Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | AARS1 CL E G H | 16 | 20 | OMIM:616339 | Epileptic encephalopathy, early infantile, 29 | . | | | | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | ACBD5 CL E G H | 91452 | 23338 | OMIM:618863 | RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD | | | | 1 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | ADSL CL E G H | 158 | 291 | OMIM:103050 | Adenylosuccinase deficiency | . | | | 118 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | AHCY CL E G H | 191 | 343 | ORPHA:88618 | S-adenosylhomocysteine hydrolase deficiency | HP:0040282 - Frequent | | | 31 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | ALG2 CL E G H | 85365 | 23159 | ORPHA:79326 | ALG2-CDG | | | | 46 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | ALS2 CL E G H | 57679 | 443 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 114 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | ATP6V1A CL E G H | 523 | 851 | OMIM:618012 | Epileptic encephalopathy, infantile or early childhood, 3 | . | | | 3 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | BCAP31 CL E G H | 10134 | 16695 | OMIM:300475 | Deafness, dystonia, and cerebral hypomyelination | . | | | 8 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | BCAP31 CL E G H | 10134 | 16695 | ORPHA:369939 | Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | C2ORF69 CL E G H | 205327 | 26799 | OMIM:619423 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53 | | | | | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | CHKA CL E G H | 1119 | 1937 | OMIM:620023 | | | | | | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | CLDN11 CL E G H | 5010 | 8514 | OMIM:619328 | Leukodystrophy, hypomyelinating, 22 | | | | | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | CNTNAP1 CL E G H | 8506 | 8011 | OMIM:618186 | Neuropathy, congenital hypomyelinating, 3 | . | | | 9 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | CYB5A CL E G H | 1528 | 2570 | ORPHA:621 | Hereditary methemoglobinemia | | | | 2 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | CYB5R3 CL E G H | 1727 | 2873 | ORPHA:621 | Hereditary methemoglobinemia | | | | 24 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | DALRD3 CL E G H | 55152 | 25536 | OMIM:618910 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86; DEE86 | | | | | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | DARS1 CL E G H | 1615 | 2678 | OMIM:615281 | HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL | | | | | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | DDOST CL E G H | 1650 | 2728 | ORPHA:300536 | DDOST-CDG | HP:0040281 - Very frequent | | | 62 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | DPAGT1 CL E G H | 1798 | 2995 | ORPHA:86309 | DPAGT1-CDG | HP:0040283 - Occasional | | | 38 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | DYRK1A CL E G H | 1859 | 3091 | ORPHA:268261 | DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion | HP:0040282 - Frequent | | | 134 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | EIF2B1 CL E G H | 1967 | 3257 | OMIM:603896 | Leukoencephalopathy with vanishing white matter | | | | 42 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | EIF2B2 CL E G H | 8892 | 3258 | OMIM:603896 | Leukoencephalopathy with vanishing white matter | | | | 24 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | EIF2B3 CL E G H | 8891 | 3259 | OMIM:603896 | Leukoencephalopathy with vanishing white matter | | | | 32 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | EIF2B4 CL E G H | 8890 | 3260 | OMIM:603896 | Leukoencephalopathy with vanishing white matter | | | | 38 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | EIF2B5 CL E G H | 8893 | 3261 | OMIM:603896 | Leukoencephalopathy with vanishing white matter | | | | 48 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | ELOVL1 CL E G H | 64834 | 14418 | OMIM:618527 | Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features | | | | | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | EPRS1 CL E G H | 2058 | 3418 | OMIM:617951 | Leukodystrophy, hypomyelinating, 15 | | | | | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | EXOC2 CL E G H | 55770 | 24968 | OMIM:619306 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH | | | | 1 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | EXOSC5 CL E G H | 56915 | 24662 | OMIM:619576 | CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC | | | | | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | FUS CL E G H | 2521 | 4010 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 105 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | GABRA2 