Phenotype: CNS hypomyelination (HP:0003429)
Associated genes and diseases:
gene_symbol: DPAGT1
disease_id: ORPHA:86309
disease_name: DPAGT1-CDG
CDG syndrome type Ij
CDG-Ij
CDG1J
Carbohydrate deficient glycoprotein syndrome type Ij
Congenital disorder of glycosylation type 1j
Congenital disorder of glycosylation type Ij
Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency
gene_symbol: PLP1
disease_id: ORPHA:280224
disease_name: Pelizaeus-Merzbacher disease, transitional form
Transitional PMD
gene_symbol: PLP1
disease_id: ORPHA:280234
disease_name: Null syndrome
PLP1 null syndrome
Pelizaeus-Merzbacher disease, null syndrome
gene_symbol: PLP1
disease_id: ORPHA:280229
disease_name: Pelizaeus-Merzbacher disease in female carriers
gene_symbol: PLP1
disease_id: OMIM:312080
disease_name: PELIZAEUS-MERZBACHER DISEASE
gene_symbol: ADSL
disease_id: OMIM:103050
disease_name: ADENYLOSUCCINASE DEFICIENCY
gene_symbol: POLR3B
disease_id: OMIM:614381
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM
gene_symbol: POLR3B
disease_id: ORPHA:88637
disease_name: Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
4H syndrome
gene_symbol: POLR3B
disease_id: OMIM:607694
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM
gene_symbol: STAMBP
disease_id: OMIM:614261
disease_name: MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME
gene_symbol: FBXL4
disease_id: OMIM:615471
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE)
gene_symbol: ACBD5
disease_id: OMIM:618863
disease_name: RETINAL DYSTROPHY WITH LEUKODYSTROPHY
gene_symbol: NKX6-2
disease_id: ORPHA:527497
disease_name: NKX6-2-related autosomal recessive hypomyelinating leukodystrophy
Autosomal recessive hypomyelinating leukodystrophy-progressive spastic ataxia
SPAX8
gene_symbol: NKX6-2
disease_id: OMIM:617560
disease_name: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY
gene_symbol: GJC2
disease_id: ORPHA:320401
disease_name: Autosomal recessive spastic paraplegia type 44
SPG44
gene_symbol: GJC2
disease_id: OMIM:613206
disease_name: SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE
gene_symbol: CNTNAP1
disease_id: OMIM:618186
disease_name: NEUROPATHY, CONGENITAL HYPOMYELINATING, 3
gene_symbol: DYRK1A
disease_id: ORPHA:268261
disease_name: DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
21q22.13q22.2 microdeletion syndrome
Del(21)(q22.13q22.2)
Monosomy 21q22.13q22.2
gene_symbol: FUCA1
disease_id: OMIM:230000
disease_name: FUCOSIDOSIS
gene_symbol: TRAPPC11
disease_id: OMIM:615356
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18
gene_symbol: NOP10
disease_id: OMIM:620425
disease_name: CATARACTS, HEARING IMPAIRMENT, NEPHROTIC SYNDROME, AND ENTEROCOLITIS 2
gene_symbol: SMPD4
disease_id: OMIM:618622
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES
gene_symbol: SNIP1
disease_id: OMIM:614501
disease_name: PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM
gene_symbol: CHKA
disease_id: OMIM:620023
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, MOVEMENT ABNORMALITIES, AND SEIZURES
gene_symbol: POLR3A
disease_id: ORPHA:447896
disease_name: Tremor-ataxia-central hypomyelination syndrome
TACH syndrome
gene_symbol: POLR3A
disease_id: ORPHA:88637
disease_name: Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
4H syndrome
gene_symbol: POLR3A
disease_id: ORPHA:3455
disease_name: Wiedemann-Rautenstrauch syndrome
Neonatal progeroid syndrome
gene_symbol: POLR3A
disease_id: OMIM:607694
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM
gene_symbol: FUS
disease_id: ORPHA:300605
disease_name: Juvenile amyotrophic lateral sclerosis
JALS
Juvenile Charcot disease
Juvenile Lou Gehrig disease
gene_symbol: SPG11
disease_id: ORPHA:300605
disease_name: Juvenile amyotrophic lateral sclerosis
JALS
Juvenile Charcot disease
Juvenile Lou Gehrig disease
gene_symbol: SIGMAR1
disease_id: ORPHA:300605
disease_name: Juvenile amyotrophic lateral sclerosis
JALS
Juvenile Charcot disease
Juvenile Lou Gehrig disease
gene_symbol: SPTLC1
disease_id: ORPHA:300605
disease_name: Juvenile amyotrophic lateral sclerosis
JALS
Juvenile Charcot disease
Juvenile Lou Gehrig disease
gene_symbol: ALS2
disease_id: ORPHA:300605
disease_name: Juvenile amyotrophic lateral sclerosis
JALS
Juvenile Charcot disease
Juvenile Lou Gehrig disease
gene_symbol: POLR1C
disease_id: OMIM:616494
