Human Phenotype Ontology 
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Onset (HP:0003674)help
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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 entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003593HP:0003593Infantile onset0AARS1 CL E G H1620OMIM:616339Epileptic encephalopathy, early infantile, 29
HP:0003593HP:0003593Infantile onset0AARS1 CL E G H1620OMIM:619691TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0003593HP:0003593Infantile onset0AARS2 CL E G H5750521022OMIM:614096Combined oxidative phosphorylation deficiency 8143
HP:0003593HP:0003593Infantile onset0AASS CL E G H1015717366OMIM:238700Hyperlysinemia, type I.15
HP:0003593HP:0003593Infantile onset0ABCB11 CL E G H864742OMIM:601847Cholestasis, progressive familial intrahepatic 2.146
HP:0003593HP:0003593Infantile onset0ABCB4 CL E G H524445OMIM:602347Cholestasis, progressive familial intrahepatic, 3.111
HP:0003593HP:0003593Infantile onset0ABCC6 CL E G H36857OMIM:614473Arterial calcification, generalized, of infancy, 2415
HP:0003593HP:0003593Infantile onset0ABCC9 CL E G H1006060OMIM:619719INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS254
HP:0003593HP:0003593Infantile onset0ABCD3 CL E G H582567OMIM:616278BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS55
HP:0003593HP:0003593Infantile onset0ABHD16A CL E G H792013921OMIM:619735SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86
HP:0003593HP:0003593Infantile onset0ACADSB CL E G H3691OMIM:6100062-Methylbutyryl-Coa dehydrogenase deficiency.111
HP:0003593HP:0003593Infantile onset0ACADVL CL E G H3792OMIM:201475Very long-chain acyl-CoA dehydrogenase deficiency200
HP:0003593HP:0003593Infantile onset0ACO2 CL E G H50118OMIM:614559INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD60
HP:0003593HP:0003593Infantile onset0ACOX1 CL E G H51119OMIM:264470Peroxisomal acyl-coa oxidase deficiency.120
HP:0003593HP:0003593Infantile onset0ACOX2 CL E G H8309120OMIM:617308Bile acid synthesis defect, congenital, 6.2
HP:0003593HP:0003593Infantile onset0ACTA1 CL E G H58129OMIM:616852Myopathy, scapulohumeroperoneal96
HP:0003593HP:0003593Infantile onset0ACTL6B CL E G H51412160OMIM:618470Intellectual developmental disorder with severe speech and ambulation defects.2
HP:0003593HP:0003593Infantile onset0ADA CL E G H100186OMIM:102700Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency75
HP:0003593HP:0003593Infantile onset0ADA2 CL E G H518161839OMIM:182410Sneddon syndrome22
HP:0003593HP:0003593Infantile onset0ADA2 CL E G H518161839OMIM:615688Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome22
HP:0003593HP:0003593Infantile onset0ADAM22 CL E G H53616201OMIM:617933Epileptic encephalopathy, early infantile, 61.
HP:0003593HP:0003593Infantile onset0ADAR CL E G H103225OMIM:615010Aicardi-Goutieres syndrome 6116
HP:0003593HP:0003593Infantile onset0ADAR CL E G H103225OMIM:127400Dyschromatosis symmetrica hereditaria 1.116
HP:0003593HP:0003593Infantile onset0ADAT3 CL E G H11317925151OMIM:615286Mental retardation, autosomal recessive 36.9
HP:0003593HP:0003593Infantile onset0ADCY3 CL E G H109234OMIM:617885Body mass index quantitative trait locus 19
HP:0003593HP:0003593Infantile onset0ADCY5 CL E G H111236OMIM:606703Dyskinesia, familial, with facial myokymia25
HP:0003593HP:0003593Infantile onset0ADCY5 CL E G H111236OMIM:619651NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD25
HP:0003593HP:0003593Infantile onset0ADD3 CL E G H120245OMIM:617008Cerebral palsy, spastic quadriplegic, 33
HP:0003593HP:0003593Infantile onset0ADGRG1 CL E G H92894512OMIM:615752POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE; BPPR88
HP:0003593HP:0003593Infantile onset0ADGRV1 CL E G H8405917416OMIM:604352Febrile seizures, familial, 4.530
HP:0003593HP:0003593Infantile onset0ADK CL E G H132257OMIM:614300Hypermethioninemia due to adenosine kinase deficiency.26
HP:0003593HP:0003593Infantile onset0ADNP CL E G H2339415766OMIM:615873Helsmoortel-van der Aa syndrome.47
HP:0003593HP:0003593Infantile onset0ADSL CL E G H158291OMIM:103050Adenylosuccinase deficiency.118
HP:0003593HP:0003593Infantile onset0AEBP1 CL E G H165303OMIM:618000Ehlers-Danlos syndrome, classic-like, 2
HP:0003593HP:0003593Infantile onset0AFG3L2 CL E G H10939315OMIM:614487Spastic ataxia 5, autosomal recessive.86
HP:0003593HP:0003593Infantile onset0AGK CL E G H5575021869OMIM:212350Sengers syndrome.82
HP:0003593HP:0003593Infantile onset0AGO2 CL E G H271613263OMIM:619149LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0003593HP:0003593Infantile onset0AGTPBP1 CL E G H2328717258OMIM:618276Neurodegeneration, childhood-onset, with cerebellar atrophy1
HP:0003593HP:0003593Infantile onset0AGXT CL E G H189341OMIM:259900Hyperoxaluria, primary, type I260
HP:0003593HP:0003593Infantile onset0AIFM1 CL E G H91318768OMIM:300816Combined oxidative phosphorylation deficiency 6.60
HP:0003593HP:0003593Infantile onset0AIMP2 CL E G H796520609OMIM:618006Leukodystrophy, hypomyelinating, 17.1
HP:0003593HP:0003593Infantile onset0AKT1 CL E G H207391OMIM:176920Proteus syndrome, somatic.54
HP:0003593HP:0003593Infantile onset0ALDH18A1 CL E G H58329722OMIM:616586Spastic paraplegia 9B, autosomal recessive89
HP:0003593HP:0003593Infantile onset0ALDH5A1 CL E G H7915408OMIM:271980Succinic semialdehyde dehydrogenase deficiency108
HP:0003593HP:0003593Infantile onset0ALDOA CL E G H226414OMIM:611881Glycogen storage disease XII50
HP:0003593HP:0003593Infantile onset0ALG11 CL E G H44013832456OMIM:613661Congenital disorder of glycosylation, type Ip.41
HP:0003593HP:0003593Infantile onset0ALG13 CL E G H7986830881OMIM:300884Epileptic encephalopathy, early infantile, 36.96
HP:0003593HP:0003593Infantile onset0ALG14 CL E G H19985728287OMIM:619031INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES; IDDEBF12
HP:0003593HP:0003593Infantile onset0ALG2 CL E G H8536523159OMIM:607906Congenital disorder of glycosylation, type Ii46
HP:0003593HP:0003593Infantile onset0ALG8 CL E G H7905323161OMIM:608104Congenital disorder of glycosylation, type Ih46
HP:0003593HP:0003593Infantile onset0ALPK3 CL E G H5753817574OMIM:618052Cardiomyopathy, familial hypertrophic 2789
HP:0003593HP:0003593Infantile onset0ALS2 CL E G H57679443OMIM:607225Spastic paralysis, infantile-onset ascending.114
HP:0003593HP:0003593Infantile onset0AMBN CL E G H258452OMIM:616270AMELOGENESIS IMPERFECTA, TYPE IF; AI1F2
HP:0003593HP:0003593Infantile onset0AMMECR1 CL E G H9949467OMIM:300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis.2
HP:0003593HP:0003593Infantile onset0AMTN CL E G H40113833188OMIM:617607AMELOGENESIS IMPERFECTA, TYPE IIIB; AI3B1
HP:0003593HP:0003593Infantile onset0ANAPC7 CL E G H5143417380OMIM:619699FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME; FERBON
HP:0003593HP:0003593Infantile onset0ANGPT2 CL E G H285485OMIM:619369LYMPHATIC MALFORMATION 10; LMPHM10
HP:0003593HP:0003593Infantile onset0ANK1 CL E G H286492OMIM:182900Spherocytosis, type 1150
