Human Phenotype Ontology 
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Abnormal myelination (HP:0012447)help
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Abnormal CNS myelination (HP:0011400)help
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Delayed myelination (HP:0012448)help
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Delayed CNS myelination (HP:0002188)help
Term ID: 2188
Name: Delayed CNS myelination
Synonym: Delay in central nervous system myelination
Definition: Delayed myelination in the central nervous system.
Comments:
Reference: HP:0002188
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandDelayed peripheral myelination (HP:0011401) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002188HP:0002188Delayed CNS myelination0AARS1 CL E G H1620OMIM:619691TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0002188HP:0002188Delayed CNS myelination0ACTL6B CL E G H51412160OMIM:618468DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE762
HP:0002188HP:0002188Delayed CNS myelination0ACY1 CL E G H95177OMIM:609924Aminoacylase 1 deficiency.13
HP:0002188HP:0002188Delayed CNS myelination0ADARB1 CL E G H104226OMIM:618862NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS1
HP:0002188HP:0002188Delayed CNS myelination0ADAT3 CL E G H11317925151OMIM:615286Mental retardation, autosomal recessive 369
HP:0002188HP:0002188Delayed CNS myelination0AHDC1 CL E G H2724525230OMIM:615829Xia-Gibbs syndrome36
HP:0002188HP:0002188Delayed CNS myelination0AIFM1 CL E G H91318768OMIM:300232Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration.60
HP:0002188HP:0002188Delayed CNS myelination0ALDH5A1 CL E G H7915408OMIM:271980Succinic semialdehyde dehydrogenase deficiency108
HP:0002188HP:0002188Delayed CNS myelination0ALDH7A1 CL E G H501877ORPHA:3006Pyridoxine-dependent epilepsyHP:0040283 - Occasional227
HP:0002188HP:0002188Delayed CNS myelination0ALG13 CL E G H7986830881OMIM:300884Epileptic encephalopathy, early infantile, 3696
HP:0002188HP:0002188Delayed CNS myelination0ALG14 CL E G H19985728287OMIM:619031INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES; IDDEBF12
HP:0002188HP:0002188Delayed CNS myelination0ALG14 CL E G H19985728287OMIM:619036MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA12
HP:0002188HP:0002188Delayed CNS myelination0ALG2 CL E G H8536523159OMIM:607906Congenital disorder of glycosylation, type Ii46
HP:0002188HP:0002188Delayed CNS myelination0ALG9 CL E G H7979615672OMIM:608776Congenital disorder of glycosylation, type Il93
HP:0002188HP:0002188Delayed CNS myelination0AP3D1 CL E G H8943568OMIM:617050HERMANSKY-PUDLAK SYNDROME 10; HPS101
HP:0002188HP:0002188Delayed CNS myelination0ARF1 CL E G H375652OMIM:618185Periventricular nodular heterotopia 8
HP:0002188HP:0002188Delayed CNS myelination0ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1219
HP:0002188HP:0002188Delayed CNS myelination0ARX CL E G H17030218060OMIM:308350Developmental and epileptic encephalopathy 1166
HP:0002188HP:0002188Delayed CNS myelination0ASH1L CL E G H5587019088OMIM:617796Mental retardation, autosomal dominant 521
HP:0002188HP:0002188Delayed CNS myelination0ATP1A3 CL E G H478801OMIM:619606DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99150
HP:0002188HP:0002188Delayed CNS myelination0ATP6AP2 CL E G H1015918305OMIM:300423MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH36
HP:0002188HP:0002188Delayed CNS myelination0BCS1L CL E G H6171020OMIM:124000Mitochondrial complex III deficiency, nuclear type 172
