy preaxial brachydactyly syndrome [CHSY1]
        Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]
        Ehlers-Danlos syndrome, musculocontractural type [CHST14]
        
        Dysostoses
        Osteochondrodysplasias
        SLC35D1-CDG [SLC35D1]
        Osteochondroma
        Osteochondromatosis
        Exostoses, Multiple Hereditary
        EXT1/EXT2-CDG [EXT1,EXT2]
        
        Osteogenesis Imperfecta
        Bruck syndrome 2 (GDGDB) [PLOD2]
        TMEM165-CDG [TMEM165]
        Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]
        
        ALG12-CDG (GDGDB) [ALG12]
        Spondyloepimetaphyseal dysplasia, pakistani type [PAPSS2]
        Diastrophic dysplasia [SLC26A2]
        Achondrogenesis type IB [SLC26A2]
        SLC35D1-CDG [SLC35D1]
        LFNG-CDG [LFNG]
        TMEM165-CDG [TMEM165]
        Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [B3GAT3]
        Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]
        
        Bone Diseases, Metabolic
        Osteoporosis
        PMM2-CDG (GDGDB) [PMM2]
        MGAT2-CDG (GDGDB) [MGAT2]
        COG1-CDG [COG1]
        ATP6VOA2-CDG [ATP6V0A2]
        B4GALT7-CDG [B4GALT7]
        Bruck syndrome 2 (GDGDB) [PLOD2]
        Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
        DDOST-CDG [DDOST]
        TMEM165-CDG [TMEM165]
        Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [B3GAT3]
        
        Spinal Diseases
        Spinal Curvatures
        Kyphosis
        Muscular dystrophy, limb-girdle, type 2I (GDGDB) [FKRP]
        Spondyloepimetaphyseal dysplasia, pakistani type [PAPSS2]
        Neonatal osseous dysplasia I [SLC26A2]
        Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
        SRD5A3-CDG [SRD5A3]
        TMEM165-CDG [TMEM165]
        Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [B3GAT3]
        Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]
        Ehlers-Danlos syndrome, musculocontractural type [CHST14]
        
        Lordosis
        Muscular dystrophy, limb-girdle, type 2M (GDGDB) [FKTN]
        Muscular dystrophy, limb-girdle, type 2I (GDGDB) [FKRP]
        Neonatal osseous dysplasia I [SLC26A2]
        
        Scoliosis
        GCS1-CDG (GDGDB) [GCS1]
        Muscular dystrophy, limb-girdle, type 2I (GDGDB) [FKRP]
        Spondyloepimetaphyseal dysplasia, pakistani type [PAPSS2]
        Diastrophic dysplasia [SLC26A2]
        Neonatal osseous dysplasia I [SLC26A2]
        Autosomal recessive multiple epiphyseal dysplasia [SLC26A2]
        LFNG-CDG [LFNG]
        Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
        Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
        ALG11-CDG [ALG11]
        ALG13-CDG [ALG13]
        TMEM165-CDG [TMEM165]
        Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [B3GAT3]
        Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]
        Ehlers-Danlos syndrome, musculocontractural type [CHST14]
        
        PMM2-CDG (GDGDB) [PMM2]
        PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
        PMM2-CDG, adult stable disability stage [PMM2]
        
        MGAT2-CDG (GDGDB) [MGAT2]
        COG1-CDG [COG1]
        Diastrophic dysplasia [SLC26A2]
        Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
        TMEM165-CDG [TMEM165]
        Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [B3GAT3]
        Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]
        
        Spondylosis
        COG1-CDG [COG1]
        Spondyloepimetaphyseal dysplasia, pakistani type [PAPSS2]
        SLC35D1-CDG [SLC35D1]
        LFNG-CDG [LFNG]
        TMEM165-CDG [TMEM165]
        Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [B3GAT3]
        Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]
        
        Genu Valgum
        EXT1/EXT2-CDG [EXT1,EXT2]
        Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]
        
        Hyperostosis
        Exostoses
        Exostoses, Multiple Hereditary
        EXT1/EXT2-CDG [EXT1,EXT2]
        
        Joint Diseases
        Arthritis
        Osteoarthritis
        Spondyloepimetaphyseal dysplasia, pakistani type [PAPSS2]
        Diastrophic dysplasia [SLC26A2]
        Autosomal recessive multiple epiphyseal dysplasia [SLC26A2]
        
        Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]
        
        Contracture
        Hip Contracture
        Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
        
        PMM2-CDG (GDGDB) [PMM2]
        PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
        PMM2-CDG, adult stable disability stage [PMM2]
        
        ALG3-CDG (GDGDB) [ALG3]
        DPM1-CDG (GDGDB) [DPM1]
        DPAGT1-CDG (GDGDB) [DPAGT1]
        ALG1-CDG (GDGDB) [ALG1]
        Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
        Muscular dystrophy, limb-girdle, type 2M (GDGDB) [FKTN]
        Muscular dystrophy, congenital, type 1C (GDGDB) [FKRP]
        LARGE-CDG (cong. muscular dystrophy spectrum) [LARGE]
        Diastrophic dysplasia [SLC26A2]
        Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
        Bruck syndrome 2 (GDGDB) [PLOD2]
        Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
        ALG13-CDG [ALG13]
        Ehlers-Danlos syndrome, musculocontractural type [CHST14]
        
        Coxa Vara
        EXT1/EXT2-CDG [EXT1,EXT2]
        
        Joint Instability
        ATP6VOA2-CDG [ATP6V0A2]
        B4GALT7-CDG [B4GALT7]
        Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
        TMEM165-CDG [TMEM165]
        Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [B3GAT3]
        Ehlers-Danlos syndrome, musculocontractural type [CHST14]
        
        ATP6VOA2-CDG [ATP6V0A2]
        Bruck syndrome 2 (GDGDB) [PLOD2]
        Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]
        
        Musculoskeletal Abnormalities
        Craniofacial Abnormalities
        Craniofacial Dysostosis
        Hypertelorism
        DPM1-CDG (GDGDB) [DPM1]
        ALG1-CDG (GDGDB) [ALG1]
        ALG13-CDG [ALG13]
        Mental retardation, autosomal recessive 15 [MAN1B1]
        Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]
        Ehlers-Danlos syndrome, musculocontractural type [CHST14]
        Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
        
        Macrocephaly
        B4GALT1-CDG (GDGDB) [B4GALT1]
        POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
        POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
        B3GALTL-CDG [B3GALTL]
        
        Maxillofacial Abnormalities
        PMM2-CDG (GDGDB) [PMM2]
        PMM2-CDG, infantile multisystem stage [PMM2]
        
        ALG3-CDG (GDGDB) [ALG3]
        DPM1-CDG (GDGDB) [DPM1]
        ALG12-CDG (GDGDB) [ALG12]
        ALG8-CDG (GDGDB) [ALG8]
        DPAGT1-CDG (GDGDB) [DPAGT1]
        ALG1-CDG (GDGDB) [ALG1]
        MGAT2-CDG (GDGDB) [MGAT2]
        GCS1-CDG (GDGDB) [GCS1]
        SLC35C1-CDG (GDGDB) [SLC35C1]
        COG7-CDG (GDGDB) [COG7]
        COG1-CDG [COG1]
        COG8-CDG [COG8]
        COG4-CDG [COG4]
        ATP6VOA2-CDG [ATP6V0A2]
        B4GALT7-CDG [B4GALT7]
        Neonatal osseous dysplasia I [SLC26A2]
        B3GALTL-CDG [B3GALTL]
        Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
        Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
        Jaw Abnormalities
        Cleft Palate
        Diastrophic dysplasia [SLC26A2]
        Neonatal osseous dysplasia I [SLC26A2]
        Autosomal recessive multiple epiphyseal dysplasia [SLC26A2]
        SLC35D1-CDG [SLC35D1]
        B3GALTL-CDG [B3GALTL]
        PGM1-CDG [PGM1]
        Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [B3GAT3]
        Temtamy preaxial brachydactyly syndrome [CHSY1]
        Ehlers-Danlos syndrome, musculocontractural type [CHST14]
        Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
        
        Micrognathism
        DPAGT1-CDG (GDGDB) [DPAGT1]
        ALG1-CDG (GDGDB) [ALG1]
        COG7-CDG (GDGDB) [COG7]
        COG1-CDG [COG1]
        B3GALTL-CDG [B3GALTL]
        ALG13-CDG [ALG13]
        Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [B3GAT3]
        Temtamy preaxial brachydactyly syndrome [CHSY1]
        
        SRD5A3-CDG [SRD5A3]
        ALG13-CDG [ALG13]
        TMEM165-CDG [TMEM165]
        COG6-CDG [COG6]
        Mental retardation, autosomal recessive 15 [MAN1B1]
        Temtamy preaxial brachydactyly syndrome [CHSY1]
        Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]
        Ehlers-Danlos syndrome, musculocontractural type [CHST14]
        Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
        Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
        Retrognathia
        COG6-CDG [COG6]
        
        Pierre Robin Syndrome
        PGM1-CDG [PGM1]
        
        Microcephaly
        ALG3-CDG (GDGDB) [ALG3]
        DPM1-CDG (GDGDB) [DPM1]
        ALG12-CDG (GDGDB) [ALG12]
        DPAGT1-CDG (GDGDB) [DPAGT1]
        ALG1-CDG (GDGDB) [ALG1]
        ALG9-CDG (GDGDB) [ALG9]
        DOLK-CDG [TMEM15]
        RFT1-CDG [RFT1]
        SLC35C1-CDG (GDGDB) [SLC35C1]
        COG1-CDG [COG1]
        COG8-CDG [COG8]
        COG4-CDG [COG4]
        ATP6VOA2-CDG [ATP6V0A2]
        POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
        POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
        Muscular dystrophy, congenital, type 1C (GDGDB) [FKRP]
        ALG11-CDG [ALG11]
        ALG13-CDG [ALG13]
        TMEM165-CDG [TMEM165]
        COG6-CDG [COG6]
        
        B4GALT7-CDG [B4GALT7]
        Diastrophic dysplasia [SLC26A2]
        Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
        ALG11-CDG [ALG11]
        ALG13-CDG [ALG13]
        Mental retardation, autosomal recessive 15 [MAN1B1]
        Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [B3GAT3]
        Ehlers-Danlos syndrome, musculocontractural type [CHST14]
        
        Hip Dislocation, Congenital
        ATP6VOA2-CDG [ATP6V0A2]
        Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
        Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [B3GAT3]
        Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]
        
        Limb Deformities, Congenital
        Brachydactyly
        ALG6-CDG (GDGDB) [ALG6]
        Spondyloepimetaphyseal dysplasia, pakistani type [PAPSS2]
        SLC35D1-CDG [SLC35D1]
        B3GALTL-CDG [B3GALTL]
        Temtamy preaxial brachydactyly syndrome [CHSY1]
        Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]
        Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
        
        Lower Extremity Deformities, Congenital
        Foot Deformities, Congenital
        Clubfoot
        Diastrophic dysplasia [SLC26A2]
        Achondrogenesis type IB [SLC26A2]
        Neonatal osseous dysplasia I [SLC26A2]
        Autosomal recessive multiple epiphyseal dysplasia [SLC26A2]
        Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
        Bruck syndrome 2 (GDGDB) [PLOD2]
        Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
        Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [B3GAT3]
        Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]
        Ehlers-Danlos syndrome, musculocontractural type [CHST14]
        
        Autosomal recessive multiple epiphyseal dysplasia [SLC26A2]
        ALG13-CDG [ALG13]
        Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [B3GAT3]
        Temtamy preaxial brachydactyly syndrome [CHSY1]
        Ehlers-Danlos syndrome, musculocontractural type [CHST14]
        Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
        
        B3GALTL-CDG [B3GALTL]
        
        Upper Extremity Deformities, Congenital
        Hand Deformities, Congenital
        Autosomal recessive multiple epiphyseal dysplasia [SLC26A2]
        B3GALTL-CDG [B3GALTL]
        ALG13-CDG [ALG13]
        Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [B3GAT3]
        Temtamy preaxial brachydactyly syndrome [CHSY1]
        Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]
        Ehlers-Danlos syndrome, musculocontractural type [CHST14]
        Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
        
        B3GALTL-CDG [B3GALTL]
        
        MGAT2-CDG (GDGDB) [MGAT2]
        Spondyloepimetaphyseal dysplasia, pakistani type [PAPSS2]
        Diastrophic dysplasia [SLC26A2]
        Achondrogenesis type IB [SLC26A2]
        Neonatal osseous dysplasia I [SLC26A2]
        Autosomal recessive multiple epiphyseal dysplasia [SLC26A2]
        SLC35D1-CDG [SLC35D1]
        ALG13-CDG [ALG13]
        COG6-CDG [COG6]
        Temtamy preaxial brachydactyly syndrome [CHSY1]
        Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]
        
        Arthrogryposis
        ALG3-CDG (GDGDB) [ALG3]
        Bruck syndrome 2 (GDGDB) [PLOD2]
        Ehlers-Danlos syndrome, musculocontractural type [CHST14]
        
        COG7-CDG (GDGDB) [COG7]
        ATP6VOA2-CDG [ATP6V0A2]
        Diastrophic dysplasia [SLC26A2]
        Achondrogenesis type IB [SLC26A2]
        Neonatal osseous dysplasia I [SLC26A2]
        Autosomal recessive multiple epiphyseal dysplasia [SLC26A2]
        SLC35D1-CDG [SLC35D1]
        LFNG-CDG [LFNG]
        Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
        Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
        TMEM165-CDG [TMEM165]
        Temtamy preaxial brachydactyly syndrome [CHSY1]
        
        Muscular Diseases
        Muscle Spasticity
        POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
        
        Muscle Weakness
        PMM2-CDG (GDGDB) [PMM2]
        PMM2-CDG, infantile multisystem stage [PMM2]
        
        B4GALT1-CDG (GDGDB) [B4GALT1]
        POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
        POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
        Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
        Muscular dystrophy, limb-girdle, type 2M (GDGDB) [FKTN]
        Cardiomyopathy, dilated, 1X (GDGDB) [FKTN]
        Muscular dystrophy, congenital, type 1C (GDGDB) [FKRP]
        Muscular dystrophy, limb-girdle, type 2I (GDGDB) [FKRP]
        LARGE-CDG (cong. muscular dystrophy spectrum) [LARGE]
        Duchenne muscular dystrophy [DMD]
        Hereditary inclusion body myopathy type 2 [GNE]
        Nonaka myopathy (GDGDB) [GNE]
        Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
        DPM3-CDG [DPM3]
        TMEM165-CDG [TMEM165]
        Myasthenia, congenital, with tubular aggregates 1 [GFPT1]
        Ehlers-Danlos syndrome, musculocontractural type [CHST14]
        
        Muscular Disorders, Atrophic
        Muscular Dystrophies
        POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
        POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
        Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
        Muscular dystrophy, limb-girdle, type 2M (GDGDB) [FKTN]
        Cardiomyopathy, dilated, 1X (GDGDB) [FKTN]
        Muscular dystrophy, congenital, type 1C (GDGDB) [FKRP]
        Muscular dystrophy, limb-girdle, type 2I (GDGDB) [FKRP]
        LARGE-CDG (cong. muscular dystrophy spectrum) [LARGE]
        Duchenne muscular dystrophy [DMD]
        
        DPM3-CDG [DPM3]
        
        Cartilage Diseases
        Spondyloepimetaphyseal dysplasia, pakistani type [PAPSS2]
        Diastrophic dysplasia [SLC26A2]
        Achondrogenesis type IB [SLC26A2]
        Neonatal osseous dysplasia I [SLC26A2]
        Autosomal recessive multiple epiphyseal dysplasia [SLC26A2]
        SLC35D1-CDG [SLC35D1]
        
        Neoplasms
        Neoplasms by Histologic Type
        Neoplasms, Connective and Soft Tissue
        Neoplasms, Connective Tissue
        Neoplasms, Bone Tissue
        Osteochondroma
        Osteochondromatosis
        Exostoses, Multiple Hereditary
        EXT1/EXT2-CDG [EXT1,EXT2]
        
        Neoplastic Syndromes, Hereditary
        Exostoses, Multiple Hereditary
        EXT1/EXT2-CDG [EXT1,EXT2]
        
        Nervous System Diseases
        Central Nervous System Diseases
        Brain Diseases
        Intracranial Hypertension
        Pseudotumor Cerebri
        ALG6-CDG (GDGDB) [ALG6]
        
        Hydrocephalus
        POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
        POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
        Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
        ALG13-CDG [ALG13]
        Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [B3GAT3]
        
        Cerebellar Diseases
        PMM2-CDG (GDGDB) [PMM2]
        PMM2-CDG, infantile multisystem stage [PMM2]
        PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
        PMM2-CDG, adult stable disability stage [PMM2]
        
        ALG6-CDG (GDGDB) [ALG6]
        ALG3-CDG (GDGDB) [ALG3]
        ALG1-CDG (GDGDB) [ALG1]
        B4GALT1-CDG (GDGDB) [B4GALT1]
        COG8-CDG [COG8]
        COG5-CDG [COG5]
        POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
        POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
        Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
        Muscular dystrophy, congenital, type 1C (GDGDB) [FKRP]
        LARGE-CDG (cong. muscular dystrophy spectrum) [LARGE]
        SRD5A3-CDG [SRD5A3]
        