HP:0003593HP:0003593Infantile onset0ANKS6 CL E G H20328626724OMIM:615382Nephronophthisis 1632
HP:0003593HP:0003593Infantile onset0ANOS1 CL E G H37306211OMIM:308700Hypogonadotropic hypogonadism 1 with or without anosmia65
HP:0003593HP:0003593Infantile onset0ANTXR1 CL E G H8416821014OMIM:602089Hemangioma, capillary infantile8
HP:0003593HP:0003593Infantile onset0ANTXR2 CL E G H11842921732OMIM:228600Hyaline fibromatosis syndrome49
HP:0003593HP:0003593Infantile onset0AP1S2 CL E G H8905560OMIM:304340Pettigrew syndrome.13
HP:0003593HP:0003593Infantile onset0AP3B2 CL E G H8120567OMIM:617276EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE487
HP:0003593HP:0003593Infantile onset0APC2 CL E G H1029724036OMIM:618677CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10; CDCBM101
HP:0003593HP:0003593Infantile onset0APC2 CL E G H1029724036OMIM:617169Sotos syndrome 31
HP:0003593HP:0003593Infantile onset0APOB CL E G H338603OMIM:615558Hypobetalipoproteinemia, familial, 1356
HP:0003593HP:0003593Infantile onset0ARFGEF1 CL E G H1056515772OMIM:619964
HP:0003593HP:0003593Infantile onset0ARFGEF2 CL E G H1056415853OMIM:608097Periventricular heterotopia with microcephaly, autosomal recessive.179
HP:0003593HP:0003593Infantile onset0ARPC1B CL E G H10095704OMIM:617718Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
HP:0003593HP:0003593Infantile onset0ARPC4 CL E G H10093707OMIM:620141
HP:0003593HP:0003593Infantile onset0ARSB CL E G H411714OMIM:253200Mucopolysaccharidosis, type VI120
HP:0003593HP:0003593Infantile onset0ARV1 CL E G H6480129561OMIM:617020Epileptic encephalopathy, early infantile, 38.3
HP:0003593HP:0003593Infantile onset0ASH1L CL E G H5587019088OMIM:617796Mental retardation, autosomal dominant 52.1
HP:0003593HP:0003593Infantile onset0ASNS CL E G H440753OMIM:615574Asparagine synthetase deficiency17
HP:0003593HP:0003593Infantile onset0ASPA CL E G H443756OMIM:271900Canavan disease48
HP:0003593HP:0003593Infantile onset0ASS1 CL E G H445758OMIM:215700Citrullinemia, classic119
HP:0003593HP:0003593Infantile onset0ATAD3A CL E G H5521025567OMIM:617183Harel-Yoon syndrome.5
HP:0003593HP:0003593Infantile onset0ATG5 CL E G H9474589OMIM:617584Spinocerebellar ataxia, autosomal recessive 251
HP:0003593HP:0003593Infantile onset0ATG7 CL E G H1053316935OMIM:619422SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR311
HP:0003593HP:0003593Infantile onset0ATP13A3 CL E G H7957224113OMIM:265400Pulmonary hypertension, primary, autosomal recessive
HP:0003593HP:0003593Infantile onset0ATP1A1 CL E G H476799OMIM:618314Hypomagnesemia, seizures, and mental retardation 24
HP:0003593HP:0003593Infantile onset0ATP1A2 CL E G H477800OMIM:619605DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98239
HP:0003593HP:0003593Infantile onset0ATP1A3 CL E G H478801OMIM:601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss150
HP:0003593HP:0003593Infantile onset0ATP1A3 CL E G H478801OMIM:619606DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99150
HP:0003593HP:0003593Infantile onset0ATP2B1 CL E G H490814OMIM:619910
HP:0003593HP:0003593Infantile onset0ATP6AP1 CL E G H537868OMIM:300972IMMUNODEFICIENCY 47; IMD475
HP:0003593HP:0003593Infantile onset0ATP6AP2 CL E G H1015918305OMIM:301045CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R36
HP:0003593HP:0003593Infantile onset0ATP6AP2 CL E G H1015918305OMIM:300423MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH36
HP:0003593HP:0003593Infantile onset0ATP6V0A1 CL E G H535865OMIM:6199711
HP:0003593HP:0003593Infantile onset0ATP6V0A1 CL E G H535865OMIM:6199701
HP:0003593HP:0003593Infantile onset0ATP6V0A4 CL E G H50617866OMIM:602722RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR64
HP:0003593HP:0003593Infantile onset0ATP6V1B2 CL E G H526854OMIM:616455Zimmermann-Laband syndrome 25
HP:0003593HP:0003593Infantile onset0ATP7A CL E G H538869OMIM:309400Menkes disease192
HP:0003593HP:0003593Infantile onset0ATP8B1 CL E G H52053706OMIM:211600Cholestasis, progressive familial intrahepatic 1144
HP:0003593HP:0003593Infantile onset0ATR CL E G H545882OMIM:614564Cutaneous telangiectasia and cancer syndrome, familial168
HP:0003593HP:0003593Infantile onset0AUH CL E G H549890OMIM:2509503-methylglutaconic aciduria, type I49
HP:0003593HP:0003593Infantile onset0AUTS2 CL E G H2605314262OMIM:615834Mental retardation, autosomal dominant 2661
HP:0003593HP:0003593Infantile onset0B3GALNT2 CL E G H14878928596OMIM:615181MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1143
HP:0003593HP:0003593Infantile onset0BAAT CL E G H570932OMIM:619232BILE ACID CONJUGATION DEFECT 1; BACD163
HP:0003593HP:0003593Infantile onset0BCAS3 CL E G H5482814347OMIM:619641HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS2
HP:0003593HP:0003593Infantile onset0BCL10 CL E G H8915989OMIM:616098IMMUNODEFICIENCY 37; IMD3718
HP:0003593HP:0003593Infantile onset0BCORL1 CL E G H6303525657OMIM:301029Shukla-Vernon syndrome.17
HP:0003593HP:0003593Infantile onset0BCS1L CL E G H6171020OMIM:262000Bjornstad syndrome72
HP:0003593HP:0003593Infantile onset0BICD2 CL E G H2329917208OMIM:615290Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant46
HP:0003593HP:0003593Infantile onset0BLM CL E G H6411058OMIM:210900Bloom syndrome314
HP:0003593HP:0003593Infantile onset0BLNK CL E G H2976014211OMIM:613502Agammaglobulinemia 4, autosomal recessive.4
HP:0003593HP:0003593Infantile onset0BOLA3 CL E G H38896224415OMIM:614299Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia.14
HP:0003593HP:0003593Infantile onset0BRAT1 CL E G H22192721701OMIM:618056Neurodevelopmental disorder with cerebellar atrophy and with or without seizures.20
HP:0003593HP:0003593Infantile onset0BRAT1 CL E G H22192721701OMIM:614498Rigidity and multifocal seizure syndrome, lethal neonatal20
HP:0003593HP:0003593Infantile onset0BRF1 CL E G H297211551OMIM:616202Cerebellofaciodental syndrome.7
HP:0003593HP:0003593Infantile onset0BRWD3 CL E G H25406517342OMIM:300659MENTAL RETARDATION, X-LINKED 93; MRX93104
HP:0003593HP:0003593Infantile onset0BTD CL E G H6861122OMIM:253260Biotinidase deficiencymultiple carboxylase deficiency, late-onset223
HP:0003593HP:0003593Infantile onset0BTK CL E G H6951133OMIM:300755Agammaglobulinemia, X-linked109
HP:0003593HP:0003593Infantile onset0C12ORF57 CL E G H11324629521OMIM:218340Temtamy syndrome.13
HP:0003593HP:0003593Infantile onset0C2ORF69 CL E G H20532726799OMIM:619423COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53
HP:0003593HP:0003593Infantile onset0C3 CL E G H7181318OMIM:613779Complement component 3 deficiency, autosomal recessive92
HP:0003593HP:0003593Infantile onset0C3 CL E G H7181318OMIM:612925Hemolytic uremic syndrome, atypical, susceptibility to, 592
HP:0003593HP:0003593Infantile onset0C4B CL E G H7211324OMIM:614379Complement component 4B deficiency1
HP:0003593HP:0003593Infantile onset0CA12 CL E G H7711371OMIM:143860Hyperchlorhidrosis, isolated.4
HP:0003593HP:0003593Infantile onset0CACNA1C CL E G H7751390OMIM:620029572