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 11
gene_symbol: POLR1C
disease_id: ORPHA:88637
disease_name: Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
4H syndrome
gene_symbol: LEMD2
disease_id: OMIM:619322
disease_name: MARBACH-RUSTAD PROGEROID SYNDROME
gene_symbol: YIF1B
disease_id: OMIM:619125
disease_name: KAYA-BARAKAT-MASSON SYNDROME
gene_symbol: DARS1
disease_id: OMIM:615281
disease_name: HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY
gene_symbol: RNF220
disease_id: OMIM:619688
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY
gene_symbol: HEXB
disease_id: OMIM:268800
disease_name: SANDHOFF DISEASE
gene_symbol: HEXB
disease_id: ORPHA:309155
disease_name: Sandhoff disease, infantile form
Beta-hexosaminidase subunit beta deficiency, infantile form
GM2 gangliosidosis, Sandhoff variant, infantile form
GM2 gangliosidosis, hexosaminidase A and B deficiency variant, infantile form
gene_symbol: QARS1
disease_id: OMIM:615760
disease_name: MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY
gene_symbol: MED27
disease_id: OMIM:619286
disease_name: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA
gene_symbol: AFG2A
disease_id: OMIM:616577
disease_name: EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME
gene_symbol: PRKDC
disease_id: OMIM:615966
disease_name: IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES
gene_symbol: GABRA2
disease_id: OMIM:618557
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 78
gene_symbol: AARS1
disease_id: OMIM:616339
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 29
gene_symbol: DALRD3
disease_id: OMIM:618910
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86
gene_symbol: CLDN11
disease_id: OMIM:619328
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 22
gene_symbol: PARS2
disease_id: OMIM:618437
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 75
gene_symbol: GABRA5
disease_id: OMIM:618559
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79
gene_symbol: POLR1A
disease_id: OMIM:620675
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 27
gene_symbol: DDOST
disease_id: ORPHA:300536
disease_name: DDOST-CDG
CDG syndrome type Ir
CDG-Ir
CDG1R
Carbohydrate deficient glycoprotein syndrome type Ir
Congenital disorder of glycosylation type 1r
Congenital disorder of glycosylation type Ir
gene_symbol: TBCD
disease_id: OMIM:617193
disease_name: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM
gene_symbol: EXOSC5
disease_id: OMIM:619576
disease_name: CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS
gene_symbol: BCAP31
disease_id: ORPHA:369939
disease_name: Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
Severe motor and intellectual disabilities-sensorineural hearing loss-dystonia syndrome
gene_symbol: MTHFS
disease_id: OMIM:618367
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION
gene_symbol: IFT56
disease_id: OMIM:619534
disease_name: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME
gene_symbol: PYCR2
disease_id: OMIM:616420
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 10
gene_symbol: PYCR2
disease_id: ORPHA:481152
disease_name: PYCR2-related microcephaly-progressive leukoencephalopathy
gene_symbol: SLC33A1
disease_id: OMIM:614482
disease_name: CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION
gene_symbol: ELOVL1
disease_id: OMIM:618527
disease_name: ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES
gene_symbol: SPTAN1
disease_id: OMIM:613477
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 5
gene_symbol: EPRS1
disease_id: OMIM:617951
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 15
gene_symbol: PEX13
disease_id: OMIM:614883
disease_name: PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER)
gene_symbol: RMND1
disease_id: OMIM:614922
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11
gene_symbol: GRM7
disease_id: OMIM:618922
disease_name: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES
gene_symbol: GAN
disease_id: ORPHA:643
disease_name: Giant axonal neuropathy
GAN
gene_symbol: NMNAT1
disease_id: OMIM:619260
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS
gene_symbol: GRIK2
disease_id: OMIM:619580
disease_name: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES
gene_symbol: AHCY
disease_id: ORPHA:88618
disease_name: S-adenosylhomocysteine hydrolase deficiency