HP:0002188HP:0002188Delayed CNS myelination0BMP4 CL E G H6521071OMIM:607932Microphthalmia, syndromic 638
HP:0002188HP:0002188Delayed CNS myelination0BRAT1 CL E G H22192721701OMIM:614498Rigidity and multifocal seizure syndrome, lethal neonatal20
HP:0002188HP:0002188Delayed CNS myelination0C18ORF32 CL E G H49766131690OMIM:619985
HP:0002188HP:0002188Delayed CNS myelination0CARS1 CL E G H8331493OMIM:618891MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0002188HP:0002188Delayed CNS myelination0CDC40 CL E G H5136217350OMIM:619302PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0002188HP:0002188Delayed CNS myelination0CDK19 CL E G H2309719338OMIM:618916DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87
HP:0002188HP:0002188Delayed CNS myelination0CHAMP1 CL E G H28348920311OMIM:616579Mental retardation, autosomal dominant 4016
HP:0002188HP:0002188Delayed CNS myelination0CLCN3 CL E G H11822021OMIM:619512NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA2
HP:0002188HP:0002188Delayed CNS myelination0CLCN3 CL E G H11822021OMIM:619517NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA2
HP:0002188HP:0002188Delayed CNS myelination0CLCN7 CL E G H11862025OMIM:618541Hypopigmentation, organomegaly, and delayed myelination and development102
HP:0002188HP:0002188Delayed CNS myelination0CLPB CL E G H8157030664OMIM:6198353-METHYLGLUTACONIC ACIDURIA, TYPE VIIA; MGCA7A38
HP:0002188HP:0002188Delayed CNS myelination0CLTC CL E G H12132092OMIM:617854Mental retardation, autosomal dominant 561
HP:0002188HP:0002188Delayed CNS myelination0CLTCL1 CL E G H82182093ORPHA:453510Congenital insensitivity to pain with severe intellectual disabilityHP:0040282 - Frequent6
HP:0002188HP:0002188Delayed CNS myelination0CNOT3 CL E G H48497879OMIM:618672INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0002188HP:0002188Delayed CNS myelination0COPB2 CL E G H92762232OMIM:619884
HP:0002188HP:0002188Delayed CNS myelination0COPB2 CL E G H92762232OMIM:617800Microcephaly 19, primary, autosomal recessive
HP:0002188HP:0002188Delayed CNS myelination0CTNNB1 CL E G H14992514ORPHA:404473Severe intellectual disability-progressive spastic diplegia syndromeHP:0040283 - Occasional88
HP:0002188HP:0002188Delayed CNS myelination0CUL3 CL E G H84522553OMIM:619239NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS92
HP:0002188HP:0002188Delayed CNS myelination0D2HGDH CL E G H72829428358OMIM:600721D-2-Hydroxyglutaric aciduria 1.102
HP:0002188HP:0002188Delayed CNS myelination0DDX6 CL E G H16562747OMIM:618653INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0002188HP:0002188Delayed CNS myelination0DHX37 CL E G H5764717210OMIM:618731NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC2
HP:0002188HP:0002188Delayed CNS myelination0DNM1L CL E G H100592973OMIM:614388Encephalopathy due to defective mitochondrial and peroxisomal fission 194
HP:0002188HP:0002188Delayed CNS myelination0DOHH CL E G H8347528662OMIM:620066
HP:0002188HP:0002188Delayed CNS myelination0EIF2AK2 CL E G H56109437OMIM:618877LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0002188HP:0002188Delayed CNS myelination0EXOC8 CL E G H14937124659OMIM:619076NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY; NEDMISB1
HP:0002188HP:0002188Delayed CNS myelination0EXOSC1 CL E G H5101317286OMIM:619304PONTOCEREBELLAR HYPOPLASIA, TYPE 1F; PCH1F
HP:0002188HP:0002188Delayed CNS myelination0EZH2 CL E G H21463527OMIM:277590Weaver syndrome81
HP:0002188HP:0002188Delayed CNS myelination0FANCB CL E G H21873583OMIM:300514FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB58