HP:0003593HP:0003593Infantile onset0CACNA1H CL E G H89121395OMIM:617027Hyperaldosteronism, familial, type IV75
HP:0003593HP:0003593Infantile onset0CACNA1S CL E G H7791397OMIM:170400Hypokalemic periodic paralysis, type 1247
HP:0003593HP:0003593Infantile onset0CACNA2D2 CL E G H92541400OMIM:618501Cerebellar atrophy with seizures and variable developmental delay.48
HP:0003593HP:0003593Infantile onset0CAD CL E G H7901424OMIM:616457Epileptic encephalopathy, early infantile, 50.10
HP:0003593HP:0003593Infantile onset0CADM3 CL E G H5786317601OMIM:619519CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF1
HP:0003593HP:0003593Infantile onset0CALM1 CL E G H8011442OMIM:616247Long QT syndrome 1418
HP:0003593HP:0003593Infantile onset0CAMK2A CL E G H8151460OMIM:617798Mental retardation, autosomal dominant 531
HP:0003593HP:0003593Infantile onset0CAMK2A CL E G H8151460OMIM:618095Mental retardation, autosomal recessive 631
HP:0003593HP:0003593Infantile onset0CAMK2B CL E G H8161461OMIM:617799Mental retardation, autosomal dominant 54
HP:0003593HP:0003593Infantile onset0CAMK2G CL E G H8181463OMIM:618522Intellectual developmental disorder 591
HP:0003593HP:0003593Infantile onset0CAMTA1 CL E G H2326118806OMIM:614756Cerebellar ataxia, nonprogressive, with mental retardation34
HP:0003593HP:0003593Infantile onset0CARD11 CL E G H8443316393OMIM:615206Card11 immunodeficiency.45
HP:0003593HP:0003593Infantile onset0CARD14 CL E G H7909216446OMIM:173200Pityriasis rubra pilaris33
HP:0003593HP:0003593Infantile onset0CARMIL2 CL E G H14620627089OMIM:618131IMMUNODEFICIENCY 58; IMD583
HP:0003593HP:0003593Infantile onset0CARS2 CL E G H7958725695OMIM:616672Combined oxidative phosphorylation deficiency 2735
HP:0003593HP:0003593Infantile onset0CASK CL E G H85731497OMIM:300908Anemia, nonspherocytic hemolytic, due to g6pd deficiency118
HP:0003593HP:0003593Infantile onset0CAV1 CL E G H8571527OMIM:612526Lipodystrophy, congenital generalized, type 3.11
HP:0003593HP:0003593Infantile onset0CAVIN1 CL E G H2841199688OMIM:613327Lipodystrophy, congenital generalized, type 4.48
HP:0003593HP:0003593Infantile onset0CCDC115 CL E G H8431728178OMIM:616828Congenital disorder of glycosylation, type IIO.3
HP:0003593HP:0003593Infantile onset0CCDC39 CL E G H33982925244OMIM:613807Ciliary dyskinesia, primary, 14126
HP:0003593HP:0003593Infantile onset0CCDC65 CL E G H8547829937OMIM:615504Ciliary dyskinesia, primary, 2723
HP:0003593HP:0003593Infantile onset0CD164 CL E G H87631632OMIM:616969DEAFNESS, AUTOSOMAL DOMINANT 66; DFNA661
HP:0003593HP:0003593Infantile onset0CD19 CL E G H9301633OMIM:613493IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID338
HP:0003593HP:0003593Infantile onset0CD247 CL E G H9191677OMIM:610163IMMUNODEFICIENCY 25; IMD258
HP:0003593HP:0003593Infantile onset0CD320 CL E G H5129316692OMIM:613646METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT16
HP:0003593HP:0003593Infantile onset0CD3D CL E G H9151673OMIM:615617Immunodeficiency 19.18
HP:0003593HP:0003593Infantile onset0CD3E CL E G H9161674OMIM:615615Immunodeficiency 18.24
HP:0003593HP:0003593Infantile onset0CD3G CL E G H9171675OMIM:615607Immunodeficiency 1719
HP:0003593HP:0003593Infantile onset0CD40LG CL E G H95911935OMIM:308230Immunodeficiency, X-linked, with hyper-IgM33
HP:0003593HP:0003593Infantile onset0CD59 CL E G H9661689OMIM:612300Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy.3
HP:0003593HP:0003593Infantile onset0CD79B CL E G H9741699OMIM:612692Agammaglobulinemia 6, autosomal recessive.6
HP:0003593HP:0003593Infantile onset0CDKL5 CL E G H679211411OMIM:300672Developmental and epileptic encephalopathy 2405
HP:0003593HP:0003593Infantile onset0CELF2 CL E G H106592550OMIM:619561DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97; DEE97
HP:0003593HP:0003593Infantile onset0CEP104 CL E G H973124866OMIM:6199885
HP:0003593HP:0003593Infantile onset0CEP104 CL E G H973124866OMIM:616781Joubert syndrome 25.5
HP:0003593HP:0003593Infantile onset0CERS1 CL E G H1071514253OMIM:616230Epilepsy, progressive myoclonic, 81
HP:0003593HP:0003593Infantile onset0CFAP410 CL E G H7551260OMIM:602271Spondylometaphyseal dysplasia, axial
HP:0003593HP:0003593Infantile onset0CFI CL E G H34265394OMIM:610984Complement factor I deficiency57
HP:0003593HP:0003593Infantile onset0CFTR CL E G H10801884OMIM:219700Cystic fibrosis1371
HP:0003593HP:0003593Infantile onset0CHAMP1 CL E G H28348920311OMIM:616579Mental retardation, autosomal dominant 4016
HP:0003593HP:0003593Infantile onset0CHD1 CL E G H11051915OMIM:617682Pilarowski-Bjornsson syndrome.2
HP:0003593HP:0003593Infantile onset0CHD2 CL E G H11061917OMIM:615369EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET; EEOC227
HP:0003593HP:0003593Infantile onset0CHD3 CL E G H11071918OMIM:618205Snijders blok-campeau syndrome.2
HP:0003593HP:0003593Infantile onset0CHD5 CL E G H2603816816OMIM:619873
HP:0003593HP:0003593Infantile onset0CHD8 CL E G H5768020153OMIM:615032AUTISM, SUSCEPTIBILITY TO, 18; AUTS1872
HP:0003593HP:0003593Infantile onset0CHKA CL E G H11191937OMIM:620023
HP:0003593HP:0003593Infantile onset0CHMP1A CL E G H51198740OMIM:614961Pontocerebellar hypoplasia, type 819
HP:0003593HP:0003593Infantile onset0CHRNA1 CL E G H11341955OMIM:601462Myasthenic syndrome, congenital, 1A, slow-channel74
HP:0003593HP:0003593Infantile onset0CHRNA1 CL E G H11341955OMIM:608930Myasthenic syndrome, congenital, 1B, fast-channel.74
HP:0003593HP:0003593Infantile onset0CHRND CL E G H11441965OMIM:616321Myasthenic syndrome, congenital, 3A, slow-channel.88
HP:0003593HP:0003593Infantile onset0CHRND CL E G H11441965OMIM:616322Myasthenic syndrome, congenital, 3B, fast-channel.88
HP:0003593HP:0003593Infantile onset0CHRNE CL E G H11451966OMIM:616324Myasthenic syndrome, congenital, 4B, fast-channel.139
HP:0003593HP:0003593Infantile onset0CHRNE CL E G H11451966OMIM:608931Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency.139
HP:0003593HP:0003593Infantile onset0CIC CL E G H2315214214OMIM:617600Mental retardation, autosomal dominant 4539
HP:0003593HP:0003593Infantile onset0CLCN3 CL E G H11822021OMIM:619517NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA2
HP:0003593HP:0003593Infantile onset0CLCN4 CL E G H11832022OMIM:300114Raynaud-Claes syndrome45
HP:0003593HP:0003593Infantile onset0CLCN7 CL E G H11862025OMIM:611490Osteopetrosis, autosomal recessive 4102
HP:0003593HP:0003593Infantile onset0CLDN11 CL E G H50108514OMIM:619328Leukodystrophy, hypomyelinating, 22
HP:0003593HP:0003593Infantile onset0CLMP CL E G H7982724039OMIM:615237Congenital short bowel syndrome7
HP:0003593HP:0003593Infantile onset0CLPB CL E G H8157030664OMIM:6162713-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia38
HP:0003593HP:0003593Infantile onset0CLPB CL E G H8157030664OMIM:6198353-METHYLGLUTACONIC ACIDURIA, TYPE VIIA; MGCA7A38
HP:0003593HP:0003593Infantile onset0CLPB CL E G H8157030664OMIM:619813NEUTROPENIA, SEVERE CONGENITAL, 9, AUTOSOMAL DOMINANT; SCN938
HP:0003593HP:0003593Infantile onset0CLPX CL E G H108452088OMIM:618015Protoporphyria, erythropoietic, 2.
