Human Phenotype Ontology 
Grandparent Node:
expand
Clinical course (HP:0031797)help
Parent Node:
expand
Onset (HP:0003674)help
..Starting node
..expand
Infantile onset (HP:0003593)help
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: 
..expandAdult onset (HP:0003581) help
..expandAntenatal onset (HP:0030674) help
..expandChildhood onset (HP:0011463) help
..expandCongenital onset (HP:0003577) help
..expandJuvenile onset (HP:0003621) help
..expandNeonatal onset (HP:0003623) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0003593HP:0003593Infantile onset0AASS CL E G H10157238700Hyperlysinemia238700C0268553OMIM110817366605113
HP:0003593HP:0003593Infantile onset0AASS CL E G H10157238700Hyperlysinemia238700C0268553OMIM19717366605113
HP:0003593HP:0003593Infantile onset0ABCB11 CL E G H8647601847Progressive familial intrahepatic cholestasis 2601847C3489789OMIM180842603201
HP:0003593HP:0003593Infantile onset0ABCB11 CL E G H8647601847Progressive familial intrahepatic cholestasis 2601847C3489789OMIM176242603201
HP:0003593HP:0003593Infantile onset0ABCB4 CL E G H5244602347Progressive familial intrahepatic cholestasis 3602347C1865643OMIM142545171060
HP:0003593HP:0003593Infantile onset0ABCB4 CL E G H5244602347Progressive familial intrahepatic cholestasis 3602347C1865643OMIM141245171060
HP:0003593HP:0003593Infantile onset0ABCD3 CL E G H5825616278Bile acid synthesis defect, congenital, 5616278C4225390OMIM13767170995
HP:0003593HP:0003593Infantile onset0ABCD3 CL E G H5825616278Bile acid synthesis defect, congenital, 5616278C4225390OMIM12867170995
HP:0003593HP:0003593Infantile onset0ACADSB CL E G H36610006Deficiency of 2-methylbutyryl-CoA dehydrogenase610006C1864912OMIM129091600301
HP:0003593HP:0003593Infantile onset0ACADSB CL E G H36610006Deficiency of 2-methylbutyryl-CoA dehydrogenase610006C1864912OMIM127591600301
HP:0003593HP:0003593Infantile onset0ACO2 CL E G H50614559Infantile cerebellar-retinal degeneration614559C3281192OMIM1284118100850
HP:0003593HP:0003593Infantile onset0ACO2 CL E G H50614559Infantile cerebellar-retinal degeneration614559C3281192OMIM1410118100850
HP:0003593HP:0003593Infantile onset0ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1435119609751
HP:0003593HP:0003593Infantile onset0ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1388119609751
HP:0003593HP:0003593Infantile onset0ACOX2 CL E G H8309617308Bile acid synthesis defect, congenital, 6617308C4310624OMIM158120601641
HP:0003593HP:0003593Infantile onset0ACOX2 CL E G H8309617308Bile acid synthesis defect, congenital, 6617308C4310624OMIM141120601641
HP:0003593HP:0003593Infantile onset0ADAM22 CL E G H53616617933Early infantile epileptic encephalopathy 61617933CN244550OMIM148201603709
HP:0003593HP:0003593Infantile onset0ADAR CL E G H103127400Symmetrical dyschromatosis of extremities127400C0406775OMIM1654225146920
HP:0003593HP:0003593Infantile onset0ADAR CL E G H103127400Symmetrical dyschromatosis of extremities127400C0406775OMIM1471225146920
HP:0003593HP:0003593Infantile onset0ADAT3 CL E G H113179615286Mental retardation, autosomal recessive 36615286C3809039OMIM18525151615302
HP:0003593HP:0003593Infantile onset0ADAT3 CL E G H113179615286Mental retardation, autosomal recessive 36615286C3809039OMIM17625151615302
HP:0003593HP:0003593Infantile onset0ADD3 CL E G H120617008Cerebral palsy, spastic quadriplegic, 3617008C4310767OMIM188245601568
HP:0003593HP:0003593Infantile onset0ADD3 CL E G H120617008Cerebral palsy, spastic quadriplegic, 3617008C4310767OMIM152245601568
HP:0003593HP:0003593Infantile onset0ADGRV1 CL E G H84059604352Febrile seizures, familial, 4604352C1858493OMIM1316817416602851
HP:0003593HP:0003593Infantile onset0ADGRV1 CL E G H84059604352Febrile seizures, familial, 4604352C1858493OMIM1245917416602851
HP:0003593HP:0003593Infantile onset0ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM179257102750
HP:0003593HP:0003593Infantile onset0ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM173257102750
HP:0003593HP:0003593Infantile onset0ADNP CL E G H23394615873Helsmoortel-van der aa syndrome615873C4014538OMIM126815766611386
HP:0003593HP:0003593Infantile onset0ADNP CL E G H23394615873Helsmoortel-van der aa syndrome615873C4014538OMIM125115766611386
HP:0003593HP:0003593Infantile onset0ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1582291608222
HP:0003593HP:0003593Infantile onset0ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1368291608222
HP:0003593HP:0003593Infantile onset0AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1349315604581
HP:0003593HP:0003593Infantile onset0AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1357315604581
HP:0003593HP:0003593Infantile onset0AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM123621869610345
HP:0003593HP:0003593Infantile onset0AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM122021869610345
HP:0003593HP:0003593Infantile onset0AIFM1 CL E G H9131300816Combined oxidative phosphorylation deficiency 6300816C3151753OMIM14508768300169
HP:0003593HP:0003593Infantile onset0AIFM1 CL E G H9131300816Combined oxidative phosphorylation deficiency 6300816C3151753OMIM14138768300169
HP:0003593HP:0003593Infantile onset0AIMP2 CL E G H7965618006LEUKODYSTROPHY, HYPOMYELINATING, 17618006CN248514OMIM110520609600859
HP:0003593HP:0003593Infantile onset0AIMP2 CL E G H7965618006LEUKODYSTROPHY, HYPOMYELINATING, 17618006CN248514OMIM17720609600859
HP:0003593HP:0003593Infantile onset0AKT1 CL E G H207176920Proteus syndrome176920C0085261OMIM1417391164730
HP:0003593HP:0003593Infantile onset0AKT1 CL E G H207176920Proteus syndrome176920C0085261OMIM1380391164730
HP:0003593HP:0003593Infantile onset0ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1472408610045
HP:0003593HP:0003593Infantile onset0ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1537408610045
HP:0003593HP:0003593Infantile onset0ALG11 CL E G H440138613661Congenital disorder of glycosylation type 1P613661C3150913OMIM117032456613666
HP:0003593HP:0003593Infantile onset0ALG11 CL E G H440138613661Congenital disorder of glycosylation type 1P613661C3150913OMIM117932456613666
HP:0003593HP:0003593Infantile onset0ALG13 CL E G H79868300884Epileptic encephalopathy, early infantile, 36300884C3550904OMIM171030881300776
HP:0003593HP:0003593Infantile onset0ALG13 CL E G H79868300884Epileptic encephalopathy, early infantile, 36300884C3550904OMIM163330881300776
HP:0003593HP:0003593Infantile onset0ALS2 CL E G H57679607225Infantile-onset ascending hereditary spastic paralysis607225C2931441OMIM1644443606352
HP:0003593HP:0003593Infantile onset0ALS2 CL E G H57679607225Infantile-onset ascending hereditary spastic paralysis607225C2931441OMIM1524443606352
HP:0003593HP:0003593Infantile onset0AMMECR1 CL E G H9949300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis300990C4310810OMIM1196467300195
HP:0003593HP:0003593Infantile onset0AMMECR1 CL E G H9949300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis300990C4310810OMIM1192467300195
HP:0003593HP:0003593Infantile onset0AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1216560300629
HP:0003593HP:0003593Infantile onset0AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1219560300629
HP:0003593HP:0003593Infantile onset0AP3D1 CL E G H8943617050Hermansky-Pudlak syndrome 10617050C4310746OMIM1394568607246
HP:0003593HP:0003593Infantile onset0AP3D1 CL E G H8943617050Hermansky-Pudlak syndrome 10617050C4310746OMIM1226568607246
HP:0003593HP:0003593Infantile onset0ARFGEF2 CL E G H10564608097Heterotopia, periventricular, autosomal recessive608097C1842563OMIM145915853605371
HP:0003593HP:0003593Infantile onset0ARFGEF2 CL E G H10564608097Heterotopia, periventricular, autosomal recessive608097C1842563OMIM142615853605371
HP:0003593HP:0003593Infantile onset0ARV1 CL E G H64801617020Epileptic encephalopathy, early infantile, 38617020C4310762OMIM16529561611647
HP:0003593HP:0003593Infantile onset0ARV1 CL E G H64801617020Epileptic encephalopathy, early infantile, 38617020C4310762OMIM16229561611647
HP:0003593HP:0003593Infantile onset0ASH1L CL E G H55870617796MENTAL RETARDATION, AUTOSOMAL DOMINANT 52617796C4540478OMIM117319088607999
HP:0003593HP:0003593Infantile onset0ASH1L CL E G H55870617796MENTAL RETARDATION, AUTOSOMAL DOMINANT 52617796C4540478OMIM115619088607999
HP:0003593HP:0003593Infantile onset0ASXL2 CL E G H55252617190Shashi-Pena syndrome617190C4310672OMIM117023805612991
HP:0003593HP:0003593Infantile onset0ASXL2 CL E G H55252617190Shashi-Pena syndrome617190C4310672OMIM111123805612991
HP:0003593HP:0003593Infantile onset0ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM126425567612316
HP:0003593HP:0003593Infantile onset0ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM125025567612316
HP:0003593HP:0003593Infantile onset0ATP6AP2 CL E G H10159300423Mental retardation, X-linked, syndromic, Hedera type300423C1845543OMIM128618305300556
HP:0003593HP:0003593Infantile onset0ATP6AP2 CL E G H10159300423Mental retardation, X-linked, syndromic, Hedera type300423C1845543OMIM126318305300556
HP:0003593HP:0003593Infantile onset0ATP8B1 CL E G H5205211600Progressive intrahepatic cholestasis211600C0268312OMIM14963706602397
HP:0003593HP:0003593Infantile onset0ATP8B1 CL E G H5205211600Progressive intrahepatic cholestasis211600C0268312OMIM14943706602397
HP:0003593HP:0003593Infantile onset0ATPAF2 CL E G H91647604273Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1604273C2700431OMIM120918802608918
HP:0003593HP:0003593Infantile onset0ATPAF2 CL E G H91647604273Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1604273C2700431OMIM121918802608918
HP:0003593HP:0003593Infantile onset0AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM1177890600529
HP:0003593HP:0003593Infantile onset0AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM1145890600529
HP:0003593HP:0003593Infantile onset0BCL10 CL E G H8915616098Immunodeficiency 37616098C4015195OMIM188989603517
HP:0003593HP:0003593Infantile onset0BCL10 CL E G H8915616098Immunodeficiency 37616098C4015195OMIM179989603517
HP:0003593HP:0003593Infantile onset0BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM12491020603647
HP:0003593HP:0003593Infantile onset0BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM12791020603647
HP:0003593HP:0003593Infantile onset0BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM12791020603647
HP:0003593HP:0003593Infantile onset0BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM12491020603647
HP:0003593HP:0003593Infantile onset0BLNK CL E G H29760613502Agammaglobulinemia 4, autosomal recessive613502C3150752OMIM120414211604515
HP:0003593HP:0003593Infantile onset0BLNK CL E G H29760613502Agammaglobulinemia 4, autosomal recessive613502C3150752OMIM117014211604515
HP:0003593HP:0003593Infantile onset0BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM16424415613183
HP:0003593HP:0003593Infantile onset0BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM17024415613183
HP:0003593HP:0003593Infantile onset0BRF1 CL E G H2972616202Cerebellofaciodental syndrome616202C4015495OMIM115811551604902
HP:0003593HP:0003593Infantile onset0BRF1 CL E G H2972616202Cerebellofaciodental syndrome616202C4015495OMIM114211551604902
HP:0003593HP:0003593Infantile onset0C12orf57 CL E G H113246218340Temtamy syndrome218340C1857512OMIM120829521615140
HP:0003593HP:0003593Infantile onset0C12orf57 CL E G H113246218340Temtamy syndrome218340C1857512OMIM119929521615140
HP:0003593HP:0003593Infantile onset0CA12 CL E G H771143860Hyperchlorhidrosis, isolated143860C1840437OMIM1561371603263
HP:0003593HP:0003593Infantile onset0CAD CL E G H790616457Epileptic encephalopathy, early infantile, 50616457C4225320OMIM15621424114010