HP:0002188HP:0002188Delayed CNS myelination0FANCL CL E G H5512020748OMIM:614083Fanconi anemia, complementation group L53
HP:0002188HP:0002188Delayed CNS myelination0FAR1 CL E G H8418826222OMIM:616154PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD7
HP:0002188HP:0002188Delayed CNS myelination0FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0002188HP:0002188Delayed CNS myelination0FCSK CL E G H19725829500OMIM:618324Congenital disorder of glycosylation with defective fucosylation 2
HP:0002188HP:0002188Delayed CNS myelination0FOCAD CL E G H5491423377OMIM:6199913
HP:0002188HP:0002188Delayed CNS myelination0FOXP1 CL E G H270863823OMIM:613670Mental retardation with language impairment and with or without autistic features184
HP:0002188HP:0002188Delayed CNS myelination0FRMD5 CL E G H8497828214OMIM:620094
HP:0002188HP:0002188Delayed CNS myelination0FRMPD4 CL E G H975829007OMIM:300983MENTAL RETARDATION, X-LINKED 104; MRX10432
HP:0002188HP:0002188Delayed CNS myelination0GEMIN4 CL E G H5062815717OMIM:617913Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities1
HP:0002188HP:0002188Delayed CNS myelination0GLS CL E G H27444331OMIM:618339Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development
HP:0002188HP:0002188Delayed CNS myelination0GLYCTK CL E G H13215824247OMIM:220120D-GLYCERIC ACIDURIA6
HP:0002188HP:0002188Delayed CNS myelination0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0002188HP:0002188Delayed CNS myelination0GRIK2 CL E G H28984580OMIM:619580NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS32
HP:0002188HP:0002188Delayed CNS myelination0GTF2H5 CL E G H40467221157OMIM:616395Trichothiodystrophy 3, photosensitive3
HP:0002188HP:0002188Delayed CNS myelination0H4C5 CL E G H83674790OMIM:619950
HP:0002188HP:0002188Delayed CNS myelination0HS2ST1 CL E G H96535193OMIM:619194NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0002188HP:0002188Delayed CNS myelination0ITPA CL E G H37046176OMIM:616647Epileptic encephalopathy, early infantile, 358
HP:0002188HP:0002188Delayed CNS myelination0KCNC2 CL E G H37476234OMIM:619913
HP:0002188HP:0002188Delayed CNS myelination0KCNN2 CL E G H37816291OMIM:619725NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0002188HP:0002188Delayed CNS myelination0KDM1A CL E G H2302829079OMIM:616728Cleft palate, psychomotor retardation, and distinctive facial features3
HP:0002188HP:0002188Delayed CNS myelination0KIDINS220 CL E G H5749829508OMIM:617296SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO4
HP:0002188HP:0002188Delayed CNS myelination0LIPT1 CL E G H5160129569OMIM:616299Lipoyltransferase 1 deficiency21
HP:0002188HP:0002188Delayed CNS myelination0LIPT2 CL E G H38778737216OMIM:617668Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities2
HP:0002188HP:0002188Delayed CNS myelination0LMX1B CL E G H40106654ORPHA:4958189q33.3q34.11 microdeletion syndromeHP:0040283 - Occasional165
HP:0002188HP:0002188Delayed CNS myelination0MADD CL E G H85676766OMIM:619004DEEAH SYNDROME; DEEAH5
HP:0002188HP:0002188Delayed CNS myelination0MADD CL E G H85676766OMIM:619005NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH5
HP:0002188HP:0002188Delayed CNS myelination0MDH2 CL E G H41916971OMIM:617339Epileptic encephalopathy, early infantile, 514
HP:0002188HP:0002188Delayed CNS myelination0MLYCD CL E G H234177150OMIM:248360Malonyl-CoA decarboxylase deficiency80
HP:0002188HP:0002188Delayed CNS myelination0MMUT CL E G H45947526OMIM:251000Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency.