HP:0003593HP:0003593Infantile onset0CLTC CL E G H12132092OMIM:617854Mental retardation, autosomal dominant 561
HP:0003593HP:0003593Infantile onset0CNNM4 CL E G H26504105OMIM:217080Jalili syndrome61
HP:0003593HP:0003593Infantile onset0CNOT3 CL E G H48497879OMIM:618672INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0003593HP:0003593Infantile onset0CNPY3 CL E G H1069511968OMIM:617929Epileptic encephalopathy, early infantile, 60
HP:0003593HP:0003593Infantile onset0COG2 CL E G H227966546OMIM:617395Congenital disorder of glycosylation, type IIq.2
HP:0003593HP:0003593Infantile onset0COL12A1 CL E G H13032188OMIM:616470ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD265
HP:0003593HP:0003593Infantile onset0COL4A1 CL E G H12822202OMIM:175780Brain small vessel disease 1 with or without ocular anomalies193
HP:0003593HP:0003593Infantile onset0COL6A1 CL E G H12912211OMIM:254090Ullrich congenital muscular dystrophy 1.442
HP:0003593HP:0003593Infantile onset0COL6A2 CL E G H12922212OMIM:254090Ullrich congenital muscular dystrophy 1.478
HP:0003593HP:0003593Infantile onset0COL6A3 CL E G H12932213OMIM:254090Ullrich congenital muscular dystrophy 1.702
HP:0003593HP:0003593Infantile onset0COL7A1 CL E G H12942214OMIM:226600Epidermolysis bullosa dystrophica, autosomal recessive263
HP:0003593HP:0003593Infantile onset0COLQ CL E G H82922226OMIM:603034Myasthenic syndrome, congenital, 5.90
HP:0003593HP:0003593Infantile onset0COPB1 CL E G H13152231OMIM:619255BARALLE-MACKEN SYNDROME; BARMACS
HP:0003593HP:0003593Infantile onset0COPB2 CL E G H92762232OMIM:619884
HP:0003593HP:0003593Infantile onset0COQ2 CL E G H2723525223OMIM:607426Coenzyme Q10 deficiency, primary, 154
HP:0003593HP:0003593Infantile onset0COQ6 CL E G H5100420233OMIM:614650Coenzyme Q10 deficiency, primary, 6.39
HP:0003593HP:0003593Infantile onset0CORO1A CL E G H111512252OMIM:615401Immunodeficiency 8.7
HP:0003593HP:0003593Infantile onset0COX10 CL E G H13522260OMIM:619046MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN382
HP:0003593HP:0003593Infantile onset0COX4I2 CL E G H8470116232OMIM:612714Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis.13
HP:0003593HP:0003593Infantile onset0COX5A CL E G H93772267OMIM:619064MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0003593HP:0003593Infantile onset0COX6A2 CL E G H13392279OMIM:619062MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18; MC4DN18
HP:0003593HP:0003593Infantile onset0CPLANE1 CL E G H6525025801OMIM:614615Joubert syndrome 17
HP:0003593HP:0003593Infantile onset0CPLX1 CL E G H108152309OMIM:617976Epileptic encephalopathy, early infantile, 63.1
HP:0003593HP:0003593Infantile onset0CPSF3 CL E G H516922326OMIM:619876
HP:0003593HP:0003593Infantile onset0CPT2 CL E G H13762330OMIM:600649Carnitine palmitoyltransferase II deficiency, infantile.101
HP:0003593HP:0003593Infantile onset0CRB1 CL E G H234182343OMIM:613835Leber congenital amaurosis 8156
HP:0003593HP:0003593Infantile onset0CRB2 CL E G H28620418688OMIM:616220Focal segmental glomerulosclerosis 912
HP:0003593HP:0003593Infantile onset0CRBN CL E G H5118530185OMIM:607417Mental retardation, autosomal recessive 219
HP:0003593HP:0003593Infantile onset0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0003593HP:0003593Infantile onset0CRX CL E G H14062383OMIM:613829Leber congenital amaurosis 7158
HP:0003593HP:0003593Infantile onset0CTC1 CL E G H8016926169OMIM:612199Cerebroretinal microangiopathy with calcifications and cysts.160
HP:0003593HP:0003593Infantile onset0CTDP1 CL E G H91502498OMIM:604168Congenital cataracts, facial dysmorphism, and neuropathy.17
HP:0003593HP:0003593Infantile onset0CTNNB1 CL E G H14992514OMIM:615075Neurodevelopmental disorder with spastic diplegia and visual defects.88
HP:0003593HP:0003593Infantile onset0CTNS CL E G H14972518OMIM:219800Cystinosis, nephropathic178
HP:0003593HP:0003593Infantile onset0CUL3 CL E G H84522553OMIM:619239NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS92
HP:0003593HP:0003593Infantile onset0CUX2 CL E G H2331619347OMIM:618141Epileptic encephalopathy, early infantile, 67.
HP:0003593HP:0003593Infantile onset0CWF19L1 CL E G H5528025613OMIM:616127Spinocerebellar ataxia, autosomal recessive 17.9
HP:0003593HP:0003593Infantile onset0CXCR4 CL E G H78522561OMIM:193670Whim syndrome.9
HP:0003593HP:0003593Infantile onset0CYB561 CL E G H15342571OMIM:618182Orthostatic hypotension 2
HP:0003593HP:0003593Infantile onset0CYB5A CL E G H15282570OMIM:250790Methemoglobinemia and ambiguous genitalia.2
HP:0003593HP:0003593Infantile onset0CYC1 CL E G H15372579OMIM:615453Mitochondrial complex III deficiency, nuclear type 612
HP:0003593HP:0003593Infantile onset0CYP1B1 CL E G H15452597OMIM:231300Glaucoma 3, primary congenital, A101
HP:0003593HP:0003593Infantile onset0CYP2R1 CL E G H12022720580OMIM:600081Vitamin D hydroxylation-deficient rickets, type 1B.5
HP:0003593HP:0003593Infantile onset0CYP2U1 CL E G H11361220582OMIM:615030Spastic paraplegia 56, autosomal recessive18
HP:0003593HP:0003593Infantile onset0D2HGDH CL E G H72829428358OMIM:600721D-2-Hydroxyglutaric aciduria 1102
HP:0003593HP:0003593Infantile onset0DAG1 CL E G H16052666OMIM:616538MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9.108
HP:0003593HP:0003593Infantile onset0DARS1 CL E G H16152678OMIM:615281HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0003593HP:0003593Infantile onset0DBR1 CL E G H5116315594OMIM:619441ENCEPHALITIS, ACUTE, INFECTION (VIRAL)-INDUCED, SUSCEPTIBILITY TO, 11; IIAE11
HP:0003593HP:0003593Infantile onset0DCC CL E G H16302701OMIM:617542GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2; HGPPS236
HP:0003593HP:0003593Infantile onset0DCDC2 CL E G H5147318141OMIM:617394Sclerosing cholangitis, neonatal.8
HP:0003593HP:0003593Infantile onset0DCLRE1C CL E G H6442117642OMIM:602450Severe combined immunodeficiency with sensitivity to ionizing radiation94
HP:0003593HP:0003593Infantile onset0DCX CL E G H16412714OMIM:300067Lissencephaly, X-linked, 1.145
HP:0003593HP:0003593Infantile onset0DDB1 CL E G H16422717OMIM:619426WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0003593HP:0003593Infantile onset0DDC CL E G H16442719OMIM:608643Aromatic L-amino acid decarboxylase deficiency.43
HP:0003593HP:0003593Infantile onset0DDHD1 CL E G H8082119714OMIM:609340Spastic paraplegia 28, autosomal recessive35
HP:0003593HP:0003593Infantile onset0DDOST CL E G H16502728OMIM:614507Congenital disorder of glycosylation, type IR.62
HP:0003593HP:0003593Infantile onset0DDX3X CL E G H16542745OMIM:300958MENTAL RETARDATION, X-LINKED 102; MRX10257
HP:0003593HP:0003593Infantile onset0DEAF1 CL E G H1052214677OMIM:617171Dyskinesia, seizures, and intellectual developmental disorder.33
HP:0003593HP:0003593Infantile onset0DEF6 CL E G H506192760OMIM:619573IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0003593HP:0003593Infantile onset0DGUOK CL E G H17162858OMIM:251880Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)57
HP:0003593HP:0003593Infantile onset0DHPS CL E G H17252869OMIM:618480Neurodevelopmental disorder with seizures and speech and walking impairment.
