Legend:

• Concept Types
  • target (clinical findings)
  • classification term
  • pathway-based classification term
  • clinical findings
  • multiple types disease
  • single disease
  • disease type

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