HP:0002188HP:0002188Delayed CNS myelination0MORC2 CL E G H2288023573OMIM:619090DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY; DIGFAN8
HP:0002188HP:0002188Delayed CNS myelination0NACC1 CL E G H11293920967OMIM:617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination1
HP:0002188HP:0002188Delayed CNS myelination0NARS1 CL E G H46777643OMIM:619091NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG
HP:0002188HP:0002188Delayed CNS myelination0NCDN CL E G H2315417597OMIM:619373NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS; NEDIES
HP:0002188HP:0002188Delayed CNS myelination0NEUROD2 CL E G H47617763OMIM:618374Epileptic encephalopathy, early infantile, 72
HP:0002188HP:0002188Delayed CNS myelination0NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation32
HP:0002188HP:0002188Delayed CNS myelination0NMNAT1 CL E G H6480217877OMIM:619260SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA15
HP:0002188HP:0002188Delayed CNS myelination0NRCAM CL E G H48977994OMIM:6198332
HP:0002188HP:0002188Delayed CNS myelination0NRROS CL E G H37538724613OMIM:618875SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS; SENEBAC1
HP:0002188HP:0002188Delayed CNS myelination0NUP188 CL E G H2351117859OMIM:618804SANDESTIG-STEFANOVA SYNDROME; SANDSTEF4
HP:0002188HP:0002188Delayed CNS myelination0PEX7 CL E G H51918860OMIM:215100Rhizomelic chondrodysplasia punctata, type 1.72
HP:0002188HP:0002188Delayed CNS myelination0PGAP1 CL E G H8005525712OMIM:615802MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT4220
HP:0002188HP:0002188Delayed CNS myelination0PHACTR1 CL E G H22169220990OMIM:618298DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE701
HP:0002188HP:0002188Delayed CNS myelination0PIGS CL E G H9400514937OMIM:618143GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0002188HP:0002188Delayed CNS myelination0PIGU CL E G H12886915791OMIM:618590NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0002188HP:0002188Delayed CNS myelination0PKDCC CL E G H9146125123OMIM:618821RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0002188HP:0002188Delayed CNS myelination0PLPBP CL E G H112129457ORPHA:3006Pyridoxine-dependent epilepsyHP:0040283 - Occasional6
HP:0002188HP:0002188Delayed CNS myelination0POGZ CL E G H2312618801OMIM:616364White-Sutton syndrome35
HP:0002188HP:0002188Delayed CNS myelination0POGZ CL E G H2312618801ORPHA:468678White-Sutton syndromeHP:0040284 - Very rare35
HP:0002188HP:0002188Delayed CNS myelination0POLR2A CL E G H54309187OMIM:618603NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0002188HP:0002188Delayed CNS myelination0POLR3B CL E G H5570330348OMIM:619742CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I67
HP:0002188HP:0002188Delayed CNS myelination0POU3F3 CL E G H54559216OMIM:618604SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS
HP:0002188HP:0002188Delayed CNS myelination0PPIL1 CL E G H516459260OMIM:619301PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0002188HP:0002188Delayed CNS myelination0PPP2R1A CL E G H55189302OMIM:616362Mental retardation, autosomal dominant 3613
