Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012447	HP:0012447	Abnormal myelination	0	AARS1 CL E G H	16	20	OMIM:616339	Epileptic encephalopathy, early infantile, 29
HP:0012447	HP:0012447	Abnormal myelination	0	AARS1 CL E G H	16	20	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0012447	HP:0012447	Abnormal myelination	0	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0012447	HP:0012447	Abnormal myelination	0	ABAT CL E G H	18	23	OMIM:613163	GABA-transaminase deficiency			120
HP:0012447	HP:0012447	Abnormal myelination	0	ABCA1 CL E G H	19	29	OMIM:205400	Tangier disease			191
HP:0012447	HP:0012447	Abnormal myelination	0	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy			135
HP:0012447	HP:0012447	Abnormal myelination	0	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy			135
HP:0012447	HP:0012447	Abnormal myelination	0	ABHD12 CL E G H	26090	15868	OMIM:612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract			50
HP:0012447	HP:0012447	Abnormal myelination	0	ACBD5 CL E G H	91452	23338	OMIM:618863	RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD			1
HP:0012447	HP:0012447	Abnormal myelination	0	ACER3 CL E G H	55331	16066	OMIM:617762	Leukodystrophy, progressive, early childhood-onset
HP:0012447	HP:0012447	Abnormal myelination	0	ACO2 CL E G H	50	118	OMIM:614559	INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD			60
HP:0012447	HP:0012447	Abnormal myelination	0	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency			120
HP:0012447	HP:0012447	Abnormal myelination	0	ACTL6B CL E G H	51412	160	OMIM:618468	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE76			2
HP:0012447	HP:0012447	Abnormal myelination	0	ACTL6B CL E G H	51412	160	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		2
HP:0012447	HP:0012447	Abnormal myelination	0	ACY1 CL E G H	95	177	OMIM:609924	Aminoacylase 1 deficiency			13
HP:0012447	HP:0012447	Abnormal myelination	0	ADAMTSL1 CL E G H	92949	14632	ORPHA:521445	Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
HP:0012447	HP:0012447	Abnormal myelination	0	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome			116
HP:0012447	HP:0012447	Abnormal myelination	0	ADAR CL E G H	103	225	OMIM:615010	Aicardi-Goutieres syndrome 6			116
HP:0012447	HP:0012447	Abnormal myelination	0	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS			1
HP:0012447	HP:0012447	Abnormal myelination	0	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome			9
HP:0012447	HP:0012447	Abnormal myelination	0	ADAT3 CL E G H	113179	25151	OMIM:615286	Mental retardation, autosomal recessive 36			9
HP:0012447	HP:0012447	Abnormal myelination	0	ADGRG1 CL E G H	9289	4512	ORPHA:101070	Bilateral frontoparietal polymicrogyria			88
HP:0012447	HP:0012447	Abnormal myelination	0	ADGRG1 CL E G H	9289	4512	OMIM:606854	Polymicrogyria, bilateral frontoparietal			88
HP:0012447	HP:0012447	Abnormal myelination	0	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency			118
HP:0012447	HP:0012447	Abnormal myelination	0	AFG3L2 CL E G H	10939	315	ORPHA:313772	Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome			86
HP:0012447	HP:0012447	Abnormal myelination	0	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency			31
HP:0012447	HP:0012447	Abnormal myelination	0	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome			36
HP:0012447	HP:0012447	Abnormal myelination	0	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome			36
HP:0012447	HP:0012447	Abnormal myelination	0	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration			60
HP:0012447	HP:0012447	Abnormal myelination	0	AIMP1 CL E G H	9255	10648	OMIM:260600	Leukodystrophy, hypomyelinating, 3			4
HP:0012447	HP:0012447	Abnormal myelination	0	AIMP2 CL E G H	7965	20609	OMIM:618006	Leukodystrophy, hypomyelinating, 17			1
HP:0012447	HP:0012447	Abnormal myelination	0	ALDH3A2 CL E G H	224	403	OMIM:270200	Sjogren-Larsson syndrome			87
HP:0012447	HP:0012447	Abnormal myelination	0	ALDH5A1 CL E G H	7915	408	OMIM:271980	Succinic semialdehyde dehydrogenase deficiency			108
HP:0012447	HP:0012447	Abnormal myelination	0	ALDH6A1 CL E G H	4329	7179	OMIM:614105	Methylmalonate semialdehyde dehydrogenase deficiency			35
HP:0012447	HP:0012447	Abnormal myelination	0	ALDH7A1 CL E G H	501	877	ORPHA:3006	Pyridoxine-dependent epilepsy			227
HP:0012447	HP:0012447	Abnormal myelination	0	ALG11 CL E G H	440138	32456	ORPHA:280071	ALG11-CDG			41
HP:0012447	HP:0012447	Abnormal myelination	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG			68
HP:0012447	HP:0012447	Abnormal myelination	0	ALG13 CL E G H	79868	30881	OMIM:300884	Epileptic encephalopathy, early infantile, 36			96
HP:0012447	HP:0012447	Abnormal myelination	0	ALG14 CL E G H	199857	28287	OMIM:619031	INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES; IDDEBF			12
HP:0012447	HP:0012447	Abnormal myelination	0	ALG14 CL E G H	199857	28287	OMIM:619036	MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA			12
HP:0012447	HP:0012447	Abnormal myelination	0	ALG2 CL E G H	85365	23159	ORPHA:79326	ALG2-CDG			46
HP:0012447	HP:0012447	Abnormal myelination	0	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii			46
HP:0012447	HP:0012447	Abnormal myelination	0	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG			46
HP:0012447	HP:0012447	Abnormal myelination	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG			93
HP:0012447	HP:0012447	Abnormal myelination	0	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il			93
HP:0012447	HP:0012447	Abnormal myelination	0	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			114
HP:0012447	HP:0012447	Abnormal myelination	0	AP3B2 CL E G H	8120	567	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		7
HP:0012447	HP:0012447	Abnormal myelination	0	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10			1
HP:0012447	HP:0012447	Abnormal myelination	0	APTX CL E G H	54840	15984	OMIM:208920	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia			61
HP:0012447	HP:0012447	Abnormal myelination	0	ARF1 CL E G H	375	652	OMIM:618185	Periventricular nodular heterotopia 8
HP:0012447	HP:0012447	Abnormal myelination	0	ARHGEF10 CL E G H	9639	14103	OMIM:608236	Slowed nerve conduction velocity, autosomal dominant			12
HP:0012447	HP:0012447	Abnormal myelination	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0012447	HP:0012447	Abnormal myelination	0	ARNT2 CL E G H	9915	16876	OMIM:615926	Webb-Dattani syndrome
HP:0012447	HP:0012447	Abnormal myelination	0	ARSA CL E G H	410	713	OMIM:250100	Metachromatic leukodystrophy			253
HP:0012447	HP:0012447	Abnormal myelination	0	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form			253
HP:0012447	HP:0012447	Abnormal myelination	0	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form			253
HP:0012447	HP:0012447	Abnormal myelination	0	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form			253
HP:0012447	HP:0012447	Abnormal myelination	0	ARV1 CL E G H	64801	29561	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		3
HP:0012447	HP:0012447	Abnormal myelination	0	ARX CL E G H	170302	18060	OMIM:308350	Developmental and epileptic encephalopathy 1			166
HP:0012447	HP:0012447	Abnormal myelination	0	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy			166
HP:0012447	HP:0012447	Abnormal myelination	0	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0012447	HP:0012447	Abnormal myelination	0	ASNS CL E G H	440	753	OMIM:615574	Asparagine synthetase deficiency			17
HP:0012447	HP:0012447	Abnormal myelination	0	ASPA CL E G H	443	756	OMIM:271900	Canavan disease			48
HP:0012447	HP:0012447	Abnormal myelination	0	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome			145
HP:0012447	HP:0012447	Abnormal myelination	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome			145
HP:0012447	HP:0012447	Abnormal myelination	0	ATP11A CL E G H	23250	13552	OMIM:619851	LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0012447	HP:0012447	Abnormal myelination	0	ATP1A2 CL E G H	477	800	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		239
HP:0012447	HP:0012447	Abnormal myelination	0	ATP1A3 CL E G H	478	801	OMIM:619606	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99			150
HP:0012447	HP:0012447	Abnormal myelination	0	ATP1A3 CL E G H	478	801	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		150
HP:0012447	HP:0012447	Abnormal myelination	0	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012447	HP:0012447	Abnormal myelination	0	ATP6AP2 CL E G H	10159	18305	OMIM:300423	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH			36
HP:0012447	HP:0012447	Abnormal myelination	0	ATP6V1A CL E G H	523	851	OMIM:618012	Epileptic encephalopathy, infantile or early childhood, 3			3
HP:0012447	HP:0012447	Abnormal myelination	0	ATP6V1A CL E G H	523	851	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		3
HP:0012447	HP:0012447	Abnormal myelination	0	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease			315
HP:0012447	HP:0012447	Abnormal myelination	0	ATXN2 CL E G H	6311	10555	ORPHA:98756	Spinocerebellar ataxia type 2			11
HP:0012447	HP:0012447	Abnormal myelination	0	BAG3 CL E G H	9531	939	OMIM:612954	Myopathy, myofibrillar, 6			204
HP:0012447	HP:0012447	Abnormal myelination	0	BCAP31 CL E G H	10134	16695	OMIM:300475	Deafness, dystonia, and cerebral hypomyelination			8
HP:0012447	HP:0012447	Abnormal myelination	0	BCAP31 CL E G H	10134	16695	ORPHA:369939	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome			8
HP:0012447	HP:0012447	Abnormal myelination	0	BCAS3 CL E G H	54828	14347	OMIM:619641	HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS			2
HP:0012447	HP:0012447	Abnormal myelination	0	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1			72
HP:0012447	HP:0012447	Abnormal myelination	0	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6			38
HP:0012447	HP:0012447	Abnormal myelination	0	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia			14
HP:0012447	HP:0012447	Abnormal myelination	0	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal			20
HP:0012447	HP:0012447	Abnormal myelination	0	BRPF1 CL E G H	7862	14255	OMIM:617333	Intellectual developmental disorder with dysmorphic facies and ptosis	HP:0040283 - Occasional		10
HP:0012447	HP:0012447	Abnormal myelination	0	C18ORF32 CL E G H	497661	31690	OMIM:619985
HP:0012447	HP:0012447	Abnormal myelination	0	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14	HP:0040282 - Frequent		27
HP:0012447	HP:0012447	Abnormal myelination	0	C2ORF69 CL E G H	205327	26799	OMIM:619423	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53
HP:0012447	HP:0012447	Abnormal myelination	0	CACNA1A CL E G H	773	1388	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		449
HP:0012447	HP:0012447	Abnormal myelination	0	CACNA1B CL E G H	774	1389	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		5
HP:0012447	HP:0012447	Abnormal myelination	0	CACNA2D1 CL E G H	781	1399	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		59
HP:0012447	HP:0012447	Abnormal myelination	0	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0012447	HP:0012447	Abnormal myelination	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0012447	HP:0012447	Abnormal myelination	0	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy			118
HP:0012447	HP:0012447	Abnormal myelination	0	CDC40 CL E G H	51362	17350	OMIM:619302	PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0012447	HP:0012447	Abnormal myelination	0	CDK19 CL E G H	23097	19338	OMIM:618916	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87
HP:0012447	HP:0012447	Abnormal myelination	0	CDK19 CL E G H	23097	19338	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0012447	HP:0012447	Abnormal myelination	0	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy			405
HP:0012447	HP:0012447	Abnormal myelination	0	CELF2 CL E G H	10659	2550	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0012447	HP:0012447	Abnormal myelination	0	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40			16
HP:0012447	HP:0012447	Abnormal myelination	0	CHKA CL E G H	1119	1937	OMIM:620023
HP:0012447	HP:0012447	Abnormal myelination	0	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0012447	HP:0012447	Abnormal myelination	0	CLCN3 CL E G H	1182	2021	OMIM:619517	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA			2
HP:0012447	HP:0012447	Abnormal myelination	0	CLCN4 CL E G H	1183	2022	ORPHA:485350	CLCN4-related X-linked intellectual disability syndrome			45
HP:0012447	HP:0012447	Abnormal myelination	0	CLCN7 CL E G H	1186	2025	OMIM:618541	Hypopigmentation, organomegaly, and delayed myelination and development			102
HP:0012447	HP:0012447	Abnormal myelination	0	CLDN11 CL E G H	5010	8514	OMIM:619328	Leukodystrophy, hypomyelinating, 22
HP:0012447	HP:0012447	Abnormal myelination	0	CLP1 CL E G H	10978	16999	OMIM:615803	Pontocerebellar hypoplasia, type 10			7
HP:0012447	HP:0012447	Abnormal myelination	0	CLPB CL E G H	81570	30664	OMIM:619835	3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA; MGCA7A			38
HP:0012447	HP:0012447	Abnormal myelination	0	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56			1
HP:0012447	HP:0012447	Abnormal myelination	0	CLTC CL E G H	1213	2092	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		1
HP:0012447	HP:0012447	Abnormal myelination	0	CLTCL1 CL E G H	8218	2093	ORPHA:453510	Congenital insensitivity to pain with severe intellectual disability			6
HP:0012447	HP:0012447	Abnormal myelination	0	CNKSR2 CL E G H	22866	19701	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		18
HP:0012447	HP:0012447	Abnormal myelination	0	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0012447	HP:0012447	Abnormal myelination	0	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3			9
HP:0012447	HP:0012447	Abnormal myelination	0	COA8 CL E G H	84334	20492	OMIM:619061	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17; MC4DN17
HP:0012447	HP:0012447	Abnormal myelination	0	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG			79
HP:0012447	HP:0012447	Abnormal myelination	0	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe			64
HP:0012447	HP:0012447	Abnormal myelination	0	COPB2 CL E G H	9276	2232	OMIM:619884
HP:0012447	HP:0012447	Abnormal myelination	0	COPB2 CL E G H	9276	2232	OMIM:617800	Microcephaly 19, primary, autosomal recessive
HP:0012447	HP:0012447	Abnormal myelination	0	COQ7 CL E G H	10229	2244	OMIM:616733	Coenzyme Q10 deficiency, primary, 8			1
HP:0012447	HP:0012447	Abnormal myelination	0	COX1 CL E G H	4512	7419	ORPHA:550	MELAS
HP:0012447	HP:0012447	Abnormal myelination	0	COX14 CL E G H	84987	28216	OMIM:619053	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10; MC4DN10			4
HP:0012447	HP:0012447	Abnormal myelination	0	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy			104
HP:0012447	HP:0012447	Abnormal myelination	0	COX2 CL E G H	4513	7421	ORPHA:550	MELAS
HP:0012447	HP:0012447	Abnormal myelination	0	COX3 CL E G H	4514	7422	ORPHA:550	MELAS
HP:0012447	HP:0012447	Abnormal myelination	0	COX6A1 CL E G H	1337	2277	OMIM:616039	Charcot-Marie-Tooth disease, recessive intermediate D			4
HP:0012447	HP:0012447	Abnormal myelination	0	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7			10
HP:0012447	HP:0012447	Abnormal myelination	0	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2			6
HP:0012447	HP:0012447	Abnormal myelination	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations			291
HP:0012447	HP:0012447	Abnormal myelination	0	CSF1R CL E G H	1436	2433	OMIM:221820	Leukoencephalopathy, diffuse hereditary, with spheroids			149
HP:0012447	HP:0012447	Abnormal myelination	0	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts			160
HP:0012447	HP:0012447	Abnormal myelination	0	CTDP1 CL E G H	9150	2498	OMIM:604168	Congenital cataracts, facial dysmorphism, and neuropathy			17
HP:0012447	HP:0012447	Abnormal myelination	0	CTNNB1 CL E G H	1499	2514	ORPHA:404473	Severe intellectual disability-progressive spastic diplegia syndrome			88
HP:0012447	HP:0012447	Abnormal myelination	0	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis			39
HP:0012447	HP:0012447	Abnormal myelination	0	CUL3 CL E G H	8452	2553	OMIM:619239	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS			92
HP:0012447	HP:0012447	Abnormal myelination	0	CYB5A CL E G H	1528	2570	ORPHA:621	Hereditary methemoglobinemia			2
HP:0012447	HP:0012447	Abnormal myelination	0	CYB5R3 CL E G H	1727	2873	ORPHA:621	Hereditary methemoglobinemia			24
HP:0012447	HP:0012447	Abnormal myelination	0	CYFIP2 CL E G H	26999	13760	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		1
HP:0012447	HP:0012447	Abnormal myelination	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis			114
HP:0012447	HP:0012447	Abnormal myelination	0	D2HGDH CL E G H	728294	28358	OMIM:600721	D-2-Hydroxyglutaric aciduria 1			102
HP:0012447	HP:0012447	Abnormal myelination	0	DAG1 CL E G H	1605	2666	ORPHA:370997	Muscle-eye-brain disease with bilateral multicystic leucodystrophy			108
HP:0012447	HP:0012447	Abnormal myelination	0	DAG1 CL E G H	1605	2666	OMIM:616538	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9			108
HP:0012447	HP:0012447	Abnormal myelination	0	DALRD3 CL E G H	55152	25536	OMIM:618910	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86; DEE86
HP:0012447	HP:0012447	Abnormal myelination	0	DALRD3 CL E G H	55152	25536	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0012447	HP:0012447	Abnormal myelination	0	DARS1 CL E G H	1615	2678	OMIM:615281	HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0012447	HP:0012447	Abnormal myelination	0	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome			60
HP:0012447	HP:0012447	Abnormal myelination	0	DCAF8 CL E G H	50717	24891	OMIM:610100	Giant axonal neuropathy, autosomal dominant			2
HP:0012447	HP:0012447	Abnormal myelination	0	DCX CL E G H	1641	2714	ORPHA:2148	Lissencephaly type 1 due to doublecortin gene mutation			145
HP:0012447	HP:0012447	Abnormal myelination	0	DDOST CL E G H	1650	2728	ORPHA:300536	DDOST-CDG			62
HP:0012447	HP:0012447	Abnormal myelination	0	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0012447	HP:0012447	Abnormal myelination	0	DEGS1 CL E G H	8560	13709	OMIM:618404	Leukodystrophy, hypomyelinating, 18
HP:0012447	HP:0012447	Abnormal myelination	0	DHDDS CL E G H	79947	20603	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		47
HP:0012447	HP:0012447	Abnormal myelination	0	DHFR CL E G H	1719	2861	OMIM:613839	Megaloblastic anemia due to dihydrofolate reductase deficiency			7
HP:0012447	HP:0012447	Abnormal myelination	0	DHH CL E G H	50846	2865	OMIM:607080	46,XY GONADAL DYSGENESIS, PARTIAL, WITH MINIFASCICULAR NEUROPATHY			21
HP:0012447	HP:0012447	Abnormal myelination	0	DHH CL E G H	50846	2865	ORPHA:168563	46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome			21
HP:0012447	HP:0012447	Abnormal myelination	0	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0012447	HP:0012447	Abnormal myelination	0	DHX30 CL E G H	22907	16716	OMIM:617804	Neurodevelopmental disorder with severe motor impairment and absent language			4
HP:0012447	HP:0012447	Abnormal myelination	0	DHX37 CL E G H	57647	17210	OMIM:618731	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC			2
HP:0012447	HP:0012447	Abnormal myelination	0	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy			3
HP:0012447	HP:0012447	Abnormal myelination	0	DMXL2 CL E G H	23312	2938	ORPHA:453533	Polyendocrine-polyneuropathy syndrome			3
HP:0012447	HP:0012447	Abnormal myelination	0	DNAJC3 CL E G H	5611	9439	ORPHA:445062	Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome			3
HP:0012447	HP:0012447	Abnormal myelination	0	DNM1 CL E G H	1759	2972	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		72
HP:0012447	HP:0012447	Abnormal myelination	0	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1			94
HP:0012447	HP:0012447	Abnormal myelination	0	DNM2 CL E G H	1785	2974	OMIM:606482	Charcot-Marie-Tooth disease, dominant intermediate B			167
HP:0012447	HP:0012447	Abnormal myelination	0	DNMT1 CL E G H	1786	2976	OMIM:614116	Neuropathy, hereditary sensory, type IE			145
HP:0012447	HP:0012447	Abnormal myelination	0	DOHH CL E G H	83475	28662	OMIM:620066
HP:0012447	HP:0012447	Abnormal myelination	0	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG			38
HP:0012447	HP:0012447	Abnormal myelination	0	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG			27
HP:0012447	HP:0012447	Abnormal myelination	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion			134
HP:0012447	HP:0012447	Abnormal myelination	0	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy			33
HP:0012447	HP:0012447	Abnormal myelination	0	EDNRB CL E G H	1910	3180	OMIM:277580	Waardenburg-Shah syndrome			55
HP:0012447	HP:0012447	Abnormal myelination	0	EEF1A2 CL E G H	1917	3192	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		60
HP:0012447	HP:0012447	Abnormal myelination	0	EGR2 CL E G H	1959	3239	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			58
HP:0012447	HP:0012447	Abnormal myelination	0	EGR2 CL E G H	1959	3239	OMIM:605253	Neuropathy, congenital hypomyelinating, 1, autosomal recessive			58
HP:0012447	HP:0012447	Abnormal myelination	0	EIF2AK2 CL E G H	5610	9437	OMIM:618877	LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0012447	HP:0012447	Abnormal myelination	0	EIF2B1 CL E G H	1967	3257	OMIM:603896	Leukoencephalopathy with vanishing white matter			42
HP:0012447	HP:0012447	Abnormal myelination	0	EIF2B2 CL E G H	8892	3258	OMIM:603896	Leukoencephalopathy with vanishing white matter			24
HP:0012447	HP:0012447	Abnormal myelination	0	EIF2B3 CL E G H	8891	3259	OMIM:603896	Leukoencephalopathy with vanishing white matter			32
HP:0012447	HP:0012447	Abnormal myelination	0	EIF2B4 CL E G H	8890	3260	OMIM:603896	Leukoencephalopathy with vanishing white matter			38
HP:0012447	HP:0012447	Abnormal myelination	0	EIF2B5 CL E G H	8893	3261	OMIM:603896	Leukoencephalopathy with vanishing white matter			48
HP:0012447	HP:0012447	Abnormal myelination	0	ELOVL1 CL E G H	64834	14418	OMIM:618527	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0012447	HP:0012447	Abnormal myelination	0	ELOVL4 CL E G H	6785	14415	OMIM:614457	Ichthyosis, spastic quadriplegia, and mental retardation			62
HP:0012447	HP:0012447	Abnormal myelination	0	ELP1 CL E G H	8518	5959	OMIM:223900	Neuropathy, hereditary sensory and autonomic, type III			133
HP:0012447	HP:0012447	Abnormal myelination	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency			250
HP:0012447	HP:0012447	Abnormal myelination	0	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15
HP:0012447	HP:0012447	Abnormal myelination	0	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2			20
HP:0012447	HP:0012447	Abnormal myelination	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy			106
HP:0012447	HP:0012447	Abnormal myelination	0	ERCC2 CL E G H	2068	3434	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			106
HP:0012447	HP:0012447	Abnormal myelination	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy			54
HP:0012447	HP:0012447	Abnormal myelination	0	ERCC3 CL E G H	2071	3435	OMIM:610651	Xeroderma pigmentosum, complementation group B			54
HP:0012447	HP:0012447	Abnormal myelination	0	ERCC3 CL E G H	2071	3435	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			54
HP:0012447	HP:0012447	Abnormal myelination	0	ERCC4 CL E G H	2072	3436	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			158
HP:0012447	HP:0012447	Abnormal myelination	0	ERCC5 CL E G H	2073	3437	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			83
HP:0012447	HP:0012447	Abnormal myelination	0	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1			199
HP:0012447	HP:0012447	Abnormal myelination	0	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2			199
HP:0012447	HP:0012447	Abnormal myelination	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040281 - Very frequent		199
HP:0012447	HP:0012447	Abnormal myelination	0	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B			199
HP:0012447	HP:0012447	Abnormal myelination	0	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome			199
HP:0012447	HP:0012447	Abnormal myelination	0	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A			55
HP:0012447	HP:0012447	Abnormal myelination	0	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2			55
HP:0012447	HP:0012447	Abnormal myelination	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040281 - Very frequent		55
HP:0012447	HP:0012447	Abnormal myelination	0	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH			1
HP:0012447	HP:0012447	Abnormal myelination	0	EXOC8 CL E G H	149371	24659	OMIM:619076	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY; NEDMISB			1
HP:0012447	HP:0012447	Abnormal myelination	0	EXOSC1 CL E G H	51013	17286	OMIM:619304	PONTOCEREBELLAR HYPOPLASIA, TYPE 1F; PCH1F
HP:0012447	HP:0012447	Abnormal myelination	0	EXOSC2 CL E G H	23404	17097	OMIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies
HP:0012447	HP:0012447	Abnormal myelination	0	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0012447	HP:0012447	Abnormal myelination	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome			81
HP:0012447	HP:0012447	Abnormal myelination	0	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35			76
HP:0012447	HP:0012447	Abnormal myelination	0	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive			76
HP:0012447	HP:0012447	Abnormal myelination	0	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB			58
HP:0012447	HP:0012447	Abnormal myelination	0	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L			53
HP:0012447	HP:0012447	Abnormal myelination	0	FAR1 CL E G H	84188	26222	OMIM:616154	PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD			7
HP:0012447	HP:0012447	Abnormal myelination	0	FBP2 CL E G H	8789	3607	OMIM:619864
HP:0012447	HP:0012447	Abnormal myelination	0	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)			384
HP:0012447	HP:0012447	Abnormal myelination	0	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0012447	HP:0012447	Abnormal myelination	0	FCSK CL E G H	197258	29500	OMIM:618324	Congenital disorder of glycosylation with defective fucosylation 2	.
HP:0012447	HP:0012447	Abnormal myelination	0	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
HP:0012447	HP:0012447	Abnormal myelination	0	FGD4 CL E G H	121512	19125	OMIM:609311	Charcot-marie-tooth disease, type 4H			158
HP:0012447	HP:0012447	Abnormal myelination	0	FGF12 CL E G H	2257	3668	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		3
HP:0012447	HP:0012447	Abnormal myelination	0	FGF13 CL E G H	2258	3670	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		1
HP:0012447	HP:0012447	Abnormal myelination	0	FIG4 CL E G H	9896	16873	OMIM:611228	Charcot-Marie-Tooth disease, type 4J			111
HP:0012447	HP:0012447	Abnormal myelination	0	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome			332
HP:0012447	HP:0012447	Abnormal myelination	0	FLRT1 CL E G H	23769	3760	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome
HP:0012447	HP:0012447	Abnormal myelination	0	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa			111
HP:0012447	HP:0012447	Abnormal myelination	0	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0012447	HP:0012447	Abnormal myelination	0	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant			177
HP:0012447	HP:0012447	Abnormal myelination	0	FOXP1 CL E G H	27086	3823	OMIM:613670	Mental retardation with language impairment and with or without autistic features			184
HP:0012447	HP:0012447	Abnormal myelination	0	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency			61
HP:0012447	HP:0012447	Abnormal myelination	0	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy			61
HP:0012447	HP:0012447	Abnormal myelination	0	FOXRED1 CL E G H	55572	26927	OMIM:618241	Mitochondrial complex I deficiency, nuclear type 19			61
HP:0012447	HP:0012447	Abnormal myelination	0	FRMD5 CL E G H	84978	28214	OMIM:620094
HP:0012447	HP:0012447	Abnormal myelination	0	FRMPD4 CL E G H	9758	29007	OMIM:300983	MENTAL RETARDATION, X-LINKED 104; MRX104			32
HP:0012447	HP:0012447	Abnormal myelination	0	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			105
HP:0012447	HP:0012447	Abnormal myelination	0	FZR1 CL E G H	51343	24824	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0012447	HP:0012447	Abnormal myelination	0	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II			407
HP:0012447	HP:0012447	Abnormal myelination	0	GABBR2 CL E G H	9568	4507	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		5
HP:0012447	HP:0012447	Abnormal myelination	0	GABRA2 CL E G H	2555	4076	OMIM:618557	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 78; DEE78			4
HP:0012447	HP:0012447	Abnormal myelination	0	GABRA2 CL E G H	2555	4076	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		4
HP:0012447	HP:0012447	Abnormal myelination	0	GABRA5 CL E G H	2558	4079	OMIM:618559	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79; DEE79
HP:0012447	HP:0012447	Abnormal myelination	0	GABRA5 CL E G H	2558	4079	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0012447	HP:0012447	Abnormal myelination	0	GABRB2 CL E G H	2561	4082	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		44
HP:0012447	HP:0012447	Abnormal myelination	0	GABRG2 CL E G H	2566	4087	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		139
HP:0012447	HP:0012447	Abnormal myelination	0	GALC CL E G H	2581	4115	ORPHA:206448	Adult Krabbe disease			160
HP:0012447	HP:0012447	Abnormal myelination	0	GALC CL E G H	2581	4115	OMIM:245200	Krabbe disease			160
HP:0012447	HP:0012447	Abnormal myelination	0	GALC CL E G H	2581	4115	ORPHA:206443	Late-infantile/juvenile Krabbe disease			160
HP:0012447	HP:0012447	Abnormal myelination	0	GAN CL E G H	8139	4137	ORPHA:643	Giant axonal neuropathy			121
HP:0012447	HP:0012447	Abnormal myelination	0	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive			121
HP:0012447	HP:0012447	Abnormal myelination	0	GATAD2B CL E G H	57459	30778	ORPHA:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome			33
HP:0012447	HP:0012447	Abnormal myelination	0	GBF1 CL E G H	8729	4181	OMIM:606483	Charcot-Marie-Tooth disease, dominant intermediate A
HP:0012447	HP:0012447	Abnormal myelination	0	GCDH CL E G H	2639	4189	OMIM:231670	Glutaric acidemia I			115
HP:0012447	HP:0012447	Abnormal myelination	0	GDAP1 CL E G H	54332	15968	ORPHA:99944	Autosomal dominant Charcot-Marie-Tooth disease type 2K			108
HP:0012447	HP:0012447	Abnormal myelination	0	GDAP1 CL E G H	54332	15968	ORPHA:101097	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness			108
HP:0012447	HP:0012447	Abnormal myelination	0	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A			108
HP:0012447	HP:0012447	Abnormal myelination	0	GDAP1 CL E G H	54332	15968	OMIM:607831	Charcot-Marie-Tooth disease, axonal, type 2K			108
HP:0012447	HP:0012447	Abnormal myelination	0	GDAP1 CL E G H	54332	15968	OMIM:607706	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive			108
HP:0012447	HP:0012447	Abnormal myelination	0	GDAP1 CL E G H	54332	15968	OMIM:608340	Charcot-Marie-Tooth disease, recessive intermediate A			108
HP:0012447	HP:0012447	Abnormal myelination	0	GDAP1 CL E G H	54332	15968	OMIM:214400	Charcot-Marie-Tooth disease, type 4A			108
HP:0012447	HP:0012447	Abnormal myelination	0	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities			1
HP:0012447	HP:0012447	Abnormal myelination	0	GFAP CL E G H	2670	4235	OMIM:203450	Alexander disease			188
HP:0012447	HP:0012447	Abnormal myelination	0	GFM1 CL E G H	85476	13780	OMIM:609060	Combined oxidative phosphorylation deficiency 1			85
HP:0012447	HP:0012447	Abnormal myelination	0	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1			107
HP:0012447	HP:0012447	Abnormal myelination	0	GJC2 CL E G H	57165	17494	ORPHA:320401	Autosomal recessive spastic paraplegia type 44			37
HP:0012447	HP:0012447	Abnormal myelination	0	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2			37
HP:0012447	HP:0012447	Abnormal myelination	0	GLRX5 CL E G H	51218	20134	ORPHA:401866	Childhood-onset spasticity with hyperglycinemia			17
HP:0012447	HP:0012447	Abnormal myelination	0	GLRX5 CL E G H	51218	20134	OMIM:616859	Spasticity, childhood-onset, with hyperglycinemia			17
HP:0012447	HP:0012447	Abnormal myelination	0	GLS CL E G H	2744	4331	OMIM:618339	Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development
HP:0012447	HP:0012447	Abnormal myelination	0	GLUL CL E G H	2752	4341	OMIM:610015	GLUTAMINE DEFICIENCY, CONGENITAL			98
HP:0012447	HP:0012447	Abnormal myelination	0	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA			6
HP:0012447	HP:0012447	Abnormal myelination	0	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6			3
HP:0012447	HP:0012447	Abnormal myelination	0	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy			36
HP:0012447	HP:0012447	Abnormal myelination	0	GNAO1 CL E G H	2775	4389	OMIM:615473	Epileptic encephalopathy, early infantile, 17			36
HP:0012447	HP:0012447	Abnormal myelination	0	GNB1 CL E G H	2782	4396	ORPHA:488613	Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome			12
HP:0012447	HP:0012447	Abnormal myelination	0	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0012447	HP:0012447	Abnormal myelination	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0012447	HP:0012447	Abnormal myelination	0	GNB4 CL E G H	59345	20731	OMIM:615185	Charcot-Marie-Tooth disease, dominant intermediate F			12
HP:0012447	HP:0012447	Abnormal myelination	0	GPT2 CL E G H	84706	18062	ORPHA:477673	Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome			4
HP:0012447	HP:0012447	Abnormal myelination	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:0012447	HP:0012447	Abnormal myelination	0	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy			108
HP:0012447	HP:0012447	Abnormal myelination	0	GRIN2A CL E G H	2903	4585	ORPHA:289266	Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation	HP:0040283 - Occasional		434
HP:0012447	HP:0012447	Abnormal myelination	0	GRIN2D CL E G H	2906	4588	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		2
HP:0012447	HP:0012447	Abnormal myelination	0	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy			5
HP:0012447	HP:0012447	Abnormal myelination	0	GRM7 CL E G H	2917	4599	OMIM:618922	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA			5
HP:0012447	HP:0012447	Abnormal myelination	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy			2
HP:0012447	HP:0012447	Abnormal myelination	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy			3
HP:0012447	HP:0012447	Abnormal myelination	0	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive			3
HP:0012447	HP:0012447	Abnormal myelination	0	GTPBP3 CL E G H	84705	14880	ORPHA:444013	Combined oxidative phosphorylation defect type 23			30
HP:0012447	HP:0012447	Abnormal myelination	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0012447	HP:0012447	Abnormal myelination	0	HACE1 CL E G H	57531	21033	OMIM:616756	Spastic paraplegia and psychomotor retardation with or without seizures			10
HP:0012447	HP:0012447	Abnormal myelination	0	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome			10
HP:0012447	HP:0012447	Abnormal myelination	0	HARS1 CL E G H	3035	4816	ORPHA:488333	Autosomal dominant Charcot-Marie-Tooth disease type 2W
HP:0012447	HP:0012447	Abnormal myelination	0	HCN1 CL E G H	348980	4845	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		54
HP:0012447	HP:0012447	Abnormal myelination	0	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease			80
HP:0012447	HP:0012447	Abnormal myelination	0	HEXB CL E G H	3074	4879	ORPHA:309155	Sandhoff disease, infantile form			80
HP:0012447	HP:0012447	Abnormal myelination	0	HIKESHI CL E G H	51501	26938	OMIM:616881	Leukodystrophy, hypomyelinating, 13			3
HP:0012447	HP:0012447	Abnormal myelination	0	HK1 CL E G H	3098	4922	ORPHA:99953	Charcot-Marie-Tooth disease type 4G			11
HP:0012447	HP:0012447	Abnormal myelination	0	HK1 CL E G H	3098	4922	OMIM:605285	Neuropathy, hereditary motor and sensory, Russe type			11
HP:0012447	HP:0012447	Abnormal myelination	0	HLA-DQB1 CL E G H	3119	4944	OMIM:126200	Multiple sclerosis, susceptibility to
HP:0012447	HP:0012447	Abnormal myelination	0	HLA-DRB1 CL E G H	3123	4948	OMIM:126200	Multiple sclerosis, susceptibility to			2
HP:0012447	HP:0012447	Abnormal myelination	0	HNRNPU CL E G H	3192	5048	OMIM:617391	Epileptic encephalopathy, early infantile, 54			39
HP:0012447	HP:0012447	Abnormal myelination	0	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0012447	HP:0012447	Abnormal myelination	0	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency			98
HP:0012447	HP:0012447	Abnormal myelination	0	HSPB8 CL E G H	26353	30171	OMIM:608673	Charcot-Marie-Tooth disease, axonal, type 2L			38
HP:0012447	HP:0012447	Abnormal myelination	0	HSPD1 CL E G H	3329	5261	OMIM:612233	Leukodystrophy, hypomyelinating, 4			46
HP:0012447	HP:0012447	Abnormal myelination	0	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)			34
HP:0012447	HP:0012447	Abnormal myelination	0	HYCC1 CL E G H	84668	24587	ORPHA:85163	Hypomyelination-congenital cataract syndrome
HP:0012447	HP:0012447	Abnormal myelination	0	HYCC1 CL E G H	84668	24587	OMIM:610532	Leukodystrophy, hypomyelinating, 5
HP:0012447	HP:0012447	Abnormal myelination	0	IBA57 CL E G H	200205	27302	OMIM:615330	Multiple mitochondrial dysfunctions syndrome 3			16
HP:0012447	HP:0012447	Abnormal myelination	0	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria			15
HP:0012447	HP:0012447	Abnormal myelination	0	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome			115
HP:0012447	HP:0012447	Abnormal myelination	0	IER3IP1 CL E G H	51124	18550	OMIM:614231	Microcephaly, epilepsy, and diabetes syndrome			6
HP:0012447	HP:0012447	Abnormal myelination	0	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome			28
HP:0012447	HP:0012447	Abnormal myelination	0	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7			28
HP:0012447	HP:0012447	Abnormal myelination	0	INF2 CL E G H	64423	23791	OMIM:614455	Charcot-Marie-Tooth disease, dominant intermediate E			135
HP:0012447	HP:0012447	Abnormal myelination	0	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome			229
HP:0012447	HP:0012447	Abnormal myelination	0	INTU CL E G H	27152	29239	OMIM:617926	OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0012447	HP:0012447	Abnormal myelination	0	IREB2 CL E G H	3658	6115	OMIM:618451	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
HP:0012447	HP:0012447	Abnormal myelination	0	ISCA1 CL E G H	81689	28660	OMIM:617613	Multiple mitochondrial dysfunctions syndrome 5			1
HP:0012447	HP:0012447	Abnormal myelination	0	ISCA2 CL E G H	122961	19857	OMIM:616370	Multiple mitochondrial dysfunctions syndrome 4			7
HP:0012447	HP:0012447	Abnormal myelination	0	ITPA CL E G H	3704	6176	OMIM:616647	Epileptic encephalopathy, early infantile, 35			8
HP:0012447	HP:0012447	Abnormal myelination	0	JPH1 CL E G H	56704	14201	OMIM:607831	Charcot-Marie-Tooth disease, axonal, type 2K			1
HP:0012447	HP:0012447	Abnormal myelination	0	KARS1 CL E G H	3735	6215	OMIM:619196	DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY; DEAPLE
HP:0012447	HP:0012447	Abnormal myelination	0	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy			145
HP:0012447	HP:0012447	Abnormal myelination	0	KCNA2 CL E G H	3737	6220	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		13
HP:0012447	HP:0012447	Abnormal myelination	0	KCNB1 CL E G H	3745	6231	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		65
HP:0012447	HP:0012447	Abnormal myelination	0	KCNC2 CL E G H	3747	6234	OMIM:619913
HP:0012447	HP:0012447	Abnormal myelination	0	KCNJ10 CL E G H	3766	6256	ORPHA:199343	EAST syndrome			121
HP:0012447	HP:0012447	Abnormal myelination	0	KCNJ10 CL E G H	3766	6256	OMIM:612780	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance			121
HP:0012447	HP:0012447	Abnormal myelination	0	KCNN2 CL E G H	3781	6291	OMIM:619725	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0012447	HP:0012447	Abnormal myelination	0	KCNT1 CL E G H	57582	18865	OMIM:614959	Epileptic encephalopathy, early infantile, 14			321
HP:0012447	HP:0012447	Abnormal myelination	0	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features			3
HP:0012447	HP:0012447	Abnormal myelination	0	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome			3
HP:0012447	HP:0012447	Abnormal myelination	0	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO			4
HP:0012447	HP:0012447	Abnormal myelination	0	KIDINS220 CL E G H	57498	29508	ORPHA:521390	Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome			4
HP:0012447	HP:0012447	Abnormal myelination	0	KIF1A CL E G H	547	888	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II			276
HP:0012447	HP:0012447	Abnormal myelination	0	KIF1B CL E G H	23095	16636	OMIM:118210	Charcot-Marie-Tooth disease, axonal, type 2A1			202
HP:0012447	HP:0012447	Abnormal myelination	0	KIF1C CL E G H	10749	6317	ORPHA:397946	Autosomal spastic paraplegia type 58			38
HP:0012447	HP:0012447	Abnormal myelination	0	KIF5A CL E G H	3798	6323	OMIM:617235	Myoclonus, intractable, neonatal			93
HP:0012447	HP:0012447	Abnormal myelination	0	KLC2 CL E G H	64837	20716	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome			1
HP:0012447	HP:0012447	Abnormal myelination	0	KMT2E CL E G H	55904	18541	OMIM:618512	O'donnell-Luria-Rodan syndrome			1
HP:0012447	HP:0012447	Abnormal myelination	0	L2HGDH CL E G H	79944	20499	OMIM:236792	L-2-Hydroxyglutaric aciduria			34
HP:0012447	HP:0012447	Abnormal myelination	0	LAMB1 CL E G H	3912	6486	ORPHA:352682	Cobblestone lissencephaly without muscular or ocular involvement	HP:0040282 - Frequent		71
HP:0012447	HP:0012447	Abnormal myelination	0	LEMD2 CL E G H	221496	21244	OMIM:619322	MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS			1
HP:0012447	HP:0012447	Abnormal myelination	0	LIAS CL E G H	11019	16429	OMIM:614462	Hyperglycinemia, lactic acidosis, and seizures			31
HP:0012447	HP:0012447	Abnormal myelination	0	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			1
HP:0012447	HP:0012447	Abnormal myelination	0	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy			21
HP:0012447	HP:0012447	Abnormal myelination	0	LIPT1 CL E G H	51601	29569	OMIM:616299	Lipoyltransferase 1 deficiency			21
