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
        Nervous System Diseases
        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]
    - Lysosomal Storage Diseases (degradation)
      - Hereditary disorders by systems
        Genetic disorders of glycan degradation (by systems, signs and symptoms)
        Diseases
        Nervous System Diseases
        Neurologic Manifestations
        Dyskinesias
        Ataxia
        Aspartylglucosaminuria (GDGDB) [AGA]
        Alpha-mannosidosis (GDGDB) [MAN2B1]
        Sialidosis (GDGDB) [NEU1]
        Galactosialidosis (GDGDB) [CTSA]
        Tay-Sachs disease (GDGDB) [HEXA]
        Sandhoff disease (GDGDB) [HEXB]
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
        Niemann-Pick disease, type A (GDGDB) [SMPD1]
        Niemann-Pick disease, type C1 (GDGDB) [NPC1]
        Niemann-Pick disease, type C2 (GDGDB) [NPC2]
        
        Dystonia
        GM1-gangliosidosis, type I (GDGDB) [GLB1]
        GM1-gangliosidosis, type II (GDGDB) [GLB1]
        GM1-gangliosidosis, type III (GDGDB) [GLB1]
        Niemann-Pick disease, type A (GDGDB) [SMPD1]
        Niemann-Pick disease, type C1 (GDGDB) [NPC1]
        Niemann-Pick disease, type C2 (GDGDB) [NPC2]
        
        Myoclonus
        Sialidosis (GDGDB) [NEU1]
        Galactosialidosis (GDGDB) [CTSA]
        Farber Lipogranulomatosis (GDGDB) [ASAH1]
        Farber Lipogranulomatosis, type 5 [ASAH1]
        
        Combined saposin deficiency (GDGDB) [PSAP]
        
        Tremor
        Sialidosis (GDGDB) [NEU1]
        Niemann-Pick disease, type C1 (GDGDB) [NPC1]
        Niemann-Pick disease, type C2 (GDGDB) [NPC2]
        
        Hyperkinesis
        Combined saposin deficiency (GDGDB) [PSAP]
        
        Gait Disorders, Neurologic
        Sialidosis (GDGDB) [NEU1]
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
        
        Neurobehavioral Manifestations
        Communication Disorders
        Language Disorders
        Speech Disorders
        Aspartylglucosaminuria (GDGDB) [AGA]
        Alpha-mannosidosis (GDGDB) [MAN2B1]
        Beta-mannosidosis (GDGDB) [MANBA]
        Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
        Sanfilippo syndrome A (GDGDB) [SGSH]
        Sanfilippo syndrome B (GDGDB) [NAGLU]
        Sanfilippo syndrome C (GDGDB) [HGSNAT]
        Sanfilippo syndrome D (GDGDB) [GNS]
        Tay-Sachs disease (GDGDB) [HEXA]
        Sandhoff disease (GDGDB) [HEXB]
        Multiple sulfatase deficiency (GDGDB) [SUMF1]
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
        Niemann-Pick disease, type C1 (GDGDB) [NPC1]
        Niemann-Pick disease, type C2 (GDGDB) [NPC2]
        Farber Lipogranulomatosis (GDGDB) [ASAH1]
        Farber Lipogranulomatosis, type 5 [ASAH1]
        
        Learning Disorders
        Aspartylglucosaminuria (GDGDB) [AGA]
        Alpha-mannosidosis (GDGDB) [MAN2B1]
        Schindler disease, type I (GDGDB) [NAGA]
        Mucolipidosis III (alpha/beta) (GDGDB) [GNPTAB]
        Hurler syndrome (GDGDB) [IDUA]
        Hurler-Scheie syndrome (GDGDB) [IDUA]
        Sanfilippo syndrome A (GDGDB) [SGSH]
        Sanfilippo syndrome B (GDGDB) [NAGLU]
        Sanfilippo syndrome C (GDGDB) [HGSNAT]
        Sanfilippo syndrome D (GDGDB) [GNS]
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
        Niemann-Pick disease, type A (GDGDB) [SMPD1]
        Niemann-Pick disease, type C1 (GDGDB) [NPC1]
        Niemann-Pick disease, type C2 (GDGDB) [NPC2]
        
        Intellectual Disability
        Aspartylglucosaminuria (GDGDB) [AGA]
        Fucosidosis (GDGDB) [FUCA1]
        Alpha-mannosidosis (GDGDB) [MAN2B1]
        Beta-mannosidosis (GDGDB) [MANBA]
        Sialidosis (GDGDB) [NEU1]
        Sialidosis type II [NEU1]
        