HP:0002188HP:0002188Delayed CNS myelination0PPP3CA CL E G H55309314OMIM:617711Epileptic encephalopathy, infantile or early childhood, 12
HP:0002188HP:0002188Delayed CNS myelination0PRUNE1 CL E G H5849713420OMIM:617481Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies8
HP:0002188HP:0002188Delayed CNS myelination0PURA CL E G H58139701OMIM:616158Mental retardation, autosomal dominant 3153
HP:0002188HP:0002188Delayed CNS myelination0RAB3GAP1 CL E G H2293017063OMIM:600118Warburg micro syndrome 190
HP:0002188HP:0002188Delayed CNS myelination0RBM8A CL E G H99399905OMIM:274000Thrombocytopenia-absent radius syndrome10
HP:0002188HP:0002188Delayed CNS myelination0RERE CL E G H4739965OMIM:616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart16
HP:0002188HP:0002188Delayed CNS myelination0RNF13 CL E G H1134210057OMIM:618379DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73
HP:0002188HP:0002188Delayed CNS myelination0RNU7-1 CL E G H10014774434033OMIM:619487AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0002188HP:0002188Delayed CNS myelination0SETD1A CL E G H973929010OMIM:618832EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY; EPEDD6
HP:0002188HP:0002188Delayed CNS myelination0SHANK3 CL E G H8535814294OMIM:606232Phelan-Mcdermid syndrome53
HP:0002188HP:0002188Delayed CNS myelination0SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0002188HP:0002188Delayed CNS myelination0SLC12A5 CL E G H5746813818OMIM:616645Epileptic encephalopathy, early infantile, 348
HP:0002188HP:0002188Delayed CNS myelination0SLC16A2 CL E G H656710923OMIM:300523Allan-Herndon-Dudley syndrome.57
HP:0002188HP:0002188Delayed CNS myelination0SLC1A2 CL E G H650610940OMIM:617105Epileptic encephalopathy, early infantile, 413
HP:0002188HP:0002188Delayed CNS myelination0SLC1A4 CL E G H650910942OMIM:616657Spastic tetraplegia, thin corpus callosum, and progressive microcephaly4
HP:0002188HP:0002188Delayed CNS myelination0SLC35A2 CL E G H735511022OMIM:300896Congenital disorder of glycosylation, type IIm27
HP:0002188HP:0002188Delayed CNS myelination0SMG9 CL E G H5600625763OMIM:616920Heart and brain malformation syndrome2
HP:0002188HP:0002188Delayed CNS myelination0SMPD1 CL E G H660911120OMIM:257200Niemann-Pick disease, type A164
HP:0002188HP:0002188Delayed CNS myelination0SPATA5 CL E G H16637818119OMIM:616577Epilepsy, hearing loss, and mental retardation syndrome19
HP:0002188HP:0002188Delayed CNS myelination0STXBP1 CL E G H681211444ORPHA:4958189q33.3q34.11 microdeletion syndromeHP:0040283 - Occasional237
HP:0002188HP:0002188Delayed CNS myelination0STXBP1 CL E G H681211444OMIM:612164Epileptic encephalopathy, early infantile, 4237
HP:0002188HP:0002188Delayed CNS myelination0TAF13 CL E G H688411546OMIM:617432Mental retardation, autosomal recessive 602
HP:0002188HP:0002188Delayed CNS myelination0TAF2 CL E G H687311536OMIM:615599Mental retardation, autosomal recessive 407
HP:0002188HP:0002188Delayed CNS myelination0TBC1D24 CL E G H5746529203ORPHA:352596Progressive myoclonic epilepsy with dystoniaHP:0040282 - Frequent271
HP:0002188HP:0002188Delayed CNS myelination0TGFB1 CL E G H704011766OMIM:618213INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE13