        Epilepsy
        Epilepsies, Myoclonic
        ST3GAL5-CDG [SIAT9]
        
        Epilepsy, Generalized
        Spasms, Infantile
        ALG3-CDG (GDGDB) [ALG3]
        ALG2-CDG (GDGDB) [ALG2]
        DPAGT1-CDG (GDGDB) [DPAGT1]
        
        Status Epilepticus
        ST3GAL5-CDG [SIAT9]
        
        Seizures
        ST3GAL5-CDG [SIAT9]
        
        PMM2-CDG (GDGDB) [PMM2]
        ALG6-CDG (GDGDB) [ALG6]
        ALG3-CDG (GDGDB) [ALG3]
        ALG1-CDG (GDGDB) [ALG1]
        MGAT2-CDG (GDGDB) [MGAT2]
        COG7-CDG (GDGDB) [COG7]
        COG8-CDG [COG8]
        ATP6VOA2-CDG [ATP6V0A2]
        ST3GAL5-CDG [SIAT9]
        ALG11-CDG [ALG11]
        ALG13-CDG [ALG13]
        TMEM165-CDG [TMEM165]
        Mental retardation, autosomal recessive 15 [MAN1B1]
        Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
        
        Cerebrovascular Disorders
        PMM2-CDG (GDGDB) [PMM2]
        PMM2-CDG, infantile multisystem stage [PMM2]
        PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
        PMM2-CDG, adult stable disability stage [PMM2]
        
        DPM3-CDG [DPM3]
        PGM1-CDG [PGM1]
        
        Hydrocephalus
        B4GALT1-CDG (GDGDB) [B4GALT1]
        POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
        POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
        Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
        B3GALTL-CDG [B3GALTL]
        ALG13-CDG [ALG13]
        Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [B3GAT3]
        
        Movement Disorders
        Dyskinesias
        ST3GAL5-CDG [SIAT9]
        
        COG4-CDG [COG4]
        ST3GAL5-CDG [SIAT9]
        SRD5A3-CDG [SRD5A3]
        
        Spinal Cord Diseases
        Spinal Cord Compression
        EXT1/EXT2-CDG [EXT1,EXT2]
        
        Ocular Motility Disorders
        RFT1-CDG [RFT1]
        Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
        
        Demyelinating Diseases
        Hereditary Central Nervous System Demyelinating Diseases
        DDOST-CDG [DDOST]
        ALG13-CDG [ALG13]
        TMEM165-CDG [TMEM165]
        Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
        Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
        
        Nervous System Malformations
        Malformations of Cortical Development
        Lissencephaly
        Cobblestone Lissencephaly
        POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
        POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
        Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
        
        Neuronal Migration Disorders
        POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
        POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
        Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
        LARGE-CDG (cong. muscular dystrophy spectrum) [LARGE]
        Cobblestone Lissencephaly
        POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
        POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
        Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
        
        Macrocephaly
        B4GALT1-CDG (GDGDB) [B4GALT1]
        POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
        POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
        B3GALTL-CDG [B3GALTL]
        
        Microcephaly
        ALG3-CDG (GDGDB) [ALG3]
        DPM1-CDG (GDGDB) [DPM1]
        ALG12-CDG (GDGDB) [ALG12]
        DPAGT1-CDG (GDGDB) [DPAGT1]
        ALG1-CDG (GDGDB) [ALG1]
        ALG9-CDG (GDGDB) [ALG9]
        DOLK-CDG [TMEM15]
        RFT1-CDG [RFT1]
        SLC35C1-CDG (GDGDB) [SLC35C1]
        COG1-CDG [COG1]
        COG8-CDG [COG8]
        COG4-CDG [COG4]
        ATP6VOA2-CDG [ATP6V0A2]
        POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
        POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
        Muscular dystrophy, congenital, type 1C (GDGDB) [FKRP]
        ALG11-CDG [ALG11]
        ALG13-CDG [ALG13]
        TMEM165-CDG [TMEM165]
        COG6-CDG [COG6]
        
        ATP6VOA2-CDG [ATP6V0A2]
        POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
        POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
        Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
        LARGE-CDG (cong. muscular dystrophy spectrum) [LARGE]
        
        Central Nervous System Cysts
        POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
        POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
        Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
        Muscular dystrophy, congenital, type 1C (GDGDB) [FKRP]
        LARGE-CDG (cong. muscular dystrophy spectrum) [LARGE]
        Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
        
        PMM2-CDG (GDGDB) [PMM2]
        PMM2-CDG, infantile multisystem stage [PMM2]
        
        ATP6VOA2-CDG [ATP6V0A2]
        POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
        POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
        Muscular dystrophy, congenital, type 1C (GDGDB) [FKRP]
        LARGE-CDG (cong. muscular dystrophy spectrum) [LARGE]
        B3GALTL-CDG [B3GALTL]
        SRD5A3-CDG [SRD5A3]
        Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
        
        Neurodegenerative Diseases
        Heredodegenerative Disorders, Nervous System
        PMM2-CDG (GDGDB) [PMM2]
        PMM2-CDG, infantile multisystem stage [PMM2]
        PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
        
        ALG3-CDG (GDGDB) [ALG3]
        ALG1-CDG (GDGDB) [ALG1]
        ALG9-CDG (GDGDB) [ALG9]
        COG7-CDG (GDGDB) [COG7]
        COG1-CDG [COG1]
        COG8-CDG [COG8]
        COG5-CDG [COG5]
        COG4-CDG [COG4]
        ATP6VOA2-CDG [ATP6V0A2]
        B3GALTL-CDG [B3GALTL]
        ST3GAL5-CDG [SIAT9]
        SRD5A3-CDG [SRD5A3]
        DDOST-CDG [DDOST]
        ALG13-CDG [ALG13]
        TMEM165-CDG [TMEM165]
        Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
        Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
        
        Neurologic Manifestations
        Gait Disorders, Neurologic
        Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
        
        Neurobehavioral Manifestations
        Lethargy
        COG8-CDG [COG8]
        
        Psychomotor Disorders
        PMM2-CDG (GDGDB) [PMM2]
        PMM2-CDG, infantile multisystem stage [PMM2]
        
        ALG6-CDG (GDGDB) [ALG6]
        ALG3-CDG (GDGDB) [ALG3]
        MPDU1-CDG (GDGDB) [MPDU1]
        ALG12-CDG (GDGDB) [ALG12]
        ALG8-CDG (GDGDB) [ALG8]
        ALG1-CDG (GDGDB) [ALG1]
        MGAT2-CDG (GDGDB) [MGAT2]
        SLC35C1-CDG (GDGDB) [SLC35C1]
        COG7-CDG (GDGDB) [COG7]
        COG1-CDG [COG1]
        COG8-CDG [COG8]
        COG4-CDG [COG4]
        ST3GAL5-CDG [SIAT9]
        ALG11-CDG [ALG11]
        DDOST-CDG [DDOST]
        ALG13-CDG [ALG13]
        TMEM165-CDG [TMEM165]
        Mental retardation, autosomal recessive 15 [MAN1B1]
        Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
        
        Communication Disorders
        Language Disorders
        Speech Disorders
        PMM2-CDG (GDGDB) [PMM2]
        PMM2-CDG, infantile multisystem stage [PMM2]
        PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
        PMM2-CDG, adult stable disability stage [PMM2]
        
        ALG6-CDG (GDGDB) [ALG6]
        ALG3-CDG (GDGDB) [ALG3]
        DPM1-CDG (GDGDB) [DPM1]
        DPAGT1-CDG (GDGDB) [DPAGT1]
        COG5-CDG [COG5]
        COG4-CDG [COG4]
        POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
        POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
        Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
        ST3GAL5-CDG [SIAT9]
        Articulation Disorders
        COG5-CDG [COG5]
        Dysarthria
        PMM2-CDG (GDGDB) [PMM2]
        PMM2-CDG, infantile multisystem stage [PMM2]
        PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
        PMM2-CDG, adult stable disability stage [PMM2]
        
        DDOST-CDG [DDOST]
        Mental retardation, autosomal recessive 15 [MAN1B1]
        Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
        
        Learning Disorders
        Temtamy preaxial brachydactyly syndrome [CHSY1]
        Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
        
        Intellectual Disability
        PMM2-CDG (GDGDB) [PMM2]
        PMM2-CDG, infantile multisystem stage [PMM2]
        PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
        PMM2-CDG, adult stable disability stage [PMM2]
        
        ALG6-CDG (GDGDB) [ALG6]
        ALG3-CDG (GDGDB) [ALG3]
        ALG12-CDG (GDGDB) [ALG12]
        ALG2-CDG (GDGDB) [ALG2]
        DPAGT1-CDG (GDGDB) [DPAGT1]
        SLC35C1-CDG (GDGDB) [SLC35C1]
        COG1-CDG [COG1]
        COG8-CDG [COG8]
        COG5-CDG [COG5]
        TUSC3-CDG [TUSC3]
        ATP6VOA2-CDG [ATP6V0A2]
        POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
        POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
        Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
        Muscular dystrophy, congenital, type 1C (GDGDB) [FKRP]
        LARGE-CDG (cong. muscular dystrophy spectrum) [LARGE]
        B4GALT7-CDG [B4GALT7]
        B3GALTL-CDG [B3GALTL]
        ST3GAL5-CDG [SIAT9]
        ALG11-CDG [ALG11]
        SRD5A3-CDG [SRD5A3]
        Mental retardation, autosomal recessive 15 [MAN1B1]
        Mental retardation, autosomal recessive 12 [ST3GAL3]
        Temtamy preaxial brachydactyly syndrome [CHSY1]
        Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
        
        Neuromuscular Manifestations
        Muscle Hypertonia
        Muscle Spasticity
        POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
        
        MPDU1-CDG (GDGDB) [MPDU1]
        DPAGT1-CDG (GDGDB) [DPAGT1]
        
        Muscle Hypotonia
        PMM2-CDG (GDGDB) [PMM2]
        PMM2-CDG, infantile multisystem stage [PMM2]
        PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
        
        ALG6-CDG (GDGDB) [ALG6]
        ALG3-CDG (GDGDB) [ALG3]
        DPM1-CDG (GDGDB) [DPM1]
        ALG12-CDG (GDGDB) [ALG12]
        ALG8-CDG (GDGDB) [ALG8]
        DPAGT1-CDG (GDGDB) [DPAGT1]
        ALG1-CDG (GDGDB) [ALG1]
        ALG9-CDG (GDGDB) [ALG9]
        DOLK-CDG [TMEM15]
        RFT1-CDG [RFT1]
        GCS1-CDG (GDGDB) [GCS1]
        SLC35C1-CDG (GDGDB) [SLC35C1]
        B4GALT1-CDG (GDGDB) [B4GALT1]
        COG7-CDG (GDGDB) [COG7]
        COG1-CDG [COG1]
        COG8-CDG [COG8]
        COG5-CDG [COG5]
        COG4-CDG [COG4]
        ATP6VOA2-CDG [ATP6V0A2]
        POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
        POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
        Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
        Muscular dystrophy, limb-girdle, type 2M (GDGDB) [FKTN]
        Cardiomyopathy, dilated, 1X (GDGDB) [FKTN]
        Muscular dystrophy, congenital, type 1C (GDGDB) [FKRP]
        Muscular dystrophy, limb-girdle, type 2I (GDGDB) [FKRP]
        LARGE-CDG (cong. muscular dystrophy spectrum) [LARGE]
        B4GALT7-CDG [B4GALT7]
        Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
        ST3GAL5-CDG [SIAT9]
        ALG11-CDG [ALG11]
        SRD5A3-CDG [SRD5A3]
        DDOST-CDG [DDOST]
        ALG13-CDG [ALG13]
        TMEM165-CDG [TMEM165]
        COG6-CDG [COG6]
        Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [B3GAT3]
        Ehlers-Danlos syndrome, musculocontractural type [CHST14]
        Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
        Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
        
        Muscular Atrophy
        PMM2-CDG (GDGDB) [PMM2]
        MGAT2-CDG (GDGDB) [MGAT2]
        POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
        POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
        Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
        Muscular dystrophy, limb-girdle, type 2M (GDGDB) [FKTN]
        Cardiomyopathy, dilated, 1X (GDGDB) [FKTN]
        Muscular dystrophy, congenital, type 1C (GDGDB) [FKRP]
        Muscular dystrophy, limb-girdle, type 2I (GDGDB) [FKRP]
        LARGE-CDG (cong. muscular dystrophy spectrum) [LARGE]
        Duchenne muscular dystrophy [DMD]
        Hereditary inclusion body myopathy type 2 [GNE]
        Nonaka myopathy (GDGDB) [GNE]
        Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
        DPM3-CDG [DPM3]
        Myasthenia, congenital, with tubular aggregates 1 [GFPT1]
        
        Muscle Weakness
        PMM2-CDG (GDGDB) [PMM2]
        PMM2-CDG, infantile multisystem stage [PMM2]
        
        B4GALT1-CDG (GDGDB) [B4GALT1]
        POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
        POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
        Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
        Muscular dystrophy, limb-girdle, type 2M (GDGDB) [FKTN]
        Cardiomyopathy, dilated, 1X (GDGDB) [FKTN]
        Muscular dystrophy, congenital, type 1C (GDGDB) [FKRP]
        Muscular dystrophy, limb-girdle, type 2I (GDGDB) [FKRP]
        LARGE-CDG (cong. muscular dystrophy spectrum) [LARGE]
        Duchenne muscular dystrophy [DMD]
        Hereditary inclusion body myopathy type 2 [GNE]
        Nonaka myopathy (GDGDB) [GNE]
        Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
        DPM3-CDG [DPM3]
        TMEM165-CDG [TMEM165]
        Myasthenia, congenital, with tubular aggregates 1 [GFPT1]
        Ehlers-Danlos syndrome, musculocontractural type [CHST14]
        
        Pain
        Musculoskeletal Pain
        EXT1/EXT2-CDG [EXT1,EXT2]
        Autosomal recessive multiple epiphyseal dysplasia [SLC26A2]
        
        Paralysis
        Quadriplegia
        DOLK-CDG [TMEM15]
        
        Paresis
        Paraparesis
        Paraparesis, Spastic
        ALG3-CDG (GDGDB) [ALG3]
        
        Sensation Disorders
        Hearing Disorders
        Hearing Loss
        ST3GAL5-CDG [SIAT9]
        
        Vision Disorders
        Blindness
        PMM2-CDG (GDGDB) [PMM2]
        PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
        PMM2-CDG, adult stable disability stage [PMM2]
        
        ALG3-CDG (GDGDB) [ALG3]
        DPM1-CDG (GDGDB) [DPM1]
        ALG12-CDG (GDGDB) [ALG12]
        POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
        POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
        Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
        ST3GAL5-CDG [SIAT9]
        SRD5A3-CDG [SRD5A3]
        
        Vision, Low
        ALG3-CDG (GDGDB) [ALG3]
        MPDU1-CDG (GDGDB) [MPDU1]
        ALG1-CDG (GDGDB) [ALG1]
        POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
        POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
        Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
        B3GALTL-CDG [B3GALTL]
        ALG11-CDG [ALG11]
        
        Reflex, Abnormal
        PMM2-CDG (GDGDB) [PMM2]
        PMM2-CDG, infantile multisystem stage [PMM2]
        
        ALG3-CDG (GDGDB) [ALG3]
        ALG1-CDG (GDGDB) [ALG1]
        COG4-CDG [COG4]
        Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
        
        Dyskinesias
        Ataxia
        PMM2-CDG (GDGDB) [PMM2]
        PMM2-CDG, infantile multisystem stage [PMM2]
        PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
        PMM2-CDG, adult stable disability stage [PMM2]
        
        ALG6-CDG (GDGDB) [ALG6]
        DPM1-CDG (GDGDB) [DPM1]
        COG8-CDG [COG8]
        COG5-CDG [COG5]
        COG4-CDG [COG4]
        SRD5A3-CDG [SRD5A3]
        
        Myoclonus
        ALG6-CDG (GDGDB) [ALG6]
        RFT1-CDG [RFT1]
        COG8-CDG [COG8]
        POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
        ST3GAL5-CDG [SIAT9]
        
        Tremor
        DPAGT1-CDG (GDGDB) [DPAGT1]
        Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
        
        Seizures
        PMM2-CDG (GDGDB) [PMM2]
        PMM2-CDG, infantile multisystem stage [PMM2]
        PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
        PMM2-CDG, adult stable disability stage [PMM2]
        
        ALG6-CDG (GDGDB) [ALG6]
        ALG3-CDG (GDGDB) [ALG3]
        DPM1-CDG (GDGDB) [DPM1]
        MPDU1-CDG (GDGDB) [MPDU1]
        ALG12-CDG (GDGDB) [ALG12]
        ALG8-CDG (GDGDB) [ALG8]
        ALG2-CDG (GDGDB) [ALG2]
        DPAGT1-CDG (GDGDB) [DPAGT1]
        ALG1-CDG (GDGDB) [ALG1]
        ALG9-CDG (GDGDB) [ALG9]
        DOLK-CDG [TMEM15]
        RFT1-CDG [RFT1]
        MGAT2-CDG (GDGDB) [MGAT2]
        GCS1-CDG (GDGDB) [GCS1]
        SLC35C1-CDG (GDGDB) [SLC35C1]
        COG7-CDG (GDGDB) [COG7]
        COG8-CDG [COG8]
        COG4-CDG [COG4]
        ATP6VOA2-CDG [ATP6V0A2]
        POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
        POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
        Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
        ST3GAL5-CDG [SIAT9]
        PIGM-CDG [PIGM]
        ALG11-CDG [ALG11]
        ALG13-CDG [ALG13]
        COG6-CDG [COG6]
        Mental retardation, autosomal recessive 15 [MAN1B1]
        Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
        Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
        