        Schindler disease, type I (GDGDB) [NAGA]
        Schindler disease, type II (GDGDB) [NAGA]
        Galactosialidosis (GDGDB) [CTSA]
        Mucolipidosis III (alpha/beta) (GDGDB) [GNPTAB]
        Hurler syndrome (GDGDB) [IDUA]
        Hurler-Scheie syndrome (GDGDB) [IDUA]
        Sanfilippo syndrome A (GDGDB) [SGSH]
        Sanfilippo syndrome B (GDGDB) [NAGLU]
        Sanfilippo syndrome C (GDGDB) [HGSNAT]
        Sanfilippo syndrome D (GDGDB) [GNS]
        Mucopolysaccharidosis VII (GDGDB) [GUSB]
        GM1-gangliosidosis, type I (GDGDB) [GLB1]
        GM1-gangliosidosis, type II (GDGDB) [GLB1]
        GM1-gangliosidosis, type III (GDGDB) [GLB1]
        Tay-Sachs disease (GDGDB) [HEXA]
        Sandhoff disease (GDGDB) [HEXB]
        Fabry disease (GDGDB) [GLA]
        Gaucher disease, type II (GDGDB) [GBA]
        Gaucher disease, type III (GDGDB) [GBA]
        Gaucher disease, atypical, due to saposin C deficiency (GDGDB) [PSAP]
        Krabbe disease (GDGDB) [GALC]
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
        Niemann-Pick disease, type A (GDGDB) [SMPD1]
        Niemann-Pick disease, type C1 (GDGDB) [NPC1]
        Niemann-Pick disease, type C2 (GDGDB) [NPC2]
        Farber Lipogranulomatosis (GDGDB) [ASAH1]
        Mental Retardation, X-Linked
        Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
        
        Perceptual Disorders
        Hallucinations
        Alpha-mannosidosis (GDGDB) [MAN2B1]
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, adult form [ARSA]
        
        Neuromuscular Manifestations
        Fasciculation
        Gaucher disease, type II (GDGDB) [GBA]
        Combined saposin deficiency (GDGDB) [PSAP]
        
        Muscle Hypertonia
        Muscle Rigidity
        Krabbe disease (GDGDB) [GALC]
        Krabbe disease, infantile form [GALC]
        Krabbe disease, late-onset form [GALC]
        
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
        
        Muscle Spasticity
        Fucosidosis (GDGDB) [FUCA1]
        Tay-Sachs disease (GDGDB) [HEXA]
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
        Niemann-Pick disease, type A (GDGDB) [SMPD1]
        
        Muscle Hypotonia
        Beta-mannosidosis (GDGDB) [MANBA]
        Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
        Combined saposin deficiency (GDGDB) [PSAP]
        Wolman disease (GDGDB) [LIPA]
        Pompe disease (GDGDB) [GAA]
        
        Muscle Weakness
        Alpha-mannosidosis (GDGDB) [MAN2B1]
        GM1-gangliosidosis, type I (GDGDB) [GLB1]
        GM1-gangliosidosis, type II (GDGDB) [GLB1]
        GM1-gangliosidosis, type III (GDGDB) [GLB1]
        Tay-Sachs disease (GDGDB) [HEXA]
        Sandhoff disease (GDGDB) [HEXB]
        GM2-gangliosidosis, AB variant (GDGDB) [GM2A]
        Krabbe disease (GDGDB) [GALC]
        Krabbe disease, infantile form [GALC]
        Krabbe disease, late-onset form [GALC]
        
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
        Pompe disease (GDGDB) [GAA]
        
        Muscular Atrophy
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
        
        Pain
        Musculoskeletal Pain
        Mucolipidosis III (alpha/beta) (GDGDB) [GNPTAB]
        Hurler syndrome (GDGDB) [IDUA]
        Hurler-Scheie syndrome (GDGDB) [IDUA]
        Scheie syndrome (GDGDB) [IDUA]
        Fabry disease (GDGDB) [GLA]
        Gaucher disease, type I (GDGDB) [GBA]
        Gaucher disease, type III (GDGDB) [GBA]
        Gaucher disease, type IIIC (GDGDB) [GBA]
        Farber Lipogranulomatosis (GDGDB) [ASAH1]
        
        Paralysis
        Morquio syndrome A (GDGDB) [GALNS]
        Morquio syndrome B (GDGDB) [GLB1]
        Tay-Sachs disease (GDGDB) [HEXA]
        Sandhoff disease (GDGDB) [HEXB]
        GM2-gangliosidosis, AB variant (GDGDB) [GM2A]
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
        Farber Lipogranulomatosis (GDGDB) [ASAH1]
        Farber Lipogranulomatosis, type 5 [ASAH1]
        
        Facial Paralysis
        Niemann-Pick disease, type C1 (GDGDB) [NPC1]
        Niemann-Pick disease, type C2 (GDGDB) [NPC2]
        
        Paresis
        Paraparesis
        Paraparesis, Spastic
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
        Niemann-Pick disease, type A (GDGDB) [SMPD1]
        