CL E G H | 2555 | 4076 | OMIM:618557 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 78; DEE78 | | | | 4 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | GABRA5 CL E G H | 2558 | 4079 | OMIM:618559 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79; DEE79 | | | | | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | GAN CL E G H | 8139 | 4137 | ORPHA:643 | Giant axonal neuropathy | HP:0040281 - Very frequent | | | 121 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | GDAP1 CL E G H | 54332 | 15968 | OMIM:214400 | Charcot-Marie-Tooth disease, type 4A | . | | | 108 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | GJC2 CL E G H | 57165 | 17494 | ORPHA:320401 | Autosomal recessive spastic paraplegia type 44 | HP:0040281 - Very frequent | | | 37 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | GJC2 CL E G H | 57165 | 17494 | OMIM:608804 | Leukodystrophy, hypomyelinating, 2 | | | | 37 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | GLUL CL E G H | 2752 | 4341 | OMIM:610015 | GLUTAMINE DEFICIENCY, CONGENITAL | | | | 98 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | GRIK2 CL E G H | 2898 | 4580 | OMIM:619580 | NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS | | | | 32 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | GRM7 CL E G H | 2917 | 4599 | OMIM:618922 | NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA | | | | 5 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | HEXB CL E G H | 3074 | 4879 | OMIM:268800 | Sandhoff disease | | | | 80 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | HEXB CL E G H | 3074 | 4879 | ORPHA:309155 | Sandhoff disease, infantile form | | | | 80 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | HYCC1 CL E G H | 84668 | 24587 | ORPHA:85163 | Hypomyelination-congenital cataract syndrome | | | | | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | HYCC1 CL E G H | 84668 | 24587 | OMIM:610532 | Leukodystrophy, hypomyelinating, 5 | | | | | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | INTU CL E G H | 27152 | 29239 | OMIM:617926 | OROFACIODIGITAL SYNDROME XVII; OFD17 | | | | | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | LEMD2 CL E G H | 221496 | 21244 | OMIM:619322 | MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS | | | | 1 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | MED27 CL E G H | 9442 | 2377 | OMIM:619286 | NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC | | | | | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | MTHFS CL E G H | 10588 | 7437 | OMIM:618367 | Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination | . | | | | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | NARS2 CL E G H | 79731 | 26274 | OMIM:616239 | Combined oxidative phosphorylation deficiency 24 | . | | | 34 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | NKX6-2 CL E G H | 84504 | 19321 | ORPHA:527497 | NKX6-2-related autosomal recessive hypomyelinating leukodystrophy | HP:0040282 - Frequent | | | 2 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | NKX6-2 CL E G H | 84504 | 19321 | OMIM:617560 | Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy | | | | 2 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | NMNAT1 CL E G H | 64802 | 17877 | OMIM:619260 | SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA | | | | 15 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | PARS2 CL E G H | 25973 | 30563 | OMIM:618437 | Epileptic encephalopathy, early infantile, 75 | | | | 14 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | PEX13 CL E G H | 5194 | 8855 | OMIM:614883 | Peroxisome biogenesis disorder 11A (Zellweger) | | | | 66 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | PGAP2 CL E G H | 27315 | 17893 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | | | | 8 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | PGAP3 CL E G H | 93210 | 23719 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | | | | 20 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | PHGDH CL E G H | 26227 | 8923 | ORPHA:79351 | 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form | | | | 37 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | PI4KA CL E G H | 5297 | 8983 | OMIM:619708 | GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2 | | | | 11 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | PIGL CL E G H | 9487 | 8966 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | | | | 36 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | PIGO CL E G H | 84720 | 23215 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | | | | 84 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | PIGV CL E G H | 55650 | 