HP:0003593HP:0003593Infantile onset0CAD CL E G H790616457Epileptic encephalopathy, early infantile, 50616457C4225320OMIM12181424114010
HP:0003593HP:0003593Infantile onset0CARD11 CL E G H84433615206Immunodeficiency 11615206C3554686OMIM154016393607210
HP:0003593HP:0003593Infantile onset0CARD11 CL E G H84433615206Immunodeficiency 11615206C3554686OMIM145016393607210
HP:0003593HP:0003593Infantile onset0CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11109688603198
HP:0003593HP:0003593Infantile onset0CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11099688603198
HP:0003593HP:0003593Infantile onset0CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1106429253612013
HP:0003593HP:0003593Infantile onset0CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM188129253612013
HP:0003593HP:0003593Infantile onset0CCDC115 CL E G H84317616828CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo616828C4225191OMIM16428178613734
HP:0003593HP:0003593Infantile onset0CCDC115 CL E G H84317616828CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo616828C4225191OMIM15628178613734
HP:0003593HP:0003593Infantile onset0CCT5 CL E G H22948256840Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive256840C1850395OMIM13061618610150
HP:0003593HP:0003593Infantile onset0CCT5 CL E G H22948256840Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive256840C1850395OMIM12931618610150
HP:0003593HP:0003593Infantile onset0CD247 CL E G H919610163Immunodeficiency due to defect in cd3-zeta610163C1857798OMIM11241677186780
HP:0003593HP:0003593Infantile onset0CD247 CL E G H919610163Immunodeficiency due to defect in cd3-zeta610163C1857798OMIM11121677186780
HP:0003593HP:0003593Infantile onset0CD3D CL E G H915615617Immunodeficiency 19615617C3810147OMIM11101673186790
HP:0003593HP:0003593Infantile onset0CD3D CL E G H915615617Immunodeficiency 19615617C3810147OMIM11381673186790
HP:0003593HP:0003593Infantile onset0CD3E CL E G H916615615Immunodeficiency 18615615C3810127OMIM11511674186830
HP:0003593HP:0003593Infantile onset0CD3E CL E G H916615615Immunodeficiency 18615615C3810127OMIM11261674186830
HP:0003593HP:0003593Infantile onset0CD59 CL E G H966612300CD59-mediated hemolytic anemia with or without immune-mediated polyneuropathy612300C2676767OMIM1561689107271
HP:0003593HP:0003593Infantile onset0CD59 CL E G H966612300CD59-mediated hemolytic anemia with or without immune-mediated polyneuropathy612300C2676767OMIM1461689107271
HP:0003593HP:0003593Infantile onset0CD79B CL E G H974612692Agammaglobulinemia 6, autosomal recessive612692C3150207OMIM1951699147245
HP:0003593HP:0003593Infantile onset0CD79B CL E G H974612692Agammaglobulinemia 6, autosomal recessive612692C3150207OMIM1801699147245
HP:0003593HP:0003593Infantile onset0CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1127011411300203
HP:0003593HP:0003593Infantile onset0CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1139911411300203
HP:0003593HP:0003593Infantile onset0CEP104 CL E G H9731616781Joubert syndrome 25616781C4084842OMIM138424866616690
HP:0003593HP:0003593Infantile onset0CEP104 CL E G H9731616781Joubert syndrome 25616781C4084842OMIM135424866616690
HP:0003593HP:0003593Infantile onset0CHD1 CL E G H1105617682PILAROWSKI-BJORNSSON SYNDROME617682C4540131OMIM1671915602118
HP:0003593HP:0003593Infantile onset0CHD1 CL E G H1105617682PILAROWSKI-BJORNSSON SYNDROME617682C4540131OMIM1741915602118
HP:0003593HP:0003593Infantile onset0CHD3 CL E G H1107618205SNIJDERS BLOK-CAMPEAU SYNDROME618205OMIM11411918602120
HP:0003593HP:0003593Infantile onset0CHD3 CL E G H1107618205SNIJDERS BLOK-CAMPEAU SYNDROME618205OMIM11561918602120
HP:0003593HP:0003593Infantile onset0CHRNA1 CL E G H1134608930Congenital myasthenic syndrome 1B, fast-channel608930C1837122OMIM13571955100690
HP:0003593HP:0003593Infantile onset0CHRNA1 CL E G H1134608930Congenital myasthenic syndrome 1B, fast-channel608930C1837122OMIM13161955100690
HP:0003593HP:0003593Infantile onset0CHRND CL E G H1144616321Myasthenic syndrome, congenital, 3a, slow-channel616321C4225372OMIM13731965100720
HP:0003593HP:0003593Infantile onset0CHRND CL E G H1144616321Myasthenic syndrome, congenital, 3a, slow-channel616321C4225372OMIM13311965100720
HP:0003593HP:0003593Infantile onset0CHRND CL E G H1144616322Myasthenic syndrome, congenital, 3b, fast-channel616322C4225371OMIM13731965100720
HP:0003593HP:0003593Infantile onset0CHRND CL E G H1144616322Myasthenic syndrome, congenital, 3b, fast-channel616322C4225371OMIM13311965100720
HP:0003593HP:0003593Infantile onset0CHRNE CL E G H1145616324Myasthenic syndrome, congenital, 4b, fast-channel616324C4225369OMIM16731966100725
HP:0003593HP:0003593Infantile onset0CHRNE CL E G H1145616324Myasthenic syndrome, congenital, 4b, fast-channel616324C4225369OMIM15991966100725
HP:0003593HP:0003593Infantile onset0CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM16731966100725
HP:0003593HP:0003593Infantile onset0CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM15991966100725
HP:0003593HP:0003593Infantile onset0CLIC5 CL E G H53405616042Deafness, autosomal recessive 103616042C4015050OMIM18513517607293
HP:0003593HP:0003593Infantile onset0CLIC5 CL E G H53405616042Deafness, autosomal recessive 103616042C4015050OMIM19813517607293
HP:0003593HP:0003593Infantile onset0CLPX CL E G H10845618015PROTOPORPHYRIA, ERYTHROPOIETIC, 2618015CN248523OMIM1172088615611
HP:0003593HP:0003593Infantile onset0CLPX CL E G H10845618015PROTOPORPHYRIA, ERYTHROPOIETIC, 2618015CN248523OMIM1232088615611
HP:0003593HP:0003593Infantile onset0COG2 CL E G H22796617395CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq617395C4479353OMIM11596546606974
HP:0003593HP:0003593Infantile onset0COG2 CL E G H22796617395CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq617395C4479353OMIM11476546606974
HP:0003593HP:0003593Infantile onset0COL6A1 CL E G H1291254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM113422211120220
HP:0003593HP:0003593Infantile onset0COL6A1 CL E G H1291254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM112192211120220
HP:0003593HP:0003593Infantile onset0COL6A2 CL E G H1292254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM115122212120240
HP:0003593HP:0003593Infantile onset0COL6A2 CL E G H1292254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM113702212120240
HP:0003593HP:0003593Infantile onset0COL6A3 CL E G H1293254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM122332213120250
HP:0003593HP:0003593Infantile onset0COL6A3 CL E G H1293254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM119712213120250
HP:0003593HP:0003593Infantile onset0COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM13642226603033
HP:0003593HP:0003593Infantile onset0COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM14182226603033
HP:0003593HP:0003593Infantile onset0COQ6 CL E G H51004614650Coenzyme Q10 deficiency, primary, 6614650C3553349OMIM115120233614647
HP:0003593HP:0003593Infantile onset0COQ6 CL E G H51004614650Coenzyme Q10 deficiency, primary, 6614650C3553349OMIM112420233614647
HP:0003593HP:0003593Infantile onset0CORO1A CL E G H11151615401Immunodeficiency 8615401C3809383OMIM12602252605000
HP:0003593HP:0003593Infantile onset0CORO1A CL E G H11151615401Immunodeficiency 8615401C3809383OMIM13012252605000
HP:0003593HP:0003593Infantile onset0COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM12632260602125
HP:0003593HP:0003593Infantile onset0COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM12472260602125
HP:0003593HP:0003593Infantile onset0COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM12162263603646
HP:0003593HP:0003593Infantile onset0COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM12332263603646
HP:0003593HP:0003593Infantile onset0COX4I2 CL E G H84701612714Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis612714C2675184OMIM15116232607976
HP:0003593HP:0003593Infantile onset0COX4I2 CL E G H84701612714Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis612714C2675184OMIM14616232607976
HP:0003593HP:0003593Infantile onset0CPT2 CL E G H1376600649Carnitine palmitoyltransferase II deficiency, infantile600649C1833511OMIM16182330600650
HP:0003593HP:0003593Infantile onset0CPT2 CL E G H1376600649Carnitine palmitoyltransferase II deficiency, infantile600649C1833511OMIM15052330600650
HP:0003593HP:0003593Infantile onset0CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM191826169613129
HP:0003593HP:0003593Infantile onset0CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM172926169613129
HP:0003593HP:0003593Infantile onset0CTDP1 CL E G H9150604168Congenital Cataracts, Facial Dysmorphism, and Neuropathy604168C1858726OMIM13482498604927
HP:0003593HP:0003593Infantile onset0CTDP1 CL E G H9150604168Congenital Cataracts, Facial Dysmorphism, and Neuropathy604168C1858726OMIM13232498604927
HP:0003593HP:0003593Infantile onset0CTNNB1 CL E G H1499615075Mental retardation, autosomal dominant 19615075C3554449OMIM12692514116806
HP:0003593HP:0003593Infantile onset0CTNNB1 CL E G H1499615075Mental retardation, autosomal dominant 19615075C3554449OMIM13642514116806
HP:0003593HP:0003593Infantile onset0CUX2 CL E G H23316618141EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67618141OMIM16819347610648
HP:0003593HP:0003593Infantile onset0CUX2 CL E G H23316618141EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67618141OMIM17519347610648
HP:0003593HP:0003593Infantile onset0CWF19L1 CL E G H55280616127Spinocerebellar ataxia, autosomal recessive 17616127C4015301OMIM15925613616120
HP:0003593HP:0003593Infantile onset0CXCR4 CL E G H7852193670Warts, hypogammaglobulinemia, infections, and myelokathexis193670C0472817OMIM11042561162643
HP:0003593HP:0003593Infantile onset0CXCR4 CL E G H7852193670Warts, hypogammaglobulinemia, infections, and myelokathexis193670C0472817OMIM1732561162643
HP:0003593HP:0003593Infantile onset0CYB5A CL E G H1528250790Methemoglobinemia type 4250790C2673427OMIM11482570613218
HP:0003593HP:0003593Infantile onset0CYB5A CL E G H1528250790Methemoglobinemia type 4250790C2673427OMIM11452570613218
HP:0003593HP:0003593Infantile onset0CYP2R1 CL E G H120227600081Vitamin d hydroxylation-deficient rickets, type 1b600081C1838657OMIM17420580608713
HP:0003593HP:0003593Infantile onset0CYP2R1 CL E G H120227600081Vitamin d hydroxylation-deficient rickets, type 1b600081C1838657OMIM16320580608713
HP:0003593HP:0003593Infantile onset0DAG1 CL E G H1605616538Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9616538C4225291OMIM14672666128239
HP:0003593HP:0003593Infantile onset0DAG1 CL E G H1605616538Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9616538C4225291OMIM13762666128239
HP:0003593HP:0003593Infantile onset0DARS CL E G H1615615281Hypomyelination with brainstem and spinal cord involvement and leg spasticity615281C3809008OMIM12678603084
HP:0003593HP:0003593Infantile onset0DCDC2 CL E G H51473617394Sclerosing cholangitis, neonatal617394C4479344OMIM117218141605755
HP:0003593HP:0003593Infantile onset0DCDC2 CL E G H51473617394Sclerosing cholangitis, neonatal617394C4479344OMIM118718141605755
HP:0003593HP:0003593Infantile onset0DCX CL E G H1641300067Lissencephaly, X-linked300067C1848199OMIM13682714300121
HP:0003593HP:0003593Infantile onset0DCX CL E G H1641300067Lissencephaly, X-linked300067C1848199OMIM13572714300121
HP:0003593HP:0003593Infantile onset0DDC CL E G H1644608643Deficiency of aromatic-L-amino-acid decarboxylase608643C1291564OMIM13002719107930
HP:0003593HP:0003593Infantile onset0DDC CL E G H1644608643Deficiency of aromatic-L-amino-acid decarboxylase608643C1291564OMIM12202719107930
HP:0003593HP:0003593Infantile onset0DDOST CL E G H1650614507Congenital disorder of glycosylation type Ir614507C3281084OMIM11792728602202
HP:0003593HP:0003593Infantile onset0DDOST CL E G H1650614507Congenital disorder of glycosylation type Ir614507C3281084OMIM11542728602202
HP:0003593HP:0003593Infantile onset0DDX3X CL E G H1654300958Mental retardation, X-linked 102300958C4085582OMIM14962745300160
HP:0003593HP:0003593Infantile onset0DDX3X CL E G H1654300958Mental retardation, X-linked 102300958C4085582OMIM14612745300160
HP:0003593HP:0003593Infantile onset0DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM131114677602635
HP:0003593HP:0003593Infantile onset0DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM117914677602635
HP:0003593HP:0003593Infantile onset0DHX30 CL E G H22907617804NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE617804C4540496OMIM15816716616423
HP:0003593HP:0003593Infantile onset0DHX30 CL E G H22907617804NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE617804C4540496OMIM14916716616423
HP:0003593HP:0003593Infantile onset0DLAT CL E G H1737245348Pyruvate dehydrogenase E2 deficiency245348C1855565OMIM11992896608770
HP:0003593HP:0003593Infantile onset0DLAT CL E G H1737245348Pyruvate dehydrogenase E2 deficiency245348C1855565OMIM11682896608770
HP:0003593HP:0003593Infantile onset0DNAAF4 CL E G H161582615482Primary ciliary dyskinesia 25615482C3809641OMIM119421493608706
HP:0003593HP:0003593Infantile onset0DNAAF4 CL E G H161582615482Primary ciliary dyskinesia 25615482C3809641OMIM118021493608706
HP:0003593HP:0003593Infantile onset0DNAAF5 CL E G H54919614874Ciliary dyskinesia, primary, 18614874C3543825OMIM141626013614864
HP:0003593HP:0003593Infantile onset0DNAAF5 CL E G H54919614874Ciliary dyskinesia, primary, 18614874C3543825OMIM136526013614864
HP:0003593HP:0003593Infantile onset0DOCK7 CL E G H85440615859Epileptic encephalopathy, early infantile, 23615859C4014492OMIM183819190615730
HP:0003593HP:0003593Infantile onset0DOCK7 CL E G H85440615859Epileptic encephalopathy, early infantile, 23615859C4014492OMIM1101019190615730
HP:0003593HP:0003593Infantile onset0DOCK8 CL E G H81704243700Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive243700C1968689OMIM1200319191611432
HP:0003593HP:0003593Infantile onset0DOCK8 CL E G H81704243700Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive243700C1968689OMIM1171219191611432
HP:0003593HP:0003593Infantile onset0DPM1 CL E G H8813608799Congenital disorder of glycosylation type 1E608799C1837396OMIM11883005603503
HP:0003593HP:0003593Infantile onset0DPM1 CL E G H8813608799Congenital disorder of glycosylation type 1E608799C1837396OMIM11563005603503
HP:0003593HP:0003593Infantile onset0EARS2 CL E G H124454614924Combined oxidative phosphorylation deficiency 12614924C3554079OMIM123529419612799
HP:0003593HP:0003593Infantile onset0EARS2 CL E G H124454614924Combined oxidative phosphorylation deficiency 12614924C3554079OMIM120729419612799
HP:0003593HP:0003593Infantile onset0EBF3 CL E G H253738617330Hypotonia, ataxia, and delayed development syndrome617330C4310618OMIM119419087607407
HP:0003593HP:0003593Infantile onset0EBF3 CL E G H253738617330Hypotonia, ataxia, and delayed development syndrome617330C4310618OMIM119819087607407
HP:0003593HP:0003593Infantile onset0EDC3 CL E G H80153616460Mental retardation, autosomal recessive 50616460C4225319OMIM14726114609842
HP:0003593HP:0003593Infantile onset0EDC3 CL E G H80153616460Mental retardation, autosomal recessive 50616460C4225319OMIM14626114609842
HP:0003593HP:0003593Infantile onset0EEF1A2 CL E G H1917616409Epileptic encephalopathy, early infantile, 33616409C4225337OMIM14173192602959
HP:0003593HP:0003593Infantile onset0EEF1A2 CL E G H1917616409Epileptic encephalopathy, early infantile, 33616409C4225337OMIM13823192602959
HP:0003593HP:0003593Infantile onset0EEF1A2 CL E G H1917616393Mental retardation, autosomal dominant 38616393C4225343OMIM14173192602959
HP:0003593HP:0003593Infantile onset0EEF1A2 CL E G H1917616393Mental retardation, autosomal dominant 38616393C4225343OMIM13823192602959
HP:0003593HP:0003593Infantile onset0EGR2 CL E G H1959145900Dejerine-Sottas disease145900C0011195OMIM12863239129010
HP:0003593HP:0003593Infantile onset0EGR2 CL E G H1959145900Dejerine-Sottas disease145900C0011195OMIM12453239129010
HP:0003593HP:0003593Infantile onset0EIF2AK3 CL E G H9451226980Wolcott-Rallison dysplasia226980C0432217OMIM12963255604032
HP:0003593HP:0003593Infantile onset0EIF2AK3 CL E G H9451226980Wolcott-Rallison dysplasia226980C0432217OMIM11783255604032
HP:0003593HP:0003593Infantile onset0ELANE CL E G H1991202700Severe congenital neutropenia autosomal dominant202700C1859966OMIM13893309130130
HP:0003593HP:0003593Infantile onset0ELANE CL E G H1991202700Severe congenital neutropenia autosomal dominant202700C1859966OMIM13423309130130
HP:0003593HP:0003593Infantile onset0EPO CL E G H2056617911DIAMOND-BLACKFAN ANEMIA-LIKE617911CN873436OMIM1463415133170
HP:0003593HP:0003593Infantile onset0EPO CL E G H2056617911DIAMOND-BLACKFAN ANEMIA-LIKE617911CN873436OMIM1453415133170
HP:0003593HP:0003593Infantile onset0ERCC4 CL E G H2072615272Fanconi anemia, complementation group Q615272C3808988OMIM15383436133520
HP:0003593HP:0003593Infantile onset0ERCC4 CL E G H2072615272Fanconi anemia, complementation group Q615272C3808988OMIM14693436133520
HP:0003593HP:0003593Infantile onset0ERCC6 CL E G H2074600630UV-sensitive syndrome600630C1833561OMIM18253438609413
HP:0003593HP:0003593Infantile onset0ERCC6 CL E G H2074600630UV-sensitive syndrome600630C1833561OMIM19463438609413
HP:0003593HP:0003593Infantile onset0ERCC8 CL E G H1161614621UV-sensitive syndrome 2614621C3553298OMIM13433439609412
HP:0003593HP:0003593Infantile onset0ERCC8 CL E G H1161614621UV-sensitive syndrome 2614621C3553298OMIM13103439609412
HP:0003593HP:0003593Infantile onset0EXT2 CL E G H2132616682Seizures, scoliosis, and macrocephaly syndrome616682C4225248OMIM14663513608210
HP:0003593HP:0003593Infantile onset0EXT2 CL E G H2132616682Seizures, scoliosis, and macrocephaly syndrome616682C4225248OMIM13793513608210
HP:0003593HP:0003593Infantile onset0FAM126A CL E G H84668610532Hypomyelination and Congenital Cataract610532C1864663OMIM125124587610531
HP:0003593HP:0003593Infantile onset0FAM126A CL E G H84668610532Hypomyelination and Congenital Cataract610532C1864663OMIM122524587610531
HP:0003593HP:0003593Infantile onset0FERMT3 CL E G H83706612840Leukocyte adhesion deficiency, type III612840C2748536OMIM128623151607901
HP:0003593HP:0003593Infantile onset0FERMT3 CL E G H83706612840Leukocyte adhesion deficiency, type III612840C2748536OMIM122823151607901
HP:0003593HP:0003593Infantile onset0FGD4 CL E G H121512609311Charcot-Marie-Tooth disease, type 4H609311C1836336OMIM159919125611104
HP:0003593HP:0003593Infantile onset0FGD4 CL E G H121512609311Charcot-Marie-Tooth disease, type 4H609311C1836336OMIM153919125611104
HP:0003593HP:0003593Infantile onset0FKTN CL E G H2218613152Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B4613152C2751052OMIM16793622607440
HP:0003593HP:0003593Infantile onset0FKTN CL E G H2218613152Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B4613152C2751052OMIM15993622607440
HP:0003593HP:0003593Infantile onset0FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM16793622607440
HP:0003593HP:0003593Infantile onset0FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM15993622607440
HP:0003593HP:0003593Infantile onset0FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM16793622607440
HP:0003593HP:0003593Infantile onset0FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM15993622607440
HP:0003593HP:0003593Infantile onset0FLNA CL E G H2316300048Intestinal pseudoobstruction neuronal chronic idiopathic X-linked300048C2746068OMIM118933754300017
HP:0003593HP:0003593Infantile onset0FLNA CL E G H2316300048Intestinal pseudoobstruction neuronal chronic idiopathic X-linked300048C2746068OMIM121303754300017
HP:0003593HP:0003593Infantile onset0FMN2 CL E G H56776616193Mental retardation, autosomal recessive 47616193C4015444OMIM121014074606373
HP:0003593HP:0003593Infantile onset0FMN2 CL E G H56776616193Mental retardation, autosomal recessive 47616193C4015444OMIM120214074606373
HP:0003593HP:0003593Infantile onset0FOXRED1 CL E G H55572618241MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19618241OMIM123126927613622
HP:0003593HP:0003593Infantile onset0FOXRED1 CL E G H55572618241MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19618241OMIM121026927613622
HP:0003593HP:0003593Infantile onset0FRMD7 CL E G H90167310700Infantile nystagmus, X-linked310700C1839580OMIM13418079300628
HP:0003593HP:0003593Infantile onset0FRMD7 CL E G H90167310700Infantile nystagmus, X-linked310700C1839580OMIM13958079300628
HP:0003593HP:0003593Infantile onset0FRMPD4 CL E G H9758300983Mental retardation, X-linked 104300983C4310817OMIM131829007300838
HP:0003593HP:0003593Infantile onset0FRMPD4 CL E G H9758300983Mental retardation, X-linked 104300983C4310817OMIM133629007300838
HP:0003593HP:0003593Infantile onset0FZD4 CL E G H8322133780Exudative vitreoretinopathy 1133780C1851402OMIM12664042604579
HP:0003593HP:0003593Infantile onset0FZD4 CL E G H8322133780Exudative vitreoretinopathy 1133780C1851402OMIM13214042604579
HP:0003593HP:0003593Infantile onset0GABRB1 CL E G H2560617153Epileptic encephalopathy, early infantile, 45617153C4310691OMIM1964081137190
HP:0003593HP:0003593Infantile onset0GABRB1 CL E G H2560617153Epileptic encephalopathy, early infantile, 45617153C4310691OMIM1494081137190
HP:0003593HP:0003593Infantile onset0GABRB3 CL E G H2562617113Epileptic encephalopathy, early infantile, 43617113C4310712OMIM16914083137192
HP:0003593HP:0003593Infantile onset0GABRB3 CL E G H2562617113Epileptic encephalopathy, early infantile, 43617113C4310712OMIM16454083137192
HP:0003593HP:0003593Infantile onset0GAD1 CL E G H2571603513Cerebral palsy, spastic quadriplegic, 1603513C2751938OMIM11624092605363
HP:0003593HP:0003593Infantile onset0GAD1 CL E G H2571603513Cerebral palsy, spastic quadriplegic, 1603513C2751938OMIM11414092605363
HP:0003593HP:0003593Infantile onset0GATA1 CL E G H2623300835Anemia without thromobocytopenia, X-linked300835C3151785OMIM12834170305371
HP:0003593HP:0003593Infantile onset0GATA1 CL E G H2623300835Anemia without thromobocytopenia, X-linked300835C3151785OMIM13044170305371
HP:0003593HP:0003593Infantile onset0GATA1 CL E G H2623300367GATA-1-related thrombocytopenia with dyserythropoiesis300367C1845837OMIM12834170305371
HP:0003593HP:0003593Infantile onset0GATA1 CL E G H2623300367GATA-1-related thrombocytopenia with dyserythropoiesis300367C1845837OMIM13044170305371
HP:0003593HP:0003593Infantile onset0GATAD2B CL E G H57459615074Mental retardation, autosomal dominant 18615074C3554448OMIM121230778614998
HP:0003593HP:0003593Infantile onset0GATAD2B CL E G H57459615074Mental retardation, autosomal dominant 18615074C3554448OMIM115930778614998
HP:0003593HP:0003593Infantile onset0GATM CL E G H2628612718Arginine:glycine amidinotransferase deficiency612718C2675179OMIM13224175602360
HP:0003593HP:0003593Infantile onset0GATM CL E G H2628612718Arginine:glycine amidinotransferase deficiency612718C2675179OMIM12804175602360
HP:0003593HP:0003593Infantile onset0GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM13154193600225
HP:0003593HP:0003593Infantile onset0GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM12574193600225
HP:0003593HP:0003593Infantile onset0GDAP1 CL E G H54332607831Charcot-Marie-Tooth disease type 2K607831C1842983OMIM144415968606598
HP:0003593HP:0003593Infantile onset0GDAP1 CL E G H54332607831Charcot-Marie-Tooth disease type 2K607831C1842983OMIM142315968606598
HP:0003593HP:0003593Infantile onset0GDAP1 CL E G H54332214400Charcot-Marie-Tooth disease, type 4A214400C1859198OMIM144415968606598
HP:0003593HP:0003593Infantile onset0GDAP1 CL E G H54332214400Charcot-Marie-Tooth disease, type 4A214400C1859198OMIM142315968606598
HP:0003593HP:0003593Infantile onset0GEMIN4 CL E G H50628617913NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES617913CN889218OMIM114915717606969
HP:0003593HP:0003593Infantile onset0GEMIN4 CL E G H50628617913NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES617913CN889218OMIM114215717606969
HP:0003593HP:0003593Infantile onset0GFAP CL E G H2670203450Alexander's disease203450C0270726OMIM13164235137780
HP:0003593HP:0003593Infantile onset0GFAP CL E G H2670203450Alexander's disease203450C0270726OMIM12844235137780
HP:0003593HP:0003593Infantile onset0GFI1B CL E G H8328187900Platelet-type bleeding disorder 17187900C1861194OMIM1944238604383
HP:0003593HP:0003593Infantile onset0GFI1B CL E G H8328187900Platelet-type bleeding disorder 17187900C1861194OMIM1874238604383
HP:0003593HP:0003593Infantile onset0GFPT1 CL E G H2673608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM14064241138292
HP:0003593HP:0003593Infantile onset0GFPT1 CL E G H2673608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM13744241138292
HP:0003593HP:0003593Infantile onset0GJA1 CL E G H2697104100Alopecia congenita keratosis palmoplantaris104100C1863093OMIM11914274121014
HP:0003593HP:0003593Infantile onset0GJA1 CL E G H2697104100Alopecia congenita keratosis palmoplantaris104100C1863093OMIM11694274121014
HP:0003593HP:0003593Infantile onset0GJB2 CL E G H2706602540Hystrix-like ichthyosis with deafness602540C1865234OMIM14604284121011
HP:0003593HP:0003593Infantile onset0GJB2 CL E G H2706602540Hystrix-like ichthyosis with deafness602540C1865234OMIM14824284121011
HP:0003593HP:0003593Infantile onset0GJB3 CL E G H2707133200Erythrokeratodermia variabilis133200C0265961OMIM11564285603324
HP:0003593HP:0003593Infantile onset0GJB3 CL E G H2707133200Erythrokeratodermia variabilis133200C0265961OMIM11454285603324
HP:0003593HP:0003593Infantile onset0GJC2 CL E G H57165608804Leukodystrophy, hypomyelinating, 2608804C1837355OMIM122117494608803
HP:0003593HP:0003593Infantile onset0GJC2 CL E G H57165608804Leukodystrophy, hypomyelinating, 2608804C1837355OMIM117417494608803
HP:0003593HP:0003593Infantile onset0GLRA1 CL E G H2741149400Hyperekplexia hereditary149400C1835614OMIM13424326138491
HP:0003593HP:0003593Infantile onset0GLRA1 CL E G H2741149400Hyperekplexia hereditary149400C1835614OMIM12994326138491
HP:0003593HP:0003593Infantile onset0GLRB CL E G H2743614619Hyperekplexia 2614619C3553291OMIM11574329138492
HP:0003593HP:0003593Infantile onset0GLRB CL E G H2743614619Hyperekplexia 2614619C3553291OMIM12394329138492
HP:0003593HP:0003593Infantile onset0GNAS CL E G H2778166350Progressive osseous heteroplasia166350C0334041OMIM13714392139320
HP:0003593HP:0003593Infantile onset0GNAS CL E G H2778166350Progressive osseous heteroplasia166350C0334041OMIM13334392139320
HP:0003593HP:0003593Infantile onset0GNB1 CL E G H2782616973Mental retardation, autosomal dominant 42616973C4310774OMIM12504396139380
HP:0003593HP:0003593Infantile onset0GNB1 CL E G H2782616973Mental retardation, autosomal dominant 42616973C4310774OMIM12174396139380
HP:0003593HP:0003593Infantile onset0GP6 CL E G H51206614201Platelet-type bleeding disorder 11614201C3280120OMIM110514388605546
HP:0003593HP:0003593Infantile onset0GP6 CL E G H51206614201Platelet-type bleeding disorder 11614201C3280120OMIM110814388605546
HP:0003593HP:0003593Infantile onset0GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM12274446603048
HP:0003593HP:0003593Infantile onset0GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM1954446603048
HP:0003593HP:0003593Infantile onset0GPD1 CL E G H2819614480Hypertriglyceridemia, transient infantile614480C3280953OMIM1524455138420
HP:0003593HP:0003593Infantile onset0GPD1 CL E G H2819614480Hypertriglyceridemia, transient infantile614480C3280953OMIM1694455138420
HP:0003593HP:0003593Infantile onset0GPHN CL E G H10243149400Hyperekplexia hereditary149400C1835614OMIM137415465603930
HP:0003593HP:0003593Infantile onset0GPHN CL E G H10243149400Hyperekplexia hereditary149400C1835614OMIM127615465603930
HP:0003593HP:0003593Infantile onset0GRID2 CL E G H2895616204Spinocerebellar ataxia, autosomal recessive 18616204C4015505OMIM11514576602368
HP:0003593HP:0003593Infantile onset0GRID2 CL E G H2895616204Spinocerebellar ataxia, autosomal recessive 18616204C4015505OMIM11444576602368
HP:0003593HP:0003593Infantile onset0GRIK2 CL E G H2898611092Mental retardation, autosomal recessive 6611092C1970198OMIM11034580138244
HP:0003593HP:0003593Infantile onset0GRIK2 CL E G H2898611092Mental retardation, autosomal recessive 6611092C1970198OMIM1974580138244
HP:0003593HP:0003593Infantile onset0GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM15874584138249
HP:0003593HP:0003593Infantile onset0GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM15314584138249
HP:0003593HP:0003593Infantile onset0GRIN2D CL E G H2906617162Epileptic encephalopathy, early infantile, 46617162C4310687OMIM13164588602717
HP:0003593HP:0003593Infantile onset0GRIN2D CL E G H2906617162Epileptic encephalopathy, early infantile, 46617162C4310687OMIM11284588602717
HP:0003593HP:0003593Infantile onset0GRM1 CL E G H2911614831Spinocerebellar ataxia, autosomal recessive 13614831C3553816OMIM11864593604473
HP:0003593HP:0003593Infantile onset0GRM1 CL E G H2911614831Spinocerebellar ataxia, autosomal recessive 13614831C3553816OMIM11934593604473
HP:0003593HP:0003593Infantile onset0GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM1504670607434
HP:0003593HP:0003593Infantile onset0GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM1344670607434
HP:0003593HP:0003593Infantile onset0HAX1 CL E G H10456610738Severe congenital neutropenia 3, autosomal recessive610738CN032247OMIM119716915605998
HP:0003593HP:0003593Infantile onset0HAX1 CL E G H10456610738Severe congenital neutropenia 3, autosomal recessive610738CN032247OMIM116616915605998
HP:0003593HP:0003593Infantile onset0HCFC1 CL E G H3054309541Mental retardation 3, X-linked309541C0796208OMIM16344839300019
HP:0003593HP:0003593Infantile onset0HCFC1 CL E G H3054309541Mental retardation 3, X-linked309541C0796208OMIM16014839300019
HP:0003593HP:0003593Infantile onset0HEPACAM CL E G H220296604004Megalencephalic leukoencephalopathy with subcortical cysts 1604004C1858854OMIM123126361611642
HP:0003593HP:0003593Infantile onset0HEPACAM CL E G H220296604004Megalencephalic leukoencephalopathy with subcortical cysts 1604004C1858854OMIM120626361611642
HP:0003593HP:0003593Infantile onset0HERC2 CL E G H8924615516Mental retardation, autosomal recessive 38615516C3809753OMIM16024868605837
HP:0003593HP:0003593Infantile onset0HERC2 CL E G H8924615516Mental retardation, autosomal recessive 38615516C3809753OMIM16224868605837
HP:0003593HP:0003593Infantile onset0HEXA CL E G H3073272800Tay-Sachs disease272800C0039373OMIM16174878606869
HP:0003593HP:0003593Infantile onset0HEXA CL E G H3073272800Tay-Sachs disease272800C0039373OMIM15134878606869
HP:0003593HP:0003593Infantile onset0HIBCH CL E G H26275250620Beta-hydroxyisobutyryl-CoA deacylase deficiency250620C0342738OMIM11534908610690
HP:0003593HP:0003593Infantile onset0HIBCH CL E G H26275250620Beta-hydroxyisobutyryl-CoA deacylase deficiency250620C0342738OMIM11374908610690
HP:0003593HP:0003593Infantile onset0HIKESHI CL E G H51501616881Leukodystrophy, hypomyelinating, 13616881C4225170OMIM14326938614908
HP:0003593HP:0003593Infantile onset0HIKESHI CL E G H51501616881Leukodystrophy, hypomyelinating, 13616881C4225170OMIM13526938614908
HP:0003593HP:0003593Infantile onset0HIVEP2 CL E G H3097616977Mental retardation, autosomal dominant 43616977C4310771OMIM12234921143054
HP:0003593HP:0003593Infantile onset0HIVEP2 CL E G H3097616977Mental retardation, autosomal dominant 43616977C4310771OMIM12034921143054
HP:0003593HP:0003593Infantile onset0HNF1A CL E G H6927600496Maturity-onset diabetes of the young, type 3600496C1838100OMIM152911621142410
HP:0003593HP:0003593Infantile onset0HNF1A CL E G H6927600496Maturity-onset diabetes of the young, type 3600496C1838100OMIM145211621142410
HP:0003593HP:0003593Infantile onset0HNMT CL E G H3176616739Mental retardation, autosomal recessive 51616739C4225220OMIM1405028605238
HP:0003593HP:0003593Infantile onset0HNMT CL E G H3176616739Mental retardation, autosomal recessive 51616739C4225220OMIM1375028605238
HP:0003593HP:0003593Infantile onset0HNRNPU CL E G H3192617391Epileptic encephalopathy, early infantile, 54617391C4479319OMIM15715048602869
HP:0003593HP:0003593Infantile onset0HNRNPU CL E G H3192617391Epileptic encephalopathy, early infantile, 54617391C4479319OMIM14985048602869
HP:0003593HP:0003593Infantile onset0HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12024800300256
HP:0003593HP:0003593Infantile onset0HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12134800300256
HP:0003593HP:0003593Infantile onset0HSD17B4 CL E G H3295261515Bifunctional peroxisomal enzyme deficiency261515C0342870OMIM15605213601860
HP:0003593HP:0003593Infantile onset0HSD17B4 CL E G H3295261515Bifunctional peroxisomal enzyme deficiency261515C0342870OMIM16395213601860
HP:0003593HP:0003593Infantile onset0HYDIN CL E G H54768608647Ciliary dyskinesia, primary, 5608647C1837615OMIM112019368610812
HP:0003593HP:0003593Infantile onset0HYDIN CL E G H54768608647Ciliary dyskinesia, primary, 5608647C1837615OMIM111219368610812
HP:0003593HP:0003593Infantile onset0IFT140 CL E G H9742266920Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia266920C1849437OMIM1109829077614620
HP:0003593HP:0003593Infantile onset0IFT140 CL E G H9742266920Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia266920C1849437OMIM185129077614620
HP:0003593HP:0003593Infantile onset0IGHM CL E G H3507601495Agammaglobulinemia, non-Bruton type601495C1832241OMIM1825541147020
HP:0003593HP:0003593Infantile onset0IGHM CL E G H3507601495Agammaglobulinemia, non-Bruton type601495C1832241OMIM1815541147020
HP:0003593HP:0003593Infantile onset0IGLL1 CL E G H3543613500Agammaglobulinemia 2, autosomal recessive613500C3150750OMIM12345870146770
HP:0003593HP:0003593Infantile onset0IGLL1 CL E G H3543613500Agammaglobulinemia 2, autosomal recessive613500C3150750OMIM12655870146770
HP:0003593HP:0003593Infantile onset0IKBKB CL E G H3551615592Immunodeficiency 15615592C3810043OMIM12165960603258
HP:0003593HP:0003593Infantile onset0IKBKB CL E G H3551615592Immunodeficiency 15615592C3810043OMIM12615960603258
HP:0003593HP:0003593Infantile onset0IL21 CL E G H59067615767Common variable immunodeficiency 11615767C4014258OMIM1636005605384
HP:0003593HP:0003593Infantile onset0IL21 CL E G H59067615767Common variable immunodeficiency 11615767C4014258OMIM1486005605384
HP:0003593HP:0003593Infantile onset0ILDR1 CL E G H286676609646Deafness, autosomal recessive 42609646C1864818OMIM116328741609739
HP:0003593HP:0003593Infantile onset0ILDR1 CL E G H286676609646Deafness, autosomal recessive 42609646C1864818OMIM114928741609739
HP:0003593HP:0003593Infantile onset0IMPDH1 CL E G H3614180105Retinitis pigmentosa 10180105C1867299OMIM13456052146690
HP:0003593HP:0003593Infantile onset0IMPDH1 CL E G H3614180105Retinitis pigmentosa 10180105C1867299OMIM12836052146690
HP:0003593HP:0003593Infantile onset0ISCA1 CL E G H81689617613MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5617613C4539919OMIM13728660611006
HP:0003593HP:0003593Infantile onset0ISCA1 CL E G H81689617613MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5617613C4539919OMIM13528660611006
HP:0003593HP:0003593Infantile onset0ITGA7 CL E G H3679613204Muscular dystrophy, congenital, due to integrin alpha-7 deficiency613204C2750786OMIM15236143600536
HP:0003593HP:0003593Infantile onset0ITGA7 CL E G H3679613204Muscular dystrophy, congenital, due to integrin alpha-7 deficiency613204C2750786OMIM16286143600536
HP:0003593HP:0003593Infantile onset0ITPA CL E G H3704616647Epileptic encephalopathy, early infantile, 35616647C4225256OMIM12036176147520
HP:0003593HP:0003593Infantile onset0ITPA CL E G H3704616647Epileptic encephalopathy, early infantile, 35616647C4225256OMIM11826176147520
HP:0003593HP:0003593Infantile onset0JAG1 CL E G H182118450Alagille syndrome 1118450C1956125OMIM110686188601920
HP:0003593HP:0003593Infantile onset0JAG1 CL E G H182118450Alagille syndrome 1118450C1956125OMIM19066188601920
HP:0003593HP:0003593Infantile onset0JPH1 CL E G H56704607831Charcot-Marie-Tooth disease type 2K607831C1842983OMIM13814201605266
HP:0003593HP:0003593Infantile onset0JPH1 CL E G H56704607831Charcot-Marie-Tooth disease type 2K607831C1842983OMIM13714201605266
HP:0003593HP:0003593Infantile onset0KATNB1 CL E G H10300616212Lissencephaly 6, with microcephaly616212C4015525OMIM11696217602703
HP:0003593HP:0003593Infantile onset0KATNB1 CL E G H10300616212Lissencephaly 6, with microcephaly616212C4015525OMIM11536217602703
HP:0003593HP:0003593Infantile onset0KCNA2 CL E G H3737616366Epileptic encephalopathy, early infantile, 32616366C4225350OMIM12796220176262
HP:0003593HP:0003593Infantile onset0KCNA2 CL E G H3737616366Epileptic encephalopathy, early infantile, 32616366C4225350OMIM12486220176262
HP:0003593HP:0003593Infantile onset0KCNB1 CL E G H3745616056Epileptic encephalopathy, early infantile, 26616056C4015119OMIM14526231600397
HP:0003593HP:0003593Infantile onset0KCNB1 CL E G H3745616056Epileptic encephalopathy, early infantile, 26616056C4015119OMIM14016231600397
HP:0003593HP:0003593Infantile onset0KCNH1 CL E G H3756611816Temple-Baraitser syndrome611816C2678486OMIM12776250603305
HP:0003593HP:0003593Infantile onset0KCNH1 CL E G H3756611816Temple-Baraitser syndrome611816C2678486OMIM11776250603305
HP:0003593HP:0003593Infantile onset0KCNJ10 CL E G H3766612780SeSAME syndrome612780C2748572OMIM13196256602208
HP:0003593HP:0003593Infantile onset0KCNJ10 CL E G H3766612780SeSAME syndrome612780C2748572OMIM12896256602208
HP:0003593HP:0003593Infantile onset0KCNMA1 CL E G H3778617643CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES617643C4539985OMIM17206284600150
HP:0003593HP:0003593Infantile onset0KCNMA1 CL E G H3778617643CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES617643C4539985OMIM16326284600150
HP:0003593HP:0003593Infantile onset0KCNQ2 CL E G H3785613720Early infantile epileptic encephalopathy 7613720C3150986OMIM113806296602235
HP:0003593HP:0003593Infantile onset0KCNQ2 CL E G H3785613720Early infantile epileptic encephalopathy 7613720C3150986OMIM115346296602235
HP:0003593HP:0003593Infantile onset0KCNT2 CL E G H343450617771EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 57617771C4540411OMIM15618866610044
HP:0003593HP:0003593Infantile onset0KCNT2 CL E G H343450617771EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 57617771C4540411OMIM15318866610044
HP:0003593HP:0003593Infantile onset0KDM5B CL E G H10765618109MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65618109CN253823OMIM110718039605393
HP:0003593HP:0003593Infantile onset0KDM5B CL E G H10765618109MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65618109CN253823OMIM110018039605393
HP:0003593HP:0003593Infantile onset0KIDINS220 CL E G H57498617296Spastic paraplegia, intellectual disability, nystagmus, and obesity617296C4284592OMIM114629508615759
HP:0003593HP:0003593Infantile onset0KIDINS220 CL E G H57498617296Spastic paraplegia, intellectual disability, nystagmus, and obesity617296C4284592OMIM122229508615759
HP:0003593HP:0003593Infantile onset0KIF1A CL E G H547201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM11735888601255
HP:0003593HP:0003593Infantile onset0KIF1A CL E G H547201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM11441888601255
HP:0003593HP:0003593Infantile onset0KITLG CL E G H4254145250Familial progressive hyperpigmentation with or without hypopigmentation145250C1840392OMIM1736343184745
HP:0003593HP:0003593Infantile onset0KITLG CL E G H4254145250Familial progressive hyperpigmentation with or without hypopigmentation145250C1840392OMIM1666343184745
HP:0003593HP:0003593Infantile onset0KLHL7 CL E G H55975617055Cold-induced sweating syndrome 3617055C4310742OMIM121115646611119
HP:0003593HP:0003593Infantile onset0KLHL7 CL E G H55975617055Cold-induced sweating syndrome 3617055C4310742OMIM117615646611119
HP:0003593HP:0003593Infantile onset0KRT81 CL E G H3887158000Beaded hair158000C0546966OMIM1406458602153
HP:0003593HP:0003593Infantile onset0KRT83 CL E G H3889158000Beaded hair158000C0546966OMIM11236460602765
HP:0003593HP:0003593Infantile onset0KRT83 CL E G H3889158000Beaded hair158000C0546966OMIM11246460602765
HP:0003593HP:0003593Infantile onset0KRT86 CL E G H3892158000Beaded hair158000C0546966OMIM11076463601928
HP:0003593HP:0003593Infantile onset0L2HGDH CL E G H79944236792L-2-hydroxyglutaric aciduria236792C1855995OMIM116020499609584
HP:0003593HP:0003593Infantile onset0L2HGDH CL E G H79944236792L-2-hydroxyglutaric aciduria236792C1855995OMIM112420499609584
HP:0003593HP:0003593Infantile onset0LAMA3 CL E G H3909245660Laryngoonychocutaneous syndrome245660C1328355OMIM18556483600805
HP:0003593HP:0003593Infantile onset0LAMA3 CL E G H3909245660Laryngoonychocutaneous syndrome245660C1328355OMIM18156483600805
HP:0003593HP:0003593Infantile onset0LARGE1 CL E G H9215608840Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6608840C1837229OMIM15976511603590
HP:0003593HP:0003593Infantile onset0LARGE1 CL E G H9215608840Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6608840C1837229OMIM15166511603590
HP:0003593HP:0003593Infantile onset0LCK CL E G H3932615758Immunodeficiency 22615758C4014233OMIM11036524153390
HP:0003593HP:0003593Infantile onset0LCK CL E G H3932615758Immunodeficiency 22615758C4014233OMIM11266524153390
HP:0003593HP:0003593Infantile onset0LIPT1 CL E G H51601616299Lipoyltransferase 1 deficiency616299C4225379OMIM19029569610284
HP:0003593HP:0003593Infantile onset0LIPT1 CL E G H51601616299Lipoyltransferase 1 deficiency616299C4225379OMIM17329569610284
HP:0003593HP:0003593Infantile onset0LMAN2L CL E G H81562616887Mental retardation, autosomal recessive 52616887C4225168OMIM16819263609552
HP:0003593HP:0003593Infantile onset0LMAN2L CL E G H81562616887Mental retardation, autosomal recessive 52616887C4225168OMIM16519263609552
HP:0003593HP:0003593Infantile onset0LMBRD1 CL E G H55788277380METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE277380C1848578OMIM119323038612625
HP:0003593HP:0003593Infantile onset0LMBRD1 CL E G H55788277380METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE277380C1848578OMIM115723038612625
HP:0003593HP:0003593Infantile onset0LRP5 CL E G H4041133780Exudative vitreoretinopathy 1133780C1851402OMIM111276697603506
HP:0003593HP:0003593Infantile onset0LRP5 CL E G H4041133780Exudative vitreoretinopathy 1133780C1851402OMIM18616697603506
HP:0003593HP:0003593Infantile onset0LRP5 CL E G H4041601813Exudative vitreoretinopathy 4601813C1866176OMIM18616697603506
HP:0003593HP:0003593Infantile onset0LRP5 CL E G H4041601813Exudative vitreoretinopathy 4601813C1866176OMIM111276697603506
HP:0003593HP:0003593Infantile onset0LRPPRC CL E G H10128220111Leigh syndrome, French Canadian type220111C1857355OMIM189115714607544
HP:0003593HP:0003593Infantile onset0LRPPRC CL E G H10128220111Leigh syndrome, French Canadian type220111C1857355OMIM181115714607544
HP:0003593HP:0003593Infantile onset0MAGEL2 CL E G H54551615547Schaaf-yang syndrome615547C3809877OMIM15576814605283
HP:0003593HP:0003593Infantile onset0MAGEL2 CL E G H54551615547Schaaf-yang syndrome615547C3809877OMIM15806814605283
HP:0003593HP:0003593Infantile onset0MAST1 CL E G H22983618273618273618273OMIM15019034612256
HP:0003593HP:0003593Infantile onset0MAST1 CL E G H22983618273618273618273OMIM15719034612256
HP:0003593HP:0003593Infantile onset0MCOLN1 CL E G H57192252650Mucolipidosis type IV252650C0238286OMIM144813356605248
HP:0003593HP:0003593Infantile onset0MCOLN1 CL E G H57192252650Mucolipidosis type IV252650C0238286OMIM141813356605248
HP:0003593HP:0003593Infantile onset0MED13L CL E G H23389616789Mental retardation and distinctive facial features with or without cardiac defects616789C4225208OMIM159622962608771
HP:0003593HP:0003593Infantile onset0MED13L CL E G H23389616789Mental retardation and distinctive facial features with or without cardiac defects616789C4225208OMIM156622962608771
HP:0003593HP:0003593Infantile onset0METTL23 CL E G H124512615942Mental retardation, autosomal recessive 44615942C4014745OMIM15326988615262
HP:0003593HP:0003593Infantile onset0MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM111324858614785
HP:0003593HP:0003593Infantile onset0MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM110224858614785
HP:0003593HP:0003593Infantile onset0MFN2 CL E G H9927601152Hereditary motor and sensory neuropathy with optic atrophy601152C0393807OMIM182416877608507
HP:0003593HP:0003593Infantile onset0MFN2 CL E G H9927601152Hereditary motor and sensory neuropathy with optic atrophy601152C0393807OMIM194416877608507
HP:0003593HP:0003593Infantile onset0MIPEP CL E G H4285617228Combined oxidative phosphorylation deficiency 31617228C4310661OMIM11727104602241
HP:0003593HP:0003593Infantile onset0MIPEP CL E G H4285617228Combined oxidative phosphorylation deficiency 31617228C4310661OMIM11637104602241
HP:0003593HP:0003593Infantile onset0MLC1 CL E G H23209604004Megalencephalic leukoencephalopathy with subcortical cysts 1604004C1858854OMIM148017082605908
HP:0003593HP:0003593Infantile onset0MLC1 CL E G H23209604004Megalencephalic leukoencephalopathy with subcortical cysts 1604004C1858854OMIM150717082605908
HP:0003593HP:0003593Infantile onset0MMAA CL E G H166785251100Methylmalonic aciduria cblA type251100C1855109OMIM135918871607481
HP:0003593HP:0003593Infantile onset0MMAA CL E G H166785251100Methylmalonic aciduria cblA type251100C1855109OMIM133518871607481
HP:0003593HP:0003593Infantile onset0MMACHC CL E G H25974277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM134824525609831
HP:0003593HP:0003593Infantile onset0MMACHC CL E G H25974277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM138524525609831
HP:0003593HP:0003593Infantile onset0MMADHC CL E G H27249277410Methylmalonic acidemia with homocystinuria cblD277410C1848552OMIM117525221611935
HP:0003593HP:0003593Infantile onset0MMADHC CL E G H27249277410Methylmalonic acidemia with homocystinuria cblD277410C1848552OMIM120125221611935
HP:0003593HP:0003593Infantile onset0MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12367166120360
HP:0003593HP:0003593Infantile onset0MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM11997166120360
HP:0003593HP:0003593Infantile onset0MPV17 CL E G H4358256810Navajo neurohepatopathy256810C1850406OMIM11557224137960
HP:0003593HP:0003593Infantile onset0MPV17 CL E G H4358256810Navajo neurohepatopathy256810C1850406OMIM11707224137960
HP:0003593HP:0003593Infantile onset0MPZ CL E G H4359145900Dejerine-Sottas disease145900C0011195OMIM15227225159440
HP:0003593HP:0003593Infantile onset0MPZ CL E G H4359145900Dejerine-Sottas disease145900C0011195OMIM14937225159440
HP:0003593HP:0003593Infantile onset0MRPL44 CL E G H65080615395Combined oxidative phosphorylation deficiency 16615395C3809339OMIM18016650611849
HP:0003593HP:0003593Infantile onset0MRPL44 CL E G H65080615395Combined oxidative phosphorylation deficiency 16615395C3809339OMIM110016650611849
HP:0003593HP:0003593Infantile onset0MRPS2 CL E G H51116617950COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 36617950CN244569OMIM16214495611971
HP:0003593HP:0003593Infantile onset0MRPS2 CL E G H51116617950COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 36617950CN244569OMIM16014495611971
HP:0003593HP:0003593Infantile onset0MRPS7 CL E G H51081617872COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34617872CN807947OMIM16714499611974
HP:0003593HP:0003593Infantile onset0MRPS7 CL E G H51081617872COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34617872CN807947OMIM16314499611974
HP:0003593HP:0003593Infantile onset0MTFMT CL E G H123263618248MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27618248OMIM113229666611766
HP:0003593HP:0003593Infantile onset0MTFMT CL E G H123263618248MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27618248OMIM116229666611766
HP:0003593HP:0003593Infantile onset0MTOR CL E G H2475607341Focal cortical dysplasia type II607341C1846385OMIM113503942601231
HP:0003593HP:0003593Infantile onset0MTOR CL E G H2475607341Focal cortical dysplasia type II607341C1846385OMIM111683942601231
HP:0003593HP:0003593Infantile onset0MTR CL E G H4548250940METHYLCOBALAMIN DEFICIENCY, cblG TYPE250940C1855128OMIM16647468156570
HP:0003593HP:0003593Infantile onset0MTR CL E G H4548250940METHYLCOBALAMIN DEFICIENCY, cblG TYPE250940C1855128OMIM15807468156570
HP:0003593HP:0003593Infantile onset0MTRR CL E G H4552236270Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type236270C1856057OMIM15847473602568
HP:0003593HP:0003593Infantile onset0MTRR CL E G H4552236270Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type236270C1856057OMIM15237473602568
HP:0003593HP:0003593Infantile onset0MUSK CL E G H4593616325Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency616325C4225368OMIM14507525601296
HP:0003593HP:0003593Infantile onset0MUSK CL E G H4593616325Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency616325C4225368OMIM13837525601296
HP:0003593HP:0003593Infantile onset0MYH7 CL E G H4625160500Myopathy, distal, 1160500CN074249OMIM132927577160760
HP:0003593HP:0003593Infantile onset0MYH7 CL E G H4625160500Myopathy, distal, 1160500CN074249OMIM129607577160760
HP:0003593HP:0003593Infantile onset0MYMK CL E G H389827254940Congenital nonprogressive myopathy with Moebius and Robin sequences254940C1850746OMIM17733778615345
HP:0003593HP:0003593Infantile onset0MYO5A CL E G H4644214450Griscelli syndrome type 1214450C1859194OMIM12297602160777
HP:0003593HP:0003593Infantile onset0MYO5A CL E G H4644214450Griscelli syndrome type 1214450C1859194OMIM12227602160777
HP:0003593HP:0003593Infantile onset0NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM11697631104170
HP:0003593HP:0003593Infantile onset0NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM11577631104170
HP:0003593HP:0003593Infantile onset0NDUFA10 CL E G H4705618243MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22618243OMIM13367684603835
HP:0003593HP:0003593Infantile onset0NDUFA10 CL E G H4705618243MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22618243OMIM13597684603835
HP:0003593HP:0003593Infantile onset0NDUFA13 CL E G H51079618249MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28618249OMIM11917194609435
HP:0003593HP:0003593Infantile onset0NDUFA13 CL E G H51079618249MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28618249OMIM11817194609435
HP:0003593HP:0003593Infantile onset0NDUFAF1 CL E G H51103618234MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11618234OMIM19118828606934
HP:0003593HP:0003593Infantile onset0NDUFAF1 CL E G H51103618234MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11618234OMIM110218828606934
HP:0003593HP:0003593Infantile onset0NDUFB8 CL E G H4714618252MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32618252OMIM1387703602140
HP:0003593HP:0003593Infantile onset0NDUFB8 CL E G H4714618252MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32618252OMIM1257703602140
HP:0003593HP:0003593Infantile onset0NDUFB9 CL E G H4715618245MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 24618245OMIM11097704601445
HP:0003593HP:0003593Infantile onset0NDUFB9 CL E G H4715618245MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 24618245OMIM1987704601445
HP:0003593HP:0003593Infantile onset0NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM13017707157655
HP:0003593HP:0003593Infantile onset0NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM12637707157655
HP:0003593HP:0003593Infantile onset0NDUFS2 CL E G H4720618228MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6618228OMIM11397708602985
HP:0003593HP:0003593Infantile onset0NDUFS2 CL E G H4720618228MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6618228OMIM11607708602985
HP:0003593HP:0003593Infantile onset0NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11017711602694
HP:0003593HP:0003593Infantile onset0NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM1977711602694
HP:0003593HP:0003593Infantile onset0NDUFV1 CL E G H4723618225MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4618225OMIM11747716161015
HP:0003593HP:0003593Infantile onset0NDUFV1 CL E G H4723618225MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4618225OMIM12007716161015
HP:0003593HP:0003593Infantile onset0NDUFV2 CL E G H4729618229MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7618229OMIM11807717600532
HP:0003593HP:0003593Infantile onset0NDUFV2 CL E G H4729618229MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7618229OMIM11637717600532
HP:0003593HP:0003593Infantile onset0NEB CL E G H4703256030Nemaline myopathy 2256030C1850569OMIM153137720161650
HP:0003593HP:0003593Infantile onset0NEB CL E G H4703256030Nemaline myopathy 2256030C1850569OMIM146747720161650
HP:0003593HP:0003593Infantile onset0NFE2L2 CL E G H4780617744IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA617744C4540293OMIM1707782600492
HP:0003593HP:0003593Infantile onset0NFE2L2 CL E G H4780617744IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA617744C4540293OMIM11067782600492
HP:0003593HP:0003593Infantile onset0NFKBIA CL E G H4792612132Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant612132C2677481OMIM11767797164008
HP:0003593HP:0003593Infantile onset0NFKBIA CL E G H4792612132Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant612132C2677481OMIM11527797164008
HP:0003593HP:0003593Infantile onset0NGF CL E G H4803608654Congenital sensory neuropathy with selective loss of small myelinated fibers608654C0020075OMIM11477808162030
HP:0003593HP:0003593Infantile onset0NGF CL E G H4803608654Congenital sensory neuropathy with selective loss of small myelinated fibers608654C0020075OMIM11217808162030
HP:0003593HP:0003593Infantile onset0NKX6-2 CL E G H84504617560SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY617560C4479653OMIM111919321605955
HP:0003593HP:0003593Infantile onset0NKX6-2 CL E G H84504617560SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY617560C4479653OMIM115119321605955
HP:0003593HP:0003593Infantile onset0NLRP12 CL E G H91662611762Familial cold autoinflammatory syndrome 2611762C2673198OMIM173322938609648
HP:0003593HP:0003593Infantile onset0NLRP12 CL E G H91662611762Familial cold autoinflammatory syndrome 2611762C2673198OMIM159722938609648
HP:0003593HP:0003593Infantile onset0NLRP3 CL E G H114548191900Familial amyloid nephropathy with urticaria AND deafness191900C0268390OMIM167616400606416
HP:0003593HP:0003593Infantile onset0NLRP3 CL E G H114548191900Familial amyloid nephropathy with urticaria AND deafness191900C0268390OMIM160516400606416
HP:0003593HP:0003593Infantile onset0NLRP3 CL E G H114548120100Familial cold urticaria120100C0343068OMIM167616400606416
HP:0003593HP:0003593Infantile onset0NLRP3 CL E G H114548120100Familial cold urticaria120100C0343068OMIM160516400606416
HP:0003593HP:0003593Infantile onset0NR3C2 CL E G H4306177735Pseudohypoaldosteronism type 1 autosomal dominant177735C1449842OMIM12357979600983
HP:0003593HP:0003593Infantile onset0NR3C2 CL E G H4306177735Pseudohypoaldosteronism type 1 autosomal dominant177735C1449842OMIM12307979600983
HP:0003593HP:0003593Infantile onset0NTRK1 CL E G H4914256800Hereditary insensitivity to pain with anhidrosis256800C0020074OMIM18208031191315
HP:0003593HP:0003593Infantile onset0NTRK1 CL E G H4914256800Hereditary insensitivity to pain with anhidrosis256800C0020074OMIM17328031191315
HP:0003593HP:0003593Infantile onset0OPHN1 CL E G H4983300486Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance300486C1845366OMIM13588148300127
HP:0003593HP:0003593Infantile onset0OPHN1 CL E G H4983300486Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance300486C1845366OMIM13448148300127
HP:0003593HP:0003593Infantile onset0PAK1 CL E G H5058618158INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY618158OMIM1348590602590
HP:0003593HP:0003593Infantile onset0PAK1 CL E G H5058618158INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY618158OMIM1318590602590
HP:0003593HP:0003593Infantile onset0PARN CL E G H5073616353Dyskeratosis congenita, autosomal recessive 6616353C4225356OMIM13568609604212
HP:0003593HP:0003593Infantile onset0PARN CL E G H5073616353Dyskeratosis congenita, autosomal recessive 6616353C4225356OMIM12668609604212
HP:0003593HP:0003593Infantile onset0PAX2 CL E G H5076120330Renal coloboma syndrome120330C1852759OMIM12508616167409
HP:0003593HP:0003593Infantile onset0PAX2 CL E G H5076120330Renal coloboma syndrome120330C1852759OMIM11948616167409
HP:0003593HP:0003593Infantile onset0PCDH12 CL E G H51294251280Microcephaly with spastic quadriplegia251280C1855055OMIM11708657605622
HP:0003593HP:0003593Infantile onset0PCDH12 CL E G H51294251280Microcephaly with spastic quadriplegia251280C1855055OMIM1908657605622
HP:0003593HP:0003593Infantile onset0PCDH15 CL E G H65217609533Deafness, autosomal recessive 23609533C1836027OMIM1198514674605514
HP:0003593HP:0003593Infantile onset0PCDH15 CL E G H65217609533Deafness, autosomal recessive 23609533C1836027OMIM1170914674605514
HP:0003593HP:0003593Infantile onset0PCDH19 CL E G H57526300088Early infantile epileptic encephalopathy 9300088C1848137OMIM192114270300460
HP:0003593HP:0003593Infantile onset0PCDH19 CL E G H57526300088Early infantile epileptic encephalopathy 9300088C1848137OMIM1103814270300460
HP:0003593HP:0003593Infantile onset0PCK1 CL E G H5105261680Phosphoenolpyruvate carboxykinase deficiency, cytosolic261680C1849814OMIM11548724614168
HP:0003593HP:0003593Infantile onset0PCK1 CL E G H5105261680Phosphoenolpyruvate carboxykinase deficiency, cytosolic261680C1849814OMIM11398724614168
HP:0003593HP:0003593Infantile onset0PDE10A CL E G H10846616921Dyskinesia, limb and orofacial, infantile-onset616921C4310792OMIM11138772610652
HP:0003593HP:0003593Infantile onset0PDE10A CL E G H10846616921Dyskinesia, limb and orofacial, infantile-onset616921C4310792OMIM1898772610652
HP:0003593HP:0003593Infantile onset0PDHA1 CL E G H5160312170Pyruvate dehydrogenase E1-alpha deficiency312170C1839413OMIM15308806300502
HP:0003593HP:0003593Infantile onset0PDHA1 CL E G H5160312170Pyruvate dehydrogenase E1-alpha deficiency312170C1839413OMIM15388806300502
HP:0003593HP:0003593Infantile onset0PDP1 CL E G H54704608782Pyruvate dehydrogenase phosphatase deficiency608782C1837429OMIM11079279605993
HP:0003593HP:0003593Infantile onset0PDP1 CL E G H54704608782Pyruvate dehydrogenase phosphatase deficiency608782C1837429OMIM1879279605993
HP:0003593HP:0003593Infantile onset0PGAP3 CL E G H93210615716Hyperphosphatasia with mental retardation syndrome 4615716C3810354OMIM18723719611801
HP:0003593HP:0003593Infantile onset0PGAP3 CL E G H93210615716Hyperphosphatasia with mental retardation syndrome 4615716C3810354OMIM18023719611801
HP:0003593HP:0003593Infantile onset0PHIP CL E G H55023617991DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES617991CN248510OMIM116315673612870
HP:0003593HP:0003593Infantile onset0PHIP CL E G H55023617991DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES617991CN248510OMIM118315673612870
HP:0003593HP:0003593Infantile onset0PHKG2 CL E G H5261613027Glycogen storage disease IXc613027C2751643OMIM11568931172471
HP:0003593HP:0003593Infantile onset0PHKG2 CL E G H5261613027Glycogen storage disease IXc613027C2751643OMIM11488931172471
HP:0003593HP:0003593Infantile onset0PIGT CL E G H51604615398Multiple congenital anomalies-hypotonia-seizures syndrome 3615398C3809356OMIM114214938610272
HP:0003593HP:0003593Infantile onset0PIGT CL E G H51604615398Multiple congenital anomalies-hypotonia-seizures syndrome 3615398C3809356OMIM111814938610272
HP:0003593HP:0003593Infantile onset0PIK3R1 CL E G H5295615214Agammaglobulinemia 7, autosomal recessive615214C3554689OMIM12628979171833
HP:0003593HP:0003593Infantile onset0PIK3R1 CL E G H5295615214Agammaglobulinemia 7, autosomal recessive615214C3554689OMIM13078979171833
HP:0003593HP:0003593Infantile onset0PINK1 CL E G H65018605909Parkinson disease 6, autosomal recessive early-onset605909C1853833OMIM127114581608309
HP:0003593HP:0003593Infantile onset0PINK1 CL E G H65018605909Parkinson disease 6, autosomal recessive early-onset605909C1853833OMIM123314581608309
HP:0003593HP:0003593Infantile onset0PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM14319039603604
HP:0003593HP:0003593Infantile onset0PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM15139039603604
HP:0003593HP:0003593Infantile onset0PLCG2 CL E G H5336614878Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated614878C3553961OMIM16779066600220
HP:0003593HP:0003593Infantile onset0PLCG2 CL E G H5336614878Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated614878C3553961OMIM18219066600220
HP:0003593HP:0003593Infantile onset0PLEKHG2 CL E G H64857616763Leukodystrophy and acquired microcephaly with or without dystonia616763C4225213OMIM118829515611893
HP:0003593HP:0003593Infantile onset0PLEKHG2 CL E G H64857616763Leukodystrophy and acquired microcephaly with or without dystonia616763C4225213OMIM111729515611893
HP:0003593HP:0003593Infantile onset0PLG CL E G H5340217090Plasminogen deficiency, type I217090C1968804OMIM11659071173350
HP:0003593HP:0003593Infantile onset0PLG CL E G H5340217090Plasminogen deficiency, type I217090C1968804OMIM11599071173350
HP:0003593HP:0003593Infantile onset0PLP1 CL E G H5354312080Pelizaeus-Merzbacher disease312080C0205711OMIM13659086300401
HP:0003593HP:0003593Infantile onset0PLP1 CL E G H5354312080Pelizaeus-Merzbacher disease312080C0205711OMIM13359086300401
HP:0003593HP:0003593Infantile onset0PMP22 CL E G H5376145900Dejerine-Sottas disease145900C0011195OMIM14199118601097
HP:0003593HP:0003593Infantile onset0PMP22 CL E G H5376145900Dejerine-Sottas disease145900C0011195OMIM13909118601097
HP:0003593HP:0003593Infantile onset0PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM113418667613036
HP:0003593HP:0003593Infantile onset0PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM112818667613036
HP:0003593HP:0003593Infantile onset0PNKD CL E G H25953118800Paroxysmal nonkinesigenic dyskinesia 1118800OMIM13819153609023
HP:0003593HP:0003593Infantile onset0PNKD CL E G H25953118800Paroxysmal nonkinesigenic dyskinesia 1118800OMIM13339153609023
HP:0003593HP:0003593Infantile onset0PNPLA8 CL E G H50640251950Mitochondrial myopathy with lactic acidosis251950C1855033OMIM16828900612123
HP:0003593HP:0003593Infantile onset0PNPLA8 CL E G H50640251950Mitochondrial myopathy with lactic acidosis251950C1855033OMIM15628900612123
HP:0003593HP:0003593Infantile onset0POLG CL E G H5428613662Mitochondrial DNA depletion syndrome 4B, MNGIE type613662C3150914OMIM117129179174763
HP:0003593HP:0003593Infantile onset0POLG CL E G H5428613662Mitochondrial DNA depletion syndrome 4B, MNGIE type613662C3150914OMIM114709179174763
HP:0003593HP:0003593Infantile onset0POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM117129179174763
HP:0003593HP:0003593Infantile onset0POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM114709179174763
HP:0003593HP:0003593Infantile onset0POMC CL E G H5443609734Proopiomelanocortin deficiency609734C1857854OMIM1959201176830
HP:0003593HP:0003593Infantile onset0POMC CL E G H5443609734Proopiomelanocortin deficiency609734C1857854OMIM1889201176830
HP:0003593HP:0003593Infantile onset0POMK CL E G H84197616094Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12616094C4015184OMIM119226267615247
HP:0003593HP:0003593Infantile onset0POMK CL E G H84197616094Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12616094C4015184OMIM122426267615247
HP:0003593HP:0003593Infantile onset0POMT1 CL E G H10585613155Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1613155C3150415OMIM16869202607423
HP:0003593HP:0003593Infantile onset0POMT1 CL E G H10585613155Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1613155C3150415OMIM16099202607423
HP:0003593HP:0003593Infantile onset0POMT1 CL E G H10585609308Limb-girdle muscular dystrophy-dystroglycanopathy, type C1609308C1836373OMIM16869202607423
HP:0003593HP:0003593Infantile onset0POMT1 CL E G H10585609308Limb-girdle muscular dystrophy-dystroglycanopathy, type C1609308C1836373OMIM16099202607423
HP:0003593HP:0003593Infantile onset0POMT2 CL E G H29954613158Limb-girdle muscular dystrophy-dystroglycanopathy, type C2613158C3150418OMIM169119743607439
HP:0003593HP:0003593Infantile onset0POMT2 CL E G H29954613158Limb-girdle muscular dystrophy-dystroglycanopathy, type C2613158C3150418OMIM160419743607439
HP:0003593HP:0003593Infantile onset0PRDX1 CL E G H5052277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM1359352176763
HP:0003593HP:0003593Infantile onset0PRDX1 CL E G H5052277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM1319352176763
HP:0003593HP:0003593Infantile onset0PRKCD CL E G H5580615559Autoimmune lymphoproliferative syndrome, type III615559C3809928OMIM12779399176977
HP:0003593HP:0003593Infantile onset0PRKCD CL E G H5580615559Autoimmune lymphoproliferative syndrome, type III615559C3809928OMIM12259399176977
HP:0003593HP:0003593Infantile onset0PRKDC CL E G H5591615966Immunodeficiency 26 with or without neurologic abnormalities615966C4014833OMIM113109413600899
HP:0003593HP:0003593Infantile onset0PRKDC CL E G H5591615966Immunodeficiency 26 with or without neurologic abnormalities615966C4014833OMIM19839413600899
HP:0003593HP:0003593Infantile onset0PRMT7 CL E G H54496617157Short stature, brachydactyly, intellectual developmental disability, and seizures617157C4310689OMIM111325557610087
HP:0003593HP:0003593Infantile onset0PRMT7 CL E G H54496617157Short stature, brachydactyly, intellectual developmental disability, and seizures617157C4310689OMIM19825557610087
HP:0003593HP:0003593Infantile onset0PRX CL E G H57716145900Dejerine-Sottas disease145900C0011195OMIM197213797605725
HP:0003593HP:0003593Infantile onset0PRX CL E G H57716145900Dejerine-Sottas disease145900C0011195OMIM186113797605725
HP:0003593HP:0003593Infantile onset0PSAP CL E G H5660611722Krabbe disease atypical due to Saposin A deficiency611722C2673266OMIM15029498176801
HP:0003593HP:0003593Infantile onset0PSAP CL E G H5660611722Krabbe disease atypical due to Saposin A deficiency611722C2673266OMIM13909498176801
HP:0003593HP:0003593Infantile onset0PSAT1 CL E G H29968610992Phosphoserine aminotransferase deficiency610992C1970253OMIM139919129610936
HP:0003593HP:0003593Infantile onset0PSAT1 CL E G H29968610992Phosphoserine aminotransferase deficiency610992C1970253OMIM135619129610936
HP:0003593HP:0003593Infantile onset0PSPH CL E G H5723614023Deficiency of phosphoserine phosphatase614023C1291463OMIM11159577172480
HP:0003593HP:0003593Infantile onset0PSPH CL E G H5723614023Deficiency of phosphoserine phosphatase614023C1291463OMIM11469577172480
HP:0003593HP:0003593Infantile onset0PTPRQ CL E G H374462613391Deafness, autosomal recessive 84613391C3150654OMIM13269679603317
HP:0003593HP:0003593Infantile onset0PTPRQ CL E G H374462613391Deafness, autosomal recessive 84613391C3150654OMIM13379679603317
HP:0003593HP:0003593Infantile onset0PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM11649689612719
HP:0003593HP:0003593Infantile onset0PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM11859689612719
HP:0003593HP:0003593Infantile onset0PUS3 CL E G H83480617051Mental retardation, autosomal recessive 55617051C4310745OMIM118725461616283
HP:0003593HP:0003593Infantile onset0PUS3 CL E G H83480617051Mental retardation, autosomal recessive 55617051C4310745OMIM116625461616283
HP:0003593HP:0003593Infantile onset0QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM12249752612676
HP:0003593HP:0003593Infantile onset0QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM11729752612676
HP:0003593HP:0003593Infantile onset0RAB27A CL E G H5873607624Griscelli syndrome type 2607624C1868679OMIM12289766603868
HP:0003593HP:0003593Infantile onset0RAB27A CL E G H5873607624Griscelli syndrome type 2607624C1868679OMIM12049766603868
HP:0003593HP:0003593Infantile onset0RAG1 CL E G H5896233650Combined cellular and humoral immune defects with granulomas233650C2673536OMIM14919831179615
HP:0003593HP:0003593Infantile onset0RAG1 CL E G H5896233650Combined cellular and humoral immune defects with granulomas233650C2673536OMIM14269831179615
HP:0003593HP:0003593Infantile onset0RAG2 CL E G H5897233650Combined cellular and humoral immune defects with granulomas233650C2673536OMIM13259832179616
HP:0003593HP:0003593Infantile onset0RAG2 CL E G H5897233650Combined cellular and humoral immune defects with granulomas233650C2673536OMIM12789832179616
HP:0003593HP:0003593Infantile onset0RASGRP2 CL E G H10235615888Platelet-type bleeding disorder 18615888C4014584OMIM1819879605577
HP:0003593HP:0003593Infantile onset0RDX CL E G H5962611022Deafness, autosomal recessive 24611022C1970239OMIM12079944179410
HP:0003593HP:0003593Infantile onset0RDX CL E G H5962611022Deafness, autosomal recessive 24611022C1970239OMIM11979944179410
HP:0003593HP:0003593Infantile onset0RERE CL E G H473616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart616975C4310772OMIM12579965605226
HP:0003593HP:0003593Infantile onset0RERE CL E G H473616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart616975C4310772OMIM12299965605226
HP:0003593HP:0003593Infantile onset0RETREG1 CL E G H54463201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM141625964613114
HP:0003593HP:0003593Infantile onset0RETREG1 CL E G H54463201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM136825964613114
HP:0003593HP:0003593Infantile onset0RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM132430220611908
HP:0003593HP:0003593Infantile onset0RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM123330220611908
HP:0003593HP:0003593Infantile onset0RNASEH2A CL E G H10535610333Aicardi Goutieres syndrome 4610333C1835912OMIM125918518606034
HP:0003593HP:0003593Infantile onset0RNASEH2A CL E G H10535610333Aicardi Goutieres syndrome 4610333C1835912OMIM118618518606034
HP:0003593HP:0003593Infantile onset0ROR1 CL E G H4919617654DEAFNESS, AUTOSOMAL RECESSIVE 108617654C4539997OMIM15310256602336
HP:0003593HP:0003593Infantile onset0ROR1 CL E G H4919617654DEAFNESS, AUTOSOMAL RECESSIVE 108617654C4539997OMIM17110256602336
HP:0003593HP:0003593Infantile onset0RORC CL E G H6097616622Immunodeficiency 42616622C4225266OMIM115310260602943
HP:0003593HP:0003593Infantile onset0RORC CL E G H6097616622Immunodeficiency 42616622C4225266OMIM112210260602943
HP:0003593HP:0003593Infantile onset0RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM196429168610937
HP:0003593HP:0003593Infantile onset0RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM179429168610937
HP:0003593HP:0003593Infantile onset0RPL35A CL E G H6165612528Diamond-Blackfan anemia 5612528C2675859OMIM111210345180468
HP:0003593HP:0003593Infantile onset0RPL35A CL E G H6165612528Diamond-Blackfan anemia 5612528C2675859OMIM110110345180468
HP:0003593HP:0003593Infantile onset0RPS19 CL E G H6223105650Diamond-Blackfan anemia 1105650C2676137OMIM112310402603474
HP:0003593HP:0003593Infantile onset0RPS19 CL E G H6223105650Diamond-Blackfan anemia 1105650C2676137OMIM111110402603474
HP:0003593HP:0003593Infantile onset0RPS26 CL E G H6231613309Diamond-Blackfan anemia 10613309C2750080OMIM17010414603701
HP:0003593HP:0003593Infantile onset0RPS26 CL E G H6231613309Diamond-Blackfan anemia 10613309C2750080OMIM18010414603701
HP:0003593HP:0003593Infantile onset0RPS28 CL E G H6234606164Diamond-Blackfan anemia 15 with mandibulofacial dysostosis606164C1853576OMIM11810418603685
HP:0003593HP:0003593Infantile onset0RPSA CL E G H3921271400Asplenia, isolated congenital271400C0685889OMIM1406502150370
HP:0003593HP:0003593Infantile onset0RPSA CL E G H3921271400Asplenia, isolated congenital271400C0685889OMIM1276502150370
HP:0003593HP:0003593Infantile onset0RUSC2 CL E G H9853617773MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61617773C4540424OMIM111823625611053
HP:0003593HP:0003593Infantile onset0RUSC2 CL E G H9853617773MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61617773C4540424OMIM141223625611053
HP:0003593HP:0003593Infantile onset0RYR1 CL E G H6261117000117000117000OMIM1460410483180901
HP:0003593HP:0003593Infantile onset0RYR1 CL E G H6261117000117000117000OMIM1410110483180901
HP:0003593HP:0003593Infantile onset0S1PR2 CL E G H9294610419Deafness, autosomal recessive 68610419C1835854OMIM1623169605111
HP:0003593HP:0003593Infantile onset0S1PR2 CL E G H9294610419Deafness, autosomal recessive 68610419C1835854OMIM1553169605111
HP:0003593HP:0003593Infantile onset0SACS CL E G H26278270550Spastic ataxia Charlevoix-Saguenay type270550C1849140OMIM1191410519604490
HP:0003593HP:0003593Infantile onset0SACS CL E G H26278270550Spastic ataxia Charlevoix-Saguenay type270550C1849140OMIM1208810519604490
HP:0003593HP:0003593Infantile onset0SAR1B CL E G H51128246700Chylomicron retention disease246700C0795956OMIM18210535607690
HP:0003593HP:0003593Infantile onset0SAR1B CL E G H51128246700Chylomicron retention disease246700C0795956OMIM15810535607690
HP:0003593HP:0003593Infantile onset0SARS2 CL E G H54938613845Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis613845C3151209OMIM118117697612804
HP:0003593HP:0003593Infantile onset0SARS2 CL E G H54938613845Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis613845C3151209OMIM117317697612804
HP:0003593HP:0003593Infantile onset0SASH1 CL E G H23328127500Dyschromatosis universalis hereditaria 1127500C2675711OMIM19719182607955
HP:0003593HP:0003593Infantile onset0SCN1A CL E G H6323607208Severe myoclonic epilepsy in infancy607208C0751122OMIM1307610585182389
HP:0003593HP:0003593Infantile onset0SCN1A CL E G H6323607208Severe myoclonic epilepsy in infancy607208C0751122OMIM1271310585182389
HP:0003593HP:0003593Infantile onset0SCN2A CL E G H6326613721Early infantile epileptic encephalopathy 11613721C3150987OMIM1167010588182390
HP:0003593HP:0003593Infantile onset0SCN2A CL E G H6326613721Early infantile epileptic encephalopathy 11613721C3150987OMIM1147910588182390
HP:0003593HP:0003593Infantile onset0SCN3A CL E G H6328617938Early infantile epileptic encephalopathy 62617938CN244551OMIM174210590182391
HP:0003593HP:0003593Infantile onset0SCN3A CL E G H6328617938Early infantile epileptic encephalopathy 62617938CN244551OMIM189710590182391
HP:0003593HP:0003593Infantile onset0SCN4A CL E G H6329614198Congenital myasthenic syndrome, acetazolamide-responsive614198C3502630OMIM1124110591603967
HP:0003593HP:0003593Infantile onset0SCN4A CL E G H6329614198Congenital myasthenic syndrome, acetazolamide-responsive614198C3502630OMIM1108110591603967
HP:0003593HP:0003593Infantile onset0SCN4A CL E G H6329170500Hyperkalemic Periodic Paralysis Type 1170500CN074266OMIM1124110591603967
HP:0003593HP:0003593Infantile onset0SCN4A CL E G H6329170500Hyperkalemic Periodic Paralysis Type 1170500CN074266OMIM1108110591603967
HP:0003593HP:0003593Infantile onset0SCN4A CL E G H6329168300Paramyotonia congenita of von Eulenburg168300C0221055OMIM1124110591603967
HP:0003593HP:0003593Infantile onset0SCN4A CL E G H6329168300Paramyotonia congenita of von Eulenburg168300C0221055OMIM1108110591603967
HP:0003593HP:0003593Infantile onset0SCN9A CL E G H6335201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1170810597603415
HP:0003593HP:0003593Infantile onset0SCN9A CL E G H6335201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1143810597603415
HP:0003593HP:0003593Infantile onset0SCN9A CL E G H6335243000Indifference to pain, congenital, autosomal recessive243000C1855739OMIM1170810597603415
HP:0003593HP:0003593Infantile onset0SCN9A CL E G H6335243000Indifference to pain, congenital, autosomal recessive243000C1855739OMIM1143810597603415
HP:0003593HP:0003593Infantile onset0SCNN1A CL E G H6337264350Pseudohypoaldosteronism type 1 autosomal recessive264350C1449843OMIM120710599600228
HP:0003593HP:0003593Infantile onset0SCNN1A CL E G H6337264350Pseudohypoaldosteronism type 1 autosomal recessive264350C1449843OMIM121410599600228
HP:0003593HP:0003593Infantile onset0SCNN1B CL E G H6338264350Pseudohypoaldosteronism type 1 autosomal recessive264350C1449843OMIM120510600600760
HP:0003593HP:0003593Infantile onset0SCNN1B CL E G H6338264350Pseudohypoaldosteronism type 1 autosomal recessive264350C1449843OMIM120110600600760
HP:0003593HP:0003593Infantile onset0SCNN1G CL E G H6340264350Pseudohypoaldosteronism type 1 autosomal recessive264350C1449843OMIM116210602600761
HP:0003593HP:0003593Infantile onset0SCNN1G CL E G H6340264350Pseudohypoaldosteronism type 1 autosomal recessive264350C1449843OMIM116310602600761
HP:0003593HP:0003593Infantile onset0SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1177810680600857
HP:0003593HP:0003593Infantile onset0SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1154510680600857
HP:0003593HP:0003593Infantile onset0SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1177810680600857
HP:0003593HP:0003593Infantile onset0SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1154510680600857
HP:0003593HP:0003593Infantile onset0SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM15433867612848
HP:0003593HP:0003593Infantile onset0SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM14633867612848
HP:0003593HP:0003593Infantile onset0SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM150710683602690
HP:0003593HP:0003593Infantile onset0SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM144210683602690
HP:0003593HP:0003593Infantile onset0SELENON CL E G H57190602771Eichsfeld type congenital muscular dystrophy602771C0410180OMIM150515999606210
HP:0003593HP:0003593Infantile onset0SELENON CL E G H57190602771Eichsfeld type congenital muscular dystrophy602771C0410180OMIM145415999606210
HP:0003593HP:0003593Infantile onset0SEPSECS CL E G H51091613811Pontocerebellar hypoplasia type 2D613811C3151140OMIM129230605613009
HP:0003593HP:0003593Infantile onset0SEPSECS CL E G H51091613811Pontocerebellar hypoplasia type 2D613811C3151140OMIM132930605613009
HP:0003593HP:0003593Infantile onset0SFTPB CL E G H6439265120Surfactant metabolism dysfunction, pulmonary, 1265120C1968602OMIM113010801178640
HP:0003593HP:0003593Infantile onset0SFTPB CL E G H6439265120Surfactant metabolism dysfunction, pulmonary, 1265120C1968602OMIM113210801178640
HP:0003593HP:0003593Infantile onset0SIL1 CL E G H64374248800Marinesco-Sjögren syndrome248800C0024814OMIM121724624608005
HP:0003593HP:0003593Infantile onset0SIL1 CL E G H64374248800Marinesco-Sjögren syndrome248800C0024814OMIM120624624608005
HP:0003593HP:0003593Infantile onset0SLC10A2 CL E G H6555613291Bile acid malabsorption, primary613291C2750087OMIM116910906601295
HP:0003593HP:0003593Infantile onset0SLC10A2 CL E G H6555613291Bile acid malabsorption, primary613291C2750087OMIM116410906601295
HP:0003593HP:0003593Infantile onset0SLC12A5 CL E G H57468616645Early infantile epileptic encephalopathy 34616645C4225257OMIM148913818606726
HP:0003593HP:0003593Infantile onset0SLC12A5 CL E G H57468616645Early infantile epileptic encephalopathy 34616645C4225257OMIM139813818606726
HP:0003593HP:0003593Infantile onset0SLC18A2 CL E G H6571618049PARKINSONISM-DYSTONIA, INFANTILE, 2618049CN248785OMIM110310935193001
HP:0003593HP:0003593Infantile onset0SLC18A2 CL E G H6571618049PARKINSONISM-DYSTONIA, INFANTILE, 2618049CN248785OMIM18010935193001
HP:0003593HP:0003593Infantile onset0SLC25A12 CL E G H8604612949Hypomyelination, global cerebral612949C2751855OMIM128510982603667
HP:0003593HP:0003593Infantile onset0SLC25A12 CL E G H8604612949Hypomyelination, global cerebral612949C2751855OMIM121810982603667
HP:0003593HP:0003593Infantile onset0SLC25A26 CL E G H115286616794Combined oxidative phosphorylation deficiency 28616794C4225206OMIM19920661611037
HP:0003593HP:0003593Infantile onset0SLC25A26 CL E G H115286616794Combined oxidative phosphorylation deficiency 28616794C4225206OMIM19420661611037
HP:0003593HP:0003593Infantile onset0SLC25A38 CL E G H54977205950Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive205950C2673914OMIM115926054610819
HP:0003593HP:0003593Infantile onset0SLC25A38 CL E G H54977205950Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive205950C2673914OMIM115026054610819
HP:0003593HP:0003593Infantile onset0SLC2A1 CL E G H6513606777GLUT1 deficiency syndrome 1606777CN030711OMIM175311005138140
HP:0003593HP:0003593Infantile onset0SLC2A1 CL E G H6513606777GLUT1 deficiency syndrome 1606777CN030711OMIM167211005138140
HP:0003593HP:0003593Infantile onset0SLC2A1 CL E G H6513608885Stomatin-deficient cryohydrocytosis with neurologic defects608885C1837206OMIM175311005138140
HP:0003593HP:0003593Infantile onset0SLC2A1 CL E G H6513608885Stomatin-deficient cryohydrocytosis with neurologic defects608885C1837206OMIM167211005138140
HP:0003593HP:0003593Infantile onset0SLC33A1 CL E G H9197614482Congenital cataracts, hearing loss, and neurodegeneration614482C3280965OMIM112695603690
HP:0003593HP:0003593Infantile onset0SLC33A1 CL E G H9197614482Congenital cataracts, hearing loss, and neurodegeneration614482C3280965OMIM110195603690
HP:0003593HP:0003593Infantile onset0SLC34A3 CL E G H142680241530Autosomal recessive hypophosphatemic bone disease241530C1853271OMIM133820305609826
HP:0003593HP:0003593Infantile onset0SLC34A3 CL E G H142680241530Autosomal recessive hypophosphatemic bone disease241530C1853271OMIM128820305609826
HP:0003593HP:0003593Infantile onset0SLC35A1 CL E G H10559603585Congenital disorder of glycosylation type 2F603585C1970344OMIM19111021605634
HP:0003593HP:0003593Infantile onset0SLC35A1 CL E G H10559603585Congenital disorder of glycosylation type 2F603585C1970344OMIM19711021605634
HP:0003593HP:0003593Infantile onset0SLC35A2 CL E G H7355300896CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm300896C3806688OMIM132911022314375
HP:0003593HP:0003593Infantile onset0SLC35A2 CL E G H7355300896CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm300896C3806688OMIM135311022314375
HP:0003593HP:0003593Infantile onset0SLC39A4 CL E G H55630201100Hereditary acrodermatitis enteropathica201100C0221036OMIM148617129607059
HP:0003593HP:0003593Infantile onset0SLC39A4 CL E G H55630201100Hereditary acrodermatitis enteropathica201100C0221036OMIM144917129607059
HP:0003593HP:0003593Infantile onset0SLC46A1 CL E G H113235229050Congenital defect of folate absorption229050C0342705OMIM123730521611672
HP:0003593HP:0003593Infantile onset0SLC46A1