        Neuromuscular Diseases
        Peripheral Nervous System Diseases
        Nerve Compression Syndromes
        EXT1/EXT2-CDG [EXT1,EXT2]
        
        Polyneuropathy
        PMM2-CDG (GDGDB) [PMM2]
        PMM2-CDG, infantile multisystem stage [PMM2]
        PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
        PMM2-CDG, adult stable disability stage [PMM2]
        
        DPM1-CDG (GDGDB) [DPM1]
        COG8-CDG [COG8]
        Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
        
        Muscular Diseases
        Muscular Disorders, Atrophic
        Muscular Dystrophies
        POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
        POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
        Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
        Muscular dystrophy, limb-girdle, type 2M (GDGDB) [FKTN]
        Cardiomyopathy, dilated, 1X (GDGDB) [FKTN]
        Muscular dystrophy, congenital, type 1C (GDGDB) [FKRP]
        Muscular dystrophy, limb-girdle, type 2I (GDGDB) [FKRP]
        LARGE-CDG (cong. muscular dystrophy spectrum) [LARGE]
        Duchenne muscular dystrophy [DMD]
        
        Cranial Nerve Diseases
        Ocular Motility Disorders
        RFT1-CDG [RFT1]
        Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
        Nystagmus, Pathologic
        Nystagmus, Congenital
        DPM1-CDG (GDGDB) [DPM1]
        DOLK-CDG [TMEM15]
        COG4-CDG [COG4]
        SRD5A3-CDG [SRD5A3]
        ALG13-CDG [ALG13]
        Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
        
        Strabismus
        PMM2-CDG (GDGDB) [PMM2]
        PMM2-CDG, infantile multisystem stage [PMM2]
        
        ALG6-CDG (GDGDB) [ALG6]
        ALG3-CDG (GDGDB) [ALG3]
        DPM1-CDG (GDGDB) [DPM1]
        Esotropia
        PMM2-CDG (GDGDB) [PMM2]
        PMM2-CDG, infantile multisystem stage [PMM2]
        
        ALG9-CDG (GDGDB) [ALG9]
        COG8-CDG [COG8]
        Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
        
        Exotropia
        DPAGT1-CDG (GDGDB) [DPAGT1]
        
        ALG11-CDG [ALG11]
        DDOST-CDG [DDOST]
        
        Optic Nerve Diseases
        Optic Atrophy
        ST3GAL5-CDG [SIAT9]
        Optic Atrophies, Hereditary
        ALG3-CDG (GDGDB) [ALG3]
        POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
        POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
        Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
        ST3GAL5-CDG [SIAT9]
        SRD5A3-CDG [SRD5A3]
        ALG13-CDG [ALG13]
        
        SRD5A3-CDG [SRD5A3]
        ALG13-CDG [ALG13]
        
        Otorhinolaryngologic Diseases
        Ear Diseases
        Otitis
        SLC35C1-CDG (GDGDB) [SLC35C1]
        DDOST-CDG [DDOST]
        
        Hearing Disorders
        Hearing Loss
        ALG12-CDG (GDGDB) [ALG12]
        RFT1-CDG [RFT1]
        MGAT2-CDG (GDGDB) [MGAT2]
        B3GALTL-CDG [B3GALTL]
        Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
        ALG11-CDG [ALG11]
        Temtamy preaxial brachydactyly syndrome [CHSY1]
        Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]
        Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
        
        Pharyngeal Diseases
        Deglutition Disorders
        DPM1-CDG (GDGDB) [DPM1]
        Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
        DDOST-CDG [DDOST]
        
        Pathological Conditions, Signs and Symptoms
        Pathologic Processes
        Growth Disorders
        Fetal Growth Retardation
        Diastrophic dysplasia [SLC26A2]
        Achondrogenesis type IB [SLC26A2]
        B3GALTL-CDG [B3GALTL]
        Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
        Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
        
        PMM2-CDG (GDGDB) [PMM2]
        PMM2-CDG, infantile multisystem stage [PMM2]
        
        MPI-CDG (GDGDB) [MPI]
        ALG3-CDG (GDGDB) [ALG3]
        MPDU1-CDG (GDGDB) [MPDU1]
        ALG12-CDG (GDGDB) [ALG12]
        ALG9-CDG (GDGDB) [ALG9]
        DOLK-CDG [TMEM15]
        RFT1-CDG [RFT1]
        MGAT2-CDG (GDGDB) [MGAT2]
        SLC35C1-CDG (GDGDB) [SLC35C1]
        COG7-CDG (GDGDB) [COG7]
        COG1-CDG [COG1]
        COG4-CDG [COG4]
        ATP6VOA2-CDG [ATP6V0A2]
        Diastrophic dysplasia [SLC26A2]
        Achondrogenesis type IB [SLC26A2]
        B3GALTL-CDG [B3GALTL]
        Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
        Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
        TMEM165-CDG [TMEM165]
        Temtamy preaxial brachydactyly syndrome [CHSY1]
        
        Hyperbilirubinemia
        Jaundice
        DPAGT1-CDG (GDGDB) [DPAGT1]
        COG7-CDG (GDGDB) [COG7]
        SEC23B-CDG (GDGDB) [SEC23B]
        
        Hemolysis
        Paroxysmal nocturnal hemoglobinuria, somatic (SOMATIC MUTATION) (GDGDB) [PIGA]
        
        Hemorrhage
        PMM2-CDG (GDGDB) [PMM2]
        MGAT2-CDG (GDGDB) [MGAT2]
        SLC35A1-CDG [SLC35A1]
        Gastrointestinal Hemorrhage
        MPI-CDG (GDGDB) [MPI]
        ALG11-CDG [ALG11]
        
        ALG13-CDG [ALG13]
        COG6-CDG [COG6]
        Ehlers-Danlos syndrome, musculocontractural type [CHST14]
        
        Inflammation
        Systemic Inflammatory Response Syndrome
        Sepsis
        COG4-CDG [COG4]
        
        Pathological Conditions, Anatomical
        Hernia
        Hernia, Abdominal
        Hernia, Inguinal
        ATP6VOA2-CDG [ATP6V0A2]
        Achondrogenesis type IB [SLC26A2]
        Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
        Bruck syndrome 2 (GDGDB) [PLOD2]
        Ehlers-Danlos syndrome, musculocontractural type [CHST14]
        
        Hernia, Ventral
        Hernia, Umbilical
        Achondrogenesis type IB [SLC26A2]
        
        Rupture, Spontaneous
        Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
        Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
        
        Signs and Symptoms
        Body Temperature Changes
        Fever
        COG7-CDG (GDGDB) [COG7]
        TMEM165-CDG [TMEM165]
        
        ALG11-CDG [ALG11]
        
        Edema
        Hydrops Fetalis
        PMM2-CDG (GDGDB) [PMM2]
        PMM2-CDG, infantile multisystem stage [PMM2]
        
        ALG1-CDG (GDGDB) [ALG1]
        SLC35D1-CDG [SLC35D1]
        
        ALG12-CDG (GDGDB) [ALG12]
        GCS1-CDG (GDGDB) [GCS1]
        Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
        ALG13-CDG [ALG13]
        
        Mobility Limitation
        PMM2-CDG (GDGDB) [PMM2]
        PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
        PMM2-CDG, adult stable disability stage [PMM2]
        
        ALG6-CDG (GDGDB) [ALG6]
        POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
        POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
        Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
        Muscular dystrophy, limb-girdle, type 2M (GDGDB) [FKTN]
        Cardiomyopathy, dilated, 1X (GDGDB) [FKTN]
        Muscular dystrophy, congenital, type 1C (GDGDB) [FKRP]
        Muscular dystrophy, limb-girdle, type 2I (GDGDB) [FKRP]
        LARGE-CDG (cong. muscular dystrophy spectrum) [LARGE]
        Duchenne muscular dystrophy [DMD]
        Hereditary inclusion body myopathy type 2 [GNE]
        Nonaka myopathy (GDGDB) [GNE]
        EXT1/EXT2-CDG [EXT1,EXT2]
        Diastrophic dysplasia [SLC26A2]
        Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
        ST3GAL5-CDG [SIAT9]
        DPM3-CDG [DPM3]
        Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]
        Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
        
        Signs and Symptoms, Digestive
        Constipation
        DDOST-CDG [DDOST]
        
        Diarrhea
        PMM2-CDG (GDGDB) [PMM2]
        PMM2-CDG, infantile multisystem stage [PMM2]
        
        MPI-CDG (GDGDB) [MPI]
        ALG3-CDG (GDGDB) [ALG3]
        ALG8-CDG (GDGDB) [ALG8]
        MGAT2-CDG (GDGDB) [MGAT2]
        COG4-CDG [COG4]
        COG6-CDG [COG6]
        
        Vomiting
        PMM2-CDG (GDGDB) [PMM2]
        PMM2-CDG, infantile multisystem stage [PMM2]
        
        MPI-CDG (GDGDB) [MPI]
        ALG3-CDG (GDGDB) [ALG3]
        ALG8-CDG (GDGDB) [ALG8]
        ST3GAL5-CDG [SIAT9]
        ALG11-CDG [ALG11]
        COG6-CDG [COG6]
        
        Abdominal Pain
        Paroxysmal nocturnal hemoglobinuria, somatic (SOMATIC MUTATION) (GDGDB) [PIGA]
        
        ALG3-CDG (GDGDB) [ALG3]
        MGAT2-CDG (GDGDB) [MGAT2]
        
        Urological Manifestations
        Proteinuria
        Hemoglobinuria
        Paroxysmal nocturnal hemoglobinuria, somatic (SOMATIC MUTATION) (GDGDB) [PIGA]
        
        Failure to Thrive
        PMM2-CDG (GDGDB) [PMM2]
        PMM2-CDG, infantile multisystem stage [PMM2]
        
        MPI-CDG (GDGDB) [MPI]
        ALG3-CDG (GDGDB) [ALG3]
        MPDU1-CDG (GDGDB) [MPDU1]
        ALG12-CDG (GDGDB) [ALG12]
        ALG9-CDG (GDGDB) [ALG9]
        DOLK-CDG [TMEM15]
        RFT1-CDG [RFT1]
        MGAT2-CDG (GDGDB) [MGAT2]
        SLC35C1-CDG (GDGDB) [SLC35C1]
        COG7-CDG (GDGDB) [COG7]
        COG1-CDG [COG1]
        COG8-CDG [COG8]
        COG4-CDG [COG4]
        ATP6VOA2-CDG [ATP6V0A2]
        ST3GAL5-CDG [SIAT9]
        ALG11-CDG [ALG11]
        DDOST-CDG [DDOST]
        COG6-CDG [COG6]
        
        Fatigue
        Paroxysmal nocturnal hemoglobinuria, somatic (SOMATIC MUTATION) (GDGDB) [PIGA]
        PGM1-CDG [PGM1]
        
        Reticulocytosis
        SEC23B-CDG (GDGDB) [SEC23B]
        
        Virilism
        ALG6-CDG (GDGDB) [ALG6]
        
        Respiratory Tract Diseases
        Lung Diseases
        ALG8-CDG (GDGDB) [ALG8]
        Muscular dystrophy, limb-girdle, type 2I (GDGDB) [FKRP]
        TMEM165-CDG [TMEM165]
        
        Respiration Disorders
        Apnea
        GCS1-CDG (GDGDB) [GCS1]
        
        Dyspnea
        ALG8-CDG (GDGDB) [ALG8]
        PGM1-CDG [PGM1]
        
        Respiratory Insufficiency
        Hypoventilation
        GCS1-CDG (GDGDB) [GCS1]
        
        DPAGT1-CDG (GDGDB) [DPAGT1]
        ALG1-CDG (GDGDB) [ALG1]
        GCS1-CDG (GDGDB) [GCS1]
        Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
        Muscular dystrophy, congenital, type 1C (GDGDB) [FKRP]
        Muscular dystrophy, limb-girdle, type 2I (GDGDB) [FKRP]
        Diastrophic dysplasia [SLC26A2]
        Achondrogenesis type IB [SLC26A2]
        Neonatal osseous dysplasia I [SLC26A2]
        
        MPDU1-CDG (GDGDB) [MPDU1]
        DPAGT1-CDG (GDGDB) [DPAGT1]
        
        Respiratory Tract Infections
        ALG12-CDG (GDGDB) [ALG12]
        DOLK-CDG [TMEM15]
        MGAT2-CDG (GDGDB) [MGAT2]
        SLC35C1-CDG (GDGDB) [SLC35C1]
        SLC35A1-CDG [SLC35A1]
        COG4-CDG [COG4]
        Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
        ALG13-CDG [ALG13]
        COG6-CDG [COG6]
        
        Respiratory Hypersensitivity
        Asthma
        ALG9-CDG (GDGDB) [ALG9]
        
        Ehlers-Danlos syndrome, musculocontractural type [CHST14]
        
        Skin and Connective Tissue Diseases
        Connective Tissue Diseases
        Cutis Laxa
        COG7-CDG (GDGDB) [COG7]
        ATP6VOA2-CDG [ATP6V0A2]
        B4GALT7-CDG [B4GALT7]
        
        Collagen Diseases
        Ehlers-Danlos Syndrome
        Osteogenesis Imperfecta
        Bruck syndrome 2 (GDGDB) [PLOD2]
        TMEM165-CDG [TMEM165]
        Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]
        
        B4GALT7-CDG [B4GALT7]
        Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
        Cartilage Diseases
        Spondyloepimetaphyseal dysplasia, pakistani type [PAPSS2]
        Diastrophic dysplasia [SLC26A2]
        Achondrogenesis type IB [SLC26A2]
        Neonatal osseous dysplasia I [SLC26A2]
        Autosomal recessive multiple epiphyseal dysplasia [SLC26A2]
        SLC35D1-CDG [SLC35D1]
        
        Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]
        Ehlers-Danlos syndrome, musculocontractural type [CHST14]
        
        Skin Diseases
        Skin Abnormalities
        Ichthyosis
        DOLK-CDG [TMEM15]
        SRD5A3-CDG [SRD5A3]
        
        PMM2-CDG (GDGDB) [PMM2]
        PMM2-CDG, infantile multisystem stage [PMM2]
        
        MPDU1-CDG (GDGDB) [MPDU1]
        GALNT3-CDG [GALNT3]
        Ehlers-Danlos Syndrome
        Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
        
        ALG11-CDG [ALG11]
        Ehlers-Danlos syndrome, musculocontractural type [CHST14]
        
        Dermatitis
        Dermatitis, Exfoliative
        MPDU1-CDG (GDGDB) [MPDU1]
        
        Hair Diseases
        Hypotrichosis
        Alopecia
        DOLK-CDG [TMEM15]
        
        Hypertrichosis
        SRD5A3-CDG [SRD5A3]
        
        Skin Diseases, Genetic
        Ehlers-Danlos Syndrome
        Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
        
        ALG11-CDG [ALG11]
        SRD5A3-CDG [SRD5A3]
        Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [B3GAT3]
        Ehlers-Danlos syndrome, musculocontractural type [CHST14]
        
        Stomatognathic Diseases
        Mouth Diseases
        Tongue Diseases
        Macroglossia
        Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
        Muscular dystrophy, congenital, type 1C (GDGDB) [FKRP]
        LARGE-CDG (cong. muscular dystrophy spectrum) [LARGE]
        
        Stomatognathic System Abnormalities
        Mouth Abnormalities
        Cleft Lip
        B3GALTL-CDG [B3GALTL]
        Cleft Palate
        Diastrophic dysplasia [SLC26A2]
        Neonatal osseous dysplasia I [SLC26A2]
        Autosomal recessive multiple epiphyseal dysplasia [SLC26A2]
        SLC35D1-CDG [SLC35D1]
        B3GALTL-CDG [B3GALTL]
        PGM1-CDG [PGM1]
        Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [B3GAT3]
        Temtamy preaxial brachydactyly syndrome [CHSY1]
        Ehlers-Danlos syndrome, musculocontractural type [CHST14]
        Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
        
        Tooth Abnormalities
        Dental Enamel Hypoplasia
        GALNT3-CDG [GALNT3]
        
        B4GALT7-CDG [B4GALT7]
        Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
        Mental retardation, autosomal recessive 12 [ST3GAL3]
        Temtamy preaxial brachydactyly syndrome [CHSY1]
        Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]
        
        Maxillofacial Abnormalities
        Jaw Abnormalities
        Cleft Palate
        Diastrophic dysplasia [SLC26A2]
        Neonatal osseous dysplasia I [SLC26A2]
        Autosomal recessive multiple epiphyseal dysplasia [SLC26A2]
        SLC35D1-CDG [SLC35D1]
        B3GALTL-CDG [B3GALTL]
        PGM1-CDG [PGM1]
        Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [B3GAT3]
        Temtamy preaxial brachydactyly syndrome [CHSY1]
        Ehlers-Danlos syndrome, musculocontractural type [CHST14]
        Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
        
