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:
Clinical course (HP:0031797)

Parent Node:
Onset (HP:0003674)

..Starting node
..Infantile onset (HP:0003593)

Term ID:

3593

Name:

Infantile onset

Synonym:

Infantile onset; Onset in first year of life; Onset in infancy

Definition:

Onset of signs or symptoms of disease between 28 days to one year of life.

Comments:

Reference:

HP:0003593

Genes and Diseases:

Child Nodes:

Sister Nodes:

Adult onset (HP:0003581)

Antenatal onset (HP:0030674)

Childhood onset (HP:0011463)

Congenital onset (HP:0003577)

Juvenile onset (HP:0003621)

Neonatal onset (HP:0003623)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0003593	HP:0003593	Infantile onset	0	AASS CL E G H	10157	238700	Hyperlysinemia	238700	C0268553	OMIM	1	182	17366	605113
HP:0003593	HP:0003593	Infantile onset	0	ABCB11 CL E G H	8647	601847	Progressive familial intrahepatic cholestasis 2	601847	C3489789	OMIM	1	1145	42	603201
HP:0003593	HP:0003593	Infantile onset	0	ABCB4 CL E G H	5244	602347	Progressive familial intrahepatic cholestasis 3	602347	C1865643	OMIM	1	539	45	171060
HP:0003593	HP:0003593	Infantile onset	0	ABCD3 CL E G H	5825	616278	Bile acid synthesis defect, congenital, 5	616278	C4225390	OMIM	1	91	67	170995
HP:0003593	HP:0003593	Infantile onset	0	ACADSB CL E G H	36	610006	Deficiency of 2-methylbutyryl-CoA dehydrogenase	610006	C1864912	OMIM	1	337	91	600301
HP:0003593	HP:0003593	Infantile onset	0	ACO2 CL E G H	50	614559	Infantile cerebellar-retinal degeneration	614559	C3281192	OMIM	1	681	118	100850
HP:0003593	HP:0003593	Infantile onset	0	ACOX1 CL E G H	51	264470	Pseudoneonatal adrenoleukodystrophy	264470	C1849678	OMIM	1	665	119	609751
HP:0003593	HP:0003593	Infantile onset	0	ACOX2 CL E G H	8309	617308	Bile acid synthesis defect, congenital, 6	617308	C4310624	OMIM	1	153	120	601641
HP:0003593	HP:0003593	Infantile onset	0	ADAM22 CL E G H	53616	617933	Early infantile epileptic encephalopathy 61	617933	CN244550	OMIM	1	89	201	603709
HP:0003593	HP:0003593	Infantile onset	0	ADAR CL E G H	103	127400	Symmetrical dyschromatosis of extremities	127400	C0406775	OMIM	1	1122	225	146920
HP:0003593	HP:0003593	Infantile onset	0	ADAT3 CL E G H	113179	615286	Mental retardation, autosomal recessive 36	615286	C3809039	OMIM	1	127	25151	615302
HP:0003593	HP:0003593	Infantile onset	0	ADD3 CL E G H	120	617008	Cerebral palsy, spastic quadriplegic, 3	617008	C4310767	OMIM	1	179	245	601568
HP:0003593	HP:0003593	Infantile onset	0	ADGRV1 CL E G H	84059	604352	Febrile seizures, familial, 4	604352	C1858493	OMIM	1	4561	17416	602851
HP:0003593	HP:0003593	Infantile onset	0	ADK CL E G H	132	614300	Hypermethioninemia due to adenosine kinase deficiency	614300	C3280381	OMIM	1	137	257	102750
HP:0003593	HP:0003593	Infantile onset	0	ADNP CL E G H	23394	615873	Helsmoortel-van der aa syndrome	615873	C4014538	OMIM	1	553	15766	611386
HP:0003593	HP:0003593	Infantile onset	0	ADSL CL E G H	158	103050	Adenylosuccinate lyase deficiency	103050	C0268126	OMIM	1	808	291	608222
HP:0003593	HP:0003593	Infantile onset	0	AFG3L2 CL E G H	10939	614487	Spastic ataxia 5, autosomal recessive	614487	C3280977	OMIM	1	480	315	604581
HP:0003593	HP:0003593	Infantile onset	0	AGK CL E G H	55750	212350	Cataract and cardiomyopathy	212350	C1859317	OMIM	1	347	21869	610345
HP:0003593	HP:0003593	Infantile onset	0	AIFM1 CL E G H	9131	300816	Combined oxidative phosphorylation deficiency 6	300816	C3151753	OMIM	1	575	8768	300169
HP:0003593	HP:0003593	Infantile onset	0	AIMP2 CL E G H	7965	618006	LEUKODYSTROPHY, HYPOMYELINATING, 17	618006	CN248514	OMIM	1	191	20609	600859
HP:0003593	HP:0003593	Infantile onset	0	AKT1 CL E G H	207	176920	Proteus syndrome	176920	C0085261	OMIM	1	758	391	164730
HP:0003593	HP:0003593	Infantile onset	0	ALDH5A1 CL E G H	7915	271980	Succinate-semialdehyde dehydrogenase deficiency	271980	C0268631	OMIM	1	763	408	610045
HP:0003593	HP:0003593	Infantile onset	0	ALG11 CL E G H	440138	613661	Congenital disorder of glycosylation type 1P	613661	C3150913	OMIM	1	244	32456	613666
HP:0003593	HP:0003593	Infantile onset	0	ALG13 CL E G H	79868	300884	Epileptic encephalopathy, early infantile, 36	300884	C3550904	OMIM	1	950	30881	300776
HP:0003593	HP:0003593	Infantile onset	0	ALS2 CL E G H	57679	607225	Infantile-onset ascending hereditary spastic paralysis	607225	C2931441	OMIM	1	947	443	606352
HP:0003593	HP:0003593	Infantile onset	0	AMMECR1 CL E G H	9949	300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis	300990	C4310810	OMIM	1	218	467	300195
HP:0003593	HP:0003593	Infantile onset	0	AP1S2 CL E G H	8905	304340	Pettigrew syndrome	304340	C0796254	OMIM	1	241	560	300629
HP:0003593	HP:0003593	Infantile onset	0	AP3D1 CL E G H	8943	617050	Hermansky-Pudlak syndrome 10	617050	C4310746	OMIM	1	893	568	607246
HP:0003593	HP:0003593	Infantile onset	0	ARFGEF2 CL E G H	10564	608097	Heterotopia, periventricular, autosomal recessive	608097	C1842563	OMIM	1	641	15853	605371
HP:0003593	HP:0003593	Infantile onset	0	ARV1 CL E G H	64801	617020	Epileptic encephalopathy, early infantile, 38	617020	C4310762	OMIM	1	89	29561	611647
HP:0003593	HP:0003593	Infantile onset	0	ASH1L CL E G H	55870	617796	MENTAL RETARDATION, AUTOSOMAL DOMINANT 52	617796	C4540478	OMIM	1	449	19088	607999
HP:0003593	HP:0003593	Infantile onset	0	ASXL2 CL E G H	55252	617190	Shashi-Pena syndrome	617190	C4310672	OMIM	1	408	23805	612991
HP:0003593	HP:0003593	Infantile onset	0	ATAD3A CL E G H	55210	617183	Harel-Yoon syndrome	617183	C4310677	OMIM	1	399	25567	612316
HP:0003593	HP:0003593	Infantile onset	0	ATP6AP2 CL E G H	10159	300423	Mental retardation, X-linked, syndromic, Hedera type	300423	C1845543	OMIM	1	340	18305	300556
HP:0003593	HP:0003593	Infantile onset	0	ATP8B1 CL E G H	5205	211600	Progressive intrahepatic cholestasis	211600	C0268312	OMIM	1	571	3706	602397
HP:0003593	HP:0003593	Infantile onset	0	ATPAF2 CL E G H	91647	604273	Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1	604273	C2700431	OMIM	1	281	18802	608918
HP:0003593	HP:0003593	Infantile onset	0	AUH CL E G H	549	250950	3-Methylglutaconic aciduria type 1	250950	C0342727	OMIM	1	249	890	600529
HP:0003593	HP:0003593	Infantile onset	0	BCL10 CL E G H	8915	616098	Immunodeficiency 37	616098	C4015195	OMIM	1	116	989	603517
HP:0003593	HP:0003593	Infantile onset	0	BCS1L CL E G H	617	256000	Leigh syndrome	256000	C0023264	OMIM	1	413	1020	603647
HP:0003593	HP:0003593	Infantile onset	0	BCS1L CL E G H	617	124000	Mitochondrial complex III deficiency	124000	C1852372	OMIM	1	413	1020	603647
HP:0003593	HP:0003593	Infantile onset	0	BLNK CL E G H	29760	613502	Agammaglobulinemia 4, autosomal recessive	613502	C3150752	OMIM	1	296	14211	604515
HP:0003593	HP:0003593	Infantile onset	0	BOLA3 CL E G H	388962	614299	Multiple mitochondrial dysfunctions syndrome 2	614299	C3280378	OMIM	1	102	24415	613183
HP:0003593	HP:0003593	Infantile onset	0	BRF1 CL E G H	2972	616202	Cerebellofaciodental syndrome	616202	C4015495	OMIM	1	282	11551	604902
HP:0003593	HP:0003593	Infantile onset	0	C12orf57 CL E G H	113246	218340	Temtamy syndrome	218340	C1857512	OMIM	1	289	29521	615140
HP:0003593	HP:0003593	Infantile onset	0	CA12 CL E G H	771	143860	Hyperchlorhidrosis, isolated	143860	C1840437	OMIM	1	75	1371	603263
HP:0003593	HP:0003593	Infantile onset	0	CAD CL E G H	790	616457	Epileptic encephalopathy, early infantile, 50	616457	C4225320	OMIM	1	1320	1424	114010
HP:0003593	HP:0003593	Infantile onset	0	CARD11 CL E G H	84433	615206	Immunodeficiency 11	615206	C3554686	OMIM	1	857	16393	607210
HP:0003593	HP:0003593	Infantile onset	0	CAVIN1 CL E G H	284119	613327	Lipodystrophy, congenital generalized, type 4	613327	C2750069	OMIM	1	128	9688	603198
HP:0003593	HP:0003593	Infantile onset	0	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1525	29253	612013
HP:0003593	HP:0003593	Infantile onset	0	CCDC115 CL E G H	84317	616828	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo	616828	C4225191	OMIM	1	87	28178	613734
HP:0003593	HP:0003593	Infantile onset	0	CCT5 CL E G H	22948	256840	Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive	256840	C1850395	OMIM	1	361	1618	610150
HP:0003593	HP:0003593	Infantile onset	0	CD247 CL E G H	919	610163	Immunodeficiency due to defect in cd3-zeta	610163	C1857798	OMIM	1	180	1677	186780
HP:0003593	HP:0003593	Infantile onset	0	CD3D CL E G H	915	615617	Immunodeficiency 19	615617	C3810147	OMIM	1	172	1673	186790
HP:0003593	HP:0003593	Infantile onset	0	CD3E CL E G H	916	615615	Immunodeficiency 18	615615	C3810127	OMIM	1	199	1674	186830
HP:0003593	HP:0003593	Infantile onset	0	CD59 CL E G H	966	612300	CD59-mediated hemolytic anemia with or without immune-mediated polyneuropathy	612300	C2676767	OMIM	1	82	1689	107271
HP:0003593	HP:0003593	Infantile onset	0	CD79B CL E G H	974	612692	Agammaglobulinemia 6, autosomal recessive	612692	C3150207	OMIM	1	161	1699	147245
HP:0003593	HP:0003593	Infantile onset	0	CDKL5 CL E G H	6792	300672	Early infantile epileptic encephalopathy 2	300672	C1839333	OMIM	1	1738	11411	300203
HP:0003593	HP:0003593	Infantile onset	0	CEP104 CL E G H	9731	616781	Joubert syndrome 25	616781	C4084842	OMIM	1	506	24866	616690
HP:0003593	HP:0003593	Infantile onset	0	CHD1 CL E G H	1105	617682	PILAROWSKI-BJORNSSON SYNDROME	617682	C4540131	OMIM	1	217	1915	602118
HP:0003593	HP:0003593	Infantile onset	0	CHD3 CL E G H	1107	618205	SNIJDERS BLOK-CAMPEAU SYNDROME	618205		OMIM	1	378	1918	602120
HP:0003593	HP:0003593	Infantile onset	0	CHRNA1 CL E G H	1134	608930	Congenital myasthenic syndrome 1B, fast-channel	608930	C1837122	OMIM	1	468	1955	100690
HP:0003593	HP:0003593	Infantile onset	0	CHRND CL E G H	1144	616321	Myasthenic syndrome, congenital, 3a, slow-channel	616321	C4225372	OMIM	1	505	1965	100720
HP:0003593	HP:0003593	Infantile onset	0	CHRND CL E G H	1144	616322	Myasthenic syndrome, congenital, 3b, fast-channel	616322	C4225371	OMIM	1	505	1965	100720
HP:0003593	HP:0003593	Infantile onset	0	CHRNE CL E G H	1145	616324	Myasthenic syndrome, congenital, 4b, fast-channel	616324	C4225369	OMIM	1	1011	1966	100725
HP:0003593	HP:0003593	Infantile onset	0	CHRNE CL E G H	1145	608931	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	608931	C1837091	OMIM	1	1011	1966	100725
HP:0003593	HP:0003593	Infantile onset	0	CLIC5 CL E G H	53405	616042	Deafness, autosomal recessive 103	616042	C4015050	OMIM	1	129	13517	607293
HP:0003593	HP:0003593	Infantile onset	0	CLPX CL E G H	10845	618015	PROTOPORPHYRIA, ERYTHROPOIETIC, 2	618015	CN248523	OMIM	1	78	2088	615611
HP:0003593	HP:0003593	Infantile onset	0	COG2 CL E G H	22796	617395	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq	617395	C4479353	OMIM	1	228	6546	606974
HP:0003593	HP:0003593	Infantile onset	0	COL6A1 CL E G H	1291	254090	Ullrich congenital muscular dystrophy 1	254090	CN033863	OMIM	1	1718	2211	120220
