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	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003593	HP:0003593	Infantile onset	0	AARS1 CL E G H	16	20	OMIM:616339	Epileptic encephalopathy, early infantile, 29
HP:0003593	HP:0003593	Infantile onset	0	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0003593	HP:0003593	Infantile onset	0	AARS2 CL E G H	57505	21022	OMIM:614096	Combined oxidative phosphorylation deficiency 8		143
HP:0003593	HP:0003593	Infantile onset	0	AASS CL E G H	10157	17366	OMIM:238700	Hyperlysinemia, type I	.	15
HP:0003593	HP:0003593	Infantile onset	0	ABCB11 CL E G H	8647	42	OMIM:601847	Cholestasis, progressive familial intrahepatic 2	.	146
HP:0003593	HP:0003593	Infantile onset	0	ABCB4 CL E G H	5244	45	OMIM:602347	Cholestasis, progressive familial intrahepatic, 3	.	111
HP:0003593	HP:0003593	Infantile onset	0	ABCC6 CL E G H	368	57	OMIM:614473	Arterial calcification, generalized, of infancy, 2		415
HP:0003593	HP:0003593	Infantile onset	0	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS		254
HP:0003593	HP:0003593	Infantile onset	0	ABCD3 CL E G H	5825	67	OMIM:616278	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5		5
HP:0003593	HP:0003593	Infantile onset	0	ABHD16A CL E G H	7920	13921	OMIM:619735	SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86
HP:0003593	HP:0003593	Infantile onset	0	ACADSB CL E G H	36	91	OMIM:610006	2-Methylbutyryl-Coa dehydrogenase deficiency	.	111
HP:0003593	HP:0003593	Infantile onset	0	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency		200
HP:0003593	HP:0003593	Infantile onset	0	ACO2 CL E G H	50	118	OMIM:614559	INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD		60
HP:0003593	HP:0003593	Infantile onset	0	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency	.	120
HP:0003593	HP:0003593	Infantile onset	0	ACOX2 CL E G H	8309	120	OMIM:617308	Bile acid synthesis defect, congenital, 6	.	2
HP:0003593	HP:0003593	Infantile onset	0	ACTA1 CL E G H	58	129	OMIM:616852	Myopathy, scapulohumeroperoneal		96
HP:0003593	HP:0003593	Infantile onset	0	ACTL6B CL E G H	51412	160	OMIM:618470	Intellectual developmental disorder with severe speech and ambulation defects	.	2
HP:0003593	HP:0003593	Infantile onset	0	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency		75
HP:0003593	HP:0003593	Infantile onset	0	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome		22
HP:0003593	HP:0003593	Infantile onset	0	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome		22
HP:0003593	HP:0003593	Infantile onset	0	ADAM22 CL E G H	53616	201	OMIM:617933	Epileptic encephalopathy, early infantile, 61	.
HP:0003593	HP:0003593	Infantile onset	0	ADAR CL E G H	103	225	OMIM:615010	Aicardi-Goutieres syndrome 6		116
HP:0003593	HP:0003593	Infantile onset	0	ADAR CL E G H	103	225	OMIM:127400	Dyschromatosis symmetrica hereditaria 1	.	116
HP:0003593	HP:0003593	Infantile onset	0	ADAT3 CL E G H	113179	25151	OMIM:615286	Mental retardation, autosomal recessive 36	.	9
HP:0003593	HP:0003593	Infantile onset	0	ADCY3 CL E G H	109	234	OMIM:617885	Body mass index quantitative trait locus 19
HP:0003593	HP:0003593	Infantile onset	0	ADCY5 CL E G H	111	236	OMIM:606703	Dyskinesia, familial, with facial myokymia		25
HP:0003593	HP:0003593	Infantile onset	0	ADCY5 CL E G H	111	236	OMIM:619651	NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD		25
HP:0003593	HP:0003593	Infantile onset	0	ADD3 CL E G H	120	245	OMIM:617008	Cerebral palsy, spastic quadriplegic, 3		3
HP:0003593	HP:0003593	Infantile onset	0	ADGRG1 CL E G H	9289	4512	OMIM:615752	POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE; BPPR		88
HP:0003593	HP:0003593	Infantile onset	0	ADGRV1 CL E G H	84059	17416	OMIM:604352	Febrile seizures, familial, 4	.	530
HP:0003593	HP:0003593	Infantile onset	0	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency	.	26
HP:0003593	HP:0003593	Infantile onset	0	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome	.	47
HP:0003593	HP:0003593	Infantile onset	0	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency	.	118
HP:0003593	HP:0003593	Infantile onset	0	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0003593	HP:0003593	Infantile onset	0	AFG3L2 CL E G H	10939	315	OMIM:614487	Spastic ataxia 5, autosomal recessive	.	86
HP:0003593	HP:0003593	Infantile onset	0	AGK CL E G H	55750	21869	OMIM:212350	Sengers syndrome	.	82
HP:0003593	HP:0003593	Infantile onset	0	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0003593	HP:0003593	Infantile onset	0	AGTPBP1 CL E G H	23287	17258	OMIM:618276	Neurodegeneration, childhood-onset, with cerebellar atrophy		1
HP:0003593	HP:0003593	Infantile onset	0	AGXT CL E G H	189	341	OMIM:259900	Hyperoxaluria, primary, type I		260
HP:0003593	HP:0003593	Infantile onset	0	AIFM1 CL E G H	9131	8768	OMIM:300816	Combined oxidative phosphorylation deficiency 6	.	60
HP:0003593	HP:0003593	Infantile onset	0	AIMP2 CL E G H	7965	20609	OMIM:618006	Leukodystrophy, hypomyelinating, 17	.	1
HP:0003593	HP:0003593	Infantile onset	0	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic	.	54
HP:0003593	HP:0003593	Infantile onset	0	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive		89
HP:0003593	HP:0003593	Infantile onset	0	ALDH5A1 CL E G H	7915	408	OMIM:271980	Succinic semialdehyde dehydrogenase deficiency		108
HP:0003593	HP:0003593	Infantile onset	0	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII		50
HP:0003593	HP:0003593	Infantile onset	0	ALG11 CL E G H	440138	32456	OMIM:613661	Congenital disorder of glycosylation, type Ip	.	41
HP:0003593	HP:0003593	Infantile onset	0	ALG13 CL E G H	79868	30881	OMIM:300884	Epileptic encephalopathy, early infantile, 36	.	96
HP:0003593	HP:0003593	Infantile onset	0	ALG14 CL E G H	199857	28287	OMIM:619031	INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES; IDDEBF		12
HP:0003593	HP:0003593	Infantile onset	0	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii		46
HP:0003593	HP:0003593	Infantile onset	0	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih		46
HP:0003593	HP:0003593	Infantile onset	0	ALPK3 CL E G H	57538	17574	OMIM:618052	Cardiomyopathy, familial hypertrophic 27		89
HP:0003593	HP:0003593	Infantile onset	0	ALS2 CL E G H	57679	443	OMIM:607225	Spastic paralysis, infantile-onset ascending	.	114
HP:0003593	HP:0003593	Infantile onset	0	AMBN CL E G H	258	452	OMIM:616270	AMELOGENESIS IMPERFECTA, TYPE IF; AI1F		2
HP:0003593	HP:0003593	Infantile onset	0	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis	.	2
HP:0003593	HP:0003593	Infantile onset	0	AMTN CL E G H	401138	33188	OMIM:617607	AMELOGENESIS IMPERFECTA, TYPE IIIB; AI3B		1
HP:0003593	HP:0003593	Infantile onset	0	ANAPC7 CL E G H	51434	17380	OMIM:619699	FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME; FERBON
HP:0003593	HP:0003593	Infantile onset	0	ANGPT2 CL E G H	285	485	OMIM:619369	LYMPHATIC MALFORMATION 10; LMPHM10
HP:0003593	HP:0003593	Infantile onset	0	ANK1 CL E G H	286	492	OMIM:182900	Spherocytosis, type 1		150
HP:0003593	HP:0003593	Infantile onset	0	ANKS6 CL E G H	203286	26724	OMIM:615382	Nephronophthisis 16		32
HP:0003593	HP:0003593	Infantile onset	0	ANOS1 CL E G H	3730	6211	OMIM:308700	Hypogonadotropic hypogonadism 1 with or without anosmia		65
HP:0003593	HP:0003593	Infantile onset	0	ANTXR1 CL E G H	84168	21014	OMIM:602089	Hemangioma, capillary infantile		8
HP:0003593	HP:0003593	Infantile onset	0	ANTXR2 CL E G H	118429	21732	OMIM:228600	Hyaline fibromatosis syndrome		49
HP:0003593	HP:0003593	Infantile onset	0	AP1S2 CL E G H	8905	560	OMIM:304340	Pettigrew syndrome	.	13
HP:0003593	HP:0003593	Infantile onset	0	AP3B2 CL E G H	8120	567	OMIM:617276	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE48		7
HP:0003593	HP:0003593	Infantile onset	0	APC2 CL E G H	10297	24036	OMIM:618677	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10; CDCBM10		1
HP:0003593	HP:0003593	Infantile onset	0	APC2 CL E G H	10297	24036	OMIM:617169	Sotos syndrome 3		1
HP:0003593	HP:0003593	Infantile onset	0	APOB CL E G H	338	603	OMIM:615558	Hypobetalipoproteinemia, familial, 1		356
HP:0003593	HP:0003593	Infantile onset	0	ARFGEF1 CL E G H	10565	15772	OMIM:619964
HP:0003593	HP:0003593	Infantile onset	0	ARFGEF2 CL E G H	10564	15853	OMIM:608097	Periventricular heterotopia with microcephaly, autosomal recessive	.	179
HP:0003593	HP:0003593	Infantile onset	0	ARPC1B CL E G H	10095	704	OMIM:617718	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
HP:0003593	HP:0003593	Infantile onset	0	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0003593	HP:0003593	Infantile onset	0	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI		120
HP:0003593	HP:0003593	Infantile onset	0	ARV1 CL E G H	64801	29561	OMIM:617020	Epileptic encephalopathy, early infantile, 38	.	3
HP:0003593	HP:0003593	Infantile onset	0	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52	.	1
HP:0003593	HP:0003593	Infantile onset	0	ASNS CL E G H	440	753	OMIM:615574	Asparagine synthetase deficiency		17
HP:0003593	HP:0003593	Infantile onset	0	ASPA CL E G H	443	756	OMIM:271900	Canavan disease		48
HP:0003593	HP:0003593	Infantile onset	0	ASS1 CL E G H	445	758	OMIM:215700	Citrullinemia, classic		119
HP:0003593	HP:0003593	Infantile onset	0	ATAD3A CL E G H	55210	25567	OMIM:617183	Harel-Yoon syndrome	.	5
HP:0003593	HP:0003593	Infantile onset	0	ATG5 CL E G H	9474	589	OMIM:617584	Spinocerebellar ataxia, autosomal recessive 25		1
HP:0003593	HP:0003593	Infantile onset	0	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31		1
HP:0003593	HP:0003593	Infantile onset	0	ATP13A3 CL E G H	79572	24113	OMIM:265400	Pulmonary hypertension, primary, autosomal recessive
HP:0003593	HP:0003593	Infantile onset	0	ATP1A1 CL E G H	476	799	OMIM:618314	Hypomagnesemia, seizures, and mental retardation 2		4
HP:0003593	HP:0003593	Infantile onset	0	ATP1A2 CL E G H	477	800	OMIM:619605	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98		239
HP:0003593	HP:0003593	Infantile onset	0	ATP1A3 CL E G H	478	801	OMIM:601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss		150
HP:0003593	HP:0003593	Infantile onset	0	ATP1A3 CL E G H	478	801	OMIM:619606	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99		150
HP:0003593	HP:0003593	Infantile onset	0	ATP2B1 CL E G H	490	814	OMIM:619910
HP:0003593	HP:0003593	Infantile onset	0	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47		5
HP:0003593	HP:0003593	Infantile onset	0	ATP6AP2 CL E G H	10159	18305	OMIM:301045	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R		36
HP:0003593	HP:0003593	Infantile onset	0	ATP6AP2 CL E G H	10159	18305	OMIM:300423	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH		36
HP:0003593	HP:0003593	Infantile onset	0	ATP6V0A1 CL E G H	535	865	OMIM:619971			1
HP:0003593	HP:0003593	Infantile onset	0	ATP6V0A1 CL E G H	535	865	OMIM:619970			1
HP:0003593	HP:0003593	Infantile onset	0	ATP6V0A4 CL E G H	50617	866	OMIM:602722	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR		64
HP:0003593	HP:0003593	Infantile onset	0	ATP6V1B2 CL E G H	526	854	OMIM:616455	Zimmermann-Laband syndrome 2		5
HP:0003593	HP:0003593	Infantile onset	0	ATP7A CL E G H	538	869	OMIM:309400	Menkes disease		192
HP:0003593	HP:0003593	Infantile onset	0	ATP8B1 CL E G H	5205	3706	OMIM:211600	Cholestasis, progressive familial intrahepatic 1		144
HP:0003593	HP:0003593	Infantile onset	0	ATR CL E G H	545	882	OMIM:614564	Cutaneous telangiectasia and cancer syndrome, familial		168
HP:0003593	HP:0003593	Infantile onset	0	AUH CL E G H	549	890	OMIM:250950	3-methylglutaconic aciduria, type I		49
HP:0003593	HP:0003593	Infantile onset	0	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26		61
HP:0003593	HP:0003593	Infantile onset	0	B3GALNT2 CL E G H	148789	28596	OMIM:615181	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11		43
HP:0003593	HP:0003593	Infantile onset	0	BAAT CL E G H	570	932	OMIM:619232	BILE ACID CONJUGATION DEFECT 1; BACD1		63
HP:0003593	HP:0003593	Infantile onset	0	BCAS3 CL E G H	54828	14347	OMIM:619641	HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS		2
HP:0003593	HP:0003593	Infantile onset	0	BCL10 CL E G H	8915	989	OMIM:616098	IMMUNODEFICIENCY 37; IMD37		18
HP:0003593	HP:0003593	Infantile onset	0	BCORL1 CL E G H	63035	25657	OMIM:301029	Shukla-Vernon syndrome	.	17
HP:0003593	HP:0003593	Infantile onset	0	BCS1L CL E G H	617	1020	OMIM:262000	Bjornstad syndrome		72
HP:0003593	HP:0003593	Infantile onset	0	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant		46
HP:0003593	HP:0003593	Infantile onset	0	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome		314
HP:0003593	HP:0003593	Infantile onset	0	BLNK CL E G H	29760	14211	OMIM:613502	Agammaglobulinemia 4, autosomal recessive	.	4
HP:0003593	HP:0003593	Infantile onset	0	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia	.	14
HP:0003593	HP:0003593	Infantile onset	0	BRAT1 CL E G H	221927	21701	OMIM:618056	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures	.	20
HP:0003593	HP:0003593	Infantile onset	0	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal		20
HP:0003593	HP:0003593	Infantile onset	0	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome	.	7
HP:0003593	HP:0003593	Infantile onset	0	BRWD3 CL E G H	254065	17342	OMIM:300659	MENTAL RETARDATION, X-LINKED 93; MRX93		104
HP:0003593	HP:0003593	Infantile onset	0	BTD CL E G H	686	1122	OMIM:253260	Biotinidase deficiencymultiple carboxylase deficiency, late-onset		223
HP:0003593	HP:0003593	Infantile onset	0	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0003593	HP:0003593	Infantile onset	0	C12ORF57 CL E G H	113246	29521	OMIM:218340	Temtamy syndrome	.	13
HP:0003593	HP:0003593	Infantile onset	0	C2ORF69 CL E G H	205327	26799	OMIM:619423	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53
HP:0003593	HP:0003593	Infantile onset	0	C3 CL E G H	718	1318	OMIM:613779	Complement component 3 deficiency, autosomal recessive		92
HP:0003593	HP:0003593	Infantile onset	0	C3 CL E G H	718	1318	OMIM:612925	Hemolytic uremic syndrome, atypical, susceptibility to, 5		92
HP:0003593	HP:0003593	Infantile onset	0	C4B CL E G H	721	1324	OMIM:614379	Complement component 4B deficiency		1
HP:0003593	HP:0003593	Infantile onset	0	CA12 CL E G H	771	1371	OMIM:143860	Hyperchlorhidrosis, isolated	.	4
HP:0003593	HP:0003593	Infantile onset	0	CACNA1C CL E G H	775	1390	OMIM:620029			572
HP:0003593	HP:0003593	Infantile onset	0	CACNA1H CL E G H	8912	1395	OMIM:617027	Hyperaldosteronism, familial, type IV		75
HP:0003593	HP:0003593	Infantile onset	0	CACNA1S CL E G H	779	1397	OMIM:170400	Hypokalemic periodic paralysis, type 1		247
HP:0003593	HP:0003593	Infantile onset	0	CACNA2D2 CL E G H	9254	1400	OMIM:618501	Cerebellar atrophy with seizures and variable developmental delay	.	48
HP:0003593	HP:0003593	Infantile onset	0	CAD CL E G H	790	1424	OMIM:616457	Epileptic encephalopathy, early infantile, 50	.	10
HP:0003593	HP:0003593	Infantile onset	0	CADM3 CL E G H	57863	17601	OMIM:619519	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF		1
HP:0003593	HP:0003593	Infantile onset	0	CALM1 CL E G H	801	1442	OMIM:616247	Long QT syndrome 14		18
HP:0003593	HP:0003593	Infantile onset	0	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53		1
HP:0003593	HP:0003593	Infantile onset	0	CAMK2A CL E G H	815	1460	OMIM:618095	Mental retardation, autosomal recessive 63		1
HP:0003593	HP:0003593	Infantile onset	0	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0003593	HP:0003593	Infantile onset	0	CAMK2G CL E G H	818	1463	OMIM:618522	Intellectual developmental disorder 59		1
HP:0003593	HP:0003593	Infantile onset	0	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation		34
HP:0003593	HP:0003593	Infantile onset	0	CARD11 CL E G H	84433	16393	OMIM:615206	Card11 immunodeficiency	.	45
HP:0003593	HP:0003593	Infantile onset	0	CARD14 CL E G H	79092	16446	OMIM:173200	Pityriasis rubra pilaris		33
HP:0003593	HP:0003593	Infantile onset	0	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0003593	HP:0003593	Infantile onset	0	CARS2 CL E G H	79587	25695	OMIM:616672	Combined oxidative phosphorylation deficiency 27		35
HP:0003593	HP:0003593	Infantile onset	0	CASK CL E G H	8573	1497	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency		118
HP:0003593	HP:0003593	Infantile onset	0	CAV1 CL E G H	857	1527	OMIM:612526	Lipodystrophy, congenital generalized, type 3	.	11
HP:0003593	HP:0003593	Infantile onset	0	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4	.	48
HP:0003593	HP:0003593	Infantile onset	0	CCDC115 CL E G H	84317	28178	OMIM:616828	Congenital disorder of glycosylation, type IIO	.	3
HP:0003593	HP:0003593	Infantile onset	0	CCDC39 CL E G H	339829	25244	OMIM:613807	Ciliary dyskinesia, primary, 14		126
HP:0003593	HP:0003593	Infantile onset	0	CCDC65 CL E G H	85478	29937	OMIM:615504	Ciliary dyskinesia, primary, 27		23
HP:0003593	HP:0003593	Infantile onset	0	CD164 CL E G H	8763	1632	OMIM:616969	DEAFNESS, AUTOSOMAL DOMINANT 66; DFNA66		1
HP:0003593	HP:0003593	Infantile onset	0	CD19 CL E G H	930	1633	OMIM:613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3		38
HP:0003593	HP:0003593	Infantile onset	0	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0003593	HP:0003593	Infantile onset	0	CD320 CL E G H	51293	16692	OMIM:613646	METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT		16
HP:0003593	HP:0003593	Infantile onset	0	CD3D CL E G H	915	1673	OMIM:615617	Immunodeficiency 19	.	18
HP:0003593	HP:0003593	Infantile onset	0	CD3E CL E G H	916	1674	OMIM:615615	Immunodeficiency 18	.	24
HP:0003593	HP:0003593	Infantile onset	0	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17		19
HP:0003593	HP:0003593	Infantile onset	0	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM		33
HP:0003593	HP:0003593	Infantile onset	0	CD59 CL E G H	966	1689	OMIM:612300	Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy	.	3
HP:0003593	HP:0003593	Infantile onset	0	CD79B CL E G H	974	1699	OMIM:612692	Agammaglobulinemia 6, autosomal recessive	.	6
HP:0003593	HP:0003593	Infantile onset	0	CDKL5 CL E G H	6792	11411	OMIM:300672	Developmental and epileptic encephalopathy 2		405
HP:0003593	HP:0003593	Infantile onset	0	CELF2 CL E G H	10659	2550	OMIM:619561	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97; DEE97
HP:0003593	HP:0003593	Infantile onset	0	CEP104 CL E G H	9731	24866	OMIM:619988			5
HP:0003593	HP:0003593	Infantile onset	0	CEP104 CL E G H	9731	24866	OMIM:616781	Joubert syndrome 25	.	5
HP:0003593	HP:0003593	Infantile onset	0	CERS1 CL E G H	10715	14253	OMIM:616230	Epilepsy, progressive myoclonic, 8		1
HP:0003593	HP:0003593	Infantile onset	0	CFAP410 CL E G H	755	1260	OMIM:602271	Spondylometaphyseal dysplasia, axial
HP:0003593	HP:0003593	Infantile onset	0	CFI CL E G H	3426	5394	OMIM:610984	Complement factor I deficiency		57
HP:0003593	HP:0003593	Infantile onset	0	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis		1371
HP:0003593	HP:0003593	Infantile onset	0	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40		16
HP:0003593	HP:0003593	Infantile onset	0	CHD1 CL E G H	1105	1915	OMIM:617682	Pilarowski-Bjornsson syndrome	.	2
HP:0003593	HP:0003593	Infantile onset	0	CHD2 CL E G H	1106	1917	OMIM:615369	EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET; EEOC		227
HP:0003593	HP:0003593	Infantile onset	0	CHD3 CL E G H	1107	1918	OMIM:618205	Snijders blok-campeau syndrome	.	2
HP:0003593	HP:0003593	Infantile onset	0	CHD5 CL E G H	26038	16816	OMIM:619873
HP:0003593	HP:0003593	Infantile onset	0	CHD8 CL E G H	57680	20153	OMIM:615032	AUTISM, SUSCEPTIBILITY TO, 18; AUTS18		72
HP:0003593	HP:0003593	Infantile onset	0	CHKA CL E G H	1119	1937	OMIM:620023
HP:0003593	HP:0003593	Infantile onset	0	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8		19
HP:0003593	HP:0003593	Infantile onset	0	CHRNA1 CL E G H	1134	1955	OMIM:601462	Myasthenic syndrome, congenital, 1A, slow-channel		74
HP:0003593	HP:0003593	Infantile onset	0	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel	.	74
HP:0003593	HP:0003593	Infantile onset	0	CHRND CL E G H	1144	1965	OMIM:616321	Myasthenic syndrome, congenital, 3A, slow-channel	.	88
HP:0003593	HP:0003593	Infantile onset	0	CHRND CL E G H	1144	1965	OMIM:616322	Myasthenic syndrome, congenital, 3B, fast-channel	.	88
HP:0003593	HP:0003593	Infantile onset	0	CHRNE CL E G H	1145	1966	OMIM:616324	Myasthenic syndrome, congenital, 4B, fast-channel	.	139
HP:0003593	HP:0003593	Infantile onset	0	CHRNE CL E G H	1145	1966	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency	.	139
HP:0003593	HP:0003593	Infantile onset	0	CIC CL E G H	23152	14214	OMIM:617600	Mental retardation, autosomal dominant 45		39
HP:0003593	HP:0003593	Infantile onset	0	CLCN3 CL E G H	1182	2021	OMIM:619517	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA		2
HP:0003593	HP:0003593	Infantile onset	0	CLCN4 CL E G H	1183	2022	OMIM:300114	Raynaud-Claes syndrome		45
HP:0003593	HP:0003593	Infantile onset	0	CLCN7 CL E G H	1186	2025	OMIM:611490	Osteopetrosis, autosomal recessive 4		102
HP:0003593	HP:0003593	Infantile onset	0	CLDN11 CL E G H	5010	8514	OMIM:619328	Leukodystrophy, hypomyelinating, 22
HP:0003593	HP:0003593	Infantile onset	0	CLMP CL E G H	79827	24039	OMIM:615237	Congenital short bowel syndrome		7
HP:0003593	HP:0003593	Infantile onset	0	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia		38
HP:0003593	HP:0003593	Infantile onset	0	CLPB CL E G H	81570	30664	OMIM:619835	3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA; MGCA7A		38
HP:0003593	HP:0003593	Infantile onset	0	CLPB CL E G H	81570	30664	OMIM:619813	NEUTROPENIA, SEVERE CONGENITAL, 9, AUTOSOMAL DOMINANT; SCN9		38
HP:0003593	HP:0003593	Infantile onset	0	CLPX CL E G H	10845	2088	OMIM:618015	Protoporphyria, erythropoietic, 2	.