        Micrognathism
        DPAGT1-CDG (GDGDB) [DPAGT1]
        ALG1-CDG (GDGDB) [ALG1]
        COG7-CDG (GDGDB) [COG7]
        COG1-CDG [COG1]
        B3GALTL-CDG [B3GALTL]
        ALG13-CDG [ALG13]
        Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [B3GAT3]
        Temtamy preaxial brachydactyly syndrome [CHSY1]
        
        Retrognathia
        COG6-CDG [COG6]
        
        Pierre Robin Syndrome
        PGM1-CDG [PGM1]
        
        Immune System Diseases
        Autoimmune Diseases
        Anemia, Hemolytic, Autoimmune
        Tn polyagglutination syndrome, somatic (SOMATIC MUTATION) [C1GALT1C1]
        
        Immunologic Deficiency Syndromes
        Dysgammaglobulinemia
        ALG12-CDG (GDGDB) [ALG12]
        ALG1-CDG (GDGDB) [ALG1]
        COG6-CDG [COG6]
        
        Leukocyte-Adhesion Deficiency Syndrome
        SLC35C1-CDG (GDGDB) [SLC35C1]
        
        PMM2-CDG (GDGDB) [PMM2]
        PMM2-CDG, infantile multisystem stage [PMM2]
        
        ALG12-CDG (GDGDB) [ALG12]
        ALG1-CDG (GDGDB) [ALG1]
        SLC35C1-CDG (GDGDB) [SLC35C1]
        SLC35A1-CDG [SLC35A1]
        COG6-CDG [COG6]
        
        Nutritional and Metabolic Diseases
        Metabolic Diseases
        Calcium Metabolism Disorders
        Calcinosis
        Vascular Calcification
        GALNT3-CDG [GALNT3]
        
        Spondyloepimetaphyseal dysplasia, pakistani type [PAPSS2]
        Diastrophic dysplasia [SLC26A2]
        GALNT3-CDG [GALNT3]
        
        Glucose Metabolism Disorders
        Hyperinsulinism
        Insulin Resistance
        PMM2-CDG (GDGDB) [PMM2]
        PMM2-CDG, adult stable disability stage [PMM2]
        
        PMM2-CDG (GDGDB) [PMM2]
        PMM2-CDG, adult stable disability stage [PMM2]
        
        Hypoglycemia
        PMM2-CDG (GDGDB) [PMM2]
        PMM2-CDG, adult stable disability stage [PMM2]
        
        MPI-CDG (GDGDB) [MPI]
        DOLK-CDG [TMEM15]
        
        Phosphorus Metabolism Disorders
        Hyperphosphatemia
        GALNT3-CDG [GALNT3]
        
        Nutrition Disorders
        Overnutrition
        Obesity
        Mental retardation, autosomal recessive 15 [MAN1B1]
        
        Wounds and Injuries
        Dislocations
        Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
        Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [B3GAT3]
        Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]
        
        Fractures, Bone
        Fractures, Spontaneous
        Bruck syndrome 2 (GDGDB) [PLOD2]
        Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
        
        Psychiatry and Psychology
        Behavior and Behavior Mechanisms
        Emotions
        Affect
        Irritable Mood
        ST3GAL5-CDG [SIAT9]
        
        Mental Disorders
        Mental Disorders Diagnosed in Childhood
        Developmental Disabilities
        PMM2-CDG (GDGDB) [PMM2]
        PMM2-CDG, infantile multisystem stage [PMM2]
        PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
        
        ALG6-CDG (GDGDB) [ALG6]
        ALG3-CDG (GDGDB) [ALG3]
        DPM1-CDG (GDGDB) [DPM1]
        MPDU1-CDG (GDGDB) [MPDU1]
        ALG12-CDG (GDGDB) [ALG12]
        ALG2-CDG (GDGDB) [ALG2]
        DPAGT1-CDG (GDGDB) [DPAGT1]
        ALG1-CDG (GDGDB) [ALG1]
        ALG9-CDG (GDGDB) [ALG9]
        DOLK-CDG [TMEM15]
        RFT1-CDG [RFT1]
        MGAT2-CDG (GDGDB) [MGAT2]
        SLC35C1-CDG (GDGDB) [SLC35C1]
        B4GALT1-CDG (GDGDB) [B4GALT1]
        COG1-CDG [COG1]
        COG4-CDG [COG4]
        ATP6VOA2-CDG [ATP6V0A2]
        POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
        POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
        Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
        LARGE-CDG (cong. muscular dystrophy spectrum) [LARGE]
        B4GALT7-CDG [B4GALT7]
        B3GALTL-CDG [B3GALTL]
        Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
        ST3GAL5-CDG [SIAT9]
        ALG11-CDG [ALG11]
        SRD5A3-CDG [SRD5A3]
        DDOST-CDG [DDOST]
        COG6-CDG [COG6]
        Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
        Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
        
        Feeding and Eating Disorders of Childhood
        PMM2-CDG (GDGDB) [PMM2]
        PMM2-CDG, infantile multisystem stage [PMM2]
        
        MPDU1-CDG (GDGDB) [MPDU1]
        ALG12-CDG (GDGDB) [ALG12]
        ALG8-CDG (GDGDB) [ALG8]
        DPAGT1-CDG (GDGDB) [DPAGT1]
        RFT1-CDG [RFT1]
        MGAT2-CDG (GDGDB) [MGAT2]
        GCS1-CDG (GDGDB) [GCS1]
        COG7-CDG (GDGDB) [COG7]
        COG1-CDG [COG1]
        COG4-CDG [COG4]
        ATP6VOA2-CDG [ATP6V0A2]
        Muscular dystrophy, congenital, type 1C (GDGDB) [FKRP]
        B3GALTL-CDG [B3GALTL]
        ST3GAL5-CDG [SIAT9]
        ALG11-CDG [ALG11]
        ALG13-CDG [ALG13]
        
        Motor Skills Disorders
        PMM2-CDG (GDGDB) [PMM2]
        PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
        
        ALG6-CDG (GDGDB) [ALG6]
        ALG12-CDG (GDGDB) [ALG12]
        B4GALT1-CDG (GDGDB) [B4GALT1]
        COG1-CDG [COG1]
        COG5-CDG [COG5]
        COG4-CDG [COG4]
        ATP6VOA2-CDG [ATP6V0A2]
        POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
        POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
        Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
        Muscular dystrophy, limb-girdle, type 2M (GDGDB) [FKTN]
        Muscular dystrophy, congenital, type 1C (GDGDB) [FKRP]
        Muscular dystrophy, limb-girdle, type 2I (GDGDB) [FKRP]
        LARGE-CDG (cong. muscular dystrophy spectrum) [LARGE]
        Duchenne muscular dystrophy [DMD]
        Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
        ST3GAL5-CDG [SIAT9]
        SRD5A3-CDG [SRD5A3]
        DDOST-CDG [DDOST]
        Ehlers-Danlos syndrome, musculocontractural type [CHST14]
        Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
        
        Intellectual Disability
        PMM2-CDG (GDGDB) [PMM2]
        PMM2-CDG, infantile multisystem stage [PMM2]
        PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
        PMM2-CDG, adult stable disability stage [PMM2]
        
        ALG6-CDG (GDGDB) [ALG6]
        ALG3-CDG (GDGDB) [ALG3]
        ALG12-CDG (GDGDB) [ALG12]
        ALG2-CDG (GDGDB) [ALG2]
        DPAGT1-CDG (GDGDB) [DPAGT1]
        SLC35C1-CDG (GDGDB) [SLC35C1]
        COG1-CDG [COG1]
        COG8-CDG [COG8]
        COG5-CDG [COG5]
        TUSC3-CDG [TUSC3]
        ATP6VOA2-CDG [ATP6V0A2]
        POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
        POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
        Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
        Muscular dystrophy, congenital, type 1C (GDGDB) [FKRP]
        LARGE-CDG (cong. muscular dystrophy spectrum) [LARGE]
        B4GALT7-CDG [B4GALT7]
        B3GALTL-CDG [B3GALTL]
        ST3GAL5-CDG [SIAT9]
        ALG11-CDG [ALG11]
        SRD5A3-CDG [SRD5A3]
        Mental retardation, autosomal recessive 15 [MAN1B1]
        Mental retardation, autosomal recessive 12 [ST3GAL3]
        Temtamy preaxial brachydactyly syndrome [CHSY1]
        Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
        
        Learning Disorders
        Temtamy preaxial brachydactyly syndrome [CHSY1]
        Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
    - Lysosomal Storage Diseases (degradation)
      - Pathogenesis
        Genetic disorders of glycan degradation
        Disorders of glycoprotein metabolism
        Defects in glycoprotein degradation
        Aspartylglucosaminuria (GDGDB) [AGA]
        Fucosidosis (GDGDB) [FUCA1]
        Mannosidase deficiency diseases
        Alpha-mannosidosis (GDGDB) [MAN2B1]
        Alpha-mannosidosis, type I (early-onset) [MAN2B1]
        Alpha-mannosidosis, type II (later-onset) [MAN2B1]
        
        Beta-mannosidosis (GDGDB) [MANBA]
        
        Sialidosis (GDGDB) [NEU1]
        Sialidosis type I [NEU1]
        Sialidosis type II [NEU1]
        Sialidosis type II, congenital form [NEU1]
        Sialidosis type II, infantile form [NEU1]
        Sialidosis type II, juvenile form [NEU1]
        
        Other disorders of glycoprotein metabolism
        Schindler disease
        Schindler disease, type I (GDGDB) [NAGA]
        Schindler disease, type II (GDGDB) [NAGA]
        
        Galactosialidosis (GDGDB) [CTSA]
        
        Defects in post-translational modification of lysosomal enzymes
        Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
        Mucolipidosis III (alpha/beta) (GDGDB) [GNPTAB]
        
        Disorders of glycosaminoglycan metabolism
        Mucopolysaccharidosis I
        Hurler syndrome (GDGDB) [IDUA]
        Hurler-Scheie syndrome (GDGDB) [IDUA]
        Scheie syndrome (GDGDB) [IDUA]
        
        Mucopolysaccharidosis II (GDGDB) [IDS]
        Mucopolysaccharidosis III
        Sanfilippo syndrome A (GDGDB) [SGSH]
        Sanfilippo syndrome B (GDGDB) [NAGLU]
        Sanfilippo syndrome C (GDGDB) [HGSNAT]
        Sanfilippo syndrome D (GDGDB) [GNS]
        
        Mucopolysaccharidosis IV
        Morquio syndrome A (GDGDB) [GALNS]
        Morquio syndrome B (GDGDB) [GLB1]
        
        Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
        Maroteaux-Lamy syndrome, severe form [ARSB]
        Maroteaux-Lamy syndrome, mild form [ARSB]
        Maroteaux-Lamy syndrome, intermediate form [ARSB]
        
        Mucopolysaccharidosis VII (GDGDB) [GUSB]
        
        Disorders of sphingolipid metabolism and other lipid storage disorders
        Sphingolipidosis
        Gangliosidosis
        GM1 gangliosidosis
        GM1-gangliosidosis, type I (GDGDB) [GLB1]
        GM1-gangliosidosis, type II (GDGDB) [GLB1]
        GM1-gangliosidosis, type III (GDGDB) [GLB1]
        
        GM2 gangliosidosis
        Tay-Sachs disease (GDGDB) [HEXA]
        Tay-Sachs disease, infantile form [HEXA]
        Tay-Sachs disease, late-onset forms [HEXA]
        
        Sandhoff disease (GDGDB) [HEXB]
        Sandhoff disease, infantile form [HEXB]
        Sandhoff disease, juvenile form [HEXB]
        Sandhoff disease, adult form [HEXB]
        
        GM2-gangliosidosis, AB variant (GDGDB) [GM2A]
        
        Other sphingolipidosis
        Fabry disease (GDGDB) [GLA]
        Gaucher disease
        Gaucher disease, type I (GDGDB) [GBA]
        Gaucher disease, type II (GDGDB) [GBA]
        Gaucher disease, type II, neuronopathic form, classic type [GBA]
        Gaucher disease, type II, perinatal lethal form [GBA]
        
        Gaucher disease, type III (GDGDB) [GBA]
        Gaucher disease, type IIIC (GDGDB) [GBA]
        Gaucher disease, atypical, due to saposin C deficiency (GDGDB) [PSAP]
        
        Krabbe disease (GDGDB) [GALC]
        Krabbe disease, infantile form [GALC]
        Krabbe disease, late-onset form [GALC]
        
        Sulfatidosis
        Multiple sulfatase deficiency (GDGDB) [SUMF1]
        Metachromatic leukodystrophy
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, infantile form [ARSA]
        Metachromatic leukodystrophy, juvenile form [ARSA]
        Metachromatic leukodystrophy, adult form [ARSA]
        
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
        
        Niemann-Pick disease
        Niemann-Pick disease, type A (GDGDB) [SMPD1]
        Niemann-Pick disease, type B (GDGDB) [SMPD1]
        Niemann-Pick disease, type C
        Niemann-Pick disease, type C1 (GDGDB) [NPC1]
        Niemann-Pick disease, type C2 (GDGDB) [NPC2]
        
        Farber Lipogranulomatosis (GDGDB) [ASAH1]
        Farber Lipogranulomatosis, type 1 [ASAH1]
        Farber Lipogranulomatosis, type 2 [ASAH1]
        Farber Lipogranulomatosis, type 3 [ASAH1]
        Farber Lipogranulomatosis, type 4 [ASAH1]
        Farber Lipogranulomatosis, type 5 [ASAH1]
        
        Sphingolipidosis, unspecified
        Combined saposin deficiency (GDGDB) [PSAP]
        
        Other lipid storage disorders
        Wolman disease (GDGDB) [LIPA]
        
        Other disorders of carbohydrate metabolism
        Glycogen storage diseases
        Pompe disease (GDGDB) [GAA]
        Pompe disease, infantile-onset form [GAA]
        Pompe disease, late-onset form [GAA]
      - Hereditary disorders by systems
        Genetic disorders of glycan degradation (by systems, signs and symptoms)
        Diseases
        Cardiovascular Diseases
        Cardiovascular Abnormalities
        Heart Defects, Congenital
        Mucopolysaccharidosis II (GDGDB) [IDS]
        Pompe disease (GDGDB) [GAA]
        Pompe disease, infantile-onset form [GAA]
        
        Heart Diseases
        Cardiomegaly
        Schindler disease
        Galactosialidosis (GDGDB) [CTSA]
        Mucopolysaccharidosis II (GDGDB) [IDS]
        GM1-gangliosidosis, type I (GDGDB) [GLB1]
        GM1-gangliosidosis, type II (GDGDB) [GLB1]
        GM1-gangliosidosis, type III (GDGDB) [GLB1]
        Pompe disease (GDGDB) [GAA]
        Pompe disease, infantile-onset form [GAA]
        
        Heart Failure
        Mucopolysaccharidosis I
        Mucopolysaccharidosis II (GDGDB) [IDS]
        Mucopolysaccharidosis III
        Mucopolysaccharidosis IV
        Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
        Mucopolysaccharidosis VII (GDGDB) [GUSB]
        Pompe disease (GDGDB) [GAA]
        Pompe disease, infantile-onset form [GAA]
        
        Heart Valve Diseases
        Galactosialidosis (GDGDB) [CTSA]
        Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
        Mucolipidosis III (alpha/beta) (GDGDB) [GNPTAB]
        Hurler syndrome (GDGDB) [IDUA]
        Hurler-Scheie syndrome (GDGDB) [IDUA]
        Scheie syndrome (GDGDB) [IDUA]
        Mucopolysaccharidosis II (GDGDB) [IDS]
        Mucopolysaccharidosis III
        Morquio syndrome A (GDGDB) [GALNS]
        Morquio syndrome B (GDGDB) [GLB1]
        Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
        Mucopolysaccharidosis VII (GDGDB) [GUSB]
        Gaucher disease, type IIIC (GDGDB) [GBA]
        
        Hurler syndrome (GDGDB) [IDUA]
        Hurler-Scheie syndrome (GDGDB) [IDUA]
        Scheie syndrome (GDGDB) [IDUA]
        Mucopolysaccharidosis II (GDGDB) [IDS]
        Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
        Mucopolysaccharidosis VII (GDGDB) [GUSB]
        GM1-gangliosidosis, type I (GDGDB) [GLB1]
        GM1-gangliosidosis, type II (GDGDB) [GLB1]
        GM1-gangliosidosis, type III (GDGDB) [GLB1]
        Gaucher disease, type IIIC (GDGDB) [GBA]
        Pompe disease (GDGDB) [GAA]
        Myocardial Ischemia
        Coronary Disease
        Coronary Artery Disease
        Hurler syndrome (GDGDB) [IDUA]
        Hurler-Scheie syndrome (GDGDB) [IDUA]
        Scheie syndrome (GDGDB) [IDUA]
        Mucopolysaccharidosis II (GDGDB) [IDS]
        Mucopolysaccharidosis III
        Mucopolysaccharidosis IV
        Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
        Mucopolysaccharidosis VII (GDGDB) [GUSB]
        Niemann-Pick disease, type B (GDGDB) [SMPD1]
        