HP:0003593HP:0003593Infantile onset0DHX30 CL E G H2290716716OMIM:617804Neurodevelopmental disorder with severe motor impairment and absent language.4
HP:0003593HP:0003593Infantile onset0DIP2B CL E G H5760929284OMIM:136630Mental retardation, Fra12a type4
HP:0003593HP:0003593Infantile onset0DLAT CL E G H17372896OMIM:245348Pyruvate dehydrogenase E2 deficiency.82
HP:0003593HP:0003593Infantile onset0DLD CL E G H17382898OMIM:246900Dihydrolipoamide dehydrogenase deficiency89
HP:0003593HP:0003593Infantile onset0DLG4 CL E G H17422903OMIM:618793INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62; MRD622
HP:0003593HP:0003593Infantile onset0DNAAF4 CL E G H16158221493OMIM:615482Ciliary dyskinesia, primary, 25.27
HP:0003593HP:0003593Infantile onset0DNAAF5 CL E G H5491926013OMIM:614874Ciliary dyskinesia, primary, 18.62
HP:0003593HP:0003593Infantile onset0DNAH5 CL E G H17672950OMIM:608644CILIARY DYSKINESIA, PRIMARY, 3; CILD3527
HP:0003593HP:0003593Infantile onset0DNM2 CL E G H17852974OMIM:160150Myopathy, centronuclear, autosomal dominant167
HP:0003593HP:0003593Infantile onset0DOCK2 CL E G H17942988OMIM:616433Immunodeficiency 406
HP:0003593HP:0003593Infantile onset0DOCK3 CL E G H17952989OMIM:618292Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia3
HP:0003593HP:0003593Infantile onset0DOCK7 CL E G H8544019190OMIM:615859Epileptic encephalopathy, early infantile, 23.11
HP:0003593HP:0003593Infantile onset0DOCK8 CL E G H8170419191OMIM:243700Hyper-Ige recurrent infection syndrome, autosomal recessive.217
HP:0003593HP:0003593Infantile onset0DOLK CL E G H2284523406OMIM:610768Congenital disorder of glycosylation, type Im55
HP:0003593HP:0003593Infantile onset0DPAGT1 CL E G H17982995OMIM:614750Myasthenic syndrome, congenital, 13, with tubular aggregates38
HP:0003593HP:0003593Infantile onset0DPF2 CL E G H59779964OMIM:618027Coffin-Siris syndrome 7
HP:0003593HP:0003593Infantile onset0DPH2 CL E G H18023004OMIM:620062
HP:0003593HP:0003593Infantile onset0DPM1 CL E G H88133005OMIM:608799Congenital disorder of glycosylation, type IE.27
HP:0003593HP:0003593Infantile onset0DPYD CL E G H18063012OMIM:274270Dihydropyrimidine dehydrogenase deficiency144
HP:0003593HP:0003593Infantile onset0DRC1 CL E G H9274924245OMIM:615294CILIARY DYSKINESIA, PRIMARY, 21; CILD2144
HP:0003593HP:0003593Infantile onset0DSC3 CL E G H18253037OMIM:613102HYPOTRICHOSIS AND RECURRENT SKIN VESICLES2
HP:0003593HP:0003593Infantile onset0DST CL E G H6671090OMIM:615425Epidermolysis bullosa simplex, autosomal recessive 2108
HP:0003593HP:0003593Infantile onset0DTYMK CL E G H18413061OMIM:619847
HP:0003593HP:0003593Infantile onset0DUT CL E G H18543078OMIM:620044
HP:0003593HP:0003593Infantile onset0DYNC1H1 CL E G H17782961OMIM:614563Mental retardation, autosomal dominant 13427
HP:0003593HP:0003593Infantile onset0DYNC1I2 CL E G H17812964OMIM:618492Neurodevelopmental disorder with microcephaly and structural brain anomalies.1
HP:0003593HP:0003593Infantile onset0DYRK1A CL E G H18593091OMIM:614104Mental retardation, autosomal dominant 7134
HP:0003593HP:0003593Infantile onset0DZIP1L CL E G H19922126551OMIM:617610Polycystic kidney disease 54
HP:0003593HP:0003593Infantile onset0EARS2 CL E G H12445429419OMIM:614924Combined oxidative phosphorylation deficiency 12.80
HP:0003593HP:0003593Infantile onset0EBF3 CL E G H25373819087OMIM:617330HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS25
HP:0003593HP:0003593Infantile onset0ECM1 CL E G H18933153OMIM:247100Urbach-Wiethe disease14
HP:0003593HP:0003593Infantile onset0EDA CL E G H18963157OMIM:305100Ectodermal dysplasia 1, hypohidrotic, X-linked115
HP:0003593HP:0003593Infantile onset0EDC3 CL E G H8015326114OMIM:616460Mental retardation, autosomal recessive 50.1
HP:0003593HP:0003593Infantile onset0EDEM3 CL E G H8026716787OMIM:619493CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0003593HP:0003593Infantile onset0EEF1A2 CL E G H19173192OMIM:616409Epileptic encephalopathy, early infantile, 33.60
HP:0003593HP:0003593Infantile onset0EFL1 CL E G H7963125789OMIM:617941Shwachman-Diamond syndrome 21
HP:0003593HP:0003593Infantile onset0EGR2 CL E G H19593239OMIM:145900Hypertrophic neuropathy of dejerine-sottas.58
HP:0003593HP:0003593Infantile onset0EHHADH CL E G H19623247OMIM:615605Fanconi renotubular syndrome 32
HP:0003593HP:0003593Infantile onset0EIF2AK1 CL E G H2710224921OMIM:618878LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME; LEMSPAD
HP:0003593HP:0003593Infantile onset0EIF2AK2 CL E G H56109437OMIM:618877LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0003593HP:0003593Infantile onset0EIF2AK3 CL E G H94513255OMIM:226980Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus.65
HP:0003593HP:0003593Infantile onset0EIF3F CL E G H86653275OMIM:618295Intellectual developmental disorder, autosomal recessive 67
HP:0003593HP:0003593Infantile onset0ELANE CL E G H19913309OMIM:202700Neutropenia, severe congenital, 1, autosomal dominant79
HP:0003593HP:0003593Infantile onset0ELF4 CL E G H20003319OMIM:301074AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL21
HP:0003593HP:0003593Infantile onset0ELOVL1 CL E G H6483414418OMIM:618527Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0003593HP:0003593Infantile onset0ELP2 CL E G H5525018248OMIM:617270Mental retardation, autosomal recessive 586
HP:0003593HP:0003593Infantile onset0ENPP1 CL E G H51673356OMIM:615522Cole disease151
HP:0003593HP:0003593Infantile onset0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0003593HP:0003593Infantile onset0EP300 CL E G H20333373OMIM:613684Rubinstein-Taybi syndrome 2250
HP:0003593HP:0003593Infantile onset0EPG5 CL E G H5772429331OMIM:242840Vici syndrome40
HP:0003593HP:0003593Infantile onset0EPHB4 CL E G H20503395OMIM:618196Capillary malformation-arteriovenous malformation 23
HP:0003593HP:0003593Infantile onset0EPO CL E G H20563415OMIM:617911DIAMOND-BLACKFAN ANEMIA-LIKE; DBAL1
HP:0003593HP:0003593Infantile onset0EPRS1 CL E G H20583418OMIM:617951Leukodystrophy, hypomyelinating, 15
HP:0003593HP:0003593Infantile onset0ERBB2 CL E G H20643430OMIM:619465VISCERAL NEUROPATHY, FAMILIAL, 2, AUTOSOMAL RECESSIVE; VSCN277
HP:0003593HP:0003593Infantile onset0ERCC1 CL E G H20673433OMIM:610758Cerebrooculofacioskeletal syndrome 420
HP:0003593HP:0003593Infantile onset0ERCC2 CL E G H20683434OMIM:601675Trichothiodystrophy 1, photosensitive106
HP:0003593HP:0003593Infantile onset0ERCC5 CL E G H20733437OMIM:278780Xeroderma pigmentosum, complementation group G83
HP:0003593HP:0003593Infantile onset0ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B199
HP:0003593HP:0003593Infantile onset0ERCC6 CL E G H20743438OMIM:600630Uv-Sensitive syndrome 1.199
HP:0003593HP:0003593Infantile onset0ERCC8 CL E G H11613439OMIM:216400Cockayne syndrome A55
HP:0003593HP:0003593Infantile onset0ERCC8 CL E G H11613439OMIM:614621UV-sensitive syndrome 2.55
HP:0003593HP:0003593Infantile onset0ERF CL E G H20773444OMIM:600775Craniosynostosis 412
HP:0003593HP:0003593Infantile onset0ETHE1 CL E G H2347423287OMIM:602473Encephalopathy, ethylmalonic42
HP:0003593HP:0003593Infantile onset0EXOC2 CL E G H5577024968OMIM:619306NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH1
HP:0003593HP:0003593Infantile onset0EXOC7 CL E G H2326523214OMIM:619072NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY; NEDSEBA
HP:0003593HP:0003593Infantile onset0EXOSC5 CL E G H5691524662OMIM:619576CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0003593HP:0003593Infantile onset0EXOSC8 CL E G H1134017035OMIM:616081Pontocerebellar hypoplasia, type 1C4
HP:0003593HP:0003593Infantile onset0EXT2 CL E G H21323513OMIM:133701Exostoses, multiple, type II102
HP:0003593HP:0003593Infantile onset0EXT2 CL E G H21323513OMIM:616682Seizures, scoliosis, and macrocephaly/microcephaly syndrome.102
HP:0003593HP:0003593Infantile onset0FANCB CL E G H21873583OMIM:300514FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB58
HP:0003593HP:0003593Infantile onset0FANCL CL E G H5512020748OMIM:614083Fanconi anemia, complementation group L53
HP:0003593HP:0003593Infantile onset0FAR1 CL E G H8418826222OMIM:619338CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY; CSPSD7
HP:0003593HP:0003593Infantile onset0FARSB CL E G H1005617800OMIM:613658Rajab interstitial lung disease with brain calcifications.