HP:0003593	HP:0003593	Infantile onset	0	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56		1
HP:0003593	HP:0003593	Infantile onset	0	CNNM4 CL E G H	26504	105	OMIM:217080	Jalili syndrome		61
HP:0003593	HP:0003593	Infantile onset	0	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0003593	HP:0003593	Infantile onset	0	CNPY3 CL E G H	10695	11968	OMIM:617929	Epileptic encephalopathy, early infantile, 60
HP:0003593	HP:0003593	Infantile onset	0	COG2 CL E G H	22796	6546	OMIM:617395	Congenital disorder of glycosylation, type IIq	.	2
HP:0003593	HP:0003593	Infantile onset	0	COL12A1 CL E G H	1303	2188	OMIM:616470	ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD2		65
HP:0003593	HP:0003593	Infantile onset	0	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies		193
HP:0003593	HP:0003593	Infantile onset	0	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	442
HP:0003593	HP:0003593	Infantile onset	0	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	478
HP:0003593	HP:0003593	Infantile onset	0	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	702
HP:0003593	HP:0003593	Infantile onset	0	COL7A1 CL E G H	1294	2214	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive		263
HP:0003593	HP:0003593	Infantile onset	0	COLQ CL E G H	8292	2226	OMIM:603034	Myasthenic syndrome, congenital, 5	.	90
HP:0003593	HP:0003593	Infantile onset	0	COPB1 CL E G H	1315	2231	OMIM:619255	BARALLE-MACKEN SYNDROME; BARMACS
HP:0003593	HP:0003593	Infantile onset	0	COPB2 CL E G H	9276	2232	OMIM:619884
HP:0003593	HP:0003593	Infantile onset	0	COQ2 CL E G H	27235	25223	OMIM:607426	Coenzyme Q10 deficiency, primary, 1		54
HP:0003593	HP:0003593	Infantile onset	0	COQ6 CL E G H	51004	20233	OMIM:614650	Coenzyme Q10 deficiency, primary, 6	.	39
HP:0003593	HP:0003593	Infantile onset	0	CORO1A CL E G H	11151	2252	OMIM:615401	Immunodeficiency 8	.	7
HP:0003593	HP:0003593	Infantile onset	0	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3		82
HP:0003593	HP:0003593	Infantile onset	0	COX4I2 CL E G H	84701	16232	OMIM:612714	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis	.	13
HP:0003593	HP:0003593	Infantile onset	0	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0003593	HP:0003593	Infantile onset	0	COX6A2 CL E G H	1339	2279	OMIM:619062	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18; MC4DN18
HP:0003593	HP:0003593	Infantile onset	0	CPLANE1 CL E G H	65250	25801	OMIM:614615	Joubert syndrome 17
HP:0003593	HP:0003593	Infantile onset	0	CPLX1 CL E G H	10815	2309	OMIM:617976	Epileptic encephalopathy, early infantile, 63	.	1
HP:0003593	HP:0003593	Infantile onset	0	CPSF3 CL E G H	51692	2326	OMIM:619876
HP:0003593	HP:0003593	Infantile onset	0	CPT2 CL E G H	1376	2330	OMIM:600649	Carnitine palmitoyltransferase II deficiency, infantile	.	101
HP:0003593	HP:0003593	Infantile onset	0	CRB1 CL E G H	23418	2343	OMIM:613835	Leber congenital amaurosis 8		156
HP:0003593	HP:0003593	Infantile onset	0	CRB2 CL E G H	286204	18688	OMIM:616220	Focal segmental glomerulosclerosis 9		12
HP:0003593	HP:0003593	Infantile onset	0	CRBN CL E G H	51185	30185	OMIM:607417	Mental retardation, autosomal recessive 2		19
HP:0003593	HP:0003593	Infantile onset	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0003593	HP:0003593	Infantile onset	0	CRX CL E G H	1406	2383	OMIM:613829	Leber congenital amaurosis 7		158
HP:0003593	HP:0003593	Infantile onset	0	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts	.	160
HP:0003593	HP:0003593	Infantile onset	0	CTDP1 CL E G H	9150	2498	OMIM:604168	Congenital cataracts, facial dysmorphism, and neuropathy	.	17
HP:0003593	HP:0003593	Infantile onset	0	CTNNB1 CL E G H	1499	2514	OMIM:615075	Neurodevelopmental disorder with spastic diplegia and visual defects	.	88
HP:0003593	HP:0003593	Infantile onset	0	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic		178
HP:0003593	HP:0003593	Infantile onset	0	CUL3 CL E G H	8452	2553	OMIM:619239	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS		92
HP:0003593	HP:0003593	Infantile onset	0	CUX2 CL E G H	23316	19347	OMIM:618141	Epileptic encephalopathy, early infantile, 67	.
HP:0003593	HP:0003593	Infantile onset	0	CWF19L1 CL E G H	55280	25613	OMIM:616127	Spinocerebellar ataxia, autosomal recessive 17	.	9
HP:0003593	HP:0003593	Infantile onset	0	CXCR4 CL E G H	7852	2561	OMIM:193670	Whim syndrome	.	9
HP:0003593	HP:0003593	Infantile onset	0	CYB561 CL E G H	1534	2571	OMIM:618182	Orthostatic hypotension 2
HP:0003593	HP:0003593	Infantile onset	0	CYB5A CL E G H	1528	2570	OMIM:250790	Methemoglobinemia and ambiguous genitalia	.	2
HP:0003593	HP:0003593	Infantile onset	0	CYC1 CL E G H	1537	2579	OMIM:615453	Mitochondrial complex III deficiency, nuclear type 6		12
HP:0003593	HP:0003593	Infantile onset	0	CYP1B1 CL E G H	1545	2597	OMIM:231300	Glaucoma 3, primary congenital, A		101
HP:0003593	HP:0003593	Infantile onset	0	CYP2R1 CL E G H	120227	20580	OMIM:600081	Vitamin D hydroxylation-deficient rickets, type 1B	.	5
HP:0003593	HP:0003593	Infantile onset	0	CYP2U1 CL E G H	113612	20582	OMIM:615030	Spastic paraplegia 56, autosomal recessive		18
HP:0003593	HP:0003593	Infantile onset	0	D2HGDH CL E G H	728294	28358	OMIM:600721	D-2-Hydroxyglutaric aciduria 1		102
HP:0003593	HP:0003593	Infantile onset	0	DAG1 CL E G H	1605	2666	OMIM:616538	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9	.	108
HP:0003593	HP:0003593	Infantile onset	0	DARS1 CL E G H	1615	2678	OMIM:615281	HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0003593	HP:0003593	Infantile onset	0	DBR1 CL E G H	51163	15594	OMIM:619441	ENCEPHALITIS, ACUTE, INFECTION (VIRAL)-INDUCED, SUSCEPTIBILITY TO, 11; IIAE11
HP:0003593	HP:0003593	Infantile onset	0	DCC CL E G H	1630	2701	OMIM:617542	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2; HGPPS2		36
HP:0003593	HP:0003593	Infantile onset	0	DCDC2 CL E G H	51473	18141	OMIM:617394	Sclerosing cholangitis, neonatal	.	8
HP:0003593	HP:0003593	Infantile onset	0	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation		94
HP:0003593	HP:0003593	Infantile onset	0	DCX CL E G H	1641	2714	OMIM:300067	Lissencephaly, X-linked, 1	.	145
HP:0003593	HP:0003593	Infantile onset	0	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0003593	HP:0003593	Infantile onset	0	DDC CL E G H	1644	2719	OMIM:608643	Aromatic L-amino acid decarboxylase deficiency	.	43
HP:0003593	HP:0003593	Infantile onset	0	DDHD1 CL E G H	80821	19714	OMIM:609340	Spastic paraplegia 28, autosomal recessive		35
HP:0003593	HP:0003593	Infantile onset	0	DDOST CL E G H	1650	2728	OMIM:614507	Congenital disorder of glycosylation, type IR	.	62
HP:0003593	HP:0003593	Infantile onset	0	DDX3X CL E G H	1654	2745	OMIM:300958	MENTAL RETARDATION, X-LINKED 102; MRX102		57
HP:0003593	HP:0003593	Infantile onset	0	DEAF1 CL E G H	10522	14677	OMIM:617171	Dyskinesia, seizures, and intellectual developmental disorder	.	33
HP:0003593	HP:0003593	Infantile onset	0	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0003593	HP:0003593	Infantile onset	0	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)		57
HP:0003593	HP:0003593	Infantile onset	0	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment	.
HP:0003593	HP:0003593	Infantile onset	0	DHX30 CL E G H	22907	16716	OMIM:617804	Neurodevelopmental disorder with severe motor impairment and absent language	.	4
HP:0003593	HP:0003593	Infantile onset	0	DIP2B CL E G H	57609	29284	OMIM:136630	Mental retardation, Fra12a type		4
HP:0003593	HP:0003593	Infantile onset	0	DLAT CL E G H	1737	2896	OMIM:245348	Pyruvate dehydrogenase E2 deficiency	.	82
HP:0003593	HP:0003593	Infantile onset	0	DLD CL E G H	1738	2898	OMIM:246900	Dihydrolipoamide dehydrogenase deficiency		89
HP:0003593	HP:0003593	Infantile onset	0	DLG4 CL E G H	1742	2903	OMIM:618793	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62; MRD62		2
HP:0003593	HP:0003593	Infantile onset	0	DNAAF4 CL E G H	161582	21493	OMIM:615482	Ciliary dyskinesia, primary, 25	.	27
HP:0003593	HP:0003593	Infantile onset	0	DNAAF5 CL E G H	54919	26013	OMIM:614874	Ciliary dyskinesia, primary, 18	.	62
HP:0003593	HP:0003593	Infantile onset	0	DNAH5 CL E G H	1767	2950	OMIM:608644	CILIARY DYSKINESIA, PRIMARY, 3; CILD3		527
HP:0003593	HP:0003593	Infantile onset	0	DNM2 CL E G H	1785	2974	OMIM:160150	Myopathy, centronuclear, autosomal dominant		167
HP:0003593	HP:0003593	Infantile onset	0	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40		6
HP:0003593	HP:0003593	Infantile onset	0	DOCK3 CL E G H	1795	2989	OMIM:618292	Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia		3
HP:0003593	HP:0003593	Infantile onset	0	DOCK7 CL E G H	85440	19190	OMIM:615859	Epileptic encephalopathy, early infantile, 23	.	11
HP:0003593	HP:0003593	Infantile onset	0	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive	.	217
HP:0003593	HP:0003593	Infantile onset	0	DOLK CL E G H	22845	23406	OMIM:610768	Congenital disorder of glycosylation, type Im		55
HP:0003593	HP:0003593	Infantile onset	0	DPAGT1 CL E G H	1798	2995	OMIM:614750	Myasthenic syndrome, congenital, 13, with tubular aggregates		38
HP:0003593	HP:0003593	Infantile onset	0	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0003593	HP:0003593	Infantile onset	0	DPH2 CL E G H	1802	3004	OMIM:620062
HP:0003593	HP:0003593	Infantile onset	0	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE	.	27
HP:0003593	HP:0003593	Infantile onset	0	DPYD CL E G H	1806	3012	OMIM:274270	Dihydropyrimidine dehydrogenase deficiency		144
HP:0003593	HP:0003593	Infantile onset	0	DRC1 CL E G H	92749	24245	OMIM:615294	CILIARY DYSKINESIA, PRIMARY, 21; CILD21		44
HP:0003593	HP:0003593	Infantile onset	0	DSC3 CL E G H	1825	3037	OMIM:613102	HYPOTRICHOSIS AND RECURRENT SKIN VESICLES		2
HP:0003593	HP:0003593	Infantile onset	0	DST CL E G H	667	1090	OMIM:615425	Epidermolysis bullosa simplex, autosomal recessive 2		108
HP:0003593	HP:0003593	Infantile onset	0	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0003593	HP:0003593	Infantile onset	0	DUT CL E G H	1854	3078	OMIM:620044
HP:0003593	HP:0003593	Infantile onset	0	DYNC1H1 CL E G H	1778	2961	OMIM:614563	Mental retardation, autosomal dominant 13		427
HP:0003593	HP:0003593	Infantile onset	0	DYNC1I2 CL E G H	1781	2964	OMIM:618492	Neurodevelopmental disorder with microcephaly and structural brain anomalies	.	1
HP:0003593	HP:0003593	Infantile onset	0	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7		134
HP:0003593	HP:0003593	Infantile onset	0	DZIP1L CL E G H	199221	26551	OMIM:617610	Polycystic kidney disease 5		4
HP:0003593	HP:0003593	Infantile onset	0	EARS2 CL E G H	124454	29419	OMIM:614924	Combined oxidative phosphorylation deficiency 12	.	80
HP:0003593	HP:0003593	Infantile onset	0	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0003593	HP:0003593	Infantile onset	0	ECM1 CL E G H	1893	3153	OMIM:247100	Urbach-Wiethe disease		14
HP:0003593	HP:0003593	Infantile onset	0	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked		115
HP:0003593	HP:0003593	Infantile onset	0	EDC3 CL E G H	80153	26114	OMIM:616460	Mental retardation, autosomal recessive 50	.	1
HP:0003593	HP:0003593	Infantile onset	0	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0003593	HP:0003593	Infantile onset	0	EEF1A2 CL E G H	1917	3192	OMIM:616409	Epileptic encephalopathy, early infantile, 33	.	60
HP:0003593	HP:0003593	Infantile onset	0	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2		1
HP:0003593	HP:0003593	Infantile onset	0	EGR2 CL E G H	1959	3239	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.	58
HP:0003593	HP:0003593	Infantile onset	0	EHHADH CL E G H	1962	3247	OMIM:615605	Fanconi renotubular syndrome 3		2
HP:0003593	HP:0003593	Infantile onset	0	EIF2AK1 CL E G H	27102	24921	OMIM:618878	LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME; LEMSPAD
HP:0003593	HP:0003593	Infantile onset	0	EIF2AK2 CL E G H	5610	9437	OMIM:618877	LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0003593	HP:0003593	Infantile onset	0	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus	.	65
HP:0003593	HP:0003593	Infantile onset	0	EIF3F CL E G H	8665	3275	OMIM:618295	Intellectual developmental disorder, autosomal recessive 67
HP:0003593	HP:0003593	Infantile onset	0	ELANE CL E G H	1991	3309	OMIM:202700	Neutropenia, severe congenital, 1, autosomal dominant		79
HP:0003593	HP:0003593	Infantile onset	0	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2		1
HP:0003593	HP:0003593	Infantile onset	0	ELOVL1 CL E G H	64834	14418	OMIM:618527	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0003593	HP:0003593	Infantile onset	0	ELP2 CL E G H	55250	18248	OMIM:617270	Mental retardation, autosomal recessive 58		6
HP:0003593	HP:0003593	Infantile onset	0	ENPP1 CL E G H	5167	3356	OMIM:615522	Cole disease		151
HP:0003593	HP:0003593	Infantile onset	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0003593	HP:0003593	Infantile onset	0	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2		250
HP:0003593	HP:0003593	Infantile onset	0	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0003593	HP:0003593	Infantile onset	0	EPHB4 CL E G H	2050	3395	OMIM:618196	Capillary malformation-arteriovenous malformation 2		3
HP:0003593	HP:0003593	Infantile onset	0	EPO CL E G H	2056	3415	OMIM:617911	DIAMOND-BLACKFAN ANEMIA-LIKE; DBAL		1
HP:0003593	HP:0003593	Infantile onset	0	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15
HP:0003593	HP:0003593	Infantile onset	0	ERBB2 CL E G H	2064	3430	OMIM:619465	VISCERAL NEUROPATHY, FAMILIAL, 2, AUTOSOMAL RECESSIVE; VSCN2		77
HP:0003593	HP:0003593	Infantile onset	0	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4		20
HP:0003593	HP:0003593	Infantile onset	0	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive		106
HP:0003593	HP:0003593	Infantile onset	0	ERCC5 CL E G H	2073	3437	OMIM:278780	Xeroderma pigmentosum, complementation group G		83
HP:0003593	HP:0003593	Infantile onset	0	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B		199
HP:0003593	HP:0003593	Infantile onset	0	ERCC6 CL E G H	2074	3438	OMIM:600630	Uv-Sensitive syndrome 1	.	199
HP:0003593	HP:0003593	Infantile onset	0	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A		55
HP:0003593	HP:0003593	Infantile onset	0	ERCC8 CL E G H	1161	3439	OMIM:614621	UV-sensitive syndrome 2	.	55
HP:0003593	HP:0003593	Infantile onset	0	ERF CL E G H	2077	3444	OMIM:600775	Craniosynostosis 4		12
HP:0003593	HP:0003593	Infantile onset	0	ETHE1 CL E G H	23474	23287	OMIM:602473	Encephalopathy, ethylmalonic		42
HP:0003593	HP:0003593	Infantile onset	0	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH		1
HP:0003593	HP:0003593	Infantile onset	0	EXOC7 CL E G H	23265	23214	OMIM:619072	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY; NEDSEBA
HP:0003593	HP:0003593	Infantile onset	0	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0003593	HP:0003593	Infantile onset	0	EXOSC8 CL E G H	11340	17035	OMIM:616081	Pontocerebellar hypoplasia, type 1C		4
HP:0003593	HP:0003593	Infantile onset	0	EXT2 CL E G H	2132	3513	OMIM:133701	Exostoses, multiple, type II		102
HP:0003593	HP:0003593	Infantile onset	0	EXT2 CL E G H	2132	3513	OMIM:616682	Seizures, scoliosis, and macrocephaly/microcephaly syndrome	.	102
HP:0003593	HP:0003593	Infantile onset	0	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB		58
HP:0003593	HP:0003593	Infantile onset	0	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L		53
HP:0003593	HP:0003593	Infantile onset	0	FAR1 CL E G H	84188	26222	OMIM:619338	CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY; CSPSD		7
HP:0003593	HP:0003593	Infantile onset	0	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications	.