26031 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | | | | 57 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | PIGW CL E G H | 284098 | 23213 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | | | | 6 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | PIGY CL E G H | 84992 | 28213 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | | | | 2 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | PLP1 CL E G H | 5354 | 9086 | ORPHA:280234 | Null syndrome | HP:0040281 - Very frequent | | | 60 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | PLP1 CL E G H | 5354 | 9086 | OMIM:312080 | Pelizaeus-Merzbacher disease | | | | 60 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | PLP1 CL E G H | 5354 | 9086 | ORPHA:280229 | Pelizaeus-Merzbacher disease in female carriers | HP:0040283 - Occasional | | | 60 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | PLP1 CL E G H | 5354 | 9086 | ORPHA:280219 | Pelizaeus-Merzbacher disease, classic form | | | | 60 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | PLP1 CL E G H | 5354 | 9086 | ORPHA:280210 | Pelizaeus-Merzbacher disease, connatal form | | | | 60 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | PLP1 CL E G H | 5354 | 9086 | ORPHA:280224 | Pelizaeus-Merzbacher disease, transitional form | HP:0040281 - Very frequent | | | 60 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | POLR1C CL E G H | 9533 | 20194 | ORPHA:88637 | Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome | HP:0040281 - Very frequent | | | 38 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | POLR1C CL E G H | 9533 | 20194 | OMIM:616494 | Leukodystrophy, hypomyelinating, 11 | | | | 38 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | POLR3A CL E G H | 11128 | 30074 | ORPHA:88637 | Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome | HP:0040281 - Very frequent | | | 138 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | POLR3A CL E G H | 11128 | 30074 | OMIM:607694 | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism | . | | | 138 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | POLR3A CL E G H | 11128 | 30074 | ORPHA:447896 | Tremor-ataxia-central hypomyelination syndrome | HP:0040282 - Frequent | | | 138 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | POLR3A CL E G H | 11128 | 30074 | ORPHA:3455 | Wiedemann-Rautenstrauch syndrome | HP:0040282 - Frequent | | | 138 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | POLR3B CL E G H | 55703 | 30348 | ORPHA:88637 | Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome | HP:0040281 - Very frequent | | | 67 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | POLR3B CL E G H | 55703 | 30348 | OMIM:607694 | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism | . | | | 67 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | POLR3B CL E G H | 55703 | 30348 | OMIM:614381 | Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism | | | | 67 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | PRKDC CL E G H | 5591 | 9413 | OMIM:615966 | Immunodeficiency 26 with or without neurologic abnormalities | HP:0040283 - Occasional | | | 42 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | PURA CL E G H | 5813 | 9701 | OMIM:616158 | Mental retardation, autosomal dominant 31 | . | | | 53 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | PYCR2 CL E G H | 29920 | 30262 | OMIM:616420 | Leukodystrophy, hypomyelinating, 10 | . | | | 11 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | PYCR2 CL E G H | 29920 | 30262 | ORPHA:481152 | PYCR2-related microcephaly-progressive leukoencephalopathy | HP:0040282 - Frequent | | | 11 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | QARS1 CL E G H | 5859 | 9751 | OMIM:615760 | Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy | . | | | | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | RARS1 CL E G H | 5917 | 9870 | ORPHA:438114 | RARS-related autosomal recessive hypomyelinating leukodystrophy | | | | | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | RMND1 CL E G H | 55005 | 21176 | OMIM:614922 | Combined oxidative phosphorylation deficiency 11 | . | | | 26 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | RNF220 CL E G H | 55182 | 25552 | OMIM:619688 | LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY; HLD23 | | | | 1 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | SIGMAR1 CL E G H | 10280 | 8157 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 6 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | SLC1A4 CL E G H | 6509 | 10942 | ORPHA:447997 | Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome | | | | 4 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | SLC25A12 CL E G H | 8604 | 10982 | OMIM:612949 | Epileptic encephalopathy, early infantile, 39 | | | | 44 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | SLC33A1 CL E G H | 9197 | 95 | OMIM:614482 | Congenital cataracts, hearing loss, and neurodegeneration | . | | | 48 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | SMPD4 CL E G H | 55627 | 32949 | OMIM:618622 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA | | | | 1 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | SNIP1 CL E G H | 79753 | 30587 | OMIM:614501 | Psychomotor retardation, epilepsy, and craniofacial dysmorphism | . | | | 3 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | SOX10 CL E G H | 6663 | 11190 | OMIM:611584 | Waardenburg syndrome, type 2E | | | | 61 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | SPATA5 CL E G H | 166378 | 18119 | OMIM:616577 | Epilepsy, hearing loss, and mental retardation syndrome | HP:0040283 - Occasional | | | 19 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | SPATA5 CL E G H | 166378 | 18119 | ORPHA:457351 | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome | | | | 19 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | SPG11 CL E G H | 80208 | 11226 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 287 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | SPTAN1 CL E G H | 6709 | 11273 | OMIM:613477 | Epileptic encephalopathy, early infantile, 5 | . | | | 416 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | SPTLC1 CL E G H | 10558 | 11277 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 54 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | STXBP1 CL E G H | 6812 | 11444 | OMIM:612164 | Epileptic encephalopathy, early infantile, 4 | | | | 237 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | TBCD CL E G H | 6904 | 11581 | ORPHA:496641 | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | | | | 16 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | TBCD CL E G H | 6904 | 11581 | OMIM:617193 | ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT | | | | 16 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | TIAM1 CL E G H | 7074 | 11805 | OMIM:619908 | | | | | 2 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | TMTC3 CL E G H | 160418 | 26899 | OMIM:617255 | Lissencephaly 8 | | | | 5 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | TRAPPC11 CL E G H | 60684 | 25751 | OMIM:615356 | Muscular dystrophy, limb-girdle, autosomal recessive 18 | HP:0040283 - Occasional | | | 27 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | TTC26 CL E G H | 79989 | 21882 | OMIM:619534 | BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS | | | | | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | TUBB4A CL E G H | 10382 | 20774 | OMIM:612438 | Leukodystrophy, hypomyelinating, 6 | | | | 66 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | VPS11 CL E G H | 55823 | 14583 | OMIM:616683 | Leukodystrophy, hypomyelinating, 12 | | | | 1 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | WDR26 CL E G H | 80232 | 21208 | ORPHA:513456 | Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome | | | | 8 | | |
HP:0003429 | HP:0003429 | CNS hypomyelination | 0 | YIF1B CL E G H | 90522 | 30511 | OMIM:619125 | KAYA-BARAKAT-MASSON SYNDROME; KABAMAS | | | | | | |
HP:0003429 | HP:0033846 | Spinal hypomyelination | 1 | CL E G H | | | | | | | | | | |
HP:0003429 | HP:0006808 | Cerebral hypomyelination | 1 | ADSL CL E G H | 158 | 291 | OMIM:103050 | Adenylosuccinase deficiency | . | | | 118 | | |
HP:0003429 | HP:0006808 | Cerebral hypomyelination | 1 | ALG2 CL E G H | 85365 | 23159 | ORPHA:79326 | ALG2-CDG | HP:0040283 - Occasional | | | 46 | | |
HP:0003429 | HP:0006808 | Cerebral hypomyelination | 1 | BCAP31 CL E G H | 10134 | 16695 | OMIM:300475 | Deafness, dystonia, and cerebral hypomyelination | . | | | 8 | | |
HP:0003429 | HP:0006808 | Cerebral hypomyelination | 1 | BCAP31 CL E G H | 10134 | 16695 | ORPHA:369939 | Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0003429 | HP:0006808 | Cerebral hypomyelination | 1 | CYB5A CL E G H | 1528 | 2570 | ORPHA:621 | Hereditary methemoglobinemia | HP:0040283 - Occasional | | | 2 | | |
HP:0003429 | HP:0006808 | Cerebral hypomyelination | 1 | CYB5R3 CL E G H | 1727 | 2873 | ORPHA:621 | Hereditary methemoglobinemia | HP:0040283 - Occasional | | | 24 | | |
HP:0003429 | HP:0006808 | Cerebral hypomyelination | 1 | EIF2B1 CL E G H | 1967 | 3257 | OMIM:603896 | Leukoencephalopathy with vanishing white matter | . | | | 42 | | |
HP:0003429 | HP:0006808 | Cerebral hypomyelination | 1 | EIF2B2 CL E G H | 8892 | 3258 | OMIM:603896 | Leukoencephalopathy with vanishing white matter | . | | | 24 | | |
HP:0003429 | HP:0006808 | Cerebral hypomyelination | 1 | EIF2B3 CL E G H | 8891 | 3259 | OMIM:603896 | Leukoencephalopathy with vanishing white matter | . | | | 32 | | |
HP:0003429 | HP:0006808 | Cerebral hypomyelination | 1 | EIF2B4 CL E G H | 8890 | 3260 | OMIM:603896 | Leukoencephalopathy with vanishing white matter | . | | | 38 | | |
HP:0003429 | HP:0006808 | Cerebral hypomyelination | 1 | EIF2B5 CL E G H | 8893 | 3261 | OMIM:603896 | Leukoencephalopathy with vanishing white matter | . | | | 48 | | |
HP:0003429 | HP:0006808 | Cerebral hypomyelination | 1 | GJC2 CL E G H | 57165 | 17494 | OMIM:608804 | Leukodystrophy, hypomyelinating, 2 | . | | | 37 | | |
HP:0003429 | HP:0006808 | Cerebral hypomyelination | 1 | HYCC1 CL E G H | 84668 | 24587 | ORPHA:85163 | Hypomyelination-congenital cataract syndrome | HP:0040281 - Very frequent | | | | | |
HP:0003429 | HP:0006808 | Cerebral hypomyelination | 1 | PGAP2 CL E G H | 27315 | 17893 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0003429 | HP:0006808 | Cerebral hypomyelination | 1 | PGAP3 CL E G H | 93210 | 23719 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040283 - Occasional | | | 20 | | |
HP:0003429 | HP:0006808 | Cerebral hypomyelination | 1 | PHGDH CL E G H | 26227 | 8923 | ORPHA:79351 | 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form | HP:0040282 - Frequent | | | 37 | | |
HP:0003429 | HP:0006808 | Cerebral hypomyelination | 1 | PIGL CL E G H | 9487 | 8966 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040283 - Occasional | | | 36 | | |
HP:0003429 | HP:0006808 | Cerebral hypomyelination | 1 | PIGO CL E G H | 84720 | 23215 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040283 - Occasional | | | 84 | | |
HP:0003429 | HP:0006808 | Cerebral hypomyelination | 1 | PIGV CL E G H | 55650 | 26031 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040283 - Occasional | | | 57 | | |
HP:0003429 | HP:0006808 | Cerebral hypomyelination | 1 | PIGW CL E G H | 284098 | 23213 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0003429 | HP:0006808 | Cerebral hypomyelination | 1 | PIGY CL E G H | 84992 | 28213 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0003429 | HP:0006808 | Cerebral hypomyelination | 1 | PLP1 CL E G H | 5354 | 9086 | ORPHA:280219 | Pelizaeus-Merzbacher disease, classic form | HP:0040281 - Very frequent | | | 60 | | |
HP:0003429 | HP:0006808 | Cerebral hypomyelination | 1 | PLP1 CL E G H | 5354 | 9086 | ORPHA:280210 | Pelizaeus-Merzbacher disease, connatal form | HP:0040281 - Very frequent | | | 60 | | |
HP:0003429 | HP:0006808 | Cerebral hypomyelination | 1 | POLR3B CL E G H | 55703 | 30348 | OMIM:614381 | Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism | . | | | 67 | | |
HP:0003429 | HP:0006808 | Cerebral hypomyelination | 1 | RARS1 CL E G H | 5917 | 9870 | ORPHA:438114 | RARS-related autosomal recessive hypomyelinating leukodystrophy | HP:0040282 - Frequent | | | | | |
HP:0003429 | HP:0006808 | Cerebral hypomyelination | 1 | SLC1A4 CL E G H | 6509 | 10942 | ORPHA:447997 | Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0003429 | HP:0006808 | Cerebral hypomyelination | 1 | SLC25A12 CL E G H | 8604 | 10982 | OMIM:612949 | Epileptic encephalopathy, early infantile, 39 | . | | | 44 | | |
HP:0003429 | HP:0006808 | Cerebral hypomyelination | 1 | SOX10 CL E G H | 6663 | 11190 | OMIM:611584 | Waardenburg syndrome, type 2E | . | | | 61 | | |
HP:0003429 | HP:0006808 | Cerebral hypomyelination | 1 | SPATA5 CL E G H | 166378 | 18119 | ORPHA:457351 | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome | HP:0040282 - Frequent | | | 19 | | |
HP:0003429 | HP:0006808 | Cerebral hypomyelination | 1 | STXBP1 CL E G H | 6812 | 11444 | OMIM:612164 | Epileptic encephalopathy, early infantile, 4 | . | | | 237 | | |
HP:0003429 | HP:0006808 | Cerebral hypomyelination | 1 | TBCD CL E G H | 6904 | 11581 | ORPHA:496641 | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | HP:0040282 - Frequent | | | 16 | | |
HP:0003429 | HP:0006808 | Cerebral hypomyelination | 1 | TMTC3 CL E G H | 160418 | 26899 | OMIM:617255 | Lissencephaly 8 | | | | 5 | | |
HP:0003429 | HP:0006808 | Cerebral hypomyelination | 1 | TUBB4A CL E G H | 10382 | 20774 | OMIM:612438 | Leukodystrophy, hypomyelinating, 6 | . | | | 66 | | |
HP:0003429 | HP:0006808 | Cerebral hypomyelination | 1 | VPS11 CL E G H | 55823 | 14583 | OMIM:616683 | Leukodystrophy, hypomyelinating, 12 | | | | 1 | | |
HP:0003429 | HP:0006808 | Cerebral hypomyelination | 1 | WDR26 CL E G H | 80232 | 21208 | ORPHA:513456 | Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome | HP:0040283 - Occasional | | | 8 | | |