HP:0003593HP:0003593Infantile onset0FBP2 CL E G H87893607OMIM:619864
HP:0003593HP:0003593Infantile onset0FBXL3 CL E G H2622413599OMIM:606220Intellectual developmental disorder with short stature, facial anomalies, and speech defects
HP:0003593HP:0003593Infantile onset0FCGR2A CL E G H22123616OMIM:219700Cystic fibrosis6
HP:0003593HP:0003593Infantile onset0FCGR3A CL E G H22143619OMIM:615707Immunodeficiency 204
HP:0003593HP:0003593Infantile onset0FCHO1 CL E G H2314929002OMIM:619164IMMUNODEFICIENCY 76; IMD76
HP:0003593HP:0003593Infantile onset0FERMT3 CL E G H8370623151OMIM:612840Leukocyte adhesion deficiency, type III.23
HP:0003593HP:0003593Infantile onset0FGA CL E G H22433661OMIM:202400Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included47
HP:0003593HP:0003593Infantile onset0FGB CL E G H22443662OMIM:202400Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included62
HP:0003593HP:0003593Infantile onset0FGF13 CL E G H22583670OMIM:301058DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE901
HP:0003593HP:0003593Infantile onset0FGG CL E G H22663694OMIM:202400Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included34
HP:0003593HP:0003593Infantile onset0FKTN CL E G H22183622OMIM:253800MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4.184
HP:0003593HP:0003593Infantile onset0FKTN CL E G H22183622OMIM:613152MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4.184
HP:0003593HP:0003593Infantile onset0FKTN CL E G H22183622OMIM:611588Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4.184
HP:0003593HP:0003593Infantile onset0FLNA CL E G H23163754OMIM:300048Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked.493
HP:0003593HP:0003593Infantile onset0FLT4 CL E G H23243767OMIM:602089Hemangioma, capillary infantile90
HP:0003593HP:0003593Infantile onset0FMN2 CL E G H5677614074OMIM:616193MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47; MRT4744
HP:0003593HP:0003593Infantile onset0FNIP1 CL E G H9645929418OMIM:619705IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD931
HP:0003593HP:0003593Infantile onset0FOCAD CL E G H5491423377OMIM:6199913
HP:0003593HP:0003593Infantile onset0FOXC1 CL E G H22963800OMIM:601631Anterior segment dysgenesis 363
HP:0003593HP:0003593Infantile onset0FOXP1 CL E G H270863823OMIM:613670Mental retardation with language impairment and with or without autistic features184
HP:0003593HP:0003593Infantile onset0FOXP3 CL E G H509436106OMIM:304790Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked32
HP:0003593HP:0003593Infantile onset0FRMD5 CL E G H8497828214OMIM:620094
HP:0003593HP:0003593Infantile onset0FRMD7 CL E G H901678079OMIM:310700Nystagmus 1, congenital, X-linked.38
HP:0003593HP:0003593Infantile onset0FRMPD4 CL E G H975829007OMIM:300983MENTAL RETARDATION, X-LINKED 104; MRX10432
HP:0003593HP:0003593Infantile onset0FRRS1L CL E G H237321362OMIM:616981Epileptic encephalopathy, early infantile, 374
HP:0003593HP:0003593Infantile onset0FTSJ1 CL E G H2414013254OMIM:309549Mental retardation, X-linked 913
HP:0003593HP:0003593Infantile onset0FUCA1 CL E G H25174006OMIM:230000FUCOSIDOSIS43
HP:0003593HP:0003593Infantile onset0FYCO1 CL E G H7944314673OMIM:610019Cataract, autosomal recessive congenital 2140
HP:0003593HP:0003593Infantile onset0FZD4 CL E G H83224042OMIM:133780Exudative vitreoretinopathy 1.109
HP:0003593HP:0003593Infantile onset0G6PC1 CL E G H25384056OMIM:232200Glycogen storage disease ia
HP:0003593HP:0003593Infantile onset0G6PD CL E G H25394057OMIM:300908Anemia, nonspherocytic hemolytic, due to g6pd deficiency101
HP:0003593HP:0003593Infantile onset0GABBR2 CL E G H95684507OMIM:617904Epileptic encephalopathy, early infantile, 595
HP:0003593HP:0003593Infantile onset0GABRA1 CL E G H25544075OMIM:615744Epileptic encephalopathy, early infantile, 19134
HP:0003593HP:0003593Infantile onset0GABRB1 CL E G H25604081OMIM:617153Epileptic encephalopathy, early infantile, 45.3
HP:0003593HP:0003593Infantile onset0GABRB3 CL E G H25624083OMIM:617113Epileptic encephalopathy, early infantile, 43.57
HP:0003593HP:0003593Infantile onset0GABRG2 CL E G H25664087OMIM:618396Epileptic encephalopathy, early infantile, 74.139
HP:0003593HP:0003593Infantile onset0GAD1 CL E G H25714092OMIM:619124DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE8944
HP:0003593HP:0003593Infantile onset0GALC CL E G H25814115OMIM:245200Krabbe disease160
HP:0003593HP:0003593Infantile onset0GALNS CL E G H25884122OMIM:253000Morquio syndrome A123
HP:0003593HP:0003593Infantile onset0GAMT CL E G H25934136OMIM:612736Cerebral creatine deficiency syndrome 291
HP:0003593HP:0003593Infantile onset0GAN CL E G H81394137OMIM:256850Giant axonal neuropathy 1, autosomal recessive121
HP:0003593HP:0003593Infantile onset0GARS1 CL E G H26174162OMIM:619042SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE; SMAJI
HP:0003593HP:0003593Infantile onset0GATA1 CL E G H26234170OMIM:300835Anemia, X-linked, with or without neutropenia and/or platelet abnormalities.29
HP:0003593HP:0003593Infantile onset0GATA1 CL E G H26234170OMIM:300367Thrombocytopenia, X-linked, with or without dyserythropoietic anemia.29
HP:0003593HP:0003593Infantile onset0GATAD2B CL E G H5745930778OMIM:615074Mental retardation, autosomal dominant 18.33
HP:0003593HP:0003593Infantile onset0GATM CL E G H26284175OMIM:612718Cerebral creatine deficiency syndrome 3.86
HP:0003593HP:0003593Infantile onset0GCDH CL E G H26394189OMIM:231670Glutaric acidemia I115
HP:0003593HP:0003593Infantile onset0GCH1 CL E G H26434193OMIM:233910Hyperphenylalaninemia, BH4-deficient, B.86
HP:0003593HP:0003593Infantile onset0GDAP1 CL E G H5433215968OMIM:607831Charcot-Marie-Tooth disease, axonal, type 2K.108
HP:0003593HP:0003593Infantile onset0GDAP1 CL E G H5433215968OMIM:214400Charcot-Marie-Tooth disease, type 4A.108
HP:0003593HP:0003593Infantile onset0GEMIN4 CL E G H5062815717OMIM:617913Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities.1
HP:0003593HP:0003593Infantile onset0GEMIN5 CL E G H2592920043OMIM:619333NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION; NEDCAM
HP:0003593HP:0003593Infantile onset0GFAP CL E G H26704235OMIM:203450Alexander disease.188
HP:0003593HP:0003593Infantile onset0GFI1B CL E G H83284238OMIM:187900Bleeding disorder, platelet-type, 17.3
HP:0003593HP:0003593Infantile onset0GFPT1 CL E G H26734241OMIM:608931Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency.128
HP:0003593HP:0003593Infantile onset0GGCX CL E G H26774247OMIM:277450VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1129
HP:0003593HP:0003593Infantile onset0GH1 CL E G H26884261OMIM:262400Growth hormone deficiency, isolated, type IA50
HP:0003593HP:0003593Infantile onset0GJB2 CL E G H27064284OMIM:602540Ichthyosis, hystrix-like, with deafness.199
HP:0003593HP:0003593Infantile onset0GJB3 CL E G H27074285OMIM:133200Erythrokeratodermia variabilis et progressiva 1.74
HP:0003593HP:0003593Infantile onset0GJC2 CL E G H5716517494OMIM:608804Leukodystrophy, hypomyelinating, 2.37
HP:0003593HP:0003593Infantile onset0GLB1 CL E G H27204298OMIM:230500GM1-gangliosidosis, type I120
HP:0003593HP:0003593Infantile onset0GLRA1 CL E G H27414326OMIM:149400Hyperekplexia 1.63
HP:0003593HP:0003593Infantile onset0GLS CL E G H27444331OMIM:618339Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development
HP:0003593HP:0003593Infantile onset0GLUD1 CL E G H27464335OMIM:606762Hyperinsulinemic hypoglycemia, familial, 656
HP:0003593HP:0003593Infantile onset0GMPPA CL E G H2992622923OMIM:615510Alacrima, achalasia, and mental retardation syndrome24
HP:0003593HP:0003593Infantile onset0GMPPB CL E G H2992522932OMIM:615351MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1434
HP:0003593HP:0003593Infantile onset0GNAS CL E G H27784392OMIM:166350Osseous heteroplasia, progressive.101
HP:0003593HP:0003593Infantile onset0GNAS CL E G H27784392OMIM:103580Pseudohypoparathyroidism, type IA101
HP:0003593HP:0003593Infantile onset0GNB1 CL E G H27824396OMIM:616973Mental retardation, autosomal dominant 42.12
HP:0003593HP:0003593Infantile onset0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0003593HP:0003593Infantile onset0GNB5 CL E G H106814401OMIM:617182Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia7
HP:0003593HP:0003593Infantile onset0GNE CL E G H1002023657OMIM:269921SIALURIA173
HP:0003593HP:0003593Infantile onset0GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta240
HP:0003593HP:0003593Infantile onset0GNS CL E G H27994422OMIM:252940Mucopolysaccharidosis, type IIID69
HP:0003593HP:0003593Infantile onset0GON7 CL E G H8452020356OMIM:619603GALLOWAY-MOWAT SYNDROME 9; GAMOS9
HP:0003593HP:0003593Infantile onset0GP6 CL E G H5120614388OMIM:614201Bleeding disorder, platelet-type, 11.24
HP:0003593HP:0003593Infantile onset0GPAA1 CL E G H87334446OMIM:617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15
HP:0003593HP:0003593Infantile onset0GPD1 CL E G H28194455OMIM:614480Hypertriglyceridemia, transient infantile.3
HP:0003593HP:0003593Infantile onset0GPHN CL E G H1024315465OMIM:149400Hyperekplexia 1.18
HP:0003593HP:0003593Infantile onset0GPR101 CL E G H8355014963OMIM:300942Chromosome Xq26.3 duplication syndrome5
HP:0003593HP:0003593Infantile onset0GPT2 CL E G H8470618062OMIM:616281Mental retardation, autosomal recessive 494
HP:0003593HP:0003593Infantile onset0GRIA1 CL E G H28904571OMIM:6199313
HP:0003593HP:0003593Infantile onset0GRIA1 CL E G H28904571OMIM:6199273
HP:0003593HP:0003593Infantile onset0GRIA3 CL E G H28924573OMIM:300699Mental retardation, X-linked 9430
HP:0003593HP:0003593Infantile onset0GRID2 CL E G H28954576OMIM:616204SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR1818
HP:0003593HP:0003593Infantile onset0GRIK2 CL E G H28984580OMIM:611092Mental retardation, autosomal recessive 6.32
HP:0003593HP:0003593Infantile onset0GRIN1 CL E G H29024584OMIM:614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant.108
HP:0003593HP:0003593Infantile onset0GRIN1 CL E G H29024584OMIM:617820Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive108
HP:0003593HP:0003593Infantile onset0GRIN2B CL E G H29044586OMIM:616139Epileptic encephalopathy, early infantile, 27274
HP:0003593HP:0003593Infantile onset0GRIN2D CL E G H29064588OMIM:617162Epileptic encephalopathy, early infantile, 46.2
HP:0003593HP:0003593Infantile onset0GRM1 CL E G H29114593OMIM:614831SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR138
HP:0003593HP:0003593Infantile onset0GTPBP2 CL E G H546764670OMIM:617988Jaberi-Elahi syndrome.
HP:0003593HP:0003593Infantile onset0GUCY2C CL E G H29844688OMIM:614616Diarrhea 612
HP:0003593HP:0003593Infantile onset0GUCY2D CL E G H30004689OMIM:204000Leber congenital amaurosis, type I124
HP:0003593HP:0003593Infantile onset0GUSB CL E G H29904696OMIM:253220Mucopolysaccharidosis, type VII54
HP:0003593HP:0003593Infantile onset0H3-3B CL E G H30214765OMIM:619721BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0003593HP:0003593Infantile onset0H4C5 CL E G H83674790OMIM:619950
HP:0003593HP:0003593Infantile onset0H4C9 CL E G H82944793OMIM:619951
HP:0003593HP:0003593Infantile onset0HADHA CL E G H30304801OMIM:609015Mitochondrial trifunctional protein deficiency99
HP:0003593HP:0003593Infantile onset0HADHB CL E G H30324803OMIM:609015Mitochondrial trifunctional protein deficiency60
HP:0003593HP:0003593Infantile onset0HAX1 CL E G H1045616915OMIM:610738NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN332
HP:0003593HP:0003593Infantile onset0HCFC1 CL E G H30544839OMIM:309541Methylmalonic acidemia and homocysteinemia, Cblx type.100
HP:0003593HP:0003593Infantile onset0HCN1 CL E G H3489804845OMIM:615871Epileptic encephalopathy, early infantile, 2454
HP:0003593HP:0003593Infantile onset0HCN2 CL E G H6104846OMIM:602477Febrile seizures, familial, 2.7
HP:0003593HP:0003593Infantile onset0HCN4 CL E G H1002116882OMIM:619521EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 18; EIG18185
HP:0003593HP:0003593Infantile onset0HCRT CL E G H30604847OMIM:161400Narcolepsy 11
HP:0003593HP:0003593Infantile onset0HDAC4 CL E G H975914063OMIM:619797NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF33
HP:0003593HP:0003593Infantile onset0HEPACAM CL E G H22029626361OMIM:604004Megalencephalic leukoencephalopathy with subcortical cysts 1.82
HP:0003593HP:0003593Infantile onset0HEPACAM CL E G H22029626361OMIM:613925Megalencephalic leukoencephalopathy with subcortical cysts 2A82
HP:0003593HP:0003593Infantile onset0HERC2 CL E G H89244868OMIM:615516Mental retardation, autosomal recessive 38.38
HP:0003593HP:0003593Infantile onset0HEXB CL E G H30744879OMIM:268800Sandhoff disease80
HP:0003593HP:0003593Infantile onset0HGD CL E G H30814892OMIM:203500Alkaptonuria77
HP:0003593HP:0003593Infantile onset0HIBCH CL E G H262754908OMIM:2506203-Hydroxyisobutyryl-Coa hydrolase deficiency.32
HP:0003593HP:0003593Infantile onset0HID1 CL E G H28398715736OMIM:619983
HP:0003593HP:0003593Infantile onset0HIKESHI CL E G H5150126938OMIM:616881Leukodystrophy, hypomyelinating, 13.3
HP:0003593HP:0003593Infantile onset0HIVEP2 CL E G H30974921OMIM:616977Mental retardation, autosomal dominant 43.13
HP:0003593HP:0003593Infantile onset0HNF1A CL E G H692711621OMIM:600496Maturity-onset diabetes of the young, type III.161
HP:0003593HP:0003593Infantile onset0HNMT CL E G H31765028OMIM:616739Mental retardation, autosomal recessive 51.3
HP:0003593HP:0003593Infantile onset0HNRNPH2 CL E G H31885042OMIM:300986MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB3
HP:0003593HP:0003593Infantile onset0HNRNPU CL E G H31925048OMIM:617391Epileptic encephalopathy, early infantile, 54.39
HP:0003593HP:0003593Infantile onset0HPDL CL E G H8484228242OMIM:619026NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0003593HP:0003593Infantile onset0HPRT1 CL E G H32515157OMIM:300322Lesch-Nyhan syndrome76
HP:0003593HP:0003593Infantile onset0HPS5 CL E G H1123417022OMIM:614074Hermansky-Pudlak syndrome 5105
HP:0003593HP:0003593Infantile onset0HSD17B10 CL E G H30284800OMIM:300438HSD10 mitochondrial disease.19
HP:0003593HP:0003593Infantile onset0HSPG2 CL E G H33395273OMIM:255800Schwartz-jampel syndrome, type 1345
HP:0003593HP:0003593Infantile onset0HUWE1 CL E G H1007530892OMIM:309590Mental retardation, x-linked syndromic, Turner type.98
HP:0003593HP:0003593Infantile onset0HYDIN CL E G H5476819368OMIM:608647Ciliary dyskinesia, primary, 5.21
HP:0003593HP:0003593Infantile onset0IARS2 CL E G H5569929685OMIM:616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia25
HP:0003593HP:0003593Infantile onset0IDH3A CL E G H34195384OMIM:619007RETINITIS PIGMENTOSA 90; RP90
HP:0003593HP:0003593Infantile onset0IDS CL E G H34235389OMIM:309900Mucopolysaccharidosis, type II86
HP:0003593HP:0003593Infantile onset0IFIH1 CL E G H6413518873OMIM:615846Aicardi-Goutieres syndrome 728
HP:0003593HP:0003593Infantile onset0IFIH1 CL E G H6413518873OMIM:619773IMMUNODEFICIENCY 95; IMD9528
HP:0003593HP:0003593Infantile onset0IFIH1 CL E G H6413518873OMIM:182250Singleton-Merten syndrome 128
HP:0003593HP:0003593Infantile onset0IFITM5 CL E G H38773316644OMIM:610967Osteogenesis imperfecta, type V8
HP:0003593HP:0003593Infantile onset0IFNAR1 CL E G H34545432OMIM:619935
HP:0003593HP:0003593Infantile onset0IFNG CL E G H34585438OMIM:613254Tuberous sclerosis-223
HP:0003593HP:0003593Infantile onset0IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly.148
HP:0003593HP:0003593Infantile onset0IGHM CL E G H35075541OMIM:601495Agammaglobulinemia 1, autosomal recessive.7
HP:0003593HP:0003593Infantile onset0IGLL1 CL E G H35435870OMIM:613500Agammaglobulinemia 2, autosomal recessive.3
HP:0003593HP:0003593Infantile onset0IKBKB CL E G H35515960OMIM:615592Immunodeficiency 15.4
HP:0003593HP:0003593Infantile onset0IKBKG CL E G H85175961OMIM:30108152
HP:0003593HP:0003593Infantile onset0IKBKG CL E G H85175961OMIM:300636Immunodeficiency 3352
HP:0003593HP:0003593Infantile onset0IL10RB CL E G H35885965OMIM:612567INFLAMMATORY BOWEL DISEASE 25, AUTOSOMAL RECESSIVE; IBD2529
HP:0003593HP:0003593Infantile onset0IL12B CL E G H35935970OMIM:614890Immunodeficiency 2931
HP:0003593HP:0003593Infantile onset0IL17RC CL E G H8481818358OMIM:616445Candidiasis, familial, 94
HP:0003593HP:0003593Infantile onset0IL21 CL E G H590676005OMIM:615767IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID113
HP:0003593HP:0003593Infantile onset0IL2RB CL E G H35606009OMIM:618495Immunodeficiency 63 with lymphoproliferation and autoimmunity
HP:0003593HP:0003593Infantile onset0IL2RG CL E G H35616010OMIM:300400Severe combined immunodeficiency, X-linked48
HP:0003593HP:0003593Infantile onset0IL36RN CL E G H2652515561OMIM:614204PSORIASIS 14, PUSTULAR; PSORS1451
HP:0003593HP:0003593Infantile onset0IL37 CL E G H2717815563OMIM:619398INFLAMMATORY BOWEL DISEASE (INFANTILE ULCERATIVE COLITIS) 31, AUTOSOMAL RECESSIVE; IBD31
HP:0003593HP:0003593Infantile onset0IL6R CL E G H35706019OMIM:618944HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES51
HP:0003593HP:0003593Infantile onset0IL6ST CL E G H35726021OMIM:619752HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0003593HP:0003593Infantile onset0IL6ST CL E G H35726021OMIM:619750IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0003593HP:0003593Infantile onset0IL7R CL E G H35756024OMIM:608971Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive94
HP:0003593HP:0003593Infantile onset0ILDR1 CL E G H28667628741OMIM:609646Deafness, neurosensory, autosomal recessive 42.42
HP:0003593HP:0003593Infantile onset0IMPDH1 CL E G H36146052OMIM:180105Retinitis pigmentosa 10.52
HP:0003593HP:0003593Infantile onset0INPP5K CL E G H5176333882OMIM:617404Muscular dystrophy, congenital, with cataracts and intellectual disability7
HP:0003593HP:0003593Infantile onset0IQSEC2 CL E G H2309629059OMIM:309530Mental retardation, X-linked 1119
HP:0003593HP:0003593Infantile onset0IREB2 CL E G H36586115OMIM:618451Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia.