        Myocardial Infarction
        Fabry disease (GDGDB) [GLA]
        
        Vascular Diseases
        Peripheral Vascular Diseases
        Mucopolysaccharidosis I
        Mucopolysaccharidosis II (GDGDB) [IDS]
        Mucopolysaccharidosis III
        Mucopolysaccharidosis IV
        Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
        Mucopolysaccharidosis VII (GDGDB) [GUSB]
        
        Cerebrovascular Disorders
        Stroke
        Fabry disease (GDGDB) [GLA]
        
        Myocardial Ischemia
        Coronary Disease
        Coronary Artery Disease
        Hurler syndrome (GDGDB) [IDUA]
        Hurler-Scheie syndrome (GDGDB) [IDUA]
        Scheie syndrome (GDGDB) [IDUA]
        Mucopolysaccharidosis II (GDGDB) [IDS]
        Mucopolysaccharidosis III
        Mucopolysaccharidosis IV
        Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
        Mucopolysaccharidosis VII (GDGDB) [GUSB]
        Niemann-Pick disease, type B (GDGDB) [SMPD1]
        
        Myocardial Infarction
        Fabry disease (GDGDB) [GLA]
        
        Digestive System Diseases
        Gastrointestinal Diseases
        Fabry disease (GDGDB) [GLA]
        
        Liver Diseases
        Hepatomegaly
        Fucosidosis (GDGDB) [FUCA1]
        Alpha-mannosidosis (GDGDB) [MAN2B1]
        Sialidosis (GDGDB) [NEU1]
        Schindler disease
        Galactosialidosis (GDGDB) [CTSA]
        Hurler syndrome (GDGDB) [IDUA]
        Hurler-Scheie syndrome (GDGDB) [IDUA]
        Scheie syndrome (GDGDB) [IDUA]
        Mucopolysaccharidosis II (GDGDB) [IDS]
        Sanfilippo syndrome A (GDGDB) [SGSH]
        Sanfilippo syndrome B (GDGDB) [NAGLU]
        Sanfilippo syndrome C (GDGDB) [HGSNAT]
        Sanfilippo syndrome D (GDGDB) [GNS]
        Morquio syndrome A (GDGDB) [GALNS]
        Morquio syndrome B (GDGDB) [GLB1]
        Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
        Mucopolysaccharidosis VII (GDGDB) [GUSB]
        GM1-gangliosidosis, type I (GDGDB) [GLB1]
        GM1-gangliosidosis, type II (GDGDB) [GLB1]
        GM1-gangliosidosis, type III (GDGDB) [GLB1]
        Sandhoff disease (GDGDB) [HEXB]
        Gaucher disease, type I (GDGDB) [GBA]
        Gaucher disease, type II (GDGDB) [GBA]
        Gaucher disease, type III (GDGDB) [GBA]
        Gaucher disease, type IIIC (GDGDB) [GBA]
        Gaucher disease, atypical, due to saposin C deficiency (GDGDB) [PSAP]
        Multiple sulfatase deficiency (GDGDB) [SUMF1]
        Niemann-Pick disease, type A (GDGDB) [SMPD1]
        Niemann-Pick disease, type B (GDGDB) [SMPD1]
        Niemann-Pick disease, type C1 (GDGDB) [NPC1]
        Niemann-Pick disease, type C2 (GDGDB) [NPC2]
        Farber Lipogranulomatosis (GDGDB) [ASAH1]
        Combined saposin deficiency (GDGDB) [PSAP]
        Wolman disease (GDGDB) [LIPA]
        Pompe disease (GDGDB) [GAA]
        Pompe disease, infantile-onset form [GAA]
        
        Niemann-Pick disease, type C1 (GDGDB) [NPC1]
        Niemann-Pick disease, type C2 (GDGDB) [NPC2]
        
        Endocrine System Diseases
        Adrenal Gland Diseases
        Wolman disease (GDGDB) [LIPA]
        
        Eye Diseases
        Corneal Diseases
        Corneal Opacity
        Mucolipidosis III (alpha/beta) (GDGDB) [GNPTAB]
        Hurler syndrome (GDGDB) [IDUA]
        Hurler-Scheie syndrome (GDGDB) [IDUA]
        Scheie syndrome (GDGDB) [IDUA]
        Morquio syndrome A (GDGDB) [GALNS]
        Morquio syndrome B (GDGDB) [GLB1]
        Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
        Mucopolysaccharidosis VII (GDGDB) [GUSB]
        GM1-gangliosidosis, type I (GDGDB) [GLB1]
        GM1-gangliosidosis, type II (GDGDB) [GLB1]
        GM1-gangliosidosis, type III (GDGDB) [GLB1]
        Fabry disease (GDGDB) [GLA]
        Gaucher disease, type IIIC (GDGDB) [GBA]
        
        Eye Abnormalities
        Gaucher disease, type IIIC (GDGDB) [GBA]
        
        Lens Diseases
        Cataract
        Alpha-mannosidosis (GDGDB) [MAN2B1]
        
        Ocular Hypertension
        Glaucoma
        Hurler syndrome (GDGDB) [IDUA]
        Hurler-Scheie syndrome (GDGDB) [IDUA]
        Scheie syndrome (GDGDB) [IDUA]
        
        Retinal Diseases
        Retinal Degeneration
        Sialidosis (GDGDB) [NEU1]
        Sialidosis type I [NEU1]
        Sialidosis type II [NEU1]
        Sialidosis type II, infantile form [NEU1]
        Sialidosis type II, juvenile form [NEU1]
        
        Galactosialidosis (GDGDB) [CTSA]
        Hurler syndrome (GDGDB) [IDUA]
        Mucopolysaccharidosis II (GDGDB) [IDS]
        Mucopolysaccharidosis VII (GDGDB) [GUSB]
        GM1-gangliosidosis, type I (GDGDB) [GLB1]
        GM1-gangliosidosis, type II (GDGDB) [GLB1]
        GM1-gangliosidosis, type III (GDGDB) [GLB1]
        Tay-Sachs disease (GDGDB) [HEXA]
        Sandhoff disease (GDGDB) [HEXB]
        GM2-gangliosidosis, AB variant (GDGDB) [GM2A]
        Krabbe disease (GDGDB) [GALC]
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
        Niemann-Pick disease, type A (GDGDB) [SMPD1]
        Farber Lipogranulomatosis (GDGDB) [ASAH1]
        Farber Lipogranulomatosis, type 1 [ASAH1]
        Farber Lipogranulomatosis, type 5 [ASAH1]
        
        Optic Nerve Diseases
        Optic Atrophy
        Optic Atrophies, Hereditary
        Combined saposin deficiency (GDGDB) [PSAP]
        
        Ocular Motility Disorders
        Gaucher disease, type II (GDGDB) [GBA]
        Gaucher disease, type III (GDGDB) [GBA]
        Gaucher disease, type IIIC (GDGDB) [GBA]
        Niemann-Pick disease, type C1 (GDGDB) [NPC1]
        Niemann-Pick disease, type C2 (GDGDB) [NPC2]
        
        Female Urogenital Diseases and Pregnancy Complications
        Female Urogenital Diseases
        Urologic Diseases
        Kidney Diseases
        Galactosialidosis (GDGDB) [CTSA]
        Fabry disease (GDGDB) [GLA]
        Renal Insufficiency
        Galactosialidosis (GDGDB) [CTSA]
        Fabry disease (GDGDB) [GLA]
        
        Hemic and Lymphatic Diseases
        Hematologic Diseases
        Anemia
        Gaucher disease, type I (GDGDB) [GBA]
        Gaucher disease, type II (GDGDB) [GBA]
        Gaucher disease, type III (GDGDB) [GBA]
        Wolman disease (GDGDB) [LIPA]
        
        Blood Platelet Disorders
        Thrombocytopenia
        Gaucher disease, type I (GDGDB) [GBA]
        Gaucher disease, type II (GDGDB) [GBA]
        Gaucher disease, type III (GDGDB) [GBA]
        Niemann-Pick disease, type B (GDGDB) [SMPD1]
        
        Hemorrhagic Disorders
        Gaucher disease, type I (GDGDB) [GBA]
        Gaucher disease, type II (GDGDB) [GBA]
        Gaucher disease, type III (GDGDB) [GBA]
        
        Lymphatic Diseases
        Histiocytosis
        Niemann-Pick disease, type A (GDGDB) [SMPD1]
        Niemann-Pick disease, type B (GDGDB) [SMPD1]
        Niemann-Pick disease, type C
        
        Splenic Diseases
        Fucosidosis (GDGDB) [FUCA1]
        Alpha-mannosidosis (GDGDB) [MAN2B1]
        Sialidosis (GDGDB) [NEU1]
        Schindler disease
        Galactosialidosis (GDGDB) [CTSA]
        Hurler syndrome (GDGDB) [IDUA]
        Hurler-Scheie syndrome (GDGDB) [IDUA]
        Scheie syndrome (GDGDB) [IDUA]
        Mucopolysaccharidosis II (GDGDB) [IDS]
        Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
        Mucopolysaccharidosis VII (GDGDB) [GUSB]
        GM1-gangliosidosis, type I (GDGDB) [GLB1]
        GM1-gangliosidosis, type II (GDGDB) [GLB1]
        GM1-gangliosidosis, type III (GDGDB) [GLB1]
        Tay-Sachs disease (GDGDB) [HEXA]
        Tay-Sachs disease, infantile form [HEXA]
        Tay-Sachs disease, late-onset forms [HEXA]
        
        Sandhoff disease (GDGDB) [HEXB]
        Gaucher disease, type I (GDGDB) [GBA]
        Gaucher disease, type II (GDGDB) [GBA]
        Gaucher disease, type III (GDGDB) [GBA]
        Gaucher disease, type IIIC (GDGDB) [GBA]
        Gaucher disease, atypical, due to saposin C deficiency (GDGDB) [PSAP]
        Multiple sulfatase deficiency (GDGDB) [SUMF1]
        Niemann-Pick disease, type A (GDGDB) [SMPD1]
        Niemann-Pick disease, type B (GDGDB) [SMPD1]
        Niemann-Pick disease, type C1 (GDGDB) [NPC1]
        Niemann-Pick disease, type C2 (GDGDB) [NPC2]
        Farber Lipogranulomatosis (GDGDB) [ASAH1]
        Combined saposin deficiency (GDGDB) [PSAP]
        Wolman disease (GDGDB) [LIPA]
        
        Male Urogenital Diseases
        Urologic Diseases
        Kidney Diseases
        Galactosialidosis (GDGDB) [CTSA]
        Fabry disease (GDGDB) [GLA]
        Renal Insufficiency
        Galactosialidosis (GDGDB) [CTSA]
        Fabry disease (GDGDB) [GLA]
        
        Musculoskeletal Diseases
        Bone Diseases
        Bone Diseases, Developmental
        Dwarfism
        Sialidosis (GDGDB) [NEU1]
        Galactosialidosis (GDGDB) [CTSA]
        Mucolipidosis III (alpha/beta) (GDGDB) [GNPTAB]
        Hurler syndrome (GDGDB) [IDUA]
        Hurler-Scheie syndrome (GDGDB) [IDUA]
        Scheie syndrome (GDGDB) [IDUA]
        Mucopolysaccharidosis II (GDGDB) [IDS]
        Sanfilippo syndrome A (GDGDB) [SGSH]
        Sanfilippo syndrome B (GDGDB) [NAGLU]
        Sanfilippo syndrome C (GDGDB) [HGSNAT]
        Sanfilippo syndrome D (GDGDB) [GNS]
        Morquio syndrome A (GDGDB) [GALNS]
        Morquio syndrome B (GDGDB) [GLB1]
        Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
        Mucopolysaccharidosis VII (GDGDB) [GUSB]
        Niemann-Pick disease, type B (GDGDB) [SMPD1]
        
        Dysostoses
        Aspartylglucosaminuria (GDGDB) [AGA]
        Fucosidosis (GDGDB) [FUCA1]
        Alpha-mannosidosis (GDGDB) [MAN2B1]
        Beta-mannosidosis (GDGDB) [MANBA]
        Sialidosis (GDGDB) [NEU1]
        Schindler disease
        Galactosialidosis (GDGDB) [CTSA]
        Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
        Mucolipidosis III (alpha/beta) (GDGDB) [GNPTAB]
        Hurler syndrome (GDGDB) [IDUA]
        Hurler-Scheie syndrome (GDGDB) [IDUA]
        Scheie syndrome (GDGDB) [IDUA]
        Mucopolysaccharidosis II (GDGDB) [IDS]
        Sanfilippo syndrome A (GDGDB) [SGSH]
        Sanfilippo syndrome B (GDGDB) [NAGLU]
        Sanfilippo syndrome C (GDGDB) [HGSNAT]
        Sanfilippo syndrome D (GDGDB) [GNS]
        Morquio syndrome A (GDGDB) [GALNS]
        Morquio syndrome B (GDGDB) [GLB1]
        Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
        Mucopolysaccharidosis VII (GDGDB) [GUSB]
        GM1-gangliosidosis, type I (GDGDB) [GLB1]
        GM1-gangliosidosis, type II (GDGDB) [GLB1]
        GM1-gangliosidosis, type III (GDGDB) [GLB1]
        Sandhoff disease (GDGDB) [HEXB]
        
        Bone Diseases, Metabolic
        Mucolipidoses
        Sialidosis (GDGDB) [NEU1]
        Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
        Mucolipidosis III (alpha/beta) (GDGDB) [GNPTAB]
        
        Osteoporosis
        Aspartylglucosaminuria (GDGDB) [AGA]
        Alpha-mannosidosis (GDGDB) [MAN2B1]
        Mucolipidosis III (alpha/beta) (GDGDB) [GNPTAB]
        Gaucher disease, type I (GDGDB) [GBA]
        Gaucher disease, type III (GDGDB) [GBA]
        Gaucher disease, type IIIC (GDGDB) [GBA]
        
        Spinal Diseases
        Spinal Curvatures
        Kyphosis
        Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
        Multiple sulfatase deficiency (GDGDB) [SUMF1]
        
        Spinal Stenosis
        Hurler syndrome (GDGDB) [IDUA]
        Hurler-Scheie syndrome (GDGDB) [IDUA]
        Scheie syndrome (GDGDB) [IDUA]
        Mucopolysaccharidosis II (GDGDB) [IDS]
        Morquio syndrome A (GDGDB) [GALNS]
        Morquio syndrome B (GDGDB) [GLB1]
        Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
        Mucopolysaccharidosis VII (GDGDB) [GUSB]
        
        Aspartylglucosaminuria (GDGDB) [AGA]
        Alpha-mannosidosis (GDGDB) [MAN2B1]
        Galactosialidosis (GDGDB) [CTSA]
        GM1-gangliosidosis, type I (GDGDB) [GLB1]
        GM1-gangliosidosis, type II (GDGDB) [GLB1]
        GM1-gangliosidosis, type III (GDGDB) [GLB1]
        
        Joint Diseases
        Arthritis
        Gaucher disease, type I (GDGDB) [GBA]
        Gaucher disease, type III (GDGDB) [GBA]
        Gaucher disease, type IIIC (GDGDB) [GBA]
        Farber Lipogranulomatosis (GDGDB) [ASAH1]
        
        Contracture
        Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
        Hurler syndrome (GDGDB) [IDUA]
        Hurler-Scheie syndrome (GDGDB) [IDUA]
        Scheie syndrome (GDGDB) [IDUA]
        Mucopolysaccharidosis II (GDGDB) [IDS]
        Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
        Mucopolysaccharidosis VII (GDGDB) [GUSB]
        Farber Lipogranulomatosis (GDGDB) [ASAH1]
        
        Aspartylglucosaminuria (GDGDB) [AGA]
        Alpha-mannosidosis (GDGDB) [MAN2B1]
        Mucolipidosis III (alpha/beta) (GDGDB) [GNPTAB]
        Sanfilippo syndrome A (GDGDB) [SGSH]
        Sanfilippo syndrome B (GDGDB) [NAGLU]
        Sanfilippo syndrome C (GDGDB) [HGSNAT]
        Sanfilippo syndrome D (GDGDB) [GNS]
        Morquio syndrome A (GDGDB) [GALNS]
        Morquio syndrome B (GDGDB) [GLB1]
        
        Musculoskeletal Abnormalities
        Craniofacial Abnormalities
        Macrocephaly
        Hurler syndrome (GDGDB) [IDUA]
        Hurler-Scheie syndrome (GDGDB) [IDUA]
        Scheie syndrome (GDGDB) [IDUA]
        Mucopolysaccharidosis II (GDGDB) [IDS]
        Sanfilippo syndrome A (GDGDB) [SGSH]
        Sanfilippo syndrome B (GDGDB) [NAGLU]
        Sanfilippo syndrome C (GDGDB) [HGSNAT]
        Sanfilippo syndrome D (GDGDB) [GNS]
        Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
        Mucopolysaccharidosis VII (GDGDB) [GUSB]
        