HP:0002188HP:0002188Delayed CNS myelination0TIMM22 CL E G H2992817317OMIM:618851COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43; COXPD43
HP:0002188HP:0002188Delayed CNS myelination0TKFC CL E G H2600724552OMIM:618805TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0002188HP:0002188Delayed CNS myelination0TMEM106B CL E G H5466422407OMIM:617964Leukodystrophy, hypomyelinating, 16
HP:0002188HP:0002188Delayed CNS myelination0TMEM147 CL E G H1043030414OMIM:620075
HP:0002188HP:0002188Delayed CNS myelination0TMEM240 CL E G H33945325186OMIM:607454Spinocerebellar ataxia 219
HP:0002188HP:0002188Delayed CNS myelination0TMEM63A CL E G H972529118OMIM:618688LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0002188HP:0002188Delayed CNS myelination0TNPO2 CL E G H3000019998OMIM:619556INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0002188HP:0002188Delayed CNS myelination0TNR CL E G H714311953OMIM:619653NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO7
HP:0002188HP:0002188Delayed CNS myelination0TRAPPC2L CL E G H5169330887OMIM:618331Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis
HP:0002188HP:0002188Delayed CNS myelination0TRIM8 CL E G H8160315579OMIM:619428FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS1
HP:0002188HP:0002188Delayed CNS myelination0TRMT5 CL E G H5757023141OMIM:616539Combined oxidative phosphorylation deficiency 264
HP:0002188HP:0002188Delayed CNS myelination0TRNT1 CL E G H5109517341OMIM:616084SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD28
HP:0002188HP:0002188Delayed CNS myelination0TRRAP CL E G H829512347OMIM:618454Developmental delay with or without dysmorphic facies and autism2
HP:0002188HP:0002188Delayed CNS myelination0TXN2 CL E G H2582817772OMIM:616811Combined oxidative phosphorylation deficiency 291
HP:0002188HP:0002188Delayed CNS myelination0UGDH CL E G H735812525OMIM:618792DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0002188HP:0002188Delayed CNS myelination0UPB1 CL E G H5173316297OMIM:613161Beta-Ureidopropionase deficiency.44
HP:0002188HP:0002188Delayed CNS myelination0VPS11 CL E G H5582314583ORPHA:466934VPS11-related autosomal recessive hypomyelinating leukodystrophyHP:0040282 - Frequent1
HP:0002188HP:0002188Delayed CNS myelination0VPS33A CL E G H6508218179OMIM:617303Mucopolysaccharidosis-Plus syndrome1
HP:0002188HP:0002188Delayed CNS myelination0WARS2 CL E G H1035212730OMIM:617710Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures2
HP:0002188HP:0002188Delayed CNS myelination0YRDC CL E G H7969328905OMIM:619609GALLOWAY-MOWAT SYNDROME 10; GAMOS10
HP:0002188HP:0002188Delayed CNS myelination0YY1 CL E G H752812856OMIM:617557Gabriele-De vries syndrome7
HP:0002188HP:0002188Delayed CNS myelination0ZC4H2 CL E G H5590624931OMIM:301041WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR19
HP:0002188HP:0002188Delayed CNS myelination0ZMIZ1 CL E G H5717816493OMIM:618659NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0002188HP:0002188Delayed CNS myelination0ZNF148 CL E G H770712933OMIM:617260Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies4