gene_symbol: C2orf69
disease_id: OMIM:619423
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53
gene_symbol: PIGA
disease_id: OMIM:300868
disease_name: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2
gene_symbol: ATP6V1A
disease_id: OMIM:618012
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 93
gene_symbol: GLUL
disease_id: OMIM:620806
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 116
gene_symbol: GLUL
disease_id: OMIM:610015
disease_name: GLUTAMINE DEFICIENCY, CONGENITAL
gene_symbol: PURA
disease_id: OMIM:616158
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31
gene_symbol: HYCC1
disease_id: OMIM:610532
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 5
gene_symbol: EXOC2
disease_id: OMIM:619306
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA
gene_symbol: NARS2
disease_id: OMIM:616239
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24
gene_symbol: C2CD3
disease_id: OMIM:615948
disease_name: OROFACIODIGITAL SYNDROME XIV
gene_symbol: GDAP1
disease_id: OMIM:214400
disease_name: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A
gene_symbol: INTU
disease_id: OMIM:617926
disease_name: OROFACIODIGITAL SYNDROME XVII
gene_symbol: PI4KA
disease_id: OMIM:619708
disease_name: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2
gene_symbol: TIAM1
disease_id: OMIM:619908
disease_name: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND SEIZURES
gene_symbol: FH
disease_id: ORPHA:24
disease_name: Fumaric aciduria
Fumarase deficiency
gene_symbol: PIGY
disease_id: ORPHA:247262
disease_name: Hyperphosphatasia-intellectual disability syndrome
Mabry syndrome
gene_symbol: PIGO
disease_id: ORPHA:247262
disease_name: Hyperphosphatasia-intellectual disability syndrome
Mabry syndrome
gene_symbol: PGAP3
disease_id: ORPHA:247262
disease_name: Hyperphosphatasia-intellectual disability syndrome
Mabry syndrome
gene_symbol: PIGW
disease_id: ORPHA:247262
disease_name: Hyperphosphatasia-intellectual disability syndrome
Mabry syndrome
gene_symbol: PGAP2
disease_id: ORPHA:247262
disease_name: Hyperphosphatasia-intellectual disability syndrome
Mabry syndrome
gene_symbol: PIGV
disease_id: ORPHA:247262
disease_name: Hyperphosphatasia-intellectual disability syndrome
Mabry syndrome
gene_symbol: PIGL
disease_id: ORPHA:247262
disease_name: Hyperphosphatasia-intellectual disability syndrome
Mabry syndrome
gene_symbol: VPS11
disease_id: OMIM:616683
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 12
gene_symbol: STXBP1
disease_id: OMIM:612164
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 4
gene_symbol: TMTC3
disease_id: OMIM:617255
disease_name: LISSENCEPHALY 8
gene_symbol: SLC1A4
disease_id: ORPHA:447997
disease_name: Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
ASCT1 deficiency
Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
gene_symbol: CYB5A
disease_id: ORPHA:621
disease_name: Hereditary methemoglobinemia
Autosomal recessive methemoglobinemia
Congenital methemoglobinemia
gene_symbol: CYB5R3
disease_id: ORPHA:621
disease_name: Hereditary methemoglobinemia
Autosomal recessive methemoglobinemia
Congenital methemoglobinemia
gene_symbol: SLC25A12
disease_id: OMIM:612949
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 39
gene_symbol: ALG2
disease_id: ORPHA:79326
disease_name: ALG2-CDG
CDG syndrome type Ii
CDG-Ii
CDG1I
Carbohydrate deficient glycoprotein syndrome type Ii
Congenital disorder of glycosylation type 1i
Congenital disorder of glycosylation type Ii
Mannosyltransferase 2 deficiency
gene_symbol: EIF2B1
disease_id: OMIM:603896
disease_name: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
gene_symbol: WDR26
disease_id: ORPHA:513456
disease_name: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome
Skraban-Deardorff syndrome
gene_symbol: RARS1
disease_id: ORPHA:438114
disease_name: RARS-related autosomal recessive hypomyelinating leukodystrophy
gene_symbol: SOX10
disease_id: OMIM:611584
disease_name: WAARDENBURG SYNDROME, TYPE 2E
gene_symbol: PHGDH
disease_id: ORPHA:79351
disease_name: 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form
PHGDH deficiency, infantile/juvenile form
gene_symbol: TUBB4A
disease_id: OMIM:612438
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 6
gene_symbol: AHDC1
disease_id: OMIM:615829
disease_name: XIA-GIBBS SYNDROME