HP:0003593	HP:0003593	Infantile onset	0	FBP2 CL E G H	8789	3607	OMIM:619864
HP:0003593	HP:0003593	Infantile onset	0	FBXL3 CL E G H	26224	13599	OMIM:606220	Intellectual developmental disorder with short stature, facial anomalies, and speech defects
HP:0003593	HP:0003593	Infantile onset	0	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis		6
HP:0003593	HP:0003593	Infantile onset	0	FCGR3A CL E G H	2214	3619	OMIM:615707	Immunodeficiency 20		4
HP:0003593	HP:0003593	Infantile onset	0	FCHO1 CL E G H	23149	29002	OMIM:619164	IMMUNODEFICIENCY 76; IMD76
HP:0003593	HP:0003593	Infantile onset	0	FERMT3 CL E G H	83706	23151	OMIM:612840	Leukocyte adhesion deficiency, type III	.	23
HP:0003593	HP:0003593	Infantile onset	0	FGA CL E G H	2243	3661	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		47
HP:0003593	HP:0003593	Infantile onset	0	FGB CL E G H	2244	3662	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		62
HP:0003593	HP:0003593	Infantile onset	0	FGF13 CL E G H	2258	3670	OMIM:301058	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90		1
HP:0003593	HP:0003593	Infantile onset	0	FGG CL E G H	2266	3694	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		34
HP:0003593	HP:0003593	Infantile onset	0	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4	.	184
HP:0003593	HP:0003593	Infantile onset	0	FKTN CL E G H	2218	3622	OMIM:613152	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4	.	184
HP:0003593	HP:0003593	Infantile onset	0	FKTN CL E G H	2218	3622	OMIM:611588	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4	.	184
HP:0003593	HP:0003593	Infantile onset	0	FLNA CL E G H	2316	3754	OMIM:300048	Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked	.	493
HP:0003593	HP:0003593	Infantile onset	0	FLT4 CL E G H	2324	3767	OMIM:602089	Hemangioma, capillary infantile		90
HP:0003593	HP:0003593	Infantile onset	0	FMN2 CL E G H	56776	14074	OMIM:616193	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47; MRT47		44
HP:0003593	HP:0003593	Infantile onset	0	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0003593	HP:0003593	Infantile onset	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0003593	HP:0003593	Infantile onset	0	FOXC1 CL E G H	2296	3800	OMIM:601631	Anterior segment dysgenesis 3		63
HP:0003593	HP:0003593	Infantile onset	0	FOXP1 CL E G H	27086	3823	OMIM:613670	Mental retardation with language impairment and with or without autistic features		184
HP:0003593	HP:0003593	Infantile onset	0	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked		32
HP:0003593	HP:0003593	Infantile onset	0	FRMD5 CL E G H	84978	28214	OMIM:620094
HP:0003593	HP:0003593	Infantile onset	0	FRMD7 CL E G H	90167	8079	OMIM:310700	Nystagmus 1, congenital, X-linked	.	38
HP:0003593	HP:0003593	Infantile onset	0	FRMPD4 CL E G H	9758	29007	OMIM:300983	MENTAL RETARDATION, X-LINKED 104; MRX104		32
HP:0003593	HP:0003593	Infantile onset	0	FRRS1L CL E G H	23732	1362	OMIM:616981	Epileptic encephalopathy, early infantile, 37		4
HP:0003593	HP:0003593	Infantile onset	0	FTSJ1 CL E G H	24140	13254	OMIM:309549	Mental retardation, X-linked 9		13
HP:0003593	HP:0003593	Infantile onset	0	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS		43
HP:0003593	HP:0003593	Infantile onset	0	FYCO1 CL E G H	79443	14673	OMIM:610019	Cataract, autosomal recessive congenital 2		140
HP:0003593	HP:0003593	Infantile onset	0	FZD4 CL E G H	8322	4042	OMIM:133780	Exudative vitreoretinopathy 1	.	109
HP:0003593	HP:0003593	Infantile onset	0	G6PC1 CL E G H	2538	4056	OMIM:232200	Glycogen storage disease ia
HP:0003593	HP:0003593	Infantile onset	0	G6PD CL E G H	2539	4057	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency		101
HP:0003593	HP:0003593	Infantile onset	0	GABBR2 CL E G H	9568	4507	OMIM:617904	Epileptic encephalopathy, early infantile, 59		5
HP:0003593	HP:0003593	Infantile onset	0	GABRA1 CL E G H	2554	4075	OMIM:615744	Epileptic encephalopathy, early infantile, 19		134
HP:0003593	HP:0003593	Infantile onset	0	GABRB1 CL E G H	2560	4081	OMIM:617153	Epileptic encephalopathy, early infantile, 45	.	3
HP:0003593	HP:0003593	Infantile onset	0	GABRB3 CL E G H	2562	4083	OMIM:617113	Epileptic encephalopathy, early infantile, 43	.	57
HP:0003593	HP:0003593	Infantile onset	0	GABRG2 CL E G H	2566	4087	OMIM:618396	Epileptic encephalopathy, early infantile, 74	.	139
HP:0003593	HP:0003593	Infantile onset	0	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89		44
HP:0003593	HP:0003593	Infantile onset	0	GALC CL E G H	2581	4115	OMIM:245200	Krabbe disease		160
HP:0003593	HP:0003593	Infantile onset	0	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A		123
HP:0003593	HP:0003593	Infantile onset	0	GAMT CL E G H	2593	4136	OMIM:612736	Cerebral creatine deficiency syndrome 2		91
HP:0003593	HP:0003593	Infantile onset	0	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive		121
HP:0003593	HP:0003593	Infantile onset	0	GARS1 CL E G H	2617	4162	OMIM:619042	SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE; SMAJI
HP:0003593	HP:0003593	Infantile onset	0	GATA1 CL E G H	2623	4170	OMIM:300835	Anemia, X-linked, with or without neutropenia and/or platelet abnormalities	.	29
HP:0003593	HP:0003593	Infantile onset	0	GATA1 CL E G H	2623	4170	OMIM:300367	Thrombocytopenia, X-linked, with or without dyserythropoietic anemia	.	29
HP:0003593	HP:0003593	Infantile onset	0	GATAD2B CL E G H	57459	30778	OMIM:615074	Mental retardation, autosomal dominant 18	.	33
HP:0003593	HP:0003593	Infantile onset	0	GATM CL E G H	2628	4175	OMIM:612718	Cerebral creatine deficiency syndrome 3	.	86
HP:0003593	HP:0003593	Infantile onset	0	GCDH CL E G H	2639	4189	OMIM:231670	Glutaric acidemia I		115
HP:0003593	HP:0003593	Infantile onset	0	GCH1 CL E G H	2643	4193	OMIM:233910	Hyperphenylalaninemia, BH4-deficient, B	.	86
HP:0003593	HP:0003593	Infantile onset	0	GDAP1 CL E G H	54332	15968	OMIM:607831	Charcot-Marie-Tooth disease, axonal, type 2K	.	108
HP:0003593	HP:0003593	Infantile onset	0	GDAP1 CL E G H	54332	15968	OMIM:214400	Charcot-Marie-Tooth disease, type 4A	.	108
HP:0003593	HP:0003593	Infantile onset	0	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities	.	1
HP:0003593	HP:0003593	Infantile onset	0	GEMIN5 CL E G H	25929	20043	OMIM:619333	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION; NEDCAM
HP:0003593	HP:0003593	Infantile onset	0	GFAP CL E G H	2670	4235	OMIM:203450	Alexander disease	.	188
HP:0003593	HP:0003593	Infantile onset	0	GFI1B CL E G H	8328	4238	OMIM:187900	Bleeding disorder, platelet-type, 17	.	3
HP:0003593	HP:0003593	Infantile onset	0	GFPT1 CL E G H	2673	4241	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency	.	128
HP:0003593	HP:0003593	Infantile onset	0	GGCX CL E G H	2677	4247	OMIM:277450	VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1		129
HP:0003593	HP:0003593	Infantile onset	0	GH1 CL E G H	2688	4261	OMIM:262400	Growth hormone deficiency, isolated, type IA		50
HP:0003593	HP:0003593	Infantile onset	0	GJB2 CL E G H	2706	4284	OMIM:602540	Ichthyosis, hystrix-like, with deafness	.	199
HP:0003593	HP:0003593	Infantile onset	0	GJB3 CL E G H	2707	4285	OMIM:133200	Erythrokeratodermia variabilis et progressiva 1	.	74
HP:0003593	HP:0003593	Infantile onset	0	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2	.	37
HP:0003593	HP:0003593	Infantile onset	0	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I		120
HP:0003593	HP:0003593	Infantile onset	0	GLRA1 CL E G H	2741	4326	OMIM:149400	Hyperekplexia 1	.	63
HP:0003593	HP:0003593	Infantile onset	0	GLS CL E G H	2744	4331	OMIM:618339	Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development
HP:0003593	HP:0003593	Infantile onset	0	GLUD1 CL E G H	2746	4335	OMIM:606762	Hyperinsulinemic hypoglycemia, familial, 6		56
HP:0003593	HP:0003593	Infantile onset	0	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome		24
HP:0003593	HP:0003593	Infantile onset	0	GMPPB CL E G H	29925	22932	OMIM:615351	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14		34
HP:0003593	HP:0003593	Infantile onset	0	GNAS CL E G H	2778	4392	OMIM:166350	Osseous heteroplasia, progressive	.	101
HP:0003593	HP:0003593	Infantile onset	0	GNAS CL E G H	2778	4392	OMIM:103580	Pseudohypoparathyroidism, type IA		101
HP:0003593	HP:0003593	Infantile onset	0	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42	.	12
HP:0003593	HP:0003593	Infantile onset	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0003593	HP:0003593	Infantile onset	0	GNB5 CL E G H	10681	4401	OMIM:617182	Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia		7
HP:0003593	HP:0003593	Infantile onset	0	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA		173
HP:0003593	HP:0003593	Infantile onset	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta		240
HP:0003593	HP:0003593	Infantile onset	0	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID		69
HP:0003593	HP:0003593	Infantile onset	0	GON7 CL E G H	84520	20356	OMIM:619603	GALLOWAY-MOWAT SYNDROME 9; GAMOS9
HP:0003593	HP:0003593	Infantile onset	0	GP6 CL E G H	51206	14388	OMIM:614201	Bleeding disorder, platelet-type, 11	.	24
HP:0003593	HP:0003593	Infantile onset	0	GPAA1 CL E G H	8733	4446	OMIM:617810	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15
HP:0003593	HP:0003593	Infantile onset	0	GPD1 CL E G H	2819	4455	OMIM:614480	Hypertriglyceridemia, transient infantile	.	3
HP:0003593	HP:0003593	Infantile onset	0	GPHN CL E G H	10243	15465	OMIM:149400	Hyperekplexia 1	.	18
HP:0003593	HP:0003593	Infantile onset	0	GPR101 CL E G H	83550	14963	OMIM:300942	Chromosome Xq26.3 duplication syndrome		5
HP:0003593	HP:0003593	Infantile onset	0	GPT2 CL E G H	84706	18062	OMIM:616281	Mental retardation, autosomal recessive 49		4
HP:0003593	HP:0003593	Infantile onset	0	GRIA1 CL E G H	2890	4571	OMIM:619931			3
HP:0003593	HP:0003593	Infantile onset	0	GRIA1 CL E G H	2890	4571	OMIM:619927			3
HP:0003593	HP:0003593	Infantile onset	0	GRIA3 CL E G H	2892	4573	OMIM:300699	Mental retardation, X-linked 94		30
HP:0003593	HP:0003593	Infantile onset	0	GRID2 CL E G H	2895	4576	OMIM:616204	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR18		18
HP:0003593	HP:0003593	Infantile onset	0	GRIK2 CL E G H	2898	4580	OMIM:611092	Mental retardation, autosomal recessive 6	.	32
HP:0003593	HP:0003593	Infantile onset	0	GRIN1 CL E G H	2902	4584	OMIM:614254	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant	.	108
HP:0003593	HP:0003593	Infantile onset	0	GRIN1 CL E G H	2902	4584	OMIM:617820	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive		108
HP:0003593	HP:0003593	Infantile onset	0	GRIN2B CL E G H	2904	4586	OMIM:616139	Epileptic encephalopathy, early infantile, 27		274
HP:0003593	HP:0003593	Infantile onset	0	GRIN2D CL E G H	2906	4588	OMIM:617162	Epileptic encephalopathy, early infantile, 46	.	2
HP:0003593	HP:0003593	Infantile onset	0	GRM1 CL E G H	2911	4593	OMIM:614831	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13		8
HP:0003593	HP:0003593	Infantile onset	0	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome	.
HP:0003593	HP:0003593	Infantile onset	0	GUCY2C CL E G H	2984	4688	OMIM:614616	Diarrhea 6		12
HP:0003593	HP:0003593	Infantile onset	0	GUCY2D CL E G H	3000	4689	OMIM:204000	Leber congenital amaurosis, type I		124
HP:0003593	HP:0003593	Infantile onset	0	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII		54
HP:0003593	HP:0003593	Infantile onset	0	H3-3B CL E G H	3021	4765	OMIM:619721	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0003593	HP:0003593	Infantile onset	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0003593	HP:0003593	Infantile onset	0	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0003593	HP:0003593	Infantile onset	0	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency		99
HP:0003593	HP:0003593	Infantile onset	0	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency		60
HP:0003593	HP:0003593	Infantile onset	0	HAX1 CL E G H	10456	16915	OMIM:610738	NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3		32
HP:0003593	HP:0003593	Infantile onset	0	HCFC1 CL E G H	3054	4839	OMIM:309541	Methylmalonic acidemia and homocysteinemia, Cblx type	.	100
HP:0003593	HP:0003593	Infantile onset	0	HCN1 CL E G H	348980	4845	OMIM:615871	Epileptic encephalopathy, early infantile, 24		54
HP:0003593	HP:0003593	Infantile onset	0	HCN2 CL E G H	610	4846	OMIM:602477	Febrile seizures, familial, 2	.	7
HP:0003593	HP:0003593	Infantile onset	0	HCN4 CL E G H	10021	16882	OMIM:619521	EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 18; EIG18		185
HP:0003593	HP:0003593	Infantile onset	0	HCRT CL E G H	3060	4847	OMIM:161400	Narcolepsy 1		1
HP:0003593	HP:0003593	Infantile onset	0	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF		33
HP:0003593	HP:0003593	Infantile onset	0	HEPACAM CL E G H	220296	26361	OMIM:604004	Megalencephalic leukoencephalopathy with subcortical cysts 1	.	82
HP:0003593	HP:0003593	Infantile onset	0	HEPACAM CL E G H	220296	26361	OMIM:613925	Megalencephalic leukoencephalopathy with subcortical cysts 2A		82
HP:0003593	HP:0003593	Infantile onset	0	HERC2 CL E G H	8924	4868	OMIM:615516	Mental retardation, autosomal recessive 38	.	38
HP:0003593	HP:0003593	Infantile onset	0	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease		80
HP:0003593	HP:0003593	Infantile onset	0	HGD CL E G H	3081	4892	OMIM:203500	Alkaptonuria		77
HP:0003593	HP:0003593	Infantile onset	0	HIBCH CL E G H	26275	4908	OMIM:250620	3-Hydroxyisobutyryl-Coa hydrolase deficiency	.	32
HP:0003593	HP:0003593	Infantile onset	0	HID1 CL E G H	283987	15736	OMIM:619983
HP:0003593	HP:0003593	Infantile onset	0	HIKESHI CL E G H	51501	26938	OMIM:616881	Leukodystrophy, hypomyelinating, 13	.	3
HP:0003593	HP:0003593	Infantile onset	0	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43	.	13
HP:0003593	HP:0003593	Infantile onset	0	HNF1A CL E G H	6927	11621	OMIM:600496	Maturity-onset diabetes of the young, type III	.	161
HP:0003593	HP:0003593	Infantile onset	0	HNMT CL E G H	3176	5028	OMIM:616739	Mental retardation, autosomal recessive 51	.	3
HP:0003593	HP:0003593	Infantile onset	0	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB		3
HP:0003593	HP:0003593	Infantile onset	0	HNRNPU CL E G H	3192	5048	OMIM:617391	Epileptic encephalopathy, early infantile, 54	.	39
HP:0003593	HP:0003593	Infantile onset	0	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0003593	HP:0003593	Infantile onset	0	HPRT1 CL E G H	3251	5157	OMIM:300322	Lesch-Nyhan syndrome		76
HP:0003593	HP:0003593	Infantile onset	0	HPS5 CL E G H	11234	17022	OMIM:614074	Hermansky-Pudlak syndrome 5		105
HP:0003593	HP:0003593	Infantile onset	0	HSD17B10 CL E G H	3028	4800	OMIM:300438	HSD10 mitochondrial disease	.	19
HP:0003593	HP:0003593	Infantile onset	0	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1		345
HP:0003593	HP:0003593	Infantile onset	0	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type	.	98
HP:0003593	HP:0003593	Infantile onset	0	HYDIN CL E G H	54768	19368	OMIM:608647	Ciliary dyskinesia, primary, 5	.	21
HP:0003593	HP:0003593	Infantile onset	0	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia		25
HP:0003593	HP:0003593	Infantile onset	0	IDH3A CL E G H	3419	5384	OMIM:619007	RETINITIS PIGMENTOSA 90; RP90
HP:0003593	HP:0003593	Infantile onset	0	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II		86
HP:0003593	HP:0003593	Infantile onset	0	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7		28
HP:0003593	HP:0003593	Infantile onset	0	IFIH1 CL E G H	64135	18873	OMIM:619773	IMMUNODEFICIENCY 95; IMD95		28
HP:0003593	HP:0003593	Infantile onset	0	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1		28
HP:0003593	HP:0003593	Infantile onset	0	IFITM5 CL E G H	387733	16644	OMIM:610967	Osteogenesis imperfecta, type V		8
HP:0003593	HP:0003593	Infantile onset	0	IFNAR1 CL E G H	3454	5432	OMIM:619935
HP:0003593	HP:0003593	Infantile onset	0	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2		23
HP:0003593	HP:0003593	Infantile onset	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly	.	148
HP:0003593	HP:0003593	Infantile onset	0	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive	.	7
HP:0003593	HP:0003593	Infantile onset	0	IGLL1 CL E G H	3543	5870	OMIM:613500	Agammaglobulinemia 2, autosomal recessive	.	3
HP:0003593	HP:0003593	Infantile onset	0	IKBKB CL E G H	3551	5960	OMIM:615592	Immunodeficiency 15	.	4
HP:0003593	HP:0003593	Infantile onset	0	IKBKG CL E G H	8517	5961	OMIM:301081			52
HP:0003593	HP:0003593	Infantile onset	0	IKBKG CL E G H	8517	5961	OMIM:300636	Immunodeficiency 33		52
HP:0003593	HP:0003593	Infantile onset	0	IL10RB CL E G H	3588	5965	OMIM:612567	INFLAMMATORY BOWEL DISEASE 25, AUTOSOMAL RECESSIVE; IBD25		29
HP:0003593	HP:0003593	Infantile onset	0	IL12B CL E G H	3593	5970	OMIM:614890	Immunodeficiency 29		31
HP:0003593	HP:0003593	Infantile onset	0	IL17RC CL E G H	84818	18358	OMIM:616445	Candidiasis, familial, 9		4
HP:0003593	HP:0003593	Infantile onset	0	IL21 CL E G H	59067	6005	OMIM:615767	IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11		3
HP:0003593	HP:0003593	Infantile onset	0	IL2RB CL E G H	3560	6009	OMIM:618495	Immunodeficiency 63 with lymphoproliferation and autoimmunity
HP:0003593	HP:0003593	Infantile onset	0	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked		48
HP:0003593	HP:0003593	Infantile onset	0	IL36RN CL E G H	26525	15561	OMIM:614204	PSORIASIS 14, PUSTULAR; PSORS14		51
HP:0003593	HP:0003593	Infantile onset	0	IL37 CL E G H	27178	15563	OMIM:619398	INFLAMMATORY BOWEL DISEASE (INFANTILE ULCERATIVE COLITIS) 31, AUTOSOMAL RECESSIVE; IBD31
HP:0003593	HP:0003593	Infantile onset	0	IL6R CL E G H	3570	6019	OMIM:618944	HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5		1
HP:0003593	HP:0003593	Infantile onset	0	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0003593	HP:0003593	Infantile onset	0	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0003593	HP:0003593	Infantile onset	0	IL7R CL E G H	3575	6024	OMIM:608971	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive		94
HP:0003593	HP:0003593	Infantile onset	0	ILDR1 CL E G H	286676	28741	OMIM:609646	Deafness, neurosensory, autosomal recessive 42	.	42
HP:0003593	HP:0003593	Infantile onset	0	IMPDH1 CL E G H	3614	6052	OMIM:180105	Retinitis pigmentosa 10	.	52
HP:0003593	HP:0003593	Infantile onset	0	INPP5K CL E G H	51763	33882	OMIM:617404	Muscular dystrophy, congenital, with cataracts and intellectual disability		7
HP:0003593	HP:0003593	Infantile onset	0	IQSEC2 CL E G H	23096	29059	OMIM:309530	Mental retardation, X-linked 1		119
HP:0003593	HP:0003593	Infantile onset	0	IREB2 CL E G H	3658	6115	OMIM:618451	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia	.