HP:0012447	HP:0012447	Abnormal myelination	0	LIPT2 CL E G H	387787	37216	OMIM:617668	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities			2
HP:0012447	HP:0012447	Abnormal myelination	0	LITAF CL E G H	9516	16841	OMIM:601098	Charcot-Marie-Tooth disease, demyelinating, type 1C			74
HP:0012447	HP:0012447	Abnormal myelination	0	LMNA CL E G H	4000	6636	ORPHA:98856	Charcot-Marie-Tooth disease type 2B1			645
HP:0012447	HP:0012447	Abnormal myelination	0	LMNA CL E G H	4000	6636	OMIM:605588	Charcot-Marie-Tooth disease, axonal, type 2B1			645
HP:0012447	HP:0012447	Abnormal myelination	0	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant			44
HP:0012447	HP:0012447	Abnormal myelination	0	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome			165
HP:0012447	HP:0012447	Abnormal myelination	0	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type			191
HP:0012447	HP:0012447	Abnormal myelination	0	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome
HP:0012447	HP:0012447	Abnormal myelination	0	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0012447	HP:0012447	Abnormal myelination	0	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH			5
HP:0012447	HP:0012447	Abnormal myelination	0	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis			136
HP:0012447	HP:0012447	Abnormal myelination	0	MANBA CL E G H	4126	6831	OMIM:248510	MANNOSIDOSIS, BETA A, LYSOSOMAL			55
HP:0012447	HP:0012447	Abnormal myelination	0	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0012447	HP:0012447	Abnormal myelination	0	MARS1 CL E G H	4141	6898	ORPHA:401835	Autosomal recessive spastic paraplegia type 70	HP:0040282 - Frequent
HP:0012447	HP:0012447	Abnormal myelination	0	MAT1A CL E G H	4143	6903	OMIM:250850	METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY			82
HP:0012447	HP:0012447	Abnormal myelination	0	MCOLN1 CL E G H	57192	13356	OMIM:252650	Mucolipidosis IV			78
HP:0012447	HP:0012447	Abnormal myelination	0	MDH2 CL E G H	4191	6971	OMIM:617339	Epileptic encephalopathy, early infantile, 51			4
HP:0012447	HP:0012447	Abnormal myelination	0	MED27 CL E G H	9442	2377	OMIM:619286	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0012447	HP:0012447	Abnormal myelination	0	MFN2 CL E G H	9927	16877	OMIM:609260	Charcot-marie-tooth disease, axonal, type 2A2A			203
HP:0012447	HP:0012447	Abnormal myelination	0	MLYCD CL E G H	23417	7150	OMIM:248360	Malonyl-CoA decarboxylase deficiency			80
HP:0012447	HP:0012447	Abnormal myelination	0	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC			101
HP:0012447	HP:0012447	Abnormal myelination	0	MME CL E G H	4311	7154	ORPHA:497764	Spinocerebellar ataxia type 43			18
HP:0012447	HP:0012447	Abnormal myelination	0	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
HP:0012447	HP:0012447	Abnormal myelination	0	MOCS1 CL E G H	4337	7190	OMIM:252150	Molybdenum cofactor deficiency, complementation group A			96
HP:0012447	HP:0012447	Abnormal myelination	0	MOCS2 CL E G H	4338	7193	OMIM:252160	Molybdenum cofactor deficiency, complementation group B			26
HP:0012447	HP:0012447	Abnormal myelination	0	MOGS CL E G H	7841	24862	OMIM:606056	Congenital disorder of glycosylation, type IIB			37
HP:0012447	HP:0012447	Abnormal myelination	0	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040283 - Occasional		8
HP:0012447	HP:0012447	Abnormal myelination	0	MORC2 CL E G H	22880	23573	OMIM:619090	DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY; DIGFAN			8
HP:0012447	HP:0012447	Abnormal myelination	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy			9
HP:0012447	HP:0012447	Abnormal myelination	0	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy			56
HP:0012447	HP:0012447	Abnormal myelination	0	MPZ CL E G H	4359	7225	ORPHA:101082	Charcot-Marie-Tooth disease type 1B			134
HP:0012447	HP:0012447	Abnormal myelination	0	MPZ CL E G H	4359	7225	OMIM:607677	Charcot-Marie-Tooth disease, axonal, type 2I			134
HP:0012447	HP:0012447	Abnormal myelination	0	MPZ CL E G H	4359	7225	OMIM:118200	Charcot-Marie-Tooth disease, demyelinating, type 1B			134
HP:0012447	HP:0012447	Abnormal myelination	0	MPZ CL E G H	4359	7225	OMIM:607791	Charcot-Marie-Tooth disease, dominant intermediate D			134
HP:0012447	HP:0012447	Abnormal myelination	0	MPZ CL E G H	4359	7225	OMIM:607736	Charcot-Marie-Tooth disease, type 2J			134
HP:0012447	HP:0012447	Abnormal myelination	0	MPZ CL E G H	4359	7225	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			134
HP:0012447	HP:0012447	Abnormal myelination	0	MPZ CL E G H	4359	7225	OMIM:618184	Neuropathy, congenital hypomyelinating, 2			134
HP:0012447	HP:0012447	Abnormal myelination	0	MPZ CL E G H	4359	7225	ORPHA:3115	Roussy-Lévy syndrome			134
HP:0012447	HP:0012447	Abnormal myelination	0	MPZ CL E G H	4359	7225	OMIM:180800	Roussy-Levy hereditary areflexic dystasia			134
HP:0012447	HP:0012447	Abnormal myelination	0	MRPS22 CL E G H	56945	14508	OMIM:611719	Combined oxidative phosphorylation deficiency 5			25
HP:0012447	HP:0012447	Abnormal myelination	0	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy			29
HP:0012447	HP:0012447	Abnormal myelination	0	MTHFS CL E G H	10588	7437	OMIM:618367	Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination
HP:0012447	HP:0012447	Abnormal myelination	0	MTMR2 CL E G H	8898	7450	OMIM:601382	Charcot-Marie-Tooth disease, type 4B1			88
HP:0012447	HP:0012447	Abnormal myelination	0	MTRFR CL E G H	91574	26784	ORPHA:320375	Autosomal recessive spastic paraplegia type 55
HP:0012447	HP:0012447	Abnormal myelination	0	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7
HP:0012447	HP:0012447	Abnormal myelination	0	MTRFR CL E G H	91574	26784	OMIM:615035	Spastic paraplegia 55, autosomal recessive
HP:0012447	HP:0012447	Abnormal myelination	0	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE			88
HP:0012447	HP:0012447	Abnormal myelination	0	MTTP CL E G H	4547	7467	OMIM:200100	ABETALIPOPROTEINEMIA			81
HP:0012447	HP:0012447	Abnormal myelination	0	NACC1 CL E G H	112939	20967	OMIM:617393	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination			1
HP:0012447	HP:0012447	Abnormal myelination	0	NACC1 CL E G H	112939	20967	ORPHA:500545	Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract			1
HP:0012447	HP:0012447	Abnormal myelination	0	NADK2 CL E G H	133686	26404	OMIM:616034	2,4-Dienoyl-Coa reductase deficiency			14
HP:0012447	HP:0012447	Abnormal myelination	0	NADK2 CL E G H	133686	26404	ORPHA:431361	Progressive encephalopathy with leukodystrophy due to DECR deficiency			14
HP:0012447	HP:0012447	Abnormal myelination	0	NARS1 CL E G H	4677	7643	OMIM:619091	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG
HP:0012447	HP:0012447	Abnormal myelination	0	NARS2 CL E G H	79731	26274	OMIM:616239	Combined oxidative phosphorylation deficiency 24			34
HP:0012447	HP:0012447	Abnormal myelination	0	NCDN CL E G H	23154	17597	OMIM:619373	NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS; NEDIES
HP:0012447	HP:0012447	Abnormal myelination	0	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency
HP:0012447	HP:0012447	Abnormal myelination	0	ND1 CL E G H	4535	7455	ORPHA:550	MELAS
HP:0012447	HP:0012447	Abnormal myelination	0	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012447	HP:0012447	Abnormal myelination	0	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency
HP:0012447	HP:0012447	Abnormal myelination	0	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012447	HP:0012447	Abnormal myelination	0	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency
HP:0012447	HP:0012447	Abnormal myelination	0	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012447	HP:0012447	Abnormal myelination	0	ND4 CL E G H	4538	7459	ORPHA:550	MELAS
HP:0012447	HP:0012447	Abnormal myelination	0	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012447	HP:0012447	Abnormal myelination	0	ND5 CL E G H	4540	7461	ORPHA:550	MELAS
HP:0012447	HP:0012447	Abnormal myelination	0	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012447	HP:0012447	Abnormal myelination	0	ND6 CL E G H	4541	7462	ORPHA:550	MELAS
HP:0012447	HP:0012447	Abnormal myelination	0	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012447	HP:0012447	Abnormal myelination	0	NDRG1 CL E G H	10397	7679	ORPHA:99950	Charcot-Marie-Tooth disease type 4D			82
HP:0012447	HP:0012447	Abnormal myelination	0	NDRG1 CL E G H	10397	7679	OMIM:601455	Charcot-Marie-Tooth disease, type 4D			82
HP:0012447	HP:0012447	Abnormal myelination	0	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency			7
HP:0012447	HP:0012447	Abnormal myelination	0	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy			91
HP:0012447	HP:0012447	Abnormal myelination	0	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency			32
HP:0012447	HP:0012447	Abnormal myelination	0	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy			7
HP:0012447	HP:0012447	Abnormal myelination	0	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy			3
HP:0012447	HP:0012447	Abnormal myelination	0	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy			19
HP:0012447	HP:0012447	Abnormal myelination	0	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy			4
HP:0012447	HP:0012447	Abnormal myelination	0	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency			1
HP:0012447	HP:0012447	Abnormal myelination	0	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0012447	HP:0012447	Abnormal myelination	0	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency			40
HP:0012447	HP:0012447	Abnormal myelination	0	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency			26
HP:0012447	HP:0012447	Abnormal myelination	0	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy			26
HP:0012447	HP:0012447	Abnormal myelination	0	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency			31
HP:0012447	HP:0012447	Abnormal myelination	0	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy			31
HP:0012447	HP:0012447	Abnormal myelination	0	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency			50
HP:0012447	HP:0012447	Abnormal myelination	0	NDUFAF4 CL E G H	29078	21034	OMIM:618237	Mitochondrial complex I deficiency, nuclear type 15			50
HP:0012447	HP:0012447	Abnormal myelination	0	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency			34
HP:0012447	HP:0012447	Abnormal myelination	0	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy			34
HP:0012447	HP:0012447	Abnormal myelination	0	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy			39
HP:0012447	HP:0012447	Abnormal myelination	0	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency
HP:0012447	HP:0012447	Abnormal myelination	0	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency
HP:0012447	HP:0012447	Abnormal myelination	0	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency			3
HP:0012447	HP:0012447	Abnormal myelination	0	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency			9
HP:0012447	HP:0012447	Abnormal myelination	0	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy
HP:0012447	HP:0012447	Abnormal myelination	0	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency			16
HP:0012447	HP:0012447	Abnormal myelination	0	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency			81
HP:0012447	HP:0012447	Abnormal myelination	0	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy			81
HP:0012447	HP:0012447	Abnormal myelination	0	NDUFS1 CL E G H	4719	7707	OMIM:618226	Mitochondrial complex I deficiency, nuclear type 5			81
HP:0012447	HP:0012447	Abnormal myelination	0	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency			65
HP:0012447	HP:0012447	Abnormal myelination	0	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy			65
HP:0012447	HP:0012447	Abnormal myelination	0	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy			65
HP:0012447	HP:0012447	Abnormal myelination	0	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency			22
HP:0012447	HP:0012447	Abnormal myelination	0	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy			22
HP:0012447	HP:0012447	Abnormal myelination	0	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency			27
HP:0012447	HP:0012447	Abnormal myelination	0	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0012447	HP:0012447	Abnormal myelination	0	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1			27
HP:0012447	HP:0012447	Abnormal myelination	0	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency			21
HP:0012447	HP:0012447	Abnormal myelination	0	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency			38
HP:0012447	HP:0012447	Abnormal myelination	0	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy			38
HP:0012447	HP:0012447	Abnormal myelination	0	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency			42
HP:0012447	HP:0012447	Abnormal myelination	0	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy			42
HP:0012447	HP:0012447	Abnormal myelination	0	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency			74
HP:0012447	HP:0012447	Abnormal myelination	0	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy			74
HP:0012447	HP:0012447	Abnormal myelination	0	NDUFV1 CL E G H	4723	7716	OMIM:618225	Mitochondrial complex I deficiency, nuclear type 4			74
HP:0012447	HP:0012447	Abnormal myelination	0	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency			27
HP:0012447	HP:0012447	Abnormal myelination	0	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0012447	HP:0012447	Abnormal myelination	0	NECAP1 CL E G H	25977	24539	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		1
HP:0012447	HP:0012447	Abnormal myelination	0	NEFL CL E G H	4747	7739	ORPHA:99939	Autosomal dominant Charcot-Marie-Tooth disease type 2E			118
HP:0012447	HP:0012447	Abnormal myelination	0	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F			118
HP:0012447	HP:0012447	Abnormal myelination	0	NEFL CL E G H	4747	7739	OMIM:607684	Charcot-Marie-Tooth disease, axonal, type 2E			118
HP:0012447	HP:0012447	Abnormal myelination	0	NEFL CL E G H	4747	7739	OMIM:607734	Charcot-Marie-Tooth disease, demyelinating, type 1F			118
HP:0012447	HP:0012447	Abnormal myelination	0	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy
HP:0012447	HP:0012447	Abnormal myelination	0	NEUROD2 CL E G H	4761	7763	OMIM:618374	Epileptic encephalopathy, early infantile, 72
HP:0012447	HP:0012447	Abnormal myelination	0	NGF CL E G H	4803	7808	ORPHA:64752	Hereditary sensory and autonomic neuropathy type 5			20
HP:0012447	HP:0012447	Abnormal myelination	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040282 - Frequent		32
HP:0012447	HP:0012447	Abnormal myelination	0	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation			32
HP:0012447	HP:0012447	Abnormal myelination	0	NKX6-2 CL E G H	84504	19321	ORPHA:527497	NKX6-2-related autosomal recessive hypomyelinating leukodystrophy			2
HP:0012447	HP:0012447	Abnormal myelination	0	NKX6-2 CL E G H	84504	19321	OMIM:617560	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy			2
HP:0012447	HP:0012447	Abnormal myelination	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:0012447	HP:0012447	Abnormal myelination	0	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome			37
HP:0012447	HP:0012447	Abnormal myelination	0	NRCAM CL E G H	4897	7994	OMIM:619833				2
HP:0012447	HP:0012447	Abnormal myelination	0	NRROS CL E G H	375387	24613	OMIM:618875	SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS; SENEBAC			1
HP:0012447	HP:0012447	Abnormal myelination	0	NTRK1 CL E G H	4914	8031	ORPHA:64752	Hereditary sensory and autonomic neuropathy type 5			97
HP:0012447	HP:0012447	Abnormal myelination	0	NTRK1 CL E G H	4914	8031	OMIM:256800	Insensitivity to pain, congenital, with anhidrosis			97
HP:0012447	HP:0012447	Abnormal myelination	0	NTRK2 CL E G H	4915	8032	OMIM:617830	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58; EIEE58			8
HP:0012447	HP:0012447	Abnormal myelination	0	NTRK2 CL E G H	4915	8032	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		8
HP:0012447	HP:0012447	Abnormal myelination	0	NTRK2 CL E G H	4915	8032	OMIM:613886	Obesity, hyperphagia, and developmental delay			8
HP:0012447	HP:0012447	Abnormal myelination	0	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency			89
HP:0012447	HP:0012447	Abnormal myelination	0	NUBPL CL E G H	80224	20278	OMIM:618242	Mitochondrial complex I deficiency, nuclear type 21			89
HP:0012447	HP:0012447	Abnormal myelination	0	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF			4
HP:0012447	HP:0012447	Abnormal myelination	0	NUS1 CL E G H	116150	21042	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		1
HP:0012447	HP:0012447	Abnormal myelination	0	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion			121
HP:0012447	HP:0012447	Abnormal myelination	0	OSTM1 CL E G H	28962	21652	ORPHA:85179	Infantile osteopetrosis with neuroaxonal dysplasia	HP:0040282 - Frequent		73
HP:0012447	HP:0012447	Abnormal myelination	0	PAK1 CL E G H	5058	8590	OMIM:618158	Intellectual developmental disorder with macrocephaly, seizures, and speech delay
HP:0012447	HP:0012447	Abnormal myelination	0	PARS2 CL E G H	25973	30563	OMIM:618437	Epileptic encephalopathy, early infantile, 75			14
HP:0012447	HP:0012447	Abnormal myelination	0	PARS2 CL E G H	25973	30563	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		14
HP:0012447	HP:0012447	Abnormal myelination	0	PC CL E G H	5091	8636	OMIM:266150	Pyruvate carboxylase deficiency			118
HP:0012447	HP:0012447	Abnormal myelination	0	PDCD1 CL E G H	5133	8760	OMIM:126200	Multiple sclerosis, susceptibility to			1
HP:0012447	HP:0012447	Abnormal myelination	0	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy			88
HP:0012447	HP:0012447	Abnormal myelination	0	PDYN CL E G H	5173	8820	OMIM:610245	Spinocerebellar ataxia 23			52
HP:0012447	HP:0012447	Abnormal myelination	0	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy			6
HP:0012447	HP:0012447	Abnormal myelination	0	PEX1 CL E G H	5189	8850	OMIM:601539	Peroxisome biogenesis disorder 1B			169
HP:0012447	HP:0012447	Abnormal myelination	0	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B			75
HP:0012447	HP:0012447	Abnormal myelination	0	PEX13 CL E G H	5194	8855	OMIM:614883	Peroxisome biogenesis disorder 11A (Zellweger)			66
HP:0012447	HP:0012447	Abnormal myelination	0	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B			59
HP:0012447	HP:0012447	Abnormal myelination	0	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)			62
HP:0012447	HP:0012447	Abnormal myelination	0	PEX7 CL E G H	5191	8860	OMIM:215100	Rhizomelic chondrodysplasia punctata, type 1			72
HP:0012447	HP:0012447	Abnormal myelination	0	PGAP1 CL E G H	80055	25712	ORPHA:401820	Autosomal recessive spastic paraplegia type 67	HP:0040282 - Frequent		20
HP:0012447	HP:0012447	Abnormal myelination	0	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0012447	HP:0012447	Abnormal myelination	0	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			8
HP:0012447	HP:0012447	Abnormal myelination	0	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			20
HP:0012447	HP:0012447	Abnormal myelination	0	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23			15
HP:0012447	HP:0012447	Abnormal myelination	0	PHACTR1 CL E G H	221692	20990	OMIM:618298	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE70			1
HP:0012447	HP:0012447	Abnormal myelination	0	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form			37
HP:0012447	HP:0012447	Abnormal myelination	0	PHGDH CL E G H	26227	8923	OMIM:601815	Phosphoglycerate dehydrogenase deficiency			37
HP:0012447	HP:0012447	Abnormal myelination	0	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2			11
HP:0012447	HP:0012447	Abnormal myelination	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0012447	HP:0012447	Abnormal myelination	0	PIGG CL E G H	54872	25985	ORPHA:488635	Early-onset epilepsy-intellectual disability-brain anomalies syndrome			7
HP:0012447	HP:0012447	Abnormal myelination	0	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			36
HP:0012447	HP:0012447	Abnormal myelination	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0012447	HP:0012447	Abnormal myelination	0	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			84
HP:0012447	HP:0012447	Abnormal myelination	0	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy			2
HP:0012447	HP:0012447	Abnormal myelination	0	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy			3
HP:0012447	HP:0012447	Abnormal myelination	0	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0012447	HP:0012447	Abnormal myelination	0	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0012447	HP:0012447	Abnormal myelination	0	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation			57
HP:0012447	HP:0012447	Abnormal myelination	0	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			57
HP:0012447	HP:0012447	Abnormal myelination	0	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			6
HP:0012447	HP:0012447	Abnormal myelination	0	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			2
HP:0012447	HP:0012447	Abnormal myelination	0	PKDCC CL E G H	91461	25123	OMIM:618821	RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0012447	HP:0012447	Abnormal myelination	0	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies			3
HP:0012447	HP:0012447	Abnormal myelination	0	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder			3
HP:0012447	HP:0012447	Abnormal myelination	0	PLEKHG2 CL E G H	64857	29515	OMIM:616763	Leukodystrophy and acquired microcephaly with or without dystonia			3
HP:0012447	HP:0012447	Abnormal myelination	0	PLEKHG5 CL E G H	57449	29105	OMIM:615376	Charcot-Marie-Tooth disease, recessive intermediate C			186
HP:0012447	HP:0012447	Abnormal myelination	0	PLP1 CL E G H	5354	9086	ORPHA:280234	Null syndrome			60
HP:0012447	HP:0012447	Abnormal myelination	0	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease			60
HP:0012447	HP:0012447	Abnormal myelination	0	PLP1 CL E G H	5354	9086	ORPHA:280229	Pelizaeus-Merzbacher disease in female carriers			60
HP:0012447	HP:0012447	Abnormal myelination	0	PLP1 CL E G H	5354	9086	ORPHA:280219	Pelizaeus-Merzbacher disease, classic form			60
HP:0012447	HP:0012447	Abnormal myelination	0	PLP1 CL E G H	5354	9086	ORPHA:280210	Pelizaeus-Merzbacher disease, connatal form	HP:0040281 - Very frequent		60
HP:0012447	HP:0012447	Abnormal myelination	0	PLP1 CL E G H	5354	9086	ORPHA:280224	Pelizaeus-Merzbacher disease, transitional form			60
HP:0012447	HP:0012447	Abnormal myelination	0	PLPBP CL E G H	11212	9457	ORPHA:3006	Pyridoxine-dependent epilepsy			6
HP:0012447	HP:0012447	Abnormal myelination	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG			150
HP:0012447	HP:0012447	Abnormal myelination	0	PMP2 CL E G H	5375	9117	OMIM:618279	Charcot-Marie-Tooth disease, demyelinating, type 1G			1
HP:0012447	HP:0012447	Abnormal myelination	0	PMP22 CL E G H	5376	9118	ORPHA:98916	Acute inflammatory demyelinating polyradiculoneuropathy			79
HP:0012447	HP:0012447	Abnormal myelination	0	PMP22 CL E G H	5376	9118	ORPHA:101081	Charcot-Marie-Tooth disease type 1A			79
HP:0012447	HP:0012447	Abnormal myelination	0	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E			79
HP:0012447	HP:0012447	Abnormal myelination	0	PMP22 CL E G H	5376	9118	OMIM:118220	Charcot-Marie-Tooth disease, demyelinating, type 1A			79
HP:0012447	HP:0012447	Abnormal myelination	0	PMP22 CL E G H	5376	9118	OMIM:139393	GUILLAIN-BARRE SYNDROME, FAMILIAL; GBS			79
HP:0012447	HP:0012447	Abnormal myelination	0	PMP22 CL E G H	5376	9118	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			79
HP:0012447	HP:0012447	Abnormal myelination	0	PMP22 CL E G H	5376	9118	OMIM:162500	Neuropathy, hereditary, with liability to pressure palsies			79
HP:0012447	HP:0012447	Abnormal myelination	0	PMP22 CL E G H	5376	9118	ORPHA:3115	Roussy-Lévy syndrome			79
HP:0012447	HP:0012447	Abnormal myelination	0	PMP22 CL E G H	5376	9118	OMIM:180800	Roussy-Levy hereditary areflexic dystasia			79
HP:0012447	HP:0012447	Abnormal myelination	0	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy			244
HP:0012447	HP:0012447	Abnormal myelination	0	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13			60
HP:0012447	HP:0012447	Abnormal myelination	0	PNPT1 CL E G H	87178	23166	OMIM:614932	Combined oxidative phosphorylation deficiency 13			60
HP:0012447	HP:0012447	Abnormal myelination	0	PNPT1 CL E G H	87178	23166	OMIM:608703	Spinocerebellar ataxia 25			60
HP:0012447	HP:0012447	Abnormal myelination	0	PNPT1 CL E G H	87178	23166	ORPHA:101111	Spinocerebellar ataxia type 25			60
HP:0012447	HP:0012447	Abnormal myelination	0	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome			35
HP:0012447	HP:0012447	Abnormal myelination	0	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0012447	HP:0012447	Abnormal myelination	0	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			464
HP:0012447	HP:0012447	Abnormal myelination	0	POLR1C CL E G H	9533	20194	ORPHA:88637	Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome			38
HP:0012447	HP:0012447	Abnormal myelination	0	POLR1C CL E G H	9533	20194	OMIM:616494	Leukodystrophy, hypomyelinating, 11			38
HP:0012447	HP:0012447	Abnormal myelination	0	POLR2A CL E G H	5430	9187	OMIM:618603	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0012447	HP:0012447	Abnormal myelination	0	POLR3A CL E G H	11128	30074	ORPHA:88637	Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome			138
HP:0012447	HP:0012447	Abnormal myelination	0	POLR3A CL E G H	11128	30074	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism			138
HP:0012447	HP:0012447	Abnormal myelination	0	POLR3A CL E G H	11128	30074	ORPHA:447896	Tremor-ataxia-central hypomyelination syndrome			138
HP:0012447	HP:0012447	Abnormal myelination	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome			138
HP:0012447	HP:0012447	Abnormal myelination	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0012447	HP:0012447	Abnormal myelination	0	POLR3B CL E G H	55703	30348	OMIM:619742	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I			67
HP:0012447	HP:0012447	Abnormal myelination	0	POLR3B CL E G H	55703	30348	ORPHA:88637	Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome			67
HP:0012447	HP:0012447	Abnormal myelination	0	POLR3B CL E G H	55703	30348	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism			67
HP:0012447	HP:0012447	Abnormal myelination	0	POLR3B CL E G H	55703	30348	OMIM:614381	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism			67
HP:0012447	HP:0012447	Abnormal myelination	0	POU3F3 CL E G H	5455	9216	OMIM:618604	SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS
HP:0012447	HP:0012447	Abnormal myelination	0	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0012447	HP:0012447	Abnormal myelination	0	PPIL1 CL E G H	51645	9260	OMIM:619301	PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0012447	HP:0012447	Abnormal myelination	0	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2			2
HP:0012447	HP:0012447	Abnormal myelination	0	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			2
HP:0012447	HP:0012447	Abnormal myelination	0	PPP2CA CL E G H	5515	9299	OMIM:618354	Neurodevelopmental disorder and language delay with or without structural brain abnormalities			2
HP:0012447	HP:0012447	Abnormal myelination	0	PPP2R1A CL E G H	5518	9302	OMIM:616362	Mental retardation, autosomal dominant 36			13
HP:0012447	HP:0012447	Abnormal myelination	0	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome			13
HP:0012447	HP:0012447	Abnormal myelination	0	PPP3CA CL E G H	5530	9314	OMIM:617711	Epileptic encephalopathy, infantile or early childhood, 1			2
HP:0012447	HP:0012447	Abnormal myelination	0	PPP3CA CL E G H	5530	9314	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		2
HP:0012447	HP:0012447	Abnormal myelination	0	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2			58
HP:0012447	HP:0012447	Abnormal myelination	0	PRKDC CL E G H	5591	9413	OMIM:615966	Immunodeficiency 26 with or without neurologic abnormalities			42
HP:0012447	HP:0012447	Abnormal myelination	0	PRMT7 CL E G H	54496	25557	OMIM:617157	Short stature, brachydactyly, intellectual developmental disability, and seizures			6
HP:0012447	HP:0012447	Abnormal myelination	0	PRPS1 CL E G H	5631	9462	OMIM:301835	Arts syndrome			49
HP:0012447	HP:0012447	Abnormal myelination	0	PRPS1 CL E G H	5631	9462	OMIM:311070	Charcot-Marie-Tooth disease, X-linked recessive, 5			49
HP:0012447	HP:0012447	Abnormal myelination	0	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy			49
HP:0012447	HP:0012447	Abnormal myelination	0	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome			49
HP:0012447	HP:0012447	Abnormal myelination	0	PRUNE1 CL E G H	58497	13420	OMIM:617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies			8
HP:0012447	HP:0012447	Abnormal myelination	0	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome			8
HP:0012447	HP:0012447	Abnormal myelination	0	PRX CL E G H	57716	13797	OMIM:614895	Charcot-Marie-Tooth disease, demyelinating, type 4F			170
HP:0012447	HP:0012447	Abnormal myelination	0	PRX CL E G H	57716	13797	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			170
HP:0012447	HP:0012447	Abnormal myelination	0	PSAP CL E G H	5660	9498	OMIM:611721	Combined saposin deficiency			81
HP:0012447	HP:0012447	Abnormal myelination	0	PSAP CL E G H	5660	9498	OMIM:611722	KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY			81
HP:0012447	HP:0012447	Abnormal myelination	0	PSAP CL E G H	5660	9498	OMIM:249900	Metachromatic leukodystrophy due to saposin B deficiency			81
HP:0012447	HP:0012447	Abnormal myelination	0	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form			81
HP:0012447	HP:0012447	Abnormal myelination	0	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form			81
HP:0012447	HP:0012447	Abnormal myelination	0	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form			81
HP:0012447	HP:0012447	Abnormal myelination	0	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form			27
HP:0012447	HP:0012447	Abnormal myelination	0	PTEN CL E G H	5728	9588	ORPHA:101070	Bilateral frontoparietal polymicrogyria			948
HP:0012447	HP:0012447	Abnormal myelination	0	PURA CL E G H	5813	9701	OMIM:616158	Mental retardation, autosomal dominant 31			53
HP:0012447	HP:0012447	Abnormal myelination	0	PURA CL E G H	5813	9701	ORPHA:314655	Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion			53
HP:0012447	HP:0012447	Abnormal myelination	0	PYCR2 CL E G H	29920	30262	OMIM:616420	Leukodystrophy, hypomyelinating, 10			11
HP:0012447	HP:0012447	Abnormal myelination	0	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy			11
HP:0012447	HP:0012447	Abnormal myelination	0	QARS1 CL E G H	5859	9751	OMIM:615760	Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
HP:0012447	HP:0012447	Abnormal myelination	0	RAB11B CL E G H	9230	9761	OMIM:617807	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
HP:0012447	HP:0012447	Abnormal myelination	0	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1			90
HP:0012447	HP:0012447	Abnormal myelination	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:401830	Autosomal recessive spastic paraplegia type 69	HP:0040282 - Frequent		135
HP:0012447	HP:0012447	Abnormal myelination	0	RAB7A CL E G H	7879	9788	OMIM:600882	Charcot-Marie-Tooth disease, axonal, type 2B			50
HP:0012447	HP:0012447	Abnormal myelination	0	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome			150
HP:0012447	HP:0012447	Abnormal myelination	0	RARS1 CL E G H	5917	9870	OMIM:616140	Leukodystrophy, hypomyelinating, 9
HP:0012447	HP:0012447	Abnormal myelination	0	RARS1 CL E G H	5917	9870	ORPHA:438114	RARS-related autosomal recessive hypomyelinating leukodystrophy
HP:0012447	HP:0012447	Abnormal myelination	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome			10
HP:0012447	HP:0012447	Abnormal myelination	0	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0012447	HP:0012447	Abnormal myelination	0	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome			16
HP:0012447	HP:0012447	Abnormal myelination	0	RETREG1 CL E G H	54463	25964	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II			54
HP:0012447	HP:0012447	Abnormal myelination	0	RFC1 CL E G H	5981	9969	ORPHA:504476	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
HP:0012447	HP:0012447	Abnormal myelination	0	RHOBTB2 CL E G H	23221	18756	OMIM:618004	Epileptic encephalopathy, early infantile, 64			1
HP:0012447	HP:0012447	Abnormal myelination	0	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11			26
HP:0012447	HP:0012447	Abnormal myelination	0	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome			33
HP:0012447	HP:0012447	Abnormal myelination	0	RNASEH2A CL E G H	10535	18518	OMIM:610333	Aicardi-Goutieres syndrome 4			33
HP:0012447	HP:0012447	Abnormal myelination	0	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome			34
HP:0012447	HP:0012447	Abnormal myelination	0	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome			60
HP:0012447	HP:0012447	Abnormal myelination	0	RNASEH2C CL E G H	84153	24116	OMIM:610329	Aicardi-Goutieres syndrome 3			60
HP:0012447	HP:0012447	Abnormal myelination	0	RNASET2 CL E G H	8635	21686	OMIM:612951	Leukoencephalopathy, cystic, without megalencephaly			37
HP:0012447	HP:0012447	Abnormal myelination	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy			3
HP:0012447	HP:0012447	Abnormal myelination	0	RNF13 CL E G H	11342	10057	OMIM:618379	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73
HP:0012447	HP:0012447	Abnormal myelination	0	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy
HP:0012447	HP:0012447	Abnormal myelination	0	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome			7
HP:0012447	HP:0012447	Abnormal myelination	0	RNF220 CL E G H	55182	25552	OMIM:619688	LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY; HLD23			1
HP:0012447	HP:0012447	Abnormal myelination	0	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome
HP:0012447	HP:0012447	Abnormal myelination	0	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0012447	HP:0012447	Abnormal myelination	0	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			125
HP:0012447	HP:0012447	Abnormal myelination	0	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay			309
HP:0012447	HP:0012447	Abnormal myelination	0	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type			309
HP:0012447	HP:0012447	Abnormal myelination	0	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome			55
HP:0012447	HP:0012447	Abnormal myelination	0	SAMHD1 CL E G H	25939	15925	OMIM:612952	Aicardi-Goutieres syndrome 5			55
HP:0012447	HP:0012447	Abnormal myelination	0	SATB2 CL E G H	23314	21637	ORPHA:576283	SATB2-associated syndrome due to a pathogenic variant			34
HP:0012447	HP:0012447	Abnormal myelination	0	SBF1 CL E G H	6305	10542	OMIM:615284	Charcot-Marie-Tooth disease, type 4B3			16
HP:0012447	HP:0012447	Abnormal myelination	0	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2			180
HP:0012447	HP:0012447	Abnormal myelination	0	SBF2 CL E G H	81846	2135	OMIM:604563	Charcot-Marie-Tooth disease, type 4B2			180
HP:0012447	HP:0012447	Abnormal myelination	0	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy			126
HP:0012447	HP:0012447	Abnormal myelination	0	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy			427
HP:0012447	HP:0012447	Abnormal myelination	0	SCN3A CL E G H	6328	10590	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		70
HP:0012447	HP:0012447	Abnormal myelination	0	SCN8A CL E G H	6334	10596	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		357
HP:0012447	HP:0012447	Abnormal myelination	0	SCN9A CL E G H	6335	10597	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II			318
HP:0012447	HP:0012447	Abnormal myelination	0	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy			40
HP:0012447	HP:0012447	Abnormal myelination	0	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy			304
HP:0012447	HP:0012447	Abnormal myelination	0	SDHB CL E G H	6390	10681	OMIM:619224	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4			237
HP:0012447	HP:0012447	Abnormal myelination	0	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
HP:0012447	HP:0012447	Abnormal myelination	0	SEPSECS CL E G H	51091	30605	OMIM:613811	Pontocerebellar hypoplasia, type 2D			66
HP:0012447	HP:0012447	Abnormal myelination	0	SETD1A CL E G H	9739	29010	OMIM:618832	EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY; EPEDD			6
HP:0012447	HP:0012447	Abnormal myelination	0	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C			493
HP:0012447	HP:0012447	Abnormal myelination	0	SH3TC2 CL E G H	79628	29427	OMIM:601596	Charcot-Marie-Tooth disease, type 4C			493
HP:0012447	HP:0012447	Abnormal myelination	0	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0012447	HP:0012447	Abnormal myelination	0	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency			2
HP:0012447	HP:0012447	Abnormal myelination	0	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			6
HP:0012447	HP:0012447	Abnormal myelination	0	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy			11
HP:0012447	HP:0012447	Abnormal myelination	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0012447	HP:0012447	Abnormal myelination	0	SLC12A5 CL E G H	57468	13818	OMIM:616645	Epileptic encephalopathy, early infantile, 34			8
HP:0012447	HP:0012447	Abnormal myelination	0	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy			163
HP:0012447	HP:0012447	Abnormal myelination	0	SLC13A5 CL E G H	284111	23089	OMIM:615905	Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta			73
HP:0012447	HP:0012447	Abnormal myelination	0	SLC13A5 CL E G H	284111	23089	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		73
HP:0012447	HP:0012447	Abnormal myelination	0	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome			57
HP:0012447	HP:0012447	Abnormal myelination	0	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome			57
HP:0012447	HP:0012447	Abnormal myelination	0	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy			110
HP:0012447	HP:0012447	Abnormal myelination	0	SLC1A2 CL E G H	6506	10940	OMIM:617105	Epileptic encephalopathy, early infantile, 41			3
HP:0012447	HP:0012447	Abnormal myelination	0	SLC1A2 CL E G H	6506	10940	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		3
HP:0012447	HP:0012447	Abnormal myelination	0	SLC1A4 CL E G H	6509	10942	OMIM:616657	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly			4
HP:0012447	HP:0012447	Abnormal myelination	0	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome			4
HP:0012447	HP:0012447	Abnormal myelination	0	SLC25A1 CL E G H	6576	10979	OMIM:615182	Combined d-2- and l-2-hydroxyglutaric aciduria			28
HP:0012447	HP:0012447	Abnormal myelination	0	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39			44
HP:0012447	HP:0012447	Abnormal myelination	0	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy			166
HP:0012447	HP:0012447	Abnormal myelination	0	SLC25A22 CL E G H	79751	19954	OMIM:609304	Epileptic encephalopathy, early infantile, 3			166
HP:0012447	HP:0012447	Abnormal myelination	0	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin			255
HP:0012447	HP:0012447	Abnormal myelination	0	SLC2A1 CL E G H	6513	11005	OMIM:608885	Stomatin-Deficient cryohydrocytosis with neurologic defects			255
HP:0012447	HP:0012447	Abnormal myelination	0	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome	HP:0040282 - Frequent		42
HP:0012447	HP:0012447	Abnormal myelination	0	SLC33A1 CL E G H	9197	95	OMIM:614482	Congenital cataracts, hearing loss, and neurodegeneration			48
HP:0012447	HP:0012447	Abnormal myelination	0	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm			27
HP:0012447	HP:0012447	Abnormal myelination	0	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG			27
HP:0012447	HP:0012447	Abnormal myelination	0	SLC38A3 CL E G H	10991	18044	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0012447	HP:0012447	Abnormal myelination	0	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked			122
HP:0012447	HP:0012447	Abnormal myelination	0	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome			2
HP:0012447	HP:0012447	Abnormal myelination	0	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A			164
HP:0012447	HP:0012447	Abnormal myelination	0	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA			1
HP:0012447	HP:0012447	Abnormal myelination	0	SNIP1 CL E G H	79753	30587	OMIM:614501	Psychomotor retardation, epilepsy, and craniofacial dysmorphism			3
HP:0012447	HP:0012447	Abnormal myelination	0	SNORD118 CL E G H	727676	32952	OMIM:614561	Leukoencephalopathy, brain calcifications, and cysts			6
HP:0012447	HP:0012447	Abnormal myelination	0	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease			61
HP:0012447	HP:0012447	Abnormal myelination	0	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E			61
HP:0012447	HP:0012447	Abnormal myelination	0	SOX3 CL E G H	6658	11199	ORPHA:67045	X-linked intellectual disability with isolated growth hormone deficiency	HP:0040283 - Occasional		24
HP:0012447	HP:0012447	Abnormal myelination	0	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome			49
HP:0012447	HP:0012447	Abnormal myelination	0	SPATA5 CL E G H	166378	18119	OMIM:616577	Epilepsy, hearing loss, and mental retardation syndrome			19
HP:0012447	HP:0012447	Abnormal myelination	0	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome			19
HP:0012447	HP:0012447	Abnormal myelination	0	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			287
HP:0012447	HP:0012447	Abnormal myelination	0	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive			287
HP:0012447	HP:0012447	Abnormal myelination	0	SPTAN1 CL E G H	6709	11273	OMIM:613477	Epileptic encephalopathy, early infantile, 5			416
HP:0012447	HP:0012447	Abnormal myelination	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0012447	HP:0012447	Abnormal myelination	0	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			54
HP:0012447	HP:0012447	Abnormal myelination	0	SPTLC1 CL E G H	10558	11277	OMIM:162400	Neuropathy, hereditary sensory and autonomic, type IA			54
HP:0012447	HP:0012447	Abnormal myelination	0	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome			24
HP:0012447	HP:0012447	Abnormal myelination	0	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome			237
HP:0012447	HP:0012447	Abnormal myelination	0	STXBP1 CL E G H	6812	11444	OMIM:612164	Epileptic encephalopathy, early infantile, 4			237