        Maxillofacial Abnormalities
        Aspartylglucosaminuria (GDGDB) [AGA]
        Fucosidosis (GDGDB) [FUCA1]
        Alpha-mannosidosis (GDGDB) [MAN2B1]
        Beta-mannosidosis (GDGDB) [MANBA]
        Sialidosis (GDGDB) [NEU1]
        Galactosialidosis (GDGDB) [CTSA]
        Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
        Mucolipidosis III (alpha/beta) (GDGDB) [GNPTAB]
        Hurler syndrome (GDGDB) [IDUA]
        Hurler-Scheie syndrome (GDGDB) [IDUA]
        Scheie syndrome (GDGDB) [IDUA]
        Sanfilippo syndrome A (GDGDB) [SGSH]
        Sanfilippo syndrome B (GDGDB) [NAGLU]
        Sanfilippo syndrome C (GDGDB) [HGSNAT]
        Sanfilippo syndrome D (GDGDB) [GNS]
        Morquio syndrome A (GDGDB) [GALNS]
        Morquio syndrome B (GDGDB) [GLB1]
        Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
        Mucopolysaccharidosis VII (GDGDB) [GUSB]
        GM1-gangliosidosis, type I (GDGDB) [GLB1]
        GM1-gangliosidosis, type II (GDGDB) [GLB1]
        GM1-gangliosidosis, type III (GDGDB) [GLB1]
        Gaucher disease, type II (GDGDB) [GBA]
        Gaucher disease, type II, perinatal lethal form [GBA]
        
        Multiple sulfatase deficiency (GDGDB) [SUMF1]
        
        Microcephaly
        Aspartylglucosaminuria (GDGDB) [AGA]
        
        Hip Dislocation, Congenital
        Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
        
        Limb Deformities, Congenital
        Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
        
        Alpha-mannosidosis (GDGDB) [MAN2B1]
        Morquio syndrome A (GDGDB) [GALNS]
        Morquio syndrome B (GDGDB) [GLB1]
        GM1-gangliosidosis, type I (GDGDB) [GLB1]
        GM1-gangliosidosis, type II (GDGDB) [GLB1]
        GM1-gangliosidosis, type III (GDGDB) [GLB1]
        Sandhoff disease (GDGDB) [HEXB]
        Gaucher disease, type I (GDGDB) [GBA]
        Gaucher disease, type III (GDGDB) [GBA]
        Gaucher disease, type IIIC (GDGDB) [GBA]
        Multiple sulfatase deficiency (GDGDB) [SUMF1]
        
        Muscular Diseases
        Muscle Rigidity
        Krabbe disease (GDGDB) [GALC]
        Krabbe disease, infantile form [GALC]
        Krabbe disease, late-onset form [GALC]
        
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
        
        Muscle Spasticity
        Fucosidosis (GDGDB) [FUCA1]
        Tay-Sachs disease (GDGDB) [HEXA]
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
        Niemann-Pick disease, type A (GDGDB) [SMPD1]
        
        Muscle Weakness
        Alpha-mannosidosis (GDGDB) [MAN2B1]
        GM1-gangliosidosis, type I (GDGDB) [GLB1]
        GM1-gangliosidosis, type II (GDGDB) [GLB1]
        GM1-gangliosidosis, type III (GDGDB) [GLB1]
        Tay-Sachs disease (GDGDB) [HEXA]
        Sandhoff disease (GDGDB) [HEXB]
        GM2-gangliosidosis, AB variant (GDGDB) [GM2A]
        Krabbe disease (GDGDB) [GALC]
        Krabbe disease, infantile form [GALC]
        Krabbe disease, late-onset form [GALC]
        
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
        Pompe disease (GDGDB) [GAA]
        
        Neoplasms
        Neoplasms by Histologic Type
        Neoplasms, Vascular Tissue
        Angiokeratoma
        Fucosidosis (GDGDB) [FUCA1]
        Beta-mannosidosis (GDGDB) [MANBA]
        Sialidosis (GDGDB) [NEU1]
        Schindler disease, type II (GDGDB) [NAGA]
        Galactosialidosis (GDGDB) [CTSA]
        Fabry disease (GDGDB) [GLA]
        
        Nervous System Diseases
        Central Nervous System Diseases
        Brain Diseases
        Brain Diseases, Metabolic
        Brain Diseases, Metabolic, Inborn
        Aspartylglucosaminuria (GDGDB) [AGA]
        Fucosidosis (GDGDB) [FUCA1]
        Sialidosis (GDGDB) [NEU1]
        Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
        Mucolipidosis III (alpha/beta) (GDGDB) [GNPTAB]
        GM1-gangliosidosis, type I (GDGDB) [GLB1]
        GM1-gangliosidosis, type II (GDGDB) [GLB1]
        GM1-gangliosidosis, type III (GDGDB) [GLB1]
        Tay-Sachs disease (GDGDB) [HEXA]
        Sandhoff disease (GDGDB) [HEXB]
        GM2-gangliosidosis, AB variant (GDGDB) [GM2A]
        Fabry disease (GDGDB) [GLA]
        Gaucher disease, type II (GDGDB) [GBA]
        Gaucher disease, type III (GDGDB) [GBA]
        Gaucher disease, atypical, due to saposin C deficiency (GDGDB) [PSAP]
        Krabbe disease (GDGDB) [GALC]
        Multiple sulfatase deficiency (GDGDB) [SUMF1]
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
        Niemann-Pick disease, type A (GDGDB) [SMPD1]
        Niemann-Pick disease, type C1 (GDGDB) [NPC1]
        Niemann-Pick disease, type C2 (GDGDB) [NPC2]
        Farber Lipogranulomatosis (GDGDB) [ASAH1]
        
        Dementia
        Gaucher disease, type II (GDGDB) [GBA]
        Gaucher disease, type III (GDGDB) [GBA]
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
        Niemann-Pick disease, type C1 (GDGDB) [NPC1]
        Niemann-Pick disease, type C2 (GDGDB) [NPC2]
        
        Intracranial Hypertension
        Hydrocephalus
        Alpha-mannosidosis (GDGDB) [MAN2B1]
        Hurler syndrome (GDGDB) [IDUA]
        Hurler-Scheie syndrome (GDGDB) [IDUA]
        Scheie syndrome (GDGDB) [IDUA]
        Mucopolysaccharidosis II (GDGDB) [IDS]
        Sanfilippo syndrome A (GDGDB) [SGSH]
        Sanfilippo syndrome B (GDGDB) [NAGLU]
        Sanfilippo syndrome C (GDGDB) [HGSNAT]
        Sanfilippo syndrome D (GDGDB) [GNS]
        Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
        Mucopolysaccharidosis VII (GDGDB) [GUSB]
        
        Cerebrovascular Disorders
        Stroke
        Fabry disease (GDGDB) [GLA]
        
        Movement Disorders
        Dyskinesias
        Aspartylglucosaminuria (GDGDB) [AGA]
        Fucosidosis (GDGDB) [FUCA1]
        Sialidosis (GDGDB) [NEU1]
        Sanfilippo syndrome A (GDGDB) [SGSH]
        Sanfilippo syndrome B (GDGDB) [NAGLU]
        Sanfilippo syndrome C (GDGDB) [HGSNAT]
        Sanfilippo syndrome D (GDGDB) [GNS]
        Tay-Sachs disease (GDGDB) [HEXA]
        Sandhoff disease (GDGDB) [HEXB]
        Gaucher disease, type II (GDGDB) [GBA]
        Krabbe disease (GDGDB) [GALC]
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
        Niemann-Pick disease, type A (GDGDB) [SMPD1]
        Niemann-Pick disease, type C1 (GDGDB) [NPC1]
        Niemann-Pick disease, type C2 (GDGDB) [NPC2]
        Combined saposin deficiency (GDGDB) [PSAP]
        
        Spinal Cord Diseases
        Spinal Cord Compression
        Hurler syndrome (GDGDB) [IDUA]
        Hurler-Scheie syndrome (GDGDB) [IDUA]
        Scheie syndrome (GDGDB) [IDUA]
        Mucopolysaccharidosis II (GDGDB) [IDS]
        Morquio syndrome A (GDGDB) [GALNS]
        Morquio syndrome B (GDGDB) [GLB1]
        Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
        Mucopolysaccharidosis VII (GDGDB) [GUSB]
        
        Ocular Motility Disorders
        Gaucher disease, type II (GDGDB) [GBA]
        Gaucher disease, type III (GDGDB) [GBA]
        Gaucher disease, type IIIC (GDGDB) [GBA]
        Niemann-Pick disease, type C1 (GDGDB) [NPC1]
        Niemann-Pick disease, type C2 (GDGDB) [NPC2]
        Combined saposin deficiency (GDGDB) [PSAP]
        
        Demyelinating Diseases
        Hereditary Central Nervous System Demyelinating Diseases
        Fucosidosis (GDGDB) [FUCA1]
        Hurler-Scheie syndrome (GDGDB) [IDUA]
        Mucopolysaccharidosis II (GDGDB) [IDS]
        Sanfilippo syndrome A (GDGDB) [SGSH]
        Sanfilippo syndrome B (GDGDB) [NAGLU]
        Sanfilippo syndrome C (GDGDB) [HGSNAT]
        Sanfilippo syndrome D (GDGDB) [GNS]
        Morquio syndrome A (GDGDB) [GALNS]
        Morquio syndrome B (GDGDB) [GLB1]
        Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
        GM1-gangliosidosis, type I (GDGDB) [GLB1]
        GM1-gangliosidosis, type II (GDGDB) [GLB1]
        GM1-gangliosidosis, type III (GDGDB) [GLB1]
        Tay-Sachs disease (GDGDB) [HEXA]
        Tay-Sachs disease, infantile form [HEXA]
        
        Sandhoff disease (GDGDB) [HEXB]
        Sandhoff disease, infantile form [HEXB]
        
        Krabbe disease (GDGDB) [GALC]
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
        Combined saposin deficiency (GDGDB) [PSAP]
        
        Nervous System Malformations
        Malformations of Cortical Development
        Combined saposin deficiency (GDGDB) [PSAP]
        Macrocephaly
        Hurler syndrome (GDGDB) [IDUA]
        Hurler-Scheie syndrome (GDGDB) [IDUA]
        Scheie syndrome (GDGDB) [IDUA]
        Mucopolysaccharidosis II (GDGDB) [IDS]
        Sanfilippo syndrome A (GDGDB) [SGSH]
        Sanfilippo syndrome B (GDGDB) [NAGLU]
        Sanfilippo syndrome C (GDGDB) [HGSNAT]
        Sanfilippo syndrome D (GDGDB) [GNS]
        Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
        Mucopolysaccharidosis VII (GDGDB) [GUSB]
        
        Microcephaly
        Aspartylglucosaminuria (GDGDB) [AGA]
        
        Neurodegenerative Diseases
        Heredodegenerative Disorders, Nervous System
        Schindler disease, type I (GDGDB) [NAGA]
        Schindler disease, type II (GDGDB) [NAGA]
        Combined saposin deficiency (GDGDB) [PSAP]
        
        Neuromuscular Diseases
        Peripheral Nervous System Diseases
        Mononeuropathies
        Median Neuropathy
        Carpal Tunnel Syndrome
        Hurler syndrome (GDGDB) [IDUA]
        Hurler-Scheie syndrome (GDGDB) [IDUA]
        Scheie syndrome (GDGDB) [IDUA]
        Mucopolysaccharidosis II (GDGDB) [IDS]
        Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
        Mucopolysaccharidosis VII (GDGDB) [GUSB]
        
        Nerve Compression Syndromes
        Carpal Tunnel Syndrome
        Hurler syndrome (GDGDB) [IDUA]
        Hurler-Scheie syndrome (GDGDB) [IDUA]
        Scheie syndrome (GDGDB) [IDUA]
        Mucopolysaccharidosis II (GDGDB) [IDS]
        Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
        Mucopolysaccharidosis VII (GDGDB) [GUSB]
        
        Beta-mannosidosis (GDGDB) [MANBA]
        Tay-Sachs disease (GDGDB) [HEXA]
        Fabry disease (GDGDB) [GLA]
        Krabbe disease (GDGDB) [GALC]
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
        
        Cranial Nerve Diseases
        Neurologic Manifestations
        Dyskinesias
        Ataxia
        Aspartylglucosaminuria (GDGDB) [AGA]
        Alpha-mannosidosis (GDGDB) [MAN2B1]
        Sialidosis (GDGDB) [NEU1]
        Galactosialidosis (GDGDB) [CTSA]
        Tay-Sachs disease (GDGDB) [HEXA]
        Sandhoff disease (GDGDB) [HEXB]
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
        Niemann-Pick disease, type A (GDGDB) [SMPD1]
        Niemann-Pick disease, type C1 (GDGDB) [NPC1]
        Niemann-Pick disease, type C2 (GDGDB) [NPC2]
        
        Dystonia
        GM1-gangliosidosis, type I (GDGDB) [GLB1]
        GM1-gangliosidosis, type II (GDGDB) [GLB1]
        GM1-gangliosidosis, type III (GDGDB) [GLB1]
        Niemann-Pick disease, type A (GDGDB) [SMPD1]
        Niemann-Pick disease, type C1 (GDGDB) [NPC1]
        Niemann-Pick disease, type C2 (GDGDB) [NPC2]
        
        Myoclonus
        Sialidosis (GDGDB) [NEU1]
        Galactosialidosis (GDGDB) [CTSA]
        Farber Lipogranulomatosis (GDGDB) [ASAH1]
        Farber Lipogranulomatosis, type 5 [ASAH1]
        
        Combined saposin deficiency (GDGDB) [PSAP]
        
        Tremor
        Sialidosis (GDGDB) [NEU1]
        Niemann-Pick disease, type C1 (GDGDB) [NPC1]
        Niemann-Pick disease, type C2 (GDGDB) [NPC2]
        
        Hyperkinesis
        Combined saposin deficiency (GDGDB) [PSAP]
        
        Gait Disorders, Neurologic
        Sialidosis (GDGDB) [NEU1]
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
        
        Neurobehavioral Manifestations
        Communication Disorders
        Language Disorders
        Speech Disorders
        Aspartylglucosaminuria (GDGDB) [AGA]
        Alpha-mannosidosis (GDGDB) [MAN2B1]
        Beta-mannosidosis (GDGDB) [MANBA]
        Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
        Sanfilippo syndrome A (GDGDB) [SGSH]
        Sanfilippo syndrome B (GDGDB) [NAGLU]
        Sanfilippo syndrome C (GDGDB) [HGSNAT]
        Sanfilippo syndrome D (GDGDB) [GNS]
        Tay-Sachs disease (GDGDB) [HEXA]
        Sandhoff disease (GDGDB) [HEXB]
        Multiple sulfatase deficiency (GDGDB) [SUMF1]
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
        Niemann-Pick disease, type C1 (GDGDB) [NPC1]
        Niemann-Pick disease, type C2 (GDGDB) [NPC2]
        Farber Lipogranulomatosis (GDGDB) [ASAH1]
        Farber Lipogranulomatosis, type 5 [ASAH1]
        
        Learning Disorders
        Aspartylglucosaminuria (GDGDB) [AGA]
        Alpha-mannosidosis (GDGDB) [MAN2B1]
        Schindler disease, type I (GDGDB) [NAGA]
        Mucolipidosis III (alpha/beta) (GDGDB) [GNPTAB]
        Hurler syndrome (GDGDB) [IDUA]
        Hurler-Scheie syndrome (GDGDB) [IDUA]
        Sanfilippo syndrome A (GDGDB) [SGSH]
        Sanfilippo syndrome B (GDGDB) [NAGLU]
        Sanfilippo syndrome C (GDGDB) [HGSNAT]
        Sanfilippo syndrome D (GDGDB) [GNS]
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
        Niemann-Pick disease, type A (GDGDB) [SMPD1]
        Niemann-Pick disease, type C1 (GDGDB) [NPC1]
        Niemann-Pick disease, type C2 (GDGDB) [NPC2]
        
        Intellectual Disability
        Aspartylglucosaminuria (GDGDB) [AGA]
        Fucosidosis (GDGDB) [FUCA1]
        Alpha-mannosidosis (GDGDB) [MAN2B1]
        Beta-mannosidosis (GDGDB) [MANBA]
        Sialidosis (GDGDB) [NEU1]
        Sialidosis type II [NEU1]
        
        Schindler disease, type I (GDGDB) [NAGA]
        Schindler disease, type II (GDGDB) [NAGA]
        Galactosialidosis (GDGDB) [CTSA]
        Mucolipidosis III (alpha/beta) (GDGDB) [GNPTAB]
        Hurler syndrome (GDGDB) [IDUA]
        Hurler-Scheie syndrome (GDGDB) [IDUA]
        Sanfilippo syndrome A (GDGDB) [SGSH]
        Sanfilippo syndrome B (GDGDB) [NAGLU]
        Sanfilippo syndrome C (GDGDB) [HGSNAT]
        Sanfilippo syndrome D (GDGDB) [GNS]
        Mucopolysaccharidosis VII (GDGDB) [GUSB]
        GM1-gangliosidosis, type I (GDGDB) [GLB1]
        GM1-gangliosidosis, type II (GDGDB) [GLB1]
        GM1-gangliosidosis, type III (GDGDB) [GLB1]
        Tay-Sachs disease (GDGDB) [HEXA]
        Sandhoff disease (GDGDB) [HEXB]
        Fabry disease (GDGDB) [GLA]
        Gaucher disease, type II (GDGDB) [GBA]
        Gaucher disease, type III (GDGDB) [GBA]
        Gaucher disease, atypical, due to saposin C deficiency (GDGDB) [PSAP]
        Krabbe disease (GDGDB) [GALC]
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
        Niemann-Pick disease, type A (GDGDB) [SMPD1]
        Niemann-Pick disease, type C1 (GDGDB) [NPC1]
        Niemann-Pick disease, type C2 (GDGDB) [NPC2]
        Farber Lipogranulomatosis (GDGDB) [ASAH1]
        Mental Retardation, X-Linked
        Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
        