HP:0003593	HP:0003593	Infantile onset	0	COL6A2 CL E G H	1292	254090	Ullrich congenital muscular dystrophy 1	254090	CN033863	OMIM	1	1928	2212	120240
HP:0003593	HP:0003593	Infantile onset	0	COL6A3 CL E G H	1293	254090	Ullrich congenital muscular dystrophy 1	254090	CN033863	OMIM	1	3001	2213	120250
HP:0003593	HP:0003593	Infantile onset	0	COLQ CL E G H	8292	603034	Endplate acetylcholinesterase deficiency	603034	C1864233	OMIM	1	542	2226	603033
HP:0003593	HP:0003593	Infantile onset	0	COQ6 CL E G H	51004	614650	Coenzyme Q10 deficiency, primary, 6	614650	C3553349	OMIM	1	273	20233	614647
HP:0003593	HP:0003593	Infantile onset	0	CORO1A CL E G H	11151	615401	Immunodeficiency 8	615401	C3809383	OMIM	1	423	2252	605000
HP:0003593	HP:0003593	Infantile onset	0	COX10 CL E G H	1352	256000	Leigh syndrome	256000	C0023264	OMIM	1	356	2260	602125
HP:0003593	HP:0003593	Infantile onset	0	COX15 CL E G H	1355	256000	Leigh syndrome	256000	C0023264	OMIM	1	357	2263	603646
HP:0003593	HP:0003593	Infantile onset	0	COX4I2 CL E G H	84701	612714	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis	612714	C2675184	OMIM	1	73	16232	607976
HP:0003593	HP:0003593	Infantile onset	0	CPT2 CL E G H	1376	600649	Carnitine palmitoyltransferase II deficiency, infantile	600649	C1833511	OMIM	1	876	2330	600650
HP:0003593	HP:0003593	Infantile onset	0	CTC1 CL E G H	80169	612199	Cerebroretinal microangiopathy with calcifications and cysts 1	612199	C2677299	OMIM	1	1292	26169	613129
HP:0003593	HP:0003593	Infantile onset	0	CTDP1 CL E G H	9150	604168	Congenital Cataracts, Facial Dysmorphism, and Neuropathy	604168	C1858726	OMIM	1	637	2498	604927
HP:0003593	HP:0003593	Infantile onset	0	CTNNB1 CL E G H	1499	615075	Mental retardation, autosomal dominant 19	615075	C3554449	OMIM	1	624	2514	116806
HP:0003593	HP:0003593	Infantile onset	0	CUX2 CL E G H	23316	618141	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67	618141		OMIM	1	227	19347	610648
HP:0003593	HP:0003593	Infantile onset	0	CWF19L1 CL E G H	55280	616127	Spinocerebellar ataxia, autosomal recessive 17	616127	C4015301	OMIM	1	100	25613	616120
HP:0003593	HP:0003593	Infantile onset	0	CXCR4 CL E G H	7852	193670	Warts, hypogammaglobulinemia, infections, and myelokathexis	193670	C0472817	OMIM	1	154	2561	162643
HP:0003593	HP:0003593	Infantile onset	0	CYB5A CL E G H	1528	250790	Methemoglobinemia type 4	250790	C2673427	OMIM	1	167	2570	613218
HP:0003593	HP:0003593	Infantile onset	0	CYP2R1 CL E G H	120227	600081	Vitamin d hydroxylation-deficient rickets, type 1b	600081	C1838657	OMIM	1	146	20580	608713
HP:0003593	HP:0003593	Infantile onset	0	DAG1 CL E G H	1605	616538	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9	616538	C4225291	OMIM	1	630	2666	128239
HP:0003593	HP:0003593	Infantile onset	0	DARS CL E G H	1615	615281	Hypomyelination with brainstem and spinal cord involvement and leg spasticity	615281	C3809008	OMIM	1		2678	603084
HP:0003593	HP:0003593	Infantile onset	0	DCDC2 CL E G H	51473	617394	Sclerosing cholangitis, neonatal	617394	C4479344	OMIM	1	261	18141	605755
HP:0003593	HP:0003593	Infantile onset	0	DCX CL E G H	1641	300067	Lissencephaly, X-linked	300067	C1848199	OMIM	1	423	2714	300121
HP:0003593	HP:0003593	Infantile onset	0	DDC CL E G H	1644	608643	Deficiency of aromatic-L-amino-acid decarboxylase	608643	C1291564	OMIM	1	503	2719	107930
HP:0003593	HP:0003593	Infantile onset	0	DDOST CL E G H	1650	614507	Congenital disorder of glycosylation type Ir	614507	C3281084	OMIM	1	253	2728	602202
HP:0003593	HP:0003593	Infantile onset	0	DDX3X CL E G H	1654	300958	Mental retardation, X-linked 102	300958	C4085582	OMIM	1	745	2745	300160
HP:0003593	HP:0003593	Infantile onset	0	DEAF1 CL E G H	10522	617171	Dyskinesia, seizures, and intellectual developmental disorder	617171	C4310683	OMIM	1	695	14677	602635
HP:0003593	HP:0003593	Infantile onset	0	DHX30 CL E G H	22907	617804	NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE	617804	C4540496	OMIM	1	162	16716	616423
HP:0003593	HP:0003593	Infantile onset	0	DLAT CL E G H	1737	245348	Pyruvate dehydrogenase E2 deficiency	245348	C1855565	OMIM	1	303	2896	608770
HP:0003593	HP:0003593	Infantile onset	0	DNAAF4 CL E G H	161582	615482	Primary ciliary dyskinesia 25	615482	C3809641	OMIM	1	254	21493	608706
HP:0003593	HP:0003593	Infantile onset	0	DNAAF5 CL E G H	54919	614874	Ciliary dyskinesia, primary, 18	614874	C3543825	OMIM	1	637	26013	614864
HP:0003593	HP:0003593	Infantile onset	0	DOCK7 CL E G H	85440	615859	Epileptic encephalopathy, early infantile, 23	615859	C4014492	OMIM	1	1510	19190	615730
HP:0003593	HP:0003593	Infantile onset	0	DOCK8 CL E G H	81704	243700	Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive	243700	C1968689	OMIM	1	2688	19191	611432
HP:0003593	HP:0003593	Infantile onset	0	DPM1 CL E G H	8813	608799	Congenital disorder of glycosylation type 1E	608799	C1837396	OMIM	1	255	3005	603503
HP:0003593	HP:0003593	Infantile onset	0	EARS2 CL E G H	124454	614924	Combined oxidative phosphorylation deficiency 12	614924	C3554079	OMIM	1	336	29419	612799
HP:0003593	HP:0003593	Infantile onset	0	EBF3 CL E G H	253738	617330	Hypotonia, ataxia, and delayed development syndrome	617330	C4310618	OMIM	1	288	19087	607407
HP:0003593	HP:0003593	Infantile onset	0	EDC3 CL E G H	80153	616460	Mental retardation, autosomal recessive 50	616460	C4225319	OMIM	1	67	26114	609842
HP:0003593	HP:0003593	Infantile onset	0	EEF1A2 CL E G H	1917	616409	Epileptic encephalopathy, early infantile, 33	616409	C4225337	OMIM	1	575	3192	602959
HP:0003593	HP:0003593	Infantile onset	0	EEF1A2 CL E G H	1917	616393	Mental retardation, autosomal dominant 38	616393	C4225343	OMIM	1	575	3192	602959
HP:0003593	HP:0003593	Infantile onset	0	EGR2 CL E G H	1959	145900	Dejerine-Sottas disease	145900	C0011195	OMIM	1	373	3239	129010
HP:0003593	HP:0003593	Infantile onset	0	EIF2AK3 CL E G H	9451	226980	Wolcott-Rallison dysplasia	226980	C0432217	OMIM	1	520	3255	604032
HP:0003593	HP:0003593	Infantile onset	0	ELANE CL E G H	1991	202700	Severe congenital neutropenia autosomal dominant	202700	C1859966	OMIM	1	512	3309	130130
HP:0003593	HP:0003593	Infantile onset	0	EPO CL E G H	2056	617911	DIAMOND-BLACKFAN ANEMIA-LIKE	617911	CN873436	OMIM	1	59	3415	133170
HP:0003593	HP:0003593	Infantile onset	0	ERCC4 CL E G H	2072	615272	Fanconi anemia, complementation group Q	615272	C3808988	OMIM	1	726	3436	133520
HP:0003593	HP:0003593	Infantile onset	0	ERCC6 CL E G H	2074	600630	UV-sensitive syndrome	600630	C1833561	OMIM	1	1645	3438	609413
HP:0003593	HP:0003593	Infantile onset	0	ERCC8 CL E G H	1161	614621	UV-sensitive syndrome 2	614621	C3553298	OMIM	1	484	3439	609412
HP:0003593	HP:0003593	Infantile onset	0	EXT2 CL E G H	2132	616682	Seizures, scoliosis, and macrocephaly syndrome	616682	C4225248	OMIM	1	668	3513	608210
HP:0003593	HP:0003593	Infantile onset	0	FAM126A CL E G H	84668	610532	Hypomyelination and Congenital Cataract	610532	C1864663	OMIM	1		24587	610531
HP:0003593	HP:0003593	Infantile onset	0	FERMT3 CL E G H	83706	612840	Leukocyte adhesion deficiency, type III	612840	C2748536	OMIM	1	444	23151	607901
HP:0003593	HP:0003593	Infantile onset	0	FGD4 CL E G H	121512	609311	Charcot-Marie-Tooth disease, type 4H	609311	C1836336	OMIM	1	743	19125	611104
HP:0003593	HP:0003593	Infantile onset	0	FKTN CL E G H	2218	613152	Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B4	613152	C2751052	OMIM	1	914	3622	607440
HP:0003593	HP:0003593	Infantile onset	0	FKTN CL E G H	2218	253800	Fukuyama congenital muscular dystrophy	253800	C0410174	OMIM	1	914	3622	607440
HP:0003593	HP:0003593	Infantile onset	0	FKTN CL E G H	2218	611588	Limb-girdle muscular dystrophy-dystroglycanopathy, type C4	611588	C1969040	OMIM	1	914	3622	607440
HP:0003593	HP:0003593	Infantile onset	0	FLNA CL E G H	2316	300048	Intestinal pseudoobstruction neuronal chronic idiopathic X-linked	300048	C2746068	OMIM	1	3033	3754	300017
HP:0003593	HP:0003593	Infantile onset	0	FMN2 CL E G H	56776	616193	Mental retardation, autosomal recessive 47	616193	C4015444	OMIM	1	375	14074	606373
HP:0003593	HP:0003593	Infantile onset	0	FOXRED1 CL E G H	55572	618241	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19	618241		OMIM	1	323	26927	613622
HP:0003593	HP:0003593	Infantile onset	0	FRMD7 CL E G H	90167	310700	Infantile nystagmus, X-linked	310700	C1839580	OMIM	1	527	8079	300628
HP:0003593	HP:0003593	Infantile onset	0	FRMPD4 CL E G H	9758	300983	Mental retardation, X-linked 104	300983	C4310817	OMIM	1	450	29007	300838
HP:0003593	HP:0003593	Infantile onset	0	FZD4 CL E G H	8322	133780	Exudative vitreoretinopathy 1	133780	C1851402	OMIM	1	439	4042	604579
HP:0003593	HP:0003593	Infantile onset	0	GABRB1 CL E G H	2560	617153	Epileptic encephalopathy, early infantile, 45	617153	C4310691	OMIM	1	275	4081	137190
HP:0003593	HP:0003593	Infantile onset	0	GABRB3 CL E G H	2562	617113	Epileptic encephalopathy, early infantile, 43	617113	C4310712	OMIM	1	838	4083	137192
HP:0003593	HP:0003593	Infantile onset	0	GAD1 CL E G H	2571	603513	Cerebral palsy, spastic quadriplegic, 1	603513	C2751938	OMIM	1	242	4092	605363
HP:0003593	HP:0003593	Infantile onset	0	GATA1 CL E G H	2623	300835	Anemia without thromobocytopenia, X-linked	300835	C3151785	OMIM	1	413	4170	305371
HP:0003593	HP:0003593	Infantile onset	0	GATA1 CL E G H	2623	300367	GATA-1-related thrombocytopenia with dyserythropoiesis	300367	C1845837	OMIM	1	413	4170	305371
HP:0003593	HP:0003593	Infantile onset	0	GATAD2B CL E G H	57459	615074	Mental retardation, autosomal dominant 18	615074	C3554448	OMIM	1	410	30778	614998
HP:0003593	HP:0003593	Infantile onset	0	GATM CL E G H	2628	612718	Arginine:glycine amidinotransferase deficiency	612718	C2675179	OMIM	1	443	4175	602360
HP:0003593	HP:0003593	Infantile onset	0	GCH1 CL E G H	2643	233910	GTP cyclohydrolase I deficiency	233910	C0268467	OMIM	1	428	4193	600225
HP:0003593	HP:0003593	Infantile onset	0	GDAP1 CL E G H	54332	607831	Charcot-Marie-Tooth disease type 2K	607831	C1842983	OMIM	1	537	15968	606598
HP:0003593	HP:0003593	Infantile onset	0	GDAP1 CL E G H	54332	214400	Charcot-Marie-Tooth disease, type 4A	214400	C1859198	OMIM	1	537	15968	606598
HP:0003593	HP:0003593	Infantile onset	0	GEMIN4 CL E G H	50628	617913	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES	617913	CN889218	OMIM	1	241	15717	606969
HP:0003593	HP:0003593	Infantile onset	0	GFAP CL E G H	2670	203450	Alexander's disease	203450	C0270726	OMIM	1	455	4235	137780
HP:0003593	HP:0003593	Infantile onset	0	GFI1B CL E G H	8328	187900	Platelet-type bleeding disorder 17	187900	C1861194	OMIM	1	123	4238	604383
HP:0003593	HP:0003593	Infantile onset	0	GFPT1 CL E G H	2673	608931	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	608931	C1837091	OMIM	1	524	4241	138292
HP:0003593	HP:0003593	Infantile onset	0	GJA1 CL E G H	2697	104100	Alopecia congenita keratosis palmoplantaris	104100	C1863093	OMIM	1	272	4274	121014
HP:0003593	HP:0003593	Infantile onset	0	GJB2 CL E G H	2706	602540	Hystrix-like ichthyosis with deafness	602540	C1865234	OMIM	1	571	4284	121011
HP:0003593	HP:0003593	Infantile onset	0	GJB3 CL E G H	2707	133200	Erythrokeratodermia variabilis	133200	C0265961	OMIM	1	195	4285	603324
HP:0003593	HP:0003593	Infantile onset	0	GJC2 CL E G H	57165	608804	Leukodystrophy, hypomyelinating, 2	608804	C1837355	OMIM	1	323	17494	608803
HP:0003593	HP:0003593	Infantile onset	0	GLRA1 CL E G H	2741	149400	Hyperekplexia hereditary	149400	C1835614	OMIM	1	447	4326	138491
HP:0003593	HP:0003593	Infantile onset	0	GLRB CL E G H	2743	614619	Hyperekplexia 2	614619	C3553291	OMIM	1	379	4329	138492
HP:0003593	HP:0003593	Infantile onset	0	GNAS CL E G H	2778	166350	Progressive osseous heteroplasia	166350	C0334041	OMIM	1	644	4392	139320
HP:0003593	HP:0003593	Infantile onset	0	GNB1 CL E G H	2782	616973	Mental retardation, autosomal dominant 42	616973	C4310774	OMIM	1	382	4396	139380
HP:0003593	HP:0003593	Infantile onset	0	GP6 CL E G H	51206	614201	Platelet-type bleeding disorder 11	614201	C3280120	OMIM	1	192	14388	605546
HP:0003593	HP:0003593	Infantile onset	0	GPAA1 CL E G H	8733	617810	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15	617810	C4540520	OMIM	1	527	4446	603048
HP:0003593	HP:0003593	Infantile onset	0	GPD1 CL E G H	2819	614480	Hypertriglyceridemia, transient infantile	614480	C3280953	OMIM	1	96	4455	138420
HP:0003593	HP:0003593	Infantile onset	0	GPHN CL E G H	10243	149400	Hyperekplexia hereditary	149400	C1835614	OMIM	1	1473	15465	603930
HP:0003593	HP:0003593	Infantile onset	0	GRID2 CL E G H	2895	616204	Spinocerebellar ataxia, autosomal recessive 18	616204	C4015505	OMIM	1	241	4576	602368
HP:0003593	HP:0003593	Infantile onset	0	GRIK2 CL E G H	2898	611092	Mental retardation, autosomal recessive 6	611092	C1970198	OMIM	1	189	4580	138244
HP:0003593	HP:0003593	Infantile onset	0	GRIN1 CL E G H	2902	614254	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant	614254	C3280282	OMIM	1	929	4584	138249
HP:0003593	HP:0003593	Infantile onset	0	GRIN2D CL E G H	2906	617162	Epileptic encephalopathy, early infantile, 46	617162	C4310687	OMIM	1	823	4588	602717
HP:0003593	HP:0003593	Infantile onset	0	GRM1 CL E G H	2911	614831	Spinocerebellar ataxia, autosomal recessive 13	614831	C3553816	OMIM	1	298	4593	604473
HP:0003593	HP:0003593	Infantile onset	0	GTPBP2 CL E G H	54676	617988	JABERI-ELAHI SYNDROME	617988	CN244943	OMIM	1	147	4670	607434
HP:0003593	HP:0003593	Infantile onset	0	HAX1 CL E G H	10456	610738	Severe congenital neutropenia 3, autosomal recessive	610738	CN032247	OMIM	1	323	16915	605998
HP:0003593	HP:0003593	Infantile onset	0	HCFC1 CL E G H	3054	309541	Mental retardation 3, X-linked	309541	C0796208	OMIM	1	858	4839	300019
HP:0003593	HP:0003593	Infantile onset	0	HEPACAM CL E G H	220296	604004	Megalencephalic leukoencephalopathy with subcortical cysts 1	604004	C1858854	OMIM	1	304	26361	611642
HP:0003593	HP:0003593	Infantile onset	0	HERC2 CL E G H	8924	615516	Mental retardation, autosomal recessive 38	615516	C3809753	OMIM	1	936	4868	605837
HP:0003593	HP:0003593	Infantile onset	0	HEXA CL E G H	3073	272800	Tay-Sachs disease	272800	C0039373	OMIM	1	1002	4878	606869
HP:0003593	HP:0003593	Infantile onset	0	HIBCH CL E G H	26275	250620	Beta-hydroxyisobutyryl-CoA deacylase deficiency	250620	C0342738	OMIM	1	235	4908	610690
HP:0003593	HP:0003593	Infantile onset	0	HIKESHI CL E G H	51501	616881	Leukodystrophy, hypomyelinating, 13	616881	C4225170	OMIM	1	76	26938	614908
HP:0003593	HP:0003593	Infantile onset	0	HIVEP2 CL E G H	3097	616977	Mental retardation, autosomal dominant 43	616977	C4310771	OMIM	1	643	4921	143054
HP:0003593	HP:0003593	Infantile onset	0	HNF1A CL E G H	6927	600496	Maturity-onset diabetes of the young, type 3	600496	C1838100	OMIM	1	821	11621	142410
HP:0003593	HP:0003593	Infantile onset	0	HNMT CL E G H	3176	616739	Mental retardation, autosomal recessive 51	616739	C4225220	OMIM	1	53	5028	605238
HP:0003593	HP:0003593	Infantile onset	0	HNRNPU CL E G H	3192	617391	Epileptic encephalopathy, early infantile, 54	617391	C4479319	OMIM	1	882	5048	602869
HP:0003593	HP:0003593	Infantile onset	0	HSD17B10 CL E G H	3028	300438	2-methyl-3-hydroxybutyric aciduria	300438	C3266731	OMIM	1	256	4800	300256
HP:0003593	HP:0003593	Infantile onset	0	HSD17B4 CL E G H	3295	261515	Bifunctional peroxisomal enzyme deficiency	261515	C0342870	OMIM	1	983	5213	601860
HP:0003593	HP:0003593	Infantile onset	0	HYDIN CL E G H	54768	608647	Ciliary dyskinesia, primary, 5	608647	C1837615	OMIM	1	369	19368	610812
HP:0003593	HP:0003593	Infantile onset	0	IFT140 CL E G H	9742	266920	Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia	266920	C1849437	OMIM	1	1686	29077	614620
HP:0003593	HP:0003593	Infantile onset	0	IGHM CL E G H	3507	601495	Agammaglobulinemia, non-Bruton type	601495	C1832241	OMIM	1	83	5541	147020
HP:0003593	HP:0003593	Infantile onset	0	IGLL1 CL E G H	3543	613500	Agammaglobulinemia 2, autosomal recessive	613500	C3150750	OMIM	1	310	5870	146770
HP:0003593	HP:0003593	Infantile onset	0	IKBKB CL E G H	3551	615592	Immunodeficiency 15	615592	C3810043	OMIM	1	433	5960	603258
HP:0003593	HP:0003593	Infantile onset	0	IL21 CL E G H	59067	615767	Common variable immunodeficiency 11	615767	C4014258	OMIM	1	87	6005	605384
HP:0003593	HP:0003593	Infantile onset	0	ILDR1 CL E G H	286676	609646	Deafness, autosomal recessive 42	609646	C1864818	OMIM	1	237	28741	609739
HP:0003593	HP:0003593	Infantile onset	0	IMPDH1 CL E G H	3614	180105	Retinitis pigmentosa 10	180105	C1867299	OMIM	1	542	6052	146690
HP:0003593	HP:0003593	Infantile onset	0	ISCA1 CL E G H	81689	617613	MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5	617613	C4539919	OMIM	1	60	28660	611006
HP:0003593	HP:0003593	Infantile onset	0	ITGA7 CL E G H	3679	613204	Muscular dystrophy, congenital, due to integrin alpha-7 deficiency	613204	C2750786	OMIM	1	898	6143	600536
HP:0003593	HP:0003593	Infantile onset	0	ITPA CL E G H	3704	616647	Epileptic encephalopathy, early infantile, 35	616647	C4225256	OMIM	1	319	6176	147520
HP:0003593	HP:0003593	Infantile onset	0	JAG1 CL E G H	182	118450	Alagille syndrome 1	118450	C1956125	OMIM	1	1605	6188	601920
HP:0003593	HP:0003593	Infantile onset	0	JPH1 CL E G H	56704	607831	Charcot-Marie-Tooth disease type 2K	607831	C1842983	OMIM	1	57	14201	605266
HP:0003593	HP:0003593	Infantile onset	0	KATNB1 CL E G H	10300	616212	Lissencephaly 6, with microcephaly	616212	C4015525	OMIM	1	314	6217	602703
HP:0003593	HP:0003593	Infantile onset	0	KCNA2 CL E G H	3737	616366	Epileptic encephalopathy, early infantile, 32	616366	C4225350	OMIM	1	401	6220	176262
HP:0003593	HP:0003593	Infantile onset	0	KCNB1 CL E G H	3745	616056	Epileptic encephalopathy, early infantile, 26	616056	C4015119	OMIM	1	635	6231	600397
HP:0003593	HP:0003593	Infantile onset	0	KCNH1 CL E G H	3756	611816	Temple-Baraitser syndrome	611816	C2678486	OMIM	1	566	6250	603305
HP:0003593	HP:0003593	Infantile onset	0	KCNJ10 CL E G H	3766	612780	SeSAME syndrome	612780	C2748572	OMIM	1	381	6256	602208
HP:0003593	HP:0003593	Infantile onset	0	KCNMA1 CL E G H	3778	617643	CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES	617643	C4539985	OMIM	1	1097	6284	600150
HP:0003593	HP:0003593	Infantile onset	0	KCNQ2 CL E G H	3785	613720	Early infantile epileptic encephalopathy 7	613720	C3150986	OMIM	1	1962	6296	602235
HP:0003593	HP:0003593	Infantile onset	0	KCNT2 CL E G H	343450	617771	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 57	617771	C4540411	OMIM	1	147	18866	610044
HP:0003593	HP:0003593	Infantile onset	0	KDM5B CL E G H	10765	618109	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65	618109	CN253823	OMIM	1	254	18039	605393
HP:0003593	HP:0003593	Infantile onset	0	KIDINS220 CL E G H	57498	617296	Spastic paraplegia, intellectual disability, nystagmus, and obesity	617296	C4284592	OMIM	1	617	29508	615759
HP:0003593	HP:0003593	Infantile onset	0	KIF1A CL E G H	547	201300	Hereditary sensory and autonomic neuropathy type IIA	201300	C2752089	OMIM	1	2622	888	601255
HP:0003593	HP:0003593	Infantile onset	0	KITLG CL E G H	4254	145250	Familial progressive hyperpigmentation with or without hypopigmentation	145250	C1840392	OMIM	1	100	6343	184745
HP:0003593	HP:0003593	Infantile onset	0	KLHL7 CL E G H	55975	617055	Cold-induced sweating syndrome 3	617055	C4310742	OMIM	1	337	15646	611119
HP:0003593	HP:0003593	Infantile onset	0	KRT81 CL E G H	3887	158000	Beaded hair	158000	C0546966	OMIM	1	155	6458	602153
HP:0003593	HP:0003593	Infantile onset	0	KRT83 CL E G H	3889	158000	Beaded hair	158000	C0546966	OMIM	1	178	6460	602765
HP:0003593	HP:0003593	Infantile onset	0	KRT86 CL E G H	3892	158000	Beaded hair	158000	C0546966	OMIM	1	162	6463	601928
HP:0003593	HP:0003593	Infantile onset	0	L2HGDH CL E G H	79944	236792	L-2-hydroxyglutaric aciduria	236792	C1855995	OMIM	1	253	20499	609584
HP:0003593	HP:0003593	Infantile onset	0	LAMA3 CL E G H	3909	245660	Laryngoonychocutaneous syndrome	245660	C1328355	OMIM	1	1379	6483	600805
HP:0003593	HP:0003593	Infantile onset	0	LARGE1 CL E G H	9215	608840	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6	608840	C1837229	OMIM	1	786	6511	603590
HP:0003593	HP:0003593	Infantile onset	0	LCK CL E G H	3932	615758	Immunodeficiency 22	615758	C4014233	OMIM	1	229	6524	153390
HP:0003593	HP:0003593	Infantile onset	0	LIPT1 CL E G H	51601	616299	Lipoyltransferase 1 deficiency	616299	C4225379	OMIM	1	124	29569	610284
HP:0003593	HP:0003593	Infantile onset	0	LMAN2L CL E G H	81562	616887	Mental retardation, autosomal recessive 52	616887	C4225168	OMIM	1	91	19263	609552
HP:0003593	HP:0003593	Infantile onset	0	LMBRD1 CL E G H	55788	277380	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE	277380	C1848578	OMIM	1	276	23038	612625
HP:0003593	HP:0003593	Infantile onset	0	LRP5 CL E G H	4041	133780	Exudative vitreoretinopathy 1	133780	C1851402	OMIM	1	1819	6697	603506
HP:0003593	HP:0003593	Infantile onset	0	LRP5 CL E G H	4041	601813	Exudative vitreoretinopathy 4	601813	C1866176	OMIM	1	1819	6697	603506
HP:0003593	HP:0003593	Infantile onset	0	LRPPRC CL E G H	10128	220111	Leigh syndrome, French Canadian type	220111	C1857355	OMIM	1	1479	15714	607544
HP:0003593	HP:0003593	Infantile onset	0	MAGEL2 CL E G H	54551	615547	Schaaf-yang syndrome	615547	C3809877	OMIM	1	1013	6814	605283
HP:0003593	HP:0003593	Infantile onset	0	MAST1 CL E G H	22983	618273	618273	618273		OMIM	1	360	19034	612256
HP:0003593	HP:0003593	Infantile onset	0	MCOLN1 CL E G H	57192	252650	Mucolipidosis type IV	252650	C0238286	OMIM	1	669	13356	605248
HP:0003593	HP:0003593	Infantile onset	0	MED13L CL E G H	23389	616789	Mental retardation and distinctive facial features with or without cardiac defects	616789	C4225208	OMIM	1	1047	22962	608771
HP:0003593	HP:0003593	Infantile onset	0	METTL23 CL E G H	124512	615942	Mental retardation, autosomal recessive 44	615942	C4014745	OMIM	1	66	26988	615262
HP:0003593	HP:0003593	Infantile onset	0	MFF CL E G H	56947	617086	Encephalopathy due to defective mitochondrial and peroxisomal fission 2	617086	C4310726	OMIM	1	155	24858	614785
HP:0003593	HP:0003593	Infantile onset	0	MFN2 CL E G H	9927	601152	Hereditary motor and sensory neuropathy with optic atrophy	601152	C0393807	OMIM	1	1222	16877	608507
HP:0003593	HP:0003593	Infantile onset	0	MIPEP CL E G H	4285	617228	Combined oxidative phosphorylation deficiency 31	617228	C4310661	OMIM	1	264	7104	602241
HP:0003593	HP:0003593	Infantile onset	0	MLC1 CL E G H	23209	604004	Megalencephalic leukoencephalopathy with subcortical cysts 1	604004	C1858854	OMIM	1	677	17082	605908
HP:0003593	HP:0003593	Infantile onset	0	MMAA CL E G H	166785	251100	Methylmalonic aciduria cblA type	251100	C1855109	OMIM	1	483	18871	607481
HP:0003593	HP:0003593	Infantile onset	0	MMACHC CL E G H	25974	277400	Methylmalonic acidemia with homocystinuria	277400	C1848561	OMIM	1	524	24525	609831
HP:0003593	HP:0003593	Infantile onset	0	MMADHC CL E G H	27249	277410	Methylmalonic acidemia with homocystinuria cblD	277410	C1848552	OMIM	1	282	25221	611935
HP:0003593	HP:0003593	Infantile onset	0	MMP2 CL E G H	4313	259600	Multicentric osteolysis, nodulosis and arthropathy	259600	C1850155	OMIM	1	342	7166	120360
HP:0003593	HP:0003593	Infantile onset	0	MPV17 CL E G H	4358	256810	Navajo neurohepatopathy	256810	C1850406	OMIM	1	264	7224	137960
HP:0003593	HP:0003593	Infantile onset	0	MPZ CL E G H	4359	145900	Dejerine-Sottas disease	145900	C0011195	OMIM	1	607	7225	159440
HP:0003593	HP:0003593	Infantile onset	0	MRPL44 CL E G H	65080	615395	Combined oxidative phosphorylation deficiency 16	615395	C3809339	OMIM	1	152	16650	611849
HP:0003593	HP:0003593	Infantile onset	0	MRPS2 CL E G H	51116	617950	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 36	617950	CN244569	OMIM	1	114	14495	611971
HP:0003593	HP:0003593	Infantile onset	0	MRPS7 CL E G H	51081	617872	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34	617872	CN807947	OMIM	1	93	14499	611974
HP:0003593	HP:0003593	Infantile onset	0	MTFMT CL E G H	123263	618248	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27	618248		OMIM	1	243	29666	611766
HP:0003593	HP:0003593	Infantile onset	0	MTOR CL E G H	2475	607341	Focal cortical dysplasia type II	607341	C1846385	OMIM	1	2134	3942	601231
HP:0003593	HP:0003593	Infantile onset	0	MTR CL E G H	4548	250940	METHYLCOBALAMIN DEFICIENCY, cblG TYPE	250940	C1855128	OMIM	1	899	7468	156570
HP:0003593	HP:0003593	Infantile onset	0	MTRR CL E G H	4552	236270	Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type	236270	C1856057	OMIM	1	872	7473	602568
HP:0003593	HP:0003593	Infantile onset	0	MUSK CL E G H	4593	616325	Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency	616325	C4225368	OMIM	1	620	7525	601296
HP:0003593	HP:0003593	Infantile onset	0	MYH7 CL E G H	4625	160500	Myopathy, distal, 1	160500	CN074249	OMIM	1	4106	7577	160760
HP:0003593	HP:0003593	Infantile onset	0	MYMK CL E G H	389827	254940	Congenital nonprogressive myopathy with Moebius and Robin sequences	254940	C1850746	OMIM	1	86	33778	615345
HP:0003593	HP:0003593	Infantile onset	0	MYO5A CL E G H	4644	214450	Griscelli syndrome type 1	214450	C1859194	OMIM	1	337	7602	160777
HP:0003593	HP:0003593	Infantile onset	0	NAGA CL E G H	4668	609241	Schindler disease, type 1	609241	C1836544	OMIM	1	230	7631	104170
HP:0003593	HP:0003593	Infantile onset	0	NDUFA10 CL E G H	4705	618243	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22	618243		OMIM	1	421	7684	603835
HP:0003593	HP:0003593	Infantile onset	0	NDUFA13 CL E G H	51079	618249	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28	618249		OMIM	1	65	17194	609435
HP:0003593	HP:0003593	Infantile onset	0	NDUFAF1 CL E G H	51103	618234	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11	618234		OMIM	1	154	18828	606934
HP:0003593	HP:0003593	Infantile onset	0	NDUFB8 CL E G H	4714	618252	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32	618252		OMIM	1	82	7703	602140
HP:0003593	HP:0003593	Infantile onset	0	NDUFB9 CL E G H	4715	618245	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 24	618245		OMIM	1	144	7704	601445
HP:0003593	HP:0003593	Infantile onset	0	NDUFS1 CL E G H	4719	618226	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5	618226		OMIM	1	424	7707	157655
HP:0003593	HP:0003593	Infantile onset	0	NDUFS2 CL E G H	4720	618228	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6	618228		OMIM	1	247	7708	602985
HP:0003593	HP:0003593	Infantile onset	0	NDUFS4 CL E G H	4724	252010	Mitochondrial complex I deficiency	252010	C1838979	OMIM	1	139	7711	602694
HP:0003593	HP:0003593	Infantile onset	0	NDUFV1 CL E G H	4723	618225	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4	618225		OMIM	1	315	7716	161015
HP:0003593	HP:0003593	Infantile onset	0	NDUFV2 CL E G H	4729	618229	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7	618229		OMIM	1	229	7717	600532
HP:0003593	HP:0003593	Infantile onset	0	NEB CL E G H	4703	256030	Nemaline myopathy 2	256030	C1850569	OMIM	1	8530	7720	161650
HP:0003593	HP:0003593	Infantile onset	0	NFE2L2 CL E G H	4780	617744	IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA	617744	C4540293	OMIM	1	257	7782	600492
HP:0003593	HP:0003593	Infantile onset	0	NFKBIA CL E G H	4792	612132	Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant	612132	C2677481	OMIM	1	262	7797	164008
HP:0003593	HP:0003593	Infantile onset	0	NGF CL E G H	4803	608654	Congenital sensory neuropathy with selective loss of small myelinated fibers	608654	C0020075	OMIM	1	178	7808	162030
HP:0003593	HP:0003593	Infantile onset	0	NKX6-2 CL E G H	84504	617560	SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY	617560	C4479653	OMIM	1	233	19321	605955
HP:0003593	HP:0003593	Infantile onset	0	NLRP12 CL E G H	91662	611762	Familial cold autoinflammatory syndrome 2	611762	C2673198	OMIM	1	1036	22938	609648
HP:0003593	HP:0003593	Infantile onset	0	NLRP3 CL E G H	114548	191900	Familial amyloid nephropathy with urticaria AND deafness	191900	C0268390	OMIM	1	917	16400	606416
HP:0003593	HP:0003593	Infantile onset	0	NLRP3 CL E G H	114548	120100	Familial cold urticaria	120100	C0343068	OMIM	1	917	16400	606416
HP:0003593	HP:0003593	Infantile onset	0	NR3C2 CL E G H	4306	177735	Pseudohypoaldosteronism type 1 autosomal dominant	177735	C1449842	OMIM	1	287	7979	600983
HP:0003593	HP:0003593	Infantile onset	0	NTRK1 CL E G H	4914	256800	Hereditary insensitivity to pain with anhidrosis	256800	C0020074	OMIM	1	1262	8031	191315
HP:0003593	HP:0003593	Infantile onset	0	OPHN1 CL E G H	4983	300486	Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance	300486	C1845366	OMIM	1	475	8148	300127
HP:0003593	HP:0003593	Infantile onset	0	PAK1 CL E G H	5058	618158	INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY	618158		OMIM	1	79	8590	602590
HP:0003593	HP:0003593	Infantile onset	0	PARN CL E G H	5073	616353	Dyskeratosis congenita, autosomal recessive 6	616353	C4225356	OMIM	1	627	8609	604212
HP:0003593	HP:0003593	Infantile onset	0	PAX2 CL E G H	5076	120330	Renal coloboma syndrome	120330	C1852759	OMIM	1	406	8616	167409
HP:0003593	HP:0003593	Infantile onset	0	PCDH12 CL E G H	51294	251280	Microcephaly with spastic quadriplegia	251280	C1855055	OMIM	1	373	8657	605622
HP:0003593	HP:0003593	Infantile onset	0	PCDH15 CL E G H	65217	609533	Deafness, autosomal recessive 23	609533	C1836027	OMIM	1	2917	14674	605514
HP:0003593	HP:0003593	Infantile onset	0	PCDH19 CL E G H	57526	300088	Early infantile epileptic encephalopathy 9	300088	C1848137	OMIM	1	1298	14270	300460
HP:0003593	HP:0003593	Infantile onset	0	PCK1 CL E G H	5105	261680	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	261680	C1849814	OMIM	1	235	8724	614168
HP:0003593	HP:0003593	Infantile onset	0	PDE10A CL E G H	10846	616921	Dyskinesia, limb and orofacial, infantile-onset	616921	C4310792	OMIM	1	222	8772	610652
HP:0003593	HP:0003593	Infantile onset	0	PDHA1 CL E G H	5160	312170	Pyruvate dehydrogenase E1-alpha deficiency	312170	C1839413	OMIM	1	679	8806	300502
HP:0003593	HP:0003593	Infantile onset	0	PDP1 CL E G H	54704	608782	Pyruvate dehydrogenase phosphatase deficiency	608782	C1837429	OMIM	1	185	9279	605993
HP:0003593	HP:0003593	Infantile onset	0	PGAP3 CL E G H	93210	615716	Hyperphosphatasia with mental retardation syndrome 4	615716	C3810354	OMIM	1	169	23719	611801
HP:0003593	HP:0003593	Infantile onset	0	PHIP CL E G H	55023	617991	DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES	617991	CN248510	OMIM	1	547	15673	612870
HP:0003593	HP:0003593	Infantile onset	0	PHKG2 CL E G H	5261	613027	Glycogen storage disease IXc	613027	C2751643	OMIM	1	216	8931	172471
HP:0003593	HP:0003593	Infantile onset	0	PIGT CL E G H	51604	615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3	615398	C3809356	OMIM	1	277	14938	610272
HP:0003593	HP:0003593	Infantile onset	0	PIK3R1 CL E G H	5295	615214	Agammaglobulinemia 7, autosomal recessive	615214	C3554689	OMIM	1	457	8979	171833
HP:0003593	HP:0003593	Infantile onset	0	PINK1 CL E G H	65018	605909	Parkinson disease 6, autosomal recessive early-onset	605909	C1853833	OMIM	1	384	14581	608309
HP:0003593	HP:0003593	Infantile onset	0	PLA2G6 CL E G H	8398	256600	Infantile neuroaxonal dystrophy	256600	C0270724	OMIM	1	775	9039	603604
HP:0003593	HP:0003593	Infantile onset	0	PLCG2 CL E G H	5336	614878	Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated	614878	C3553961	OMIM	1	1254	9066	600220
HP:0003593	HP:0003593	Infantile onset	0	PLEKHG2 CL E G H	64857	616763	Leukodystrophy and acquired microcephaly with or without dystonia	616763	C4225213	OMIM	1	408	29515	611893
HP:0003593	HP:0003593	Infantile onset	0	PLG CL E G H	5340	217090	Plasminogen deficiency, type I	217090	C1968804	OMIM	1	297	9071	173350
HP:0003593	HP:0003593	Infantile onset	0	PLP1 CL E G H	5354	312080	Pelizaeus-Merzbacher disease	312080	C0205711	OMIM	1	451	9086	300401
HP:0003593	HP:0003593	Infantile onset	0	PMP22 CL E G H	5376	145900	Dejerine-Sottas disease	145900	C0011195	OMIM	1	492	9118	601097
HP:0003593	HP:0003593	Infantile onset	0	PMPCA CL E G H	23203	213200	Spinocerebellar ataxia, autosomal recessive 2	213200	C1859298	OMIM	1	205	18667	613036
HP:0003593	HP:0003593	Infantile onset	0	PNKD CL E G H	25953	118800	Paroxysmal nonkinesigenic dyskinesia 1	118800		OMIM	1	521	9153	609023
HP:0003593	HP:0003593	Infantile onset	0	PNPLA8 CL E G H	50640	251950	Mitochondrial myopathy with lactic acidosis	251950	C1855033	OMIM	1	271	28900	612123
HP:0003593	HP:0003593	Infantile onset	0	POLG CL E G H	5428	613662	Mitochondrial DNA depletion syndrome 4B, MNGIE type	613662	C3150914	OMIM	1	2324	9179	174763
HP:0003593	HP:0003593	Infantile onset	0	POLG CL E G H	5428	203700	Progressive sclerosing poliodystrophy	203700	C0205710	OMIM	1	2324	9179	174763
HP:0003593	HP:0003593	Infantile onset	0	POMC CL E G H	5443	609734	Proopiomelanocortin deficiency	609734	C1857854	OMIM	1	149	9201	176830
HP:0003593	HP:0003593	Infantile onset	0	POMK CL E G H	84197	616094	Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12	616094	C4015184	OMIM	1	307	26267	615247
HP:0003593	HP:0003593	Infantile onset	0	POMT1 CL E G H	10585	613155	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1	613155	C3150415	OMIM	1	906	9202	607423
HP:0003593	HP:0003593	Infantile onset	0	POMT1 CL E G H	10585	609308	Limb-girdle muscular dystrophy-dystroglycanopathy, type C1	609308	C1836373	OMIM	1	906	9202	607423
HP:0003593	HP:0003593	Infantile onset	0	POMT2 CL E G H	29954	613158	Limb-girdle muscular dystrophy-dystroglycanopathy, type C2	613158	C3150418	OMIM	1	936	19743	607439
HP:0003593	HP:0003593	Infantile onset	0	PRDX1 CL E G H	5052	277400	Methylmalonic acidemia with homocystinuria	277400	C1848561	OMIM	1	64	9352	176763
HP:0003593	HP:0003593	Infantile onset	0	PRKCD CL E G H	5580	615559	Autoimmune lymphoproliferative syndrome, type III	615559	C3809928	OMIM	1	458	9399	176977
HP:0003593	HP:0003593	Infantile onset	0	PRKDC CL E G H	5591	615966	Immunodeficiency 26 with or without neurologic abnormalities	615966	C4014833	OMIM	1	3748	9413	600899
HP:0003593	HP:0003593	Infantile onset	0	PRMT7 CL E G H	54496	617157	Short stature, brachydactyly, intellectual developmental disability, and seizures	617157	C4310689	OMIM	1	215	25557	610087
HP:0003593	HP:0003593	Infantile onset	0	PRX CL E G H	57716	145900	Dejerine-Sottas disease	145900	C0011195	OMIM	1	1243	13797	605725
HP:0003593	HP:0003593	Infantile onset	0	PSAP CL E G H	5660	611722	Krabbe disease atypical due to Saposin A deficiency	611722	C2673266	OMIM	1	772	9498	176801
HP:0003593	HP:0003593	Infantile onset	0	PSAT1 CL E G H	29968	610992	Phosphoserine aminotransferase deficiency	610992	C1970253	OMIM	1	498	19129	610936
HP:0003593	HP:0003593	Infantile onset	0	PSPH CL E G H	5723	614023	Deficiency of phosphoserine phosphatase	614023	C1291463	OMIM	1	189	9577	172480
HP:0003593	HP:0003593	Infantile onset	0	PTPRQ CL E G H	374462	613391	Deafness, autosomal recessive 84	613391	C3150654	OMIM	1	420	9679	603317
HP:0003593	HP:0003593	Infantile onset	0	PTS CL E G H	5805	261640	6-pyruvoyl-tetrahydropterin synthase deficiency	261640	C0878676	OMIM	1	263	9689	612719
HP:0003593	HP:0003593	Infantile onset	0	PUS3 CL E G H	83480	617051	Mental retardation, autosomal recessive 55	617051	C4310745	OMIM	1	304	25461	616283
HP:0003593	HP:0003593	Infantile onset	0	QDPR CL E G H	5860	261630	Dihydropteridine reductase deficiency	261630	C0268465	OMIM	1	319	9752	612676
HP:0003593	HP:0003593	Infantile onset	0	RAB27A CL E G H	5873	607624	Griscelli syndrome type 2	607624	C1868679	OMIM	1	298	9766	603868
HP:0003593	HP:0003593	Infantile onset	0	RAG1 CL E G H	5896	233650	Combined cellular and humoral immune defects with granulomas	233650	C2673536	OMIM	1	635	9831	179615
HP:0003593	HP:0003593	Infantile onset	0	RAG2 CL E G H	5897	233650	Combined cellular and humoral immune defects with granulomas	233650	C2673536	OMIM	1	451	9832	179616
HP:0003593	HP:0003593	Infantile onset	0	RASGRP2 CL E G H	10235	615888	Platelet-type bleeding disorder 18	615888	C4014584	OMIM	1	156	9879	605577
HP:0003593	HP:0003593	Infantile onset	0	RDX CL E G H	5962	611022	Deafness, autosomal recessive 24	611022	C1970239	OMIM	1	259	9944	179410
HP:0003593	HP:0003593	Infantile onset	0	RERE CL E G H	473	616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	616975	C4310772	OMIM	1	659	9965	605226
HP:0003593	HP:0003593	Infantile onset	0	RETREG1 CL E G H	54463	201300	Hereditary sensory and autonomic neuropathy type IIA	201300	C2752089	OMIM	1	523	25964	613114
HP:0003593	HP:0003593	Infantile onset	0	RFT1 CL E G H	91869	612015	Congenital disorder of glycosylation type 1N	612015	C2677590	OMIM	1	505	30220	611908
HP:0003593	HP:0003593	Infantile onset	0	RNASEH2A CL E G H	10535	610333	Aicardi Goutieres syndrome 4	610333	C1835912	OMIM	1	404	18518	606034
HP:0003593	HP:0003593	Infantile onset	0	ROR1 CL E G H	4919	617654	DEAFNESS, AUTOSOMAL RECESSIVE 108	617654	C4539997	OMIM	1	147	10256	602336
HP:0003593	HP:0003593	Infantile onset	0	RORC CL E G H	6097	616622	Immunodeficiency 42	616622	C4225266	OMIM	1	255	10260	602943
HP:0003593	HP:0003593	Infantile onset	0	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	1494	29168	610937
HP:0003593	HP:0003593	Infantile onset	0	RPL35A CL E G H	6165	612528	Diamond-Blackfan anemia 5	612528	C2675859	OMIM	1	150	10345	180468
HP:0003593	HP:0003593	Infantile onset	0	RPS19 CL E G H	6223	105650	Diamond-Blackfan anemia 1	105650	C2676137	OMIM	1	214	10402	603474
HP:0003593	HP:0003593	Infantile onset	0	RPS26 CL E G H	6231	613309	Diamond-Blackfan anemia 10	613309	C2750080	OMIM	1	131	10414	603701
HP:0003593	HP:0003593	Infantile onset	0	RPS28 CL E G H	6234	606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis	606164	C1853576	OMIM	1	26	10418	603685
HP:0003593	HP:0003593	Infantile onset	0	RPSA CL E G H	3921	271400	Asplenia, isolated congenital	271400	C0685889	OMIM	1	86	6502	150370
HP:0003593	HP:0003593	Infantile onset	0	RUSC2 CL E G H	9853	617773	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61	617773	C4540424	OMIM	1	824	23625	611053
HP:0003593	HP:0003593	Infantile onset	0	RYR1 CL E G H	6261	117000	117000	117000		OMIM	1	6164	10483	180901
HP:0003593	HP:0003593	Infantile onset	0	S1PR2 CL E G H	9294	610419	Deafness, autosomal recessive 68	610419	C1835854	OMIM	1	94	3169	605111
HP:0003593	HP:0003593	Infantile onset	0	SACS CL E G H	26278	270550	Spastic ataxia Charlevoix-Saguenay type	270550	C1849140	OMIM	1	3377	10519	604490
HP:0003593	HP:0003593	Infantile onset	0	SAR1B CL E G H	51128	246700	Chylomicron retention disease	246700	C0795956	OMIM	1	140	10535	607690
HP:0003593	HP:0003593	Infantile onset	0	SARS2 CL E G H	54938	613845	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis	613845	C3151209	OMIM	1	256	17697	612804
HP:0003593	HP:0003593	Infantile onset	0	SASH1 CL E G H	23328	127500	Dyschromatosis universalis hereditaria 1	127500	C2675711	OMIM	1	173	19182	607955
HP:0003593	HP:0003593	Infantile onset	0	SCN1A CL E G H	6323	607208	Severe myoclonic epilepsy in infancy	607208	C0751122	OMIM	1	4030	10585	182389
HP:0003593	HP:0003593	Infantile onset	0	SCN2A CL E G H	6326	613721	Early infantile epileptic encephalopathy 11	613721	C3150987	OMIM	1	2280	10588	182390
HP:0003593	HP:0003593	Infantile onset	0	SCN3A CL E G H	6328	617938	Early infantile epileptic encephalopathy 62	617938	CN244551	OMIM	1	1420	10590	182391
HP:0003593	HP:0003593	Infantile onset	0	SCN4A CL E G H	6329	614198	Congenital myasthenic syndrome, acetazolamide-responsive	614198	C3502630	OMIM	1	1765	10591	603967
HP:0003593	HP:0003593	Infantile onset	0	SCN4A CL E G H	6329	170500	Hyperkalemic Periodic Paralysis Type 1	170500	CN074266	OMIM	1	1765	10591	603967
HP:0003593	HP:0003593	Infantile onset	0	SCN4A CL E G H	6329	168300	Paramyotonia congenita of von Eulenburg	168300	C0221055	OMIM	1	1765	10591	603967
HP:0003593	HP:0003593	Infantile onset	0	SCN9A CL E G H	6335	201300	Hereditary sensory and autonomic neuropathy type IIA	201300	C2752089	OMIM	1	2254	10597	603415
HP:0003593	HP:0003593	Infantile onset	0	SCN9A CL E G H	6335	243000	Indifference to pain, congenital, autosomal recessive	243000	C1855739	OMIM	1	2254	10597	603415
HP:0003593	HP:0003593	Infantile onset	0	SCNN1A CL E G H	6337	264350	Pseudohypoaldosteronism type 1 autosomal recessive	264350	C1449843	OMIM	1	288	10599	600228
HP:0003593	HP:0003593	Infantile onset	0	SCNN1B CL E G H	6338	264350	Pseudohypoaldosteronism type 1 autosomal recessive	264350	C1449843	OMIM	1	285	10600	600760
HP:0003593	HP:0003593	Infantile onset	0	SCNN1G CL E G H	6340	264350	Pseudohypoaldosteronism type 1 autosomal recessive	264350	C1449843	OMIM	1	212	10602	600761
HP:0003593	HP:0003593	Infantile onset	0	SDHA CL E G H	6389	256000	Leigh syndrome	256000	C0023264	OMIM	1	2503	10680	600857
HP:0003593	HP:0003593	Infantile onset	0	SDHA CL E G H	6389	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	2503	10680	600857
HP:0003593	HP:0003593	Infantile onset	0	SDHAF1 CL E G H	644096	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	77	33867	612848
HP:0003593	HP:0003593	Infantile onset	0	SDHD CL E G H	6392	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	686	10683	602690
HP:0003593	HP:0003593	Infantile onset	0	SELENON CL E G H	57190	602771	Eichsfeld type congenital muscular dystrophy	602771	C0410180	OMIM	1	651	15999	606210
HP:0003593	HP:0003593	Infantile onset	0	SEPSECS CL E G H	51091	613811	Pontocerebellar hypoplasia type 2D	613811	C3151140	OMIM	1	481	30605	613009
HP:0003593	HP:0003593	Infantile onset	0	SFTPB CL E G H	6439	265120	Surfactant metabolism dysfunction, pulmonary, 1	265120	C1968602	OMIM	1	195	10801	178640
HP:0003593	HP:0003593	Infantile onset	0	SIL1 CL E G H	64374	248800	Marinesco-Sjögren syndrome	248800	C0024814	OMIM	1	352	24624	608005
HP:0003593	HP:0003593	Infantile onset	0	SLC10A2 CL E G H	6555	613291	Bile acid malabsorption, primary	613291	C2750087	OMIM	1	294	10906	601295
HP:0003593	HP:0003593	Infantile onset	0	SLC12A5 CL E G H	57468	616645	Early infantile epileptic encephalopathy 34	616645	C4225257	OMIM	1	791	13818	606726
HP:0003593	HP:0003593	Infantile onset	0	SLC18A2 CL E G H	6571	618049	PARKINSONISM-DYSTONIA, INFANTILE, 2	618049	CN248785	OMIM	1	183	10935	193001
HP:0003593	HP:0003593	Infantile onset	0	SLC25A12 CL E G H	8604	612949	Hypomyelination, global cerebral	612949	C2751855	OMIM	1	451	10982	603667
HP:0003593	HP:0003593	Infantile onset	0	SLC25A26 CL E G H	115286	616794	Combined oxidative phosphorylation deficiency 28	616794	C4225206	OMIM	1	142	20661	611037
HP:0003593	HP:0003593	Infantile onset	0	SLC25A38 CL E G H	54977	205950	Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive	205950	C2673914	OMIM	1	191	26054	610819
HP:0003593	HP:0003593	Infantile onset	0	SLC2A1 CL E G H	6513	606777	GLUT1 deficiency syndrome 1	606777	CN030711	OMIM	1	965	11005	138140
HP:0003593	HP:0003593	Infantile onset	0	SLC2A1 CL E G H	6513	608885	Stomatin-deficient cryohydrocytosis with neurologic defects	608885	C1837206	OMIM	1	965	11005	138140
HP:0003593	HP:0003593	Infantile onset	0	SLC33A1 CL E G H	9197	614482	Congenital cataracts, hearing loss, and neurodegeneration	614482	C3280965	OMIM	1	213	95	603690
HP:0003593	HP:0003593	Infantile onset	0	SLC34A3 CL E G H	142680	241530	Autosomal recessive hypophosphatemic bone disease	241530	C1853271	OMIM	1	569	20305	609826
HP:0003593	HP:0003593	Infantile onset	0	SLC35A1 CL E G H	10559	603585	Congenital disorder of glycosylation type 2F	603585	C1970344	OMIM	1	125	11021	605634
HP:0003593	HP:0003593	Infantile onset	0	SLC35A2 CL E G H	7355	300896	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm	300896	C3806688	OMIM	1	429	11022	314375
HP:0003593	HP:0003593	Infantile onset	0	SLC39A4 CL E G H	55630	201100	Hereditary acrodermatitis enteropathica	201100	C0221036	OMIM	1	736	17129	607059
HP:0003593	HP:0003593	Infantile onset	0	SLC46A1 CL E G H	113235	229050	Congenital defect of folate absorption	229050	C0342705	OMIM	1	329	30521	611672
HP:0003593	HP:0003593	Infantile onset	0	SLC6A3 CL E G H	6531	613135	Infantile Parkinsonism-dystonia	613135	C2751067	OMIM	1	583	11049	126455
HP:0003593	HP:0003593	Infantile onset	0	SLC6A5 CL E G H	9152	614618	Hyperekplexia 3	614618	C3553288	OMIM	1	718	11051	604159
HP:0003593	HP:0003593	Infantile onset	0	SLC6A8 CL E G H	6535	300352	Creatine deficiency, X-linked	300352	C1845862	OMIM	1	1062	11055	300036
HP:0003593	HP:0003593	Infantile onset	0	SLC7A7 CL E G H	9056	222700	Lysinuric protein intolerance	222700	C0268647	OMIM	1	671	11065	603593
HP:0003593	HP:0003593	Infantile onset	0	SLURP1 CL E G H	57152	248300	Acroerythrokeratoderma	248300	C0025221	OMIM	1	94	18746	606119
HP:0003593	HP:0003593	Infantile onset	0	SMPD1 CL E G H	6609	257200	Niemann-Pick disease, type A	257200	C0268242	OMIM	1	864	11120	607608
HP:0003593	HP:0003593	Infantile onset	0	SNAP29 CL E G H	9342	609528	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome	609528	C1836033	OMIM	1	658	11133	604202
HP:0003593	HP:0003593	Infantile onset	0	SNX14 CL E G H	57231	616354	Spinocerebellar ataxia, autosomal recessive 20	616354	C4225355	OMIM	1	270	14977	616105
HP:0003593	HP:0003593	Infantile onset	0	SOST CL E G H	50964	122860	Craniodiaphyseal dysplasia, autosomal dominant	122860	C2675746	OMIM	1	99	13771	605740
HP:0003593	HP:0003593	Infantile onset	0	SPECC1L CL E G H	23384	145410	Opitz G/BBB syndrome	145410	C1801950	OMIM	1	309	29022	614140
HP:0003593	HP:0003593	Infantile onset	0	SPEG CL E G H	10290	615959	Myopathy, centronuclear, 5	615959	C4014814	OMIM	1	1482	16901	615950
HP:0003593	HP:0003593	Infantile onset	0	SPR CL E G H	6697	612716	Sepiapterin reductase deficiency	612716	C0268468	OMIM	1	198	11257	182125
HP:0003593	HP:0003593	Infantile onset	0	SPTAN1 CL E G H	6709	613477	Early infantile epileptic encephalopathy 5	613477	C3150731	OMIM	1	2267	11273	182810
HP:0003593	HP:0003593	Infantile onset	0	SPTBN2 CL E G H	6712	615386	Spinocerebellar ataxia, autosomal recessive 14	615386	C3809327	OMIM	1	938	11276	604985
HP:0003593	HP:0003593	Infantile onset	0	SRD5A3 CL E G H	79644	612379	Congenital disorder of glycosylation type 1Q	612379	C3150191	OMIM	1	236	25812	611715
HP:0003593	HP:0003593	Infantile onset	0	STAT3 CL E G H	6774	147060	Hyperimmunoglobulin E syndrome	147060	C3489795	OMIM	1	639	11364	102582
HP:0003593	HP:0003593	Infantile onset	0	SUCLA2 CL E G H	8803	612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	612073	C2749864	OMIM	1	413	11448	603921
HP:0003593	HP:0003593	Infantile onset	0	SUCLG1 CL E G H	8802	245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)	245400	C3151476	OMIM	1	303	11449	611224
HP:0003593	HP:0003593	Infantile onset	0	SURF1 CL E G H	6834	256000	Leigh syndrome	256000	C0023264	OMIM	1	532	11474	185620
HP:0003593	HP:0003593	Infantile onset	0	SYT1 CL E G H	6857	618218	BAKER-GORDON SYNDROME	618218		OMIM	1	76	11509	185605
HP:0003593	HP:0003593	Infantile onset	0	TBC1D24 CL E G H	57465	605021	Myoclonic epilepsy, familial infantile	605021	C0917800	OMIM	1	893	29203	613577
HP:0003593	HP:0003593	Infantile onset	0	TBCE CL E G H	6905	617207	Encephalopathy, progressive, with amyotrophy and optic atrophy	617207	C4310667	OMIM	1	456	11582	604934
HP:0003593	HP:0003593	Infantile onset	0	TBX19 CL E G H	9095	201400	Adrenocorticotropic hormone deficiency	201400	C0342388	OMIM	1	165	11596	604614
HP:0003593	HP:0003593	Infantile onset	0	TCF3 CL E G H	6929	616941	Agammaglobulinemia 8, autosomal dominant	616941	C4310786	OMIM	1	744	11633	147141
HP:0003593	HP:0003593	Infantile onset	0	TCTN2 CL E G H	79867	616654	Joubert syndrome 24	616654	C4084841	OMIM	1	622	25774	613846
HP:0003593	HP:0003593	Infantile onset	0	TGM3 CL E G H	7053	617251	Uncombable hair syndrome 2	617251	C4310649	OMIM	1	67	11779	600238
HP:0003593	HP:0003593	Infantile onset	0	TH CL E G H	7054	605407	Segawa syndrome, autosomal recessive	605407	C1854299	OMIM	1	967	11782	191290
HP:0003593	HP:0003593	Infantile onset	0	TIMMDC1 CL E G H	51300	618251	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31	618251		OMIM	1	102	1321	615534
HP:0003593	HP:0003593	Infantile onset	0	TK2 CL E G H	7084	609560	Mitochondrial DNA depletion syndrome 2	609560	C3149750	OMIM	1	442	11831	188250
HP:0003593	HP:0003593	Infantile onset	0	TLK2 CL E G H	11011	618050	MENTAL RETARDATION, AUTOSOMAL DOMINANT 57	618050	CN252334	OMIM	1	170	11842	608439
HP:0003593	HP:0003593	Infantile onset	0	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	928	28396	609884
HP:0003593	HP:0003593	Infantile onset	0	TMTC3 CL E G H	160418	617255	Lissencephaly 8	617255	C4310646	OMIM	1	192	26899	617218
HP:0003593	HP:0003593	Infantile onset	0	TNNT1 CL E G H	7138	605355	Nemaline myopathy 5	605355	C1854380	OMIM	1	372	11948	191041
HP:0003593	HP:0003593	Infantile onset	0	TRAC CL E G H	28755	615387	T-cell receptor alpha/beta deficiency	615387	C3809332	OMIM	1	12	12029	186880
HP:0003593	HP:0003593	Infantile onset	0	TRAPPC9 CL E G H	83696	613192	Mental retardation, autosomal recessive 13	613192	C2750791	OMIM	1	831	30832	611966
HP:0003593	HP:0003593	Infantile onset	0	TRIOBP CL E G H	11078	609823	Deafness, autosomal recessive 28	609823	C1853276	OMIM	1	827	17009	609761
HP:0003593	HP:0003593	Infantile onset	0	TRIT1 CL E G H	54802	617873	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35	617873	CN807948	OMIM	1	113	20286	617840
HP:0003593	HP:0003593	Infantile onset	0	TRMT1 CL E G H	55621	618302	618302	618302		OMIM	1	138	25980	611669
HP:0003593	HP:0003593	Infantile onset	0	TRPA1 CL E G H	8989	615040	Familial episodic pain syndrome 1	615040	C3808667	OMIM	1	114	497	604775
HP:0003593	HP:0003593	Infantile onset	0	TRPM6 CL E G H	140803	602014	Hypomagnesemia 1, intestinal	602014	C1865974	OMIM	1	561	17995	607009
HP:0003593	HP:0003593	Infantile onset	0	TSC1 CL E G H	7248	607341	Focal cortical dysplasia type II	607341	C1846385	OMIM	1	4172	12362	605284
HP:0003593	HP:0003593	Infantile onset	0	TSC2 CL E G H	7249	607341	Focal cortical dysplasia type II	607341	C1846385	OMIM	1	9638	12363	191092
HP:0003593	HP:0003593	Infantile onset	0	TSHR CL E G H	7253	275200	Hypothyroidism, congenital, nongoitrous, 1	275200	C3493776	OMIM	1	249	12373	603372
HP:0003593	HP:0003593	Infantile onset	0	TTI2 CL E G H	80185	615541	Mental retardation, autosomal recessive 39	615541	C3809853	OMIM	1	139	26262	614426
HP:0003593	HP:0003593	Infantile onset	0	TTN CL E G H	7273	611705	Myopathy, early-onset, with fatal cardiomyopathy	611705	C2673677	OMIM	1	27503	12403	188840
HP:0003593	HP:0003593	Infantile onset	0	TUBB6 CL E G H	84617	617732	FACIAL PALSY, CONGENITAL, WITH PTOSIS AND VELOPHARYNGEAL DYSFUNCTION	617732	C4540277	OMIM	1	142	20776	615103
HP:0003593	HP:0003593	Infantile onset	0	TUFM CL E G H	7284	610678	Combined oxidative phosphorylation deficiency 4	610678	C1857682	OMIM	1	323	12420	602389
HP:0003593	HP:0003593	Infantile onset	0	TXN2 CL E G H	25828	616811	Combined oxidative phosphorylation deficiency 29	616811	C4225200	OMIM	1	76	17772	609063
HP:0003593	HP:0003593	Infantile onset	0	UPB1 CL E G H	51733	613161	Deficiency of beta-ureidopropionase	613161	C1291512	OMIM	1	271	16297	606673
HP:0003593	HP:0003593	Infantile onset	0	UQCC2 CL E G H	84300	615824	Mitochondrial complex III deficiency, nuclear type 7	615824	C4014408	OMIM	1	64	21237	614461
HP:0003593	HP:0003593	Infantile onset	0	UVSSA CL E G H	57654	614640	UV-sensitive syndrome 3	614640	C3553328	OMIM	1	278	29304	614632
HP:0003593	HP:0003593	Infantile onset	0	VARS CL E G H	7407	617802	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY	617802	C4540493	OMIM	1		12651	192150
HP:0003593	HP:0003593	Infantile onset	0	VARS2 CL E G H	57176	615917	Combined oxidative phosphorylation deficiency 20	615917	C4014660	OMIM	1	438	21642	612802
HP:0003593	HP:0003593	Infantile onset	0	VDR CL E G H	7421	277440	Vitamin D-dependent rickets, type 2	277440	C0342646	OMIM	1	345	12679	601769
HP:0003593	HP:0003593	Infantile onset	0	VPS33A CL E G H	65082	617303	Mucopolysaccharidosis-plus syndrome	617303	C4310627	OMIM	1	274	18179	610034
HP:0003593	HP:0003593	Infantile onset	0	VPS45 CL E G H	11311	615285	Severe congenital neutropenia 5, autosomal recessive	615285	C3809031	OMIM	1	452	14579	610035
HP:0003593	HP:0003593	Infantile onset	0	VPS53 CL E G H	55275	615851	Pontocerebellar hypoplasia, type 2e	615851	C4014488	OMIM	1	359	25608	615850
HP:0003593	HP:0003593	Infantile onset	0	WAC CL E G H	51322	616708	Desanto-shinawi syndrome	616708	C4225239	OMIM	1	276	17327	615049
HP:0003593	HP:0003593	Infantile onset	0	WDR26 CL E G H	80232	617616	SKRABAN-DEARDORFF SYNDROME	617616	C4539927	OMIM	1	185	21208	617424
HP:0003593	HP:0003593	Infantile onset	0	WDR45B CL E G H	56270	617977	NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA AND BRAIN ABNORMALITIES WITH OR WITHOUT SEIZURES	617977	CN244929	OMIM	1	75	25072	609226
HP:0003593	HP:0003593	Infantile onset	0	WDR73 CL E G H	84942	251300	Galloway-Mowat syndrome 1	251300	CN031715	OMIM	1	220	25928	616144
HP:0003593	HP:0003593	Infantile onset	0	WDR81 CL E G H	124997	610185	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2	610185	C2750234	OMIM	1	420	26600	614218
HP:0003593	HP:0003593	Infantile onset	0	WNK1 CL E G H	65125	201300	Hereditary sensory and autonomic neuropathy type IIA	201300	C2752089	OMIM	1	1716	14540	605232
HP:0003593	HP:0003593	Infantile onset	0	YME1L1 CL E G H	10730	617302	Optic atrophy 11	617302	C4310628	OMIM	1	177	12843	607472
HP:0003593	HP:0003593	Infantile onset	0	YWHAG CL E G H	7532	617665	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 56	617665	C4540034	OMIM	1	189	12852	605356
HP:0003593	HP:0003593	Infantile onset	0	ZAP70 CL E G H	7535	617006	Autoimmune disease, multisystem, infantile-onset, 2	617006	C4310768	OMIM	1	419	12858	176947
HP:0003593	HP:0003593	Infantile onset	0	ZSWIM6 CL E G H	57688	617865	NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES	617865	CN800196	OMIM	1	659	29316	615951
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003593	HP:0003593	Infantile onset	0	RNASET2 CL E G H	8635	612951	Leukoencephalopathy, cystic, without megalencephaly	612951	C2751843	OMIM	0	199	21686	612944
HP:0003593	HP:0003593	Infantile onset	0	SPTBN2 CL E G H	6712	600224	Spinocerebellar ataxia 5	600224	C0752123	OMIM	0	938	11276	604985

Genes (411) :AASS ABCB11 ABCB4 ABCD3 ACADSB ACO2 ACOX1 ACOX2 ADAM22 ADAR ADAT3 ADD3 ADGRV1 ADK ADNP ADSL AFG3L2 AGK AIFM1 AIMP2 AKT1 ALDH5A1 ALG11 ALG13 ALS2 AMMECR1 AP1S2 AP3D1 ARFGEF2 ARV1 ASH1L ASXL2 ATAD3A ATP6AP2 ATP8B1 ATPAF2 AUH BCL10 BCS1L BLNK BOLA3 BRF1 C12ORF57 C12orf57 CA12 CAD CARD11 CAVIN1 CC2D2A CCDC115 CCT5 CD247 CD3D CD3E CD59 CD79B CDKL5 CEP104 CHD1 CHD3 CHRNA1 CHRND CHRNE CLIC5 CLPX COG2 COL6A1 COL6A2 COL6A3 COLQ COQ6 CORO1A COX10 COX15 COX4I2 CPT2 CTC1 CTDP1 CTNNB1 CUX2 CWF19L1 CXCR4 CYB5A CYP2R1 DAG1 DARS DCDC2 DCX DDC DDOST DDX3X DEAF1 DHX30 DLAT DNAAF4 DNAAF5 DOCK7 DOCK8 DPM1 EARS2 EBF3 EDC3 EEF1A2 EGR2 EIF2AK3 ELANE EPO ERCC4 ERCC6 ERCC8 EXT2 FAM126A FERMT3 FGD4 FKTN FLNA FMN2 FOXRED1 FRMD7 FRMPD4 FZD4 GABRB1 GABRB3 GAD1 GATA1 GATAD2B GATM GCH1 GDAP1 GEMIN4 GFAP GFI1B GFPT1 GJA1 GJB2 GJB3 GJC2 GLRA1 GLRB GNAS GNB1 GP6 GPAA1 GPD1 GPHN GRID2 GRIK2 GRIN1 GRIN2D GRM1 GTPBP2 HAX1 HCFC1 HEPACAM HERC2 HEXA HIBCH HIKESHI HIVEP2 HNF1A HNMT HNRNPU HSD17B10 HSD17B4 HYDIN IFT140 IGHM IGLL1 IKBKB IL21 ILDR1 IMPDH1 ISCA1 ITGA7 ITPA JAG1 JPH1 KATNB1 KCNA2 KCNB1 KCNH1 KCNJ10 KCNMA1 KCNQ2 KCNT2 KDM5B KIDINS220 KIF1A KITLG KLHL7 KRT81 KRT83 KRT86 L2HGDH LAMA3 LARGE1 LCK LIPT1 LMAN2L LMBRD1 LRP5 LRPPRC MAGEL2 MAST1 MCOLN1 MED13L METTL23 MFF MFN2 MIPEP MLC1 MMAA MMACHC MMADHC MMP2 MPV17 MPZ MRPL44 MRPS2 MRPS7 MTFMT MTOR MTR MTRR MUSK MYH7 MYMK MYO5A NAGA NDUFA10 NDUFA13 NDUFAF1 NDUFB8 NDUFB9 NDUFS1 NDUFS2 NDUFS4 NDUFV1 NDUFV2 NEB NFE2L2 NFKBIA NGF NKX6-2 NLRP12 NLRP3 NR3C2 NTRK1 OPHN1 PAK1 PARN PAX2 PCDH12 PCDH15 PCDH19 PCK1 PDE10A PDHA1 PDP1 PGAP3 PHIP PHKG2 PIGT PIK3R1 PINK1 PLA2G6 PLCG2 PLEKHG2 PLG PLP1 PMP22 PMPCA PNKD PNPLA8 POLG POMC POMK POMT1 POMT2 PRDX1 PRKCD PRKDC PRMT7 PRX PSAP PSAT1 PSPH PTPRQ PTS PUS3 QDPR RAB27A RAG1 RAG2 RASGRP2 RDX RERE RETREG1 RFT1 RNASEH2A RNASET2 ROR1 RORC RPGRIP1L RPL35A RPS19 RPS26 RPS28 RPSA RUSC2 RYR1 S1PR2 SACS SAR1B SARS2 SASH1 SCN1A SCN2A SCN3A SCN4A SCN9A SCNN1A SCNN1B SCNN1G SDHA SDHAF1 SDHD SELENON SEPSECS SFTPB SIL1 SLC10A2 SLC12A5 SLC18A2 SLC25A12 SLC25A26 SLC25A38 SLC2A1 SLC33A1 SLC34A3 SLC35A1 SLC35A2 SLC39A4 SLC46A1 SLC6A3 SLC6A5 SLC6A8 SLC7A7 SLURP1 SMPD1 SNAP29 SNX14 SOST SPECC1L SPEG SPR SPTAN1 SPTBN2 SRD5A3 STAT3 SUCLA2 SUCLG1 SURF1 SYT1 TBC1D24 TBCE TBX19 TCF3 TCTN2 TGM3 TH TIMMDC1 TK2 TLK2 TMEM67 TMTC3 TNNT1 TRAC TRAPPC9 TRIOBP TRIT1 TRMT1 TRPA1 TRPM6 TSC1 TSC2 TSHR TTI2 TTN TUBB6 TUFM TXN2 UPB1 UQCC2 UVSSA VARS VARS2 VDR VPS33A VPS45 VPS53 WAC WDR26 WDR45B WDR73 WDR81 WNK1 YME1L1 YWHAG ZAP70 ZSWIM6

Diseases (399) :238700 601847 602347 616278 610006 614559 264470 617308 617933 127400 615286 617008 604352 614300 615873 103050 614487 212350 300816 618006 176920 271980 613661 300884 607225 300990 304340 617050 608097 617020 617796 617190 617183 300423 211600 604273 250950 616098 256000 124000 613502 614299 616202 218340 143860 616457 615206 613327 216360 616828 256840 610163 615617 615615 612300 612692 300672 616781 617682 618205 608930 616321 616322 616324 608931 616042 618015 617395 254090 603034 614650 615401 612714 600649 612199 604168 615075 618141 616127 193670 250790 600081 616538 615281 617394 300067 608643 614507 300958 617171 617804 245348 615482 614874 615859 243700 608799 614924 617330 616460 616409 616393 145900 226980 202700 617911 615272 600630 614621 616682 610532 612840 609311 613152 253800 611588 300048 616193 618241 310700 300983 133780 617153 617113 603513 300835 300367 615074 612718 233910 607831 214400 617913 203450 187900 104100 602540 133200 608804 149400 614619 166350 616973 614201 617810 614480 616204 611092 614254 617162 614831 617988 610738 309541 604004 615516 272800 250620 616881 616977 600496 616739 617391 300438 261515 608647 266920 601495 613500 615592 615767 609646 180105 617613 613204 616647 118450 616212 616366 616056 611816 612780 617643 613720 617771 618109 617296 201300 145250 617055 158000 236792 245660 608840 615758 616299 616887 277380 601813 220111 615547 618273 252650 616789 615942 617086 601152 617228 251100 277400 277410 259600 256810 615395 617950 617872 618248 607341 250940 236270 616325 160500 254940 214450 609241 618243 618249 618234 618252 618245 618226 618228 252010 618225 618229 256030 617744 612132 608654 617560 611762 191900 120100 177735 256800 300486 618158 616353 120330 251280 609533 300088 261680 616921 312170 608782 615716 617991 613027 615398 615214 605909 256600 614878 616763 217090 312080 213200 118800 251950 613662 203700 609734 616094 613155 609308 613158 615559 615966 617157 611722 610992 614023 613391 261640 617051 261630 607624 233650 615888 611022 616975 612015 610333 612951 617654 616622 612528 105650 613309 606164 271400 617773 117000 610419 270550 246700 613845 127500 607208 613721 617938 614198 170500 168300 243000 264350 252011 602771 613811 265120 248800 613291 616645 618049 612949 616794 205950 606777 608885 614482 241530 603585 300896 201100 229050 613135 614618 300352 222700 248300 257200 609528 616354 122860 145410 615959 612716 613477 600224 615386 612379 147060 612073 245400 618218 605021 617207 201400 616941 616654 617251 605407 618251 609560 618050 617255 605355 615387 613192 609823 617873 618302 615040 602014 275200 615541 611705 617732 610678 616811 613161 615824 614640 617802 615917 277440 617303 615285 615851 616708 617616 617977 251300 610185 617302 617665 617006 617865

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.

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