GGDonto

GGDonto: Genetic Glyco-Diseases Ontology

Legend:

Concept Types
- classification term
- pathway-based classification term
- clinical findings
- multiple types disease
- single disease
- disease type

Genetic disorders of glycan synthesis

Pathogenesis (traditional nomenclature)

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]

Pathogenesis (new nomenclature)

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
  - 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]

Genetic disorders of glycan synthesis (by systems, signs and symptoms)

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
  - 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
    - 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]

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