        Perceptual Disorders
        Hallucinations
        Alpha-mannosidosis (GDGDB) [MAN2B1]
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, adult form [ARSA]
        
        Neuromuscular Manifestations
        Fasciculation
        Gaucher disease, type II (GDGDB) [GBA]
        Combined saposin deficiency (GDGDB) [PSAP]
        
        Muscle Hypertonia
        Muscle Rigidity
        Krabbe disease (GDGDB) [GALC]
        Krabbe disease, infantile form [GALC]
        Krabbe disease, late-onset form [GALC]
        
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
        
        Muscle Spasticity
        Fucosidosis (GDGDB) [FUCA1]
        Tay-Sachs disease (GDGDB) [HEXA]
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
        Niemann-Pick disease, type A (GDGDB) [SMPD1]
        
        Muscle Hypotonia
        Beta-mannosidosis (GDGDB) [MANBA]
        Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
        Combined saposin deficiency (GDGDB) [PSAP]
        Wolman disease (GDGDB) [LIPA]
        Pompe disease (GDGDB) [GAA]
        
        Muscle Weakness
        Alpha-mannosidosis (GDGDB) [MAN2B1]
        GM1-gangliosidosis, type I (GDGDB) [GLB1]
        GM1-gangliosidosis, type II (GDGDB) [GLB1]
        GM1-gangliosidosis, type III (GDGDB) [GLB1]
        Tay-Sachs disease (GDGDB) [HEXA]
        Sandhoff disease (GDGDB) [HEXB]
        GM2-gangliosidosis, AB variant (GDGDB) [GM2A]
        Krabbe disease (GDGDB) [GALC]
        Krabbe disease, infantile form [GALC]
        Krabbe disease, late-onset form [GALC]
        
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
        Pompe disease (GDGDB) [GAA]
        
        Muscular Atrophy
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
        
        Pain
        Musculoskeletal Pain
        Mucolipidosis III (alpha/beta) (GDGDB) [GNPTAB]
        Hurler syndrome (GDGDB) [IDUA]
        Hurler-Scheie syndrome (GDGDB) [IDUA]
        Scheie syndrome (GDGDB) [IDUA]
        Fabry disease (GDGDB) [GLA]
        Gaucher disease, type I (GDGDB) [GBA]
        Gaucher disease, type III (GDGDB) [GBA]
        Gaucher disease, type IIIC (GDGDB) [GBA]
        Farber Lipogranulomatosis (GDGDB) [ASAH1]
        
        Paralysis
        Morquio syndrome A (GDGDB) [GALNS]
        Morquio syndrome B (GDGDB) [GLB1]
        Tay-Sachs disease (GDGDB) [HEXA]
        Sandhoff disease (GDGDB) [HEXB]
        GM2-gangliosidosis, AB variant (GDGDB) [GM2A]
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
        Farber Lipogranulomatosis (GDGDB) [ASAH1]
        Farber Lipogranulomatosis, type 5 [ASAH1]
        
        Facial Paralysis
        Niemann-Pick disease, type C1 (GDGDB) [NPC1]
        Niemann-Pick disease, type C2 (GDGDB) [NPC2]
        
        Paresis
        Paraparesis
        Paraparesis, Spastic
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
        Niemann-Pick disease, type A (GDGDB) [SMPD1]
        
        Seizures
        Aspartylglucosaminuria (GDGDB) [AGA]
        Fucosidosis (GDGDB) [FUCA1]
        Beta-mannosidosis (GDGDB) [MANBA]
        Sialidosis (GDGDB) [NEU1]
        Schindler disease, type I (GDGDB) [NAGA]
        Galactosialidosis (GDGDB) [CTSA]
        Sanfilippo syndrome A (GDGDB) [SGSH]
        Sanfilippo syndrome B (GDGDB) [NAGLU]
        Sanfilippo syndrome C (GDGDB) [HGSNAT]
        Sanfilippo syndrome D (GDGDB) [GNS]
        GM1-gangliosidosis, type I (GDGDB) [GLB1]
        GM1-gangliosidosis, type II (GDGDB) [GLB1]
        GM1-gangliosidosis, type III (GDGDB) [GLB1]
        Tay-Sachs disease (GDGDB) [HEXA]
        Sandhoff disease (GDGDB) [HEXB]
        GM2-gangliosidosis, AB variant (GDGDB) [GM2A]
        Gaucher disease, type II (GDGDB) [GBA]
        Gaucher disease, type III (GDGDB) [GBA]
        Krabbe disease (GDGDB) [GALC]
        Krabbe disease, infantile form [GALC]
        Krabbe disease, late-onset form [GALC]
        
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
        Niemann-Pick disease, type A (GDGDB) [SMPD1]
        Niemann-Pick disease, type C1 (GDGDB) [NPC1]
        Niemann-Pick disease, type C2 (GDGDB) [NPC2]
        Farber Lipogranulomatosis (GDGDB) [ASAH1]
        Farber Lipogranulomatosis, type 5 [ASAH1]
        
        Combined saposin deficiency (GDGDB) [PSAP]
        
        Sensation Disorders
        Hearing Disorders
        Hearing Loss
        Alpha-mannosidosis (GDGDB) [MAN2B1]
        Beta-mannosidosis (GDGDB) [MANBA]
        Sialidosis (GDGDB) [NEU1]
        Schindler disease, type II (GDGDB) [NAGA]
        Galactosialidosis (GDGDB) [CTSA]
        Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
        Hurler syndrome (GDGDB) [IDUA]
        Hurler-Scheie syndrome (GDGDB) [IDUA]
        Scheie syndrome (GDGDB) [IDUA]
        Mucopolysaccharidosis II (GDGDB) [IDS]
        Sanfilippo syndrome A (GDGDB) [SGSH]
        Sanfilippo syndrome B (GDGDB) [NAGLU]
        Sanfilippo syndrome C (GDGDB) [HGSNAT]
        Sanfilippo syndrome D (GDGDB) [GNS]
        Morquio syndrome A (GDGDB) [GALNS]
        Morquio syndrome B (GDGDB) [GLB1]
        Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
        Mucopolysaccharidosis VII (GDGDB) [GUSB]
        Tay-Sachs disease (GDGDB) [HEXA]
        Sandhoff disease (GDGDB) [HEXB]
        GM2-gangliosidosis, AB variant (GDGDB) [GM2A]
        Fabry disease (GDGDB) [GLA]
        Krabbe disease (GDGDB) [GALC]
        Krabbe disease, infantile form [GALC]
        Krabbe disease, late-onset form [GALC]
        
        Multiple sulfatase deficiency (GDGDB) [SUMF1]
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
        
        Tinnitus
        Fabry disease (GDGDB) [GLA]
        
        Somatosensory Disorders
        Hypesthesia
        Beta-mannosidosis (GDGDB) [MANBA]
        Schindler disease, type II (GDGDB) [NAGA]
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
        
        Paresthesia
        Fabry disease (GDGDB) [GLA]
        
        Vision Disorders
        Blindness
        Schindler disease, type I (GDGDB) [NAGA]
        Galactosialidosis (GDGDB) [CTSA]
        Hurler syndrome (GDGDB) [IDUA]
        Hurler-Scheie syndrome (GDGDB) [IDUA]
        Scheie syndrome (GDGDB) [IDUA]
        Morquio syndrome A (GDGDB) [GALNS]
        Morquio syndrome B (GDGDB) [GLB1]
        Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
        Mucopolysaccharidosis VII (GDGDB) [GUSB]
        GM1-gangliosidosis, type I (GDGDB) [GLB1]
        GM1-gangliosidosis, type II (GDGDB) [GLB1]
        GM1-gangliosidosis, type III (GDGDB) [GLB1]
        Tay-Sachs disease (GDGDB) [HEXA]
        Sandhoff disease (GDGDB) [HEXB]
        GM2-gangliosidosis, AB variant (GDGDB) [GM2A]
        Krabbe disease (GDGDB) [GALC]
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
        
        Vision, Low
        Sialidosis (GDGDB) [NEU1]
        Mucopolysaccharidosis II (GDGDB) [IDS]
        Sanfilippo syndrome A (GDGDB) [SGSH]
        Sanfilippo syndrome B (GDGDB) [NAGLU]
        Sanfilippo syndrome C (GDGDB) [HGSNAT]
        Sanfilippo syndrome D (GDGDB) [GNS]
        Gaucher disease, type IIIC (GDGDB) [GBA]
        
        Sleep Disorders
        Sanfilippo syndrome A (GDGDB) [SGSH]
        Sanfilippo syndrome B (GDGDB) [NAGLU]
        Sanfilippo syndrome C (GDGDB) [HGSNAT]
        Sanfilippo syndrome D (GDGDB) [GNS]
        Niemann-Pick disease, type A (GDGDB) [SMPD1]
        
        Otorhinolaryngologic Diseases
        Ear Diseases
        Labyrinth Diseases
        Schindler disease, type II (GDGDB) [NAGA]
        
        Otitis
        Alpha-mannosidosis (GDGDB) [MAN2B1]
        Beta-mannosidosis (GDGDB) [MANBA]
        Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
        Mucolipidosis III (alpha/beta) (GDGDB) [GNPTAB]
        Hurler syndrome (GDGDB) [IDUA]
        Hurler-Scheie syndrome (GDGDB) [IDUA]
        Scheie syndrome (GDGDB) [IDUA]
        Mucopolysaccharidosis II (GDGDB) [IDS]
        Sanfilippo syndrome A (GDGDB) [SGSH]
        Sanfilippo syndrome B (GDGDB) [NAGLU]
        Sanfilippo syndrome C (GDGDB) [HGSNAT]
        Sanfilippo syndrome D (GDGDB) [GNS]
        Morquio syndrome A (GDGDB) [GALNS]
        Morquio syndrome B (GDGDB) [GLB1]
        Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
        Mucopolysaccharidosis VII (GDGDB) [GUSB]
        
        Hearing Disorders
        Hearing Loss
        Alpha-mannosidosis (GDGDB) [MAN2B1]
        Beta-mannosidosis (GDGDB) [MANBA]
        Sialidosis (GDGDB) [NEU1]
        Schindler disease, type II (GDGDB) [NAGA]
        Galactosialidosis (GDGDB) [CTSA]
        Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
        Hurler syndrome (GDGDB) [IDUA]
        Hurler-Scheie syndrome (GDGDB) [IDUA]
        Scheie syndrome (GDGDB) [IDUA]
        Mucopolysaccharidosis II (GDGDB) [IDS]
        Sanfilippo syndrome A (GDGDB) [SGSH]
        Sanfilippo syndrome B (GDGDB) [NAGLU]
        Sanfilippo syndrome C (GDGDB) [HGSNAT]
        Sanfilippo syndrome D (GDGDB) [GNS]
        Morquio syndrome A (GDGDB) [GALNS]
        Morquio syndrome B (GDGDB) [GLB1]
        Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
        Mucopolysaccharidosis VII (GDGDB) [GUSB]
        Tay-Sachs disease (GDGDB) [HEXA]
        Sandhoff disease (GDGDB) [HEXB]
        GM2-gangliosidosis, AB variant (GDGDB) [GM2A]
        Fabry disease (GDGDB) [GLA]
        Krabbe disease (GDGDB) [GALC]
        Krabbe disease, infantile form [GALC]
        
        Multiple sulfatase deficiency (GDGDB) [SUMF1]
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
        
        Tinnitus
        
        Pharyngeal Diseases
        Deglutition Disorders
        Beta-mannosidosis (GDGDB) [MANBA]
        Gaucher disease, type II (GDGDB) [GBA]
        Krabbe disease (GDGDB) [GALC]
        Niemann-Pick disease, type C1 (GDGDB) [NPC1]
        Niemann-Pick disease, type C2 (GDGDB) [NPC2]
        
        Pathological Conditions, Signs and Symptoms
        Pathologic Processes
        Growth Disorders
        Niemann-Pick disease, type A (GDGDB) [SMPD1]
        Niemann-Pick disease, type B (GDGDB) [SMPD1]
        Wolman disease (GDGDB) [LIPA]
        Pompe disease (GDGDB) [GAA]
        Pompe disease, infantile-onset form [GAA]
        
        Hyperbilirubinemia
        Jaundice
        Niemann-Pick disease, type A (GDGDB) [SMPD1]
        Niemann-Pick disease, type C1 (GDGDB) [NPC1]
        Niemann-Pick disease, type C2 (GDGDB) [NPC2]
        Wolman disease (GDGDB) [LIPA]
        
        Pathological Conditions, Anatomical
        Hernia
        Hernia, Abdominal
        Hernia, Inguinal
        Galactosialidosis (GDGDB) [CTSA]
        Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
        Hurler syndrome (GDGDB) [IDUA]
        Hurler-Scheie syndrome (GDGDB) [IDUA]
        Scheie syndrome (GDGDB) [IDUA]
        Mucopolysaccharidosis II (GDGDB) [IDS]
        Sanfilippo syndrome A (GDGDB) [SGSH]
        Sanfilippo syndrome B (GDGDB) [NAGLU]
        Sanfilippo syndrome C (GDGDB) [HGSNAT]
        Sanfilippo syndrome D (GDGDB) [GNS]
        Morquio syndrome A (GDGDB) [GALNS]
        Morquio syndrome B (GDGDB) [GLB1]
        Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
        Mucopolysaccharidosis VII (GDGDB) [GUSB]
        
        Hernia, Ventral
        Hernia, Umbilical
        Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
        Hurler syndrome (GDGDB) [IDUA]
        Hurler-Scheie syndrome (GDGDB) [IDUA]
        Scheie syndrome (GDGDB) [IDUA]
        Mucopolysaccharidosis II (GDGDB) [IDS]
        Sanfilippo syndrome A (GDGDB) [SGSH]
        Sanfilippo syndrome B (GDGDB) [NAGLU]
        Sanfilippo syndrome C (GDGDB) [HGSNAT]
        Sanfilippo syndrome D (GDGDB) [GNS]
        Morquio syndrome A (GDGDB) [GALNS]
        Morquio syndrome B (GDGDB) [GLB1]
        Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
        Mucopolysaccharidosis VII (GDGDB) [GUSB]
        
        Signs and Symptoms
        Body Temperature Changes
        Fever
        Krabbe disease (GDGDB) [GALC]
        Krabbe disease, infantile form [GALC]
        
        Edema
        Hydrops Fetalis
        Sialidosis (GDGDB) [NEU1]
        Galactosialidosis (GDGDB) [CTSA]
        Mucopolysaccharidosis VII (GDGDB) [GUSB]
        Gaucher disease, type II (GDGDB) [GBA]
        Gaucher disease, type II, perinatal lethal form [GBA]
        
        Mobility Limitation
        Aspartylglucosaminuria (GDGDB) [AGA]
        Fucosidosis (GDGDB) [FUCA1]
        Alpha-mannosidosis (GDGDB) [MAN2B1]
        Sialidosis (GDGDB) [NEU1]
        Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
        Mucolipidosis III (alpha/beta) (GDGDB) [GNPTAB]
        Hurler syndrome (GDGDB) [IDUA]
        Hurler-Scheie syndrome (GDGDB) [IDUA]
        Scheie syndrome (GDGDB) [IDUA]
        Mucopolysaccharidosis II (GDGDB) [IDS]
        Sanfilippo syndrome A (GDGDB) [SGSH]
        Sanfilippo syndrome B (GDGDB) [NAGLU]
        Sanfilippo syndrome C (GDGDB) [HGSNAT]
        Sanfilippo syndrome D (GDGDB) [GNS]
        Morquio syndrome A (GDGDB) [GALNS]
        Morquio syndrome B (GDGDB) [GLB1]
        Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
        Mucopolysaccharidosis VII (GDGDB) [GUSB]
        Tay-Sachs disease (GDGDB) [HEXA]
        Sandhoff disease (GDGDB) [HEXB]
        GM2-gangliosidosis, AB variant (GDGDB) [GM2A]
        Krabbe disease (GDGDB) [GALC]
        Multiple sulfatase deficiency (GDGDB) [SUMF1]
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
        Niemann-Pick disease, type A (GDGDB) [SMPD1]
        Niemann-Pick disease, type C1 (GDGDB) [NPC1]
        Niemann-Pick disease, type C2 (GDGDB) [NPC2]
        Farber Lipogranulomatosis (GDGDB) [ASAH1]
        Farber Lipogranulomatosis, type 5 [ASAH1]
        
        Pompe disease (GDGDB) [GAA]
        