HP:0003593	HP:0003593	Infantile onset	0	IRF2BPL CL E G H	64207	14282	OMIM:618088	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
HP:0003593	HP:0003593	Infantile onset	0	IRF8 CL E G H	3394	5358	OMIM:226990	Immunodeficiency 32B		5
HP:0003593	HP:0003593	Infantile onset	0	ISCA1 CL E G H	81689	28660	OMIM:617613	Multiple mitochondrial dysfunctions syndrome 5	.	1
HP:0003593	HP:0003593	Infantile onset	0	ITGA3 CL E G H	3675	6139	OMIM:614748	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital		6
HP:0003593	HP:0003593	Infantile onset	0	ITGA7 CL E G H	3679	6143	OMIM:613204	Muscular dystrophy, congenital, due to integrin alpha-7 deficiency	.	127
HP:0003593	HP:0003593	Infantile onset	0	ITPA CL E G H	3704	6176	OMIM:616647	Epileptic encephalopathy, early infantile, 35		8
HP:0003593	HP:0003593	Infantile onset	0	ITPR1 CL E G H	3708	6180	OMIM:206700	Gillespie syndrome		177
HP:0003593	HP:0003593	Infantile onset	0	ITPR1 CL E G H	3708	6180	OMIM:117360	Spinocerebellar ataxia 29		177
HP:0003593	HP:0003593	Infantile onset	0	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1	.	257
HP:0003593	HP:0003593	Infantile onset	0	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27		1
HP:0003593	HP:0003593	Infantile onset	0	JAGN1 CL E G H	84522	26926	OMIM:616022	Neutropenia, severe congenital, 6, autosomal recessive		8
HP:0003593	HP:0003593	Infantile onset	0	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type		140
HP:0003593	HP:0003593	Infantile onset	0	JPH1 CL E G H	56704	14201	OMIM:607831	Charcot-Marie-Tooth disease, axonal, type 2K	.	1
HP:0003593	HP:0003593	Infantile onset	0	KCNA2 CL E G H	3737	6220	OMIM:616366	Epileptic encephalopathy, early infantile, 32	.	13
HP:0003593	HP:0003593	Infantile onset	0	KCNB1 CL E G H	3745	6231	OMIM:616056	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26; EIEE26		65
HP:0003593	HP:0003593	Infantile onset	0	KCNC2 CL E G H	3747	6234	OMIM:619913
HP:0003593	HP:0003593	Infantile onset	0	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome	.	13
HP:0003593	HP:0003593	Infantile onset	0	KCNJ10 CL E G H	3766	6256	OMIM:612780	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance	.	121
HP:0003593	HP:0003593	Infantile onset	0	KCNMA1 CL E G H	3778	6284	OMIM:617643	Cerebellar atrophy, developmental delay, and seizures	.	114
HP:0003593	HP:0003593	Infantile onset	0	KCNMA1 CL E G H	3778	6284	OMIM:618729	LIANG-WANG SYNDROME; LIWAS		114
HP:0003593	HP:0003593	Infantile onset	0	KCNN2 CL E G H	3781	6291	OMIM:619725	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0003593	HP:0003593	Infantile onset	0	KCNQ2 CL E G H	3785	6296	OMIM:613720	Epileptic encephalopathy, early infantile, 7	.	528
HP:0003593	HP:0003593	Infantile onset	0	KCNQ5 CL E G H	56479	6299	OMIM:617601	Mental retardation, autosomal dominant 46		5
HP:0003593	HP:0003593	Infantile onset	0	KCNT2 CL E G H	343450	18866	OMIM:617771	Epileptic encephalopathy, early infantile, 57	.	1
HP:0003593	HP:0003593	Infantile onset	0	KCTD7 CL E G H	154881	21957	OMIM:611726	Epilepsy, progressive myoclonic 3, with or without intracellular inclusions		106
HP:0003593	HP:0003593	Infantile onset	0	KDELR2 CL E G H	11014	6305	OMIM:619131	OSTEOGENESIS IMPERFECTA, TYPE XXI; OI21
HP:0003593	HP:0003593	Infantile onset	0	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0003593	HP:0003593	Infantile onset	0	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65	.	2
HP:0003593	HP:0003593	Infantile onset	0	KDR CL E G H	3791	6307	OMIM:602089	Hemangioma, capillary infantile		40
HP:0003593	HP:0003593	Infantile onset	0	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO		4
HP:0003593	HP:0003593	Infantile onset	0	KIF12 CL E G H	113220	21495	OMIM:619662	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC8		1
HP:0003593	HP:0003593	Infantile onset	0	KIF1A CL E G H	547	888	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	276
HP:0003593	HP:0003593	Infantile onset	0	KITLG CL E G H	4254	6343	OMIM:145250	Hyperpigmentation, familial progressive		9
HP:0003593	HP:0003593	Infantile onset	0	KLC2 CL E G H	64837	20716	OMIM:609541	Spastic paraplegia, optic atrophy, and neuropathy		1
HP:0003593	HP:0003593	Infantile onset	0	KLHL7 CL E G H	55975	15646	OMIM:617055	Crisponi/cold-Induced sweating syndrome 3	.	42
HP:0003593	HP:0003593	Infantile onset	0	KMT2E CL E G H	55904	18541	OMIM:618512	O'donnell-Luria-Rodan syndrome	.	1
HP:0003593	HP:0003593	Infantile onset	0	KMT5B CL E G H	51111	24283	OMIM:617788	Mental retardation, autosomal dominant 51		2
HP:0003593	HP:0003593	Infantile onset	0	KRT14 CL E G H	3861	6416	OMIM:601001	Epidermolysis bullosa simplex, autosomal recessive 1		110
HP:0003593	HP:0003593	Infantile onset	0	KRT14 CL E G H	3861	6416	OMIM:131900	Epidermolysis bullosa simplex, Koebner type		110
HP:0003593	HP:0003593	Infantile onset	0	KRT5 CL E G H	3852	6442	OMIM:131960	Epidermolysis bullosa simplex with mottled pigmentation		173
HP:0003593	HP:0003593	Infantile onset	0	KRT81 CL E G H	3887	6458	OMIM:158000	MONILETHRIX	.	3
HP:0003593	HP:0003593	Infantile onset	0	KRT83 CL E G H	3889	6460	OMIM:158000	MONILETHRIX	.	65
HP:0003593	HP:0003593	Infantile onset	0	KRT86 CL E G H	3892	6463	OMIM:158000	MONILETHRIX	.	10
HP:0003593	HP:0003593	Infantile onset	0	L2HGDH CL E G H	79944	20499	OMIM:236792	L-2-Hydroxyglutaric aciduria	.	34
HP:0003593	HP:0003593	Infantile onset	0	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6	.	136
HP:0003593	HP:0003593	Infantile onset	0	LCA5 CL E G H	167691	31923	OMIM:604537	Leber congenital amaurosis 5	.	70
HP:0003593	HP:0003593	Infantile onset	0	LCK CL E G H	3932	6524	OMIM:615758	Immunodeficiency 22	.	1
HP:0003593	HP:0003593	Infantile onset	0	LEPR CL E G H	3953	6554	OMIM:614963	Leptin receptor deficiency		46
HP:0003593	HP:0003593	Infantile onset	0	LETM1 CL E G H	3954	6556	OMIM:620089			2
HP:0003593	HP:0003593	Infantile onset	0	LGI3 CL E G H	203190	18711	OMIM:620007
HP:0003593	HP:0003593	Infantile onset	0	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96		9
HP:0003593	HP:0003593	Infantile onset	0	LINGO1 CL E G H	84894	21205	OMIM:618103	Mental retardation, autosomal recessive 64
HP:0003593	HP:0003593	Infantile onset	0	LINS1 CL E G H	55180	30922	OMIM:614340	Mental retardation, autosomal recessive 27		25
HP:0003593	HP:0003593	Infantile onset	0	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency		73
HP:0003593	HP:0003593	Infantile onset	0	LIPT1 CL E G H	51601	29569	OMIM:616299	Lipoyltransferase 1 deficiency	.	21
HP:0003593	HP:0003593	Infantile onset	0	LMAN2L CL E G H	81562	19263	OMIM:617863			1
HP:0003593	HP:0003593	Infantile onset	0	LMAN2L CL E G H	81562	19263	OMIM:616887	Mental retardation, autosomal recessive 52	.	1
HP:0003593	HP:0003593	Infantile onset	0	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type	.	46
HP:0003593	HP:0003593	Infantile onset	0	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0003593	HP:0003593	Infantile onset	0	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26		44
HP:0003593	HP:0003593	Infantile onset	0	LRIG2 CL E G H	9860	20889	OMIM:615112	Urofacial syndrome 2		5
HP:0003593	HP:0003593	Infantile onset	0	LRP5 CL E G H	4041	6697	OMIM:133780	Exudative vitreoretinopathy 1	.	125
HP:0003593	HP:0003593	Infantile onset	0	LRP5 CL E G H	4041	6697	OMIM:601813	Exudative vitreoretinopathy 4	.	125
HP:0003593	HP:0003593	Infantile onset	0	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type	.	191
HP:0003593	HP:0003593	Infantile onset	0	LRRK1 CL E G H	79705	18608	OMIM:615198	Osteosclerotic metaphyseal dysplasia		1
HP:0003593	HP:0003593	Infantile onset	0	LTBP1 CL E G H	4052	6714	OMIM:619451	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0003593	HP:0003593	Infantile onset	0	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8		10
HP:0003593	HP:0003593	Infantile onset	0	LYSET CL E G H	26175	20218	OMIM:619345	DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE; DMAN
HP:0003593	HP:0003593	Infantile onset	0	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome		239
HP:0003593	HP:0003593	Infantile onset	0	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation	.	2
HP:0003593	HP:0003593	Infantile onset	0	MAFB CL E G H	9935	6408	OMIM:166300	Multicentric carpotarsal osteolysis syndrome		63
HP:0003593	HP:0003593	Infantile onset	0	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome	.	63
HP:0003593	HP:0003593	Infantile onset	0	MANBA CL E G H	4126	6831	OMIM:248510	MANNOSIDOSIS, BETA A, LYSOSOMAL		55
HP:0003593	HP:0003593	Infantile onset	0	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4		178
HP:0003593	HP:0003593	Infantile onset	0	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0003593	HP:0003593	Infantile onset	0	MARS1 CL E G H	4141	6898	OMIM:615486	Interstitial lung and liver disease
HP:0003593	HP:0003593	Infantile onset	0	MARS1 CL E G H	4141	6898	OMIM:619692	TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE; TTD9
HP:0003593	HP:0003593	Infantile onset	0	MAST1 CL E G H	22983	19034	OMIM:618273	Mega-Corpus-Callosum syndrome with cerebellar hypoplasia and cortical malformations	.	1
HP:0003593	HP:0003593	Infantile onset	0	MATN3 CL E G H	4148	6909	OMIM:608728	Spondyloepimetaphyseal dysplasia, matrilin-3 related		32
HP:0003593	HP:0003593	Infantile onset	0	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1		252
HP:0003593	HP:0003593	Infantile onset	0	MBOAT7 CL E G H	79143	15505	OMIM:617188	Mental retardation, autosomal recessive 57		5
HP:0003593	HP:0003593	Infantile onset	0	MCCC1 CL E G H	56922	6936	OMIM:210200	3-Methylcrotonyl-CoA carboxylase 1 deficiency		81
HP:0003593	HP:0003593	Infantile onset	0	MCCC2 CL E G H	64087	6937	OMIM:210210	3-Methylcrotonyl-CoA carboxylase 2 deficiency		77
HP:0003593	HP:0003593	Infantile onset	0	MCEE CL E G H	84693	16732	OMIM:251120	Methylmalonyl-Coa epimerase deficiency		19
HP:0003593	HP:0003593	Infantile onset	0	MCOLN1 CL E G H	57192	13356	OMIM:252650	Mucolipidosis IV	.	78
HP:0003593	HP:0003593	Infantile onset	0	MDH2 CL E G H	4191	6971	OMIM:617339	Epileptic encephalopathy, early infantile, 51		4
HP:0003593	HP:0003593	Infantile onset	0	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13		950
HP:0003593	HP:0003593	Infantile onset	0	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome		228
HP:0003593	HP:0003593	Infantile onset	0	MED13L CL E G H	23389	22962	OMIM:616789	Mental retardation and distinctive facial features with or without cardiac defects	.	74
HP:0003593	HP:0003593	Infantile onset	0	MEF2C CL E G H	4208	6996	OMIM:613443	Mental retardation, autosomal dominant 20		132
HP:0003593	HP:0003593	Infantile onset	0	MEFV CL E G H	4210	6998	OMIM:249100	Familial Mediterranean fever, AR		281
HP:0003593	HP:0003593	Infantile onset	0	METTL23 CL E G H	124512	26988	OMIM:615942	Mental retardation, autosomal recessive 44	.	13
HP:0003593	HP:0003593	Infantile onset	0	MFF CL E G H	56947	24858	OMIM:617086	Encephalopathy due to defective mitochondrial and peroxisomal fission 2	.	17
HP:0003593	HP:0003593	Infantile onset	0	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI	.	203
HP:0003593	HP:0003593	Infantile onset	0	MIA3 CL E G H	375056	24008	OMIM:619269	ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0003593	HP:0003593	Infantile onset	0	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0003593	HP:0003593	Infantile onset	0	MID2 CL E G H	11043	7096	OMIM:300928	MENTAL RETARDATION, X-LINKED 101; MRX101		7
HP:0003593	HP:0003593	Infantile onset	0	MIPEP CL E G H	4285	7104	OMIM:617228	Combined oxidative phosphorylation deficiency 31	.	7
HP:0003593	HP:0003593	Infantile onset	0	MLC1 CL E G H	23209	17082	OMIM:604004	Megalencephalic leukoencephalopathy with subcortical cysts 1	.	112
HP:0003593	HP:0003593	Infantile onset	0	MLIP CL E G H	90523	21355	OMIM:620138
HP:0003593	HP:0003593	Infantile onset	0	MMAA CL E G H	166785	18871	OMIM:251100	Methylmalonic aciduria, Cbla type	.	113
HP:0003593	HP:0003593	Infantile onset	0	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	HP:0040282 - Frequent	101
HP:0003593	HP:0003593	Infantile onset	0	MMADHC CL E G H	27249	25221	OMIM:277410	Methylmalonic aciduria and homocystinuria, Cbld type	.	50
HP:0003593	HP:0003593	Infantile onset	0	MMP1 CL E G H	4312	7155	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive		6
HP:0003593	HP:0003593	Infantile onset	0	MMP14 CL E G H	4323	7160	OMIM:277950	Winchester syndrome		2
HP:0003593	HP:0003593	Infantile onset	0	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy		64
HP:0003593	HP:0003593	Infantile onset	0	MMP9 CL E G H	4318	7176	OMIM:613073	METAPHYSEAL ANADYSPLASIA 2; MANDP2		31
HP:0003593	HP:0003593	Infantile onset	0	MPDU1 CL E G H	9526	7207	OMIM:609180	Congenital disorder of glycosylation, type IF		32
HP:0003593	HP:0003593	Infantile onset	0	MPI CL E G H	4351	7216	OMIM:602579	Congenital disorder of glycosylation, type Ib		51
HP:0003593	HP:0003593	Infantile onset	0	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy	.	56
HP:0003593	HP:0003593	Infantile onset	0	MPZ CL E G H	4359	7225	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.	134
HP:0003593	HP:0003593	Infantile onset	0	MPZ CL E G H	4359	7225	OMIM:618184	Neuropathy, congenital hypomyelinating, 2		134
HP:0003593	HP:0003593	Infantile onset	0	MRPL3 CL E G H	11222	10379	OMIM:614582	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9		13
HP:0003593	HP:0003593	Infantile onset	0	MRPL44 CL E G H	65080	16650	OMIM:615395	Combined oxidative phosphorylation deficiency 16	.	13
HP:0003593	HP:0003593	Infantile onset	0	MRPS2 CL E G H	51116	14495	OMIM:617950	Combined oxidative phosphorylation deficiency 36	.
HP:0003593	HP:0003593	Infantile onset	0	MRPS25 CL E G H	64432	14511	OMIM:619025	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50
HP:0003593	HP:0003593	Infantile onset	0	MRPS34 CL E G H	65993	16618	OMIM:617664	Combined oxidative phosphorylation deficiency 32		1
HP:0003593	HP:0003593	Infantile onset	0	MRPS7 CL E G H	51081	14499	OMIM:617872	Combined oxidative phosphorylation deficiency 34	.	12
HP:0003593	HP:0003593	Infantile onset	0	MTFMT CL E G H	123263	29666	OMIM:618248	Mitochondrial complex I deficiency, nuclear type 27	.	29
HP:0003593	HP:0003593	Infantile onset	0	MTMR14 CL E G H	64419	26190	OMIM:160150	Myopathy, centronuclear, autosomal dominant		7
HP:0003593	HP:0003593	Infantile onset	0	MTOR CL E G H	2475	3942	OMIM:607341	Focal cortical dysplasia of taylor	.	68
HP:0003593	HP:0003593	Infantile onset	0	MTR CL E G H	4548	7468	OMIM:250940	Homocystinuria-megaloblastic anemia, cblg Complementation type	.	217
HP:0003593	HP:0003593	Infantile onset	0	MTRR CL E G H	4552	7473	OMIM:236270	Homocystinuria-megaloblastic anemia, cbl E type	.	88
HP:0003593	HP:0003593	Infantile onset	0	MTSS2 CL E G H	92154	25094	OMIM:620086
HP:0003593	HP:0003593	Infantile onset	0	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0003593	HP:0003593	Infantile onset	0	MUSK CL E G H	4593	7525	OMIM:616325	Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency	.	72
HP:0003593	HP:0003593	Infantile onset	0	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome		150
HP:0003593	HP:0003593	Infantile onset	0	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria		150
HP:0003593	HP:0003593	Infantile onset	0	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S		1269
HP:0003593	HP:0003593	Infantile onset	0	MYH7 CL E G H	4625	7577	OMIM:160500	Myopathy, distal, 1	.	1269
HP:0003593	HP:0003593	Infantile onset	0	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome	.	5
HP:0003593	HP:0003593	Infantile onset	0	MYMX CL E G H	101929726	52391	OMIM:619941
HP:0003593	HP:0003593	Infantile onset	0	MYO5A CL E G H	4644	7602	OMIM:214450	Griscelli syndrome, type 1	.	35
HP:0003593	HP:0003593	Infantile onset	0	MYO5B CL E G H	4645	7603	OMIM:619868			192
HP:0003593	HP:0003593	Infantile onset	0	MYO7A CL E G H	4647	7606	OMIM:276900	Usher syndrome, type I		516
HP:0003593	HP:0003593	Infantile onset	0	MYT1L CL E G H	23040	7623	OMIM:616521	Mental retardation, autosomal dominant 39		13
HP:0003593	HP:0003593	Infantile onset	0	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0003593	HP:0003593	Infantile onset	0	NACC1 CL E G H	112939	20967	OMIM:617393	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination		1
HP:0003593	HP:0003593	Infantile onset	0	NAGA CL E G H	4668	7631	OMIM:609241	Schindler disease, type I	.	47
HP:0003593	HP:0003593	Infantile onset	0	NAPB CL E G H	63908	15751	OMIM:620033			2
HP:0003593	HP:0003593	Infantile onset	0	NARS1 CL E G H	4677	7643	OMIM:619091	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG
HP:0003593	HP:0003593	Infantile onset	0	NARS2 CL E G H	79731	26274	OMIM:616239	Combined oxidative phosphorylation deficiency 24	.	34
HP:0003593	HP:0003593	Infantile onset	0	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0003593	HP:0003593	Infantile onset	0	NAXE CL E G H	128240	18453	OMIM:617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1		9
HP:0003593	HP:0003593	Infantile onset	0	NBAS CL E G H	51594	15625	OMIM:616483	INFANTILE LIVER FAILURE SYNDROME 2; ILFS2		25
HP:0003593	HP:0003593	Infantile onset	0	NBEA CL E G H	26960	7648	OMIM:619157	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY; NEDEGE		3
HP:0003593	HP:0003593	Infantile onset	0	NCDN CL E G H	23154	17597	OMIM:619373	NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS; NEDIES
HP:0003593	HP:0003593	Infantile onset	0	NCKAP1L CL E G H	3071	4862	OMIM:618982	IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0003593	HP:0003593	Infantile onset	0	NDP CL E G H	4693	7678	OMIM:305390	Exudative vitreoretinopathy 2, X-linked		39
HP:0003593	HP:0003593	Infantile onset	0	NDP CL E G H	4693	7678	OMIM:310600	Norrie disease		39
HP:0003593	HP:0003593	Infantile onset	0	NDST1 CL E G H	3340	7680	OMIM:616116	Mental retardation, autosomal recessive 46		27
HP:0003593	HP:0003593	Infantile onset	0	NDUFA10 CL E G H	4705	7684	OMIM:618243	Mitochondrial complex I deficiency, nuclear type 22	.	91
HP:0003593	HP:0003593	Infantile onset	0	NDUFA12 CL E G H	55967	23987	OMIM:618244	Mitochondrial complex I deficiency, nuclear type 23		7
HP:0003593	HP:0003593	Infantile onset	0	NDUFA13 CL E G H	51079	17194	OMIM:618249	Mitochondrial complex I deficiency, nuclear type 28	.	3
HP:0003593	HP:0003593	Infantile onset	0	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33		1
HP:0003593	HP:0003593	Infantile onset	0	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0003593	HP:0003593	Infantile onset	0	NDUFAF1 CL E G H	51103	18828	OMIM:618234	Mitochondrial complex I deficiency, nuclear type 11	.	40
HP:0003593	HP:0003593	Infantile onset	0	NDUFAF3 CL E G H	25915	29918	OMIM:618240	Mitochondrial complex I deficiency, nuclear type 18		31
HP:0003593	HP:0003593	Infantile onset	0	NDUFAF6 CL E G H	137682	28625	OMIM:618239	Mitochondrial complex I deficiency, nuclear type 17		39
HP:0003593	HP:0003593	Infantile onset	0	NDUFAF8 CL E G H	284184	33551	OMIM:618776	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34; MC1DN34
HP:0003593	HP:0003593	Infantile onset	0	NDUFB8 CL E G H	4714	7703	OMIM:618252	Mitochondrial complex I deficiency, nuclear type 32	.
HP:0003593	HP:0003593	Infantile onset	0	NDUFB9 CL E G H	4715	7704	OMIM:618245	Mitochondrial complex I deficiency, nuclear type 24	.	16
HP:0003593	HP:0003593	Infantile onset	0	NDUFC2 CL E G H	4718	7706	OMIM:619170	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36
HP:0003593	HP:0003593	Infantile onset	0	NDUFS1 CL E G H	4719	7707	OMIM:618226	Mitochondrial complex I deficiency, nuclear type 5	.	81
HP:0003593	HP:0003593	Infantile onset	0	NDUFS2 CL E G H	4720	7708	OMIM:618228	Mitochondrial complex I deficiency, nuclear type 6	.	65
HP:0003593	HP:0003593	Infantile onset	0	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1		27
HP:0003593	HP:0003593	Infantile onset	0	NDUFV1 CL E G H	4723	7716	OMIM:618225	Mitochondrial complex I deficiency, nuclear type 4	.	74
HP:0003593	HP:0003593	Infantile onset	0	NDUFV2 CL E G H	4729	7717	OMIM:618229	Mitochondrial complex I deficiency, nuclear type 7	.	27
HP:0003593	HP:0003593	Infantile onset	0	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive	.	745
HP:0003593	HP:0003593	Infantile onset	0	NEFL CL E G H	4747	7739	OMIM:607734	Charcot-Marie-Tooth disease, demyelinating, type 1F		118
HP:0003593	HP:0003593	Infantile onset	0	NEMF CL E G H	9147	10663	OMIM:619099	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY; IDDSAPN		1
HP:0003593	HP:0003593	Infantile onset	0	NEUROD2 CL E G H	4761	7763	OMIM:618374	Epileptic encephalopathy, early infantile, 72	.
HP:0003593	HP:0003593	Infantile onset	0	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98		52
HP:0003593	HP:0003593	Infantile onset	0	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I		1952
HP:0003593	HP:0003593	Infantile onset	0	NFE2L2 CL E G H	4780	7782	OMIM:617744	Immunodeficiency, developmental delay, and hypohomocysteinemia	.	20
HP:0003593	HP:0003593	Infantile onset	0	NFKBIA CL E G H	4792	7797	OMIM:612132	ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT	.	27
HP:0003593	HP:0003593	Infantile onset	0	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1		34
HP:0003593	HP:0003593	Infantile onset	0	NGF CL E G H	4803	7808	OMIM:608654	Neuropathy, hereditary sensory and autonomic, type V	.	20
HP:0003593	HP:0003593	Infantile onset	0	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation	.	32
HP:0003593	HP:0003593	Infantile onset	0	NKX2-1 CL E G H	7080	11825	OMIM:118700	Chorea, benign hereditary		51
HP:0003593	HP:0003593	Infantile onset	0	NKX6-2 CL E G H	84504	19321	OMIM:617560	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy	.	2
HP:0003593	HP:0003593	Infantile onset	0	NLRC4 CL E G H	58484	16412	OMIM:616115	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4; FCAS4		30
HP:0003593	HP:0003593	Infantile onset	0	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0003593	HP:0003593	Infantile onset	0	NLRP12 CL E G H	91662	22938	OMIM:611762	Familial cold autoinflammatory syndrome 2		99
HP:0003593	HP:0003593	Infantile onset	0	NLRP3 CL E G H	114548	16400	OMIM:607115	CINCA SYNDROME; CINCA		217
HP:0003593	HP:0003593	Infantile onset	0	NLRP3 CL E G H	114548	16400	OMIM:120100	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1		217
HP:0003593	HP:0003593	Infantile onset	0	NMNAT1 CL E G H	64802	17877	OMIM:608553	Leber congenital amaurosis 9		15
HP:0003593	HP:0003593	Infantile onset	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:0003593	HP:0003593	Infantile onset	0	NOS1AP CL E G H	9722	16859	OMIM:619155	NEPHROTIC SYNDROME, TYPE 22; NPHS22		4
HP:0003593	HP:0003593	Infantile onset	0	NOTCH2NLC CL E G H	100996717	53924	OMIM:619473	OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0003593	HP:0003593	Infantile onset	0	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia		157
HP:0003593	HP:0003593	Infantile onset	0	NR0B1 CL E G H	190	7960	OMIM:300200	Adrenal hypoplasia, congenital		48
HP:0003593	HP:0003593	Infantile onset	0	NR1H4 CL E G H	9971	7967	OMIM:617049	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5		14
HP:0003593	HP:0003593	Infantile onset	0	NR4A2 CL E G H	4929	7981	OMIM:619911			27
HP:0003593	HP:0003593	Infantile onset	0	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST		118
HP:0003593	HP:0003593	Infantile onset	0	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0003593	HP:0003593	Infantile onset	0	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5		84
HP:0003593	HP:0003593	Infantile onset	0	NSUN3 CL E G H	63899	26208	OMIM:619012	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48; COXPD48
HP:0003593	HP:0003593	Infantile onset	0	NTRK1 CL E G H	4914	8031	OMIM:256800	Insensitivity to pain, congenital, with anhidrosis	.	97
HP:0003593	HP:0003593	Infantile onset	0	NUP214 CL E G H	8021	8064	OMIM:618426	Encephalopathy, acute, infection-induced, susceptibility to, 9	.	1
HP:0003593	HP:0003593	Infantile onset	0	NUP62 CL E G H	23636	8066	OMIM:271930	Striatonigral degeneration, infantile		7
HP:0003593	HP:0003593	Infantile onset	0	OAS1 CL E G H	4938	8086	OMIM:618042	Pulmonary alveolar proteinosis with hypogammaglobulinemia		2
HP:0003593	HP:0003593	Infantile onset	0	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria		23
HP:0003593	HP:0003593	Infantile onset	0	OGDH CL E G H	4967	8124	OMIM:203740	Alpha-Ketoglutarate dehydrogenase deficiency
HP:0003593	HP:0003593	Infantile onset	0	OGDHL CL E G H	55753	25590	OMIM:619701	YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN		3
HP:0003593	HP:0003593	Infantile onset	0	OPA1 CL E G H	4976	8140	OMIM:210000	Behr syndrome		214
HP:0003593	HP:0003593	Infantile onset	0	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance		55
HP:0003593	HP:0003593	Infantile onset	0	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5		73
HP:0003593	HP:0003593	Infantile onset	0	OTC CL E G H	5009	8512	OMIM:311250	Ornithine transcarbamylase deficiency, hyperammonemia due to		369
HP:0003593	HP:0003593	Infantile onset	0	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS		3
HP:0003593	HP:0003593	Infantile onset	0	P4HB CL E G H	5034	8548	OMIM:112240	Cole-Carpenter syndrome 1		2
HP:0003593	HP:0003593	Infantile onset	0	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0003593	HP:0003593	Infantile onset	0	PAK1 CL E G H	5058	8590	OMIM:618158	Intellectual developmental disorder with macrocephaly, seizures, and speech delay	.
HP:0003593	HP:0003593	Infantile onset	0	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1		55
HP:0003593	HP:0003593	Infantile onset	0	PARN CL E G H	5073	8609	OMIM:616353	Dyskeratosis congenita, autosomal recessive 6	.	26
HP:0003593	HP:0003593	Infantile onset	0	PC CL E G H	5091	8636	OMIM:266150	Pyruvate carboxylase deficiency		118
HP:0003593	HP:0003593	Infantile onset	0	PCDH12 CL E G H	51294	8657	OMIM:251280	Microcephaly, seizures, spasticity, and brain calcifications
HP:0003593	HP:0003593	Infantile onset	0	PCDH15 CL E G H	65217	14674	OMIM:609533	Deafness, autosomal recessive 23	.	352
HP:0003593	HP:0003593	Infantile onset	0	PCDH19 CL E G H	57526	14270	OMIM:300088	Epileptic encephalopathy, early infantile, 9	.	225
HP:0003593	HP:0003593	Infantile onset	0	PCDHGC4 CL E G H	56098	8717	OMIM:619880
HP:0003593	HP:0003593	Infantile onset	0	PCK1 CL E G H	5105	8724	OMIM:261680	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	.	53
HP:0003593	HP:0003593	Infantile onset	0	PDE10A CL E G H	10846	8772	OMIM:616921	Dyskinesia, limb and orofacial, infantile-onset	.	5
HP:0003593	HP:0003593	Infantile onset	0	PDE2A CL E G H	5138	8777	OMIM:619150	INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES; IDDPADS
HP:0003593	HP:0003593	Infantile onset	0	PDGFRB CL E G H	5159	8804	OMIM:228550	Myofibromatosis, infantile, 1		28
HP:0003593	HP:0003593	Infantile onset	0	PDHA1 CL E G H	5160	8806	OMIM:312170	Pyruvate dehydrogenase e1-alpha deficiency	.	88
HP:0003593	HP:0003593	Infantile onset	0	PDP1 CL E G H	54704	9279	OMIM:608782	Pyruvate dehydrogenase phosphatase deficiency	.	52
HP:0003593	HP:0003593	Infantile onset	0	PDZD8 CL E G H	118987	26974	OMIM:620021
HP:0003593	HP:0003593	Infantile onset	0	PERP CL E G H	64065	17637	OMIM:619208	OLMSTED SYNDROME 2; OLMS2
HP:0003593	HP:0003593	Infantile onset	0	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12		6
HP:0003593	HP:0003593	Infantile onset	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)		169
HP:0003593	HP:0003593	Infantile onset	0	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B		59
HP:0003593	HP:0003593	Infantile onset	0	PEX2 CL E G H	5828	9717	OMIM:614867	Peroxisome biogenesis disorder 5B		82
HP:0003593	HP:0003593	Infantile onset	0	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42		20
HP:0003593	HP:0003593	Infantile onset	0	PGAP3 CL E G H	93210	23719	OMIM:615716	Hyperphosphatasia with mental retardation syndrome 4	.	20
HP:0003593	HP:0003593	Infantile onset	0	PHEX CL E G H	5251	8918	OMIM:307800	Hypophosphatemic rickets, X-linked dominant		217
HP:0003593	HP:0003593	Infantile onset	0	PHIP CL E G H	55023	15673	OMIM:617991	Developmental delay, intellectual disability, obesity, and dysmorphic features	.	11
HP:0003593	HP:0003593	Infantile onset	0	PHKA2 CL E G H	5256	8926	OMIM:306000	Glycogen storage disease ixa		54
HP:0003593	HP:0003593	Infantile onset	0	PHKB CL E G H	5257	8927	OMIM:261750	Glycogen storage disease ixb		101
HP:0003593	HP:0003593	Infantile onset	0	PHKG2 CL E G H	5261	8931	OMIM:613027	Glycogen storage disease IXc		48
HP:0003593	HP:0003593	Infantile onset	0	PHOX2B CL E G H	8929	9143	OMIM:209880	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease		86
HP:0003593	HP:0003593	Infantile onset	0	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2		11
HP:0003593	HP:0003593	Infantile onset	0	PI4KA CL E G H	5297	8983	OMIM:619621	SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84		11
HP:0003593	HP:0003593	Infantile onset	0	PIDD1 CL E G H	55367	16491	OMIM:619827	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY; MRT75
HP:0003593	HP:0003593	Infantile onset	0	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH		46
HP:0003593	HP:0003593	Infantile onset	0	PIGG CL E G H	54872	25985	OMIM:616917	Mental retardation, autosomal recessive 53		7
HP:0003593	HP:0003593	Infantile onset	0	PIGK CL E G H	10026	8965	OMIM:618879	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS
HP:0003593	HP:0003593	Infantile onset	0	PIGM CL E G H	93183	18858	OMIM:610293	Glycosylphosphatidylinositol deficiency		6
HP:0003593	HP:0003593	Infantile onset	0	PIGP CL E G H	51227	3046	OMIM:617599	Epileptic encephalopathy, early infantile, 55	.	2
HP:0003593	HP:0003593	Infantile onset	0	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0003593	HP:0003593	Infantile onset	0	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3	.	12
HP:0003593	HP:0003593	Infantile onset	0	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0003593	HP:0003593	Infantile onset	0	PIK3R1 CL E G H	5295	8979	OMIM:615214	Agammaglobulinemia 7, autosomal recessive	.	43
HP:0003593	HP:0003593	Infantile onset	0	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0003593	HP:0003593	Infantile onset	0	PINK1 CL E G H	65018	14581	OMIM:605909	Parkinson disease 6, autosomal recessive early-onset	.	55
HP:0003593	HP:0003593	Infantile onset	0	PITRM1 CL E G H	10531	17663	OMIM:619405	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30; SCAR30		1
HP:0003593	HP:0003593	Infantile onset	0	PKHD1 CL E G H	5314	9016	OMIM:263200	Polycystic kidney disease 4 with or without polycystic liver disease		563
HP:0003593	HP:0003593	Infantile onset	0	PLCB1 CL E G H	23236	15917	OMIM:613722	Epileptic encephalopathy, early infantile, 12		119
HP:0003593	HP:0003593	Infantile onset	0	PLCG2 CL E G H	5336	9066	OMIM:614878	Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated	.	21
HP:0003593	HP:0003593	Infantile onset	0	PLCG2 CL E G H	5336	9066	OMIM:614468	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS3		21
HP:0003593	HP:0003593	Infantile onset	0	PLEKHG2 CL E G H	64857	29515	OMIM:616763	Leukodystrophy and acquired microcephaly with or without dystonia	.	3
HP:0003593	HP:0003593	Infantile onset	0	PLG CL E G H	5340	9071	OMIM:217090	Plasminogen deficiency, type iligneous conjunctivitis, included	.	11
HP:0003593	HP:0003593	Infantile onset	0	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease		60
HP:0003593	HP:0003593	Infantile onset	0	PLP1 CL E G H	5354	9086	OMIM:312920	Spastic paraplegia 2, X-linked		60
HP:0003593	HP:0003593	Infantile onset	0	PLPBP CL E G H	11212	9457	OMIM:617290	Epilepsy, early-onset, vitamin b6-dependent		6
HP:0003593	HP:0003593	Infantile onset	0	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia		150
HP:0003593	HP:0003593	Infantile onset	0	PMP22 CL E G H	5376	9118	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.	79
HP:0003593	HP:0003593	Infantile onset	0	PMPCA CL E G H	23203	18667	OMIM:213200	Spinocerebellar ataxia, autosomal recessive 2	.	7
HP:0003593	HP:0003593	Infantile onset	0	PNKD CL E G H	25953	9153	OMIM:118800	Paroxysmal nonkinesigenic dyskinesia 1	.	66
HP:0003593	HP:0003593	Infantile onset	0	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency		52
HP:0003593	HP:0003593	Infantile onset	0	PNPLA8 CL E G H	50640	28900	OMIM:251950	Mitochondrial myopathy with lactic acidosis	.	3
HP:0003593	HP:0003593	Infantile onset	0	PNPT1 CL E G H	87178	23166	OMIM:614932	Combined oxidative phosphorylation deficiency 13		60
HP:0003593	HP:0003593	Infantile onset	0	POC1B CL E G H	282809	30836	OMIM:615973	Cone-Rod dystrophy 20		3
HP:0003593	HP:0003593	Infantile onset	0	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome		35
HP:0003593	HP:0003593	Infantile onset	0	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)	.	464
HP:0003593	HP:0003593	Infantile onset	0	POLG CL E G H	5428	9179	OMIM:613662	Mitochondrial DNA depletion syndrome 4B (mngie type)	.	464
HP:0003593	HP:0003593	Infantile onset	0	POLR1C CL E G H	9533	20194	OMIM:616494	Leukodystrophy, hypomyelinating, 11		38
HP:0003593	HP:0003593	Infantile onset	0	POLR3A CL E G H	11128	30074	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism		138
HP:0003593	HP:0003593	Infantile onset	0	POLR3B CL E G H	55703	30348	OMIM:619742	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I		67
HP:0003593	HP:0003593	Infantile onset	0	POLR3B CL E G H	55703	30348	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism		67
HP:0003593	HP:0003593	Infantile onset	0	POLR3K CL E G H	51728	14121	OMIM:619310	LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21
HP:0003593	HP:0003593	Infantile onset	0	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55		1
HP:0003593	HP:0003593	Infantile onset	0	POMC CL E G H	5443	9201	OMIM:609734	Obesity, early-onset, with adrenal insufficiency and red hair	.	27
HP:0003593	HP:0003593	Infantile onset	0	POMK CL E G H	84197	26267	OMIM:616094	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12	.	18
HP:0003593	HP:0003593	Infantile onset	0	POMT1 CL E G H	10585	9202	OMIM:613155	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1	.	213
HP:0003593	HP:0003593	Infantile onset	0	POMT1 CL E G H	10585	9202	OMIM:609308	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1	.	213
HP:0003593	HP:0003593	Infantile onset	0	POMT2 CL E G H	29954	19743	OMIM:613158	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2	.	221
HP:0003593	HP:0003593	Infantile onset	0	POU1F1 CL E G H	5449	9210	OMIM:613038	Pituitary hormone deficiency, combined, 1		36
HP:0003593	HP:0003593	Infantile onset	0	PPA2 CL E G H	27068	28883	OMIM:617222	Sudden cardiac failure, infantile		8
HP:0003593	HP:0003593	Infantile onset	0	PPCS CL E G H	79717	25686	OMIM:618189	Cardiomyopathy, dilated, 2C
HP:0003593	HP:0003593	Infantile onset	0	PPP2CA CL E G H	5515	9299	OMIM:618354	Neurodevelopmental disorder and language delay with or without structural brain abnormalities	.	2
HP:0003593	HP:0003593	Infantile onset	0	PPP3CA CL E G H	5530	9314	OMIM:617711	Epileptic encephalopathy, infantile or early childhood, 1		2
HP:0003593	HP:0003593	Infantile onset	0	PRDM12 CL E G H	59335	13997	OMIM:616488	Neuropathy, hereditary sensory and autonomic, type VIII		6
HP:0003593	HP:0003593	Infantile onset	0	PRDM13 CL E G H	59336	13998	OMIM:619761	CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM; CDIDHH		2
HP:0003593	HP:0003593	Infantile onset	0	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	HP:0040282 - Frequent
HP:0003593	HP:0003593	Infantile onset	0	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2		58
HP:0003593	HP:0003593	Infantile onset	0	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS		2
HP:0003593	HP:0003593	Infantile onset	0	PRKDC CL E G H	5591	9413	OMIM:615966	Immunodeficiency 26 with or without neurologic abnormalities	.	42
HP:0003593	HP:0003593	Infantile onset	0	PRKG2 CL E G H	5593	9416	OMIM:619638	SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE; SMDP
HP:0003593	HP:0003593	Infantile onset	0	PRMT7 CL E G H	54496	25557	OMIM:617157	Short stature, brachydactyly, intellectual developmental disability, and seizures	.	6
HP:0003593	HP:0003593	Infantile onset	0	PROC CL E G H	5624	9451	OMIM:612304	Thrombophilia due to protein C deficiency, autosomal recessive		65
HP:0003593	HP:0003593	Infantile onset	0	PRRT2 CL E G H	112476	30500	OMIM:605751	Seizures, benign familial infantile, 2		94
HP:0003593	HP:0003593	Infantile onset	0	PRX CL E G H	57716	13797	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.	170
HP:0003593	HP:0003593	Infantile onset	0	PSAP CL E G H	5660	9498	OMIM:611722	KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY		81
HP:0003593	HP:0003593	Infantile onset	0	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0003593	HP:0003593	Infantile onset	0	PSMC1 CL E G H	5700	9547	OMIM:620071			1
HP:0003593	HP:0003593	Infantile onset	0	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome		4
HP:0003593	HP:0003593	Infantile onset	0	PSMG2 CL E G H	56984	24929	OMIM:619183	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4
HP:0003593	HP:0003593	Infantile onset	0	PSPH CL E G H	5723	9577	OMIM:614023	Phosphoserine phosphatase deficiency	.	54
HP:0003593	HP:0003593	Infantile onset	0	PTCHD1 CL E G H	139411	26392	OMIM:300830	Autism, susceptibility to, X-linked 4	.	34
HP:0003593	HP:0003593	Infantile onset	0	PTH CL E G H	5741	9606	OMIM:146200	Hypoparathyroidism, familial isolated		16
HP:0003593	HP:0003593	Infantile onset	0	PTPRC CL E G H	5788	9666	OMIM:619924			25
HP:0003593	HP:0003593	Infantile onset	0	PTPRQ CL E G H	374462	9679	OMIM:613391	Deafness, autosomal recessive 84	.	7
HP:0003593	HP:0003593	Infantile onset	0	PTS CL E G H	5805	9689	OMIM:261640	Hyperphenylalaninemia, BH4-deficient, A	.	19
HP:0003593	HP:0003593	Infantile onset	0	PURA CL E G H	5813	9701	OMIM:616158	Mental retardation, autosomal dominant 31		53
HP:0003593	HP:0003593	Infantile onset	0	PUS3 CL E G H	83480	25461	OMIM:617051	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55; MRT55		1
HP:0003593	HP:0003593	Infantile onset	0	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0003593	HP:0003593	Infantile onset	0	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8		5
HP:0003593	HP:0003593	Infantile onset	0	QDPR CL E G H	5860	9752	OMIM:261630	Hyperphenylalaninemia, bh4-deficient, C	.	43
HP:0003593	HP:0003593	Infantile onset	0	RAB27A CL E G H	5873	9766	OMIM:607624	Griscelli syndrome, type 2		67
HP:0003593	HP:0003593	Infantile onset	0	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48		3
HP:0003593	HP:0003593	Infantile onset	0	RAG1 CL E G H	5896	9831	OMIM:233650	Combined cellular and humoral immune defects with granulomas	.	127
HP:0003593	HP:0003593	Infantile onset	0	RAG2 CL E G H	5897	9832	OMIM:233650	Combined cellular and humoral immune defects with granulomas	.	50
HP:0003593	HP:0003593	Infantile onset	0	RANBP2 CL E G H	5903	9848	OMIM:608033	Encephalopathy, acute, infection-induced, susceptibility to, 3	.	57
HP:0003593	HP:0003593	Infantile onset	0	RASGRP2 CL E G H	10235	9879	OMIM:615888	Bleeding disorder, platelet-type, 18	.	11
HP:0003593	HP:0003593	Infantile onset	0	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency		10
HP:0003593	HP:0003593	Infantile onset	0	RDX CL E G H	5962	9944	OMIM:611022	Deafness, autosomal recessive, 24	.	97
HP:0003593	HP:0003593	Infantile onset	0	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0003593	HP:0003593	Infantile onset	0	REST CL E G H	5978	9966	OMIM:616806	WILMS TUMOR 6; WT6		7
HP:0003593	HP:0003593	Infantile onset	0	RETREG1 CL E G H	54463	25964	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	54
HP:0003593	HP:0003593	Infantile onset	0	RFT1 CL E G H	91869	30220	OMIM:612015	Congenital disorder of glycosylation, type IN	.	92
HP:0003593	HP:0003593	Infantile onset	0	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome		43
HP:0003593	HP:0003593	Infantile onset	0	RINT1 CL E G H	60561	21876	OMIM:618641	INFANTILE LIVER FAILURE SYNDROME 3; ILFS3		99
HP:0003593	HP:0003593	Infantile onset	0	RIPK1 CL E G H	8737	10019	OMIM:618108	IMMUNODEFICIENCY 57; IMD57
HP:0003593	HP:0003593	Infantile onset	0	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome		7
HP:0003593	HP:0003593	Infantile onset	0	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia		37
HP:0003593	HP:0003593	Infantile onset	0	RNASEH2A CL E G H	10535	18518	OMIM:610333	Aicardi-Goutieres syndrome 4	.	33
HP:0003593	HP:0003593	Infantile onset	0	RNASET2 CL E G H	8635	21686	OMIM:612951	Leukoencephalopathy, cystic, without megalencephaly	HP:0040283 - Occasional	37
HP:0003593	HP:0003593	Infantile onset	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0003593	HP:0003593	Infantile onset	0	ROBO3 CL E G H	64221	13433	OMIM:607313	Gaze palsy, familial horizontal, with progressive scoliosis, 1		90
HP:0003593	HP:0003593	Infantile onset	0	ROR1 CL E G H	4919	10256	OMIM:617654	Deafness, autosomal recessive 108	.	1
HP:0003593	HP:0003593	Infantile onset	0	RORB CL E G H	6096	10259	OMIM:618357	Epilepsy, idiopathic generalized, susceptibility to, 15		3
HP:0003593	HP:0003593	Infantile onset	0	RORC CL E G H	6097	10260	OMIM:616622	Immunodeficiency 42	.	5
HP:0003593	HP:0003593	Infantile onset	0	RPE65 CL E G H	6121	10294	OMIM:204100	Leber congenital amaurosis, type II		129
HP:0003593	HP:0003593	Infantile onset	0	RPGRIP1L CL E G H	23322	29168	OMIM:619113	COACH SYNDROME 3; COACH3		167
HP:0003593	HP:0003593	Infantile onset	0	RPL35A CL E G H	6165	10345	OMIM:612528	Diamond-Blackfan anemia 5	.	11
HP:0003593	HP:0003593	Infantile onset	0	RPL3L CL E G H	6123	10351	OMIM:619371	CARDIOMYOPATHY, DILATED, 2D; CMD2D
HP:0003593	HP:0003593	Infantile onset	0	RPS10 CL E G H	6204	10383	OMIM:613308	Diamond-Blackfan anemia 9		26
HP:0003593	HP:0003593	Infantile onset	0	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1	.	42
HP:0003593	HP:0003593	Infantile onset	0	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10	.	20
HP:0003593	HP:0003593	Infantile onset	0	RPS29 CL E G H	6235	10419	OMIM:615909	Diamond-Blackfan anemia 13		3
HP:0003593	HP:0003593	Infantile onset	0	RPSA CL E G H	3921	6502	OMIM:271400	Asplenia, isolated congenital	.	9
HP:0003593	HP:0003593	Infantile onset	0	RSRC1 CL E G H	51319	24152	OMIM:618402	Intellectual developmental disorder, autosomal recessive 70		2
HP:0003593	HP:0003593	Infantile onset	0	RUBCN CL E G H	9711	28991	OMIM:615705	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15		9
HP:0003593	HP:0003593	Infantile onset	0	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61	.