HP:0012447	HP:0012447	Abnormal myelination	0	SUMF1 CL E G H	285362	20376	OMIM:272200	Multiple sulfatase deficiency			80
HP:0012447	HP:0012447	Abnormal myelination	0	SURF1 CL E G H	6834	11474	OMIM:616684	Charcot-Marie-Tooth disease, type 4K			73
HP:0012447	HP:0012447	Abnormal myelination	0	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy			73
HP:0012447	HP:0012447	Abnormal myelination	0	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy			73
HP:0012447	HP:0012447	Abnormal myelination	0	SYNGAP1 CL E G H	8831	11497	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		108
HP:0012447	HP:0012447	Abnormal myelination	0	SYNJ1 CL E G H	8867	11503	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		9
HP:0012447	HP:0012447	Abnormal myelination	0	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome			1
HP:0012447	HP:0012447	Abnormal myelination	0	SZT2 CL E G H	23334	29040	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		123
HP:0012447	HP:0012447	Abnormal myelination	0	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy			23
HP:0012447	HP:0012447	Abnormal myelination	0	TAF13 CL E G H	6884	11546	OMIM:617432	Mental retardation, autosomal recessive 60			2
HP:0012447	HP:0012447	Abnormal myelination	0	TAF2 CL E G H	6873	11536	OMIM:615599	Mental retardation, autosomal recessive 40			7
HP:0012447	HP:0012447	Abnormal myelination	0	TAF2 CL E G H	6873	11536	ORPHA:397951	Microcephaly-thin corpus callosum-intellectual disability syndrome			7
HP:0012447	HP:0012447	Abnormal myelination	0	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0012447	HP:0012447	Abnormal myelination	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0012447	HP:0012447	Abnormal myelination	0	TBC1D24 CL E G H	57465	29203	OMIM:615338	Epileptic encephalopathy, early infantile, 16			271
HP:0012447	HP:0012447	Abnormal myelination	0	TBC1D24 CL E G H	57465	29203	ORPHA:352596	Progressive myoclonic epilepsy with dystonia			271
HP:0012447	HP:0012447	Abnormal myelination	0	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome			16
HP:0012447	HP:0012447	Abnormal myelination	0	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT			16
HP:0012447	HP:0012447	Abnormal myelination	0	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome			52
HP:0012447	HP:0012447	Abnormal myelination	0	TFG CL E G H	10342	11758	ORPHA:431329	Autosomal recessive spastic paraplegia type 57	HP:0040281 - Very frequent		18
HP:0012447	HP:0012447	Abnormal myelination	0	TFG CL E G H	10342	11758	OMIM:604484	Neuropathy, hereditary motor and sensory, Okinawa type			18
HP:0012447	HP:0012447	Abnormal myelination	0	TFG CL E G H	10342	11758	OMIM:615658	Spastic paraplegia 57, autosomal recessive			18
HP:0012447	HP:0012447	Abnormal myelination	0	TGFB1 CL E G H	7040	11766	OMIM:618213	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE			13
HP:0012447	HP:0012447	Abnormal myelination	0	TIAM1 CL E G H	7074	11805	OMIM:619908				2
HP:0012447	HP:0012447	Abnormal myelination	0	TIMM22 CL E G H	29928	17317	OMIM:618851	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43; COXPD43
HP:0012447	HP:0012447	Abnormal myelination	0	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency			1
HP:0012447	HP:0012447	Abnormal myelination	0	TKFC CL E G H	26007	24552	OMIM:618805	TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0012447	HP:0012447	Abnormal myelination	0	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16
HP:0012447	HP:0012447	Abnormal myelination	0	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency			4
HP:0012447	HP:0012447	Abnormal myelination	0	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0012447	HP:0012447	Abnormal myelination	0	TMEM240 CL E G H	339453	25186	OMIM:607454	Spinocerebellar ataxia 21			9
HP:0012447	HP:0012447	Abnormal myelination	0	TMEM63A CL E G H	9725	29118	OMIM:618688	LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0012447	HP:0012447	Abnormal myelination	0	TMTC3 CL E G H	160418	26899	OMIM:617255	Lissencephaly 8	HP:0040283 - Occasional		5
HP:0012447	HP:0012447	Abnormal myelination	0	TNPO2 CL E G H	30000	19998	OMIM:619556	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0012447	HP:0012447	Abnormal myelination	0	TNR CL E G H	7143	11953	OMIM:619653	NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO			7
HP:0012447	HP:0012447	Abnormal myelination	0	TRAK1 CL E G H	22906	29947	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0012447	HP:0012447	Abnormal myelination	0	TRAPPC11 CL E G H	60684	25751	OMIM:615356	Muscular dystrophy, limb-girdle, autosomal recessive 18			27
HP:0012447	HP:0012447	Abnormal myelination	0	TRAPPC2L CL E G H	51693	30887	OMIM:618331	Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis
HP:0012447	HP:0012447	Abnormal myelination	0	TREM2 CL E G H	54209	17761	OMIM:618193	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL2			31
HP:0012447	HP:0012447	Abnormal myelination	0	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome			56
HP:0012447	HP:0012447	Abnormal myelination	0	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1			56
HP:0012447	HP:0012447	Abnormal myelination	0	TRIM2 CL E G H	23321	15974	OMIM:615490	Charcot-Marie-Tooth disease, axonal, type 2R			3
HP:0012447	HP:0012447	Abnormal myelination	0	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy			1
HP:0012447	HP:0012447	Abnormal myelination	0	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS			1
HP:0012447	HP:0012447	Abnormal myelination	0	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			7
HP:0012447	HP:0012447	Abnormal myelination	0	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26			4
HP:0012447	HP:0012447	Abnormal myelination	0	TRNF CL E G H	4558	7481	ORPHA:550	MELAS
HP:0012447	HP:0012447	Abnormal myelination	0	TRNH CL E G H	4564	7487	ORPHA:550	MELAS
HP:0012447	HP:0012447	Abnormal myelination	0	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012447	HP:0012447	Abnormal myelination	0	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS
HP:0012447	HP:0012447	Abnormal myelination	0	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012447	HP:0012447	Abnormal myelination	0	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS
HP:0012447	HP:0012447	Abnormal myelination	0	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS
HP:0012447	HP:0012447	Abnormal myelination	0	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS
HP:0012447	HP:0012447	Abnormal myelination	0	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD			28
HP:0012447	HP:0012447	Abnormal myelination	0	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012447	HP:0012447	Abnormal myelination	0	TRNW CL E G H	4578	7501	ORPHA:550	MELAS
HP:0012447	HP:0012447	Abnormal myelination	0	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012447	HP:0012447	Abnormal myelination	0	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism			2
HP:0012447	HP:0012447	Abnormal myelination	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0012447	HP:0012447	Abnormal myelination	0	TUBB4A CL E G H	10382	20774	OMIM:612438	Leukodystrophy, hypomyelinating, 6			66
HP:0012447	HP:0012447	Abnormal myelination	0	TUFM CL E G H	7284	12420	OMIM:610678	Combined oxidative phosphorylation deficiency 4			55
HP:0012447	HP:0012447	Abnormal myelination	0	TXN2 CL E G H	25828	17772	ORPHA:478029	Combined oxidative phosphorylation defect type 29			1
HP:0012447	HP:0012447	Abnormal myelination	0	TXN2 CL E G H	25828	17772	OMIM:616811	Combined oxidative phosphorylation deficiency 29			1
HP:0012447	HP:0012447	Abnormal myelination	0	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			138
HP:0012447	HP:0012447	Abnormal myelination	0	TYROBP CL E G H	7305	12449	OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy			22
HP:0012447	HP:0012447	Abnormal myelination	0	UBA5 CL E G H	79876	23230	OMIM:617132	Epileptic encephalopathy, early infantile, 44			13
HP:0012447	HP:0012447	Abnormal myelination	0	UBA5 CL E G H	79876	23230	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		13
HP:0012447	HP:0012447	Abnormal myelination	0	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion			278
HP:0012447	HP:0012447	Abnormal myelination	0	UBTF CL E G H	7343	12511	OMIM:617672	Neurodegeneration, childhood-onset, with brain atrophy			1
HP:0012447	HP:0012447	Abnormal myelination	0	UFC1 CL E G H	51506	26941	OMIM:618076	Neurodevelopmental disorder with spasticity and poor growth
HP:0012447	HP:0012447	Abnormal myelination	0	UGDH CL E G H	7358	12525	OMIM:618792	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0012447	HP:0012447	Abnormal myelination	0	UPB1 CL E G H	51733	16297	OMIM:613161	Beta-Ureidopropionase deficiency			44
HP:0012447	HP:0012447	Abnormal myelination	0	VPS11 CL E G H	55823	14583	OMIM:616683	Leukodystrophy, hypomyelinating, 12			1
HP:0012447	HP:0012447	Abnormal myelination	0	VPS11 CL E G H	55823	14583	ORPHA:466934	VPS11-related autosomal recessive hypomyelinating leukodystrophy			1
HP:0012447	HP:0012447	Abnormal myelination	0	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis			130
HP:0012447	HP:0012447	Abnormal myelination	0	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders			1
HP:0012447	HP:0012447	Abnormal myelination	0	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0012447	HP:0012447	Abnormal myelination	0	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A			32
HP:0012447	HP:0012447	Abnormal myelination	0	WARS2 CL E G H	10352	12730	OMIM:617710	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures			2
HP:0012447	HP:0012447	Abnormal myelination	0	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect			2
HP:0012447	HP:0012447	Abnormal myelination	0	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome			8
HP:0012447	HP:0012447	Abnormal myelination	0	WNK1 CL E G H	65125	14540	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II			199
HP:0012447	HP:0012447	Abnormal myelination	0	WWOX CL E G H	51741	12799	OMIM:616211	Epileptic encephalopathy, early infantile, 28			149
HP:0012447	HP:0012447	Abnormal myelination	0	WWOX CL E G H	51741	12799	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		149
HP:0012447	HP:0012447	Abnormal myelination	0	YIF1B CL E G H	90522	30511	OMIM:619125	KAYA-BARAKAT-MASSON SYNDROME; KABAMAS
HP:0012447	HP:0012447	Abnormal myelination	0	YRDC CL E G H	79693	28905	OMIM:619609	GALLOWAY-MOWAT SYNDROME 10; GAMOS10
HP:0012447	HP:0012447	Abnormal myelination	0	YWHAG CL E G H	7532	12852	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0012447	HP:0012447	Abnormal myelination	0	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome			7
HP:0012447	HP:0012447	Abnormal myelination	0	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome			7
HP:0012447	HP:0012447	Abnormal myelination	0	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome			19
HP:0012447	HP:0012447	Abnormal myelination	0	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0012447	HP:0012447	Abnormal myelination	0	ZFR CL E G H	51663	17277	ORPHA:401840	Autosomal recessive spastic paraplegia type 71	HP:0040282 - Frequent		1
HP:0012447	HP:0012447	Abnormal myelination	0	ZFYVE26 CL E G H	23503	20761	ORPHA:100996	Autosomal recessive spastic paraplegia type 15			189
HP:0012447	HP:0012447	Abnormal myelination	0	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0012447	HP:0012447	Abnormal myelination	0	ZNF148 CL E G H	7707	12933	OMIM:617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies			4
HP:0012447	HP:0012447	Abnormal myelination	0	ZNF335 CL E G H	63925	15807	OMIM:615095	Microcephaly 10, primary, autosomal recessive			60
HP:0012447	HP:0012447	Abnormal myelination	0	ZNF526 CL E G H	116115	29415	OMIM:619877				24
HP:0012447	HP:0012447	Abnormal myelination	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0012447	HP:0012447	Abnormal myelination	0	ZNHIT3 CL E G H	9326	12309	OMIM:260565	Peho syndrome			1
HP:0012447	HP:0011400	Abnormal CNS myelination	1	AARS1 CL E G H	16	20	OMIM:616339	Epileptic encephalopathy, early infantile, 29
HP:0012447	HP:0011400	Abnormal CNS myelination	1	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0012447	HP:0012448	Delayed myelination	1	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0012447	HP:0011400	Abnormal CNS myelination	1	ABAT CL E G H	18	23	OMIM:613163	GABA-transaminase deficiency			120
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	ABCA1 CL E G H	19	29	OMIM:205400	Tangier disease			191
HP:0012447	HP:0011400	Abnormal CNS myelination	1	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy			135
HP:0012447	HP:0011400	Abnormal CNS myelination	1	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy			135
HP:0012447	HP:0007108	Demyelinating peripheral neuropathy	1	ABHD12 CL E G H	26090	15868	OMIM:612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract			50
HP:0012447	HP:0011400	Abnormal CNS myelination	1	ACBD5 CL E G H	91452	23338	OMIM:618863	RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD			1
HP:0012447	HP:0011400	Abnormal CNS myelination	1	ACER3 CL E G H	55331	16066	OMIM:617762	Leukodystrophy, progressive, early childhood-onset
HP:0012447	HP:0007108	Demyelinating peripheral neuropathy	1	ACO2 CL E G H	50	118	OMIM:614559	INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD			60
HP:0012447	HP:0011400	Abnormal CNS myelination	1	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency			120
HP:0012447	HP:0011400	Abnormal CNS myelination	1	ACTL6B CL E G H	51412	160	OMIM:618468	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE76			2
HP:0012447	HP:0012448	Delayed myelination	1	ACTL6B CL E G H	51412	160	OMIM:618468	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE76			2
HP:0012447	HP:0012448	Delayed myelination	1	ACY1 CL E G H	95	177	OMIM:609924	Aminoacylase 1 deficiency			13
HP:0012447	HP:0011400	Abnormal CNS myelination	1	ACY1 CL E G H	95	177	OMIM:609924	Aminoacylase 1 deficiency			13
HP:0012447	HP:0012448	Delayed myelination	1	ADAMTSL1 CL E G H	92949	14632	ORPHA:521445	Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome	HP:0040282 - Frequent
HP:0012447	HP:0007108	Demyelinating peripheral neuropathy	1	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		116
HP:0012447	HP:0011400	Abnormal CNS myelination	1	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome			116
HP:0012447	HP:0011400	Abnormal CNS myelination	1	ADAR CL E G H	103	225	OMIM:615010	Aicardi-Goutieres syndrome 6			116
HP:0012447	HP:0012448	Delayed myelination	1	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS			1
HP:0012447	HP:0011400	Abnormal CNS myelination	1	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS			1
HP:0012447	HP:0012448	Delayed myelination	1	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome	HP:0040283 - Occasional		9
HP:0012447	HP:0011400	Abnormal CNS myelination	1	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome			9
HP:0012447	HP:0012448	Delayed myelination	1	ADAT3 CL E G H	113179	25151	OMIM:615286	Mental retardation, autosomal recessive 36	.		9
HP:0012447	HP:0011400	Abnormal CNS myelination	1	ADAT3 CL E G H	113179	25151	OMIM:615286	Mental retardation, autosomal recessive 36			9
HP:0012447	HP:0011400	Abnormal CNS myelination	1	ADGRG1 CL E G H	9289	4512	ORPHA:101070	Bilateral frontoparietal polymicrogyria			88
HP:0012447	HP:0011400	Abnormal CNS myelination	1	ADGRG1 CL E G H	9289	4512	OMIM:606854	Polymicrogyria, bilateral frontoparietal			88
HP:0012447	HP:0011400	Abnormal CNS myelination	1	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency			118
HP:0012447	HP:0007108	Demyelinating peripheral neuropathy	1	AFG3L2 CL E G H	10939	315	ORPHA:313772	Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome	HP:0040282 - Frequent		86
HP:0012447	HP:0011400	Abnormal CNS myelination	1	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency			31
HP:0012447	HP:0012448	Delayed myelination	1	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency	HP:0040282 - Frequent		31
HP:0012447	HP:0012448	Delayed myelination	1	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome	HP:0040283 - Occasional		36
HP:0012447	HP:0012448	Delayed myelination	1	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome	.		36
HP:0012447	HP:0011400	Abnormal CNS myelination	1	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome			36
HP:0012447	HP:0011400	Abnormal CNS myelination	1	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration			60
HP:0012447	HP:0012448	Delayed myelination	1	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration			60
HP:0012447	HP:0011400	Abnormal CNS myelination	1	AIMP1 CL E G H	9255	10648	OMIM:260600	Leukodystrophy, hypomyelinating, 3			4
HP:0012447	HP:0011400	Abnormal CNS myelination	1	AIMP2 CL E G H	7965	20609	OMIM:618006	Leukodystrophy, hypomyelinating, 17			1
HP:0012447	HP:0011400	Abnormal CNS myelination	1	ALDH3A2 CL E G H	224	403	OMIM:270200	Sjogren-Larsson syndrome			87
HP:0012447	HP:0012448	Delayed myelination	1	ALDH5A1 CL E G H	7915	408	OMIM:271980	Succinic semialdehyde dehydrogenase deficiency			108
HP:0012447	HP:0011400	Abnormal CNS myelination	1	ALDH5A1 CL E G H	7915	408	OMIM:271980	Succinic semialdehyde dehydrogenase deficiency			108
HP:0012447	HP:0012448	Delayed myelination	1	ALDH6A1 CL E G H	4329	7179	OMIM:614105	Methylmalonate semialdehyde dehydrogenase deficiency	.		35
HP:0012447	HP:0011400	Abnormal CNS myelination	1	ALDH7A1 CL E G H	501	877	ORPHA:3006	Pyridoxine-dependent epilepsy			227
HP:0012447	HP:0012448	Delayed myelination	1	ALDH7A1 CL E G H	501	877	ORPHA:3006	Pyridoxine-dependent epilepsy			227
HP:0012447	HP:0012448	Delayed myelination	1	ALG11 CL E G H	440138	32456	ORPHA:280071	ALG11-CDG	HP:0040283 - Occasional		41
HP:0012447	HP:0012448	Delayed myelination	1	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040283 - Occasional		68
HP:0012447	HP:0012448	Delayed myelination	1	ALG13 CL E G H	79868	30881	OMIM:300884	Epileptic encephalopathy, early infantile, 36	.		96
HP:0012447	HP:0011400	Abnormal CNS myelination	1	ALG13 CL E G H	79868	30881	OMIM:300884	Epileptic encephalopathy, early infantile, 36			96
HP:0012447	HP:0011400	Abnormal CNS myelination	1	ALG14 CL E G H	199857	28287	OMIM:619031	INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES; IDDEBF			12
HP:0012447	HP:0012448	Delayed myelination	1	ALG14 CL E G H	199857	28287	OMIM:619031	INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES; IDDEBF			12
HP:0012447	HP:0011400	Abnormal CNS myelination	1	ALG14 CL E G H	199857	28287	OMIM:619036	MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA			12
HP:0012447	HP:0012448	Delayed myelination	1	ALG14 CL E G H	199857	28287	OMIM:619036	MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA			12
HP:0012447	HP:0011400	Abnormal CNS myelination	1	ALG2 CL E G H	85365	23159	ORPHA:79326	ALG2-CDG			46
HP:0012447	HP:0012448	Delayed myelination	1	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii			46
HP:0012447	HP:0011400	Abnormal CNS myelination	1	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii			46
HP:0012447	HP:0011400	Abnormal CNS myelination	1	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG			46
HP:0012447	HP:0012448	Delayed myelination	1	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional		93
HP:0012447	HP:0012448	Delayed myelination	1	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il			93
HP:0012447	HP:0011400	Abnormal CNS myelination	1	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il			93
HP:0012447	HP:0011400	Abnormal CNS myelination	1	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			114
HP:0012447	HP:0011400	Abnormal CNS myelination	1	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10			1
HP:0012447	HP:0012448	Delayed myelination	1	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10			1
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	APTX CL E G H	54840	15984	OMIM:208920	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia			61
HP:0012447	HP:0011400	Abnormal CNS myelination	1	ARF1 CL E G H	375	652	OMIM:618185	Periventricular nodular heterotopia 8
HP:0012447	HP:0012448	Delayed myelination	1	ARF1 CL E G H	375	652	OMIM:618185	Periventricular nodular heterotopia 8	.
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	ARHGEF10 CL E G H	9639	14103	OMIM:608236	Slowed nerve conduction velocity, autosomal dominant			12
HP:0012447	HP:0011400	Abnormal CNS myelination	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0012447	HP:0012448	Delayed myelination	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0012447	HP:0012448	Delayed myelination	1	ARNT2 CL E G H	9915	16876	OMIM:615926	Webb-Dattani syndrome	.
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	ARSA CL E G H	410	713	OMIM:250100	Metachromatic leukodystrophy			253
HP:0012447	HP:0011400	Abnormal CNS myelination	1	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form			253
HP:0012447	HP:0011400	Abnormal CNS myelination	1	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form			253
HP:0012447	HP:0011400	Abnormal CNS myelination	1	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form			253
HP:0012447	HP:0012448	Delayed myelination	1	ARX CL E G H	170302	18060	OMIM:308350	Developmental and epileptic encephalopathy 1			166
HP:0012447	HP:0011400	Abnormal CNS myelination	1	ARX CL E G H	170302	18060	OMIM:308350	Developmental and epileptic encephalopathy 1			166
HP:0012447	HP:0012448	Delayed myelination	1	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional		166
HP:0012447	HP:0012448	Delayed myelination	1	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0012447	HP:0011400	Abnormal CNS myelination	1	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0012447	HP:0012448	Delayed myelination	1	ASNS CL E G H	440	753	OMIM:615574	Asparagine synthetase deficiency	.		17
HP:0012447	HP:0011400	Abnormal CNS myelination	1	ASPA CL E G H	443	756	OMIM:271900	Canavan disease			48
HP:0012447	HP:0012448	Delayed myelination	1	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040283 - Occasional		145
HP:0012447	HP:0012448	Delayed myelination	1	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome			145
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome			145
HP:0012447	HP:0011400	Abnormal CNS myelination	1	ATP11A CL E G H	23250	13552	OMIM:619851	LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0012447	HP:0012448	Delayed myelination	1	ATP1A3 CL E G H	478	801	OMIM:619606	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99			150
HP:0012447	HP:0011400	Abnormal CNS myelination	1	ATP1A3 CL E G H	478	801	OMIM:619606	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99			150
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012447	HP:0007108	Demyelinating peripheral neuropathy	1	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0012447	HP:0011400	Abnormal CNS myelination	1	ATP6AP2 CL E G H	10159	18305	OMIM:300423	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH			36
HP:0012447	HP:0012448	Delayed myelination	1	ATP6AP2 CL E G H	10159	18305	OMIM:300423	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH			36
HP:0012447	HP:0011400	Abnormal CNS myelination	1	ATP6V1A CL E G H	523	851	OMIM:618012	Epileptic encephalopathy, infantile or early childhood, 3			3
HP:0012447	HP:0007327	Mixed demyelinating and axonal polyneuropathy	1	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease	.		315
HP:0012447	HP:0011400	Abnormal CNS myelination	1	ATXN2 CL E G H	6311	10555	ORPHA:98756	Spinocerebellar ataxia type 2			11
HP:0012447	HP:0007108	Demyelinating peripheral neuropathy	1	BAG3 CL E G H	9531	939	OMIM:612954	Myopathy, myofibrillar, 6	.		204
HP:0012447	HP:0011400	Abnormal CNS myelination	1	BCAP31 CL E G H	10134	16695	OMIM:300475	Deafness, dystonia, and cerebral hypomyelination			8
HP:0012447	HP:0011400	Abnormal CNS myelination	1	BCAP31 CL E G H	10134	16695	ORPHA:369939	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome			8
HP:0012447	HP:0011400	Abnormal CNS myelination	1	BCAS3 CL E G H	54828	14347	OMIM:619641	HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS			2
HP:0012447	HP:0012448	Delayed myelination	1	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1			72
HP:0012447	HP:0011400	Abnormal CNS myelination	1	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1			72
HP:0012447	HP:0011400	Abnormal CNS myelination	1	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6			38
HP:0012447	HP:0012448	Delayed myelination	1	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6			38
HP:0012447	HP:0011400	Abnormal CNS myelination	1	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia			14
HP:0012447	HP:0011400	Abnormal CNS myelination	1	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal			20
HP:0012447	HP:0012448	Delayed myelination	1	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal	HP:0040283 - Occasional		20
HP:0012447	HP:0012448	Delayed myelination	1	C18ORF32 CL E G H	497661	31690	OMIM:619985
HP:0012447	HP:0011400	Abnormal CNS myelination	1	C18ORF32 CL E G H	497661	31690	OMIM:619985
HP:0012447	HP:0011400	Abnormal CNS myelination	1	C2ORF69 CL E G H	205327	26799	OMIM:619423	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53
HP:0012447	HP:0011400	Abnormal CNS myelination	1	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0012447	HP:0012448	Delayed myelination	1	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0012447	HP:0011400	Abnormal CNS myelination	1	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0012447	HP:0012448	Delayed myelination	1	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional		118
HP:0012447	HP:0012448	Delayed myelination	1	CDC40 CL E G H	51362	17350	OMIM:619302	PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0012447	HP:0011400	Abnormal CNS myelination	1	CDC40 CL E G H	51362	17350	OMIM:619302	PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0012447	HP:0012448	Delayed myelination	1	CDK19 CL E G H	23097	19338	OMIM:618916	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87
HP:0012447	HP:0011400	Abnormal CNS myelination	1	CDK19 CL E G H	23097	19338	OMIM:618916	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87
HP:0012447	HP:0012448	Delayed myelination	1	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional		405
HP:0012447	HP:0012448	Delayed myelination	1	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40			16
HP:0012447	HP:0011400	Abnormal CNS myelination	1	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40			16
HP:0012447	HP:0011400	Abnormal CNS myelination	1	CHKA CL E G H	1119	1937	OMIM:620023
HP:0012447	HP:0011400	Abnormal CNS myelination	1	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0012447	HP:0012448	Delayed myelination	1	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0012447	HP:0012448	Delayed myelination	1	CLCN3 CL E G H	1182	2021	OMIM:619517	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA			2
HP:0012447	HP:0011400	Abnormal CNS myelination	1	CLCN3 CL E G H	1182	2021	OMIM:619517	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA			2
HP:0012447	HP:0012448	Delayed myelination	1	CLCN4 CL E G H	1183	2022	ORPHA:485350	CLCN4-related X-linked intellectual disability syndrome	HP:0040283 - Occasional		45
HP:0012447	HP:0012448	Delayed myelination	1	CLCN7 CL E G H	1186	2025	OMIM:618541	Hypopigmentation, organomegaly, and delayed myelination and development			102
HP:0012447	HP:0011400	Abnormal CNS myelination	1	CLCN7 CL E G H	1186	2025	OMIM:618541	Hypopigmentation, organomegaly, and delayed myelination and development			102
HP:0012447	HP:0011400	Abnormal CNS myelination	1	CLDN11 CL E G H	5010	8514	OMIM:619328	Leukodystrophy, hypomyelinating, 22
HP:0012447	HP:0012448	Delayed myelination	1	CLP1 CL E G H	10978	16999	OMIM:615803	Pontocerebellar hypoplasia, type 10	.		7
HP:0012447	HP:0012448	Delayed myelination	1	CLPB CL E G H	81570	30664	OMIM:619835	3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA; MGCA7A			38
HP:0012447	HP:0011400	Abnormal CNS myelination	1	CLPB CL E G H	81570	30664	OMIM:619835	3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA; MGCA7A			38
HP:0012447	HP:0011400	Abnormal CNS myelination	1	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56			1
HP:0012447	HP:0012448	Delayed myelination	1	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56			1
HP:0012447	HP:0012448	Delayed myelination	1	CLTCL1 CL E G H	8218	2093	ORPHA:453510	Congenital insensitivity to pain with severe intellectual disability			6
HP:0012447	HP:0011400	Abnormal CNS myelination	1	CLTCL1 CL E G H	8218	2093	ORPHA:453510	Congenital insensitivity to pain with severe intellectual disability			6
HP:0012447	HP:0011400	Abnormal CNS myelination	1	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0012447	HP:0012448	Delayed myelination	1	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0012447	HP:0011400	Abnormal CNS myelination	1	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3			9
HP:0012447	HP:0011400	Abnormal CNS myelination	1	COA8 CL E G H	84334	20492	OMIM:619061	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17; MC4DN17
HP:0012447	HP:0012448	Delayed myelination	1	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG	HP:0040283 - Occasional		79
HP:0012447	HP:0012448	Delayed myelination	1	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe	.		64
HP:0012447	HP:0012448	Delayed myelination	1	COPB2 CL E G H	9276	2232	OMIM:619884
HP:0012447	HP:0011400	Abnormal CNS myelination	1	COPB2 CL E G H	9276	2232	OMIM:619884
HP:0012447	HP:0012448	Delayed myelination	1	COPB2 CL E G H	9276	2232	OMIM:617800	Microcephaly 19, primary, autosomal recessive	.
HP:0012447	HP:0011400	Abnormal CNS myelination	1	COPB2 CL E G H	9276	2232	OMIM:617800	Microcephaly 19, primary, autosomal recessive
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	COQ7 CL E G H	10229	2244	OMIM:616733	Coenzyme Q10 deficiency, primary, 8			1
HP:0012447	HP:0007327	Mixed demyelinating and axonal polyneuropathy	1	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012447	HP:0011400	Abnormal CNS myelination	1	COX14 CL E G H	84987	28216	OMIM:619053	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10; MC4DN10			4
HP:0012447	HP:0011400	Abnormal CNS myelination	1	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy			104
HP:0012447	HP:0007327	Mixed demyelinating and axonal polyneuropathy	1	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012447	HP:0007327	Mixed demyelinating and axonal polyneuropathy	1	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	COX6A1 CL E G H	1337	2277	OMIM:616039	Charcot-Marie-Tooth disease, recessive intermediate D			4
HP:0012447	HP:0011400	Abnormal CNS myelination	1	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7			10
HP:0012447	HP:0012448	Delayed myelination	1	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2	HP:0040283 - Occasional		6
HP:0012447	HP:0012448	Delayed myelination	1	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040283 - Occasional		291
HP:0012447	HP:0011400	Abnormal CNS myelination	1	CSF1R CL E G H	1436	2433	OMIM:221820	Leukoencephalopathy, diffuse hereditary, with spheroids			149
HP:0012447	HP:0011400	Abnormal CNS myelination	1	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts			160
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	CTDP1 CL E G H	9150	2498	OMIM:604168	Congenital cataracts, facial dysmorphism, and neuropathy			17
HP:0012447	HP:0011400	Abnormal CNS myelination	1	CTNNB1 CL E G H	1499	2514	ORPHA:404473	Severe intellectual disability-progressive spastic diplegia syndrome			88
HP:0012447	HP:0012448	Delayed myelination	1	CTNNB1 CL E G H	1499	2514	ORPHA:404473	Severe intellectual disability-progressive spastic diplegia syndrome			88
HP:0012447	HP:0011400	Abnormal CNS myelination	1	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis			39
HP:0012447	HP:0012448	Delayed myelination	1	CUL3 CL E G H	8452	2553	OMIM:619239	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS			92
HP:0012447	HP:0011400	Abnormal CNS myelination	1	CUL3 CL E G H	8452	2553	OMIM:619239	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS			92
HP:0012447	HP:0011400	Abnormal CNS myelination	1	CYB5A CL E G H	1528	2570	ORPHA:621	Hereditary methemoglobinemia			2
HP:0012447	HP:0012448	Delayed myelination	1	CYB5A CL E G H	1528	2570	ORPHA:621	Hereditary methemoglobinemia	HP:0040284 - Very rare		2
HP:0012447	HP:0012448	Delayed myelination	1	CYB5R3 CL E G H	1727	2873	ORPHA:621	Hereditary methemoglobinemia	HP:0040284 - Very rare		24
HP:0012447	HP:0011400	Abnormal CNS myelination	1	CYB5R3 CL E G H	1727	2873	ORPHA:621	Hereditary methemoglobinemia			24
HP:0012447	HP:0011400	Abnormal CNS myelination	1	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis			114
HP:0012447	HP:0007922	Hypermyelinated retinal nerve fibers	1	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040283 - Occasional		114
HP:0012447	HP:0012448	Delayed myelination	1	D2HGDH CL E G H	728294	28358	OMIM:600721	D-2-Hydroxyglutaric aciduria 1			102
HP:0012447	HP:0011400	Abnormal CNS myelination	1	D2HGDH CL E G H	728294	28358	OMIM:600721	D-2-Hydroxyglutaric aciduria 1			102
HP:0012447	HP:0011400	Abnormal CNS myelination	1	DAG1 CL E G H	1605	2666	ORPHA:370997	Muscle-eye-brain disease with bilateral multicystic leucodystrophy			108
HP:0012447	HP:0011400	Abnormal CNS myelination	1	DAG1 CL E G H	1605	2666	OMIM:616538	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9			108
HP:0012447	HP:0011400	Abnormal CNS myelination	1	DALRD3 CL E G H	55152	25536	OMIM:618910	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86; DEE86
HP:0012447	HP:0011400	Abnormal CNS myelination	1	DARS1 CL E G H	1615	2678	OMIM:615281	HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0012447	HP:0011400	Abnormal CNS myelination	1	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome			60
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	DCAF8 CL E G H	50717	24891	OMIM:610100	Giant axonal neuropathy, autosomal dominant			2
HP:0012447	HP:0012448	Delayed myelination	1	DCX CL E G H	1641	2714	ORPHA:2148	Lissencephaly type 1 due to doublecortin gene mutation	HP:0040283 - Occasional		145
HP:0012447	HP:0011400	Abnormal CNS myelination	1	DDOST CL E G H	1650	2728	ORPHA:300536	DDOST-CDG			62
HP:0012447	HP:0012448	Delayed myelination	1	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0012447	HP:0011400	Abnormal CNS myelination	1	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0012447	HP:0007108	Demyelinating peripheral neuropathy	1	DEGS1 CL E G H	8560	13709	OMIM:618404	Leukodystrophy, hypomyelinating, 18	HP:0040284 - Very rare
HP:0012447	HP:0012448	Delayed myelination	1	DHFR CL E G H	1719	2861	OMIM:613839	Megaloblastic anemia due to dihydrofolate reductase deficiency	.		7
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	DHH CL E G H	50846	2865	OMIM:607080	46,XY GONADAL DYSGENESIS, PARTIAL, WITH MINIFASCICULAR NEUROPATHY			21
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	DHH CL E G H	50846	2865	ORPHA:168563	46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome	HP:0040281 - Very frequent		21
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0012447	HP:0012448	Delayed myelination	1	DHX30 CL E G H	22907	16716	OMIM:617804	Neurodevelopmental disorder with severe motor impairment and absent language	.		4
HP:0012447	HP:0011400	Abnormal CNS myelination	1	DHX37 CL E G H	57647	17210	OMIM:618731	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC			2
HP:0012447	HP:0012448	Delayed myelination	1	DHX37 CL E G H	57647	17210	OMIM:618731	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC			2
HP:0012447	HP:0012448	Delayed myelination	1	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional		3
HP:0012447	HP:0007108	Demyelinating peripheral neuropathy	1	DMXL2 CL E G H	23312	2938	ORPHA:453533	Polyendocrine-polyneuropathy syndrome	HP:0040282 - Frequent		3
HP:0012447	HP:0007108	Demyelinating peripheral neuropathy	1	DNAJC3 CL E G H	5611	9439	ORPHA:445062	Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome	HP:0040282 - Frequent		3
HP:0012447	HP:0011400	Abnormal CNS myelination	1	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1			94
HP:0012447	HP:0012448	Delayed myelination	1	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1			94
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	DNM2 CL E G H	1785	2974	OMIM:606482	Charcot-Marie-Tooth disease, dominant intermediate B			167
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	DNMT1 CL E G H	1786	2976	OMIM:614116	Neuropathy, hereditary sensory, type IE			145
HP:0012447	HP:0012448	Delayed myelination	1	DOHH CL E G H	83475	28662	OMIM:620066
HP:0012447	HP:0011400	Abnormal CNS myelination	1	DOHH CL E G H	83475	28662	OMIM:620066
HP:0012447	HP:0011400	Abnormal CNS myelination	1	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG			38
HP:0012447	HP:0012448	Delayed myelination	1	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG	HP:0040282 - Frequent		27
HP:0012447	HP:0011400	Abnormal CNS myelination	1	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion			134
HP:0012447	HP:0011400	Abnormal CNS myelination	1	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy			33
HP:0012447	HP:0011400	Abnormal CNS myelination	1	EDNRB CL E G H	1910	3180	OMIM:277580	Waardenburg-Shah syndrome			55
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	EGR2 CL E G H	1959	3239	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			58
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	EGR2 CL E G H	1959	3239	OMIM:605253	Neuropathy, congenital hypomyelinating, 1, autosomal recessive			58
HP:0012447	HP:0012448	Delayed myelination	1	EIF2AK2 CL E G H	5610	9437	OMIM:618877	LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0012447	HP:0011400	Abnormal CNS myelination	1	EIF2AK2 CL E G H	5610	9437	OMIM:618877	LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0012447	HP:0011400	Abnormal CNS myelination	1	EIF2B1 CL E G H	1967	3257	OMIM:603896	Leukoencephalopathy with vanishing white matter			42
HP:0012447	HP:0011400	Abnormal CNS myelination	1	EIF2B2 CL E G H	8892	3258	OMIM:603896	Leukoencephalopathy with vanishing white matter			24
HP:0012447	HP:0011400	Abnormal CNS myelination	1	EIF2B3 CL E G H	8891	3259	OMIM:603896	Leukoencephalopathy with vanishing white matter			32
HP:0012447	HP:0011400	Abnormal CNS myelination	1	EIF2B4 CL E G H	8890	3260	OMIM:603896	Leukoencephalopathy with vanishing white matter			38
HP:0012447	HP:0011400	Abnormal CNS myelination	1	EIF2B5 CL E G H	8893	3261	OMIM:603896	Leukoencephalopathy with vanishing white matter			48
HP:0012447	HP:0011400	Abnormal CNS myelination	1	ELOVL1 CL E G H	64834	14418	OMIM:618527	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0012447	HP:0012448	Delayed myelination	1	ELOVL4 CL E G H	6785	14415	OMIM:614457	Ichthyosis, spastic quadriplegia, and mental retardation	HP:0040283 - Occasional		62
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	ELP1 CL E G H	8518	5959	OMIM:223900	Neuropathy, hereditary sensory and autonomic, type III			133
HP:0012447	HP:0012448	Delayed myelination	1	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040283 - Occasional		250
HP:0012447	HP:0011400	Abnormal CNS myelination	1	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15
HP:0012447	HP:0011400	Abnormal CNS myelination	1	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2			20
HP:0012447	HP:0011400	Abnormal CNS myelination	1	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy			106
HP:0012447	HP:0007108	Demyelinating peripheral neuropathy	1	ERCC2 CL E G H	2068	3434	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040282 - Frequent		106
HP:0012447	HP:0011400	Abnormal CNS myelination	1	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy			54
HP:0012447	HP:0011400	Abnormal CNS myelination	1	ERCC3 CL E G H	2071	3435	OMIM:610651	Xeroderma pigmentosum, complementation group B	.		54
HP:0012447	HP:0007108	Demyelinating peripheral neuropathy	1	ERCC3 CL E G H	2071	3435	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040282 - Frequent		54
HP:0012447	HP:0007108	Demyelinating peripheral neuropathy	1	ERCC4 CL E G H	2072	3436	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040282 - Frequent		158
HP:0012447	HP:0007108	Demyelinating peripheral neuropathy	1	ERCC5 CL E G H	2073	3437	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040282 - Frequent		83
HP:0012447	HP:0012448	Delayed myelination	1	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1	.		199
HP:0012447	HP:0011400	Abnormal CNS myelination	1	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1			199
HP:0012447	HP:0011400	Abnormal CNS myelination	1	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2			199
HP:0012447	HP:0007108	Demyelinating peripheral neuropathy	1	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040282 - Frequent		199
HP:0012447	HP:0011400	Abnormal CNS myelination	1	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B			199
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B			199
HP:0012447	HP:0011400	Abnormal CNS myelination	1	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome			199
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A	.		55
HP:0012447	HP:0011400	Abnormal CNS myelination	1	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A			55
HP:0012447	HP:0011400	Abnormal CNS myelination	1	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2			55
HP:0012447	HP:0007108	Demyelinating peripheral neuropathy	1	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040282 - Frequent		55
HP:0012447	HP:0011400	Abnormal CNS myelination	1	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH			1
HP:0012447	HP:0011400	Abnormal CNS myelination	1	EXOC8 CL E G H	149371	24659	OMIM:619076	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY; NEDMISB			1
HP:0012447	HP:0012448	Delayed myelination	1	EXOC8 CL E G H	149371	24659	OMIM:619076	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY; NEDMISB			1
HP:0012447	HP:0012448	Delayed myelination	1	EXOSC1 CL E G H	51013	17286	OMIM:619304	PONTOCEREBELLAR HYPOPLASIA, TYPE 1F; PCH1F
HP:0012447	HP:0011400	Abnormal CNS myelination	1	EXOSC1 CL E G H	51013	17286	OMIM:619304	PONTOCEREBELLAR HYPOPLASIA, TYPE 1F; PCH1F
HP:0012447	HP:0012448	Delayed myelination	1	EXOSC2 CL E G H	23404	17097	OMIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies	.
HP:0012447	HP:0011400	Abnormal CNS myelination	1	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0012447	HP:0012448	Delayed myelination	1	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome			81
HP:0012447	HP:0011400	Abnormal CNS myelination	1	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome			81
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35			76
HP:0012447	HP:0011400	Abnormal CNS myelination	1	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive			76
HP:0012447	HP:0011400	Abnormal CNS myelination	1	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB			58
HP:0012447	HP:0012448	Delayed myelination	1	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB			58
HP:0012447	HP:0011400	Abnormal CNS myelination	1	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L			53
HP:0012447	HP:0012448	Delayed myelination	1	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L			53
HP:0012447	HP:0012448	Delayed myelination	1	FAR1 CL E G H	84188	26222	OMIM:616154	PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD			7
HP:0012447	HP:0011400	Abnormal CNS myelination	1	FAR1 CL E G H	84188	26222	OMIM:616154	PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD			7
HP:0012447	HP:0011400	Abnormal CNS myelination	1	FBP2 CL E G H	8789	3607	OMIM:619864
HP:0012447	HP:0012448	Delayed myelination	1	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	.		384
HP:0012447	HP:0011400	Abnormal CNS myelination	1	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)			384
HP:0012447	HP:0012448	Delayed myelination	1	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0012447	HP:0011400	Abnormal CNS myelination	1	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0012447	HP:0012448	Delayed myelination	1	FCSK CL E G H	197258	29500	OMIM:618324	Congenital disorder of glycosylation with defective fucosylation 2
HP:0012447	HP:0011400	Abnormal CNS myelination	1	FCSK CL E G H	197258	29500	OMIM:618324	Congenital disorder of glycosylation with defective fucosylation 2
HP:0012447	HP:0012448	Delayed myelination	1	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome	HP:0040283 - Occasional
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	FGD4 CL E G H	121512	19125	OMIM:609311	Charcot-marie-tooth disease, type 4H			158
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	FIG4 CL E G H	9896	16873	OMIM:611228	Charcot-Marie-Tooth disease, type 4J			111
HP:0012447	HP:0012448	Delayed myelination	1	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome	.		332
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	FLRT1 CL E G H	23769	3760	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa			111
HP:0012447	HP:0012448	Delayed myelination	1	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0012447	HP:0011400	Abnormal CNS myelination	1	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0012447	HP:0012448	Delayed myelination	1	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant	.		177
HP:0012447	HP:0012448	Delayed myelination	1	FOXP1 CL E G H	27086	3823	OMIM:613670	Mental retardation with language impairment and with or without autistic features			184
HP:0012447	HP:0011400	Abnormal CNS myelination	1	FOXP1 CL E G H	27086	3823	OMIM:613670	Mental retardation with language impairment and with or without autistic features			184
HP:0012447	HP:0011400	Abnormal CNS myelination	1	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency			61
HP:0012447	HP:0011400	Abnormal CNS myelination	1	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy			61
HP:0012447	HP:0012448	Delayed myelination	1	FOXRED1 CL E G H	55572	26927	OMIM:618241	Mitochondrial complex I deficiency, nuclear type 19	.		61
HP:0012447	HP:0012448	Delayed myelination	1	FRMD5 CL E G H	84978	28214	OMIM:620094
HP:0012447	HP:0011400	Abnormal CNS myelination	1	FRMD5 CL E G H	84978	28214	OMIM:620094
HP:0012447	HP:0012448	Delayed myelination	1	FRMPD4 CL E G H	9758	29007	OMIM:300983	MENTAL RETARDATION, X-LINKED 104; MRX104			32
HP:0012447	HP:0011400	Abnormal CNS myelination	1	FRMPD4 CL E G H	9758	29007	OMIM:300983	MENTAL RETARDATION, X-LINKED 104; MRX104			32
HP:0012447	HP:0011400	Abnormal CNS myelination	1	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			105
HP:0012447	HP:0011400	Abnormal CNS myelination	1	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II	.		407
HP:0012447	HP:0011400	Abnormal CNS myelination	1	GABRA2 CL E G H	2555	4076	OMIM:618557	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 78; DEE78			4
HP:0012447	HP:0011400	Abnormal CNS myelination	1	GABRA5 CL E G H	2558	4079	OMIM:618559	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79; DEE79
HP:0012447	HP:0011400	Abnormal CNS myelination	1	GALC CL E G H	2581	4115	ORPHA:206448	Adult Krabbe disease			160
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	GALC CL E G H	2581	4115	ORPHA:206448	Adult Krabbe disease			160
HP:0012447	HP:0011400	Abnormal CNS myelination	1	GALC CL E G H	2581	4115	OMIM:245200	Krabbe disease			160
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	GALC CL E G H	2581	4115	OMIM:245200	Krabbe disease			160
HP:0012447	HP:0011400	Abnormal CNS myelination	1	GALC CL E G H	2581	4115	ORPHA:206443	Late-infantile/juvenile Krabbe disease	HP:0040282 - Frequent		160
HP:0012447	HP:0011400	Abnormal CNS myelination	1	GAN CL E G H	8139	4137	ORPHA:643	Giant axonal neuropathy			121
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive			121
HP:0012447	HP:0012448	Delayed myelination	1	GATAD2B CL E G H	57459	30778	ORPHA:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	HP:0040282 - Frequent		33
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	GBF1 CL E G H	8729	4181	OMIM:606483	Charcot-Marie-Tooth disease, dominant intermediate A
HP:0012447	HP:0012448	Delayed myelination	1	GCDH CL E G H	2639	4189	OMIM:231670	Glutaric acidemia I	.		115
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	GCDH CL E G H	2639	4189	OMIM:231670	Glutaric acidemia I			115
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	GDAP1 CL E G H	54332	15968	ORPHA:99944	Autosomal dominant Charcot-Marie-Tooth disease type 2K			108
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	GDAP1 CL E G H	54332	15968	ORPHA:101097	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness			108
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A			108
HP:0012447	HP:0007108	Demyelinating peripheral neuropathy	1	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A			108
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	GDAP1 CL E G H	54332	15968	OMIM:607831	Charcot-Marie-Tooth disease, axonal, type 2K			108
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	GDAP1 CL E G H	54332	15968	OMIM:607706	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive			108
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	GDAP1 CL E G H	54332	15968	OMIM:608340	Charcot-Marie-Tooth disease, recessive intermediate A			108
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	GDAP1 CL E G H	54332	15968	OMIM:214400	Charcot-Marie-Tooth disease, type 4A			108
HP:0012447	HP:0011400	Abnormal CNS myelination	1	GDAP1 CL E G H	54332	15968	OMIM:214400	Charcot-Marie-Tooth disease, type 4A			108
HP:0012447	HP:0012448	Delayed myelination	1	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities	.		1
HP:0012447	HP:0011400	Abnormal CNS myelination	1	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities			1
HP:0012447	HP:0011400	Abnormal CNS myelination	1	GFAP CL E G H	2670	4235	OMIM:203450	Alexander disease			188
HP:0012447	HP:0012448	Delayed myelination	1	GFM1 CL E G H	85476	13780	OMIM:609060	Combined oxidative phosphorylation deficiency 1	.		85
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1			107
HP:0012447	HP:0011400	Abnormal CNS myelination	1	GJC2 CL E G H	57165	17494	ORPHA:320401	Autosomal recessive spastic paraplegia type 44			37
HP:0012447	HP:0007108	Demyelinating peripheral neuropathy	1	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2			37
HP:0012447	HP:0011400	Abnormal CNS myelination	1	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2			37
HP:0012447	HP:0011400	Abnormal CNS myelination	1	GLRX5 CL E G H	51218	20134	ORPHA:401866	Childhood-onset spasticity with hyperglycinemia			17
HP:0012447	HP:0011400	Abnormal CNS myelination	1	GLRX5 CL E G H	51218	20134	OMIM:616859	Spasticity, childhood-onset, with hyperglycinemia			17
HP:0012447	HP:0011400	Abnormal CNS myelination	1	GLS CL E G H	2744	4331	OMIM:618339	Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development
HP:0012447	HP:0012448	Delayed myelination	1	GLS CL E G H	2744	4331	OMIM:618339	Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development	.
HP:0012447	HP:0011400	Abnormal CNS myelination	1	GLUL CL E G H	2752	4341	OMIM:610015	GLUTAMINE DEFICIENCY, CONGENITAL			98
HP:0012447	HP:0012448	Delayed myelination	1	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA	.		6
HP:0012447	HP:0011400	Abnormal CNS myelination	1	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA			6
HP:0012447	HP:0012448	Delayed myelination	1	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6	.		3
HP:0012447	HP:0012448	Delayed myelination	1	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional		36
HP:0012447	HP:0012448	Delayed myelination	1	GNAO1 CL E G H	2775	4389	OMIM:615473	Epileptic encephalopathy, early infantile, 17	.		36
HP:0012447	HP:0012448	Delayed myelination	1	GNB1 CL E G H	2782	4396	ORPHA:488613	Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome	HP:0040284 - Very rare		12
HP:0012447	HP:0012448	Delayed myelination	1	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0012447	HP:0011400	Abnormal CNS myelination	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0012447	HP:0012448	Delayed myelination	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	GNB4 CL E G H	59345	20731	OMIM:615185	Charcot-Marie-Tooth disease, dominant intermediate F			12
HP:0012447	HP:0011400	Abnormal CNS myelination	1	GPT2 CL E G H	84706	18062	ORPHA:477673	Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome	HP:0040283 - Occasional		4
HP:0012447	HP:0012448	Delayed myelination	1	GRIK2 CL E G H	2898	4580	OMIM:619580	NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS			32
HP:0012447	HP:0011400	Abnormal CNS myelination	1	GRIK2 CL E G H	2898	4580	OMIM:619580	NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS			32
HP:0012447	HP:0012448	Delayed myelination	1	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional		108
HP:0012447	HP:0012448	Delayed myelination	1	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional		5
HP:0012447	HP:0011400	Abnormal CNS myelination	1	GRM7 CL E G H	2917	4599	OMIM:618922	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA			5
HP:0012447	HP:0011400	Abnormal CNS myelination	1	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy			2
HP:0012447	HP:0011400	Abnormal CNS myelination	1	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy			3
HP:0012447	HP:0011400	Abnormal CNS myelination	1	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive			3
HP:0012447	HP:0012448	Delayed myelination	1	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive			3
HP:0012447	HP:0011400	Abnormal CNS myelination	1	GTPBP3 CL E G H	84705	14880	ORPHA:444013	Combined oxidative phosphorylation defect type 23			30
HP:0012447	HP:0011400	Abnormal CNS myelination	1	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0012447	HP:0012448	Delayed myelination	1	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0012447	HP:0012448	Delayed myelination	1	HACE1 CL E G H	57531	21033	OMIM:616756	Spastic paraplegia and psychomotor retardation with or without seizures	HP:0040283 - Occasional		10
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome			10
HP:0012447	HP:0012448	Delayed myelination	1	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome			10
HP:0012447	HP:0007108	Demyelinating peripheral neuropathy	1	HARS1 CL E G H	3035	4816	ORPHA:488333	Autosomal dominant Charcot-Marie-Tooth disease type 2W	HP:0040281 - Very frequent
HP:0012447	HP:0011400	Abnormal CNS myelination	1	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease			80
HP:0012447	HP:0011400	Abnormal CNS myelination	1	HEXB CL E G H	3074	4879	ORPHA:309155	Sandhoff disease, infantile form			80
HP:0012447	HP:0011400	Abnormal CNS myelination	1	HIKESHI CL E G H	51501	26938	OMIM:616881	Leukodystrophy, hypomyelinating, 13			3
HP:0012447	HP:0012448	Delayed myelination	1	HIKESHI CL E G H	51501	26938	OMIM:616881	Leukodystrophy, hypomyelinating, 13	.		3
HP:0012447	HP:0007108	Demyelinating peripheral neuropathy	1	HK1 CL E G H	3098	4922	ORPHA:99953	Charcot-Marie-Tooth disease type 4G	HP:0040281 - Very frequent		11
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	HK1 CL E G H	3098	4922	ORPHA:99953	Charcot-Marie-Tooth disease type 4G			11
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	HK1 CL E G H	3098	4922	OMIM:605285	Neuropathy, hereditary motor and sensory, Russe type			11
HP:0012447	HP:0011400	Abnormal CNS myelination	1	HLA-DQB1 CL E G H	3119	4944	OMIM:126200	Multiple sclerosis, susceptibility to
HP:0012447	HP:0011400	Abnormal CNS myelination	1	HLA-DRB1 CL E G H	3123	4948	OMIM:126200	Multiple sclerosis, susceptibility to			2
HP:0012447	HP:0012448	Delayed myelination	1	HNRNPU CL E G H	3192	5048	OMIM:617391	Epileptic encephalopathy, early infantile, 54	.		39
HP:0012447	HP:0012448	Delayed myelination	1	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0012447	HP:0011400	Abnormal CNS myelination	1	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0012447	HP:0011400	Abnormal CNS myelination	1	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency			98
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	HSPB8 CL E G H	26353	30171	OMIM:608673	Charcot-Marie-Tooth disease, axonal, type 2L			38
HP:0012447	HP:0011400	Abnormal CNS myelination	1	HSPD1 CL E G H	3329	5261	OMIM:612233	Leukodystrophy, hypomyelinating, 4			46
HP:0012447	HP:0011400	Abnormal CNS myelination	1	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)			34
HP:0012447	HP:0011400	Abnormal CNS myelination	1	HYCC1 CL E G H	84668	24587	ORPHA:85163	Hypomyelination-congenital cataract syndrome
HP:0012447	HP:0011400	Abnormal CNS myelination	1	HYCC1 CL E G H	84668	24587	OMIM:610532	Leukodystrophy, hypomyelinating, 5
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	HYCC1 CL E G H	84668	24587	OMIM:610532	Leukodystrophy, hypomyelinating, 5
HP:0012447	HP:0011400	Abnormal CNS myelination	1	IBA57 CL E G H	200205	27302	OMIM:615330	Multiple mitochondrial dysfunctions syndrome 3			16
HP:0012447	HP:0012448	Delayed myelination	1	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria			15
HP:0012447	HP:0011400	Abnormal CNS myelination	1	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome	.		115
HP:0012447	HP:0012448	Delayed myelination	1	IER3IP1 CL E G H	51124	18550	OMIM:614231	Microcephaly, epilepsy, and diabetes syndrome	.		6
HP:0012447	HP:0007108	Demyelinating peripheral neuropathy	1	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		28
HP:0012447	HP:0011400	Abnormal CNS myelination	1	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome			28
HP:0012447	HP:0012448	Delayed myelination	1	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7			28
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	INF2 CL E G H	64423	23791	OMIM:614455	Charcot-Marie-Tooth disease, dominant intermediate E			135
HP:0012447	HP:0011400	Abnormal CNS myelination	1	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome			229
HP:0012447	HP:0011400	Abnormal CNS myelination	1	INTU CL E G H	27152	29239	OMIM:617926	OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0012447	HP:0012448	Delayed myelination	1	IREB2 CL E G H	3658	6115	OMIM:618451	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia	.
HP:0012447	HP:0012448	Delayed myelination	1	ISCA1 CL E G H	81689	28660	OMIM:617613	Multiple mitochondrial dysfunctions syndrome 5	.		1
HP:0012447	HP:0011400	Abnormal CNS myelination	1	ISCA1 CL E G H	81689	28660	OMIM:617613	Multiple mitochondrial dysfunctions syndrome 5			1
HP:0012447	HP:0011400	Abnormal CNS myelination	1	ISCA2 CL E G H	122961	19857	OMIM:616370	Multiple mitochondrial dysfunctions syndrome 4			7
HP:0012447	HP:0012448	Delayed myelination	1	ITPA CL E G H	3704	6176	OMIM:616647	Epileptic encephalopathy, early infantile, 35			8
HP:0012447	HP:0011400	Abnormal CNS myelination	1	ITPA CL E G H	3704	6176	OMIM:616647	Epileptic encephalopathy, early infantile, 35			8
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	JPH1 CL E G H	56704	14201	OMIM:607831	Charcot-Marie-Tooth disease, axonal, type 2K			1
HP:0012447	HP:0011400	Abnormal CNS myelination	1	KARS1 CL E G H	3735	6215	OMIM:619196	DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY; DEAPLE
HP:0012447	HP:0012448	Delayed myelination	1	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional		145
HP:0012447	HP:0012448	Delayed myelination	1	KCNC2 CL E G H	3747	6234	OMIM:619913
HP:0012447	HP:0011400	Abnormal CNS myelination	1	KCNC2 CL E G H	3747	6234	OMIM:619913
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	KCNJ10 CL E G H	3766	6256	ORPHA:199343	EAST syndrome			121
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	KCNJ10 CL E G H	3766	6256	OMIM:612780	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance			121
HP:0012447	HP:0011400	Abnormal CNS myelination	1	KCNN2 CL E G H	3781	6291	OMIM:619725	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0012447	HP:0012448	Delayed myelination	1	KCNN2 CL E G H	3781	6291	OMIM:619725	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0012447	HP:0012448	Delayed myelination	1	KCNT1 CL E G H	57582	18865	OMIM:614959	Epileptic encephalopathy, early infantile, 14	.		321
HP:0012447	HP:0011400	Abnormal CNS myelination	1	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features			3
HP:0012447	HP:0012448	Delayed myelination	1	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features			3
HP:0012447	HP:0012448	Delayed myelination	1	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	HP:0040283 - Occasional		3
HP:0012447	HP:0011400	Abnormal CNS myelination	1	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO			4
HP:0012447	HP:0012448	Delayed myelination	1	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO			4
HP:0012447	HP:0011400	Abnormal CNS myelination	1	KIDINS220 CL E G H	57498	29508	ORPHA:521390	Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome	HP:0040282 - Frequent		4
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	KIF1A CL E G H	547	888	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II			276
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	KIF1B CL E G H	23095	16636	OMIM:118210	Charcot-Marie-Tooth disease, axonal, type 2A1			202
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	KIF1C CL E G H	10749	6317	ORPHA:397946	Autosomal spastic paraplegia type 58			38
HP:0012447	HP:0012448	Delayed myelination	1	KIF5A CL E G H	3798	6323	OMIM:617235	Myoclonus, intractable, neonatal	.		93
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	KLC2 CL E G H	64837	20716	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome			1
HP:0012447	HP:0012448	Delayed myelination	1	KMT2E CL E G H	55904	18541	OMIM:618512	O'donnell-Luria-Rodan syndrome	.		1
HP:0012447	HP:0011400	Abnormal CNS myelination	1	L2HGDH CL E G H	79944	20499	OMIM:236792	L-2-Hydroxyglutaric aciduria			34
HP:0012447	HP:0011400	Abnormal CNS myelination	1	LEMD2 CL E G H	221496	21244	OMIM:619322	MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS			1
HP:0012447	HP:0011400	Abnormal CNS myelination	1	LIAS CL E G H	11019	16429	OMIM:614462	Hyperglycinemia, lactic acidosis, and seizures			31
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			1
HP:0012447	HP:0007108	Demyelinating peripheral neuropathy	1	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent		1
HP:0012447	HP:0011400	Abnormal CNS myelination	1	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy			21
HP:0012447	HP:0011400	Abnormal CNS myelination	1	LIPT1 CL E G H	51601	29569	OMIM:616299	Lipoyltransferase 1 deficiency			21
HP:0012447	HP:0012448	Delayed myelination	1	LIPT1 CL E G H	51601	29569	OMIM:616299	Lipoyltransferase 1 deficiency	.		21
HP:0012447	HP:0011400	Abnormal CNS myelination	1	LIPT2 CL E G H	387787	37216	OMIM:617668	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities			2
HP:0012447	HP:0012448	Delayed myelination	1	LIPT2 CL E G H	387787	37216	OMIM:617668	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities	.		2
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	LITAF CL E G H	9516	16841	OMIM:601098	Charcot-Marie-Tooth disease, demyelinating, type 1C			74
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	LMNA CL E G H	4000	6636	ORPHA:98856	Charcot-Marie-Tooth disease type 2B1			645
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	LMNA CL E G H	4000	6636	OMIM:605588	Charcot-Marie-Tooth disease, axonal, type 2B1			645
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant			44
HP:0012447	HP:0011400	Abnormal CNS myelination	1	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant			44
HP:0012447	HP:0011400	Abnormal CNS myelination	1	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome			165
HP:0012447	HP:0012448	Delayed myelination	1	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome			165
HP:0012447	HP:0011400	Abnormal CNS myelination	1	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type			191
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type			191
HP:0012447	HP:0011400	Abnormal CNS myelination	1	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome
HP:0012447	HP:0007108	Demyelinating peripheral neuropathy	1	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional
HP:0012447	HP:0011400	Abnormal CNS myelination	1	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0012447	HP:0012448	Delayed myelination	1	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0012447	HP:0012448	Delayed myelination	1	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH			5
HP:0012447	HP:0011400	Abnormal CNS myelination	1	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH			5
HP:0012447	HP:0012448	Delayed myelination	1	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis	.		136
HP:0012447	HP:0007108	Demyelinating peripheral neuropathy	1	MANBA CL E G H	4126	6831	OMIM:248510	MANNOSIDOSIS, BETA A, LYSOSOMAL	HP:0040283 - Occasional		55
HP:0012447	HP:0012448	Delayed myelination	1	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities	.
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	MAT1A CL E G H	4143	6903	OMIM:250850	METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY			82
HP:0012447	HP:0011400	Abnormal CNS myelination	1	MAT1A CL E G H	4143	6903	OMIM:250850	METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY			82
HP:0012447	HP:0011400	Abnormal CNS myelination	1	MCOLN1 CL E G H	57192	13356	OMIM:252650	Mucolipidosis IV			78
HP:0012447	HP:0012448	Delayed myelination	1	MDH2 CL E G H	4191	6971	OMIM:617339	Epileptic encephalopathy, early infantile, 51	.		4
HP:0012447	HP:0011400	Abnormal CNS myelination	1	MDH2 CL E G H	4191	6971	OMIM:617339	Epileptic encephalopathy, early infantile, 51			4
HP:0012447	HP:0011400	Abnormal CNS myelination	1	MED27 CL E G H	9442	2377	OMIM:619286	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	MFN2 CL E G H	9927	16877	OMIM:609260	Charcot-marie-tooth disease, axonal, type 2A2A			203
HP:0012447	HP:0011400	Abnormal CNS myelination	1	MLYCD CL E G H	23417	7150	OMIM:248360	Malonyl-CoA decarboxylase deficiency			80
HP:0012447	HP:0012448	Delayed myelination	1	MLYCD CL E G H	23417	7150	OMIM:248360	Malonyl-CoA decarboxylase deficiency			80
HP:0012447	HP:0011400	Abnormal CNS myelination	1	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC			101
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC			101
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	MME CL E G H	4311	7154	ORPHA:497764	Spinocerebellar ataxia type 43			18
HP:0012447	HP:0012448	Delayed myelination	1	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
HP:0012447	HP:0011400	Abnormal CNS myelination	1	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	MOCS1 CL E G H	4337	7190	OMIM:252150	Molybdenum cofactor deficiency, complementation group A			96
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	MOCS2 CL E G H	4338	7193	OMIM:252160	Molybdenum cofactor deficiency, complementation group B			26
HP:0012447	HP:0007108	Demyelinating peripheral neuropathy	1	MOGS CL E G H	7841	24862	OMIM:606056	Congenital disorder of glycosylation, type IIB			37
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040282 - Frequent		8
HP:0012447	HP:0007327	Mixed demyelinating and axonal polyneuropathy	1	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040281 - Very frequent		8
HP:0012447	HP:0012448	Delayed myelination	1	MORC2 CL E G H	22880	23573	OMIM:619090	DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY; DIGFAN			8
HP:0012447	HP:0011400	Abnormal CNS myelination	1	MORC2 CL E G H	22880	23573	OMIM:619090	DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY; DIGFAN			8
HP:0012447	HP:0011400	Abnormal CNS myelination	1	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy			9
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy			56
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	MPZ CL E G H	4359	7225	ORPHA:101082	Charcot-Marie-Tooth disease type 1B			134
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	MPZ CL E G H	4359	7225	OMIM:607677	Charcot-Marie-Tooth disease, axonal, type 2I			134
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	MPZ CL E G H	4359	7225	OMIM:118200	Charcot-Marie-Tooth disease, demyelinating, type 1B			134
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	MPZ CL E G H	4359	7225	OMIM:607791	Charcot-Marie-Tooth disease, dominant intermediate D			134
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	MPZ CL E G H	4359	7225	OMIM:607736	Charcot-Marie-Tooth disease, type 2J			134
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	MPZ CL E G H	4359	7225	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			134
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	MPZ CL E G H	4359	7225	OMIM:618184	Neuropathy, congenital hypomyelinating, 2			134
HP:0012447	HP:0007108	Demyelinating peripheral neuropathy	1	MPZ CL E G H	4359	7225	ORPHA:3115	Roussy-Lévy syndrome			134
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	MPZ CL E G H	4359	7225	OMIM:180800	Roussy-Levy hereditary areflexic dystasia			134
HP:0012447	HP:0012448	Delayed myelination	1	MRPS22 CL E G H	56945	14508	OMIM:611719	Combined oxidative phosphorylation deficiency 5	.		25
HP:0012447	HP:0011400	Abnormal CNS myelination	1	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy			29
HP:0012447	HP:0011400	Abnormal CNS myelination	1	MTHFS CL E G H	10588	7437	OMIM:618367	Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination
HP:0012447	HP:0012448	Delayed myelination	1	MTHFS CL E G H	10588	7437	OMIM:618367	Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination	.
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	MTMR2 CL E G H	8898	7450	OMIM:601382	Charcot-Marie-Tooth disease, type 4B1			88
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	MTRFR CL E G H	91574	26784	ORPHA:320375	Autosomal recessive spastic paraplegia type 55
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	MTRFR CL E G H	91574	26784	OMIM:615035	Spastic paraplegia 55, autosomal recessive
HP:0012447	HP:0012448	Delayed myelination	1	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE	HP:0040283 - Occasional		88
HP:0012447	HP:0011400	Abnormal CNS myelination	1	MTTP CL E G H	4547	7467	OMIM:200100	ABETALIPOPROTEINEMIA			81
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	MTTP CL E G H	4547	7467	OMIM:200100	ABETALIPOPROTEINEMIA			81
HP:0012447	HP:0012448	Delayed myelination	1	NACC1 CL E G H	112939	20967	OMIM:617393	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination	.		1
HP:0012447	HP:0011400	Abnormal CNS myelination	1	NACC1 CL E G H	112939	20967	OMIM:617393	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination			1
HP:0012447	HP:0012448	Delayed myelination	1	NACC1 CL E G H	112939	20967	ORPHA:500545	Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract	HP:0040283 - Occasional		1
HP:0012447	HP:0011400	Abnormal CNS myelination	1	NADK2 CL E G H	133686	26404	OMIM:616034	2,4-Dienoyl-Coa reductase deficiency			14
HP:0012447	HP:0011400	Abnormal CNS myelination	1	NADK2 CL E G H	133686	26404	ORPHA:431361	Progressive encephalopathy with leukodystrophy due to DECR deficiency			14
HP:0012447	HP:0011400	Abnormal CNS myelination	1	NARS1 CL E G H	4677	7643	OMIM:619091	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG
HP:0012447	HP:0012448	Delayed myelination	1	NARS1 CL E G H	4677	7643	OMIM:619091	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG
HP:0012447	HP:0011400	Abnormal CNS myelination	1	NARS2 CL E G H	79731	26274	OMIM:616239	Combined oxidative phosphorylation deficiency 24			34
HP:0012447	HP:0011400	Abnormal CNS myelination	1	NCDN CL E G H	23154	17597	OMIM:619373	NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS; NEDIES
HP:0012447	HP:0012448	Delayed myelination	1	NCDN CL E G H	23154	17597	OMIM:619373	NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS; NEDIES
HP:0012447	HP:0011400	Abnormal CNS myelination	1	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency
HP:0012447	HP:0007327	Mixed demyelinating and axonal polyneuropathy	1	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012447	HP:0007108	Demyelinating peripheral neuropathy	1	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012447	HP:0011400	Abnormal CNS myelination	1	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency
HP:0012447	HP:0007108	Demyelinating peripheral neuropathy	1	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012447	HP:0011400	Abnormal CNS myelination	1	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012447	HP:0007108	Demyelinating peripheral neuropathy	1	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0012447	HP:0007327	Mixed demyelinating and axonal polyneuropathy	1	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012447	HP:0007108	Demyelinating peripheral neuropathy	1	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012447	HP:0007327	Mixed demyelinating and axonal polyneuropathy	1	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012447	HP:0007108	Demyelinating peripheral neuropathy	1	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012447	HP:0007327	Mixed demyelinating and axonal polyneuropathy	1	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012447	HP:0007108	Demyelinating peripheral neuropathy	1	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0012447	HP:0007108	Demyelinating peripheral neuropathy	1	NDRG1 CL E G H	10397	7679	ORPHA:99950	Charcot-Marie-Tooth disease type 4D	HP:0040281 - Very frequent		82
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	NDRG1 CL E G H	10397	7679	OMIM:601455	Charcot-Marie-Tooth disease, type 4D			82
HP:0012447	HP:0011400	Abnormal CNS myelination	1	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency			7
HP:0012447	HP:0011400	Abnormal CNS myelination	1	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy			91
HP:0012447	HP:0011400	Abnormal CNS myelination	1	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency			32
HP:0012447	HP:0011400	Abnormal CNS myelination	1	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy			7
HP:0012447	HP:0011400	Abnormal CNS myelination	1	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy			3
HP:0012447	HP:0011400	Abnormal CNS myelination	1	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy			19
HP:0012447	HP:0011400	Abnormal CNS myelination	1	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy			4
HP:0012447	HP:0011400	Abnormal CNS myelination	1	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency			1
HP:0012447	HP:0011400	Abnormal CNS myelination	1	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0012447	HP:0011400	Abnormal CNS myelination	1	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency			40
HP:0012447	HP:0011400	Abnormal CNS myelination	1	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency			26
HP:0012447	HP:0011400	Abnormal CNS myelination	1	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy			26
HP:0012447	HP:0011400	Abnormal CNS myelination	1	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency			31
HP:0012447	HP:0011400	Abnormal CNS myelination	1	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy			31
HP:0012447	HP:0011400	Abnormal CNS myelination	1	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency			50
HP:0012447	HP:0011400	Abnormal CNS myelination	1	NDUFAF4 CL E G H	29078	21034	OMIM:618237	Mitochondrial complex I deficiency, nuclear type 15			50
HP:0012447	HP:0011400	Abnormal CNS myelination	1	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency			34
HP:0012447	HP:0011400	Abnormal CNS myelination	1	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy			34
HP:0012447	HP:0011400	Abnormal CNS myelination	1	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy			39
HP:0012447	HP:0011400	Abnormal CNS myelination	1	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency
HP:0012447	HP:0011400	Abnormal CNS myelination	1	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency
HP:0012447	HP:0011400	Abnormal CNS myelination	1	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency			3
HP:0012447	HP:0011400	Abnormal CNS myelination	1	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency			9
HP:0012447	HP:0011400	Abnormal CNS myelination	1	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy
HP:0012447	HP:0011400	Abnormal CNS myelination	1	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency			16
HP:0012447	HP:0011400	Abnormal CNS myelination	1	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency			81
HP:0012447	HP:0011400	Abnormal CNS myelination	1	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy			81
HP:0012447	HP:0011400	Abnormal CNS myelination	1	NDUFS1 CL E G H	4719	7707	OMIM:618226	Mitochondrial complex I deficiency, nuclear type 5			81
HP:0012447	HP:0011400	Abnormal CNS myelination	1	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency			65
HP:0012447	HP:0011400	Abnormal CNS myelination	1	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy			65
HP:0012447	HP:0011400	Abnormal CNS myelination	1	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy			65
HP:0012447	HP:0011400	Abnormal CNS myelination	1	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency			22
HP:0012447	HP:0011400	Abnormal CNS myelination	1	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy			22
HP:0012447	HP:0011400	Abnormal CNS myelination	1	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency			27
HP:0012447	HP:0011400	Abnormal CNS myelination	1	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0012447	HP:0011400	Abnormal CNS myelination	1	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1			27
HP:0012447	HP:0011400	Abnormal CNS myelination	1	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency			21
HP:0012447	HP:0011400	Abnormal CNS myelination	1	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency			38
HP:0012447	HP:0011400	Abnormal CNS myelination	1	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy			38
HP:0012447	HP:0011400	Abnormal CNS myelination	1	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency			42
HP:0012447	HP:0011400	Abnormal CNS myelination	1	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy			42
HP:0012447	HP:0011400	Abnormal CNS myelination	1	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency			74
HP:0012447	HP:0011400	Abnormal CNS myelination	1	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy			74
HP:0012447	HP:0011400	Abnormal CNS myelination	1	NDUFV1 CL E G H	4723	7716	OMIM:618225	Mitochondrial complex I deficiency, nuclear type 4			74
HP:0012447	HP:0011400	Abnormal CNS myelination	1	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency			27
HP:0012447	HP:0011400	Abnormal CNS myelination	1	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0012447	HP:0007108	Demyelinating peripheral neuropathy	1	NEFL CL E G H	4747	7739	ORPHA:99939	Autosomal dominant Charcot-Marie-Tooth disease type 2E			118
HP:0012447	HP:0007108	Demyelinating peripheral neuropathy	1	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F			118
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F			118
HP:0012447	HP:0007327	Mixed demyelinating and axonal polyneuropathy	1	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F	HP:0040282 - Frequent		118
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	NEFL CL E G H	4747	7739	OMIM:607684	Charcot-Marie-Tooth disease, axonal, type 2E			118
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	NEFL CL E G H	4747	7739	OMIM:607734	Charcot-Marie-Tooth disease, demyelinating, type 1F			118
HP:0012447	HP:0012448	Delayed myelination	1	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional
HP:0012447	HP:0012448	Delayed myelination	1	NEUROD2 CL E G H	4761	7763	OMIM:618374	Epileptic encephalopathy, early infantile, 72
HP:0012447	HP:0011400	Abnormal CNS myelination	1	NEUROD2 CL E G H	4761	7763	OMIM:618374	Epileptic encephalopathy, early infantile, 72
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	NGF CL E G H	4803	7808	ORPHA:64752	Hereditary sensory and autonomic neuropathy type 5			20
HP:0012447	HP:0012448	Delayed myelination	1	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040283 - Occasional		32
HP:0012447	HP:0012448	Delayed myelination	1	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation			32
HP:0012447	HP:0011400	Abnormal CNS myelination	1	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation			32
HP:0012447	HP:0011400	Abnormal CNS myelination	1	NKX6-2 CL E G H	84504	19321	ORPHA:527497	NKX6-2-related autosomal recessive hypomyelinating leukodystrophy			2
HP:0012447	HP:0011400	Abnormal CNS myelination	1	NKX6-2 CL E G H	84504	19321	OMIM:617560	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy			2
HP:0012447	HP:0012448	Delayed myelination	1	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA			15
HP:0012447	HP:0011400	Abnormal CNS myelination	1	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA			15
HP:0012447	HP:0012448	Delayed myelination	1	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome	HP:0040284 - Very rare		37
HP:0012447	HP:0011400	Abnormal CNS myelination	1	NRCAM CL E G H	4897	7994	OMIM:619833				2
HP:0012447	HP:0012448	Delayed myelination	1	NRCAM CL E G H	4897	7994	OMIM:619833				2
HP:0012447	HP:0007108	Demyelinating peripheral neuropathy	1	NRCAM CL E G H	4897	7994	OMIM:619833				2
HP:0012447	HP:0012448	Delayed myelination	1	NRROS CL E G H	375387	24613	OMIM:618875	SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS; SENEBAC			1
HP:0012447	HP:0011400	Abnormal CNS myelination	1	NRROS CL E G H	375387	24613	OMIM:618875	SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS; SENEBAC			1
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	NTRK1 CL E G H	4914	8031	ORPHA:64752	Hereditary sensory and autonomic neuropathy type 5			97
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	NTRK1 CL E G H	4914	8031	OMIM:256800	Insensitivity to pain, congenital, with anhidrosis			97
HP:0012447	HP:0012448	Delayed myelination	1	NTRK2 CL E G H	4915	8032	OMIM:617830	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58; EIEE58			8
HP:0012447	HP:0012448	Delayed myelination	1	NTRK2 CL E G H	4915	8032	OMIM:613886	Obesity, hyperphagia, and developmental delay	HP:0040284 - Very rare		8
HP:0012447	HP:0011400	Abnormal CNS myelination	1	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency			89
HP:0012447	HP:0011400	Abnormal CNS myelination	1	NUBPL CL E G H	80224	20278	OMIM:618242	Mitochondrial complex I deficiency, nuclear type 21			89
HP:0012447	HP:0011400	Abnormal CNS myelination	1	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF			4
HP:0012447	HP:0012448	Delayed myelination	1	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF			4
HP:0012447	HP:0012448	Delayed myelination	1	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040282 - Frequent		121
HP:0012447	HP:0012448	Delayed myelination	1	PAK1 CL E G H	5058	8590	OMIM:618158	Intellectual developmental disorder with macrocephaly, seizures, and speech delay	HP:0040284 - Very rare
HP:0012447	HP:0011400	Abnormal CNS myelination	1	PARS2 CL E G H	25973	30563	OMIM:618437	Epileptic encephalopathy, early infantile, 75			14
HP:0012447	HP:0011400	Abnormal CNS myelination	1	PC CL E G H	5091	8636	OMIM:266150	Pyruvate carboxylase deficiency			118
HP:0012447	HP:0011400	Abnormal CNS myelination	1	PDCD1 CL E G H	5133	8760	OMIM:126200	Multiple sclerosis, susceptibility to			1
HP:0012447	HP:0011400	Abnormal CNS myelination	1	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy			88
HP:0012447	HP:0011400	Abnormal CNS myelination	1	PDYN CL E G H	5173	8820	OMIM:610245	Spinocerebellar ataxia 23			52
HP:0012447	HP:0011400	Abnormal CNS myelination	1	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy			6
HP:0012447	HP:0011400	Abnormal CNS myelination	1	PEX1 CL E G H	5189	8850	OMIM:601539	Peroxisome biogenesis disorder 1B			169
HP:0012447	HP:0011400	Abnormal CNS myelination	1	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B			75
HP:0012447	HP:0011400	Abnormal CNS myelination	1	PEX13 CL E G H	5194	8855	OMIM:614883	Peroxisome biogenesis disorder 11A (Zellweger)			66
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B			59
HP:0012447	HP:0011400	Abnormal CNS myelination	1	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B			59
HP:0012447	HP:0011400	Abnormal CNS myelination	1	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)			62
HP:0012447	HP:0011400	Abnormal CNS myelination	1	PEX7 CL E G H	5191	8860	OMIM:215100	Rhizomelic chondrodysplasia punctata, type 1			72
HP:0012447	HP:0012448	Delayed myelination	1	PEX7 CL E G H	5191	8860	OMIM:215100	Rhizomelic chondrodysplasia punctata, type 1			72
HP:0012447	HP:0012448	Delayed myelination	1	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0012447	HP:0011400	Abnormal CNS myelination	1	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0012447	HP:0011400	Abnormal CNS myelination	1	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			8
HP:0012447	HP:0011400	Abnormal CNS myelination	1	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			20
HP:0012447	HP:0011400	Abnormal CNS myelination	1	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23			15
HP:0012447	HP:0012448	Delayed myelination	1	PHACTR1 CL E G H	221692	20990	OMIM:618298	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE70			1
HP:0012447	HP:0011400	Abnormal CNS myelination	1	PHACTR1 CL E G H	221692	20990	OMIM:618298	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE70			1
HP:0012447	HP:0012448	Delayed myelination	1	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form	HP:0040282 - Frequent		37
HP:0012447	HP:0011400	Abnormal CNS myelination	1	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form			37
HP:0012447	HP:0011400	Abnormal CNS myelination	1	PHGDH CL E G H	26227	8923	OMIM:601815	Phosphoglycerate dehydrogenase deficiency			37
HP:0012447	HP:0011400	Abnormal CNS myelination	1	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2			11
HP:0012447	HP:0012448	Delayed myelination	1	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	.		46
HP:0012447	HP:0011400	Abnormal CNS myelination	1	PIGG CL E G H	54872	25985	ORPHA:488635	Early-onset epilepsy-intellectual disability-brain anomalies syndrome			7
HP:0012447	HP:0011400	Abnormal CNS myelination	1	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			36
HP:0012447	HP:0012448	Delayed myelination	1	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040282 - Frequent		37
HP:0012447	HP:0011400	Abnormal CNS myelination	1	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			84
HP:0012447	HP:0012448	Delayed myelination	1	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional		2
HP:0012447	HP:0012448	Delayed myelination	1	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional		3
HP:0012447	HP:0011400	Abnormal CNS myelination	1	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0012447	HP:0012448	Delayed myelination	1	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0012447	HP:0012448	Delayed myelination	1	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0012447	HP:0011400	Abnormal CNS myelination	1	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0012447	HP:0012448	Delayed myelination	1	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation			57
HP:0012447	HP:0011400	Abnormal CNS myelination	1	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			57
HP:0012447	HP:0011400	Abnormal CNS myelination	1	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			6
HP:0012447	HP:0011400	Abnormal CNS myelination	1	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			2
HP:0012447	HP:0011400	Abnormal CNS myelination	1	PKDCC CL E G H	91461	25123	OMIM:618821	RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0012447	HP:0012448	Delayed myelination	1	PKDCC CL E G H	91461	25123	OMIM:618821	RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0012447	HP:0012448	Delayed myelination	1	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies			3
HP:0012447	HP:0012448	Delayed myelination	1	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder	HP:0040282 - Frequent		3
HP:0012447	HP:0011400	Abnormal CNS myelination	1	PLEKHG2 CL E G H	64857	29515	OMIM:616763	Leukodystrophy and acquired microcephaly with or without dystonia			3
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	PLEKHG5 CL E G H	57449	29105	OMIM:615376	Charcot-Marie-Tooth disease, recessive intermediate C			186
HP:0012447	HP:0011400	Abnormal CNS myelination	1	PLP1 CL E G H	5354	9086	ORPHA:280234	Null syndrome			60
HP:0012447	HP:0007108	Demyelinating peripheral neuropathy	1	PLP1 CL E G H	5354	9086	ORPHA:280234	Null syndrome	HP:0040281 - Very frequent		60
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	PLP1 CL E G H	5354	9086	ORPHA:280234	Null syndrome			60
HP:0012447	HP:0011400	Abnormal CNS myelination	1	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease			60
HP:0012447	HP:0011400	Abnormal CNS myelination	1	PLP1 CL E G H	5354	9086	ORPHA:280229	Pelizaeus-Merzbacher disease in female carriers			60
HP:0012447	HP:0011400	Abnormal CNS myelination	1	PLP1 CL E G H	5354	9086	ORPHA:280219	Pelizaeus-Merzbacher disease, classic form			60
HP:0012447	HP:0011400	Abnormal CNS myelination	1	PLP1 CL E G H	5354	9086	ORPHA:280210	Pelizaeus-Merzbacher disease, connatal form			60
HP:0012447	HP:0011400	Abnormal CNS myelination	1	PLP1 CL E G H	5354	9086	ORPHA:280224	Pelizaeus-Merzbacher disease, transitional form			60
HP:0012447	HP:0011400	Abnormal CNS myelination	1	PLPBP CL E G H	11212	9457	ORPHA:3006	Pyridoxine-dependent epilepsy			6
HP:0012447	HP:0012448	Delayed myelination	1	PLPBP CL E G H	11212	9457	ORPHA:3006	Pyridoxine-dependent epilepsy			6
HP:0012447	HP:0012448	Delayed myelination	1	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040282 - Frequent		150
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	PMP2 CL E G H	5375	9117	OMIM:618279	Charcot-Marie-Tooth disease, demyelinating, type 1G			1
HP:0012447	HP:0007108	Demyelinating peripheral neuropathy	1	PMP22 CL E G H	5376	9118	ORPHA:98916	Acute inflammatory demyelinating polyradiculoneuropathy			79
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	PMP22 CL E G H	5376	9118	ORPHA:98916	Acute inflammatory demyelinating polyradiculoneuropathy			79
HP:0012447	HP:0007108	Demyelinating peripheral neuropathy	1	PMP22 CL E G H	5376	9118	ORPHA:101081	Charcot-Marie-Tooth disease type 1A	HP:0040282 - Frequent		79
HP:0012447	HP:0007108	Demyelinating peripheral neuropathy	1	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E	HP:0040281 - Very frequent		79
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	PMP22 CL E G H	5376	9118	OMIM:118220	Charcot-Marie-Tooth disease, demyelinating, type 1A			79
HP:0012447	HP:0007108	Demyelinating peripheral neuropathy	1	PMP22 CL E G H	5376	9118	OMIM:139393	GUILLAIN-BARRE SYNDROME, FAMILIAL; GBS			79
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	PMP22 CL E G H	5376	9118	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			79
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	PMP22 CL E G H	5376	9118	OMIM:162500	Neuropathy, hereditary, with liability to pressure palsies			79
HP:0012447	HP:0007108	Demyelinating peripheral neuropathy	1	PMP22 CL E G H	5376	9118	ORPHA:3115	Roussy-Lévy syndrome			79
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	PMP22 CL E G H	5376	9118	OMIM:180800	Roussy-Levy hereditary areflexic dystasia			79
HP:0012447	HP:0012448	Delayed myelination	1	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional		244
HP:0012447	HP:0012448	Delayed myelination	1	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13	HP:0040282 - Frequent		60
HP:0012447	HP:0011400	Abnormal CNS myelination	1	PNPT1 CL E G H	87178	23166	OMIM:614932	Combined oxidative phosphorylation deficiency 13			60
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	PNPT1 CL E G H	87178	23166	OMIM:608703	Spinocerebellar ataxia 25			60
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	PNPT1 CL E G H	87178	23166	ORPHA:101111	Spinocerebellar ataxia type 25			60
HP:0012447	HP:0012448	Delayed myelination	1	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040284 - Very rare		35
HP:0012447	HP:0011400	Abnormal CNS myelination	1	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0012447	HP:0012448	Delayed myelination	1	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0012447	HP:0011400	Abnormal CNS myelination	1	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome			35
HP:0012447	HP:0007108	Demyelinating peripheral neuropathy	1	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent		464
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			464
HP:0012447	HP:0011400	Abnormal CNS myelination	1	POLR1C CL E G H	9533	20194	ORPHA:88637	Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome			38
HP:0012447	HP:0011400	Abnormal CNS myelination	1	POLR1C CL E G H	9533	20194	OMIM:616494	Leukodystrophy, hypomyelinating, 11			38
HP:0012447	HP:0012448	Delayed myelination	1	POLR2A CL E G H	5430	9187	OMIM:618603	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0012447	HP:0011400	Abnormal CNS myelination	1	POLR2A CL E G H	5430	9187	OMIM:618603	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0012447	HP:0011400	Abnormal CNS myelination	1	POLR3A CL E G H	11128	30074	ORPHA:88637	Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome			138
HP:0012447	HP:0011400	Abnormal CNS myelination	1	POLR3A CL E G H	11128	30074	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism			138
HP:0012447	HP:0011400	Abnormal CNS myelination	1	POLR3A CL E G H	11128	30074	ORPHA:447896	Tremor-ataxia-central hypomyelination syndrome			138
HP:0012447	HP:0011400	Abnormal CNS myelination	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0012447	HP:0011400	Abnormal CNS myelination	1	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome			138
HP:0012447	HP:0007108	Demyelinating peripheral neuropathy	1	POLR3B CL E G H	55703	30348	OMIM:619742	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I			67
HP:0012447	HP:0012448	Delayed myelination	1	POLR3B CL E G H	55703	30348	OMIM:619742	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I			67
HP:0012447	HP:0011400	Abnormal CNS myelination	1	POLR3B CL E G H	55703	30348	OMIM:619742	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I			67
HP:0012447	HP:0011400	Abnormal CNS myelination	1	POLR3B CL E G H	55703	30348	ORPHA:88637	Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome			67
HP:0012447	HP:0011400	Abnormal CNS myelination	1	POLR3B CL E G H	55703	30348	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism			67
HP:0012447	HP:0011400	Abnormal CNS myelination	1	POLR3B CL E G H	55703	30348	OMIM:614381	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism			67
HP:0012447	HP:0012448	Delayed myelination	1	POU3F3 CL E G H	5455	9216	OMIM:618604	SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS
HP:0012447	HP:0011400	Abnormal CNS myelination	1	POU3F3 CL E G H	5455	9216	OMIM:618604	SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS
HP:0012447	HP:0011400	Abnormal CNS myelination	1	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0012447	HP:0011400	Abnormal CNS myelination	1	PPIL1 CL E G H	51645	9260	OMIM:619301	PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0012447	HP:0012448	Delayed myelination	1	PPIL1 CL E G H	51645	9260	OMIM:619301	PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0012447	HP:0012448	Delayed myelination	1	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2	HP:0040283 - Occasional		2
HP:0012447	HP:0012448	Delayed myelination	1	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional		2
HP:0012447	HP:0011400	Abnormal CNS myelination	1	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			2
HP:0012447	HP:0012448	Delayed myelination	1	PPP2CA CL E G H	5515	9299	OMIM:618354	Neurodevelopmental disorder and language delay with or without structural brain abnormalities	.		2
HP:0012447	HP:0012448	Delayed myelination	1	PPP2R1A CL E G H	5518	9302	OMIM:616362	Mental retardation, autosomal dominant 36	.		13
HP:0012447	HP:0011400	Abnormal CNS myelination	1	PPP2R1A CL E G H	5518	9302	OMIM:616362	Mental retardation, autosomal dominant 36			13
HP:0012447	HP:0012448	Delayed myelination	1	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome	HP:0040282 - Frequent		13
HP:0012447	HP:0011400	Abnormal CNS myelination	1	PPP3CA CL E G H	5530	9314	OMIM:617711	Epileptic encephalopathy, infantile or early childhood, 1			2
HP:0012447	HP:0012448	Delayed myelination	1	PPP3CA CL E G H	5530	9314	OMIM:617711	Epileptic encephalopathy, infantile or early childhood, 1	.		2
HP:0012447	HP:0011400	Abnormal CNS myelination	1	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2			58
HP:0012447	HP:0011400	Abnormal CNS myelination	1	PRKDC CL E G H	5591	9413	OMIM:615966	Immunodeficiency 26 with or without neurologic abnormalities			42
HP:0012447	HP:0012448	Delayed myelination	1	PRMT7 CL E G H	54496	25557	OMIM:617157	Short stature, brachydactyly, intellectual developmental disability, and seizures	.		6
HP:0012447	HP:0011400	Abnormal CNS myelination	1	PRPS1 CL E G H	5631	9462	OMIM:301835	Arts syndrome			49
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	PRPS1 CL E G H	5631	9462	OMIM:311070	Charcot-Marie-Tooth disease, X-linked recessive, 5			49
HP:0012447	HP:0011400	Abnormal CNS myelination	1	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy			49
HP:0012447	HP:0012448	Delayed myelination	1	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome	HP:0040282 - Frequent		49
HP:0012447	HP:0011400	Abnormal CNS myelination	1	PRUNE1 CL E G H	58497	13420	OMIM:617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies			8
HP:0012447	HP:0012448	Delayed myelination	1	PRUNE1 CL E G H	58497	13420	OMIM:617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	.		8
HP:0012447	HP:0012448	Delayed myelination	1	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome			8
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	PRX CL E G H	57716	13797	OMIM:614895	Charcot-Marie-Tooth disease, demyelinating, type 4F			170
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	PRX CL E G H	57716	13797	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			170
HP:0012447	HP:0011400	Abnormal CNS myelination	1	PSAP CL E G H	5660	9498	OMIM:611721	Combined saposin deficiency			81
HP:0012447	HP:0011400	Abnormal CNS myelination	1	PSAP CL E G H	5660	9498	OMIM:611722	KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY			81
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	PSAP CL E G H	5660	9498	OMIM:249900	Metachromatic leukodystrophy due to saposin B deficiency			81
HP:0012447	HP:0011400	Abnormal CNS myelination	1	PSAP CL E G H	5660	9498	OMIM:249900	Metachromatic leukodystrophy due to saposin B deficiency			81
HP:0012447	HP:0011400	Abnormal CNS myelination	1	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form			81
HP:0012447	HP:0011400	Abnormal CNS myelination	1	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form			81
HP:0012447	HP:0011400	Abnormal CNS myelination	1	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form			81
HP:0012447	HP:0012448	Delayed myelination	1	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form	HP:0040283 - Occasional		27
HP:0012447	HP:0011400	Abnormal CNS myelination	1	PTEN CL E G H	5728	9588	ORPHA:101070	Bilateral frontoparietal polymicrogyria			948
HP:0012447	HP:0011400	Abnormal CNS myelination	1	PURA CL E G H	5813	9701	OMIM:616158	Mental retardation, autosomal dominant 31			53
HP:0012447	HP:0012448	Delayed myelination	1	PURA CL E G H	5813	9701	OMIM:616158	Mental retardation, autosomal dominant 31	.		53
HP:0012447	HP:0012448	Delayed myelination	1	PURA CL E G H	5813	9701	ORPHA:314655	Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion	HP:0040282 - Frequent		53
HP:0012447	HP:0011400	Abnormal CNS myelination	1	PYCR2 CL E G H	29920	30262	OMIM:616420	Leukodystrophy, hypomyelinating, 10			11
HP:0012447	HP:0011400	Abnormal CNS myelination	1	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy			11
HP:0012447	HP:0011400	Abnormal CNS myelination	1	QARS1 CL E G H	5859	9751	OMIM:615760	Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
HP:0012447	HP:0012448	Delayed myelination	1	RAB11B CL E G H	9230	9761	OMIM:617807	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter	.
HP:0012447	HP:0011400	Abnormal CNS myelination	1	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1			90
HP:0012447	HP:0012448	Delayed myelination	1	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1			90
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	RAB7A CL E G H	7879	9788	OMIM:600882	Charcot-Marie-Tooth disease, axonal, type 2B			50
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome			150
HP:0012447	HP:0011400	Abnormal CNS myelination	1	RARS1 CL E G H	5917	9870	OMIM:616140	Leukodystrophy, hypomyelinating, 9
HP:0012447	HP:0011400	Abnormal CNS myelination	1	RARS1 CL E G H	5917	9870	ORPHA:438114	RARS-related autosomal recessive hypomyelinating leukodystrophy
HP:0012447	HP:0011400	Abnormal CNS myelination	1	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome			10
HP:0012447	HP:0012448	Delayed myelination	1	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome			10
HP:0012447	HP:0011400	Abnormal CNS myelination	1	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0012447	HP:0012448	Delayed myelination	1	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0012447	HP:0011400	Abnormal CNS myelination	1	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome			16
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	RETREG1 CL E G H	54463	25964	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II			54
HP:0012447	HP:0007108	Demyelinating peripheral neuropathy	1	RFC1 CL E G H	5981	9969	ORPHA:504476	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	HP:0040282 - Frequent
HP:0012447	HP:0012448	Delayed myelination	1	RHOBTB2 CL E G H	23221	18756	OMIM:618004	Epileptic encephalopathy, early infantile, 64	.		1
HP:0012447	HP:0011400	Abnormal CNS myelination	1	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11			26
HP:0012447	HP:0012448	Delayed myelination	1	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11	.		26
HP:0012447	HP:0011400	Abnormal CNS myelination	1	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome			33
HP:0012447	HP:0007108	Demyelinating peripheral neuropathy	1	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		33
HP:0012447	HP:0011400	Abnormal CNS myelination	1	RNASEH2A CL E G H	10535	18518	OMIM:610333	Aicardi-Goutieres syndrome 4			33
HP:0012447	HP:0007108	Demyelinating peripheral neuropathy	1	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		34
HP:0012447	HP:0011400	Abnormal CNS myelination	1	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome			34
HP:0012447	HP:0007108	Demyelinating peripheral neuropathy	1	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		60
HP:0012447	HP:0011400	Abnormal CNS myelination	1	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome			60
HP:0012447	HP:0012448	Delayed myelination	1	RNASEH2C CL E G H	84153	24116	OMIM:610329	Aicardi-Goutieres syndrome 3	.		60
HP:0012447	HP:0011400	Abnormal CNS myelination	1	RNASET2 CL E G H	8635	21686	OMIM:612951	Leukoencephalopathy, cystic, without megalencephaly	HP:0040283 - Occasional		37
HP:0012447	HP:0011400	Abnormal CNS myelination	1	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy			3
HP:0012447	HP:0012448	Delayed myelination	1	RNF13 CL E G H	11342	10057	OMIM:618379	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73
HP:0012447	HP:0011400	Abnormal CNS myelination	1	RNF13 CL E G H	11342	10057	OMIM:618379	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73
HP:0012447	HP:0012448	Delayed myelination	1	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0012447	HP:0007108	Demyelinating peripheral neuropathy	1	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome	HP:0040283 - Occasional		7
HP:0012447	HP:0011400	Abnormal CNS myelination	1	RNF220 CL E G H	55182	25552	OMIM:619688	LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY; HLD23			1
HP:0012447	HP:0007108	Demyelinating peripheral neuropathy	1	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional
HP:0012447	HP:0011400	Abnormal CNS myelination	1	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome
HP:0012447	HP:0011400	Abnormal CNS myelination	1	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0012447	HP:0012448	Delayed myelination	1	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0012447	HP:0007108	Demyelinating peripheral neuropathy	1	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent		125
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			125
HP:0012447	HP:0007108	Demyelinating peripheral neuropathy	1	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay	HP:0040282 - Frequent		309
HP:0012447	HP:0007922	Hypermyelinated retinal nerve fibers	1	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay	HP:0040282 - Frequent		309
HP:0012447	HP:0007922	Hypermyelinated retinal nerve fibers	1	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type			309
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type			309
HP:0012447	HP:0007108	Demyelinating peripheral neuropathy	1	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		55
HP:0012447	HP:0011400	Abnormal CNS myelination	1	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome			55
HP:0012447	HP:0011400	Abnormal CNS myelination	1	SAMHD1 CL E G H	25939	15925	OMIM:612952	Aicardi-Goutieres syndrome 5			55
HP:0012447	HP:0012448	Delayed myelination	1	SATB2 CL E G H	23314	21637	ORPHA:576283	SATB2-associated syndrome due to a pathogenic variant	HP:0040282 - Frequent		34
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	SBF1 CL E G H	6305	10542	OMIM:615284	Charcot-Marie-Tooth disease, type 4B3			16
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2			180
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	SBF2 CL E G H	81846	2135	OMIM:604563	Charcot-Marie-Tooth disease, type 4B2			180
HP:0012447	HP:0012448	Delayed myelination	1	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional		126
HP:0012447	HP:0012448	Delayed myelination	1	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional		427
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	SCN9A CL E G H	6335	10597	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II			318
HP:0012447	HP:0011400	Abnormal CNS myelination	1	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy			40
HP:0012447	HP:0011400	Abnormal CNS myelination	1	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy			304
HP:0012447	HP:0011400	Abnormal CNS myelination	1	SDHB CL E G H	6390	10681	OMIM:619224	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4			237
HP:0012447	HP:0007108	Demyelinating peripheral neuropathy	1	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
HP:0012447	HP:0012448	Delayed myelination	1	SEPSECS CL E G H	51091	30605	OMIM:613811	Pontocerebellar hypoplasia, type 2D	.		66
HP:0012447	HP:0012448	Delayed myelination	1	SETD1A CL E G H	9739	29010	OMIM:618832	EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY; EPEDD			6
HP:0012447	HP:0011400	Abnormal CNS myelination	1	SETD1A CL E G H	9739	29010	OMIM:618832	EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY; EPEDD			6
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C			493
HP:0012447	HP:0007108	Demyelinating peripheral neuropathy	1	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C	HP:0040282 - Frequent		493
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	SH3TC2 CL E G H	79628	29427	OMIM:601596	Charcot-Marie-Tooth disease, type 4C			493
HP:0012447	HP:0012448	Delayed myelination	1	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0012447	HP:0011400	Abnormal CNS myelination	1	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0012447	HP:0011400	Abnormal CNS myelination	1	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency	HP:0040282 - Frequent		2
HP:0012447	HP:0011400	Abnormal CNS myelination	1	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			6
HP:0012447	HP:0012448	Delayed myelination	1	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional		11
HP:0012447	HP:0011400	Abnormal CNS myelination	1	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0012447	HP:0012448	Delayed myelination	1	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0012447	HP:0011400	Abnormal CNS myelination	1	SLC12A5 CL E G H	57468	13818	OMIM:616645	Epileptic encephalopathy, early infantile, 34			8
HP:0012447	HP:0012448	Delayed myelination	1	SLC12A5 CL E G H	57468	13818	OMIM:616645	Epileptic encephalopathy, early infantile, 34			8
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy			163
HP:0012447	HP:0007108	Demyelinating peripheral neuropathy	1	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy			163
HP:0012447	HP:0012448	Delayed myelination	1	SLC13A5 CL E G H	284111	23089	OMIM:615905	Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta	.		73
HP:0012447	HP:0011400	Abnormal CNS myelination	1	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome			57
HP:0012447	HP:0012448	Delayed myelination	1	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome	HP:0040282 - Frequent		57
HP:0012447	HP:0012448	Delayed myelination	1	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome			57
HP:0012447	HP:0011400	Abnormal CNS myelination	1	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy			110
HP:0012447	HP:0012448	Delayed myelination	1	SLC1A2 CL E G H	6506	10940	OMIM:617105	Epileptic encephalopathy, early infantile, 41			3
HP:0012447	HP:0011400	Abnormal CNS myelination	1	SLC1A2 CL E G H	6506	10940	OMIM:617105	Epileptic encephalopathy, early infantile, 41			3
HP:0012447	HP:0011400	Abnormal CNS myelination	1	SLC1A4 CL E G H	6509	10942	OMIM:616657	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly			4
HP:0012447	HP:0012448	Delayed myelination	1	SLC1A4 CL E G H	6509	10942	OMIM:616657	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly			4
HP:0012447	HP:0011400	Abnormal CNS myelination	1	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome			4
HP:0012447	HP:0012448	Delayed myelination	1	SLC25A1 CL E G H	6576	10979	OMIM:615182	Combined d-2- and l-2-hydroxyglutaric aciduria	.		28
HP:0012447	HP:0011400	Abnormal CNS myelination	1	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39			44
HP:0012447	HP:0012448	Delayed myelination	1	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional		166
HP:0012447	HP:0012448	Delayed myelination	1	SLC25A22 CL E G H	79751	19954	OMIM:609304	Epileptic encephalopathy, early infantile, 3	.		166
HP:0012447	HP:0012448	Delayed myelination	1	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin	HP:0040283 - Occasional		255
HP:0012447	HP:0012448	Delayed myelination	1	SLC2A1 CL E G H	6513	11005	OMIM:608885	Stomatin-Deficient cryohydrocytosis with neurologic defects	.		255
HP:0012447	HP:0011400	Abnormal CNS myelination	1	SLC33A1 CL E G H	9197	95	OMIM:614482	Congenital cataracts, hearing loss, and neurodegeneration			48
HP:0012447	HP:0012448	Delayed myelination	1	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm			27
HP:0012447	HP:0011400	Abnormal CNS myelination	1	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm			27
HP:0012447	HP:0012448	Delayed myelination	1	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG	HP:0040282 - Frequent		27
HP:0012447	HP:0012448	Delayed myelination	1	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked	.		122
HP:0012447	HP:0011400	Abnormal CNS myelination	1	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome			2
HP:0012447	HP:0012448	Delayed myelination	1	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome			2
HP:0012447	HP:0011400	Abnormal CNS myelination	1	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A			164
HP:0012447	HP:0012448	Delayed myelination	1	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A			164
HP:0012447	HP:0011400	Abnormal CNS myelination	1	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA			1
HP:0012447	HP:0011400	Abnormal CNS myelination	1	SNIP1 CL E G H	79753	30587	OMIM:614501	Psychomotor retardation, epilepsy, and craniofacial dysmorphism			3
HP:0012447	HP:0011400	Abnormal CNS myelination	1	SNORD118 CL E G H	727676	32952	OMIM:614561	Leukoencephalopathy, brain calcifications, and cysts			6
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease			61
HP:0012447	HP:0011400	Abnormal CNS myelination	1	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease			61
HP:0012447	HP:0007108	Demyelinating peripheral neuropathy	1	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease	.		61
HP:0012447	HP:0011400	Abnormal CNS myelination	1	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E			61
HP:0012447	HP:0011400	Abnormal CNS myelination	1	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome			49
HP:0012447	HP:0012448	Delayed myelination	1	SPATA5 CL E G H	166378	18119	OMIM:616577	Epilepsy, hearing loss, and mental retardation syndrome			19
HP:0012447	HP:0011400	Abnormal CNS myelination	1	SPATA5 CL E G H	166378	18119	OMIM:616577	Epilepsy, hearing loss, and mental retardation syndrome			19
HP:0012447	HP:0011400	Abnormal CNS myelination	1	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome			19
HP:0012447	HP:0011400	Abnormal CNS myelination	1	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			287
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive			287
HP:0012447	HP:0011400	Abnormal CNS myelination	1	SPTAN1 CL E G H	6709	11273	OMIM:613477	Epileptic encephalopathy, early infantile, 5			416
HP:0012447	HP:0012448	Delayed myelination	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0012447	HP:0011400	Abnormal CNS myelination	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0012447	HP:0011400	Abnormal CNS myelination	1	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			54
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	SPTLC1 CL E G H	10558	11277	OMIM:162400	Neuropathy, hereditary sensory and autonomic, type IA			54
HP:0012447	HP:0012448	Delayed myelination	1	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome	.		24
HP:0012447	HP:0012448	Delayed myelination	1	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome			237
HP:0012447	HP:0011400	Abnormal CNS myelination	1	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome			237
HP:0012447	HP:0011400	Abnormal CNS myelination	1	STXBP1 CL E G H	6812	11444	OMIM:612164	Epileptic encephalopathy, early infantile, 4			237
HP:0012447	HP:0012448	Delayed myelination	1	STXBP1 CL E G H	6812	11444	OMIM:612164	Epileptic encephalopathy, early infantile, 4			237
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	SUMF1 CL E G H	285362	20376	OMIM:272200	Multiple sulfatase deficiency			80
HP:0012447	HP:0011400	Abnormal CNS myelination	1	SUMF1 CL E G H	285362	20376	OMIM:272200	Multiple sulfatase deficiency			80
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	SURF1 CL E G H	6834	11474	OMIM:616684	Charcot-Marie-Tooth disease, type 4K			73
HP:0012447	HP:0011400	Abnormal CNS myelination	1	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy			73
HP:0012447	HP:0011400	Abnormal CNS myelination	1	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy			73
HP:0012447	HP:0012448	Delayed myelination	1	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	HP:0040283 - Occasional		1
HP:0012447	HP:0011400	Abnormal CNS myelination	1	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy			23
HP:0012447	HP:0011400	Abnormal CNS myelination	1	TAF13 CL E G H	6884	11546	OMIM:617432	Mental retardation, autosomal recessive 60			2
HP:0012447	HP:0012448	Delayed myelination	1	TAF13 CL E G H	6884	11546	OMIM:617432	Mental retardation, autosomal recessive 60	HP:0040283 - Occasional		2
HP:0012447	HP:0011400	Abnormal CNS myelination	1	TAF2 CL E G H	6873	11536	OMIM:615599	Mental retardation, autosomal recessive 40			7
HP:0012447	HP:0012448	Delayed myelination	1	TAF2 CL E G H	6873	11536	OMIM:615599	Mental retardation, autosomal recessive 40	.		7
HP:0012447	HP:0012448	Delayed myelination	1	TAF2 CL E G H	6873	11536	ORPHA:397951	Microcephaly-thin corpus callosum-intellectual disability syndrome	HP:0040282 - Frequent		7
HP:0012447	HP:0011400	Abnormal CNS myelination	1	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0012447	HP:0011400	Abnormal CNS myelination	1	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0012447	HP:0012448	Delayed myelination	1	TBC1D24 CL E G H	57465	29203	OMIM:615338	Epileptic encephalopathy, early infantile, 16	.		271
HP:0012447	HP:0012448	Delayed myelination	1	TBC1D24 CL E G H	57465	29203	ORPHA:352596	Progressive myoclonic epilepsy with dystonia			271
HP:0012447	HP:0011400	Abnormal CNS myelination	1	TBC1D24 CL E G H	57465	29203	ORPHA:352596	Progressive myoclonic epilepsy with dystonia			271
HP:0012447	HP:0011400	Abnormal CNS myelination	1	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome			16
HP:0012447	HP:0011400	Abnormal CNS myelination	1	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT			16
HP:0012447	HP:0012448	Delayed myelination	1	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome	.		52
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	TFG CL E G H	10342	11758	OMIM:604484	Neuropathy, hereditary motor and sensory, Okinawa type			18
HP:0012447	HP:0007108	Demyelinating peripheral neuropathy	1	TFG CL E G H	10342	11758	OMIM:615658	Spastic paraplegia 57, autosomal recessive			18
HP:0012447	HP:0011400	Abnormal CNS myelination	1	TGFB1 CL E G H	7040	11766	OMIM:618213	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE			13
HP:0012447	HP:0012448	Delayed myelination	1	TGFB1 CL E G H	7040	11766	OMIM:618213	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE			13
HP:0012447	HP:0011400	Abnormal CNS myelination	1	TIAM1 CL E G H	7074	11805	OMIM:619908				2
HP:0012447	HP:0012448	Delayed myelination	1	TIMM22 CL E G H	29928	17317	OMIM:618851	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43; COXPD43
HP:0012447	HP:0011400	Abnormal CNS myelination	1	TIMM22 CL E G H	29928	17317	OMIM:618851	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43; COXPD43
HP:0012447	HP:0011400	Abnormal CNS myelination	1	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency			1
HP:0012447	HP:0011400	Abnormal CNS myelination	1	TKFC CL E G H	26007	24552	OMIM:618805	TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0012447	HP:0012448	Delayed myelination	1	TKFC CL E G H	26007	24552	OMIM:618805	TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0012447	HP:0011400	Abnormal CNS myelination	1	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16
HP:0012447	HP:0012448	Delayed myelination	1	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16
HP:0012447	HP:0011400	Abnormal CNS myelination	1	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency			4
HP:0012447	HP:0012448	Delayed myelination	1	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0012447	HP:0011400	Abnormal CNS myelination	1	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0012447	HP:0011400	Abnormal CNS myelination	1	TMEM240 CL E G H	339453	25186	OMIM:607454	Spinocerebellar ataxia 21			9
HP:0012447	HP:0012448	Delayed myelination	1	TMEM240 CL E G H	339453	25186	OMIM:607454	Spinocerebellar ataxia 21			9
HP:0012447	HP:0011400	Abnormal CNS myelination	1	TMEM63A CL E G H	9725	29118	OMIM:618688	LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0012447	HP:0012448	Delayed myelination	1	TMEM63A CL E G H	9725	29118	OMIM:618688	LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0012447	HP:0011400	Abnormal CNS myelination	1	TMTC3 CL E G H	160418	26899	OMIM:617255	Lissencephaly 8			5
HP:0012447	HP:0012448	Delayed myelination	1	TNPO2 CL E G H	30000	19998	OMIM:619556	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0012447	HP:0011400	Abnormal CNS myelination	1	TNPO2 CL E G H	30000	19998	OMIM:619556	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0012447	HP:0012448	Delayed myelination	1	TNR CL E G H	7143	11953	OMIM:619653	NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO			7
HP:0012447	HP:0011400	Abnormal CNS myelination	1	TNR CL E G H	7143	11953	OMIM:619653	NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO			7
HP:0012447	HP:0011400	Abnormal CNS myelination	1	TRAPPC11 CL E G H	60684	25751	OMIM:615356	Muscular dystrophy, limb-girdle, autosomal recessive 18			27
HP:0012447	HP:0011400	Abnormal CNS myelination	1	TRAPPC2L CL E G H	51693	30887	OMIM:618331	Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis
HP:0012447	HP:0012448	Delayed myelination	1	TRAPPC2L CL E G H	51693	30887	OMIM:618331	Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis	.
HP:0012447	HP:0011400	Abnormal CNS myelination	1	TREM2 CL E G H	54209	17761	OMIM:618193	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL2			31
HP:0012447	HP:0007108	Demyelinating peripheral neuropathy	1	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		56
HP:0012447	HP:0011400	Abnormal CNS myelination	1	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome			56
HP:0012447	HP:0011400	Abnormal CNS myelination	1	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1			56
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	TRIM2 CL E G H	23321	15974	OMIM:615490	Charcot-Marie-Tooth disease, axonal, type 2R			3
HP:0012447	HP:0012448	Delayed myelination	1	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional		1
HP:0012447	HP:0012448	Delayed myelination	1	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS			1
HP:0012447	HP:0011400	Abnormal CNS myelination	1	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS			1
HP:0012447	HP:0012448	Delayed myelination	1	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional		7
HP:0012447	HP:0011400	Abnormal CNS myelination	1	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			7
HP:0012447	HP:0012448	Delayed myelination	1	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26	.		4
HP:0012447	HP:0011400	Abnormal CNS myelination	1	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26			4
HP:0012447	HP:0007327	Mixed demyelinating and axonal polyneuropathy	1	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012447	HP:0007327	Mixed demyelinating and axonal polyneuropathy	1	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012447	HP:0007108	Demyelinating peripheral neuropathy	1	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012447	HP:0007327	Mixed demyelinating and axonal polyneuropathy	1	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012447	HP:0007108	Demyelinating peripheral neuropathy	1	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0012447	HP:0007327	Mixed demyelinating and axonal polyneuropathy	1	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012447	HP:0007327	Mixed demyelinating and axonal polyneuropathy	1	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012447	HP:0007327	Mixed demyelinating and axonal polyneuropathy	1	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012447	HP:0012448	Delayed myelination	1	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD			28
HP:0012447	HP:0011400	Abnormal CNS myelination	1	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD			28
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012447	HP:0007108	Demyelinating peripheral neuropathy	1	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0012447	HP:0007327	Mixed demyelinating and axonal polyneuropathy	1	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012447	HP:0007108	Demyelinating peripheral neuropathy	1	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0012447	HP:0011400	Abnormal CNS myelination	1	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism			2
HP:0012447	HP:0012448	Delayed myelination	1	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.		2
HP:0012447	HP:0011400	Abnormal CNS myelination	1	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0012447	HP:0011400	Abnormal CNS myelination	1	TUBB4A CL E G H	10382	20774	OMIM:612438	Leukodystrophy, hypomyelinating, 6			66
HP:0012447	HP:0011400	Abnormal CNS myelination	1	TUFM CL E G H	7284	12420	OMIM:610678	Combined oxidative phosphorylation deficiency 4			55
HP:0012447	HP:0012448	Delayed myelination	1	TXN2 CL E G H	25828	17772	ORPHA:478029	Combined oxidative phosphorylation defect type 29	HP:0040281 - Very frequent		1
HP:0012447	HP:0011400	Abnormal CNS myelination	1	TXN2 CL E G H	25828	17772	OMIM:616811	Combined oxidative phosphorylation deficiency 29			1
HP:0012447	HP:0012448	Delayed myelination	1	TXN2 CL E G H	25828	17772	OMIM:616811	Combined oxidative phosphorylation deficiency 29			1
HP:0012447	HP:0007108	Demyelinating peripheral neuropathy	1	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent		138
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			138
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	TYROBP CL E G H	7305	12449	OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy			22
HP:0012447	HP:0012448	Delayed myelination	1	UBA5 CL E G H	79876	23230	OMIM:617132	Epileptic encephalopathy, early infantile, 44	.		13
HP:0012447	HP:0012448	Delayed myelination	1	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040282 - Frequent		278
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	UBTF CL E G H	7343	12511	OMIM:617672	Neurodegeneration, childhood-onset, with brain atrophy			1
HP:0012447	HP:0012448	Delayed myelination	1	UFC1 CL E G H	51506	26941	OMIM:618076	Neurodevelopmental disorder with spasticity and poor growth	HP:0040284 - Very rare
HP:0012447	HP:0011400	Abnormal CNS myelination	1	UGDH CL E G H	7358	12525	OMIM:618792	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0012447	HP:0012448	Delayed myelination	1	UGDH CL E G H	7358	12525	OMIM:618792	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0012447	HP:0012448	Delayed myelination	1	UPB1 CL E G H	51733	16297	OMIM:613161	Beta-Ureidopropionase deficiency			44
HP:0012447	HP:0011400	Abnormal CNS myelination	1	UPB1 CL E G H	51733	16297	OMIM:613161	Beta-Ureidopropionase deficiency			44
HP:0012447	HP:0012448	Delayed myelination	1	VPS11 CL E G H	55823	14583	OMIM:616683	Leukodystrophy, hypomyelinating, 12	.		1
HP:0012447	HP:0011400	Abnormal CNS myelination	1	VPS11 CL E G H	55823	14583	OMIM:616683	Leukodystrophy, hypomyelinating, 12			1
HP:0012447	HP:0011400	Abnormal CNS myelination	1	VPS11 CL E G H	55823	14583	ORPHA:466934	VPS11-related autosomal recessive hypomyelinating leukodystrophy			1
HP:0012447	HP:0012448	Delayed myelination	1	VPS11 CL E G H	55823	14583	ORPHA:466934	VPS11-related autosomal recessive hypomyelinating leukodystrophy			1
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis			130
HP:0012447	HP:0012448	Delayed myelination	1	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	HP:0040283 - Occasional		1
HP:0012447	HP:0011400	Abnormal CNS myelination	1	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0012447	HP:0012448	Delayed myelination	1	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0012447	HP:0007108	Demyelinating peripheral neuropathy	1	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A			32
HP:0012447	HP:0011400	Abnormal CNS myelination	1	WARS2 CL E G H	10352	12730	OMIM:617710	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures			2
HP:0012447	HP:0012448	Delayed myelination	1	WARS2 CL E G H	10352	12730	OMIM:617710	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures	.		2
HP:0012447	HP:0012448	Delayed myelination	1	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect	HP:0040282 - Frequent		2
HP:0012447	HP:0011400	Abnormal CNS myelination	1	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome			8
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	WNK1 CL E G H	65125	14540	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II			199
HP:0012447	HP:0012448	Delayed myelination	1	WWOX CL E G H	51741	12799	OMIM:616211	Epileptic encephalopathy, early infantile, 28	HP:0040283 - Occasional		149
HP:0012447	HP:0011400	Abnormal CNS myelination	1	YIF1B CL E G H	90522	30511	OMIM:619125	KAYA-BARAKAT-MASSON SYNDROME; KABAMAS
HP:0012447	HP:0011400	Abnormal CNS myelination	1	YRDC CL E G H	79693	28905	OMIM:619609	GALLOWAY-MOWAT SYNDROME 10; GAMOS10
HP:0012447	HP:0012448	Delayed myelination	1	YRDC CL E G H	79693	28905	OMIM:619609	GALLOWAY-MOWAT SYNDROME 10; GAMOS10
HP:0012447	HP:0012448	Delayed myelination	1	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome	.		7
HP:0012447	HP:0011400	Abnormal CNS myelination	1	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome			7
HP:0012447	HP:0012448	Delayed myelination	1	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040283 - Occasional		7
HP:0012447	HP:0012448	Delayed myelination	1	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome	.		19
HP:0012447	HP:0011400	Abnormal CNS myelination	1	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0012447	HP:0012448	Delayed myelination	1	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0012447	HP:0007108	Demyelinating peripheral neuropathy	1	ZFYVE26 CL E G H	23503	20761	ORPHA:100996	Autosomal recessive spastic paraplegia type 15	HP:0040282 - Frequent		189
HP:0012447	HP:0011400	Abnormal CNS myelination	1	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0012447	HP:0012448	Delayed myelination	1	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0012447	HP:0011400	Abnormal CNS myelination	1	ZNF148 CL E G H	7707	12933	OMIM:617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies			4
HP:0012447	HP:0012448	Delayed myelination	1	ZNF148 CL E G H	7707	12933	OMIM:617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies			4
HP:0012447	HP:0011400	Abnormal CNS myelination	1	ZNF335 CL E G H	63925	15807	OMIM:615095	Microcephaly 10, primary, autosomal recessive			60
HP:0012447	HP:0012448	Delayed myelination	1	ZNF335 CL E G H	63925	15807	OMIM:615095	Microcephaly 10, primary, autosomal recessive	.		60
HP:0012447	HP:0011400	Abnormal CNS myelination	1	ZNF526 CL E G H	116115	29415	OMIM:619877				24
HP:0012447	HP:0012448	Delayed myelination	1	ZNF526 CL E G H	116115	29415	OMIM:619877				24
HP:0012447	HP:0003130	Abnormal peripheral myelination	1	ZNHIT3 CL E G H	9326	12309	OMIM:260565	Peho syndrome			1
HP:0012447	HP:0030172	Peripheral amyelination	2	CL E G H
HP:0012447	HP:0012754	CNS hypermyelination	2	CL E G H
HP:0012447	HP:0003429	CNS hypomyelination	2	AARS1 CL E G H	16	20	OMIM:616339	Epileptic encephalopathy, early infantile, 29	.
HP:0012447	HP:0002188	Delayed CNS myelination	2	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0012447	HP:0002415	Leukodystrophy	2	ABAT CL E G H	18	23	OMIM:613163	GABA-transaminase deficiency	.		120
HP:0012447	HP:0011096	Peripheral demyelination	2	ABCA1 CL E G H	19	29	OMIM:205400	Tangier disease	.		191
HP:0012447	HP:0007266	Cerebral dysmyelination	2	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy	HP:0040282 - Frequent		135
HP:0012447	HP:0007305	CNS demyelination	2	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy	HP:0040281 - Very frequent		135
HP:0012447	HP:0003429	CNS hypomyelination	2	ACBD5 CL E G H	91452	23338	OMIM:618863	RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD			1
HP:0012447	HP:0002415	Leukodystrophy	2	ACER3 CL E G H	55331	16066	OMIM:617762	Leukodystrophy, progressive, early childhood-onset	.
HP:0012447	HP:0007305	CNS demyelination	2	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency	.		120
HP:0012447	HP:0002415	Leukodystrophy	2	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency	.		120
HP:0012447	HP:0002188	Delayed CNS myelination	2	ACTL6B CL E G H	51412	160	OMIM:618468	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE76			2
HP:0012447	HP:0002188	Delayed CNS myelination	2	ACY1 CL E G H	95	177	OMIM:609924	Aminoacylase 1 deficiency	.		13
HP:0012447	HP:0002415	Leukodystrophy	2	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent		116
HP:0012447	HP:0002415	Leukodystrophy	2	ADAR CL E G H	103	225	OMIM:615010	Aicardi-Goutieres syndrome 6	HP:0040283 - Occasional		116
HP:0012447	HP:0002188	Delayed CNS myelination	2	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS			1
HP:0012447	HP:0007305	CNS demyelination	2	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome			9
HP:0012447	HP:0002188	Delayed CNS myelination	2	ADAT3 CL E G H	113179	25151	OMIM:615286	Mental retardation, autosomal recessive 36			9
HP:0012447	HP:0007266	Cerebral dysmyelination	2	ADGRG1 CL E G H	9289	4512	ORPHA:101070	Bilateral frontoparietal polymicrogyria	HP:0040281 - Very frequent		88
HP:0012447	HP:0007266	Cerebral dysmyelination	2	ADGRG1 CL E G H	9289	4512	OMIM:606854	Polymicrogyria, bilateral frontoparietal	.		88
HP:0012447	HP:0003429	CNS hypomyelination	2	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency	.		118
HP:0012447	HP:0003429	CNS hypomyelination	2	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency	HP:0040282 - Frequent		31
HP:0012447	HP:0002188	Delayed CNS myelination	2	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome			36
HP:0012447	HP:0002188	Delayed CNS myelination	2	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration	.		60
HP:0012447	HP:0002415	Leukodystrophy	2	AIMP1 CL E G H	9255	10648	OMIM:260600	Leukodystrophy, hypomyelinating, 3	.		4
HP:0012447	HP:0002415	Leukodystrophy	2	AIMP2 CL E G H	7965	20609	OMIM:618006	Leukodystrophy, hypomyelinating, 17	.		1
HP:0012447	HP:0007305	CNS demyelination	2	ALDH3A2 CL E G H	224	403	OMIM:270200	Sjogren-Larsson syndrome	.		87
HP:0012447	HP:0002188	Delayed CNS myelination	2	ALDH5A1 CL E G H	7915	408	OMIM:271980	Succinic semialdehyde dehydrogenase deficiency			108
HP:0012447	HP:0002188	Delayed CNS myelination	2	ALDH7A1 CL E G H	501	877	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040283 - Occasional		227
HP:0012447	HP:0002188	Delayed CNS myelination	2	ALG13 CL E G H	79868	30881	OMIM:300884	Epileptic encephalopathy, early infantile, 36			96
HP:0012447	HP:0002188	Delayed CNS myelination	2	ALG14 CL E G H	199857	28287	OMIM:619031	INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES; IDDEBF			12
HP:0012447	HP:0002188	Delayed CNS myelination	2	ALG14 CL E G H	199857	28287	OMIM:619036	MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA			12
HP:0012447	HP:0003429	CNS hypomyelination	2	ALG2 CL E G H	85365	23159	ORPHA:79326	ALG2-CDG			46
HP:0012447	HP:0002188	Delayed CNS myelination	2	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii			46
HP:0012447	HP:0002415	Leukodystrophy	2	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG	HP:0040283 - Occasional		46
HP:0012447	HP:0002188	Delayed CNS myelination	2	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il			93
HP:0012447	HP:0003429	CNS hypomyelination	2	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040282 - Frequent		114
HP:0012447	HP:0002188	Delayed CNS myelination	2	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10			1
HP:0012447	HP:0003380	Decreased number of peripheral myelinated nerve fibers	2	APTX CL E G H	54840	15984	OMIM:208920	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia			61
HP:0012447	HP:0002188	Delayed CNS myelination	2	ARF1 CL E G H	375	652	OMIM:618185	Periventricular nodular heterotopia 8
HP:0012447	HP:0011096	Peripheral demyelination	2	ARHGEF10 CL E G H	9639	14103	OMIM:608236	Slowed nerve conduction velocity, autosomal dominant	.		12
HP:0012447	HP:0003383	Onion bulb formation	2	ARHGEF10 CL E G H	9639	14103	OMIM:608236	Slowed nerve conduction velocity, autosomal dominant	.		12
HP:0012447	HP:0002188	Delayed CNS myelination	2	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0012447	HP:0011096	Peripheral demyelination	2	ARSA CL E G H	410	713	OMIM:250100	Metachromatic leukodystrophy	.		253
HP:0012447	HP:0002415	Leukodystrophy	2	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040282 - Frequent		253
HP:0012447	HP:0002415	Leukodystrophy	2	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040282 - Frequent		253
HP:0012447	HP:0002415	Leukodystrophy	2	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form	HP:0040282 - Frequent		253
HP:0012447	HP:0002188	Delayed CNS myelination	2	ARX CL E G H	170302	18060	OMIM:308350	Developmental and epileptic encephalopathy 1			166
HP:0012447	HP:0002188	Delayed CNS myelination	2	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0012447	HP:0007305	CNS demyelination	2	ASPA CL E G H	443	756	OMIM:271900	Canavan disease			48
HP:0012447	HP:0011401	Delayed peripheral myelination	2	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.		145
HP:0012447	HP:0002415	Leukodystrophy	2	ATP11A CL E G H	23250	13552	OMIM:619851	LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0012447	HP:0002188	Delayed CNS myelination	2	ATP1A3 CL E G H	478	801	OMIM:619606	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99			150
HP:0012447	HP:0011096	Peripheral demyelination	2	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012447	HP:0002188	Delayed CNS myelination	2	ATP6AP2 CL E G H	10159	18305	OMIM:300423	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH			36
HP:0012447	HP:0003429	CNS hypomyelination	2	ATP6V1A CL E G H	523	851	OMIM:618012	Epileptic encephalopathy, infantile or early childhood, 3	.		3
HP:0012447	HP:0007305	CNS demyelination	2	ATXN2 CL E G H	6311	10555	ORPHA:98756	Spinocerebellar ataxia type 2			11
HP:0012447	HP:0003429	CNS hypomyelination	2	BCAP31 CL E G H	10134	16695	OMIM:300475	Deafness, dystonia, and cerebral hypomyelination	.		8
HP:0012447	HP:0003429	CNS hypomyelination	2	BCAP31 CL E G H	10134	16695	ORPHA:369939	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome	HP:0040283 - Occasional		8
HP:0012447	HP:0002188	Delayed CNS myelination	2	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1			72
HP:0012447	HP:0002188	Delayed CNS myelination	2	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6			38
HP:0012447	HP:0002415	Leukodystrophy	2	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia	.		14
HP:0012447	HP:0002188	Delayed CNS myelination	2	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal			20
HP:0012447	HP:0002188	Delayed CNS myelination	2	C18ORF32 CL E G H	497661	31690	OMIM:619985
HP:0012447	HP:0003429	CNS hypomyelination	2	C2ORF69 CL E G H	205327	26799	OMIM:619423	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53
HP:0012447	HP:0002188	Delayed CNS myelination	2	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0012447	HP:0007266	Cerebral dysmyelination	2	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0012447	HP:0002188	Delayed CNS myelination	2	CDC40 CL E G H	51362	17350	OMIM:619302	PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0012447	HP:0002188	Delayed CNS myelination	2	CDK19 CL E G H	23097	19338	OMIM:618916	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87
HP:0012447	HP:0002188	Delayed CNS myelination	2	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40			16
HP:0012447	HP:0003429	CNS hypomyelination	2	CHKA CL E G H	1119	1937	OMIM:620023
HP:0012447	HP:0002188	Delayed CNS myelination	2	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0012447	HP:0002188	Delayed CNS myelination	2	CLCN3 CL E G H	1182	2021	OMIM:619517	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA			2
HP:0012447	HP:0002188	Delayed CNS myelination	2	CLCN7 CL E G H	1186	2025	OMIM:618541	Hypopigmentation, organomegaly, and delayed myelination and development			102
HP:0012447	HP:0003429	CNS hypomyelination	2	CLDN11 CL E G H	5010	8514	OMIM:619328	Leukodystrophy, hypomyelinating, 22
HP:0012447	HP:0002188	Delayed CNS myelination	2	CLPB CL E G H	81570	30664	OMIM:619835	3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA; MGCA7A			38
HP:0012447	HP:0002188	Delayed CNS myelination	2	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56			1
HP:0012447	HP:0002188	Delayed CNS myelination	2	CLTCL1 CL E G H	8218	2093	ORPHA:453510	Congenital insensitivity to pain with severe intellectual disability	HP:0040282 - Frequent		6
HP:0012447	HP:0002188	Delayed CNS myelination	2	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0012447	HP:0003429	CNS hypomyelination	2	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3	.		9
HP:0012447	HP:0002415	Leukodystrophy	2	COA8 CL E G H	84334	20492	OMIM:619061	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17; MC4DN17
HP:0012447	HP:0002188	Delayed CNS myelination	2	COPB2 CL E G H	9276	2232	OMIM:619884
HP:0012447	HP:0002188	Delayed CNS myelination	2	COPB2 CL E G H	9276	2232	OMIM:617800	Microcephaly 19, primary, autosomal recessive
HP:0012447	HP:0011096	Peripheral demyelination	2	COQ7 CL E G H	10229	2244	OMIM:616733	Coenzyme Q10 deficiency, primary, 8			1
HP:0012447	HP:0002415	Leukodystrophy	2	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		104
HP:0012447	HP:0003383	Onion bulb formation	2	COX6A1 CL E G H	1337	2277	OMIM:616039	Charcot-Marie-Tooth disease, recessive intermediate D	.		4
HP:0012447	HP:0002415	Leukodystrophy	2	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7			10
HP:0012447	HP:0007305	CNS demyelination	2	CSF1R CL E G H	1436	2433	OMIM:221820	Leukoencephalopathy, diffuse hereditary, with spheroids	.		149
HP:0012447	HP:0002415	Leukodystrophy	2	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts	.		160
HP:0012447	HP:0011096	Peripheral demyelination	2	CTDP1 CL E G H	9150	2498	OMIM:604168	Congenital cataracts, facial dysmorphism, and neuropathy	.		17
HP:0012447	HP:0007182	Peripheral hypomyelination	2	CTDP1 CL E G H	9150	2498	OMIM:604168	Congenital cataracts, facial dysmorphism, and neuropathy	.		17
HP:0012447	HP:0002188	Delayed CNS myelination	2	CTNNB1 CL E G H	1499	2514	ORPHA:404473	Severe intellectual disability-progressive spastic diplegia syndrome	HP:0040283 - Occasional		88
HP:0012447	HP:0007266	Cerebral dysmyelination	2	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis			39
HP:0012447	HP:0002188	Delayed CNS myelination	2	CUL3 CL E G H	8452	2553	OMIM:619239	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS			92
HP:0012447	HP:0003429	CNS hypomyelination	2	CYB5A CL E G H	1528	2570	ORPHA:621	Hereditary methemoglobinemia			2
HP:0012447	HP:0003429	CNS hypomyelination	2	CYB5R3 CL E G H	1727	2873	ORPHA:621	Hereditary methemoglobinemia			24
HP:0012447	HP:0007305	CNS demyelination	2	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040283 - Occasional		114
HP:0012447	HP:0002188	Delayed CNS myelination	2	D2HGDH CL E G H	728294	28358	OMIM:600721	D-2-Hydroxyglutaric aciduria 1	.		102
HP:0012447	HP:0002415	Leukodystrophy	2	DAG1 CL E G H	1605	2666	ORPHA:370997	Muscle-eye-brain disease with bilateral multicystic leucodystrophy	HP:0040282 - Frequent		108
HP:0012447	HP:0002415	Leukodystrophy	2	DAG1 CL E G H	1605	2666	OMIM:616538	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9	.		108
HP:0012447	HP:0003429	CNS hypomyelination	2	DALRD3 CL E G H	55152	25536	OMIM:618910	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86; DEE86
HP:0012447	HP:0003429	CNS hypomyelination	2	DARS1 CL E G H	1615	2678	OMIM:615281	HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0012447	HP:0002415	Leukodystrophy	2	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome			60
HP:0012447	HP:0003383	Onion bulb formation	2	DCAF8 CL E G H	50717	24891	OMIM:610100	Giant axonal neuropathy, autosomal dominant	.		2
HP:0012447	HP:0003429	CNS hypomyelination	2	DDOST CL E G H	1650	2728	ORPHA:300536	DDOST-CDG	HP:0040281 - Very frequent		62
HP:0012447	HP:0002188	Delayed CNS myelination	2	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0012447	HP:0003380	Decreased number of peripheral myelinated nerve fibers	2	DHH CL E G H	50846	2865	OMIM:607080	46,XY GONADAL DYSGENESIS, PARTIAL, WITH MINIFASCICULAR NEUROPATHY			21
HP:0012447	HP:0007182	Peripheral hypomyelination	2	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0012447	HP:0002188	Delayed CNS myelination	2	DHX37 CL E G H	57647	17210	OMIM:618731	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC			2
HP:0012447	HP:0002188	Delayed CNS myelination	2	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1			94
HP:0012447	HP:0003380	Decreased number of peripheral myelinated nerve fibers	2	DNM2 CL E G H	1785	2974	OMIM:606482	Charcot-Marie-Tooth disease, dominant intermediate B	.		167
HP:0012447	HP:0003383	Onion bulb formation	2	DNM2 CL E G H	1785	2974	OMIM:606482	Charcot-Marie-Tooth disease, dominant intermediate B	.		167
HP:0012447	HP:0011096	Peripheral demyelination	2	DNM2 CL E G H	1785	2974	OMIM:606482	Charcot-Marie-Tooth disease, dominant intermediate B			167
HP:0012447	HP:0003380	Decreased number of peripheral myelinated nerve fibers	2	DNMT1 CL E G H	1786	2976	OMIM:614116	Neuropathy, hereditary sensory, type IE	.		145
HP:0012447	HP:0002188	Delayed CNS myelination	2	DOHH CL E G H	83475	28662	OMIM:620066
HP:0012447	HP:0003429	CNS hypomyelination	2	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG	HP:0040283 - Occasional		38
HP:0012447	HP:0003429	CNS hypomyelination	2	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:0012447	HP:0002415	Leukodystrophy	2	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		33
HP:0012447	HP:0002415	Leukodystrophy	2	EDNRB CL E G H	1910	3180	OMIM:277580	Waardenburg-Shah syndrome	.		55
HP:0012447	HP:0030173	Peripheral hypermyelination	2	EGR2 CL E G H	1959	3239	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			58
HP:0012447	HP:0003383	Onion bulb formation	2	EGR2 CL E G H	1959	3239	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.		58
HP:0012447	HP:0011096	Peripheral demyelination	2	EGR2 CL E G H	1959	3239	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			58
HP:0012447	HP:0003380	Decreased number of peripheral myelinated nerve fibers	2	EGR2 CL E G H	1959	3239	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.		58
HP:0012447	HP:0007182	Peripheral hypomyelination	2	EGR2 CL E G H	1959	3239	OMIM:605253	Neuropathy, congenital hypomyelinating, 1, autosomal recessive	.		58
HP:0012447	HP:0003383	Onion bulb formation	2	EGR2 CL E G H	1959	3239	OMIM:605253	Neuropathy, congenital hypomyelinating, 1, autosomal recessive	.		58
HP:0012447	HP:0002188	Delayed CNS myelination	2	EIF2AK2 CL E G H	5610	9437	OMIM:618877	LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0012447	HP:0003429	CNS hypomyelination	2	EIF2B1 CL E G H	1967	3257	OMIM:603896	Leukoencephalopathy with vanishing white matter			42
HP:0012447	HP:0007305	CNS demyelination	2	EIF2B1 CL E G H	1967	3257	OMIM:603896	Leukoencephalopathy with vanishing white matter	.		42
HP:0012447	HP:0003429	CNS hypomyelination	2	EIF2B2 CL E G H	8892	3258	OMIM:603896	Leukoencephalopathy with vanishing white matter			24
HP:0012447	HP:0007305	CNS demyelination	2	EIF2B2 CL E G H	8892	3258	OMIM:603896	Leukoencephalopathy with vanishing white matter	.		24
HP:0012447	HP:0007305	CNS demyelination	2	EIF2B3 CL E G H	8891	3259	OMIM:603896	Leukoencephalopathy with vanishing white matter	.		32
HP:0012447	HP:0003429	CNS hypomyelination	2	EIF2B3 CL E G H	8891	3259	OMIM:603896	Leukoencephalopathy with vanishing white matter			32
HP:0012447	HP:0007305	CNS demyelination	2	EIF2B4 CL E G H	8890	3260	OMIM:603896	Leukoencephalopathy with vanishing white matter	.		38
HP:0012447	HP:0003429	CNS hypomyelination	2	EIF2B4 CL E G H	8890	3260	OMIM:603896	Leukoencephalopathy with vanishing white matter			38
HP:0012447	HP:0007305	CNS demyelination	2	EIF2B5 CL E G H	8893	3261	OMIM:603896	Leukoencephalopathy with vanishing white matter	.		48
HP:0012447	HP:0003429	CNS hypomyelination	2	EIF2B5 CL E G H	8893	3261	OMIM:603896	Leukoencephalopathy with vanishing white matter			48
HP:0012447	HP:0003429	CNS hypomyelination	2	ELOVL1 CL E G H	64834	14418	OMIM:618527	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0012447	HP:0003380	Decreased number of peripheral myelinated nerve fibers	2	ELP1 CL E G H	8518	5959	OMIM:223900	Neuropathy, hereditary sensory and autonomic, type III			133
HP:0012447	HP:0003429	CNS hypomyelination	2	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15
HP:0012447	HP:0002415	Leukodystrophy	2	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15	.
HP:0012447	HP:0007305	CNS demyelination	2	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2			20
HP:0012447	HP:0007266	Cerebral dysmyelination	2	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		106
HP:0012447	HP:0007266	Cerebral dysmyelination	2	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		54
HP:0012447	HP:0007305	CNS demyelination	2	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1			199
HP:0012447	HP:0007305	CNS demyelination	2	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2			199
HP:0012447	HP:0003469	Peripheral dysmyelination	2	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.		199
HP:0012447	HP:0007305	CNS demyelination	2	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B			199
HP:0012447	HP:0002415	Leukodystrophy	2	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome			199
HP:0012447	HP:0007305	CNS demyelination	2	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A			55
HP:0012447	HP:0003469	Peripheral dysmyelination	2	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A	.		55
HP:0012447	HP:0007305	CNS demyelination	2	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2			55
HP:0012447	HP:0003429	CNS hypomyelination	2	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH			1
HP:0012447	HP:0002188	Delayed CNS myelination	2	EXOC8 CL E G H	149371	24659	OMIM:619076	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY; NEDMISB			1
HP:0012447	HP:0002188	Delayed CNS myelination	2	EXOSC1 CL E G H	51013	17286	OMIM:619304	PONTOCEREBELLAR HYPOPLASIA, TYPE 1F; PCH1F
HP:0012447	HP:0003429	CNS hypomyelination	2	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0012447	HP:0002415	Leukodystrophy	2	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0012447	HP:0002188	Delayed CNS myelination	2	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome			81
HP:0012447	HP:0011096	Peripheral demyelination	2	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35	HP:0040283 - Occasional		76
HP:0012447	HP:0002415	Leukodystrophy	2	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive			76
HP:0012447	HP:0002188	Delayed CNS myelination	2	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB			58
HP:0012447	HP:0002188	Delayed CNS myelination	2	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L			53
HP:0012447	HP:0002188	Delayed CNS myelination	2	FAR1 CL E G H	84188	26222	OMIM:616154	PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD			7
HP:0012447	HP:0002415	Leukodystrophy	2	FBP2 CL E G H	8789	3607	OMIM:619864
HP:0012447	HP:0002415	Leukodystrophy	2	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	.		384
HP:0012447	HP:0002188	Delayed CNS myelination	2	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0012447	HP:0002188	Delayed CNS myelination	2	FCSK CL E G H	197258	29500	OMIM:618324	Congenital disorder of glycosylation with defective fucosylation 2
HP:0012447	HP:0003383	Onion bulb formation	2	FGD4 CL E G H	121512	19125	OMIM:609311	Charcot-marie-tooth disease, type 4H			158
HP:0012447	HP:0007182	Peripheral hypomyelination	2	FGD4 CL E G H	121512	19125	OMIM:609311	Charcot-marie-tooth disease, type 4H			158
HP:0012447	HP:0003380	Decreased number of peripheral myelinated nerve fibers	2	FGD4 CL E G H	121512	19125	OMIM:609311	Charcot-marie-tooth disease, type 4H			158
HP:0012447	HP:0007182	Peripheral hypomyelination	2	FIG4 CL E G H	9896	16873	OMIM:611228	Charcot-Marie-Tooth disease, type 4J			111
HP:0012447	HP:0003383	Onion bulb formation	2	FIG4 CL E G H	9896	16873	OMIM:611228	Charcot-Marie-Tooth disease, type 4J	.		111
HP:0012447	HP:0003380	Decreased number of peripheral myelinated nerve fibers	2	FLRT1 CL E G H	23769	3760	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome	HP:0040282 - Frequent
HP:0012447	HP:0011096	Peripheral demyelination	2	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa			111
HP:0012447	HP:0002188	Delayed CNS myelination	2	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0012447	HP:0002188	Delayed CNS myelination	2	FOXP1 CL E G H	27086	3823	OMIM:613670	Mental retardation with language impairment and with or without autistic features			184
HP:0012447	HP:0002415	Leukodystrophy	2	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		61
HP:0012447	HP:0002415	Leukodystrophy	2	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		61
HP:0012447	HP:0002188	Delayed CNS myelination	2	FRMD5 CL E G H	84978	28214	OMIM:620094
HP:0012447	HP:0002188	Delayed CNS myelination	2	FRMPD4 CL E G H	9758	29007	OMIM:300983	MENTAL RETARDATION, X-LINKED 104; MRX104			32
HP:0012447	HP:0003429	CNS hypomyelination	2	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040282 - Frequent		105
HP:0012447	HP:0003429	CNS hypomyelination	2	GABRA2 CL E G H	2555	4076	OMIM:618557	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 78; DEE78			4
HP:0012447	HP:0003429	CNS hypomyelination	2	GABRA5 CL E G H	2558	4079	OMIM:618559	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79; DEE79
HP:0012447	HP:0011096	Peripheral demyelination	2	GALC CL E G H	2581	4115	ORPHA:206448	Adult Krabbe disease	HP:0040283 - Occasional		160
HP:0012447	HP:0007305	CNS demyelination	2	GALC CL E G H	2581	4115	ORPHA:206448	Adult Krabbe disease	HP:0040282 - Frequent		160
HP:0012447	HP:0011096	Peripheral demyelination	2	GALC CL E G H	2581	4115	OMIM:245200	Krabbe disease	.		160
HP:0012447	HP:0007305	CNS demyelination	2	GALC CL E G H	2581	4115	OMIM:245200	Krabbe disease	.		160
HP:0012447	HP:0003429	CNS hypomyelination	2	GAN CL E G H	8139	4137	ORPHA:643	Giant axonal neuropathy	HP:0040281 - Very frequent		121
HP:0012447	HP:0003380	Decreased number of peripheral myelinated nerve fibers	2	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive	.		121
HP:0012447	HP:0011096	Peripheral demyelination	2	GBF1 CL E G H	8729	4181	OMIM:606483	Charcot-Marie-Tooth disease, dominant intermediate A
HP:0012447	HP:0003383	Onion bulb formation	2	GBF1 CL E G H	8729	4181	OMIM:606483	Charcot-Marie-Tooth disease, dominant intermediate A	.
HP:0012447	HP:0011096	Peripheral demyelination	2	GCDH CL E G H	2639	4189	OMIM:231670	Glutaric acidemia I			115
HP:0012447	HP:0011096	Peripheral demyelination	2	GDAP1 CL E G H	54332	15968	ORPHA:99944	Autosomal dominant Charcot-Marie-Tooth disease type 2K	HP:0040282 - Frequent		108
HP:0012447	HP:0003380	Decreased number of peripheral myelinated nerve fibers	2	GDAP1 CL E G H	54332	15968	ORPHA:101097	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness			108
HP:0012447	HP:0011096	Peripheral demyelination	2	GDAP1 CL E G H	54332	15968	ORPHA:101097	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness			108
HP:0012447	HP:0003380	Decreased number of peripheral myelinated nerve fibers	2	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A			108
HP:0012447	HP:0003380	Decreased number of peripheral myelinated nerve fibers	2	GDAP1 CL E G H	54332	15968	OMIM:607831	Charcot-Marie-Tooth disease, axonal, type 2K	.		108
HP:0012447	HP:0003380	Decreased number of peripheral myelinated nerve fibers	2	GDAP1 CL E G H	54332	15968	OMIM:607706	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive	.		108
HP:0012447	HP:0003383	Onion bulb formation	2	GDAP1 CL E G H	54332	15968	OMIM:607706	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive	HP:0040283 - Occasional		108
HP:0012447	HP:0003383	Onion bulb formation	2	GDAP1 CL E G H	54332	15968	OMIM:608340	Charcot-Marie-Tooth disease, recessive intermediate A	.		108
HP:0012447	HP:0003380	Decreased number of peripheral myelinated nerve fibers	2	GDAP1 CL E G H	54332	15968	OMIM:608340	Charcot-Marie-Tooth disease, recessive intermediate A			108
HP:0012447	HP:0011096	Peripheral demyelination	2	GDAP1 CL E G H	54332	15968	OMIM:608340	Charcot-Marie-Tooth disease, recessive intermediate A	.		108
HP:0012447	HP:0003429	CNS hypomyelination	2	GDAP1 CL E G H	54332	15968	OMIM:214400	Charcot-Marie-Tooth disease, type 4A	.		108
HP:0012447	HP:0011096	Peripheral demyelination	2	GDAP1 CL E G H	54332	15968	OMIM:214400	Charcot-Marie-Tooth disease, type 4A			108
HP:0012447	HP:0003383	Onion bulb formation	2	GDAP1 CL E G H	54332	15968	OMIM:214400	Charcot-Marie-Tooth disease, type 4A			108
HP:0012447	HP:0003380	Decreased number of peripheral myelinated nerve fibers	2	GDAP1 CL E G H	54332	15968	OMIM:214400	Charcot-Marie-Tooth disease, type 4A	.		108
HP:0012447	HP:0002188	Delayed CNS myelination	2	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities			1
HP:0012447	HP:0007305	CNS demyelination	2	GFAP CL E G H	2670	4235	OMIM:203450	Alexander disease			188
HP:0012447	HP:0003380	Decreased number of peripheral myelinated nerve fibers	2	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1			107
HP:0012447	HP:0003383	Onion bulb formation	2	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1			107
HP:0012447	HP:0003429	CNS hypomyelination	2	GJC2 CL E G H	57165	17494	ORPHA:320401	Autosomal recessive spastic paraplegia type 44	HP:0040281 - Very frequent		37
HP:0012447	HP:0007220	Demyelinating motor neuropathy	2	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2	.		37
HP:0012447	HP:0003429	CNS hypomyelination	2	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2			37
HP:0012447	HP:0002415	Leukodystrophy	2	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2	.		37
HP:0012447	HP:0002415	Leukodystrophy	2	GLRX5 CL E G H	51218	20134	ORPHA:401866	Childhood-onset spasticity with hyperglycinemia	HP:0040282 - Frequent		17
HP:0012447	HP:0002415	Leukodystrophy	2	GLRX5 CL E G H	51218	20134	OMIM:616859	Spasticity, childhood-onset, with hyperglycinemia			17
HP:0012447	HP:0002188	Delayed CNS myelination	2	GLS CL E G H	2744	4331	OMIM:618339	Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development
HP:0012447	HP:0003429	CNS hypomyelination	2	GLUL CL E G H	2752	4341	OMIM:610015	GLUTAMINE DEFICIENCY, CONGENITAL			98
HP:0012447	HP:0002188	Delayed CNS myelination	2	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA			6
HP:0012447	HP:0002188	Delayed CNS myelination	2	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0012447	HP:0003383	Onion bulb formation	2	GNB4 CL E G H	59345	20731	OMIM:615185	Charcot-Marie-Tooth disease, dominant intermediate F	.		12
HP:0012447	HP:0002188	Delayed CNS myelination	2	GRIK2 CL E G H	2898	4580	OMIM:619580	NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS			32
HP:0012447	HP:0003429	CNS hypomyelination	2	GRIK2 CL E G H	2898	4580	OMIM:619580	NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS			32
HP:0012447	HP:0003429	CNS hypomyelination	2	GRM7 CL E G H	2917	4599	OMIM:618922	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA			5
HP:0012447	HP:0007266	Cerebral dysmyelination	2	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		2
HP:0012447	HP:0007266	Cerebral dysmyelination	2	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0012447	HP:0002188	Delayed CNS myelination	2	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive			3
HP:0012447	HP:0002415	Leukodystrophy	2	GTPBP3 CL E G H	84705	14880	ORPHA:444013	Combined oxidative phosphorylation defect type 23	HP:0040283 - Occasional		30
HP:0012447	HP:0002188	Delayed CNS myelination	2	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0012447	HP:0011401	Delayed peripheral myelination	2	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome	HP:0040283 - Occasional		10
HP:0012447	HP:0003429	CNS hypomyelination	2	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease			80
HP:0012447	HP:0003429	CNS hypomyelination	2	HEXB CL E G H	3074	4879	ORPHA:309155	Sandhoff disease, infantile form			80
HP:0012447	HP:0002415	Leukodystrophy	2	HIKESHI CL E G H	51501	26938	OMIM:616881	Leukodystrophy, hypomyelinating, 13	.		3
HP:0012447	HP:0011096	Peripheral demyelination	2	HK1 CL E G H	3098	4922	ORPHA:99953	Charcot-Marie-Tooth disease type 4G	HP:0040281 - Very frequent		11
HP:0012447	HP:0007182	Peripheral hypomyelination	2	HK1 CL E G H	3098	4922	OMIM:605285	Neuropathy, hereditary motor and sensory, Russe type	.		11
HP:0012447	HP:0003380	Decreased number of peripheral myelinated nerve fibers	2	HK1 CL E G H	3098	4922	OMIM:605285	Neuropathy, hereditary motor and sensory, Russe type			11
HP:0012447	HP:0007305	CNS demyelination	2	HLA-DQB1 CL E G H	3119	4944	OMIM:126200	Multiple sclerosis, susceptibility to	.
HP:0012447	HP:0007305	CNS demyelination	2	HLA-DRB1 CL E G H	3123	4948	OMIM:126200	Multiple sclerosis, susceptibility to	.		2
HP:0012447	HP:0002188	Delayed CNS myelination	2	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0012447	HP:0007266	Cerebral dysmyelination	2	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency			98
HP:0012447	HP:0003380	Decreased number of peripheral myelinated nerve fibers	2	HSPB8 CL E G H	26353	30171	OMIM:608673	Charcot-Marie-Tooth disease, axonal, type 2L			38
HP:0012447	HP:0002415	Leukodystrophy	2	HSPD1 CL E G H	3329	5261	OMIM:612233	Leukodystrophy, hypomyelinating, 4	.		46
HP:0012447	HP:0007305	CNS demyelination	2	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)			34
HP:0012447	HP:0003429	CNS hypomyelination	2	HYCC1 CL E G H	84668	24587	ORPHA:85163	Hypomyelination-congenital cataract syndrome
HP:0012447	HP:0003429	CNS hypomyelination	2	HYCC1 CL E G H	84668	24587	OMIM:610532	Leukodystrophy, hypomyelinating, 5
HP:0012447	HP:0003383	Onion bulb formation	2	HYCC1 CL E G H	84668	24587	OMIM:610532	Leukodystrophy, hypomyelinating, 5	.