        Signs and Symptoms, Digestive
        Constipation
        Hurler syndrome (GDGDB) [IDUA]
        Hurler-Scheie syndrome (GDGDB) [IDUA]
        Scheie syndrome (GDGDB) [IDUA]
        
        Diarrhea
        Aspartylglucosaminuria (GDGDB) [AGA]
        Hurler syndrome (GDGDB) [IDUA]
        Hurler-Scheie syndrome (GDGDB) [IDUA]
        Scheie syndrome (GDGDB) [IDUA]
        Sanfilippo syndrome A (GDGDB) [SGSH]
        Sanfilippo syndrome B (GDGDB) [NAGLU]
        Sanfilippo syndrome C (GDGDB) [HGSNAT]
        Sanfilippo syndrome D (GDGDB) [GNS]
        Wolman disease (GDGDB) [LIPA]
        
        Vomiting
        Niemann-Pick disease, type A (GDGDB) [SMPD1]
        Wolman disease (GDGDB) [LIPA]
        
        Urological Manifestations
        Lower Urinary Tract Symptoms
        Urinary Incontinence
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
        
        Neurologic Manifestations
        Sleep Disorders
        Sanfilippo syndrome A (GDGDB) [SGSH]
        Sanfilippo syndrome B (GDGDB) [NAGLU]
        Sanfilippo syndrome C (GDGDB) [HGSNAT]
        Sanfilippo syndrome D (GDGDB) [GNS]
        Niemann-Pick disease, type A (GDGDB) [SMPD1]
        
        Respiratory Tract Diseases
        Lung Diseases
        Hurler syndrome (GDGDB) [IDUA]
        Hurler-Scheie syndrome (GDGDB) [IDUA]
        Scheie syndrome (GDGDB) [IDUA]
        Gaucher disease, type I (GDGDB) [GBA]
        Gaucher disease, type II (GDGDB) [GBA]
        Gaucher disease, type III (GDGDB) [GBA]
        Niemann-Pick disease, type A (GDGDB) [SMPD1]
        Niemann-Pick disease, type B (GDGDB) [SMPD1]
        Niemann-Pick disease, type C1 (GDGDB) [NPC1]
        Niemann-Pick disease, type C2 (GDGDB) [NPC2]
        Farber Lipogranulomatosis (GDGDB) [ASAH1]
        Farber Lipogranulomatosis, type 1 [ASAH1]
        Farber Lipogranulomatosis, type 4 [ASAH1]
        
        Pompe disease (GDGDB) [GAA]
        
        Respiration Disorders
        Apnea
        Sleep Apnea Syndromes
        Sleep Apnea, Obstructive
        Hurler syndrome (GDGDB) [IDUA]
        Hurler-Scheie syndrome (GDGDB) [IDUA]
        Scheie syndrome (GDGDB) [IDUA]
        Mucopolysaccharidosis II (GDGDB) [IDS]
        Morquio syndrome A (GDGDB) [GALNS]
        Morquio syndrome B (GDGDB) [GLB1]
        Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
        Mucopolysaccharidosis VII (GDGDB) [GUSB]
        
        Dyspnea
        Gaucher disease, type II (GDGDB) [GBA]
        Krabbe disease (GDGDB) [GALC]
        Krabbe disease, infantile form [GALC]
        
        Niemann-Pick disease, type C1 (GDGDB) [NPC1]
        Niemann-Pick disease, type C2 (GDGDB) [NPC2]
        Farber Lipogranulomatosis (GDGDB) [ASAH1]
        Pompe disease (GDGDB) [GAA]
        
        Hoarseness
        Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
        Hurler syndrome (GDGDB) [IDUA]
        Hurler-Scheie syndrome (GDGDB) [IDUA]
        Scheie syndrome (GDGDB) [IDUA]
        Mucopolysaccharidosis II (GDGDB) [IDS]
        Farber Lipogranulomatosis (GDGDB) [ASAH1]
        
        Respiratory Insufficiency
        Airway Obstruction
        Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
        Hurler syndrome (GDGDB) [IDUA]
        Hurler-Scheie syndrome (GDGDB) [IDUA]
        Scheie syndrome (GDGDB) [IDUA]
        Mucopolysaccharidosis II (GDGDB) [IDS]
        Morquio syndrome A (GDGDB) [GALNS]
        Morquio syndrome B (GDGDB) [GLB1]
        Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
        Mucopolysaccharidosis VII (GDGDB) [GUSB]
        
        Krabbe disease (GDGDB) [GALC]
        Krabbe disease, infantile form [GALC]
        
        Combined saposin deficiency (GDGDB) [PSAP]
        Pompe disease (GDGDB) [GAA]
        
        Respiratory Tract Infections
        Aspartylglucosaminuria (GDGDB) [AGA]
        Fucosidosis (GDGDB) [FUCA1]
        Alpha-mannosidosis (GDGDB) [MAN2B1]
        Beta-mannosidosis (GDGDB) [MANBA]
        Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
        Mucolipidosis III (alpha/beta) (GDGDB) [GNPTAB]
        Hurler syndrome (GDGDB) [IDUA]
        Hurler-Scheie syndrome (GDGDB) [IDUA]
        Scheie syndrome (GDGDB) [IDUA]
        Mucopolysaccharidosis II (GDGDB) [IDS]
        Sanfilippo syndrome A (GDGDB) [SGSH]
        Sanfilippo syndrome B (GDGDB) [NAGLU]
        Sanfilippo syndrome C (GDGDB) [HGSNAT]
        Sanfilippo syndrome D (GDGDB) [GNS]
        Morquio syndrome A (GDGDB) [GALNS]
        Morquio syndrome B (GDGDB) [GLB1]
        Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
        Mucopolysaccharidosis VII (GDGDB) [GUSB]
        Niemann-Pick disease, type A (GDGDB) [SMPD1]
        Niemann-Pick disease, type B (GDGDB) [SMPD1]
        Niemann-Pick disease, type C1 (GDGDB) [NPC1]
        Niemann-Pick disease, type C2 (GDGDB) [NPC2]
        Combined saposin deficiency (GDGDB) [PSAP]
        Pompe disease (GDGDB) [GAA]
        
        Skin and Connective Tissue Diseases
        Connective Tissue Diseases
        Cutis Laxa
        Aspartylglucosaminuria (GDGDB) [AGA]
        
        Mucinoses
        Hurler syndrome (GDGDB) [IDUA]
        Hurler-Scheie syndrome (GDGDB) [IDUA]
        Scheie syndrome (GDGDB) [IDUA]
        Mucopolysaccharidosis II (GDGDB) [IDS]
        Mucopolysaccharidosis III
        Mucopolysaccharidosis IV
        Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
        Mucopolysaccharidosis VII (GDGDB) [GUSB]
        
        Skin Diseases
        Skin Abnormalities
        Ichthyosis
        Gaucher disease, type II (GDGDB) [GBA]
        Gaucher disease, type II, perinatal lethal form [GBA]
        
        Multiple sulfatase deficiency (GDGDB) [SUMF1]
        
        Gaucher disease, type II (GDGDB) [GBA]
        Gaucher disease, type II, perinatal lethal form [GBA]
        
        Sweat Gland Diseases
        Hypohidrosis
        Fabry disease (GDGDB) [GLA]
        
        Fabry disease (GDGDB) [GLA]
        
        Stomatognathic Diseases
        Mouth Diseases
        Periodontal Diseases
        Gingival Diseases
        Gingival Overgrowth
        Gingival Hyperplasia
        Alpha-mannosidosis (GDGDB) [MAN2B1]
        Sialidosis (GDGDB) [NEU1]
        Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
        GM1-gangliosidosis, type I (GDGDB) [GLB1]
        GM1-gangliosidosis, type II (GDGDB) [GLB1]
        GM1-gangliosidosis, type III (GDGDB) [GLB1]
        
        Tongue Diseases
        Macroglossia
        Alpha-mannosidosis (GDGDB) [MAN2B1]
        Hurler syndrome (GDGDB) [IDUA]
        Hurler-Scheie syndrome (GDGDB) [IDUA]
        Scheie syndrome (GDGDB) [IDUA]
        Mucopolysaccharidosis II (GDGDB) [IDS]
        Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
        Mucopolysaccharidosis VII (GDGDB) [GUSB]
        Pompe disease (GDGDB) [GAA]
        Pompe disease, infantile-onset form [GAA]
        
        Stomatognathic System Abnormalities
        Maxillofacial Abnormalities
        Aspartylglucosaminuria (GDGDB) [AGA]
        Fucosidosis (GDGDB) [FUCA1]
        Alpha-mannosidosis (GDGDB) [MAN2B1]
        Beta-mannosidosis (GDGDB) [MANBA]
        Sialidosis (GDGDB) [NEU1]
        Galactosialidosis (GDGDB) [CTSA]
        Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
        Mucolipidosis III (alpha/beta) (GDGDB) [GNPTAB]
        Hurler syndrome (GDGDB) [IDUA]
        Hurler-Scheie syndrome (GDGDB) [IDUA]
        Scheie syndrome (GDGDB) [IDUA]
        Sanfilippo syndrome A (GDGDB) [SGSH]
        Sanfilippo syndrome B (GDGDB) [NAGLU]
        Sanfilippo syndrome C (GDGDB) [HGSNAT]
        Sanfilippo syndrome D (GDGDB) [GNS]
        Morquio syndrome A (GDGDB) [GALNS]
        Morquio syndrome B (GDGDB) [GLB1]
        Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
        Mucopolysaccharidosis VII (GDGDB) [GUSB]
        GM1-gangliosidosis, type I (GDGDB) [GLB1]
        GM1-gangliosidosis, type II (GDGDB) [GLB1]
        GM1-gangliosidosis, type III (GDGDB) [GLB1]
        Gaucher disease, type II (GDGDB) [GBA]
        Gaucher disease, type II, perinatal lethal form [GBA]
        
        Multiple sulfatase deficiency (GDGDB) [SUMF1]
        
        Psychiatry and Psychology
        Behavior and Behavior Mechanisms
        Behavior
        Behavioral Symptoms
        Child Reactive Disorders
        Beta-mannosidosis (GDGDB) [MANBA]
        
        Delusions
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, adult form [ARSA]
        
        Depression
        Alpha-mannosidosis (GDGDB) [MAN2B1]
        Beta-mannosidosis (GDGDB) [MANBA]
        
        Aspartylglucosaminuria (GDGDB) [AGA]
        Alpha-mannosidosis (GDGDB) [MAN2B1]
        Beta-mannosidosis (GDGDB) [MANBA]
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
        Niemann-Pick disease, type C1 (GDGDB) [NPC1]
        Niemann-Pick disease, type C2 (GDGDB) [NPC2]
        
        Mental Disorders
        Mental Disorders Diagnosed in Childhood
        Anxiety, Separation
        Alpha-mannosidosis (GDGDB) [MAN2B1]
        
        Child Behavior Disorders
        Alpha-mannosidosis (GDGDB) [MAN2B1]
        Schindler disease
        Sanfilippo syndrome A (GDGDB) [SGSH]
        Sanfilippo syndrome B (GDGDB) [NAGLU]
        Sanfilippo syndrome C (GDGDB) [HGSNAT]
        Sanfilippo syndrome D (GDGDB) [GNS]
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
        
        Developmental Disabilities
        Aspartylglucosaminuria (GDGDB) [AGA]
        Schindler disease, type I (GDGDB) [NAGA]
        Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
        Hurler syndrome (GDGDB) [IDUA]
        Hurler-Scheie syndrome (GDGDB) [IDUA]
        Mucopolysaccharidosis II (GDGDB) [IDS]
        Sanfilippo syndrome A (GDGDB) [SGSH]
        Sanfilippo syndrome B (GDGDB) [NAGLU]
        Sanfilippo syndrome C (GDGDB) [HGSNAT]
        Sanfilippo syndrome D (GDGDB) [GNS]
        Mucopolysaccharidosis VII (GDGDB) [GUSB]
        GM1-gangliosidosis, type I (GDGDB) [GLB1]
        GM1-gangliosidosis, type II (GDGDB) [GLB1]
        GM1-gangliosidosis, type III (GDGDB) [GLB1]
        Tay-Sachs disease (GDGDB) [HEXA]
        Sandhoff disease (GDGDB) [HEXB]
        GM2-gangliosidosis, AB variant (GDGDB) [GM2A]
        Gaucher disease, type II (GDGDB) [GBA]
        Krabbe disease (GDGDB) [GALC]
        Krabbe disease, infantile form [GALC]
        
        Multiple sulfatase deficiency (GDGDB) [SUMF1]
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
        Niemann-Pick disease, type A (GDGDB) [SMPD1]
        Niemann-Pick disease, type C1 (GDGDB) [NPC1]
        Niemann-Pick disease, type C2 (GDGDB) [NPC2]
        Wolman disease (GDGDB) [LIPA]
        
        Feeding and Eating Disorders of Childhood
        Krabbe disease (GDGDB) [GALC]
        Krabbe disease, infantile form [GALC]
        
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, infantile form [ARSA]
        
        Niemann-Pick disease, type A (GDGDB) [SMPD1]
        Niemann-Pick disease, type C1 (GDGDB) [NPC1]
        Niemann-Pick disease, type C2 (GDGDB) [NPC2]
        Combined saposin deficiency (GDGDB) [PSAP]
        Pompe disease (GDGDB) [GAA]
        Pompe disease, infantile-onset form [GAA]
        
        Motor Skills Disorders
        Aspartylglucosaminuria (GDGDB) [AGA]
        Fucosidosis (GDGDB) [FUCA1]
        Alpha-mannosidosis (GDGDB) [MAN2B1]
        Beta-mannosidosis (GDGDB) [MANBA]
        Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
        Tay-Sachs disease (GDGDB) [HEXA]
        Sandhoff disease (GDGDB) [HEXB]
        GM2-gangliosidosis, AB variant (GDGDB) [GM2A]
        Gaucher disease, type II (GDGDB) [GBA]
        Krabbe disease (GDGDB) [GALC]
        Krabbe disease, infantile form [GALC]
        
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
        Niemann-Pick disease, type A (GDGDB) [SMPD1]
        Niemann-Pick disease, type C1 (GDGDB) [NPC1]
        Niemann-Pick disease, type C2 (GDGDB) [NPC2]
        
        Tay-Sachs disease (GDGDB) [HEXA]
        Sandhoff disease (GDGDB) [HEXB]
        Communication Disorders
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
        
        Intellectual Disability
        Aspartylglucosaminuria (GDGDB) [AGA]
        Fucosidosis (GDGDB) [FUCA1]
        Alpha-mannosidosis (GDGDB) [MAN2B1]
        Beta-mannosidosis (GDGDB) [MANBA]
        Sialidosis (GDGDB) [NEU1]
        Sialidosis type II [NEU1]
        
        Schindler disease, type I (GDGDB) [NAGA]
        Schindler disease, type II (GDGDB) [NAGA]
        Galactosialidosis (GDGDB) [CTSA]
        Mucolipidosis III (alpha/beta) (GDGDB) [GNPTAB]
        Hurler syndrome (GDGDB) [IDUA]
        Hurler-Scheie syndrome (GDGDB) [IDUA]
        Sanfilippo syndrome A (GDGDB) [SGSH]
        Sanfilippo syndrome B (GDGDB) [NAGLU]
        Sanfilippo syndrome C (GDGDB) [HGSNAT]
        Sanfilippo syndrome D (GDGDB) [GNS]
        Mucopolysaccharidosis VII (GDGDB) [GUSB]
        GM1-gangliosidosis, type I (GDGDB) [GLB1]
        GM1-gangliosidosis, type II (GDGDB) [GLB1]
        GM1-gangliosidosis, type III (GDGDB) [GLB1]
        Tay-Sachs disease (GDGDB) [HEXA]
        Sandhoff disease (GDGDB) [HEXB]
        Fabry disease (GDGDB) [GLA]
        Gaucher disease, type II (GDGDB) [GBA]
        Gaucher disease, type III (GDGDB) [GBA]
        Gaucher disease, atypical, due to saposin C deficiency (GDGDB) [PSAP]
        Krabbe disease (GDGDB) [GALC]
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
        Niemann-Pick disease, type A (GDGDB) [SMPD1]
        Niemann-Pick disease, type C1 (GDGDB) [NPC1]
        Niemann-Pick disease, type C2 (GDGDB) [NPC2]
        Farber Lipogranulomatosis (GDGDB) [ASAH1]
        
        Learning Disorders
        Aspartylglucosaminuria (GDGDB) [AGA]
        Alpha-mannosidosis (GDGDB) [MAN2B1]
        Schindler disease, type I (GDGDB) [NAGA]
        Mucolipidosis III (alpha/beta) (GDGDB) [GNPTAB]
        Hurler syndrome (GDGDB) [IDUA]
        Hurler-Scheie syndrome (GDGDB) [IDUA]
        Sanfilippo syndrome A (GDGDB) [SGSH]
        Sanfilippo syndrome B (GDGDB) [NAGLU]
        Sanfilippo syndrome C (GDGDB) [HGSNAT]
        Sanfilippo syndrome D (GDGDB) [GNS]
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
        Niemann-Pick disease, type A (GDGDB) [SMPD1]
        Niemann-Pick disease, type C1 (GDGDB) [NPC1]
        Niemann-Pick disease, type C2 (GDGDB) [NPC2]

Legend: