Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal nervous system morphology (HP:0012639)

Parent Node:
Abnormal myelination (HP:0012447)

..Starting node
..Delayed myelination (HP:0012448)

Term ID:

12448

Name:

Delayed myelination

Synonym:

Definition:

Delayed myelination.

Comments:

Reference:

HP:0012448

Genes and Diseases:

Child Nodes:

........

Delayed CNS myelination (HP:0002188)

........

Delayed peripheral myelination (HP:0011401)

Sister Nodes:

Abnormal CNS myelination (HP:0011400)

Abnormal peripheral myelination (HP:0003130)

Demyelinating peripheral neuropathy (HP:0007108)

Hypermyelinated retinal nerve fibers (HP:0007922)

Mixed demyelinating and axonal polyneuropathy (HP:0007327)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012448	HP:0012448	Delayed myelination	0	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0012448	HP:0012448	Delayed myelination	0	ACTL6B CL E G H	51412	160	OMIM:618468	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE76		2
HP:0012448	HP:0012448	Delayed myelination	0	ACY1 CL E G H	95	177	OMIM:609924	Aminoacylase 1 deficiency		13
HP:0012448	HP:0012448	Delayed myelination	0	ADAMTSL1 CL E G H	92949	14632	ORPHA:521445	Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome	HP:0040282 - Frequent
HP:0012448	HP:0012448	Delayed myelination	0	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS		1
HP:0012448	HP:0012448	Delayed myelination	0	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome	HP:0040283 - Occasional	9
HP:0012448	HP:0012448	Delayed myelination	0	ADAT3 CL E G H	113179	25151	OMIM:615286	Mental retardation, autosomal recessive 36	.	9
HP:0012448	HP:0012448	Delayed myelination	0	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency	HP:0040282 - Frequent	31
HP:0012448	HP:0012448	Delayed myelination	0	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome	HP:0040283 - Occasional	36
HP:0012448	HP:0012448	Delayed myelination	0	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome	.	36
HP:0012448	HP:0012448	Delayed myelination	0	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration		60
HP:0012448	HP:0012448	Delayed myelination	0	ALDH5A1 CL E G H	7915	408	OMIM:271980	Succinic semialdehyde dehydrogenase deficiency		108
HP:0012448	HP:0012448	Delayed myelination	0	ALDH6A1 CL E G H	4329	7179	OMIM:614105	Methylmalonate semialdehyde dehydrogenase deficiency	.	35
HP:0012448	HP:0012448	Delayed myelination	0	ALDH7A1 CL E G H	501	877	ORPHA:3006	Pyridoxine-dependent epilepsy		227
HP:0012448	HP:0012448	Delayed myelination	0	ALG11 CL E G H	440138	32456	ORPHA:280071	ALG11-CDG	HP:0040283 - Occasional	41
HP:0012448	HP:0012448	Delayed myelination	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040283 - Occasional	68
HP:0012448	HP:0012448	Delayed myelination	0	ALG13 CL E G H	79868	30881	OMIM:300884	Epileptic encephalopathy, early infantile, 36	.	96
HP:0012448	HP:0012448	Delayed myelination	0	ALG14 CL E G H	199857	28287	OMIM:619031	INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES; IDDEBF		12
HP:0012448	HP:0012448	Delayed myelination	0	ALG14 CL E G H	199857	28287	OMIM:619036	MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA		12
HP:0012448	HP:0012448	Delayed myelination	0	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii		46
HP:0012448	HP:0012448	Delayed myelination	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional	93
HP:0012448	HP:0012448	Delayed myelination	0	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il		93
HP:0012448	HP:0012448	Delayed myelination	0	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10		1
HP:0012448	HP:0012448	Delayed myelination	0	ARF1 CL E G H	375	652	OMIM:618185	Periventricular nodular heterotopia 8	.
HP:0012448	HP:0012448	Delayed myelination	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0012448	HP:0012448	Delayed myelination	0	ARNT2 CL E G H	9915	16876	OMIM:615926	Webb-Dattani syndrome	.
HP:0012448	HP:0012448	Delayed myelination	0	ARX CL E G H	170302	18060	OMIM:308350	Developmental and epileptic encephalopathy 1		166
HP:0012448	HP:0012448	Delayed myelination	0	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	166
HP:0012448	HP:0012448	Delayed myelination	0	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52		1
HP:0012448	HP:0012448	Delayed myelination	0	ASNS CL E G H	440	753	OMIM:615574	Asparagine synthetase deficiency	.	17
HP:0012448	HP:0012448	Delayed myelination	0	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040283 - Occasional	145
HP:0012448	HP:0012448	Delayed myelination	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome		145
HP:0012448	HP:0012448	Delayed myelination	0	ATP1A3 CL E G H	478	801	OMIM:619606	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99		150
HP:0012448	HP:0012448	Delayed myelination	0	ATP6AP2 CL E G H	10159	18305	OMIM:300423	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH		36
HP:0012448	HP:0012448	Delayed myelination	0	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1		72
HP:0012448	HP:0012448	Delayed myelination	0	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6		38
HP:0012448	HP:0012448	Delayed myelination	0	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal	HP:0040283 - Occasional	20
HP:0012448	HP:0012448	Delayed myelination	0	C18ORF32 CL E G H	497661	31690	OMIM:619985
HP:0012448	HP:0012448	Delayed myelination	0	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0012448	HP:0012448	Delayed myelination	0	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	118
HP:0012448	HP:0012448	Delayed myelination	0	CDC40 CL E G H	51362	17350	OMIM:619302	PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0012448	HP:0012448	Delayed myelination	0	CDK19 CL E G H	23097	19338	OMIM:618916	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87
HP:0012448	HP:0012448	Delayed myelination	0	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	405
HP:0012448	HP:0012448	Delayed myelination	0	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40		16
HP:0012448	HP:0012448	Delayed myelination	0	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0012448	HP:0012448	Delayed myelination	0	CLCN3 CL E G H	1182	2021	OMIM:619517	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA		2
HP:0012448	HP:0012448	Delayed myelination	0	CLCN4 CL E G H	1183	2022	ORPHA:485350	CLCN4-related X-linked intellectual disability syndrome	HP:0040283 - Occasional	45
HP:0012448	HP:0012448	Delayed myelination	0	CLCN7 CL E G H	1186	2025	OMIM:618541	Hypopigmentation, organomegaly, and delayed myelination and development		102
HP:0012448	HP:0012448	Delayed myelination	0	CLP1 CL E G H	10978	16999	OMIM:615803	Pontocerebellar hypoplasia, type 10	.	7
HP:0012448	HP:0012448	Delayed myelination	0	CLPB CL E G H	81570	30664	OMIM:619835	3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA; MGCA7A		38
HP:0012448	HP:0012448	Delayed myelination	0	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56		1
HP:0012448	HP:0012448	Delayed myelination	0	CLTCL1 CL E G H	8218	2093	ORPHA:453510	Congenital insensitivity to pain with severe intellectual disability		6
HP:0012448	HP:0012448	Delayed myelination	0	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0012448	HP:0012448	Delayed myelination	0	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG	HP:0040283 - Occasional	79
HP:0012448	HP:0012448	Delayed myelination	0	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe	.	64
HP:0012448	HP:0012448	Delayed myelination	0	COPB2 CL E G H	9276	2232	OMIM:619884
HP:0012448	HP:0012448	Delayed myelination	0	COPB2 CL E G H	9276	2232	OMIM:617800	Microcephaly 19, primary, autosomal recessive	.
HP:0012448	HP:0012448	Delayed myelination	0	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2	HP:0040283 - Occasional	6
HP:0012448	HP:0012448	Delayed myelination	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040283 - Occasional	291
HP:0012448	HP:0012448	Delayed myelination	0	CTNNB1 CL E G H	1499	2514	ORPHA:404473	Severe intellectual disability-progressive spastic diplegia syndrome		88
HP:0012448	HP:0012448	Delayed myelination	0	CUL3 CL E G H	8452	2553	OMIM:619239	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS		92
HP:0012448	HP:0012448	Delayed myelination	0	CYB5A CL E G H	1528	2570	ORPHA:621	Hereditary methemoglobinemia	HP:0040284 - Very rare	2
HP:0012448	HP:0012448	Delayed myelination	0	CYB5R3 CL E G H	1727	2873	ORPHA:621	Hereditary methemoglobinemia	HP:0040284 - Very rare	24
HP:0012448	HP:0012448	Delayed myelination	0	D2HGDH CL E G H	728294	28358	OMIM:600721	D-2-Hydroxyglutaric aciduria 1		102
HP:0012448	HP:0012448	Delayed myelination	0	DCX CL E G H	1641	2714	ORPHA:2148	Lissencephaly type 1 due to doublecortin gene mutation	HP:0040283 - Occasional	145
HP:0012448	HP:0012448	Delayed myelination	0	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0012448	HP:0012448	Delayed myelination	0	DHFR CL E G H	1719	2861	OMIM:613839	Megaloblastic anemia due to dihydrofolate reductase deficiency	.	7
HP:0012448	HP:0012448	Delayed myelination	0	DHX30 CL E G H	22907	16716	OMIM:617804	Neurodevelopmental disorder with severe motor impairment and absent language	.	4
HP:0012448	HP:0012448	Delayed 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:0012448	HP:0012448	Delayed myelination	0	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	3
HP:0012448	HP:0012448	Delayed myelination	0	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1		94
HP:0012448	HP:0012448	Delayed myelination	0	DOHH CL E G H	83475	28662	OMIM:620066
HP:0012448	HP:0012448	Delayed myelination	0	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG	HP:0040282 - Frequent	27
HP:0012448	HP:0012448	Delayed myelination	0	EIF2AK2 CL E G H	5610	9437	OMIM:618877	LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0012448	HP:0012448	Delayed myelination	0	ELOVL4 CL E G H	6785	14415	OMIM:614457	Ichthyosis, spastic quadriplegia, and mental retardation	HP:0040283 - Occasional	62
HP:0012448	HP:0012448	Delayed myelination	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040283 - Occasional	250
HP:0012448	HP:0012448	Delayed myelination	0	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1	.	199
HP:0012448	HP:0012448	Delayed myelination	0	EXOC8 CL E G H	149371	24659	OMIM:619076	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY; NEDMISB		1
HP:0012448	HP:0012448	Delayed myelination	0	EXOSC1 CL E G H	51013	17286	OMIM:619304	PONTOCEREBELLAR HYPOPLASIA, TYPE 1F; PCH1F
HP:0012448	HP:0012448	Delayed myelination	0	EXOSC2 CL E G H	23404	17097	OMIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies	.
HP:0012448	HP:0012448	Delayed myelination	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome		81
HP:0012448	HP:0012448	Delayed myelination	0	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB		58
HP:0012448	HP:0012448	Delayed myelination	0	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L		53
HP:0012448	HP:0012448	Delayed myelination	0	FAR1 CL E G H	84188	26222	OMIM:616154	PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD		7
HP:0012448	HP:0012448	Delayed myelination	0	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	.	384
HP:0012448	HP:0012448	Delayed myelination	0	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0012448	HP:0012448	Delayed myelination	0	FCSK CL E G H	197258	29500	OMIM:618324	Congenital disorder of glycosylation with defective fucosylation 2
HP:0012448	HP:0012448	Delayed myelination	0	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome	HP:0040283 - Occasional
HP:0012448	HP:0012448	Delayed myelination	0	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome	.	332
HP:0012448	HP:0012448	Delayed myelination	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0012448	HP:0012448	Delayed myelination	0	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant	.	177
HP:0012448	HP:0012448	Delayed myelination	0	FOXP1 CL E G H	27086	3823	OMIM:613670	Mental retardation with language impairment and with or without autistic features		184
HP:0012448	HP:0012448	Delayed myelination	0	FOXRED1 CL E G H	55572	26927	OMIM:618241	Mitochondrial complex I deficiency, nuclear type 19	.	61
HP:0012448	HP:0012448	Delayed myelination	0	FRMD5 CL E G H	84978	28214	OMIM:620094
HP:0012448	HP:0012448	Delayed myelination	0	FRMPD4 CL E G H	9758	29007	OMIM:300983	MENTAL RETARDATION, X-LINKED 104; MRX104		32
HP:0012448	HP:0012448	Delayed myelination	0	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:0012448	HP:0012448	Delayed myelination	0	GCDH CL E G H	2639	4189	OMIM:231670	Glutaric acidemia I	.	115
HP:0012448	HP:0012448	Delayed myelination	0	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities	.	1
HP:0012448	HP:0012448	Delayed myelination	0	GFM1 CL E G H	85476	13780	OMIM:609060	Combined oxidative phosphorylation deficiency 1	.	85
HP:0012448	HP:0012448	Delayed myelination	0	GLS CL E G H	2744	4331	OMIM:618339	Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development	.
HP:0012448	HP:0012448	Delayed myelination	0	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA	.	6
HP:0012448	HP:0012448	Delayed myelination	0	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6	.	3
HP:0012448	HP:0012448	Delayed myelination	0	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	36
HP:0012448	HP:0012448	Delayed myelination	0	GNAO1 CL E G H	2775	4389	OMIM:615473	Epileptic encephalopathy, early infantile, 17	.	36
HP:0012448	HP:0012448	Delayed myelination	0	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:0012448	HP:0012448	Delayed myelination	0	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42		12
HP:0012448	HP:0012448	Delayed myelination	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0012448	HP:0012448	Delayed 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:0012448	HP:0012448	Delayed myelination	0	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	108
HP:0012448	HP:0012448	Delayed myelination	0	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	5
HP:0012448	HP:0012448	Delayed myelination	0	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive		3
HP:0012448	HP:0012448	Delayed myelination	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0012448	HP:0012448	Delayed myelination	0	HACE1 CL E G H	57531	21033	OMIM:616756	Spastic paraplegia and psychomotor retardation with or without seizures	HP:0040283 - Occasional	10
HP:0012448	HP:0012448	Delayed myelination	0	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome		10
HP:0012448	HP:0012448	Delayed myelination	0	HIKESHI CL E G H	51501	26938	OMIM:616881	Leukodystrophy, hypomyelinating, 13	.	3
HP:0012448	HP:0012448	Delayed myelination	0	HNRNPU CL E G H	3192	5048	OMIM:617391	Epileptic encephalopathy, early infantile, 54	.	39
HP:0012448	HP:0012448	Delayed myelination	0	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0012448	HP:0012448	Delayed myelination	0	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		15
HP:0012448	HP:0012448	Delayed myelination	0	IER3IP1 CL E G H	51124	18550	OMIM:614231	Microcephaly, epilepsy, and diabetes syndrome	.	6
HP:0012448	HP:0012448	Delayed myelination	0	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7		28
HP:0012448	HP:0012448	Delayed myelination	0	IREB2 CL E G H	3658	6115	OMIM:618451	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia	.
HP:0012448	HP:0012448	Delayed myelination	0	ISCA1 CL E G H	81689	28660	OMIM:617613	Multiple mitochondrial dysfunctions syndrome 5	.	1
HP:0012448	HP:0012448	Delayed myelination	0	ITPA CL E G H	3704	6176	OMIM:616647	Epileptic encephalopathy, early infantile, 35		8
HP:0012448	HP:0012448	Delayed myelination	0	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	145
HP:0012448	HP:0012448	Delayed myelination	0	KCNC2 CL E G H	3747	6234	OMIM:619913
HP:0012448	HP:0012448	Delayed myelination	0	KCNN2 CL E G H	3781	6291	OMIM:619725	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0012448	HP:0012448	Delayed myelination	0	KCNT1 CL E G H	57582	18865	OMIM:614959	Epileptic encephalopathy, early infantile, 14	.	321
HP:0012448	HP:0012448	Delayed myelination	0	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features		3
HP:0012448	HP:0012448	Delayed myelination	0	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0012448	HP:0012448	Delayed myelination	0	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO		4
HP:0012448	HP:0012448	Delayed myelination	0	KIF5A CL E G H	3798	6323	OMIM:617235	Myoclonus, intractable, neonatal	.	93
HP:0012448	HP:0012448	Delayed myelination	0	KMT2E CL E G H	55904	18541	OMIM:618512	O'donnell-Luria-Rodan syndrome	.	1
HP:0012448	HP:0012448	Delayed myelination	0	LIPT1 CL E G H	51601	29569	OMIM:616299	Lipoyltransferase 1 deficiency	.	21
HP:0012448	HP:0012448	Delayed myelination	0	LIPT2 CL E G H	387787	37216	OMIM:617668	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities	.	2
HP:0012448	HP:0012448	Delayed myelination	0	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome		165
HP:0012448	HP:0012448	Delayed myelination	0	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH		5
HP:0012448	HP:0012448	Delayed myelination	0	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH		5
HP:0012448	HP:0012448	Delayed myelination	0	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis	.	136
HP:0012448	HP:0012448	Delayed myelination	0	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities	.
HP:0012448	HP:0012448	Delayed myelination	0	MDH2 CL E G H	4191	6971	OMIM:617339	Epileptic encephalopathy, early infantile, 51	.	4
HP:0012448	HP:0012448	Delayed myelination	0	MLYCD CL E G H	23417	7150	OMIM:248360	Malonyl-CoA decarboxylase deficiency		80
HP:0012448	HP:0012448	Delayed myelination	0	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
HP:0012448	HP:0012448	Delayed myelination	0	MORC2 CL E G H	22880	23573	OMIM:619090	DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY; DIGFAN		8
HP:0012448	HP:0012448	Delayed myelination	0	MRPS22 CL E G H	56945	14508	OMIM:611719	Combined oxidative phosphorylation deficiency 5	.	25
HP:0012448	HP:0012448	Delayed myelination	0	MTHFS CL E G H	10588	7437	OMIM:618367	Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination	.
HP:0012448	HP:0012448	Delayed myelination	0	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE	HP:0040283 - Occasional	88
HP:0012448	HP:0012448	Delayed myelination	0	NACC1 CL E G H	112939	20967	OMIM:617393	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination	.	1
HP:0012448	HP:0012448	Delayed myelination	0	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:0012448	HP:0012448	Delayed myelination	0	NARS1 CL E G H	4677	7643	OMIM:619091	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG
HP:0012448	HP:0012448	Delayed myelination	0	NCDN CL E G H	23154	17597	OMIM:619373	NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS; NEDIES
HP:0012448	HP:0012448	Delayed myelination	0	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional
HP:0012448	HP:0012448	Delayed myelination	0	NEUROD2 CL E G H	4761	7763	OMIM:618374	Epileptic encephalopathy, early infantile, 72
HP:0012448	HP:0012448	Delayed myelination	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040283 - Occasional	32
HP:0012448	HP:0012448	Delayed myelination	0	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0012448	HP:0012448	Delayed 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:0012448	HP:0012448	Delayed myelination	0	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome	HP:0040284 - Very rare	37
HP:0012448	HP:0012448	Delayed myelination	0	NRCAM CL E G H	4897	7994	OMIM:619833			2
HP:0012448	HP:0012448	Delayed myelination	0	NRROS CL E G H	375387	24613	OMIM:618875	SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS; SENEBAC		1
HP:0012448	HP:0012448	Delayed myelination	0	NTRK2 CL E G H	4915	8032	OMIM:617830	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58; EIEE58		8
HP:0012448	HP:0012448	Delayed myelination	0	NTRK2 CL E G H	4915	8032	OMIM:613886	Obesity, hyperphagia, and developmental delay	HP:0040284 - Very rare	8
HP:0012448	HP:0012448	Delayed myelination	0	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF		4
HP:0012448	HP:0012448	Delayed myelination	0	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040282 - Frequent	121
HP:0012448	HP:0012448	Delayed myelination	0	PAK1 CL E G H	5058	8590	OMIM:618158	Intellectual developmental disorder with macrocephaly, seizures, and speech delay	HP:0040284 - Very rare
HP:0012448	HP:0012448	Delayed myelination	0	PEX7 CL E G H	5191	8860	OMIM:215100	Rhizomelic chondrodysplasia punctata, type 1		72
HP:0012448	HP:0012448	Delayed myelination	0	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42		20
HP:0012448	HP:0012448	Delayed myelination	0	PHACTR1 CL E G H	221692	20990	OMIM:618298	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE70		1
HP:0012448	HP:0012448	Delayed myelination	0	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form	HP:0040282 - Frequent	37
HP:0012448	HP:0012448	Delayed myelination	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	.	46
HP:0012448	HP:0012448	Delayed myelination	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040282 - Frequent	37
HP:0012448	HP:0012448	Delayed myelination	0	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	2
HP:0012448	HP:0012448	Delayed myelination	0	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	3
HP:0012448	HP:0012448	Delayed myelination	0	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0012448	HP:0012448	Delayed myelination	0	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0012448	HP:0012448	Delayed myelination	0	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation		57
HP:0012448	HP:0012448	Delayed myelination	0	PKDCC CL E G H	91461	25123	OMIM:618821	RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0012448	HP:0012448	Delayed myelination	0	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies		3
HP:0012448	HP:0012448	Delayed myelination	0	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder	HP:0040282 - Frequent	3
HP:0012448	HP:0012448	Delayed myelination	0	PLPBP CL E G H	11212	9457	ORPHA:3006	Pyridoxine-dependent epilepsy		6
HP:0012448	HP:0012448	Delayed myelination	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040282 - Frequent	150
HP:0012448	HP:0012448	Delayed myelination	0	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	244
HP:0012448	HP:0012448	Delayed myelination	0	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13	HP:0040282 - Frequent	60
HP:0012448	HP:0012448	Delayed myelination	0	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040284 - Very rare	35
HP:0012448	HP:0012448	Delayed myelination	0	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome		35
HP:0012448	HP:0012448	Delayed myelination	0	POLR2A CL E G H	5430	9187	OMIM:618603	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0012448	HP:0012448	Delayed myelination	0	POLR3B CL E G H	55703	30348	OMIM:619742	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I		67
HP:0012448	HP:0012448	Delayed myelination	0	POU3F3 CL E G H	5455	9216	OMIM:618604	SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS
HP:0012448	HP:0012448	Delayed myelination	0	PPIL1 CL E G H	51645	9260	OMIM:619301	PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0012448	HP:0012448	Delayed myelination	0	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2	HP:0040283 - Occasional	2
HP:0012448	HP:0012448	Delayed myelination	0	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional	2
HP:0012448	HP:0012448	Delayed myelination	0	PPP2CA CL E G H	5515	9299	OMIM:618354	Neurodevelopmental disorder and language delay with or without structural brain abnormalities	.	2
HP:0012448	HP:0012448	Delayed myelination	0	PPP2R1A CL E G H	5518	9302	OMIM:616362	Mental retardation, autosomal dominant 36	.	13
HP:0012448	HP:0012448	Delayed myelination	0	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome	HP:0040282 - Frequent	13
HP:0012448	HP:0012448	Delayed myelination	0	PPP3CA CL E G H	5530	9314	OMIM:617711	Epileptic encephalopathy, infantile or early childhood, 1	.	2
HP:0012448	HP:0012448	Delayed myelination	0	PRMT7 CL E G H	54496	25557	OMIM:617157	Short stature, brachydactyly, intellectual developmental disability, and seizures	.	6
HP:0012448	HP:0012448	Delayed myelination	0	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:0012448	HP:0012448	Delayed myelination	0	PRUNE1 CL E G H	58497	13420	OMIM:617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	.	8
HP:0012448	HP:0012448	Delayed myelination	0	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome		8
HP:0012448	HP:0012448	Delayed myelination	0	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form	HP:0040283 - Occasional	27
HP:0012448	HP:0012448	Delayed myelination	0	PURA CL E G H	5813	9701	OMIM:616158	Mental retardation, autosomal dominant 31	.	53
HP:0012448	HP:0012448	Delayed myelination	0	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:0012448	HP:0012448	Delayed myelination	0	RAB11B CL E G H	9230	9761	OMIM:617807	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter	.
HP:0012448	HP:0012448	Delayed myelination	0	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1		90
HP:0012448	HP:0012448	Delayed myelination	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0012448	HP:0012448	Delayed 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:0012448	HP:0012448	Delayed myelination	0	RHOBTB2 CL E G H	23221	18756	OMIM:618004	Epileptic encephalopathy, early infantile, 64	.	1
HP:0012448	HP:0012448	Delayed myelination	0	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11	.	26
HP:0012448	HP:0012448	Delayed myelination	0	RNASEH2C CL E G H	84153	24116	OMIM:610329	Aicardi-Goutieres syndrome 3	.	60
HP:0012448	HP:0012448	Delayed myelination	0	RNF13 CL E G H	11342	10057	OMIM:618379	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73
HP:0012448	HP:0012448	Delayed myelination	0	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0012448	HP:0012448	Delayed myelination	0	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0012448	HP:0012448	Delayed myelination	0	SATB2 CL E G H	23314	21637	ORPHA:576283	SATB2-associated syndrome due to a pathogenic variant	HP:0040282 - Frequent	34
HP:0012448	HP:0012448	Delayed myelination	0	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	126
HP:0012448	HP:0012448	Delayed myelination	0	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	427
HP:0012448	HP:0012448	Delayed myelination	0	SEPSECS CL E G H	51091	30605	OMIM:613811	Pontocerebellar hypoplasia, type 2D	.	66
HP:0012448	HP:0012448	Delayed myelination	0	SETD1A CL E G H	9739	29010	OMIM:618832	EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY; EPEDD		6
HP:0012448	HP:0012448	Delayed myelination	0	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome		53
HP:0012448	HP:0012448	Delayed myelination	0	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	11
HP:0012448	HP:0012448	Delayed myelination	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0012448	HP:0012448	Delayed myelination	0	SLC12A5 CL E G H	57468	13818	OMIM:616645	Epileptic encephalopathy, early infantile, 34		8
HP:0012448	HP:0012448	Delayed myelination	0	SLC13A5 CL E G H	284111	23089	OMIM:615905	Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta	.	73
HP:0012448	HP:0012448	Delayed myelination	0	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome	HP:0040282 - Frequent	57
HP:0012448	HP:0012448	Delayed myelination	0	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome		57
HP:0012448	HP:0012448	Delayed myelination	0	SLC1A2 CL E G H	6506	10940	OMIM:617105	Epileptic encephalopathy, early infantile, 41		3
HP:0012448	HP:0012448	Delayed myelination	0	SLC1A4 CL E G H	6509	10942	OMIM:616657	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly		4
HP:0012448	HP:0012448	Delayed myelination	0	SLC25A1 CL E G H	6576	10979	OMIM:615182	Combined d-2- and l-2-hydroxyglutaric aciduria	.	28
HP:0012448	HP:0012448	Delayed myelination	0	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	166
HP:0012448	HP:0012448	Delayed myelination	0	SLC25A22 CL E G H	79751	19954	OMIM:609304	Epileptic encephalopathy, early infantile, 3	.	166
HP:0012448	HP:0012448	Delayed myelination	0	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin	HP:0040283 - Occasional	255
HP:0012448	HP:0012448	Delayed myelination	0	SLC2A1 CL E G H	6513	11005	OMIM:608885	Stomatin-Deficient cryohydrocytosis with neurologic defects	.	255
HP:0012448	HP:0012448	Delayed myelination	0	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm		27
HP:0012448	HP:0012448	Delayed myelination	0	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG	HP:0040282 - Frequent	27
HP:0012448	HP:0012448	Delayed myelination	0	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked	.	122
HP:0012448	HP:0012448	Delayed myelination	0	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome		2
HP:0012448	HP:0012448	Delayed myelination	0	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A		164
HP:0012448	HP:0012448	Delayed myelination	0	SPATA5 CL E G H	166378	18119	OMIM:616577	Epilepsy, hearing loss, and mental retardation syndrome		19
HP:0012448	HP:0012448	Delayed myelination	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0012448	HP:0012448	Delayed myelination	0	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome	.	24
HP:0012448	HP:0012448	Delayed myelination	0	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome		237
HP:0012448	HP:0012448	Delayed myelination	0	STXBP1 CL E G H	6812	11444	OMIM:612164	Epileptic encephalopathy, early infantile, 4		237
HP:0012448	HP:0012448	Delayed myelination	0	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	HP:0040283 - Occasional	1
HP:0012448	HP:0012448	Delayed myelination	0	TAF13 CL E G H	6884	11546	OMIM:617432	Mental retardation, autosomal recessive 60	HP:0040283 - Occasional	2
HP:0012448	HP:0012448	Delayed myelination	0	TAF2 CL E G H	6873	11536	OMIM:615599	Mental retardation, autosomal recessive 40	.	7
HP:0012448	HP:0012448	Delayed myelination	0	TAF2 CL E G H	6873	11536	ORPHA:397951	Microcephaly-thin corpus callosum-intellectual disability syndrome	HP:0040282 - Frequent	7
HP:0012448	HP:0012448	Delayed myelination	0	TBC1D24 CL E G H	57465	29203	OMIM:615338	Epileptic encephalopathy, early infantile, 16	.	271
HP:0012448	HP:0012448	Delayed myelination	0	TBC1D24 CL E G H	57465	29203	ORPHA:352596	Progressive myoclonic epilepsy with dystonia		271
HP:0012448	HP:0012448	Delayed myelination	0	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome	.	52
HP:0012448	HP:0012448	Delayed myelination	0	TGFB1 CL E G H	7040	11766	OMIM:618213	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE		13
HP:0012448	HP:0012448	Delayed myelination	0	TIMM22 CL E G H	29928	17317	OMIM:618851	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43; COXPD43
HP:0012448	HP:0012448	Delayed myelination	0	TKFC CL E G H	26007	24552	OMIM:618805	TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0012448	HP:0012448	Delayed myelination	0	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16
HP:0012448	HP:0012448	Delayed myelination	0	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0012448	HP:0012448	Delayed myelination	0	TMEM240 CL E G H	339453	25186	OMIM:607454	Spinocerebellar ataxia 21		9
HP:0012448	HP:0012448	Delayed myelination	0	TMEM63A CL E G H	9725	29118	OMIM:618688	LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0012448	HP:0012448	Delayed myelination	0	TNPO2 CL E G H	30000	19998	OMIM:619556	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0012448	HP:0012448	Delayed myelination	0	TNR CL E G H	7143	11953	OMIM:619653	NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO		7
HP:0012448	HP:0012448	Delayed myelination	0	TRAPPC2L CL E G H	51693	30887	OMIM:618331	Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis	.
HP:0012448	HP:0012448	Delayed myelination	0	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	1
HP:0012448	HP:0012448	Delayed myelination	0	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS		1
HP:0012448	HP:0012448	Delayed myelination	0	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional	7
HP:0012448	HP:0012448	Delayed myelination	0	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26	.	4
HP:0012448	HP:0012448	Delayed 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:0012448	HP:0012448	Delayed myelination	0	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.	2
HP:0012448	HP:0012448	Delayed myelination	0	TXN2 CL E G H	25828	17772	ORPHA:478029	Combined oxidative phosphorylation defect type 29	HP:0040281 - Very frequent	1
HP:0012448	HP:0012448	Delayed myelination	0	TXN2 CL E G H	25828	17772	OMIM:616811	Combined oxidative phosphorylation deficiency 29		1
HP:0012448	HP:0012448	Delayed myelination	0	UBA5 CL E G H	79876	23230	OMIM:617132	Epileptic encephalopathy, early infantile, 44	.	13
HP:0012448	HP:0012448	Delayed myelination	0	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040282 - Frequent	278
HP:0012448	HP:0012448	Delayed myelination	0	UFC1 CL E G H	51506	26941	OMIM:618076	Neurodevelopmental disorder with spasticity and poor growth	HP:0040284 - Very rare
HP:0012448	HP:0012448	Delayed myelination	0	UGDH CL E G H	7358	12525	OMIM:618792	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0012448	HP:0012448	Delayed myelination	0	UPB1 CL E G H	51733	16297	OMIM:613161	Beta-Ureidopropionase deficiency		44
HP:0012448	HP:0012448	Delayed myelination	0	VPS11 CL E G H	55823	14583	OMIM:616683	Leukodystrophy, hypomyelinating, 12	.	1
HP:0012448	HP:0012448	Delayed myelination	0	VPS11 CL E G H	55823	14583	ORPHA:466934	VPS11-related autosomal recessive hypomyelinating leukodystrophy		1
HP:0012448	HP:0012448	Delayed myelination	0	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	HP:0040283 - Occasional	1
HP:0012448	HP:0012448	Delayed myelination	0	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome		1
HP:0012448	HP:0012448	Delayed 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:0012448	HP:0012448	Delayed myelination	0	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect	HP:0040282 - Frequent	2
HP:0012448	HP:0012448	Delayed myelination	0	WWOX CL E G H	51741	12799	OMIM:616211	Epileptic encephalopathy, early infantile, 28	HP:0040283 - Occasional	149
HP:0012448	HP:0012448	Delayed myelination	0	YRDC CL E G H	79693	28905	OMIM:619609	GALLOWAY-MOWAT SYNDROME 10; GAMOS10
HP:0012448	HP:0012448	Delayed myelination	0	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome	.	7
HP:0012448	HP:0012448	Delayed myelination	0	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040283 - Occasional	7
HP:0012448	HP:0012448	Delayed myelination	0	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome	.	19
HP:0012448	HP:0012448	Delayed myelination	0	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR		19
HP:0012448	HP:0012448	Delayed myelination	0	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0012448	HP:0012448	Delayed myelination	0	ZNF148 CL E G H	7707	12933	OMIM:617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies		4
HP:0012448	HP:0012448	Delayed myelination	0	ZNF335 CL E G H	63925	15807	OMIM:615095	Microcephaly 10, primary, autosomal recessive	.	60
HP:0012448	HP:0012448	Delayed myelination	0	ZNF526 CL E G H	116115	29415	OMIM:619877			24
HP:0012448	HP:0002188	Delayed CNS myelination	1	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0012448	HP:0002188	Delayed CNS myelination	1	ACTL6B CL E G H	51412	160	OMIM:618468	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE76		2
HP:0012448	HP:0002188	Delayed CNS myelination	1	ACY1 CL E G H	95	177	OMIM:609924	Aminoacylase 1 deficiency	.	13
HP:0012448	HP:0002188	Delayed CNS myelination	1	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS		1
HP:0012448	HP:0002188	Delayed CNS myelination	1	ADAT3 CL E G H	113179	25151	OMIM:615286	Mental retardation, autosomal recessive 36		9
HP:0012448	HP:0002188	Delayed CNS myelination	1	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome		36
HP:0012448	HP:0002188	Delayed CNS myelination	1	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration	.	60
HP:0012448	HP:0002188	Delayed CNS myelination	1	ALDH5A1 CL E G H	7915	408	OMIM:271980	Succinic semialdehyde dehydrogenase deficiency		108
HP:0012448	HP:0002188	Delayed CNS myelination	1	ALDH7A1 CL E G H	501	877	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040283 - Occasional	227
HP:0012448	HP:0002188	Delayed CNS myelination	1	ALG13 CL E G H	79868	30881	OMIM:300884	Epileptic encephalopathy, early infantile, 36		96
HP:0012448	HP:0002188	Delayed 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:0012448	HP:0002188	Delayed CNS myelination	1	ALG14 CL E G H	199857	28287	OMIM:619036	MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA		12
HP:0012448	HP:0002188	Delayed CNS myelination	1	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii		46
HP:0012448	HP:0002188	Delayed CNS myelination	1	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il		93
HP:0012448	HP:0002188	Delayed CNS myelination	1	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10		1
HP:0012448	HP:0002188	Delayed CNS myelination	1	ARF1 CL E G H	375	652	OMIM:618185	Periventricular nodular heterotopia 8
HP:0012448	HP:0002188	Delayed CNS myelination	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0012448	HP:0002188	Delayed CNS myelination	1	ARX CL E G H	170302	18060	OMIM:308350	Developmental and epileptic encephalopathy 1		166
HP:0012448	HP:0002188	Delayed CNS myelination	1	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52		1
HP:0012448	HP:0011401	Delayed peripheral myelination	1	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.	145
HP:0012448	HP:0002188	Delayed CNS myelination	1	ATP1A3 CL E G H	478	801	OMIM:619606	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99		150
HP:0012448	HP:0002188	Delayed CNS myelination	1	ATP6AP2 CL E G H	10159	18305	OMIM:300423	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH		36
HP:0012448	HP:0002188	Delayed CNS myelination	1	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1		72
HP:0012448	HP:0002188	Delayed CNS myelination	1	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6		38
HP:0012448	HP:0002188	Delayed CNS myelination	1	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal		20
HP:0012448	HP:0002188	Delayed CNS myelination	1	C18ORF32 CL E G H	497661	31690	OMIM:619985
HP:0012448	HP:0002188	Delayed CNS myelination	1	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0012448	HP:0002188	Delayed CNS myelination	1	CDC40 CL E G H	51362	17350	OMIM:619302	PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0012448	HP:0002188	Delayed CNS myelination	1	CDK19 CL E G H	23097	19338	OMIM:618916	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87
HP:0012448	HP:0002188	Delayed CNS myelination	1	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40		16
HP:0012448	HP:0002188	Delayed CNS myelination	1	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0012448	HP:0002188	Delayed CNS myelination	1	CLCN3 CL E G H	1182	2021	OMIM:619517	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA		2
HP:0012448	HP:0002188	Delayed CNS myelination	1	CLCN7 CL E G H	1186	2025	OMIM:618541	Hypopigmentation, organomegaly, and delayed myelination and development		102
HP:0012448	HP:0002188	Delayed CNS myelination	1	CLPB CL E G H	81570	30664	OMIM:619835	3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA; MGCA7A		38
HP:0012448	HP:0002188	Delayed CNS myelination	1	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56		1
HP:0012448	HP:0002188	Delayed CNS myelination	1	CLTCL1 CL E G H	8218	2093	ORPHA:453510	Congenital insensitivity to pain with severe intellectual disability	HP:0040282 - Frequent	6
HP:0012448	HP:0002188	Delayed CNS myelination	1	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0012448	HP:0002188	Delayed CNS myelination	1	COPB2 CL E G H	9276	2232	OMIM:619884
HP:0012448	HP:0002188	Delayed CNS myelination	1	COPB2 CL E G H	9276	2232	OMIM:617800	Microcephaly 19, primary, autosomal recessive
HP:0012448	HP:0002188	Delayed CNS myelination	1	CTNNB1 CL E G H	1499	2514	ORPHA:404473	Severe intellectual disability-progressive spastic diplegia syndrome	HP:0040283 - Occasional	88
HP:0012448	HP:0002188	Delayed CNS myelination	1	CUL3 CL E G H	8452	2553	OMIM:619239	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS		92
HP:0012448	HP:0002188	Delayed CNS myelination	1	D2HGDH CL E G H	728294	28358	OMIM:600721	D-2-Hydroxyglutaric aciduria 1	.	102
HP:0012448	HP:0002188	Delayed CNS myelination	1	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0012448	HP:0002188	Delayed 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:0012448	HP:0002188	Delayed CNS myelination	1	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1		94
HP:0012448	HP:0002188	Delayed CNS myelination	1	DOHH CL E G H	83475	28662	OMIM:620066
HP:0012448	HP:0002188	Delayed CNS myelination	1	EIF2AK2 CL E G H	5610	9437	OMIM:618877	LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0012448	HP:0002188	Delayed CNS myelination	1	EXOC8 CL E G H	149371	24659	OMIM:619076	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY; NEDMISB		1
HP:0012448	HP:0002188	Delayed CNS myelination	1	EXOSC1 CL E G H	51013	17286	OMIM:619304	PONTOCEREBELLAR HYPOPLASIA, TYPE 1F; PCH1F
HP:0012448	HP:0002188	Delayed CNS myelination	1	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome		81
HP:0012448	HP:0002188	Delayed CNS myelination	1	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB		58
HP:0012448	HP:0002188	Delayed CNS myelination	1	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L		53
HP:0012448	HP:0002188	Delayed CNS myelination	1	FAR1 CL E G H	84188	26222	OMIM:616154	PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD		7
HP:0012448	HP:0002188	Delayed CNS myelination	1	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0012448	HP:0002188	Delayed CNS myelination	1	FCSK CL E G H	197258	29500	OMIM:618324	Congenital disorder of glycosylation with defective fucosylation 2
HP:0012448	HP:0002188	Delayed CNS myelination	1	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0012448	HP:0002188	Delayed 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:0012448	HP:0002188	Delayed CNS myelination	1	FRMD5 CL E G H	84978	28214	OMIM:620094
HP:0012448	HP:0002188	Delayed CNS myelination	1	FRMPD4 CL E G H	9758	29007	OMIM:300983	MENTAL RETARDATION, X-LINKED 104; MRX104		32
HP:0012448	HP:0002188	Delayed CNS myelination	1	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities		1
HP:0012448	HP:0002188	Delayed CNS myelination	1	GLS CL E G H	2744	4331	OMIM:618339	Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development
HP:0012448	HP:0002188	Delayed CNS myelination	1	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA		6
HP:0012448	HP:0002188	Delayed CNS myelination	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0012448	HP:0002188	Delayed 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:0012448	HP:0002188	Delayed CNS myelination	1	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive		3
HP:0012448	HP:0002188	Delayed CNS myelination	1	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0012448	HP:0011401	Delayed peripheral myelination	1	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome	HP:0040283 - Occasional	10
HP:0012448	HP:0002188	Delayed CNS myelination	1	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0012448	HP:0002188	Delayed CNS myelination	1	ITPA CL E G H	3704	6176	OMIM:616647	Epileptic encephalopathy, early infantile, 35		8
HP:0012448	HP:0002188	Delayed CNS myelination	1	KCNC2 CL E G H	3747	6234	OMIM:619913
HP:0012448	HP:0002188	Delayed CNS myelination	1	KCNN2 CL E G H	3781	6291	OMIM:619725	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0012448	HP:0002188	Delayed CNS myelination	1	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features		3
HP:0012448	HP:0002188	Delayed CNS myelination	1	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO		4
HP:0012448	HP:0002188	Delayed CNS myelination	1	LIPT1 CL E G H	51601	29569	OMIM:616299	Lipoyltransferase 1 deficiency		21
HP:0012448	HP:0002188	Delayed CNS myelination	1	LIPT2 CL E G H	387787	37216	OMIM:617668	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities		2
HP:0012448	HP:0002188	Delayed CNS myelination	1	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040283 - Occasional	165
HP:0012448	HP:0002188	Delayed CNS myelination	1	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH		5
HP:0012448	HP:0002188	Delayed CNS myelination	1	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH		5
HP:0012448	HP:0002188	Delayed CNS myelination	1	MDH2 CL E G H	4191	6971	OMIM:617339	Epileptic encephalopathy, early infantile, 51		4
HP:0012448	HP:0002188	Delayed CNS myelination	1	MLYCD CL E G H	23417	7150	OMIM:248360	Malonyl-CoA decarboxylase deficiency		80
HP:0012448	HP:0002188	Delayed CNS myelination	1	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency	.
HP:0012448	HP:0002188	Delayed CNS myelination	1	MORC2 CL E G H	22880	23573	OMIM:619090	DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY; DIGFAN		8
HP:0012448	HP:0002188	Delayed 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:0012448	HP:0002188	Delayed CNS myelination	1	NARS1 CL E G H	4677	7643	OMIM:619091	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG
HP:0012448	HP:0002188	Delayed CNS myelination	1	NCDN CL E G H	23154	17597	OMIM:619373	NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS; NEDIES
HP:0012448	HP:0002188	Delayed CNS myelination	1	NEUROD2 CL E G H	4761	7763	OMIM:618374	Epileptic encephalopathy, early infantile, 72
HP:0012448	HP:0002188	Delayed CNS myelination	1	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0012448	HP:0002188	Delayed 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:0012448	HP:0002188	Delayed CNS myelination	1	NRCAM CL E G H	4897	7994	OMIM:619833			2
HP:0012448	HP:0002188	Delayed CNS myelination	1	NRROS CL E G H	375387	24613	OMIM:618875	SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS; SENEBAC		1
HP:0012448	HP:0002188	Delayed CNS myelination	1	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF		4
HP:0012448	HP:0002188	Delayed CNS myelination	1	PEX7 CL E G H	5191	8860	OMIM:215100	Rhizomelic chondrodysplasia punctata, type 1	.	72
HP:0012448	HP:0002188	Delayed CNS myelination	1	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42		20
HP:0012448	HP:0002188	Delayed CNS myelination	1	PHACTR1 CL E G H	221692	20990	OMIM:618298	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE70		1
HP:0012448	HP:0002188	Delayed CNS myelination	1	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0012448	HP:0002188	Delayed CNS myelination	1	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0012448	HP:0002188	Delayed CNS myelination	1	PKDCC CL E G H	91461	25123	OMIM:618821	RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0012448	HP:0002188	Delayed CNS myelination	1	PLPBP CL E G H	11212	9457	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040283 - Occasional	6
HP:0012448	HP:0002188	Delayed CNS myelination	1	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome		35
HP:0012448	HP:0002188	Delayed CNS myelination	1	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040284 - Very rare	35
HP:0012448	HP:0002188	Delayed CNS myelination	1	POLR2A CL E G H	5430	9187	OMIM:618603	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0012448	HP:0002188	Delayed CNS myelination	1	POLR3B CL E G H	55703	30348	OMIM:619742	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I		67
HP:0012448	HP:0002188	Delayed CNS myelination	1	POU3F3 CL E G H	5455	9216	OMIM:618604	SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS
HP:0012448	HP:0002188	Delayed CNS myelination	1	PPIL1 CL E G H	51645	9260	OMIM:619301	PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0012448	HP:0002188	Delayed CNS myelination	1	PPP2R1A CL E G H	5518	9302	OMIM:616362	Mental retardation, autosomal dominant 36		13
HP:0012448	HP:0002188	Delayed CNS myelination	1	PPP3CA CL E G H	5530	9314	OMIM:617711	Epileptic encephalopathy, infantile or early childhood, 1		2
HP:0012448	HP:0002188	Delayed CNS myelination	1	PRUNE1 CL E G H	58497	13420	OMIM:617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies		8
HP:0012448	HP:0002188	Delayed CNS myelination	1	PURA CL E G H	5813	9701	OMIM:616158	Mental retardation, autosomal dominant 31		53
HP:0012448	HP:0002188	Delayed CNS myelination	1	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1		90
HP:0012448	HP:0002188	Delayed CNS myelination	1	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0012448	HP:0002188	Delayed 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:0012448	HP:0002188	Delayed CNS myelination	1	RNF13 CL E G H	11342	10057	OMIM:618379	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73
HP:0012448	HP:0002188	Delayed CNS myelination	1	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0012448	HP:0002188	Delayed CNS myelination	1	SETD1A CL E G H	9739	29010	OMIM:618832	EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY; EPEDD		6
HP:0012448	HP:0002188	Delayed CNS myelination	1	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome		53
HP:0012448	HP:0002188	Delayed CNS myelination	1	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0012448	HP:0002188	Delayed CNS myelination	1	SLC12A5 CL E G H	57468	13818	OMIM:616645	Epileptic encephalopathy, early infantile, 34		8
HP:0012448	HP:0002188	Delayed CNS myelination	1	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome	.	57
HP:0012448	HP:0002188	Delayed CNS myelination	1	SLC1A2 CL E G H	6506	10940	OMIM:617105	Epileptic encephalopathy, early infantile, 41		3
HP:0012448	HP:0002188	Delayed CNS myelination	1	SLC1A4 CL E G H	6509	10942	OMIM:616657	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly		4
HP:0012448	HP:0002188	Delayed CNS myelination	1	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm		27
HP:0012448	HP:0002188	Delayed CNS myelination	1	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome		2
HP:0012448	HP:0002188	Delayed CNS myelination	1	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A		164
HP:0012448	HP:0002188	Delayed CNS myelination	1	SPATA5 CL E G H	166378	18119	OMIM:616577	Epilepsy, hearing loss, and mental retardation syndrome		19
HP:0012448	HP:0002188	Delayed CNS myelination	1	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040283 - Occasional	237
HP:0012448	HP:0002188	Delayed CNS myelination	1	STXBP1 CL E G H	6812	11444	OMIM:612164	Epileptic encephalopathy, early infantile, 4		237
HP:0012448	HP:0002188	Delayed CNS myelination	1	TAF13 CL E G H	6884	11546	OMIM:617432	Mental retardation, autosomal recessive 60		2
HP:0012448	HP:0002188	Delayed CNS myelination	1	TAF2 CL E G H	6873	11536	OMIM:615599	Mental retardation, autosomal recessive 40		7
HP:0012448	HP:0002188	Delayed CNS myelination	1	TBC1D24 CL E G H	57465	29203	ORPHA:352596	Progressive myoclonic epilepsy with dystonia	HP:0040282 - Frequent	271
HP:0012448	HP:0002188	Delayed CNS myelination	1	TGFB1 CL E G H	7040	11766	OMIM:618213	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE		13
HP:0012448	HP:0002188	Delayed CNS myelination	1	TIMM22 CL E G H	29928	17317	OMIM:618851	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43; COXPD43
HP:0012448	HP:0002188	Delayed CNS myelination	1	TKFC CL E G H	26007	24552	OMIM:618805	TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0012448	HP:0002188	Delayed CNS myelination	1	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16
HP:0012448	HP:0002188	Delayed CNS myelination	1	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0012448	HP:0002188	Delayed CNS myelination	1	TMEM240 CL E G H	339453	25186	OMIM:607454	Spinocerebellar ataxia 21		9
HP:0012448	HP:0002188	Delayed CNS myelination	1	TMEM63A CL E G H	9725	29118	OMIM:618688	LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0012448	HP:0002188	Delayed CNS myelination	1	TNPO2 CL E G H	30000	19998	OMIM:619556	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0012448	HP:0002188	Delayed CNS myelination	1	TNR CL E G H	7143	11953	OMIM:619653	NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO		7
HP:0012448	HP:0002188	Delayed CNS myelination	1	TRAPPC2L CL E G H	51693	30887	OMIM:618331	Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis
HP:0012448	HP:0002188	Delayed CNS myelination	1	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS		1
HP:0012448	HP:0002188	Delayed CNS myelination	1	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26		4
HP:0012448	HP:0002188	Delayed 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:0012448	HP:0002188	Delayed CNS myelination	1	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism		2
HP:0012448	HP:0002188	Delayed CNS myelination	1	TXN2 CL E G H	25828	17772	OMIM:616811	Combined oxidative phosphorylation deficiency 29		1
HP:0012448	HP:0002188	Delayed CNS myelination	1	UGDH CL E G H	7358	12525	OMIM:618792	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0012448	HP:0002188	Delayed CNS myelination	1	UPB1 CL E G H	51733	16297	OMIM:613161	Beta-Ureidopropionase deficiency	.	44
HP:0012448	HP:0002188	Delayed CNS myelination	1	VPS11 CL E G H	55823	14583	ORPHA:466934	VPS11-related autosomal recessive hypomyelinating leukodystrophy	HP:0040282 - Frequent	1
HP:0012448	HP:0002188	Delayed CNS myelination	1	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome		1
HP:0012448	HP:0002188	Delayed 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:0012448	HP:0002188	Delayed CNS myelination	1	YRDC CL E G H	79693	28905	OMIM:619609	GALLOWAY-MOWAT SYNDROME 10; GAMOS10
HP:0012448	HP:0002188	Delayed CNS myelination	1	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome		7
HP:0012448	HP:0002188	Delayed CNS myelination	1	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR		19
HP:0012448	HP:0002188	Delayed CNS myelination	1	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0012448	HP:0002188	Delayed 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:0012448	HP:0002188	Delayed CNS myelination	1	ZNF335 CL E G H	63925	15807	OMIM:615095	Microcephaly 10, primary, autosomal recessive		60
HP:0012448	HP:0002188	Delayed CNS myelination	1	ZNF526 CL E G H	116115	29415	OMIM:619877			24

Genes (247) :AARS1 ACTL6B ACY1 ADAMTSL1 ADARB1 ADAT3 AHCY AHDC1 AIFM1 ALDH5A1 ALDH6A1 ALDH7A1 ALG11 ALG12 ALG13 ALG14 ALG2 ALG9 AP3D1 ARF1 ARID1B ARNT2 ARX ASH1L ASNS ASXL1 ATP1A3 ATP6AP2 BCS1L BMP4 BRAT1 C18ORF32 CARS1 CASK CDC40 CDK19 CDKL5 CHAMP1 CLCN3 CLCN4 CLCN7 CLP1 CLPB CLTC CLTCL1 CNOT3 COG5 COG7 COPB2 COX7B CREBBP CTNNB1 CUL3 CYB5A CYB5R3 D2HGDH DCX DDX6 DHFR DHX30 DHX37 DMXL2 DNM1L DOHH DPM1 EIF2AK2 ELOVL4 EP300 ERCC6 EXOC8 EXOSC1 EXOSC2 EZH2 FANCB FANCL FAR1 FBXL4 FBXO28 FCSK FDXR FLCN FOCAD FOXG1 FOXP1 FOXRED1 FRMD5 FRMPD4 GATAD2B GCDH GEMIN4 GFM1 GLS GLYCTK GMNN GNAO1 GNB1 GNB2 GRIK2 GRIN1 GRM7 GTF2H5 H4C5 HACE1 HIKESHI HNRNPU HS2ST1 IDH1 IER3IP1 IFIH1 IREB2 ISCA1 ITPA KCNA1 KCNC2 KCNN2 KCNT1 KDM1A KIDINS220 KIF5A KMT2E LIPT1 LIPT2 LMX1B MADD MAN2B1 MAPK8IP3 MDH2 MLYCD MMUT MORC2 MRPS22 MTHFS MTRR NACC1 NARS1 NCDN NEUROD2 NGLY1 NMNAT1 NR2F1 NRCAM NRROS NTRK2 NUP188 OCA2 PAK1 PEX7 PGAP1 PHACTR1 PHGDH PIGA PIGN PIGP PIGQ PIGS PIGU PIGV PKDCC PLAA PLPBP PMM2 PNKP PNPT1 POGZ POLR2A POLR3B POU3F3 PPIL1 PPP1R15B PPP2CA PPP2R1A PPP3CA PRMT7 PRPS1 PRUNE1 PSAT1 PURA RAB11B RAB3GAP1 RBM8A RERE RHOBTB2 RMND1 RNASEH2C RNF13 RNU7-1 SATB2 SCN1B SCN2A SEPSECS SETD1A SHANK3 SIK1 SIN3A SLC12A5 SLC13A5 SLC16A2 SLC1A2 SLC1A4 SLC25A1 SLC25A22 SLC2A1 SLC35A2 SLC6A8 SMG9 SMPD1 SPATA5 SPTBN1 STAMBP STXBP1 SYT1 TAF13 TAF2 TBC1D24 TBCE TGFB1 TIMM22 TKFC TMEM106B TMEM147 TMEM240 TMEM63A TNPO2 TNR TRAPPC2L TRIM8 TRMT10A TRMT5 TRNT1 TRRAP TXN2 UBA5 UBE3A UFC1 UGDH UPB1 VPS11 VPS33A WARS2 WWOX YRDC YY1 ZC4H2 ZMIZ1 ZNF148 ZNF335 ZNF526

Diseases (264) :OMIM:619691 OMIM:618468 OMIM:609924 ORPHA:521445 OMIM:618862 ORPHA:363528 OMIM:615286 ORPHA:88618 ORPHA:412069 OMIM:615829 OMIM:300232 OMIM:271980 OMIM:614105 ORPHA:3006 ORPHA:280071 ORPHA:79324 OMIM:300884 OMIM:619031 OMIM:619036 OMIM:607906 ORPHA:79328 OMIM:608776 OMIM:617050 OMIM:618185 OMIM:135900 OMIM:615926 OMIM:308350 ORPHA:1934 OMIM:617796 OMIM:615574 ORPHA:97297 OMIM:605039 OMIM:619606 OMIM:300423 OMIM:124000 OMIM:607932 OMIM:614498 OMIM:619985 OMIM:618891 OMIM:619302 OMIM:618916 OMIM:616579 OMIM:619512 OMIM:619517 ORPHA:485350 OMIM:618541 OMIM:615803 OMIM:619835 OMIM:617854 ORPHA:453510 OMIM:618672 ORPHA:263487 OMIM:608779 OMIM:619884 OMIM:617800 OMIM:300887 ORPHA:353277 ORPHA:404473 OMIM:619239 ORPHA:621 OMIM:600721 ORPHA:2148 OMIM:618653 OMIM:613839 OMIM:617804 OMIM:618731 OMIM:614388 OMIM:620066 ORPHA:79322 OMIM:618877 OMIM:614457 ORPHA:353284 OMIM:214150 OMIM:619076 OMIM:619304 OMIM:617763 OMIM:277590 OMIM:300514 OMIM:614083 OMIM:616154 OMIM:615471 OMIM:619777 OMIM:618324 ORPHA:543470 OMIM:610883 OMIM:619991 OMIM:613454 OMIM:613670 OMIM:618241 OMIM:620094 OMIM:300983 ORPHA:363686 OMIM:231670 OMIM:617913 OMIM:609060 OMIM:618339 OMIM:220120 OMIM:616835 OMIM:615473 ORPHA:488613 OMIM:616973 OMIM:619503 OMIM:619580 OMIM:616395 OMIM:619950 OMIM:616756 ORPHA:464282 OMIM:616881 OMIM:617391 OMIM:619194 ORPHA:99646 OMIM:614231 OMIM:615846 OMIM:618451 OMIM:617613 OMIM:616647 OMIM:619913 OMIM:619725 OMIM:614959 OMIM:616728 ORPHA:477993 OMIM:617296 OMIM:617235 OMIM:618512 OMIM:616299 OMIM:617668 ORPHA:495818 OMIM:619004 OMIM:619005 OMIM:248500 OMIM:618443 OMIM:617339 OMIM:248360 OMIM:251000 OMIM:619090 OMIM:611719 OMIM:618367 ORPHA:2169 OMIM:617393 ORPHA:500545 OMIM:619091 OMIM:619373 OMIM:618374 ORPHA:404454 OMIM:615273 OMIM:619260 ORPHA:401777 OMIM:619833 OMIM:618875 OMIM:617830 OMIM:613886 OMIM:618804 ORPHA:98794 OMIM:618158 OMIM:215100 OMIM:615802 OMIM:618298 ORPHA:79351 OMIM:300868 ORPHA:280633 OMIM:618143 OMIM:618590 OMIM:239300 OMIM:618821 OMIM:617527 ORPHA:521426 ORPHA:79318 ORPHA:319514 ORPHA:468678 OMIM:616364 OMIM:618603 OMIM:619742 OMIM:618604 OMIM:619301 OMIM:616817 ORPHA:391408 OMIM:618354 OMIM:616362 ORPHA:457284 OMIM:617711 OMIM:617157 ORPHA:423479 OMIM:617481 ORPHA:544469 ORPHA:284417 OMIM:616158 ORPHA:314655 OMIM:617807 OMIM:600118 OMIM:274000 OMIM:616975 OMIM:618004 OMIM:614922 OMIM:610329 OMIM:618379 ORPHA:544503 OMIM:619487 ORPHA:576283 OMIM:613811 OMIM:618832 OMIM:606232 OMIM:613406 OMIM:616645 OMIM:615905 ORPHA:59 OMIM:300523 OMIM:617105 OMIM:616657 OMIM:615182 OMIM:609304 ORPHA:168577 OMIM:608885 OMIM:300896 ORPHA:356961 OMIM:300352 OMIM:616920 OMIM:257200 OMIM:616577 OMIM:619475 OMIM:614261 OMIM:612164 ORPHA:522077 OMIM:617432 OMIM:615599 ORPHA:397951 OMIM:615338 ORPHA:352596 OMIM:241410 OMIM:618213 OMIM:618851 OMIM:618805 OMIM:617964 OMIM:620075 OMIM:607454 OMIM:618688 OMIM:619556 OMIM:619653 OMIM:618331 OMIM:619428 OMIM:616539 OMIM:616084 OMIM:618454 ORPHA:478029 OMIM:616811 OMIM:617132 OMIM:618076 OMIM:618792 OMIM:613161 OMIM:616683 ORPHA:466934 ORPHA:505248 OMIM:617303 OMIM:617710 ORPHA:572798 OMIM:616211 OMIM:619609 OMIM:617557 ORPHA:506358 OMIM:314580 OMIM:301041 OMIM:618659 OMIM:617260 OMIM:615095 OMIM:619877

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

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