HP:0003593	HP:0003593	Infantile onset	0	RYR1 CL E G H	6261	10483	OMIM:117000	Central core disease		1200
HP:0003593	HP:0003593	Infantile onset	0	S1PR2 CL E G H	9294	3169	OMIM:610419	Deafness, autosomal recessive 68	.	2
HP:0003593	HP:0003593	Infantile onset	0	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type		309
HP:0003593	HP:0003593	Infantile onset	0	SAR1B CL E G H	51128	10535	OMIM:246700	Chylomicron retention disease	.	8
HP:0003593	HP:0003593	Infantile onset	0	SARS1 CL E G H	6301	10537	OMIM:617709	Neurodevelopmental disorder with microcephaly, ataxia, and seizures
HP:0003593	HP:0003593	Infantile onset	0	SARS2 CL E G H	54938	17697	OMIM:613845	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome	.	60
HP:0003593	HP:0003593	Infantile onset	0	SASH1 CL E G H	23328	19182	OMIM:127500	Dyschromatosis universalis hereditaria	.	1
HP:0003593	HP:0003593	Infantile onset	0	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome		34
HP:0003593	HP:0003593	Infantile onset	0	SCN1A CL E G H	6323	10585	OMIM:619317	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B		1053
HP:0003593	HP:0003593	Infantile onset	0	SCN1A CL E G H	6323	10585	OMIM:607208	Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)		1053
HP:0003593	HP:0003593	Infantile onset	0	SCN2A CL E G H	6326	10588	OMIM:613721	Epileptic encephalopathy, early infantile, 11	.	427
HP:0003593	HP:0003593	Infantile onset	0	SCN3A CL E G H	6328	10590	OMIM:617938	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE62		70
HP:0003593	HP:0003593	Infantile onset	0	SCN4A CL E G H	6329	10591	OMIM:170500	Hyperkalemic periodic paralysis	.	263
HP:0003593	HP:0003593	Infantile onset	0	SCN4A CL E G H	6329	10591	OMIM:170400	Hypokalemic periodic paralysis, type 1		263
HP:0003593	HP:0003593	Infantile onset	0	SCN4A CL E G H	6329	10591	OMIM:614198	Myasthenic syndrome, congenital, 16	.	263
HP:0003593	HP:0003593	Infantile onset	0	SCN4A CL E G H	6329	10591	OMIM:168300	Paramyotonia congenita of von eulenburg	.	263
HP:0003593	HP:0003593	Infantile onset	0	SCN8A CL E G H	6334	10596	OMIM:614558	Epileptic encephalopathy, early infantile, 13		357
HP:0003593	HP:0003593	Infantile onset	0	SCN9A CL E G H	6335	10597	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	318
HP:0003593	HP:0003593	Infantile onset	0	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1		40
HP:0003593	HP:0003593	Infantile onset	0	SDHA CL E G H	6389	10680	OMIM:613642	Cardiomyopathy, dilated, 1gg		304
HP:0003593	HP:0003593	Infantile onset	0	SDHA CL E G H	6389	10680	OMIM:252011	Mitochondrial complex II deficiency	.	304
HP:0003593	HP:0003593	Infantile onset	0	SDHAF1 CL E G H	644096	33867	OMIM:619166	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 2; MC2DN2		16
HP:0003593	HP:0003593	Infantile onset	0	SDHB CL E G H	6390	10681	OMIM:619224	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4		237
HP:0003593	HP:0003593	Infantile onset	0	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3		129
HP:0003593	HP:0003593	Infantile onset	0	SEC23B CL E G H	10483	10702	OMIM:224100	Anemia, dyserythropoietic congenital, type II		60
HP:0003593	HP:0003593	Infantile onset	0	SELENBP1 CL E G H	8991	10719	OMIM:618148	Extraoral halitosis due to MTO deficiency
HP:0003593	HP:0003593	Infantile onset	0	SELENON CL E G H	57190	15999	OMIM:602771	Rigid spine muscular dystrophy 1	.	144
HP:0003593	HP:0003593	Infantile onset	0	SEMA7A CL E G H	8482	10741	OMIM:619874			5
HP:0003593	HP:0003593	Infantile onset	0	SEPSECS CL E G H	51091	30605	OMIM:613811	Pontocerebellar hypoplasia, type 2D	.	66
HP:0003593	HP:0003593	Infantile onset	0	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58		1
HP:0003593	HP:0003593	Infantile onset	0	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29		143
HP:0003593	HP:0003593	Infantile onset	0	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID		6
HP:0003593	HP:0003593	Infantile onset	0	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23		43
HP:0003593	HP:0003593	Infantile onset	0	SGCD CL E G H	6444	10807	OMIM:606685	CARDIOMYOPATHY, DILATED, 1L; CMD1L		223
HP:0003593	HP:0003593	Infantile onset	0	SGPL1 CL E G H	8879	10817	OMIM:617575	Nephrotic syndrome, type 14		8
HP:0003593	HP:0003593	Infantile onset	0	SH3TC2 CL E G H	79628	29427	OMIM:601596	Charcot-Marie-Tooth disease, type 4C		493
HP:0003593	HP:0003593	Infantile onset	0	SHQ1 CL E G H	55164	25543	OMIM:619922
HP:0003593	HP:0003593	Infantile onset	0	SHQ1 CL E G H	55164	25543	OMIM:619921
HP:0003593	HP:0003593	Infantile onset	0	SI CL E G H	6476	10856	OMIM:222900	Sucrase-isomaltase deficiency, congenital		98
HP:0003593	HP:0003593	Infantile onset	0	SIL1 CL E G H	64374	24624	OMIM:248800	Marinesco-Sjogren syndrome	.	67
HP:0003593	HP:0003593	Infantile onset	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0003593	HP:0003593	Infantile onset	0	SKIC2 CL E G H	6499	10898	OMIM:614602	Trichohepatoenteric syndrome 2
HP:0003593	HP:0003593	Infantile onset	0	SLC12A5 CL E G H	57468	13818	OMIM:616645	Epileptic encephalopathy, early infantile, 34		8
HP:0003593	HP:0003593	Infantile onset	0	SLC12A6 CL E G H	9990	10914	OMIM:620068			163
HP:0003593	HP:0003593	Infantile onset	0	SLC16A1 CL E G H	6566	10922	OMIM:616095	Monocarboxylate transporter 1 deficiency		74
HP:0003593	HP:0003593	Infantile onset	0	SLC18A2 CL E G H	6571	10935	OMIM:618049	Parkinsonism-Dystonia, infantile, 2	.	2
HP:0003593	HP:0003593	Infantile onset	0	SLC1A2 CL E G H	6506	10940	OMIM:617105	Epileptic encephalopathy, early infantile, 41		3
HP:0003593	HP:0003593	Infantile onset	0	SLC1A3 CL E G H	6507	10941	OMIM:612656	Episodic ataxia, type 6		63
HP:0003593	HP:0003593	Infantile onset	0	SLC1A4 CL E G H	6509	10942	OMIM:616657	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly		4
HP:0003593	HP:0003593	Infantile onset	0	SLC25A1 CL E G H	6576	10979	OMIM:618197	Myasthenic syndrome, congenital, 23, presynaptic		28
HP:0003593	HP:0003593	Infantile onset	0	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39	.	44
HP:0003593	HP:0003593	Infantile onset	0	SLC25A26 CL E G H	115286	20661	OMIM:616794	Combined oxidative phosphorylation deficiency 28		5
HP:0003593	HP:0003593	Infantile onset	0	SLC25A38 CL E G H	54977	26054	OMIM:205950	Anemia, sideroblastic, 2, pyridoxine-refractory	.	41
HP:0003593	HP:0003593	Infantile onset	0	SLC2A1 CL E G H	6513	11005	OMIM:606777	Glut1 deficiency syndrome 1	.	255
HP:0003593	HP:0003593	Infantile onset	0	SLC2A1 CL E G H	6513	11005	OMIM:612126	Glut1 deficiency syndrome 2		255
HP:0003593	HP:0003593	Infantile onset	0	SLC2A1 CL E G H	6513	11005	OMIM:608885	Stomatin-Deficient cryohydrocytosis with neurologic defects	.	255
HP:0003593	HP:0003593	Infantile onset	0	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome		1
HP:0003593	HP:0003593	Infantile onset	0	SLC33A1 CL E G H	9197	95	OMIM:614482	Congenital cataracts, hearing loss, and neurodegeneration	.	48
HP:0003593	HP:0003593	Infantile onset	0	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary	.	52
HP:0003593	HP:0003593	Infantile onset	0	SLC35A1 CL E G H	10559	11021	OMIM:603585	Congenital disorder of glycosylation, type IIf		24
HP:0003593	HP:0003593	Infantile onset	0	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0003593	HP:0003593	Infantile onset	0	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib		110
HP:0003593	HP:0003593	Infantile onset	0	SLC38A3 CL E G H	10991	18044	OMIM:619881
HP:0003593	HP:0003593	Infantile onset	0	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2		5
HP:0003593	HP:0003593	Infantile onset	0	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type	.	55
HP:0003593	HP:0003593	Infantile onset	0	SLC39A7 CL E G H	7922	4927	OMIM:619693	AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9
HP:0003593	HP:0003593	Infantile onset	0	SLC41A1 CL E G H	254428	19429	OMIM:619468	NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2; NPHPL2
HP:0003593	HP:0003593	Infantile onset	0	SLC46A1 CL E G H	113235	30521	OMIM:229050	Folate malabsorption, hereditary	.	101
HP:0003593	HP:0003593	Infantile onset	0	SLC51A CL E G H	200931	29955	OMIM:619484	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6; PFIC6
HP:0003593	HP:0003593	Infantile onset	0	SLC5A6 CL E G H	8884	11041	OMIM:618973	NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE; NERIB
HP:0003593	HP:0003593	Infantile onset	0	SLC5A7 CL E G H	60482	14025	OMIM:617143	Myasthenic syndrome, congenital, 20, presynaptic		9
HP:0003593	HP:0003593	Infantile onset	0	SLC6A3 CL E G H	6531	11049	OMIM:613135	Parkinsonism-Dystonia, infantile, 1	.	13
HP:0003593	HP:0003593	Infantile onset	0	SLC6A6 CL E G H	6533	11052	OMIM:145350	Hypotaurinemic retinal degeneration and cardiomyopathy
HP:0003593	HP:0003593	Infantile onset	0	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked	.	122
HP:0003593	HP:0003593	Infantile onset	0	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance	.	104
HP:0003593	HP:0003593	Infantile onset	0	SLURP1 CL E G H	57152	18746	OMIM:248300	Meleda disease	.	15
HP:0003593	HP:0003593	Infantile onset	0	SMARCA4 CL E G H	6597	11100	OMIM:613325	Rhabdoid tumor predisposition syndrome 2		617
HP:0003593	HP:0003593	Infantile onset	0	SMG9 CL E G H	56006	25763	OMIM:619995			2
HP:0003593	HP:0003593	Infantile onset	0	SMN1 CL E G H	6606	11117	OMIM:253300	Spinal muscular atrophy, type I		22
HP:0003593	HP:0003593	Infantile onset	0	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A		164
HP:0003593	HP:0003593	Infantile onset	0	SNAP29 CL E G H	9342	11133	OMIM:609528	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome		94
HP:0003593	HP:0003593	Infantile onset	0	SNORD118 CL E G H	727676	32952	OMIM:614561	Leukoencephalopathy, brain calcifications, and cysts		6
HP:0003593	HP:0003593	Infantile onset	0	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20	.	14
HP:0003593	HP:0003593	Infantile onset	0	SOBP CL E G H	55084	29256	OMIM:613671	Mental retardation, anterior maxillary protrusion, and strabismus		29
HP:0003593	HP:0003593	Infantile onset	0	SOD1 CL E G H	6647	11179	OMIM:618598	SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP		53
HP:0003593	HP:0003593	Infantile onset	0	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12
HP:0003593	HP:0003593	Infantile onset	0	SOST CL E G H	50964	13771	OMIM:122860	Craniodiaphyseal dysplasia, autosomal dominant	.	26
HP:0003593	HP:0003593	Infantile onset	0	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome		7
HP:0003593	HP:0003593	Infantile onset	0	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS		1
HP:0003593	HP:0003593	Infantile onset	0	SP7 CL E G H	121340	17321	OMIM:613849	Osteogenesis imperfecta, type XII		34
HP:0003593	HP:0003593	Infantile onset	0	SPATA5 CL E G H	166378	18119	OMIM:616577	Epilepsy, hearing loss, and mental retardation syndrome		19
HP:0003593	HP:0003593	Infantile onset	0	SPATA5L1 CL E G H	79029	28762	OMIM:619616	NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS
HP:0003593	HP:0003593	Infantile onset	0	SPATA7 CL E G H	55812	20423	OMIM:604232	LEBER CONGENITAL AMAUROSIS 3; LCA3		48
HP:0003593	HP:0003593	Infantile onset	0	SPEG CL E G H	10290	16901	OMIM:615959	Myopathy, centronuclear, 5	.	20
HP:0003593	HP:0003593	Infantile onset	0	SPR CL E G H	6697	11257	OMIM:612716	Dystonia, dopa-responsive, due to sepiapterin reductase deficiency	.	28
HP:0003593	HP:0003593	Infantile onset	0	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0003593	HP:0003593	Infantile onset	0	SPTAN1 CL E G H	6709	11273	OMIM:613477	Epileptic encephalopathy, early infantile, 5	.	416
HP:0003593	HP:0003593	Infantile onset	0	SPTBN2 CL E G H	6712	11276	OMIM:600224	Spinocerebellar ataxia 5	HP:0040283 - Occasional	126
HP:0003593	HP:0003593	Infantile onset	0	SPTBN2 CL E G H	6712	11276	OMIM:615386	Spinocerebellar ataxia, autosomal recessive 14	.	126
HP:0003593	HP:0003593	Infantile onset	0	SRCAP CL E G H	10847	16974	OMIM:619595	DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA		138
HP:0003593	HP:0003593	Infantile onset	0	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0003593	HP:0003593	Infantile onset	0	SRD5A3 CL E G H	79644	25812	OMIM:612379	Congenital disorder of glycosylation, type IQ	.	80
HP:0003593	HP:0003593	Infantile onset	0	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47		9
HP:0003593	HP:0003593	Infantile onset	0	STAT2 CL E G H	6773	11363	OMIM:616636	Immunodeficiency 44		9
HP:0003593	HP:0003593	Infantile onset	0	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1		110
HP:0003593	HP:0003593	Infantile onset	0	STAT3 CL E G H	6774	11364	OMIM:147060	Hyper-IgE recurrent infection syndrome	.	110
HP:0003593	HP:0003593	Infantile onset	0	STEAP3 CL E G H	55240	24592	OMIM:615234	Anemia, hypochromic microcytic, with iron overload 2		1
HP:0003593	HP:0003593	Infantile onset	0	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0003593	HP:0003593	Infantile onset	0	STS CL E G H	412	11425	OMIM:308100	Ichthyosis, X-linked		19
HP:0003593	HP:0003593	Infantile onset	0	STT3A CL E G H	3703	6172	OMIM:615596	Congenital disorder of glycosylation, type Iw		21
HP:0003593	HP:0003593	Infantile onset	0	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD		21
HP:0003593	HP:0003593	Infantile onset	0	STX11 CL E G H	8676	11429	OMIM:603552	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4		85
HP:0003593	HP:0003593	Infantile onset	0	STXBP1 CL E G H	6812	11444	OMIM:612164	Epileptic encephalopathy, early infantile, 4		237
HP:0003593	HP:0003593	Infantile onset	0	STXBP2 CL E G H	6813	11445	OMIM:613101	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5		70
HP:0003593	HP:0003593	Infantile onset	0	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	.	66
HP:0003593	HP:0003593	Infantile onset	0	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)		60
HP:0003593	HP:0003593	Infantile onset	0	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0003593	HP:0003593	Infantile onset	0	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency		73
HP:0003593	HP:0003593	Infantile onset	0	SVIL CL E G H	6840	11480	OMIM:619040	MYOFIBRILLAR MYOPATHY 10; MFM10		1
HP:0003593	HP:0003593	Infantile onset	0	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0003593	HP:0003593	Infantile onset	0	SYNGAP1 CL E G H	8831	11497	OMIM:612621	Mental retardation, autosomal dominant 5		108
HP:0003593	HP:0003593	Infantile onset	0	SYT1 CL E G H	6857	11509	OMIM:618218	Baker-Gordon syndrome	.	1
HP:0003593	HP:0003593	Infantile onset	0	TAF13 CL E G H	6884	11546	OMIM:617432	Mental retardation, autosomal recessive 60		2
HP:0003593	HP:0003593	Infantile onset	0	TAF2 CL E G H	6873	11536	OMIM:615599	Mental retardation, autosomal recessive 40		7
HP:0003593	HP:0003593	Infantile onset	0	TAF8 CL E G H	129685	17300	OMIM:619972
HP:0003593	HP:0003593	Infantile onset	0	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome
HP:0003593	HP:0003593	Infantile onset	0	TARS2 CL E G H	80222	30740	OMIM:615918	Combined oxidative phosphorylation deficiency 21		28
HP:0003593	HP:0003593	Infantile onset	0	TBC1D24 CL E G H	57465	29203	OMIM:608105	Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp	.	271
HP:0003593	HP:0003593	Infantile onset	0	TBC1D24 CL E G H	57465	29203	OMIM:605021	Myoclonic epilepsy, familial infantile	.	271
HP:0003593	HP:0003593	Infantile onset	0	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT		16
HP:0003593	HP:0003593	Infantile onset	0	TBCE CL E G H	6905	11582	OMIM:617207	ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY; PEAMO		52
HP:0003593	HP:0003593	Infantile onset	0	TBK1 CL E G H	29110	11584	OMIM:617900	Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8		20
HP:0003593	HP:0003593	Infantile onset	0	TBL1X CL E G H	6907	11585	OMIM:301033	Hypothyroidism, congenital, nongoitrous, 8		1
HP:0003593	HP:0003593	Infantile onset	0	TBL1XR1 CL E G H	79718	29529	OMIM:616944	Mental retardation, autosomal dominant 41		22
HP:0003593	HP:0003593	Infantile onset	0	TBR1 CL E G H	10716	11590	OMIM:606053	Intellectual developmental disorder with autism and speech delay	.	1
HP:0003593	HP:0003593	Infantile onset	0	TBX19 CL E G H	9095	11596	OMIM:201400	Acth deficiency, isolated	.	57
HP:0003593	HP:0003593	Infantile onset	0	TBX21 CL E G H	30009	11599	OMIM:619630	IMMUNODEFICIENCY 88; IMD88		1
HP:0003593	HP:0003593	Infantile onset	0	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities		1
HP:0003593	HP:0003593	Infantile onset	0	TCF3 CL E G H	6929	11633	OMIM:616941	Agammaglobulinemia 8, autosomal dominant	.	2
HP:0003593	HP:0003593	Infantile onset	0	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0003593	HP:0003593	Infantile onset	0	TCIRG1 CL E G H	10312	11647	OMIM:259700	Osteopetrosis, autosomal recessive 1		82
HP:0003593	HP:0003593	Infantile onset	0	TCTN2 CL E G H	79867	25774	OMIM:616654	Joubert syndrome 24	.	76
HP:0003593	HP:0003593	Infantile onset	0	TECR CL E G H	9524	4551	OMIM:614020	Mental retardation, autosomal recessive 14		17
HP:0003593	HP:0003593	Infantile onset	0	TET2 CL E G H	54790	25941	OMIM:619126	IMMUNODEFICIENCY 75; IMD75		3
HP:0003593	HP:0003593	Infantile onset	0	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis		13
HP:0003593	HP:0003593	Infantile onset	0	TGFBI CL E G H	7045	11771	OMIM:608470	Corneal dystrophy, Reis-Bucklers type		58
HP:0003593	HP:0003593	Infantile onset	0	TGM3 CL E G H	7053	11779	OMIM:617251	Uncombable hair syndrome 2	.	1
HP:0003593	HP:0003593	Infantile onset	0	TH CL E G H	7054	11782	OMIM:605407	Segawa syndrome, autosomal recessive	.	80
HP:0003593	HP:0003593	Infantile onset	0	THOC6 CL E G H	79228	28369	OMIM:613680	Beaulieu-Boycott-Innes syndrome		1
HP:0003593	HP:0003593	Infantile onset	0	THUMPD1 CL E G H	55623	23807	OMIM:619989
HP:0003593	HP:0003593	Infantile onset	0	TIAM1 CL E G H	7074	11805	OMIM:619908			2
HP:0003593	HP:0003593	Infantile onset	0	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX		1
HP:0003593	HP:0003593	Infantile onset	0	TIMMDC1 CL E G H	51300	1321	OMIM:618251	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN31		1
HP:0003593	HP:0003593	Infantile onset	0	TJP2 CL E G H	9414	11828	OMIM:615878	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 4; PFIC4		149
HP:0003593	HP:0003593	Infantile onset	0	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)	.	103
HP:0003593	HP:0003593	Infantile onset	0	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57	.	1
HP:0003593	HP:0003593	Infantile onset	0	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0003593	HP:0003593	Infantile onset	0	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16
HP:0003593	HP:0003593	Infantile onset	0	TMEM38B CL E G H	55151	25535	OMIM:615066	OSTEOGENESIS IMPERFECTA, TYPE XIV; OI14		4
HP:0003593	HP:0003593	Infantile onset	0	TMEM63C CL E G H	57156	23787	OMIM:619966
HP:0003593	HP:0003593	Infantile onset	0	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1	.	166
HP:0003593	HP:0003593	Infantile onset	0	TMTC3 CL E G H	160418	26899	OMIM:617255	Lissencephaly 8	.	5
HP:0003593	HP:0003593	Infantile onset	0	TMX2 CL E G H	51075	30739	OMIM:618730	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY; NEDMCMS		2
HP:0003593	HP:0003593	Infantile onset	0	TNFAIP3 CL E G H	7128	11896	OMIM:616744	AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL		26
HP:0003593	HP:0003593	Infantile onset	0	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7		72
HP:0003593	HP:0003593	Infantile onset	0	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset		44
HP:0003593	HP:0003593	Infantile onset	0	TNFSF11 CL E G H	8600	11926	OMIM:259710	Osteopetrosis, autosomal recessive 2		44
HP:0003593	HP:0003593	Infantile onset	0	TNIK CL E G H	23043	30765	OMIM:617028	Mental retardation, autosomal recessive 54		2
HP:0003593	HP:0003593	Infantile onset	0	TNNT2 CL E G H	7139	11949	OMIM:601494	Cardiomyopathy, dilated, 1D		248
HP:0003593	HP:0003593	Infantile onset	0	TNPO2 CL E G H	30000	19998	OMIM:619556	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0003593	HP:0003593	Infantile onset	0	TNR CL E G H	7143	11953	OMIM:619653	NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO		7
HP:0003593	HP:0003593	Infantile onset	0	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0003593	HP:0003593	Infantile onset	0	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0003593	HP:0003593	Infantile onset	0	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3		140
HP:0003593	HP:0003593	Infantile onset	0	TPK1 CL E G H	27010	17358	OMIM:614458	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)		21
HP:0003593	HP:0003593	Infantile onset	0	TPO CL E G H	7173	12015	OMIM:274500	Thyroid hormonogenesis, genetic defect in, 2A		92
HP:0003593	HP:0003593	Infantile onset	0	TPP2 CL E G H	7174	12016	OMIM:619220	IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0003593	HP:0003593	Infantile onset	0	TRAC CL E G H	28755	12029	OMIM:615387	T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY	.	1
HP:0003593	HP:0003593	Infantile onset	0	TRAPPC2L CL E G H	51693	30887	OMIM:618331	Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis	.
