GGDonto

Congenital, Hereditary, and Neonatal Diseases and Abnormalities related to Glycans
- Genetic Diseases, Inborn
  - Metabolism, Inborn Errors
    - Carbohydrate Metabolism, Inborn Errors (synthesis)
      - Hereditary disorders by systems
        Genetic disorders of glycan synthesis (by systems, signs and symptoms)
        Diseases
        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]
    - Lysosomal Storage Diseases (degradation)
      - Hereditary disorders by systems
        Genetic disorders of glycan degradation (by systems, signs and symptoms)
        Diseases
        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]

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