HP:0002188HP:0002188Delayed CNS myelination0ZNF335 CL E G H6392515807OMIM:615095Microcephaly 10, primary, autosomal recessive60
HP:0002188HP:0002188Delayed CNS myelination0ZNF526 CL E G H11611529415OMIM:61987724


Genes (148) :AARS1 ACTL6B ACY1 ADARB1 ADAT3 AHDC1 AIFM1 ALDH5A1 ALDH7A1 ALG13 ALG14 ALG2 ALG9 AP3D1 ARF1 ARID1B ARX ASH1L ATP1A3 ATP6AP2 BCS1L BMP4 BRAT1 C18ORF32 CARS1 CDC40 CDK19 CHAMP1 CLCN3 CLCN7 CLPB CLTC CLTCL1 CNOT3 COPB2 CTNNB1 CUL3 D2HGDH DDX6 DHX37 DNM1L DOHH EIF2AK2 EXOC8 EXOSC1 EZH2 FANCB FANCL FAR1 FBXO28 FCSK FOCAD FOXP1 FRMD5 FRMPD4 GEMIN4 GLS GLYCTK GNB2 GRIK2 GTF2H5 H4C5 HS2ST1 ITPA KCNC2 KCNN2 KDM1A KIDINS220 LIPT1 LIPT2 LMX1B MADD MDH2 MLYCD MMUT MORC2 NACC1 NARS1 NCDN NEUROD2 NGLY1 NMNAT1 NRCAM NRROS NUP188 PEX7 PGAP1 PHACTR1 PIGS PIGU PKDCC PLPBP POGZ POLR2A POLR3B POU3F3 PPIL1 PPP2R1A PPP3CA PRUNE1 PURA RAB3GAP1 RBM8A RERE RNF13 RNU7-1 SETD1A SHANK3 SIN3A SLC12A5 SLC16A2 SLC1A2 SLC1A4 SLC35A2 SMG9 SMPD1 SPATA5 STXBP1 TAF13 TAF2 TBC1D24 TGFB1 TIMM22 TKFC TMEM106B TMEM147 TMEM240 TMEM63A TNPO2 TNR TRAPPC2L TRIM8 TRMT5 TRNT1 TRRAP TXN2 UGDH UPB1 VPS11 VPS33A WARS2 YRDC YY1 ZC4H2 ZMIZ1 ZNF148 ZNF335 ZNF526

Diseases (152) :OMIM:619691 OMIM:618468 OMIM:609924 OMIM:618862 OMIM:615286 OMIM:615829 OMIM:300232 OMIM:271980 ORPHA:3006 OMIM:300884 OMIM:619031 OMIM:619036 OMIM:607906 OMIM:608776 OMIM:617050 OMIM:618185 OMIM:135900 OMIM:308350 OMIM:617796 OMIM:619606 OMIM:300423 OMIM:124000 OMIM:607932 OMIM:614498 OMIM:619985 OMIM:618891 OMIM:619302 OMIM:618916 OMIM:616579 OMIM:619512 OMIM:619517 OMIM:618541 OMIM:619835 OMIM:617854 ORPHA:453510 OMIM:618672 OMIM:619884 OMIM:617800 ORPHA:404473 OMIM:619239 OMIM:600721 OMIM:618653 OMIM:618731 OMIM:614388 OMIM:620066 OMIM:618877 OMIM:619076 OMIM:619304 OMIM:277590 OMIM:300514 OMIM:614083 OMIM:616154 OMIM:619777 OMIM:618324 OMIM:619991 OMIM:613670 OMIM:620094 OMIM:300983 OMIM:617913 OMIM:618339 OMIM:220120 OMIM:619503 OMIM:619580 OMIM:616395 OMIM:619950 OMIM:619194 OMIM:616647 OMIM:619913 OMIM:619725 OMIM:616728 OMIM:617296 OMIM:616299 OMIM:617668 ORPHA:495818 OMIM:619004 OMIM:619005 OMIM:617339 OMIM:248360 OMIM:251000 OMIM:619090 OMIM:617393 OMIM:619091 OMIM:619373 OMIM:618374 OMIM:615273 OMIM:619260 OMIM:619833 OMIM:618875 OMIM:618804 OMIM:215100 OMIM:615802 OMIM:618298 OMIM:618143 OMIM:618590 OMIM:618821 OMIM:616364 ORPHA:468678 OMIM:618603 OMIM:619742 OMIM:618604 OMIM:619301 OMIM:616362 OMIM:617711 OMIM:617481 OMIM:616158 OMIM:600118 OMIM:274000 OMIM:616975 OMIM:618379 OMIM:619487 OMIM:618832 OMIM:606232 OMIM:613406 OMIM:616645 OMIM:300523 OMIM:617105 OMIM:616657 OMIM:300896 OMIM:616920 OMIM:257200 OMIM:616577 OMIM:612164 OMIM:617432 OMIM:615599 ORPHA:352596 OMIM:618213 OMIM:618851 OMIM:618805 OMIM:617964 OMIM:620075 OMIM:607454 OMIM:618688 OMIM:619556 OMIM:619653 OMIM:618331 OMIM:619428 OMIM:616539 OMIM:616084 OMIM:618454 OMIM:616811 OMIM:618792 OMIM:613161 ORPHA:466934 OMIM:617303 OMIM:617710 OMIM:619609 OMIM:617557 OMIM:301041 OMIM:618659 OMIM:617260 OMIM:615095 OMIM:619877
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.