HP:0003593	HP:0003593	Infantile onset	0	TRAPPC6B CL E G H	122553	23066	OMIM:617862	Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
HP:0003593	HP:0003593	Infantile onset	0	TRAPPC9 CL E G H	83696	30832	OMIM:613192	Mental retardation, autosomal recessive 13	.	158
HP:0003593	HP:0003593	Infantile onset	0	TRDN CL E G H	10345	12261	OMIM:615441	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS; CPVT5		145
HP:0003593	HP:0003593	Infantile onset	0	TREX1 CL E G H	11277	12269	OMIM:610448	Chilblain lupus 1		56
HP:0003593	HP:0003593	Infantile onset	0	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism		78
HP:0003593	HP:0003593	Infantile onset	0	TRIO CL E G H	7204	12303	OMIM:618825	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63		8
HP:0003593	HP:0003593	Infantile onset	0	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44		8
HP:0003593	HP:0003593	Infantile onset	0	TRIOBP CL E G H	11078	17009	OMIM:609823	Deafness, autosomal recessive 28	.	154
HP:0003593	HP:0003593	Infantile onset	0	TRIP13 CL E G H	9319	12307	OMIM:617598	Mosaic variegated aneuploidy syndrome 3		2
HP:0003593	HP:0003593	Infantile onset	0	TRIT1 CL E G H	54802	20286	OMIM:617873	Combined oxidative phosphorylation deficiency 35	.	12
HP:0003593	HP:0003593	Infantile onset	0	TRMT1 CL E G H	55621	25980	OMIM:618302	Intellectual developmental disorder, autosomal recessive 68	.	1
HP:0003593	HP:0003593	Infantile onset	0	TRMU CL E G H	55687	25481	OMIM:613070	Liver failure, infantile, transient		101
HP:0003593	HP:0003593	Infantile onset	0	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency
HP:0003593	HP:0003593	Infantile onset	0	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency
HP:0003593	HP:0003593	Infantile onset	0	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD		28
HP:0003593	HP:0003593	Infantile onset	0	TRPA1 CL E G H	8989	497	OMIM:615040	Episodic pain syndrome, familial, 1	.	1
HP:0003593	HP:0003593	Infantile onset	0	TRPM6 CL E G H	140803	17995	OMIM:602014	Hypomagnesemia 1, intestinal	.	85
HP:0003593	HP:0003593	Infantile onset	0	TRPV4 CL E G H	59341	18083	OMIM:168400	Parastremmatic dwarfism		214
HP:0003593	HP:0003593	Infantile onset	0	TRPV4 CL E G H	59341	18083	OMIM:184252	Spondylometaphyseal dysplasia, Kozlowski type		214
HP:0003593	HP:0003593	Infantile onset	0	TSC1 CL E G H	7248	12362	OMIM:607341	Focal cortical dysplasia of taylor	.	1090
HP:0003593	HP:0003593	Infantile onset	0	TSC2 CL E G H	7249	12363	OMIM:607341	Focal cortical dysplasia of taylor	.	2738
HP:0003593	HP:0003593	Infantile onset	0	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2		2738
HP:0003593	HP:0003593	Infantile onset	0	TSEN15 CL E G H	116461	16791	OMIM:617026	Pontocerebellar hypoplasia, type 2F		3
HP:0003593	HP:0003593	Infantile onset	0	TSPYL1 CL E G H	7259	12382	OMIM:608800	Sudden infant death with dysgenesis of the testes syndrome		1
HP:0003593	HP:0003593	Infantile onset	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0003593	HP:0003593	Infantile onset	0	TTI2 CL E G H	80185	26262	OMIM:615541	Mental retardation, autosomal recessive 39	.	11
HP:0003593	HP:0003593	Infantile onset	0	TTN CL E G H	7273	12403	OMIM:611705	Salih myopathy	.	7128
HP:0003593	HP:0003593	Infantile onset	0	TUBB6 CL E G H	84617	20776	OMIM:617732	Facial palsy, congenital, with ptosis and velopharyngeal dysfunction	.
HP:0003593	HP:0003593	Infantile onset	0	TUBGCP2 CL E G H	10844	18599	OMIM:618737	PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS
HP:0003593	HP:0003593	Infantile onset	0	TUFM CL E G H	7284	12420	OMIM:610678	Combined oxidative phosphorylation deficiency 4	.	55
HP:0003593	HP:0003593	Infantile onset	0	TULP3 CL E G H	7289	12425	OMIM:619902
HP:0003593	HP:0003593	Infantile onset	0	TWIST1 CL E G H	7291	12428	OMIM:123100	Craniosynostosis 1		18
HP:0003593	HP:0003593	Infantile onset	0	TXN2 CL E G H	25828	17772	OMIM:616811	Combined oxidative phosphorylation deficiency 29		1
HP:0003593	HP:0003593	Infantile onset	0	TYMS CL E G H	7298	12441	OMIM:620040			1
HP:0003593	HP:0003593	Infantile onset	0	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN		7
HP:0003593	HP:0003593	Infantile onset	0	UFSP2 CL E G H	55325	25640	OMIM:620028			2
HP:0003593	HP:0003593	Infantile onset	0	UFSP2 CL E G H	55325	25640	OMIM:617974	Spondyloepimetaphyseal dysplasia, DI Rocco type		2
HP:0003593	HP:0003593	Infantile onset	0	UNC13D CL E G H	201294	23147	OMIM:608898	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3		116
HP:0003593	HP:0003593	Infantile onset	0	UNC45B CL E G H	146862	14304	OMIM:619178	MYOFIBRILLAR MYOPATHY 11; MFM11		1
HP:0003593	HP:0003593	Infantile onset	0	UPB1 CL E G H	51733	16297	OMIM:613161	Beta-Ureidopropionase deficiency	.	44
HP:0003593	HP:0003593	Infantile onset	0	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia		8
HP:0003593	HP:0003593	Infantile onset	0	USH1C CL E G H	10083	12597	OMIM:276900	Usher syndrome, type I		173
HP:0003593	HP:0003593	Infantile onset	0	USP53 CL E G H	54532	29255	OMIM:619658	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 7, WITH OR WITHOUT HEARING LOSS; PFIC7
HP:0003593	HP:0003593	Infantile onset	0	UVSSA CL E G H	57654	29304	OMIM:614640	Uv-Sensitive syndrome 3	.	3
HP:0003593	HP:0003593	Infantile onset	0	VAMP1 CL E G H	6843	12642	OMIM:618323	Myasthenic syndrome, congenital, 25, presynaptic	.	2
HP:0003593	HP:0003593	Infantile onset	0	VAMP2 CL E G H	6844	12643	OMIM:618760	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS; NEDHAHM
HP:0003593	HP:0003593	Infantile onset	0	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	.
HP:0003593	HP:0003593	Infantile onset	0	VARS2 CL E G H	57176	21642	OMIM:615917	Combined oxidative phosphorylation deficiency 20	.	56
HP:0003593	HP:0003593	Infantile onset	0	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A	.	104
HP:0003593	HP:0003593	Infantile onset	0	VHL CL E G H	7428	12687	OMIM:263400	Erythrocytosis, familial, 2		490
HP:0003593	HP:0003593	Infantile onset	0	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome		1
HP:0003593	HP:0003593	Infantile onset	0	VPS33B CL E G H	26276	12712	OMIM:620009			63
HP:0003593	HP:0003593	Infantile onset	0	VPS33B CL E G H	26276	12712	OMIM:620010			63
HP:0003593	HP:0003593	Infantile onset	0	VPS37A CL E G H	137492	24928	OMIM:614898	SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG53		7
HP:0003593	HP:0003593	Infantile onset	0	VPS41 CL E G H	27072	12713	OMIM:619389	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29
HP:0003593	HP:0003593	Infantile onset	0	VPS45 CL E G H	11311	14579	OMIM:615285	Neutropenia, severe congenital, 5, autosomal recessive	.	7
HP:0003593	HP:0003593	Infantile onset	0	VPS53 CL E G H	55275	25608	OMIM:615851	Pontocerebellar hypoplasia, type 2E		26
HP:0003593	HP:0003593	Infantile onset	0	WAC CL E G H	51322	17327	OMIM:616708	Desanto-Shinawi syndrome	.	20
HP:0003593	HP:0003593	Infantile onset	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:0003593	HP:0003593	Infantile onset	0	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0003593	HP:0003593	Infantile onset	0	WASHC4 CL E G H	23325	29174	OMIM:615817	Mental retardation, autosomal recessive 43		25
HP:0003593	HP:0003593	Infantile onset	0	WDR26 CL E G H	80232	21208	OMIM:617616	Skraban-Deardorff syndrome	.	8
HP:0003593	HP:0003593	Infantile onset	0	WDR4 CL E G H	10785	12756	OMIM:618347	Galloway-Mowat syndrome 6
HP:0003593	HP:0003593	Infantile onset	0	WDR45B CL E G H	56270	25072	OMIM:617977	Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures	.	1
HP:0003593	HP:0003593	Infantile onset	0	WDR62 CL E G H	284403	24502	OMIM:604317	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations		224
HP:0003593	HP:0003593	Infantile onset	0	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1	.	14
HP:0003593	HP:0003593	Infantile onset	0	WDR81 CL E G H	124997	26600	OMIM:610185	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2	.	27
HP:0003593	HP:0003593	Infantile onset	0	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0003593	HP:0003593	Infantile onset	0	WNK1 CL E G H	65125	14540	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	199
HP:0003593	HP:0003593	Infantile onset	0	WWOX CL E G H	51741	12799	OMIM:614322	Spinocerebellar ataxia, autosomal recessive 12		149
HP:0003593	HP:0003593	Infantile onset	0	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0003593	HP:0003593	Infantile onset	0	YIF1B CL E G H	90522	30511	OMIM:619125	KAYA-BARAKAT-MASSON SYNDROME; KABAMAS
HP:0003593	HP:0003593	Infantile onset	0	YIPF5 CL E G H	81555	24877	OMIM:619278	MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME 2; MEDS2
HP:0003593	HP:0003593	Infantile onset	0	YME1L1 CL E G H	10730	12843	OMIM:617302	Optic atrophy 11	.	2
HP:0003593	HP:0003593	Infantile onset	0	YRDC CL E G H	79693	28905	OMIM:619609	GALLOWAY-MOWAT SYNDROME 10; GAMOS10
HP:0003593	HP:0003593	Infantile onset	0	YWHAG CL E G H	7532	12852	OMIM:617665	Epileptic encephalopathy, early infantile, 56	.
HP:0003593	HP:0003593	Infantile onset	0	ZAP70 CL E G H	7535	12858	OMIM:617006	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2; ADMIO2		46
HP:0003593	HP:0003593	Infantile onset	0	ZAP70 CL E G H	7535	12858	OMIM:269840	SELECTIVE T-CELL DEFECT		46
HP:0003593	HP:0003593	Infantile onset	0	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22		16
HP:0003593	HP:0003593	Infantile onset	0	ZFYVE19 CL E G H	84936	20758	OMIM:619849
HP:0003593	HP:0003593	Infantile onset	0	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0003593	HP:0003593	Infantile onset	0	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy		83
HP:0003593	HP:0003593	Infantile onset	0	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0003593	HP:0003593	Infantile onset	0	ZMYND10 CL E G H	51364	19412	OMIM:615444	Ciliary dyskinesia, primary, 22		20
HP:0003593	HP:0003593	Infantile onset	0	ZMYND11 CL E G H	10771	16966	OMIM:616083	Mental retardation, autosomal dominant 30		24
HP:0003593	HP:0003593	Infantile onset	0	ZNF142 CL E G H	7701	12927	OMIM:618425	Neurodevelopmental disorder with impaired speech and hyperkinetic movements	.
HP:0003593	HP:0003593	Infantile onset	0	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA		68
HP:0003593	HP:0003593	Infantile onset	0	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA		4
HP:0003593	HP:0003593	Infantile onset	0	ZNF526 CL E G H	116115	29415	OMIM:619877			24
HP:0003593	HP:0003593	Infantile onset	0	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0003593	HP:0003593	Infantile onset	0	ZSWIM6 CL E G H	57688	29316	OMIM:617865	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features	.	5

Genes (1028) :AARS1 AARS2 AASS ABCB11 ABCB4 ABCC6 ABCC9 ABCD3 ABHD16A ACADSB ACADVL ACO2 ACOX1 ACOX2 ACTA1 ACTL6B ADA ADA2 ADAM22 ADAR ADAT3 ADCY3 ADCY5 ADD3 ADGRG1 ADGRV1 ADK ADNP ADSL AEBP1 AFG3L2 AGK AGO2 AGTPBP1 AGXT AIFM1 AIMP2 AKT1 ALDH18A1 ALDH5A1 ALDOA ALG11 ALG13 ALG14 ALG2 ALG8 ALPK3 ALS2 AMBN AMMECR1 AMTN ANAPC7 ANGPT2 ANK1 ANKS6 ANOS1 ANTXR1 ANTXR2 AP1S2 AP3B2 APC2 APOB ARFGEF1 ARFGEF2 ARPC1B ARPC4 ARSB ARV1 ASH1L ASNS ASPA ASS1 ATAD3A ATG5 ATG7 ATP13A3 ATP1A1 ATP1A2 ATP1A3 ATP2B1 ATP6AP1 ATP6AP2 ATP6V0A1 ATP6V0A4 ATP6V1B2 ATP7A ATP8B1 ATR AUH AUTS2 B3GALNT2 BAAT BCAS3 BCL10 BCORL1 BCS1L BICD2 BLM BLNK BOLA3 BRAT1 BRF1 BRWD3 BTD BTK C12ORF57 C2ORF69 C3 C4B CA12 CACNA1C CACNA1H CACNA1S CACNA2D2 CAD CADM3 CALM1 CAMK2A CAMK2B CAMK2G CAMTA1 CARD11 CARD14 CARMIL2 CARS2 CASK CAV1 CAVIN1 CCDC115 CCDC39 CCDC65 CD164 CD19 CD247 CD320 CD3D CD3E CD3G CD40LG CD59 CD79B CDKL5 CELF2 CEP104 CERS1 CFAP410 CFI CFTR CHAMP1 CHD1 CHD2 CHD3 CHD5 CHD8 CHKA CHMP1A CHRNA1 CHRND CHRNE CIC CLCN3 CLCN4 CLCN7 CLDN11 CLMP CLPB CLPX CLTC CNNM4 CNOT3 CNPY3 COG2 COL12A1 COL4A1 COL6A1 COL6A2 COL6A3 COL7A1 COLQ COPB1 COPB2 COQ2 COQ6 CORO1A COX10 COX4I2 COX5A COX6A2 CPLANE1 CPLX1 CPSF3 CPT2 CRB1 CRB2 CRBN CREBBP CRX CTC1 CTDP1 CTNNB1 CTNS CUL3 CUX2 CWF19L1 CXCR4 CYB561 CYB5A CYC1 CYP1B1 CYP2R1 CYP2U1 D2HGDH DAG1 DARS1 DBR1 DCC DCDC2 DCLRE1C DCX DDB1 DDC DDHD1 DDOST DDX3X DEAF1 DEF6 DGUOK DHPS DHX30 DIP2B DLAT DLD DLG4 DNAAF4 DNAAF5 DNAH5 DNM2 DOCK2 DOCK3 DOCK7 DOCK8 DOLK DPAGT1 DPF2 DPH2 DPM1 DPYD DRC1 DSC3 DST DTYMK DUT DYNC1H1 DYNC1I2 DYRK1A DZIP1L EARS2 EBF3 ECM1 EDA EDC3 EDEM3 EEF1A2 EFL1 EGR2 EHHADH EIF2AK1 EIF2AK2 EIF2AK3 EIF3F ELANE ELF4 ELOVL1 ELP2 ENPP1 EP300 EPG5 EPHB4 EPO EPRS1 ERBB2 ERCC1 ERCC2 ERCC5 ERCC6 ERCC8 ERF ETHE1 EXOC2 EXOC7 EXOSC5 EXOSC8 EXT2 FANCB FANCL FAR1 FARSB FBP2 FBXL3 FCGR2A FCGR3A FCHO1 FERMT3 FGA FGB FGF13 FGG FKTN FLNA FLT4 FMN2 FNIP1 FOCAD FOXC1 FOXP1 FOXP3 FRMD5 FRMD7 FRMPD4 FRRS1L FTSJ1 FUCA1 FYCO1 FZD4 G6PC1 G6PD GABBR2 GABRA1 GABRB1 GABRB3 GABRG2 GAD1 GALC GALNS GAMT GAN GARS1 GATA1 GATAD2B GATM GCDH GCH1 GDAP1 GEMIN4 GEMIN5 GFAP GFI1B GFPT1 GGCX GH1 GJB2 GJB3 GJC2 GLB1 GLRA1 GLS GLUD1 GMPPA GMPPB GNAS GNB1 GNB2 GNB5 GNE GNPTAB GNS GON7 GP6 GPAA1 GPD1 GPHN GPR101 GPT2 GRIA1 GRIA3 GRID2 GRIK2 GRIN1 GRIN2B GRIN2D GRM1 GTPBP2 GUCY2C GUCY2D GUSB H3-3B H4C5 H4C9 HADHA HADHB HAX1 HCFC1 HCN1 HCN2 HCN4 HCRT HDAC4 HEPACAM HERC2 HEXB HGD HIBCH HID1 HIKESHI HIVEP2 HNF1A HNMT HNRNPH2 HNRNPU HPDL HPRT1 HPS5 HSD17B10 HSPG2 HUWE1 HYDIN IARS2 IDH3A IDS IFIH1 IFITM5 IFNAR1 IFNG IFT140 IGHM IGLL1 IKBKB IKBKG IL10RB IL12B IL17RC IL21 IL2RB IL2RG IL36RN IL37 IL6R IL6ST IL7R ILDR1 IMPDH1 INPP5K IQSEC2 IREB2 IRF2BPL IRF8 ISCA1 ITGA3 ITGA7 ITPA ITPR1 JAG1 JAG2 JAGN1 JAK3 JPH1 KCNA2 KCNB1 KCNC2 KCNH1 KCNJ10 KCNMA1 KCNN2 KCNQ2 KCNQ5 KCNT2 KCTD7 KDELR2 KDM4B KDM5B KDR KIDINS220 KIF12 KIF1A KITLG KLC2 KLHL7 KMT2E KMT5B KRT14 KRT5 KRT81 KRT83 KRT86 L2HGDH LARGE1 LCA5 LCK LEPR LETM1 LGI3 LIG1 LINGO1 LINS1 LIPA LIPT1 LMAN2L LMBRD1 LMBRD2 LMNB1 LRIG2 LRP5 LRPPRC LRRK1 LTBP1 LYRM7 LYSET LYST MACF1 MAFB MAGEL2 MANBA MAP2K2 MAPK8IP3 MARS1 MAST1 MATN3 MBD5 MBOAT7 MCCC1 MCCC2 MCEE MCOLN1 MDH2 MECP2 MED12 MED13L MEF2C MEFV METTL23 MFF MFN2 MIA3 MICOS13 MID2 MIPEP MLC1 MLIP MMAA MMACHC MMADHC MMP1 MMP14 MMP2 MMP9 MPDU1 MPI MPV17 MPZ MRPL3 MRPL44 MRPS2 MRPS25 MRPS34 MRPS7 MTFMT MTMR14 MTOR MTR MTRR MTSS2 MTX2 MUSK MVK MYH7 MYMK MYMX MYO5A MYO5B MYO7A MYT1L NAA20 NACC1 NAGA NAPB NARS1 NARS2 NAXD NAXE NBAS NBEA NCDN NCKAP1L NDP NDST1 NDUFA10 NDUFA12 NDUFA13 NDUFA6 NDUFA8 NDUFAF1 NDUFAF3 NDUFAF6 NDUFAF8 NDUFB8 NDUFB9 NDUFC2 NDUFS1 NDUFS2 NDUFS4 NDUFV1 NDUFV2 NEB NEFL NEMF NEUROD2 NEXMIF NF1 NFE2L2 NFKBIA NFU1 NGF NGLY1 NKX2-1 NKX6-2 NLRC4 NLRP1 NLRP12 NLRP3 NMNAT1 NOS1AP NOTCH2NLC NPHP3 NR0B1 NR1H4 NR4A2 NSD2 NSRP1 NSUN2 NSUN3 NTRK1 NUP214 NUP62 OAS1 OCLN OGDH OGDHL OPA1 OPHN1 OSTM1 OTC OTULIN P4HB P4HTM PAK1 PANK2 PARN PC PCDH12 PCDH15 PCDH19 PCDHGC4 PCK1 PDE10A PDE2A PDGFRB PDHA1 PDP1 PDZD8 PERP PET100 PEX1 PEX16 PEX2 PGAP1 PGAP3 PHEX PHIP PHKA2 PHKB PHKG2 PHOX2B PI4KA PIDD1 PIGA PIGG PIGK PIGM PIGP PIGS PIGT PIK3CD PIK3R1 PINK1 PITRM1 PKHD1 PLCB1 PLCG2 PLEKHG2 PLG PLP1 PLPBP PMM2 PMP22 PMPCA PNKD PNP PNPLA8 PNPT1 POC1B POGZ POLG POLR1C POLR3A POLR3B POLR3K POLRMT POMC POMK POMT1 POMT2 POU1F1 PPA2 PPCS PPP2CA PPP3CA PRDM12 PRDM13 PRDX1 PRF1 PRKAR1B PRKDC PRKG2 PRMT7 PROC PRRT2 PRX PSAP PSMB8 PSMC1 PSMD12 PSMG2 PSPH PTCHD1 PTH PTPRC PTPRQ PTS PURA PUS3 PUS7 PYROXD1 QDPR RAB27A RAC1 RAG1 RAG2 RANBP2 RASGRP2 RBCK1 RDX RERE REST RETREG1 RFT1 RIN2 RINT1 RIPK1 RLIM RMRP RNASEH2A RNASET2 RNU4ATAC ROBO3 ROR1 RORB RORC RPE65 RPGRIP1L RPL35A RPL3L RPS10 RPS19 RPS26 RPS29 RPSA RSRC1 RUBCN RUSC2 RYR1 S1PR2 SACS SAR1B SARS1 SARS2 SASH1 SATB2 SCN1A SCN2A SCN3A SCN4A SCN8A SCN9A SCO2 SDHA SDHAF1 SDHB SDHD SEC23B SELENBP1 SELENON SEMA7A SEPSECS SET SETBP1 SETD1A SETD5 SGCD SGPL1 SH3TC2 SHQ1 SI SIL1 SIN3A SKIC2 SLC12A5 SLC12A6 SLC16A1 SLC18A2 SLC1A2 SLC1A3 SLC1A4 SLC25A1 SLC25A12 SLC25A26 SLC25A38 SLC2A1 SLC30A9 SLC33A1 SLC34A3 SLC35A1 SLC37A4 SLC38A3 SLC39A14 SLC39A4 SLC39A7 SLC41A1 SLC46A1 SLC51A SLC5A6 SLC5A7 SLC6A3 SLC6A6 SLC6A8 SLC7A7 SLURP1 SMARCA4 SMG9 SMN1 SMPD1 SNAP29 SNORD118 SNX14 SOBP SOD1 SON SOST SOX18 SOX6 SP7 SPATA5 SPATA5L1 SPATA7 SPEG SPR SPRED2 SPTAN1 SPTBN2 SRCAP SRD5A3 STAG1 STAT2 STAT3 STEAP3 STING1 STS STT3A STX11 STXBP1 STXBP2 SUCLA2 SUCLG1 SUPT16H SURF1 SVIL SYK SYNGAP1 SYT1 TAF13 TAF2 TAF8 TAFAZZIN TARS2 TBC1D24 TBCD TBCE TBK1 TBL1X TBL1XR1 TBR1 TBX19 TBX21 TCF20 TCF3 TCIRG1 TCTN2 TECR TET2 TGFB1 TGFBI TGM3 TH THOC6 THUMPD1 TIAM1 TIMM50 TIMMDC1 TJP2 TK2 TLK2 TLR8 TMEM106B TMEM38B TMEM63C TMEM67 TMTC3 TMX2 TNFAIP3 TNFRSF11A TNFRSF11B TNFSF11 TNIK TNNT2 TNPO2 TNR TOGARAM1 TOM1 TP63 TPK1 TPO TPP2 TRAC TRAPPC2L TRAPPC6B TRAPPC9 TRDN TREX1 TRIM37 TRIO TRIOBP TRIP13 TRIT1 TRMT1 TRMU TRNN TRNS1 TRNT1 TRPA1 TRPM6 TRPV4 TSC1 TSC2 TSEN15 TSPYL1 TTC26 TTI2 TTN TUBB6 TUBGCP2 TUFM TULP3 TWIST1 TXN2 TYMS UBE2A UFSP2 UNC13D UNC45B UPB1 USB1 USH1C USP53 UVSSA VAMP1 VAMP2 VARS1 VARS2 VDR VHL VPS33A VPS33B VPS37A VPS41 VPS45 VPS53 WAC WARS2 WAS WASHC4 WDR26 WDR4 WDR45B WDR62 WDR73 WDR81 WLS WNK1 WWOX YARS1 YIF1B YIPF5 YME1L1 YRDC YWHAG ZAP70 ZBTB18 ZFYVE19 ZMIZ1 ZMPSTE24 ZMYM2 ZMYND10 ZMYND11 ZNF142 ZNF407 ZNF462 ZNF526 ZNFX1 ZSWIM6