HP:0012447	HP:0002415	Leukodystrophy	2	HYCC1 CL E G H	84668	24587	OMIM:610532	Leukodystrophy, hypomyelinating, 5	.
HP:0012447	HP:0002415	Leukodystrophy	2	IBA57 CL E G H	200205	27302	OMIM:615330	Multiple mitochondrial dysfunctions syndrome 3	.		16
HP:0012447	HP:0002415	Leukodystrophy	2	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent		28
HP:0012447	HP:0003383	Onion bulb formation	2	INF2 CL E G H	64423	23791	OMIM:614455	Charcot-Marie-Tooth disease, dominant intermediate E	.		135
HP:0012447	HP:0007305	CNS demyelination	2	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome	HP:0040283 - Occasional		229
HP:0012447	HP:0003429	CNS hypomyelination	2	INTU CL E G H	27152	29239	OMIM:617926	OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0012447	HP:0002415	Leukodystrophy	2	ISCA1 CL E G H	81689	28660	OMIM:617613	Multiple mitochondrial dysfunctions syndrome 5	.		1
HP:0012447	HP:0002415	Leukodystrophy	2	ISCA2 CL E G H	122961	19857	OMIM:616370	Multiple mitochondrial dysfunctions syndrome 4	.		7
HP:0012447	HP:0002188	Delayed CNS myelination	2	ITPA CL E G H	3704	6176	OMIM:616647	Epileptic encephalopathy, early infantile, 35			8
HP:0012447	HP:0003380	Decreased number of peripheral myelinated nerve fibers	2	JPH1 CL E G H	56704	14201	OMIM:607831	Charcot-Marie-Tooth disease, axonal, type 2K	.		1
HP:0012447	HP:0002415	Leukodystrophy	2	KARS1 CL E G H	3735	6215	OMIM:619196	DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY; DEAPLE
HP:0012447	HP:0002188	Delayed CNS myelination	2	KCNC2 CL E G H	3747	6234	OMIM:619913
HP:0012447	HP:0007182	Peripheral hypomyelination	2	KCNJ10 CL E G H	3766	6256	ORPHA:199343	EAST syndrome	HP:0040283 - Occasional		121
HP:0012447	HP:0007182	Peripheral hypomyelination	2	KCNJ10 CL E G H	3766	6256	OMIM:612780	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance	HP:0040283 - Occasional		121
HP:0012447	HP:0002188	Delayed CNS myelination	2	KCNN2 CL E G H	3781	6291	OMIM:619725	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0012447	HP:0002188	Delayed CNS myelination	2	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features			3
HP:0012447	HP:0002188	Delayed CNS myelination	2	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO			4
HP:0012447	HP:0003380	Decreased number of peripheral myelinated nerve fibers	2	KIF1A CL E G H	547	888	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.		276
HP:0012447	HP:0003380	Decreased number of peripheral myelinated nerve fibers	2	KIF1B CL E G H	23095	16636	OMIM:118210	Charcot-Marie-Tooth disease, axonal, type 2A1	.		202
HP:0012447	HP:0003383	Onion bulb formation	2	KIF1B CL E G H	23095	16636	OMIM:118210	Charcot-Marie-Tooth disease, axonal, type 2A1	.		202
HP:0012447	HP:0011096	Peripheral demyelination	2	KIF1C CL E G H	10749	6317	ORPHA:397946	Autosomal spastic paraplegia type 58	HP:0040282 - Frequent		38
HP:0012447	HP:0003380	Decreased number of peripheral myelinated nerve fibers	2	KLC2 CL E G H	64837	20716	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome	HP:0040282 - Frequent		1
HP:0012447	HP:0007305	CNS demyelination	2	L2HGDH CL E G H	79944	20499	OMIM:236792	L-2-Hydroxyglutaric aciduria			34
HP:0012447	HP:0003429	CNS hypomyelination	2	LEMD2 CL E G H	221496	21244	OMIM:619322	MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS			1
HP:0012447	HP:0002415	Leukodystrophy	2	LIAS CL E G H	11019	16429	OMIM:614462	Hyperglycinemia, lactic acidosis, and seizures	HP:0040283 - Occasional		31
HP:0012447	HP:0003380	Decreased number of peripheral myelinated nerve fibers	2	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			1
HP:0012447	HP:0002415	Leukodystrophy	2	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		21
HP:0012447	HP:0002188	Delayed CNS myelination	2	LIPT1 CL E G H	51601	29569	OMIM:616299	Lipoyltransferase 1 deficiency			21
HP:0012447	HP:0002188	Delayed CNS myelination	2	LIPT2 CL E G H	387787	37216	OMIM:617668	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities			2
HP:0012447	HP:0003383	Onion bulb formation	2	LITAF CL E G H	9516	16841	OMIM:601098	Charcot-Marie-Tooth disease, demyelinating, type 1C	.		74
HP:0012447	HP:0011096	Peripheral demyelination	2	LITAF CL E G H	9516	16841	OMIM:601098	Charcot-Marie-Tooth disease, demyelinating, type 1C			74
HP:0012447	HP:0003380	Decreased number of peripheral myelinated nerve fibers	2	LMNA CL E G H	4000	6636	ORPHA:98856	Charcot-Marie-Tooth disease type 2B1			645
HP:0012447	HP:0003380	Decreased number of peripheral myelinated nerve fibers	2	LMNA CL E G H	4000	6636	OMIM:605588	Charcot-Marie-Tooth disease, axonal, type 2B1	.		645
HP:0012447	HP:0003383	Onion bulb formation	2	LMNA CL E G H	4000	6636	OMIM:605588	Charcot-Marie-Tooth disease, axonal, type 2B1	.		645
HP:0012447	HP:0002415	Leukodystrophy	2	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant			44
HP:0012447	HP:0011096	Peripheral demyelination	2	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant			44
HP:0012447	HP:0002188	Delayed CNS myelination	2	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040283 - Occasional		165
HP:0012447	HP:0007305	CNS demyelination	2	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type	.		191
HP:0012447	HP:0011096	Peripheral demyelination	2	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type	.		191
HP:0012447	HP:0002415	Leukodystrophy	2	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent
HP:0012447	HP:0002188	Delayed CNS myelination	2	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0012447	HP:0002188	Delayed CNS myelination	2	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH			5
HP:0012447	HP:0011096	Peripheral demyelination	2	MAT1A CL E G H	4143	6903	OMIM:250850	METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY	.		82
HP:0012447	HP:0007305	CNS demyelination	2	MAT1A CL E G H	4143	6903	OMIM:250850	METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY	.		82
HP:0012447	HP:0007266	Cerebral dysmyelination	2	MCOLN1 CL E G H	57192	13356	OMIM:252650	Mucolipidosis IV	.		78
HP:0012447	HP:0002188	Delayed CNS myelination	2	MDH2 CL E G H	4191	6971	OMIM:617339	Epileptic encephalopathy, early infantile, 51			4
HP:0012447	HP:0003429	CNS hypomyelination	2	MED27 CL E G H	9442	2377	OMIM:619286	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0012447	HP:0003383	Onion bulb formation	2	MFN2 CL E G H	9927	16877	OMIM:609260	Charcot-marie-tooth disease, axonal, type 2A2A	.		203
HP:0012447	HP:0003380	Decreased number of peripheral myelinated nerve fibers	2	MFN2 CL E G H	9927	16877	OMIM:609260	Charcot-marie-tooth disease, axonal, type 2A2A	.		203
HP:0012447	HP:0002188	Delayed CNS myelination	2	MLYCD CL E G H	23417	7150	OMIM:248360	Malonyl-CoA decarboxylase deficiency			80
HP:0012447	HP:0011096	Peripheral demyelination	2	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040283 - Occasional		101
HP:0012447	HP:0007305	CNS demyelination	2	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC			101
HP:0012447	HP:0003380	Decreased number of peripheral myelinated nerve fibers	2	MME CL E G H	4311	7154	ORPHA:497764	Spinocerebellar ataxia type 43			18
HP:0012447	HP:0002188	Delayed CNS myelination	2	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency	.
HP:0012447	HP:0011096	Peripheral demyelination	2	MOCS1 CL E G H	4337	7190	OMIM:252150	Molybdenum cofactor deficiency, complementation group A	.		96
HP:0012447	HP:0011096	Peripheral demyelination	2	MOCS2 CL E G H	4338	7193	OMIM:252160	Molybdenum cofactor deficiency, complementation group B	.		26
HP:0012447	HP:0002188	Delayed CNS myelination	2	MORC2 CL E G H	22880	23573	OMIM:619090	DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY; DIGFAN			8
HP:0012447	HP:0007266	Cerebral dysmyelination	2	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		9
HP:0012447	HP:0003380	Decreased number of peripheral myelinated nerve fibers	2	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy	.		56
HP:0012447	HP:0003469	Peripheral dysmyelination	2	MPZ CL E G H	4359	7225	ORPHA:101082	Charcot-Marie-Tooth disease type 1B	HP:0040282 - Frequent		134
HP:0012447	HP:0003380	Decreased number of peripheral myelinated nerve fibers	2	MPZ CL E G H	4359	7225	OMIM:607677	Charcot-Marie-Tooth disease, axonal, type 2I	.		134
HP:0012447	HP:0003380	Decreased number of peripheral myelinated nerve fibers	2	MPZ CL E G H	4359	7225	OMIM:118200	Charcot-Marie-Tooth disease, demyelinating, type 1B	.		134
HP:0012447	HP:0011096	Peripheral demyelination	2	MPZ CL E G H	4359	7225	OMIM:118200	Charcot-Marie-Tooth disease, demyelinating, type 1B	HP:0040282 - Frequent		134
HP:0012447	HP:0030173	Peripheral hypermyelination	2	MPZ CL E G H	4359	7225	OMIM:118200	Charcot-Marie-Tooth disease, demyelinating, type 1B			134
HP:0012447	HP:0003383	Onion bulb formation	2	MPZ CL E G H	4359	7225	OMIM:118200	Charcot-Marie-Tooth disease, demyelinating, type 1B	.		134
HP:0012447	HP:0011096	Peripheral demyelination	2	MPZ CL E G H	4359	7225	OMIM:607791	Charcot-Marie-Tooth disease, dominant intermediate D			134
HP:0012447	HP:0011096	Peripheral demyelination	2	MPZ CL E G H	4359	7225	OMIM:607736	Charcot-Marie-Tooth disease, type 2J	.	HP:0003581 - Adult onset	134
HP:0012447	HP:0003380	Decreased number of peripheral myelinated nerve fibers	2	MPZ CL E G H	4359	7225	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.		134
HP:0012447	HP:0030173	Peripheral hypermyelination	2	MPZ CL E G H	4359	7225	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			134
HP:0012447	HP:0011096	Peripheral demyelination	2	MPZ CL E G H	4359	7225	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			134
HP:0012447	HP:0003383	Onion bulb formation	2	MPZ CL E G H	4359	7225	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.		134
HP:0012447	HP:0003380	Decreased number of peripheral myelinated nerve fibers	2	MPZ CL E G H	4359	7225	OMIM:618184	Neuropathy, congenital hypomyelinating, 2			134
HP:0012447	HP:0003383	Onion bulb formation	2	MPZ CL E G H	4359	7225	OMIM:618184	Neuropathy, congenital hypomyelinating, 2			134
HP:0012447	HP:0007131	Acute demyelinating polyneuropathy	2	MPZ CL E G H	4359	7225	ORPHA:3115	Roussy-Lévy syndrome	HP:0040282 - Frequent		134
HP:0012447	HP:0003383	Onion bulb formation	2	MPZ CL E G H	4359	7225	OMIM:180800	Roussy-Levy hereditary areflexic dystasia	.		134
HP:0012447	HP:0011096	Peripheral demyelination	2	MPZ CL E G H	4359	7225	OMIM:180800	Roussy-Levy hereditary areflexic dystasia			134
HP:0012447	HP:0003380	Decreased number of peripheral myelinated nerve fibers	2	MPZ CL E G H	4359	7225	OMIM:180800	Roussy-Levy hereditary areflexic dystasia	.		134
HP:0012447	HP:0002415	Leukodystrophy	2	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		29
HP:0012447	HP:0003429	CNS hypomyelination	2	MTHFS CL E G H	10588	7437	OMIM:618367	Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination	.
HP:0012447	HP:0030173	Peripheral hypermyelination	2	MTMR2 CL E G H	8898	7450	OMIM:601382	Charcot-Marie-Tooth disease, type 4B1			88
HP:0012447	HP:0003383	Onion bulb formation	2	MTRFR CL E G H	91574	26784	ORPHA:320375	Autosomal recessive spastic paraplegia type 55	HP:0040282 - Frequent
HP:0012447	HP:0003380	Decreased number of peripheral myelinated nerve fibers	2	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7	HP:0040283 - Occasional
HP:0012447	HP:0003383	Onion bulb formation	2	MTRFR CL E G H	91574	26784	OMIM:615035	Spastic paraplegia 55, autosomal recessive	.
HP:0012447	HP:0007305	CNS demyelination	2	MTTP CL E G H	4547	7467	OMIM:200100	ABETALIPOPROTEINEMIA	.		81
HP:0012447	HP:0011096	Peripheral demyelination	2	MTTP CL E G H	4547	7467	OMIM:200100	ABETALIPOPROTEINEMIA	.		81
HP:0012447	HP:0002188	Delayed CNS myelination	2	NACC1 CL E G H	112939	20967	OMIM:617393	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination			1
HP:0012447	HP:0002415	Leukodystrophy	2	NADK2 CL E G H	133686	26404	OMIM:616034	2,4-Dienoyl-Coa reductase deficiency	.		14
HP:0012447	HP:0002415	Leukodystrophy	2	NADK2 CL E G H	133686	26404	ORPHA:431361	Progressive encephalopathy with leukodystrophy due to DECR deficiency	HP:0040282 - Frequent		14
HP:0012447	HP:0002188	Delayed CNS myelination	2	NARS1 CL E G H	4677	7643	OMIM:619091	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG
HP:0012447	HP:0003429	CNS hypomyelination	2	NARS2 CL E G H	79731	26274	OMIM:616239	Combined oxidative phosphorylation deficiency 24	.		34
HP:0012447	HP:0002188	Delayed CNS myelination	2	NCDN CL E G H	23154	17597	OMIM:619373	NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS; NEDIES
HP:0012447	HP:0002415	Leukodystrophy	2	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0012447	HP:0011096	Peripheral demyelination	2	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012447	HP:0002415	Leukodystrophy	2	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0012447	HP:0011096	Peripheral demyelination	2	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012447	HP:0002415	Leukodystrophy	2	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0012447	HP:0011096	Peripheral demyelination	2	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012447	HP:0011096	Peripheral demyelination	2	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012447	HP:0011096	Peripheral demyelination	2	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012447	HP:0011096	Peripheral demyelination	2	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012447	HP:0003383	Onion bulb formation	2	NDRG1 CL E G H	10397	7679	OMIM:601455	Charcot-Marie-Tooth disease, type 4D	.		82
HP:0012447	HP:0011096	Peripheral demyelination	2	NDRG1 CL E G H	10397	7679	OMIM:601455	Charcot-Marie-Tooth disease, type 4D			82
HP:0012447	HP:0002415	Leukodystrophy	2	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		7
HP:0012447	HP:0002415	Leukodystrophy	2	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		91
HP:0012447	HP:0002415	Leukodystrophy	2	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		32
HP:0012447	HP:0002415	Leukodystrophy	2	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		7
HP:0012447	HP:0002415	Leukodystrophy	2	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		3
HP:0012447	HP:0002415	Leukodystrophy	2	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		19
HP:0012447	HP:0002415	Leukodystrophy	2	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		4
HP:0012447	HP:0002415	Leukodystrophy	2	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		1
HP:0012447	HP:0002415	Leukodystrophy	2	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		27
HP:0012447	HP:0002415	Leukodystrophy	2	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		40
HP:0012447	HP:0002415	Leukodystrophy	2	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		26
HP:0012447	HP:0002415	Leukodystrophy	2	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		26
HP:0012447	HP:0002415	Leukodystrophy	2	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		31
HP:0012447	HP:0002415	Leukodystrophy	2	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional		31
HP:0012447	HP:0002415	Leukodystrophy	2	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		50
HP:0012447	HP:0007305	CNS demyelination	2	NDUFAF4 CL E G H	29078	21034	OMIM:618237	Mitochondrial complex I deficiency, nuclear type 15			50
HP:0012447	HP:0002415	Leukodystrophy	2	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		34
HP:0012447	HP:0002415	Leukodystrophy	2	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		34
HP:0012447	HP:0002415	Leukodystrophy	2	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		39
HP:0012447	HP:0002415	Leukodystrophy	2	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0012447	HP:0002415	Leukodystrophy	2	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0012447	HP:0002415	Leukodystrophy	2	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		3
HP:0012447	HP:0002415	Leukodystrophy	2	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		9
HP:0012447	HP:0002415	Leukodystrophy	2	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional
HP:0012447	HP:0002415	Leukodystrophy	2	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		16
HP:0012447	HP:0002415	Leukodystrophy	2	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		81
HP:0012447	HP:0002415	Leukodystrophy	2	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		81
HP:0012447	HP:0002415	Leukodystrophy	2	NDUFS1 CL E G H	4719	7707	OMIM:618226	Mitochondrial complex I deficiency, nuclear type 5	.		81
HP:0012447	HP:0002415	Leukodystrophy	2	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		65
HP:0012447	HP:0002415	Leukodystrophy	2	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional		65
HP:0012447	HP:0002415	Leukodystrophy	2	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		65
HP:0012447	HP:0002415	Leukodystrophy	2	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		22
HP:0012447	HP:0002415	Leukodystrophy	2	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		22
HP:0012447	HP:0002415	Leukodystrophy	2	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		27
HP:0012447	HP:0002415	Leukodystrophy	2	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		27
HP:0012447	HP:0002415	Leukodystrophy	2	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1	.		27
HP:0012447	HP:0002415	Leukodystrophy	2	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		21
HP:0012447	HP:0002415	Leukodystrophy	2	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		38
HP:0012447	HP:0002415	Leukodystrophy	2	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		38
HP:0012447	HP:0002415	Leukodystrophy	2	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		42
HP:0012447	HP:0002415	Leukodystrophy	2	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		42
HP:0012447	HP:0002415	Leukodystrophy	2	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		74
HP:0012447	HP:0002415	Leukodystrophy	2	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		74
HP:0012447	HP:0002415	Leukodystrophy	2	NDUFV1 CL E G H	4723	7716	OMIM:618225	Mitochondrial complex I deficiency, nuclear type 4			74
HP:0012447	HP:0002415	Leukodystrophy	2	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		27
HP:0012447	HP:0002415	Leukodystrophy	2	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		27
HP:0012447	HP:0011402	Demyelinating sensory neuropathy	2	NEFL CL E G H	4747	7739	ORPHA:99939	Autosomal dominant Charcot-Marie-Tooth disease type 2E	HP:0040281 - Very frequent		118
HP:0012447	HP:0007220	Demyelinating motor neuropathy	2	NEFL CL E G H	4747	7739	ORPHA:99939	Autosomal dominant Charcot-Marie-Tooth disease type 2E	HP:0040281 - Very frequent		118
HP:0012447	HP:0011402	Demyelinating sensory neuropathy	2	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F	HP:0040281 - Very frequent		118
HP:0012447	HP:0007220	Demyelinating motor neuropathy	2	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F	HP:0040281 - Very frequent		118
HP:0012447	HP:0003380	Decreased number of peripheral myelinated nerve fibers	2	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F			118
HP:0012447	HP:0003383	Onion bulb formation	2	NEFL CL E G H	4747	7739	OMIM:607684	Charcot-Marie-Tooth disease, axonal, type 2E			118
HP:0012447	HP:0003380	Decreased number of peripheral myelinated nerve fibers	2	NEFL CL E G H	4747	7739	OMIM:607734	Charcot-Marie-Tooth disease, demyelinating, type 1F	.		118
HP:0012447	HP:0030173	Peripheral hypermyelination	2	NEFL CL E G H	4747	7739	OMIM:607734	Charcot-Marie-Tooth disease, demyelinating, type 1F			118
HP:0012447	HP:0003383	Onion bulb formation	2	NEFL CL E G H	4747	7739	OMIM:607734	Charcot-Marie-Tooth disease, demyelinating, type 1F	.		118
HP:0012447	HP:0011096	Peripheral demyelination	2	NEFL CL E G H	4747	7739	OMIM:607734	Charcot-Marie-Tooth disease, demyelinating, type 1F			118
HP:0012447	HP:0002188	Delayed CNS myelination	2	NEUROD2 CL E G H	4761	7763	OMIM:618374	Epileptic encephalopathy, early infantile, 72
HP:0012447	HP:0003380	Decreased number of peripheral myelinated nerve fibers	2	NGF CL E G H	4803	7808	ORPHA:64752	Hereditary sensory and autonomic neuropathy type 5			20
HP:0012447	HP:0002188	Delayed CNS myelination	2	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation			32
HP:0012447	HP:0002415	Leukodystrophy	2	NKX6-2 CL E G H	84504	19321	ORPHA:527497	NKX6-2-related autosomal recessive hypomyelinating leukodystrophy	HP:0040282 - Frequent		2
HP:0012447	HP:0003429	CNS hypomyelination	2	NKX6-2 CL E G H	84504	19321	ORPHA:527497	NKX6-2-related autosomal recessive hypomyelinating leukodystrophy	HP:0040282 - Frequent		2
HP:0012447	HP:0003429	CNS hypomyelination	2	NKX6-2 CL E G H	84504	19321	OMIM:617560	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy			2
HP:0012447	HP:0002415	Leukodystrophy	2	NKX6-2 CL E G H	84504	19321	OMIM:617560	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy	.		2
HP:0012447	HP:0003429	CNS hypomyelination	2	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA			15
HP:0012447	HP:0002188	Delayed CNS myelination	2	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA			15
HP:0012447	HP:0002188	Delayed CNS myelination	2	NRCAM CL E G H	4897	7994	OMIM:619833				2
HP:0012447	HP:0002188	Delayed CNS myelination	2	NRROS CL E G H	375387	24613	OMIM:618875	SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS; SENEBAC			1
HP:0012447	HP:0003380	Decreased number of peripheral myelinated nerve fibers	2	NTRK1 CL E G H	4914	8031	ORPHA:64752	Hereditary sensory and autonomic neuropathy type 5			97
HP:0012447	HP:0003380	Decreased number of peripheral myelinated nerve fibers	2	NTRK1 CL E G H	4914	8031	OMIM:256800	Insensitivity to pain, congenital, with anhidrosis			97
HP:0012447	HP:0002415	Leukodystrophy	2	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		89
HP:0012447	HP:0002415	Leukodystrophy	2	NUBPL CL E G H	80224	20278	OMIM:618242	Mitochondrial complex I deficiency, nuclear type 21	.		89
HP:0012447	HP:0002188	Delayed CNS myelination	2	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF			4
HP:0012447	HP:0003429	CNS hypomyelination	2	PARS2 CL E G H	25973	30563	OMIM:618437	Epileptic encephalopathy, early infantile, 75			14
HP:0012447	HP:0002415	Leukodystrophy	2	PC CL E G H	5091	8636	OMIM:266150	Pyruvate carboxylase deficiency	.		118
HP:0012447	HP:0007305	CNS demyelination	2	PDCD1 CL E G H	5133	8760	OMIM:126200	Multiple sclerosis, susceptibility to	.		1
HP:0012447	HP:0002415	Leukodystrophy	2	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		88
HP:0012447	HP:0007305	CNS demyelination	2	PDYN CL E G H	5173	8820	OMIM:610245	Spinocerebellar ataxia 23	.		52
HP:0012447	HP:0002415	Leukodystrophy	2	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		6
HP:0012447	HP:0002415	Leukodystrophy	2	PEX1 CL E G H	5189	8850	OMIM:601539	Peroxisome biogenesis disorder 1B	.		169
HP:0012447	HP:0002415	Leukodystrophy	2	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B			75
HP:0012447	HP:0003429	CNS hypomyelination	2	PEX13 CL E G H	5194	8855	OMIM:614883	Peroxisome biogenesis disorder 11A (Zellweger)			66
HP:0012447	HP:0011096	Peripheral demyelination	2	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B			59
HP:0012447	HP:0002415	Leukodystrophy	2	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B	.		59
HP:0012447	HP:0007305	CNS demyelination	2	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)	.		62
HP:0012447	HP:0002188	Delayed CNS myelination	2	PEX7 CL E G H	5191	8860	OMIM:215100	Rhizomelic chondrodysplasia punctata, type 1	.		72
HP:0012447	HP:0002188	Delayed CNS myelination	2	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0012447	HP:0003429	CNS hypomyelination	2	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			8
HP:0012447	HP:0003429	CNS hypomyelination	2	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			20
HP:0012447	HP:0002188	Delayed CNS myelination	2	PHACTR1 CL E G H	221692	20990	OMIM:618298	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE70			1
HP:0012447	HP:0003429	CNS hypomyelination	2	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form			37
HP:0012447	HP:0007266	Cerebral dysmyelination	2	PHGDH CL E G H	26227	8923	OMIM:601815	Phosphoglycerate dehydrogenase deficiency	.		37
HP:0012447	HP:0002415	Leukodystrophy	2	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2			11
HP:0012447	HP:0003429	CNS hypomyelination	2	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2			11
HP:0012447	HP:0007305	CNS demyelination	2	PIGG CL E G H	54872	25985	ORPHA:488635	Early-onset epilepsy-intellectual disability-brain anomalies syndrome			7
HP:0012447	HP:0003429	CNS hypomyelination	2	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			36
HP:0012447	HP:0003429	CNS hypomyelination	2	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			84
HP:0012447	HP:0002188	Delayed CNS myelination	2	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0012447	HP:0002188	Delayed CNS myelination	2	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0012447	HP:0003429	CNS hypomyelination	2	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			57
HP:0012447	HP:0003429	CNS hypomyelination	2	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			6
HP:0012447	HP:0003429	CNS hypomyelination	2	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			2
HP:0012447	HP:0002188	Delayed CNS myelination	2	PKDCC CL E G H	91461	25123	OMIM:618821	RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0012447	HP:0002415	Leukodystrophy	2	PLEKHG2 CL E G H	64857	29515	OMIM:616763	Leukodystrophy and acquired microcephaly with or without dystonia	.		3
HP:0012447	HP:0003380	Decreased number of peripheral myelinated nerve fibers	2	PLEKHG5 CL E G H	57449	29105	OMIM:615376	Charcot-Marie-Tooth disease, recessive intermediate C			186
HP:0012447	HP:0003429	CNS hypomyelination	2	PLP1 CL E G H	5354	9086	ORPHA:280234	Null syndrome	HP:0040281 - Very frequent		60
HP:0012447	HP:0011096	Peripheral demyelination	2	PLP1 CL E G H	5354	9086	ORPHA:280234	Null syndrome	HP:0040281 - Very frequent		60
HP:0012447	HP:0002415	Leukodystrophy	2	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease			60
HP:0012447	HP:0007266	Cerebral dysmyelination	2	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease	.		60
HP:0012447	HP:0003429	CNS hypomyelination	2	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease			60
HP:0012447	HP:0003429	CNS hypomyelination	2	PLP1 CL E G H	5354	9086	ORPHA:280229	Pelizaeus-Merzbacher disease in female carriers	HP:0040283 - Occasional		60
HP:0012447	HP:0003429	CNS hypomyelination	2	PLP1 CL E G H	5354	9086	ORPHA:280219	Pelizaeus-Merzbacher disease, classic form			60
HP:0012447	HP:0003429	CNS hypomyelination	2	PLP1 CL E G H	5354	9086	ORPHA:280210	Pelizaeus-Merzbacher disease, connatal form			60
HP:0012447	HP:0003429	CNS hypomyelination	2	PLP1 CL E G H	5354	9086	ORPHA:280224	Pelizaeus-Merzbacher disease, transitional form	HP:0040281 - Very frequent		60
HP:0012447	HP:0002188	Delayed CNS myelination	2	PLPBP CL E G H	11212	9457	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040283 - Occasional		6
HP:0012447	HP:0011096	Peripheral demyelination	2	PMP2 CL E G H	5375	9117	OMIM:618279	Charcot-Marie-Tooth disease, demyelinating, type 1G			1
HP:0012447	HP:0003383	Onion bulb formation	2	PMP2 CL E G H	5375	9117	OMIM:618279	Charcot-Marie-Tooth disease, demyelinating, type 1G	.		1
HP:0012447	HP:0007131	Acute demyelinating polyneuropathy	2	PMP22 CL E G H	5376	9118	ORPHA:98916	Acute inflammatory demyelinating polyradiculoneuropathy	HP:0040280 - Obligate		79
HP:0012447	HP:0003383	Onion bulb formation	2	PMP22 CL E G H	5376	9118	ORPHA:98916	Acute inflammatory demyelinating polyradiculoneuropathy	HP:0040283 - Occasional		79
HP:0012447	HP:0007131	Acute demyelinating polyneuropathy	2	PMP22 CL E G H	5376	9118	ORPHA:101081	Charcot-Marie-Tooth disease type 1A	HP:0040283 - Occasional		79
HP:0012447	HP:0003380	Decreased number of peripheral myelinated nerve fibers	2	PMP22 CL E G H	5376	9118	OMIM:118220	Charcot-Marie-Tooth disease, demyelinating, type 1A	.		79
HP:0012447	HP:0011096	Peripheral demyelination	2	PMP22 CL E G H	5376	9118	OMIM:118220	Charcot-Marie-Tooth disease, demyelinating, type 1A			79
HP:0012447	HP:0003383	Onion bulb formation	2	PMP22 CL E G H	5376	9118	OMIM:118220	Charcot-Marie-Tooth disease, demyelinating, type 1A	.		79
HP:0012447	HP:0030173	Peripheral hypermyelination	2	PMP22 CL E G H	5376	9118	OMIM:118220	Charcot-Marie-Tooth disease, demyelinating, type 1A			79
HP:0012447	HP:0007131	Acute demyelinating polyneuropathy	2	PMP22 CL E G H	5376	9118	OMIM:139393	GUILLAIN-BARRE SYNDROME, FAMILIAL; GBS			79
HP:0012447	HP:0003383	Onion bulb formation	2	PMP22 CL E G H	5376	9118	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.		79
HP:0012447	HP:0003380	Decreased number of peripheral myelinated nerve fibers	2	PMP22 CL E G H	5376	9118	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.		79
HP:0012447	HP:0011096	Peripheral demyelination	2	PMP22 CL E G H	5376	9118	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			79
HP:0012447	HP:0030173	Peripheral hypermyelination	2	PMP22 CL E G H	5376	9118	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			79
HP:0012447	HP:0011096	Peripheral demyelination	2	PMP22 CL E G H	5376	9118	OMIM:162500	Neuropathy, hereditary, with liability to pressure palsies			79
HP:0012447	HP:0007131	Acute demyelinating polyneuropathy	2	PMP22 CL E G H	5376	9118	ORPHA:3115	Roussy-Lévy syndrome	HP:0040282 - Frequent		79
HP:0012447	HP:0003380	Decreased number of peripheral myelinated nerve fibers	2	PMP22 CL E G H	5376	9118	OMIM:180800	Roussy-Levy hereditary areflexic dystasia	.		79
HP:0012447	HP:0011096	Peripheral demyelination	2	PMP22 CL E G H	5376	9118	OMIM:180800	Roussy-Levy hereditary areflexic dystasia			79
HP:0012447	HP:0003383	Onion bulb formation	2	PMP22 CL E G H	5376	9118	OMIM:180800	Roussy-Levy hereditary areflexic dystasia	.		79
HP:0012447	HP:0002415	Leukodystrophy	2	PNPT1 CL E G H	87178	23166	OMIM:614932	Combined oxidative phosphorylation deficiency 13	.		60
HP:0012447	HP:0003380	Decreased number of peripheral myelinated nerve fibers	2	PNPT1 CL E G H	87178	23166	OMIM:608703	Spinocerebellar ataxia 25	.		60
HP:0012447	HP:0003380	Decreased number of peripheral myelinated nerve fibers	2	PNPT1 CL E G H	87178	23166	ORPHA:101111	Spinocerebellar ataxia type 25			60
HP:0012447	HP:0002188	Delayed CNS myelination	2	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0012447	HP:0002188	Delayed CNS myelination	2	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040284 - Very rare		35
HP:0012447	HP:0003380	Decreased number of peripheral myelinated nerve fibers	2	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			464
HP:0012447	HP:0003429	CNS hypomyelination	2	POLR1C CL E G H	9533	20194	ORPHA:88637	Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome	HP:0040281 - Very frequent		38
HP:0012447	HP:0002415	Leukodystrophy	2	POLR1C CL E G H	9533	20194	OMIM:616494	Leukodystrophy, hypomyelinating, 11	.		38
HP:0012447	HP:0003429	CNS hypomyelination	2	POLR1C CL E G H	9533	20194	OMIM:616494	Leukodystrophy, hypomyelinating, 11			38
HP:0012447	HP:0002188	Delayed CNS myelination	2	POLR2A CL E G H	5430	9187	OMIM:618603	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0012447	HP:0003429	CNS hypomyelination	2	POLR3A CL E G H	11128	30074	ORPHA:88637	Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome	HP:0040281 - Very frequent		138
HP:0012447	HP:0002415	Leukodystrophy	2	POLR3A CL E G H	11128	30074	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism	.		138
HP:0012447	HP:0003429	CNS hypomyelination	2	POLR3A CL E G H	11128	30074	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism	.		138
HP:0012447	HP:0003429	CNS hypomyelination	2	POLR3A CL E G H	11128	30074	ORPHA:447896	Tremor-ataxia-central hypomyelination syndrome	HP:0040282 - Frequent		138
HP:0012447	HP:0002415	Leukodystrophy	2	POLR3A CL E G H	11128	30074	ORPHA:447896	Tremor-ataxia-central hypomyelination syndrome	HP:0040282 - Frequent		138
HP:0012447	HP:0002415	Leukodystrophy	2	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040282 - Frequent		138
HP:0012447	HP:0002415	Leukodystrophy	2	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome			138
HP:0012447	HP:0003429	CNS hypomyelination	2	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040282 - Frequent		138
HP:0012447	HP:0002188	Delayed CNS myelination	2	POLR3B CL E G H	55703	30348	OMIM:619742	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I			67
HP:0012447	HP:0003429	CNS hypomyelination	2	POLR3B CL E G H	55703	30348	ORPHA:88637	Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome	HP:0040281 - Very frequent		67
HP:0012447	HP:0003429	CNS hypomyelination	2	POLR3B CL E G H	55703	30348	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism	.		67
HP:0012447	HP:0002415	Leukodystrophy	2	POLR3B CL E G H	55703	30348	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism	.		67
HP:0012447	HP:0003429	CNS hypomyelination	2	POLR3B CL E G H	55703	30348	OMIM:614381	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism			67
HP:0012447	HP:0002415	Leukodystrophy	2	POLR3B CL E G H	55703	30348	OMIM:614381	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism	.		67
HP:0012447	HP:0002188	Delayed CNS myelination	2	POU3F3 CL E G H	5455	9216	OMIM:618604	SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS
HP:0012447	HP:0007305	CNS demyelination	2	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0012447	HP:0002188	Delayed CNS myelination	2	PPIL1 CL E G H	51645	9260	OMIM:619301	PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0012447	HP:0007305	CNS demyelination	2	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			2
HP:0012447	HP:0002188	Delayed CNS myelination	2	PPP2R1A CL E G H	5518	9302	OMIM:616362	Mental retardation, autosomal dominant 36			13
HP:0012447	HP:0002188	Delayed CNS myelination	2	PPP3CA CL E G H	5530	9314	OMIM:617711	Epileptic encephalopathy, infantile or early childhood, 1			2
HP:0012447	HP:0007305	CNS demyelination	2	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2			58
HP:0012447	HP:0003429	CNS hypomyelination	2	PRKDC CL E G H	5591	9413	OMIM:615966	Immunodeficiency 26 with or without neurologic abnormalities	HP:0040283 - Occasional		42
HP:0012447	HP:0007305	CNS demyelination	2	PRPS1 CL E G H	5631	9462	OMIM:301835	Arts syndrome			49
HP:0012447	HP:0003383	Onion bulb formation	2	PRPS1 CL E G H	5631	9462	OMIM:311070	Charcot-Marie-Tooth disease, X-linked recessive, 5			49
HP:0012447	HP:0011096	Peripheral demyelination	2	PRPS1 CL E G H	5631	9462	OMIM:311070	Charcot-Marie-Tooth disease, X-linked recessive, 5			49
HP:0012447	HP:0007305	CNS demyelination	2	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy			49
HP:0012447	HP:0002188	Delayed CNS myelination	2	PRUNE1 CL E G H	58497	13420	OMIM:617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies			8
HP:0012447	HP:0003380	Decreased number of peripheral myelinated nerve fibers	2	PRX CL E G H	57716	13797	OMIM:614895	Charcot-Marie-Tooth disease, demyelinating, type 4F			170
HP:0012447	HP:0011096	Peripheral demyelination	2	PRX CL E G H	57716	13797	OMIM:614895	Charcot-Marie-Tooth disease, demyelinating, type 4F	.		170
HP:0012447	HP:0003383	Onion bulb formation	2	PRX CL E G H	57716	13797	OMIM:614895	Charcot-Marie-Tooth disease, demyelinating, type 4F			170
HP:0012447	HP:0003383	Onion bulb formation	2	PRX CL E G H	57716	13797	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.		170
HP:0012447	HP:0003380	Decreased number of peripheral myelinated nerve fibers	2	PRX CL E G H	57716	13797	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.		170
HP:0012447	HP:0011096	Peripheral demyelination	2	PRX CL E G H	57716	13797	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			170
HP:0012447	HP:0030173	Peripheral hypermyelination	2	PRX CL E G H	57716	13797	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			170
HP:0012447	HP:0007305	CNS demyelination	2	PSAP CL E G H	5660	9498	OMIM:611721	Combined saposin deficiency	.		81
HP:0012447	HP:0007266	Cerebral dysmyelination	2	PSAP CL E G H	5660	9498	OMIM:611722	KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY			81
HP:0012447	HP:0011096	Peripheral demyelination	2	PSAP CL E G H	5660	9498	OMIM:249900	Metachromatic leukodystrophy due to saposin B deficiency	.		81
HP:0012447	HP:0007305	CNS demyelination	2	PSAP CL E G H	5660	9498	OMIM:249900	Metachromatic leukodystrophy due to saposin B deficiency	.		81
HP:0012447	HP:0002415	Leukodystrophy	2	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040282 - Frequent		81
HP:0012447	HP:0002415	Leukodystrophy	2	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040282 - Frequent		81
HP:0012447	HP:0002415	Leukodystrophy	2	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form	HP:0040282 - Frequent		81
HP:0012447	HP:0007266	Cerebral dysmyelination	2	PTEN CL E G H	5728	9588	ORPHA:101070	Bilateral frontoparietal polymicrogyria	HP:0040281 - Very frequent		948
HP:0012447	HP:0002188	Delayed CNS myelination	2	PURA CL E G H	5813	9701	OMIM:616158	Mental retardation, autosomal dominant 31			53
HP:0012447	HP:0003429	CNS hypomyelination	2	PURA CL E G H	5813	9701	OMIM:616158	Mental retardation, autosomal dominant 31	.		53
HP:0012447	HP:0002415	Leukodystrophy	2	PYCR2 CL E G H	29920	30262	OMIM:616420	Leukodystrophy, hypomyelinating, 10	.		11
HP:0012447	HP:0003429	CNS hypomyelination	2	PYCR2 CL E G H	29920	30262	OMIM:616420	Leukodystrophy, hypomyelinating, 10	.		11
HP:0012447	HP:0007305	CNS demyelination	2	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy			11
HP:0012447	HP:0003429	CNS hypomyelination	2	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy	HP:0040282 - Frequent		11
HP:0012447	HP:0003429	CNS hypomyelination	2	QARS1 CL E G H	5859	9751	OMIM:615760	Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy	.
HP:0012447	HP:0002188	Delayed CNS myelination	2	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1			90
HP:0012447	HP:0003380	Decreased number of peripheral myelinated nerve fibers	2	RAB7A CL E G H	7879	9788	OMIM:600882	Charcot-Marie-Tooth disease, axonal, type 2B	.		50
HP:0012447	HP:0003380	Decreased number of peripheral myelinated nerve fibers	2	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome	HP:0040283 - Occasional		150
HP:0012447	HP:0002415	Leukodystrophy	2	RARS1 CL E G H	5917	9870	OMIM:616140	Leukodystrophy, hypomyelinating, 9	.
HP:0012447	HP:0003429	CNS hypomyelination	2	RARS1 CL E G H	5917	9870	ORPHA:438114	RARS-related autosomal recessive hypomyelinating leukodystrophy
HP:0012447	HP:0002188	Delayed CNS myelination	2	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome			10
HP:0012447	HP:0002188	Delayed CNS myelination	2	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0012447	HP:0007305	CNS demyelination	2	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome	HP:0040283 - Occasional		16
HP:0012447	HP:0003380	Decreased number of peripheral myelinated nerve fibers	2	RETREG1 CL E G H	54463	25964	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.		54
HP:0012447	HP:0003429	CNS hypomyelination	2	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11	.		26
HP:0012447	HP:0002415	Leukodystrophy	2	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent		33
HP:0012447	HP:0002415	Leukodystrophy	2	RNASEH2A CL E G H	10535	18518	OMIM:610333	Aicardi-Goutieres syndrome 4	.		33
HP:0012447	HP:0002415	Leukodystrophy	2	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent		34
HP:0012447	HP:0002415	Leukodystrophy	2	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent		60
HP:0012447	HP:0007266	Cerebral dysmyelination	2	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0012447	HP:0002188	Delayed CNS myelination	2	RNF13 CL E G H	11342	10057	OMIM:618379	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73
HP:0012447	HP:0003429	CNS hypomyelination	2	RNF220 CL E G H	55182	25552	OMIM:619688	LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY; HLD23			1
HP:0012447	HP:0002415	Leukodystrophy	2	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent
HP:0012447	HP:0002188	Delayed CNS myelination	2	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0012447	HP:0003380	Decreased number of peripheral myelinated nerve fibers	2	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			125
HP:0012447	HP:0003383	Onion bulb formation	2	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type			309
HP:0012447	HP:0003380	Decreased number of peripheral myelinated nerve fibers	2	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type			309
HP:0012447	HP:0002415	Leukodystrophy	2	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent		55
HP:0012447	HP:0002415	Leukodystrophy	2	SAMHD1 CL E G H	25939	15925	OMIM:612952	Aicardi-Goutieres syndrome 5	.		55
HP:0012447	HP:0030173	Peripheral hypermyelination	2	SBF1 CL E G H	6305	10542	OMIM:615284	Charcot-Marie-Tooth disease, type 4B3			16
HP:0012447	HP:0003383	Onion bulb formation	2	SBF1 CL E G H	6305	10542	OMIM:615284	Charcot-Marie-Tooth disease, type 4B3	.		16
HP:0012447	HP:0030173	Peripheral hypermyelination	2	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2			180
HP:0012447	HP:0003380	Decreased number of peripheral myelinated nerve fibers	2	SBF2 CL E G H	81846	2135	OMIM:604563	Charcot-Marie-Tooth disease, type 4B2	.		180
HP:0012447	HP:0011096	Peripheral demyelination	2	SBF2 CL E G H	81846	2135	OMIM:604563	Charcot-Marie-Tooth disease, type 4B2			180
HP:0012447	HP:0003383	Onion bulb formation	2	SBF2 CL E G H	81846	2135	OMIM:604563	Charcot-Marie-Tooth disease, type 4B2	.		180
HP:0012447	HP:0003380	Decreased number of peripheral myelinated nerve fibers	2	SCN9A CL E G H	6335	10597	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.		318
HP:0012447	HP:0002415	Leukodystrophy	2	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional		40
HP:0012447	HP:0002415	Leukodystrophy	2	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		304
HP:0012447	HP:0002415	Leukodystrophy	2	SDHB CL E G H	6390	10681	OMIM:619224	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4			237
HP:0012447	HP:0007220	Demyelinating motor neuropathy	2	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction	HP:0040282 - Frequent
HP:0012447	HP:0002188	Delayed CNS myelination	2	SETD1A CL E G H	9739	29010	OMIM:618832	EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY; EPEDD			6
HP:0012447	HP:0003380	Decreased number of peripheral myelinated nerve fibers	2	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C			493
HP:0012447	HP:0003383	Onion bulb formation	2	SH3TC2 CL E G H	79628	29427	OMIM:601596	Charcot-Marie-Tooth disease, type 4C			493
HP:0012447	HP:0003380	Decreased number of peripheral myelinated nerve fibers	2	SH3TC2 CL E G H	79628	29427	OMIM:601596	Charcot-Marie-Tooth disease, type 4C			493
HP:0012447	HP:0011096	Peripheral demyelination	2	SH3TC2 CL E G H	79628	29427	OMIM:601596	Charcot-Marie-Tooth disease, type 4C			493
HP:0012447	HP:0002188	Delayed CNS myelination	2	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0012447	HP:0003429	CNS hypomyelination	2	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040282 - Frequent		6
HP:0012447	HP:0002188	Delayed CNS myelination	2	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0012447	HP:0002188	Delayed CNS myelination	2	SLC12A5 CL E G H	57468	13818	OMIM:616645	Epileptic encephalopathy, early infantile, 34			8
HP:0012447	HP:0003383	Onion bulb formation	2	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy	.		163
HP:0012447	HP:0002188	Delayed CNS myelination	2	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome	.		57
HP:0012447	HP:0002415	Leukodystrophy	2	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome	.		57
HP:0012447	HP:0002415	Leukodystrophy	2	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		110
HP:0012447	HP:0002188	Delayed CNS myelination	2	SLC1A2 CL E G H	6506	10940	OMIM:617105	Epileptic encephalopathy, early infantile, 41			3
HP:0012447	HP:0002188	Delayed CNS myelination	2	SLC1A4 CL E G H	6509	10942	OMIM:616657	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly			4
HP:0012447	HP:0003429	CNS hypomyelination	2	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome			4
HP:0012447	HP:0003429	CNS hypomyelination	2	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39			44
HP:0012447	HP:0003429	CNS hypomyelination	2	SLC33A1 CL E G H	9197	95	OMIM:614482	Congenital cataracts, hearing loss, and neurodegeneration	.		48
HP:0012447	HP:0002188	Delayed CNS myelination	2	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm			27
HP:0012447	HP:0002188	Delayed CNS myelination	2	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome			2
HP:0012447	HP:0002188	Delayed CNS myelination	2	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A			164
HP:0012447	HP:0003429	CNS hypomyelination	2	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA			1
HP:0012447	HP:0003429	CNS hypomyelination	2	SNIP1 CL E G H	79753	30587	OMIM:614501	Psychomotor retardation, epilepsy, and craniofacial dysmorphism	.		3
HP:0012447	HP:0002415	Leukodystrophy	2	SNORD118 CL E G H	727676	32952	OMIM:614561	Leukoencephalopathy, brain calcifications, and cysts	.		6
HP:0012447	HP:0030173	Peripheral hypermyelination	2	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease			61
HP:0012447	HP:0007266	Cerebral dysmyelination	2	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease	.		61
HP:0012447	HP:0007182	Peripheral hypomyelination	2	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease	.		61
HP:0012447	HP:0002415	Leukodystrophy	2	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease			61
HP:0012447	HP:0011096	Peripheral demyelination	2	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease	.		61
HP:0012447	HP:0003429	CNS hypomyelination	2	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E			61
HP:0012447	HP:0002415	Leukodystrophy	2	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome	HP:0040283 - Occasional		49
HP:0012447	HP:0002188	Delayed CNS myelination	2	SPATA5 CL E G H	166378	18119	OMIM:616577	Epilepsy, hearing loss, and mental retardation syndrome			19
HP:0012447	HP:0003429	CNS hypomyelination	2	SPATA5 CL E G H	166378	18119	OMIM:616577	Epilepsy, hearing loss, and mental retardation syndrome	HP:0040283 - Occasional		19
HP:0012447	HP:0003429	CNS hypomyelination	2	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome			19
HP:0012447	HP:0003429	CNS hypomyelination	2	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040282 - Frequent		287
HP:0012447	HP:0003380	Decreased number of peripheral myelinated nerve fibers	2	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive	.		287
HP:0012447	HP:0003429	CNS hypomyelination	2	SPTAN1 CL E G H	6709	11273	OMIM:613477	Epileptic encephalopathy, early infantile, 5	.		416
HP:0012447	HP:0011096	Peripheral demyelination	2	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0012447	HP:0002415	Leukodystrophy	2	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0012447	HP:0003429	CNS hypomyelination	2	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040282 - Frequent		54
HP:0012447	HP:0003380	Decreased number of peripheral myelinated nerve fibers	2	SPTLC1 CL E G H	10558	11277	OMIM:162400	Neuropathy, hereditary sensory and autonomic, type IA			54
HP:0012447	HP:0002188	Delayed CNS myelination	2	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040283 - Occasional		237
HP:0012447	HP:0003429	CNS hypomyelination	2	STXBP1 CL E G H	6812	11444	OMIM:612164	Epileptic encephalopathy, early infantile, 4			237
HP:0012447	HP:0002188	Delayed CNS myelination	2	STXBP1 CL E G H	6812	11444	OMIM:612164	Epileptic encephalopathy, early infantile, 4			237
HP:0012447	HP:0007305	CNS demyelination	2	SUMF1 CL E G H	285362	20376	OMIM:272200	Multiple sulfatase deficiency	.		80
HP:0012447	HP:0011096	Peripheral demyelination	2	SUMF1 CL E G H	285362	20376	OMIM:272200	Multiple sulfatase deficiency	.		80
HP:0012447	HP:0011096	Peripheral demyelination	2	SURF1 CL E G H	6834	11474	OMIM:616684	Charcot-Marie-Tooth disease, type 4K			73
HP:0012447	HP:0002415	Leukodystrophy	2	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional		73
HP:0012447	HP:0002415	Leukodystrophy	2	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		73
HP:0012447	HP:0002415	Leukodystrophy	2	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		23
HP:0012447	HP:0002188	Delayed CNS myelination	2	TAF13 CL E G H	6884	11546	OMIM:617432	Mental retardation, autosomal recessive 60			2
HP:0012447	HP:0002188	Delayed CNS myelination	2	TAF2 CL E G H	6873	11536	OMIM:615599	Mental retardation, autosomal recessive 40			7
HP:0012447	HP:0002415	Leukodystrophy	2	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0012447	HP:0007266	Cerebral dysmyelination	2	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0012447	HP:0002188	Delayed CNS myelination	2	TBC1D24 CL E G H	57465	29203	ORPHA:352596	Progressive myoclonic epilepsy with dystonia	HP:0040282 - Frequent		271
HP:0012447	HP:0003429	CNS hypomyelination	2	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome			16
HP:0012447	HP:0003429	CNS hypomyelination	2	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT			16
HP:0012447	HP:0003380	Decreased number of peripheral myelinated nerve fibers	2	TFG CL E G H	10342	11758	OMIM:604484	Neuropathy, hereditary motor and sensory, Okinawa type	.		18
HP:0012447	HP:0007220	Demyelinating motor neuropathy	2	TFG CL E G H	10342	11758	OMIM:615658	Spastic paraplegia 57, autosomal recessive			18
HP:0012447	HP:0002188	Delayed CNS myelination	2	TGFB1 CL E G H	7040	11766	OMIM:618213	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE			13
HP:0012447	HP:0003429	CNS hypomyelination	2	TIAM1 CL E G H	7074	11805	OMIM:619908				2
HP:0012447	HP:0002188	Delayed CNS myelination	2	TIMM22 CL E G H	29928	17317	OMIM:618851	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43; COXPD43
HP:0012447	HP:0002415	Leukodystrophy	2	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		1
HP:0012447	HP:0002188	Delayed CNS myelination	2	TKFC CL E G H	26007	24552	OMIM:618805	TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0012447	HP:0002415	Leukodystrophy	2	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16	.
HP:0012447	HP:0002188	Delayed CNS myelination	2	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16
HP:0012447	HP:0002415	Leukodystrophy	2	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		4
HP:0012447	HP:0002188	Delayed CNS myelination	2	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0012447	HP:0002188	Delayed CNS myelination	2	TMEM240 CL E G H	339453	25186	OMIM:607454	Spinocerebellar ataxia 21			9
HP:0012447	HP:0002188	Delayed CNS myelination	2	TMEM63A CL E G H	9725	29118	OMIM:618688	LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0012447	HP:0002415	Leukodystrophy	2	TMEM63A CL E G H	9725	29118	OMIM:618688	LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0012447	HP:0003429	CNS hypomyelination	2	TMTC3 CL E G H	160418	26899	OMIM:617255	Lissencephaly 8			5
HP:0012447	HP:0002188	Delayed CNS myelination	2	TNPO2 CL E G H	30000	19998	OMIM:619556	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0012447	HP:0007305	CNS demyelination	2	TNR CL E G H	7143	11953	OMIM:619653	NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO			7
HP:0012447	HP:0002188	Delayed CNS myelination	2	TNR CL E G H	7143	11953	OMIM:619653	NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO			7
HP:0012447	HP:0003429	CNS hypomyelination	2	TRAPPC11 CL E G H	60684	25751	OMIM:615356	Muscular dystrophy, limb-girdle, autosomal recessive 18	HP:0040283 - Occasional		27
HP:0012447	HP:0002188	Delayed CNS myelination	2	TRAPPC2L CL E G H	51693	30887	OMIM:618331	Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis
HP:0012447	HP:0007305	CNS demyelination	2	TREM2 CL E G H	54209	17761	OMIM:618193	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL2			31
HP:0012447	HP:0002415	Leukodystrophy	2	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent		56
HP:0012447	HP:0007305	CNS demyelination	2	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1			56
HP:0012447	HP:0003380	Decreased number of peripheral myelinated nerve fibers	2	TRIM2 CL E G H	23321	15974	OMIM:615490	Charcot-Marie-Tooth disease, axonal, type 2R	.		3
HP:0012447	HP:0002188	Delayed CNS myelination	2	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS			1
HP:0012447	HP:0007305	CNS demyelination	2	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			7
HP:0012447	HP:0002188	Delayed CNS myelination	2	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26			4
HP:0012447	HP:0011096	Peripheral demyelination	2	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012447	HP:0011096	Peripheral demyelination	2	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012447	HP:0002188	Delayed CNS myelination	2	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD			28
HP:0012447	HP:0011096	Peripheral demyelination	2	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012447	HP:0011096	Peripheral demyelination	2	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012447	HP:0002188	Delayed CNS myelination	2	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism			2
HP:0012447	HP:0003429	CNS hypomyelination	2	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0012447	HP:0002415	Leukodystrophy	2	TUBB4A CL E G H	10382	20774	OMIM:612438	Leukodystrophy, hypomyelinating, 6	.		66
HP:0012447	HP:0003429	CNS hypomyelination	2	TUBB4A CL E G H	10382	20774	OMIM:612438	Leukodystrophy, hypomyelinating, 6			66
HP:0012447	HP:0002415	Leukodystrophy	2	TUFM CL E G H	7284	12420	OMIM:610678	Combined oxidative phosphorylation deficiency 4	.		55
HP:0012447	HP:0002188	Delayed CNS myelination	2	TXN2 CL E G H	25828	17772	OMIM:616811	Combined oxidative phosphorylation deficiency 29			1
HP:0012447	HP:0003380	Decreased number of peripheral myelinated nerve fibers	2	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			138
HP:0012447	HP:0011096	Peripheral demyelination	2	TYROBP CL E G H	7305	12449	OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	.		22
HP:0012447	HP:0011096	Peripheral demyelination	2	UBTF CL E G H	7343	12511	OMIM:617672	Neurodegeneration, childhood-onset, with brain atrophy	.		1
HP:0012447	HP:0002188	Delayed CNS myelination	2	UGDH CL E G H	7358	12525	OMIM:618792	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0012447	HP:0002188	Delayed CNS myelination	2	UPB1 CL E G H	51733	16297	OMIM:613161	Beta-Ureidopropionase deficiency	.		44
HP:0012447	HP:0003429	CNS hypomyelination	2	VPS11 CL E G H	55823	14583	OMIM:616683	Leukodystrophy, hypomyelinating, 12			1
HP:0012447	HP:0002188	Delayed CNS myelination	2	VPS11 CL E G H	55823	14583	ORPHA:466934	VPS11-related autosomal recessive hypomyelinating leukodystrophy	HP:0040282 - Frequent		1
HP:0012447	HP:0003380	Decreased number of peripheral myelinated nerve fibers	2	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040283 - Occasional		130
HP:0012447	HP:0002188	Delayed CNS myelination	2	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0012447	HP:0002188	Delayed CNS myelination	2	WARS2 CL E G H	10352	12730	OMIM:617710	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures			2
HP:0012447	HP:0003429	CNS hypomyelination	2	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome			8
HP:0012447	HP:0003380	Decreased number of peripheral myelinated nerve fibers	2	WNK1 CL E G H	65125	14540	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.		199
HP:0012447	HP:0003429	CNS hypomyelination	2	YIF1B CL E G H	90522	30511	OMIM:619125	KAYA-BARAKAT-MASSON SYNDROME; KABAMAS
HP:0012447	HP:0002188	Delayed CNS myelination	2	YRDC CL E G H	79693	28905	OMIM:619609	GALLOWAY-MOWAT SYNDROME 10; GAMOS10
HP:0012447	HP:0002188	Delayed CNS myelination	2	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome			7
HP:0012447	HP:0002188	Delayed CNS myelination	2	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0012447	HP:0002188	Delayed CNS myelination	2	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0012447	HP:0002188	Delayed CNS myelination	2	ZNF148 CL E G H	7707	12933	OMIM:617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies			4
HP:0012447	HP:0002188	Delayed CNS myelination	2	ZNF335 CL E G H	63925	15807	OMIM:615095	Microcephaly 10, primary, autosomal recessive			60
HP:0012447	HP:0002188	Delayed CNS myelination	2	ZNF526 CL E G H	116115	29415	OMIM:619877				24
HP:0012447	HP:0003469	Peripheral dysmyelination	2	ZNHIT3 CL E G H	9326	12309	OMIM:260565	Peho syndrome			1
HP:0012447	HP:0030176	Asymmetric peripheral demyelination	3	CL E G H
HP:0012447	HP:0030174	Increased peripheral myelin thickness	3	CL E G H
HP:0012447	HP:0006926	Metachromatic leukodystrophy variant	3	CL E G H
HP:0012447	HP:0006881	Diffuse peripheral demyelination	3	CL E G H
HP:0012447	HP:0033846	Spinal hypomyelination	3	CL E G H
HP:0012447	HP:0007162	Diffuse demyelination of the cerebral white matter	3	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy	HP:0040281 - Very frequent		135
HP:0012447	HP:0007162	Diffuse demyelination of the cerebral white matter	3	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome	HP:0040283 - Occasional		9
HP:0012447	HP:0006808	Cerebral hypomyelination	3	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency	.		118
HP:0012447	HP:0003269	Sudanophilic leukodystrophy	3	AIMP1 CL E G H	9255	10648	OMIM:260600	Leukodystrophy, hypomyelinating, 3	.		4
HP:0012447	HP:0006808	Cerebral hypomyelination	3	ALG2 CL E G H	85365	23159	ORPHA:79326	ALG2-CDG	HP:0040283 - Occasional		46
HP:0012447	HP:0003387	Decreased number of large peripheral myelinated nerve fibers	3	APTX CL E G H	54840	15984	OMIM:208920	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	.		61
HP:0012447	HP:0003481	Segmental peripheral demyelination/remyelination	3	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0012447	HP:0008311	Spinal cord posterior columns myelin loss	3	ATXN2 CL E G H	6311	10555	ORPHA:98756	Spinocerebellar ataxia type 2	HP:0040282 - Frequent		11
HP:0012447	HP:0006808	Cerebral hypomyelination	3	BCAP31 CL E G H	10134	16695	OMIM:300475	Deafness, dystonia, and cerebral hypomyelination	.		8
HP:0012447	HP:0006808	Cerebral hypomyelination	3	BCAP31 CL E G H	10134	16695	ORPHA:369939	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome	HP:0040282 - Frequent		8
HP:0012447	HP:0033369	Cavitating leukodystrophy	3	COA8 CL E G H	84334	20492	OMIM:619061	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17; MC4DN17
HP:0012447	HP:0006808	Cerebral hypomyelination	3	CYB5A CL E G H	1528	2570	ORPHA:621	Hereditary methemoglobinemia	HP:0040283 - Occasional		2
HP:0012447	HP:0006808	Cerebral hypomyelination	3	CYB5R3 CL E G H	1727	2873	ORPHA:621	Hereditary methemoglobinemia	HP:0040283 - Occasional		24
HP:0012447	HP:0006978	Dysmyelinating leukodystrophy	3	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	HP:0040282 - Frequent		60
HP:0012447	HP:0003481	Segmental peripheral demyelination/remyelination	3	DNM2 CL E G H	1785	2974	OMIM:606482	Charcot-Marie-Tooth disease, dominant intermediate B	.		167
HP:0012447	HP:0007107	Segmental peripheral demyelination	3	DNM2 CL E G H	1785	2974	OMIM:606482	Charcot-Marie-Tooth disease, dominant intermediate B	HP:0040283 - Occasional		167
HP:0012447	HP:0030175	Myelin tomacula	3	EGR2 CL E G H	1959	3239	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			58
HP:0012447	HP:0003481	Segmental peripheral demyelination/remyelination	3	EGR2 CL E G H	1959	3239	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.		58
HP:0012447	HP:0006808	Cerebral hypomyelination	3	EIF2B1 CL E G H	1967	3257	OMIM:603896	Leukoencephalopathy with vanishing white matter	.		42
HP:0012447	HP:0006808	Cerebral hypomyelination	3	EIF2B2 CL E G H	8892	3258	OMIM:603896	Leukoencephalopathy with vanishing white matter	.		24
HP:0012447	HP:0006808	Cerebral hypomyelination	3	EIF2B3 CL E G H	8891	3259	OMIM:603896	Leukoencephalopathy with vanishing white matter	.		32
HP:0012447	HP:0006808	Cerebral hypomyelination	3	EIF2B4 CL E G H	8890	3260	OMIM:603896	Leukoencephalopathy with vanishing white matter	.		38
HP:0012447	HP:0006808	Cerebral hypomyelination	3	EIF2B5 CL E G H	8893	3261	OMIM:603896	Leukoencephalopathy with vanishing white matter	.		48
HP:0012447	HP:0003387	Decreased number of large peripheral myelinated nerve fibers	3	ELP1 CL E G H	8518	5959	OMIM:223900	Neuropathy, hereditary sensory and autonomic, type III	.		133
HP:0012447	HP:0002545	Patchy demyelination of subcortical white matter	3	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2	HP:0040281 - Very frequent		20
HP:0012447	HP:0002545	Patchy demyelination of subcortical white matter	3	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2	HP:0040281 - Very frequent		199
HP:0012447	HP:0002545	Patchy demyelination of subcortical white matter	3	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.		199
HP:0012447	HP:0002545	Patchy demyelination of subcortical white matter	3	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A	.		55
HP:0012447	HP:0002545	Patchy demyelination of subcortical white matter	3	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2	HP:0040281 - Very frequent		55
HP:0012447	HP:0006978	Dysmyelinating leukodystrophy	3	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive	.		76
HP:0012447	HP:0007107	Segmental peripheral demyelination	3	GBF1 CL E G H	8729	4181	OMIM:606483	Charcot-Marie-Tooth disease, dominant intermediate A	.
HP:0012447	HP:0003481	Segmental peripheral demyelination/remyelination	3	GBF1 CL E G H	8729	4181	OMIM:606483	Charcot-Marie-Tooth disease, dominant intermediate A	.
HP:0012447	HP:0007262	Symmetric peripheral demyelination	3	GCDH CL E G H	2639	4189	OMIM:231670	Glutaric acidemia I			115
HP:0012447	HP:0007249	Decreased number of small peripheral myelinated nerve fibers	3	GDAP1 CL E G H	54332	15968	ORPHA:101097	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness			108
HP:0012447	HP:0003387	Decreased number of large peripheral myelinated nerve fibers	3	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A			108
HP:0012447	HP:0003387	Decreased number of large peripheral myelinated nerve fibers	3	GDAP1 CL E G H	54332	15968	OMIM:608340	Charcot-Marie-Tooth disease, recessive intermediate A	.		108
HP:0012447	HP:0007107	Segmental peripheral demyelination	3	GDAP1 CL E G H	54332	15968	OMIM:214400	Charcot-Marie-Tooth disease, type 4A			108
HP:0012447	HP:0003400	Basal lamina onion bulb formation	3	GDAP1 CL E G H	54332	15968	OMIM:214400	Charcot-Marie-Tooth disease, type 4A	.		108
HP:0012447	HP:0007162	Diffuse demyelination of the cerebral white matter	3	GFAP CL E G H	2670	4235	OMIM:203450	Alexander disease	.		188
HP:0012447	HP:0006808	Cerebral hypomyelination	3	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2	.		37
HP:0012447	HP:0003387	Decreased number of large peripheral myelinated nerve fibers	3	HK1 CL E G H	3098	4922	OMIM:605285	Neuropathy, hereditary motor and sensory, Russe type	.		11
HP:0012447	HP:0003387	Decreased number of large peripheral myelinated nerve fibers	3	HSPB8 CL E G H	26353	30171	OMIM:608673	Charcot-Marie-Tooth disease, axonal, type 2L	.		38
HP:0012447	HP:0007162	Diffuse demyelination of the cerebral white matter	3	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)	.		34
HP:0012447	HP:0006808	Cerebral hypomyelination	3	HYCC1 CL E G H	84668	24587	ORPHA:85163	Hypomyelination-congenital cataract syndrome	HP:0040281 - Very frequent
HP:0012447	HP:0007258	Severe demyelination of the white matter	3	L2HGDH CL E G H	79944	20499	OMIM:236792	L-2-Hydroxyglutaric aciduria	.		34
HP:0012447	HP:0003387	Decreased number of large peripheral myelinated nerve fibers	3	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent		1
HP:0012447	HP:0003481	Segmental peripheral demyelination/remyelination	3	LITAF CL E G H	9516	16841	OMIM:601098	Charcot-Marie-Tooth disease, demyelinating, type 1C	.		74
HP:0012447	HP:0003387	Decreased number of large peripheral myelinated nerve fibers	3	LMNA CL E G H	4000	6636	ORPHA:98856	Charcot-Marie-Tooth disease type 2B1			645
HP:0012447	HP:0007249	Decreased number of small peripheral myelinated nerve fibers	3	LMNA CL E G H	4000	6636	ORPHA:98856	Charcot-Marie-Tooth disease type 2B1			645
HP:0012447	HP:0007262	Symmetric peripheral demyelination	3	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant	.		44
HP:0012447	HP:0007258	Severe demyelination of the white matter	3	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040284 - Very rare		101
HP:0012447	HP:0003387	Decreased number of large peripheral myelinated nerve fibers	3	MME CL E G H	4311	7154	ORPHA:497764	Spinocerebellar ataxia type 43	HP:0040282 - Frequent		18
HP:0012447	HP:0004336	Myelin outfoldings	3	MPZ CL E G H	4359	7225	OMIM:118200	Charcot-Marie-Tooth disease, demyelinating, type 1B	.		134
HP:0012447	HP:0003481	Segmental peripheral demyelination/remyelination	3	MPZ CL E G H	4359	7225	OMIM:607791	Charcot-Marie-Tooth disease, dominant intermediate D	.		134
HP:0012447	HP:0030175	Myelin tomacula	3	MPZ CL E G H	4359	7225	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			134
HP:0012447	HP:0003481	Segmental peripheral demyelination/remyelination	3	MPZ CL E G H	4359	7225	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.		134
HP:0012447	HP:0003481	Segmental peripheral demyelination/remyelination	3	MPZ CL E G H	4359	7225	OMIM:180800	Roussy-Levy hereditary areflexic dystasia	.		134
HP:0012447	HP:0004336	Myelin outfoldings	3	MTMR2 CL E G H	8898	7450	OMIM:601382	Charcot-Marie-Tooth disease, type 4B1			88
HP:0012447	HP:0007208	Irregular myelin loops	3	MTMR2 CL E G H	8898	7450	OMIM:601382	Charcot-Marie-Tooth disease, type 4B1	.		88
HP:0012447	HP:0003481	Segmental peripheral demyelination/remyelination	3	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0012447	HP:0003481	Segmental peripheral demyelination/remyelination	3	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0012447	HP:0003481	Segmental peripheral demyelination/remyelination	3	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0012447	HP:0003481	Segmental peripheral demyelination/remyelination	3	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0012447	HP:0003481	Segmental peripheral demyelination/remyelination	3	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0012447	HP:0003481	Segmental peripheral demyelination/remyelination	3	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0012447	HP:0003481	Segmental peripheral demyelination/remyelination	3	NDRG1 CL E G H	10397	7679	OMIM:601455	Charcot-Marie-Tooth disease, type 4D	.		82
HP:0012447	HP:0003387	Decreased number of large peripheral myelinated nerve fibers	3	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F	HP:0040282 - Frequent		118
HP:0012447	HP:0004336	Myelin outfoldings	3	NEFL CL E G H	4747	7739	OMIM:607734	Charcot-Marie-Tooth disease, demyelinating, type 1F	.		118
HP:0012447	HP:0003481	Segmental peripheral demyelination/remyelination	3	NEFL CL E G H	4747	7739	OMIM:607734	Charcot-Marie-Tooth disease, demyelinating, type 1F	.		118
HP:0012447	HP:0007249	Decreased number of small peripheral myelinated nerve fibers	3	NGF CL E G H	4803	7808	ORPHA:64752	Hereditary sensory and autonomic neuropathy type 5	HP:0040282 - Frequent		20
HP:0012447	HP:0007249	Decreased number of small peripheral myelinated nerve fibers	3	NTRK1 CL E G H	4914	8031	ORPHA:64752	Hereditary sensory and autonomic neuropathy type 5	HP:0040282 - Frequent		97
HP:0012447	HP:0007249	Decreased number of small peripheral myelinated nerve fibers	3	NTRK1 CL E G H	4914	8031	OMIM:256800	Insensitivity to pain, congenital, with anhidrosis	.		97
HP:0012447	HP:0006808	Cerebral hypomyelination	3	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		8
HP:0012447	HP:0006808	Cerebral hypomyelination	3	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		20
HP:0012447	HP:0006808	Cerebral hypomyelination	3	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form	HP:0040282 - Frequent		37
HP:0012447	HP:0007258	Severe demyelination of the white matter	3	PIGG CL E G H	54872	25985	ORPHA:488635	Early-onset epilepsy-intellectual disability-brain anomalies syndrome	HP:0040283 - Occasional		7
HP:0012447	HP:0006808	Cerebral hypomyelination	3	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		36
HP:0012447	HP:0006808	Cerebral hypomyelination	3	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		84
HP:0012447	HP:0006808	Cerebral hypomyelination	3	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		57
HP:0012447	HP:0006808	Cerebral hypomyelination	3	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		6
HP:0012447	HP:0006808	Cerebral hypomyelination	3	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		2
HP:0012447	HP:0003387	Decreased number of large peripheral myelinated nerve fibers	3	PLEKHG5 CL E G H	57449	29105	OMIM:615376	Charcot-Marie-Tooth disease, recessive intermediate C	.		186
HP:0012447	HP:0003269	Sudanophilic leukodystrophy	3	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease			60
HP:0012447	HP:0006808	Cerebral hypomyelination	3	PLP1 CL E G H	5354	9086	ORPHA:280219	Pelizaeus-Merzbacher disease, classic form	HP:0040281 - Very frequent		60
HP:0012447	HP:0006808	Cerebral hypomyelination	3	PLP1 CL E G H	5354	9086	ORPHA:280210	Pelizaeus-Merzbacher disease, connatal form	HP:0040281 - Very frequent		60
HP:0012447	HP:0004336	Myelin outfoldings	3	PMP22 CL E G H	5376	9118	OMIM:118220	Charcot-Marie-Tooth disease, demyelinating, type 1A	.		79
HP:0012447	HP:0003481	Segmental peripheral demyelination/remyelination	3	PMP22 CL E G H	5376	9118	OMIM:118220	Charcot-Marie-Tooth disease, demyelinating, type 1A	.		79
HP:0012447	HP:0030175	Myelin tomacula	3	PMP22 CL E G H	5376	9118	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			79
HP:0012447	HP:0003481	Segmental peripheral demyelination/remyelination	3	PMP22 CL E G H	5376	9118	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.		79
HP:0012447	HP:0003481	Segmental peripheral demyelination/remyelination	3	PMP22 CL E G H	5376	9118	OMIM:162500	Neuropathy, hereditary, with liability to pressure palsies	.		79
HP:0012447	HP:0003481	Segmental peripheral demyelination/remyelination	3	PMP22 CL E G H	5376	9118	OMIM:180800	Roussy-Levy hereditary areflexic dystasia	.		79
HP:0012447	HP:0003387	Decreased number of large peripheral myelinated nerve fibers	3	PNPT1 CL E G H	87178	23166	ORPHA:101111	Spinocerebellar ataxia type 25	HP:0040282 - Frequent		60
HP:0012447	HP:0003387	Decreased number of large peripheral myelinated nerve fibers	3	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent		464
HP:0012447	HP:0003269	Sudanophilic leukodystrophy	3	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.		138
HP:0012447	HP:0006808	Cerebral hypomyelination	3	POLR3B CL E G H	55703	30348	OMIM:614381	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism	.		67
HP:0012447	HP:0007258	Severe demyelination of the white matter	3	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional		2
HP:0012447	HP:0008311	Spinal cord posterior columns myelin loss	3	PRPS1 CL E G H	5631	9462	OMIM:301835	Arts syndrome	.		49
HP:0012447	HP:0003481	Segmental peripheral demyelination/remyelination	3	PRPS1 CL E G H	5631	9462	OMIM:311070	Charcot-Marie-Tooth disease, X-linked recessive, 5			49
HP:0012447	HP:0008311	Spinal cord posterior columns myelin loss	3	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy	HP:0040282 - Frequent		49
HP:0012447	HP:0007258	Severe demyelination of the white matter	3	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy	HP:0040281 - Very frequent		49
HP:0012447	HP:0003387	Decreased number of large peripheral myelinated nerve fibers	3	PRX CL E G H	57716	13797	OMIM:614895	Charcot-Marie-Tooth disease, demyelinating, type 4F	.		170
HP:0012447	HP:0003400	Basal lamina onion bulb formation	3	PRX CL E G H	57716	13797	OMIM:614895	Charcot-Marie-Tooth disease, demyelinating, type 4F	.		170
HP:0012447	HP:0030175	Myelin tomacula	3	PRX CL E G H	57716	13797	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			170
HP:0012447	HP:0003481	Segmental peripheral demyelination/remyelination	3	PRX CL E G H	57716	13797	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.		170
HP:0012447	HP:0007258	Severe demyelination of the white matter	3	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy	HP:0040282 - Frequent		11
HP:0012447	HP:0006808	Cerebral hypomyelination	3	RARS1 CL E G H	5917	9870	ORPHA:438114	RARS-related autosomal recessive hypomyelinating leukodystrophy	HP:0040282 - Frequent
HP:0012447	HP:0003387	Decreased number of large peripheral myelinated nerve fibers	3	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent		125
HP:0012447	HP:0003387	Decreased number of large peripheral myelinated nerve fibers	3	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type			309
HP:0012447	HP:0004336	Myelin outfoldings	3	SBF1 CL E G H	6305	10542	OMIM:615284	Charcot-Marie-Tooth disease, type 4B3			16
HP:0012447	HP:0004336	Myelin outfoldings	3	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2			180
HP:0012447	HP:0003481	Segmental peripheral demyelination/remyelination	3	SBF2 CL E G H	81846	2135	OMIM:604563	Charcot-Marie-Tooth disease, type 4B2	.		180
HP:0012447	HP:0007107	Segmental peripheral demyelination	3	SH3TC2 CL E G H	79628	29427	OMIM:601596	Charcot-Marie-Tooth disease, type 4C	.		493
HP:0012447	HP:0003387	Decreased number of large peripheral myelinated nerve fibers	3	SH3TC2 CL E G H	79628	29427	OMIM:601596	Charcot-Marie-Tooth disease, type 4C	.		493
HP:0012447	HP:0003400	Basal lamina onion bulb formation	3	SH3TC2 CL E G H	79628	29427	OMIM:601596	Charcot-Marie-Tooth disease, type 4C	.		493
HP:0012447	HP:0006808	Cerebral hypomyelination	3	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	HP:0040283 - Occasional		4
HP:0012447	HP:0006808	Cerebral hypomyelination	3	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39	.		44
HP:0012447	HP:0006978	Dysmyelinating leukodystrophy	3	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease	.		61
HP:0012447	HP:0004336	Myelin outfoldings	3	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease	.		61
HP:0012447	HP:0006808	Cerebral hypomyelination	3	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E	.		61
HP:0012447	HP:0006808	Cerebral hypomyelination	3	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:0012447	HP:0003387	Decreased number of large peripheral myelinated nerve fibers	3	SPTLC1 CL E G H	10558	11277	OMIM:162400	Neuropathy, hereditary sensory and autonomic, type IA	.		54
HP:0012447	HP:0006808	Cerebral hypomyelination	3	STXBP1 CL E G H	6812	11444	OMIM:612164	Epileptic encephalopathy, early infantile, 4	.		237
HP:0012447	HP:0006808	Cerebral hypomyelination	3	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:0012447	HP:0006808	Cerebral hypomyelination	3	TMTC3 CL E G H	160418	26899	OMIM:617255	Lissencephaly 8			5
HP:0012447	HP:0007258	Severe demyelination of the white matter	3	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional		7
HP:0012447	HP:0003481	Segmental peripheral demyelination/remyelination	3	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0012447	HP:0003481	Segmental peripheral demyelination/remyelination	3	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0012447	HP:0003481	Segmental peripheral demyelination/remyelination	3	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0012447	HP:0003481	Segmental peripheral demyelination/remyelination	3	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0012447	HP:0006808	Cerebral hypomyelination	3	TUBB4A CL E G H	10382	20774	OMIM:612438	Leukodystrophy, hypomyelinating, 6	.		66
HP:0012447	HP:0003387	Decreased number of large peripheral myelinated nerve fibers	3	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent		138
HP:0012447	HP:0006808	Cerebral hypomyelination	3	VPS11 CL E G H	55823	14583	OMIM:616683	Leukodystrophy, hypomyelinating, 12			1
HP:0012447	HP:0006808	Cerebral hypomyelination	3	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome	HP:0040283 - Occasional		8
HP:0012447	HP:0006873	Symmetrical progressive peripheral demyelination	4	GCDH CL E G H	2639	4189	OMIM:231670	Glutaric acidemia I	.		115