        Seizures
        Aspartylglucosaminuria (GDGDB) [AGA]
        Fucosidosis (GDGDB) [FUCA1]
        Beta-mannosidosis (GDGDB) [MANBA]
        Sialidosis (GDGDB) [NEU1]
        Schindler disease, type I (GDGDB) [NAGA]
        Galactosialidosis (GDGDB) [CTSA]
        Sanfilippo syndrome A (GDGDB) [SGSH]
        Sanfilippo syndrome B (GDGDB) [NAGLU]
        Sanfilippo syndrome C (GDGDB) [HGSNAT]
        Sanfilippo syndrome D (GDGDB) [GNS]
        GM1-gangliosidosis, type I (GDGDB) [GLB1]
        GM1-gangliosidosis, type II (GDGDB) [GLB1]
        GM1-gangliosidosis, type III (GDGDB) [GLB1]
        Tay-Sachs disease (GDGDB) [HEXA]
        Sandhoff disease (GDGDB) [HEXB]
        GM2-gangliosidosis, AB variant (GDGDB) [GM2A]
        Gaucher disease, type II (GDGDB) [GBA]
        Gaucher disease, type III (GDGDB) [GBA]
        Krabbe disease (GDGDB) [GALC]
        Krabbe disease, infantile form [GALC]
        Krabbe disease, late-onset form [GALC]
        
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
        Niemann-Pick disease, type A (GDGDB) [SMPD1]
        Niemann-Pick disease, type C1 (GDGDB) [NPC1]
        Niemann-Pick disease, type C2 (GDGDB) [NPC2]
        Farber Lipogranulomatosis (GDGDB) [ASAH1]
        Farber Lipogranulomatosis, type 5 [ASAH1]
        
        Combined saposin deficiency (GDGDB) [PSAP]
        
        Sensation Disorders
        Hearing Disorders
        Hearing Loss
        Alpha-mannosidosis (GDGDB) [MAN2B1]
        Beta-mannosidosis (GDGDB) [MANBA]
        Sialidosis (GDGDB) [NEU1]
        Schindler disease, type II (GDGDB) [NAGA]
        Galactosialidosis (GDGDB) [CTSA]
        Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
        Hurler syndrome (GDGDB) [IDUA]
        Hurler-Scheie syndrome (GDGDB) [IDUA]
        Scheie syndrome (GDGDB) [IDUA]
        Mucopolysaccharidosis II (GDGDB) [IDS]
        Sanfilippo syndrome A (GDGDB) [SGSH]
        Sanfilippo syndrome B (GDGDB) [NAGLU]
        Sanfilippo syndrome C (GDGDB) [HGSNAT]
        Sanfilippo syndrome D (GDGDB) [GNS]
        Morquio syndrome A (GDGDB) [GALNS]
        Morquio syndrome B (GDGDB) [GLB1]
        Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
        Mucopolysaccharidosis VII (GDGDB) [GUSB]
        Tay-Sachs disease (GDGDB) [HEXA]
        Sandhoff disease (GDGDB) [HEXB]
        GM2-gangliosidosis, AB variant (GDGDB) [GM2A]
        Fabry disease (GDGDB) [GLA]
        Krabbe disease (GDGDB) [GALC]
        Krabbe disease, infantile form [GALC]
        Krabbe disease, late-onset form [GALC]
        
        Multiple sulfatase deficiency (GDGDB) [SUMF1]
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
        
        Tinnitus
        Fabry disease (GDGDB) [GLA]
        
        Somatosensory Disorders
        Hypesthesia
        Beta-mannosidosis (GDGDB) [MANBA]
        Schindler disease, type II (GDGDB) [NAGA]
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
        
        Paresthesia
        Fabry disease (GDGDB) [GLA]
        
        Vision Disorders
        Blindness
        Schindler disease, type I (GDGDB) [NAGA]
        Galactosialidosis (GDGDB) [CTSA]
        Hurler syndrome (GDGDB) [IDUA]
        Hurler-Scheie syndrome (GDGDB) [IDUA]
        Scheie syndrome (GDGDB) [IDUA]
        Morquio syndrome A (GDGDB) [GALNS]
        Morquio syndrome B (GDGDB) [GLB1]
        Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
        Mucopolysaccharidosis VII (GDGDB) [GUSB]
        GM1-gangliosidosis, type I (GDGDB) [GLB1]
        GM1-gangliosidosis, type II (GDGDB) [GLB1]
        GM1-gangliosidosis, type III (GDGDB) [GLB1]
        Tay-Sachs disease (GDGDB) [HEXA]
        Sandhoff disease (GDGDB) [HEXB]
        GM2-gangliosidosis, AB variant (GDGDB) [GM2A]
        Krabbe disease (GDGDB) [GALC]
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
        
        Vision, Low
        Sialidosis (GDGDB) [NEU1]
        Mucopolysaccharidosis II (GDGDB) [IDS]
        Sanfilippo syndrome A (GDGDB) [SGSH]
        Sanfilippo syndrome B (GDGDB) [NAGLU]
        Sanfilippo syndrome C (GDGDB) [HGSNAT]
        Sanfilippo syndrome D (GDGDB) [GNS]
        Gaucher disease, type IIIC (GDGDB) [GBA]
        
        Pathological Conditions, Signs and Symptoms
        Signs and Symptoms
        Neurologic Manifestations
        Sleep Disorders
        Sanfilippo syndrome A (GDGDB) [SGSH]
        Sanfilippo syndrome B (GDGDB) [NAGLU]
        Sanfilippo syndrome C (GDGDB) [HGSNAT]
        Sanfilippo syndrome D (GDGDB) [GNS]
        Niemann-Pick disease, type A (GDGDB) [SMPD1]

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