Diseases (1065) :OMIM:616339 OMIM:619691 OMIM:614096 OMIM:238700 OMIM:601847 OMIM:602347 OMIM:614473 OMIM:619719 OMIM:616278 OMIM:619735 OMIM:610006 OMIM:201475 OMIM:614559 OMIM:264470 OMIM:617308 OMIM:616852 OMIM:618470 OMIM:102700 OMIM:182410 OMIM:615688 OMIM:617933 OMIM:615010 OMIM:127400 OMIM:615286 OMIM:617885 OMIM:606703 OMIM:619651 OMIM:617008 OMIM:615752 OMIM:604352 OMIM:614300 OMIM:615873 OMIM:103050 OMIM:618000 OMIM:614487 OMIM:212350 OMIM:619149 OMIM:618276 OMIM:259900 OMIM:300816 OMIM:618006 OMIM:176920 OMIM:616586 OMIM:271980 OMIM:611881 OMIM:613661 OMIM:300884 OMIM:619031 OMIM:607906 OMIM:608104 OMIM:618052 OMIM:607225 OMIM:616270 OMIM:300990 OMIM:617607 OMIM:619699 OMIM:619369 OMIM:182900 OMIM:615382 OMIM:308700 OMIM:602089 OMIM:228600 OMIM:304340 OMIM:617276 OMIM:618677 OMIM:617169 OMIM:615558 OMIM:619964 OMIM:608097 OMIM:617718 OMIM:620141 OMIM:253200 OMIM:617020 OMIM:617796 OMIM:615574 OMIM:271900 OMIM:215700 OMIM:617183 OMIM:617584 OMIM:619422 OMIM:265400 OMIM:618314 OMIM:619605 OMIM:601338 OMIM:619606 OMIM:619910 OMIM:300972 OMIM:301045 OMIM:300423 OMIM:619971 OMIM:619970 OMIM:602722 OMIM:616455 OMIM:309400 OMIM:211600 OMIM:614564 OMIM:250950 OMIM:615834 OMIM:615181 OMIM:619232 OMIM:619641 OMIM:616098 OMIM:301029 OMIM:262000 OMIM:615290 OMIM:210900 OMIM:613502 OMIM:614299 OMIM:618056 OMIM:614498 OMIM:616202 OMIM:300659 OMIM:253260 OMIM:300755 OMIM:218340 OMIM:619423 OMIM:613779 OMIM:612925 OMIM:614379 OMIM:143860 OMIM:620029 OMIM:617027 OMIM:170400 OMIM:618501 OMIM:616457 OMIM:619519 OMIM:616247 OMIM:617798 OMIM:618095 OMIM:617799 OMIM:618522 OMIM:614756 OMIM:615206 OMIM:173200 OMIM:618131 OMIM:616672 OMIM:300908 OMIM:612526 OMIM:613327 OMIM:616828 OMIM:613807 OMIM:615504 OMIM:616969 OMIM:613493 OMIM:610163 OMIM:613646 OMIM:615617 OMIM:615615 OMIM:615607 OMIM:308230 OMIM:612300 OMIM:612692 OMIM:300672 OMIM:619561 OMIM:619988 OMIM:616781 OMIM:616230 OMIM:602271 OMIM:610984 OMIM:219700 OMIM:616579 OMIM:617682 OMIM:615369 OMIM:618205 OMIM:619873 OMIM:615032 OMIM:620023 OMIM:614961 OMIM:601462 OMIM:608930 OMIM:616321 OMIM:616322 OMIM:616324 OMIM:608931 OMIM:617600 OMIM:619517 OMIM:300114 OMIM:611490 OMIM:619328 OMIM:615237 OMIM:616271 OMIM:619835 OMIM:619813 OMIM:618015 OMIM:617854 OMIM:217080 OMIM:618672 OMIM:617929 OMIM:617395 OMIM:616470 OMIM:175780 OMIM:254090 OMIM:226600 OMIM:603034 OMIM:619255 OMIM:619884 OMIM:607426 OMIM:614650 OMIM:615401 OMIM:619046 OMIM:612714 OMIM:619064 OMIM:619062 OMIM:614615 OMIM:617976 OMIM:619876 OMIM:600649 OMIM:613835 OMIM:616220 OMIM:607417 OMIM:180849 OMIM:613829 OMIM:612199 OMIM:604168 OMIM:615075 OMIM:219800 OMIM:619239 OMIM:618141 OMIM:616127 OMIM:193670 OMIM:618182 OMIM:250790 OMIM:615453 OMIM:231300 OMIM:600081 OMIM:615030 OMIM:600721 OMIM:616538 OMIM:615281 OMIM:619441 OMIM:617542 OMIM:617394 OMIM:602450 OMIM:300067 OMIM:619426 OMIM:608643 OMIM:609340 OMIM:614507 OMIM:300958 OMIM:617171 OMIM:619573 OMIM:251880 OMIM:618480 OMIM:617804 OMIM:136630 OMIM:245348 OMIM:246900 OMIM:618793 OMIM:615482 OMIM:614874 OMIM:608644 OMIM:160150 OMIM:616433 OMIM:618292 OMIM:615859 OMIM:243700 OMIM:610768 OMIM:614750 OMIM:618027 OMIM:620062 OMIM:608799 OMIM:274270 OMIM:615294 OMIM:613102 OMIM:615425 OMIM:619847 OMIM:620044 OMIM:614563 OMIM:618492 OMIM:614104 OMIM:617610 OMIM:614924 OMIM:617330 OMIM:247100 OMIM:305100 OMIM:616460 OMIM:619493 OMIM:616409 OMIM:617941 OMIM:145900 OMIM:615605 OMIM:618878 OMIM:618877 OMIM:226980 OMIM:618295 OMIM:202700 OMIM:301074 OMIM:618527 OMIM:617270 OMIM:615522 OMIM:613684 OMIM:242840 OMIM:618196 OMIM:617911 OMIM:617951 OMIM:619465 OMIM:610758 OMIM:601675 OMIM:278780 OMIM:133540 OMIM:600630 OMIM:216400 OMIM:614621 OMIM:600775 OMIM:602473 OMIM:619306 OMIM:619072 OMIM:619576 OMIM:616081 OMIM:133701 OMIM:616682 OMIM:300514 OMIM:614083 OMIM:619338 OMIM:613658 OMIM:619864 OMIM:606220 OMIM:615707 OMIM:619164 OMIM:612840 OMIM:202400 OMIM:301058 OMIM:253800 OMIM:613152 OMIM:611588 OMIM:300048 OMIM:616193 OMIM:619705 OMIM:619991 OMIM:601631 OMIM:613670 OMIM:304790 OMIM:620094 OMIM:310700 OMIM:300983 OMIM:616981 OMIM:309549 OMIM:230000 OMIM:610019 OMIM:133780 OMIM:232200 OMIM:617904 OMIM:615744 OMIM:617153 OMIM:617113 OMIM:618396 OMIM:619124 OMIM:245200 OMIM:253000 OMIM:612736 OMIM:256850 OMIM:619042 OMIM:300835 OMIM:300367 OMIM:615074 OMIM:612718 OMIM:231670 OMIM:233910 OMIM:607831 OMIM:214400 OMIM:617913 OMIM:619333 OMIM:203450 OMIM:187900 OMIM:277450 OMIM:262400 OMIM:602540 OMIM:133200 OMIM:608804 OMIM:230500 OMIM:149400 OMIM:618339 OMIM:606762 OMIM:615510 OMIM:615351 OMIM:166350 OMIM:103580 OMIM:616973 OMIM:619503 OMIM:617182 OMIM:269921 OMIM:252500 OMIM:252940 OMIM:619603 OMIM:614201 OMIM:617810 OMIM:614480 OMIM:300942 OMIM:616281 OMIM:619931 OMIM:619927 OMIM:300699 OMIM:616204 OMIM:611092 OMIM:614254 OMIM:617820 OMIM:616139 OMIM:617162 OMIM:614831 OMIM:617988 OMIM:614616 OMIM:204000 OMIM:253220 OMIM:619721 OMIM:619950 OMIM:619951 OMIM:609015 OMIM:610738 OMIM:309541 OMIM:615871 OMIM:602477 OMIM:619521 OMIM:161400 OMIM:619797 OMIM:604004 OMIM:613925 OMIM:615516 OMIM:268800 OMIM:203500 OMIM:250620 OMIM:619983 OMIM:616881 OMIM:616977 OMIM:600496 OMIM:616739 OMIM:300986 OMIM:617391 OMIM:619026 OMIM:300322 OMIM:614074 OMIM:300438 OMIM:255800 OMIM:309590 OMIM:608647 OMIM:616007 OMIM:619007 OMIM:309900 OMIM:615846 OMIM:619773 OMIM:182250 OMIM:610967 OMIM:619935 OMIM:613254 OMIM:266920 OMIM:601495 OMIM:613500 OMIM:615592 OMIM:301081 OMIM:300636 OMIM:612567 OMIM:614890 OMIM:616445 OMIM:615767 OMIM:618495 OMIM:300400 OMIM:614204 OMIM:619398 OMIM:618944 OMIM:619752 OMIM:619750 OMIM:608971 OMIM:609646 OMIM:180105 OMIM:617404 OMIM:309530 OMIM:618451 OMIM:618088 OMIM:226990 OMIM:617613 OMIM:614748 OMIM:613204 OMIM:616647 OMIM:206700 OMIM:117360 OMIM:118450 OMIM:619566 OMIM:616022 OMIM:600802 OMIM:616366 OMIM:616056 OMIM:619913 OMIM:611816 OMIM:612780 OMIM:617643 OMIM:618729 OMIM:619725 OMIM:613720 OMIM:617601 OMIM:617771 OMIM:611726 OMIM:619131 OMIM:619320 OMIM:618109 OMIM:617296 OMIM:619662 OMIM:201300 OMIM:145250 OMIM:609541 OMIM:617055 OMIM:618512 OMIM:617788 OMIM:601001 OMIM:131900 OMIM:131960 OMIM:158000 OMIM:236792 OMIM:608840 OMIM:604537 OMIM:615758 OMIM:614963 OMIM:620089 OMIM:620007 OMIM:619774 OMIM:618103 OMIM:614340 OMIM:278000 OMIM:616299 OMIM:617863 OMIM:616887 OMIM:277380 OMIM:619694 OMIM:619179 OMIM:615112 OMIM:601813 OMIM:220111 OMIM:615198 OMIM:619451 OMIM:615838 OMIM:619345 OMIM:214500 OMIM:618325 OMIM:166300 OMIM:615547 OMIM:248510 OMIM:615280 OMIM:618443 OMIM:615486 OMIM:619692 OMIM:618273 OMIM:608728 OMIM:156200 OMIM:617188 OMIM:210200 OMIM:210210 OMIM:251120 OMIM:252650 OMIM:617339 OMIM:300055 OMIM:309520 OMIM:616789 OMIM:613443 OMIM:249100 OMIM:615942 OMIM:617086 OMIM:601152 OMIM:619269 OMIM:618329 OMIM:300928 OMIM:617228 OMIM:620138 OMIM:251100 OMIM:277400 OMIM:277410 OMIM:277950 OMIM:259600 OMIM:613073 OMIM:609180 OMIM:602579 OMIM:256810 OMIM:618184 OMIM:614582 OMIM:615395 OMIM:617950 OMIM:619025 OMIM:617664 OMIM:617872 OMIM:618248 OMIM:607341 OMIM:250940 OMIM:236270 OMIM:620086 OMIM:619127 OMIM:616325 OMIM:260920 OMIM:610377 OMIM:613426 OMIM:160500 OMIM:254940 OMIM:619941 OMIM:214450 OMIM:619868 OMIM:276900 OMIM:616521 OMIM:619717 OMIM:617393 OMIM:609241 OMIM:620033 OMIM:619091 OMIM:616239 OMIM:618321 OMIM:617186 OMIM:616483 OMIM:619157 OMIM:619373 OMIM:618982 OMIM:305390 OMIM:310600 OMIM:616116 OMIM:618243 OMIM:618244 OMIM:618249 OMIM:618253 OMIM:619272 OMIM:618234 OMIM:618240 OMIM:618239 OMIM:618776 OMIM:618252 OMIM:618245 OMIM:619170 OMIM:618226 OMIM:618228 OMIM:252010 OMIM:618225 OMIM:618229 OMIM:256030 OMIM:607734 OMIM:619099 OMIM:618374 OMIM:300912 OMIM:162200 OMIM:617744 OMIM:612132 OMIM:605711 OMIM:608654 OMIM:615273 OMIM:118700 OMIM:617560 OMIM:616115 OMIM:617388 OMIM:611762 OMIM:607115 OMIM:120100 OMIM:608553 OMIM:619260 OMIM:619155 OMIM:619473 OMIM:208540 OMIM:300200 OMIM:617049 OMIM:619911 OMIM:619695 OMIM:620001 OMIM:611091 OMIM:619012 OMIM:256800 OMIM:618426 OMIM:271930 OMIM:618042 OMIM:251290 OMIM:203740 OMIM:619701 OMIM:210000 OMIM:300486 OMIM:259720 OMIM:311250 OMIM:617099 OMIM:112240 OMIM:618493 OMIM:618158 OMIM:234200 OMIM:616353 OMIM:266150 OMIM:251280 OMIM:609533 OMIM:300088 OMIM:619880 OMIM:261680 OMIM:616921 OMIM:619150 OMIM:228550 OMIM:312170 OMIM:608782 OMIM:620021 OMIM:619208 OMIM:619055 OMIM:214100 OMIM:614877 OMIM:614867 OMIM:615802 OMIM:615716 OMIM:307800 OMIM:617991 OMIM:306000 OMIM:261750 OMIM:613027 OMIM:209880 OMIM:619708 OMIM:619621 OMIM:619827 OMIM:301072 OMIM:616917 OMIM:618879 OMIM:610293 OMIM:617599 OMIM:618143 OMIM:615398 OMIM:619281 OMIM:615214 OMIM:616005 OMIM:605909 OMIM:619405 OMIM:263200 OMIM:613722 OMIM:614878 OMIM:614468 OMIM:616763 OMIM:217090 OMIM:312080 OMIM:312920 OMIM:617290 OMIM:212065 OMIM:213200 OMIM:118800 OMIM:613179 OMIM:251950 OMIM:614932 OMIM:615973 OMIM:616364 OMIM:203700 OMIM:613662 OMIM:616494 OMIM:607694 OMIM:619742 OMIM:619310 OMIM:619743 OMIM:609734 OMIM:616094 OMIM:613155 OMIM:609308 OMIM:613158 OMIM:613038 OMIM:617222 OMIM:618189 OMIM:618354 OMIM:617711 OMIM:616488 OMIM:619761 OMIM:603553 OMIM:619680 OMIM:615966 OMIM:619638 OMIM:617157 OMIM:612304 OMIM:605751 OMIM:611722 OMIM:256040 OMIM:620071 OMIM:617516 OMIM:619183 OMIM:614023 OMIM:300830 OMIM:146200 OMIM:619924 OMIM:613391 OMIM:261640 OMIM:616158 OMIM:617051 OMIM:618342 OMIM:617258 OMIM:261630 OMIM:607624 OMIM:617751 OMIM:233650 OMIM:608033 OMIM:615888 OMIM:615895 OMIM:611022 OMIM:616975 OMIM:616806 OMIM:612015 OMIM:613075 OMIM:618641 OMIM:618108 OMIM:300978 OMIM:250250 OMIM:610333 OMIM:612951 OMIM:210710 OMIM:607313 OMIM:617654 OMIM:618357 OMIM:616622 OMIM:204100 OMIM:619113 OMIM:612528 OMIM:619371 OMIM:613308 OMIM:105650 OMIM:613309 OMIM:615909 OMIM:271400 OMIM:618402 OMIM:615705 OMIM:617773 OMIM:117000 OMIM:610419 OMIM:270550 OMIM:246700 OMIM:617709 OMIM:613845 OMIM:127500 OMIM:612313 OMIM:619317 OMIM:607208 OMIM:613721 OMIM:617938 OMIM:170500 OMIM:614198 OMIM:168300 OMIM:614558 OMIM:604377 OMIM:613642 OMIM:252011 OMIM:619166 OMIM:619224 OMIM:619167 OMIM:224100 OMIM:618148 OMIM:602771 OMIM:619874 OMIM:613811 OMIM:618106 OMIM:616078 OMIM:619056 OMIM:615761 OMIM:606685 OMIM:617575 OMIM:601596 OMIM:619922 OMIM:619921 OMIM:222900 OMIM:248800 OMIM:613406 OMIM:614602 OMIM:616645 OMIM:620068 OMIM:616095 OMIM:618049 OMIM:617105 OMIM:612656 OMIM:616657 OMIM:618197 OMIM:612949 OMIM:616794 OMIM:205950 OMIM:606777 OMIM:612126 OMIM:608885 OMIM:617595 OMIM:614482 OMIM:241530 OMIM:603585 OMIM:619525 OMIM:232220 OMIM:619881 OMIM:617013 OMIM:201100 OMIM:619693 OMIM:619468 OMIM:229050 OMIM:619484 OMIM:618973 OMIM:617143 OMIM:613135 OMIM:145350 OMIM:300352 OMIM:222700 OMIM:248300 OMIM:613325 OMIM:619995 OMIM:253300 OMIM:257200 OMIM:609528 OMIM:614561 OMIM:616354 OMIM:613671 OMIM:618598 OMIM:617140 OMIM:122860 OMIM:137940 OMIM:618971 OMIM:613849 OMIM:616577 OMIM:619616 OMIM:604232 OMIM:615959 OMIM:612716 OMIM:619745 OMIM:613477 OMIM:600224 OMIM:615386 OMIM:619595 OMIM:136140 OMIM:612379 OMIM:617635 OMIM:616636 OMIM:615952 OMIM:147060 OMIM:615234 OMIM:615934 OMIM:308100 OMIM:615596 OMIM:619714 OMIM:603552 OMIM:612164 OMIM:613101 OMIM:612073 OMIM:245400 OMIM:619480 OMIM:220110 OMIM:619040 OMIM:619381 OMIM:612621 OMIM:618218 OMIM:617432 OMIM:615599 OMIM:619972 OMIM:302060 OMIM:615918 OMIM:608105 OMIM:605021 OMIM:617193 OMIM:617207 OMIM:617900 OMIM:301033 OMIM:616944 OMIM:606053 OMIM:201400 OMIM:619630 OMIM:618430 OMIM:616941 OMIM:619824 OMIM:259700 OMIM:616654 OMIM:614020 OMIM:619126 OMIM:608470 OMIM:617251 OMIM:605407 OMIM:613680 OMIM:619989 OMIM:619908 OMIM:617698 OMIM:618251 OMIM:615878 OMIM:609560 OMIM:618050 OMIM:301078 OMIM:617964 OMIM:615066 OMIM:619966 OMIM:216360 OMIM:617255 OMIM:618730 OMIM:616744 OMIM:612301 OMIM:239000 OMIM:259710 OMIM:617028 OMIM:601494 OMIM:619556 OMIM:619653 OMIM:619185 OMIM:619510 OMIM:604292 OMIM:614458 OMIM:274500 OMIM:619220 OMIM:615387 OMIM:618331 OMIM:617862 OMIM:613192 OMIM:615441 OMIM:610448 OMIM:253250 OMIM:618825 OMIM:617061 OMIM:609823 OMIM:617598 OMIM:617873 OMIM:618302 OMIM:613070 OMIM:616084 OMIM:615040 OMIM:602014 OMIM:168400 OMIM:184252 OMIM:617026 OMIM:608800 OMIM:619534 OMIM:615541 OMIM:611705 OMIM:617732 OMIM:618737 OMIM:610678 OMIM:619902 OMIM:123100 OMIM:616811 OMIM:620040 OMIM:300860 OMIM:620028 OMIM:617974 OMIM:608898 OMIM:619178 OMIM:613161 OMIM:604173 OMIM:619658 OMIM:614640 OMIM:618323 OMIM:618760 OMIM:617802 OMIM:615917 OMIM:277440 OMIM:263400 OMIM:617303 OMIM:620009 OMIM:620010 OMIM:614898 OMIM:619389 OMIM:615285 OMIM:615851 OMIM:616708 OMIM:617710 OMIM:301000 OMIM:615817 OMIM:617616 OMIM:618347 OMIM:617977 OMIM:604317 OMIM:251300 OMIM:610185 OMIM:619648 OMIM:614322 OMIM:619418 OMIM:619125 OMIM:619278 OMIM:617302 OMIM:619609 OMIM:617665 OMIM:617006 OMIM:269840 OMIM:612337 OMIM:619849 OMIM:618659 OMIM:608612 OMIM:619522 OMIM:615444 OMIM:616083 OMIM:618425 OMIM:619557 OMIM:618619 OMIM:619877 OMIM:619644 OMIM:617865

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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