HP:0003593HP:0003593Infantile onset0IRF2BPL CL E G H6420714282OMIM:618088Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
HP:0003593HP:0003593Infantile onset0IRF8 CL E G H33945358OMIM:226990Immunodeficiency 32B5
HP:0003593HP:0003593Infantile onset0ISCA1 CL E G H8168928660OMIM:617613Multiple mitochondrial dysfunctions syndrome 5.1
HP:0003593HP:0003593Infantile onset0ITGA3 CL E G H36756139OMIM:614748Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital6
HP:0003593HP:0003593Infantile onset0ITGA7 CL E G H36796143OMIM:613204Muscular dystrophy, congenital, due to integrin alpha-7 deficiency.127
HP:0003593HP:0003593Infantile onset0ITPA CL E G H37046176OMIM:616647Epileptic encephalopathy, early infantile, 358
HP:0003593HP:0003593Infantile onset0ITPR1 CL E G H37086180OMIM:206700Gillespie syndrome177
HP:0003593HP:0003593Infantile onset0ITPR1 CL E G H37086180OMIM:117360Spinocerebellar ataxia 29177
HP:0003593HP:0003593Infantile onset0JAG1 CL E G H1826188OMIM:118450Alagille syndrome 1.257
HP:0003593HP:0003593Infantile onset0JAG2 CL E G H37146189OMIM:619566MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR271
HP:0003593HP:0003593Infantile onset0JAGN1 CL E G H8452226926OMIM:616022Neutropenia, severe congenital, 6, autosomal recessive8
HP:0003593HP:0003593Infantile onset0JAK3 CL E G H37186193OMIM:600802Scid, autosomal recessive, T-Negative/b-Positive type140
HP:0003593HP:0003593Infantile onset0JPH1 CL E G H5670414201OMIM:607831Charcot-Marie-Tooth disease, axonal, type 2K.1
HP:0003593HP:0003593Infantile onset0KCNA2 CL E G H37376220OMIM:616366Epileptic encephalopathy, early infantile, 32.13
HP:0003593HP:0003593Infantile onset0KCNB1 CL E G H37456231OMIM:616056EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26; EIEE2665
HP:0003593HP:0003593Infantile onset0KCNC2 CL E G H37476234OMIM:619913
HP:0003593HP:0003593Infantile onset0KCNH1 CL E G H37566250OMIM:611816Temple-Baraitser syndrome.13
HP:0003593HP:0003593Infantile onset0KCNJ10 CL E G H37666256OMIM:612780Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance.121
HP:0003593HP:0003593Infantile onset0KCNMA1 CL E G H37786284OMIM:617643Cerebellar atrophy, developmental delay, and seizures.114
HP:0003593HP:0003593Infantile onset0KCNMA1 CL E G H37786284OMIM:618729LIANG-WANG SYNDROME; LIWAS114
HP:0003593HP:0003593Infantile onset0KCNN2 CL E G H37816291OMIM:619725NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0003593HP:0003593Infantile onset0KCNQ2 CL E G H37856296OMIM:613720Epileptic encephalopathy, early infantile, 7.528
HP:0003593HP:0003593Infantile onset0KCNQ5 CL E G H564796299OMIM:617601Mental retardation, autosomal dominant 465
HP:0003593HP:0003593Infantile onset0KCNT2 CL E G H34345018866OMIM:617771Epileptic encephalopathy, early infantile, 57.1
HP:0003593HP:0003593Infantile onset0KCTD7 CL E G H15488121957OMIM:611726Epilepsy, progressive myoclonic 3, with or without intracellular inclusions106
HP:0003593HP:0003593Infantile onset0KDELR2 CL E G H110146305OMIM:619131OSTEOGENESIS IMPERFECTA, TYPE XXI; OI21
HP:0003593HP:0003593Infantile onset0KDM4B CL E G H2303029136OMIM:619320INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0003593HP:0003593Infantile onset0KDM5B CL E G H1076518039OMIM:618109Mental retardation, autosomal recessive 65.2
HP:0003593HP:0003593Infantile onset0KDR CL E G H37916307OMIM:602089Hemangioma, capillary infantile40
HP:0003593HP:0003593Infantile onset0KIDINS220 CL E G H5749829508OMIM:617296SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO4
HP:0003593HP:0003593Infantile onset0KIF12 CL E G H11322021495OMIM:619662CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC81
HP:0003593HP:0003593Infantile onset0KIF1A CL E G H547888OMIM:201300Neuropathy, hereditary sensory and autonomic, type II.276
HP:0003593HP:0003593Infantile onset0KITLG CL E G H42546343OMIM:145250Hyperpigmentation, familial progressive9
HP:0003593HP:0003593Infantile onset0KLC2 CL E G H6483720716OMIM:609541Spastic paraplegia, optic atrophy, and neuropathy1
HP:0003593HP:0003593Infantile onset0KLHL7 CL E G H5597515646OMIM:617055Crisponi/cold-Induced sweating syndrome 3.42
HP:0003593HP:0003593Infantile onset0KMT2E CL E G H5590418541OMIM:618512O'donnell-Luria-Rodan syndrome.1
HP:0003593HP:0003593Infantile onset0KMT5B CL E G H5111124283OMIM:617788Mental retardation, autosomal dominant 512
HP:0003593HP:0003593Infantile onset0KRT14 CL E G H38616416OMIM:601001Epidermolysis bullosa simplex, autosomal recessive 1110
HP:0003593HP:0003593Infantile onset0KRT14 CL E G H38616416OMIM:131900Epidermolysis bullosa simplex, Koebner type110
HP:0003593HP:0003593Infantile onset0KRT5 CL E G H38526442OMIM:131960Epidermolysis bullosa simplex with mottled pigmentation173
HP:0003593HP:0003593Infantile onset0KRT81 CL E G H38876458OMIM:158000MONILETHRIX.3
HP:0003593HP:0003593Infantile onset0KRT83 CL E G H38896460OMIM:158000MONILETHRIX.65
HP:0003593HP:0003593Infantile onset0KRT86 CL E G H38926463OMIM:158000MONILETHRIX.10
HP:0003593HP:0003593Infantile onset0L2HGDH CL E G H7994420499OMIM:236792L-2-Hydroxyglutaric aciduria.34
HP:0003593HP:0003593Infantile onset0LARGE1 CL E G H92156511OMIM:608840MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6.136
HP:0003593HP:0003593Infantile onset0LCA5 CL E G H16769131923OMIM:604537Leber congenital amaurosis 5.70
HP:0003593HP:0003593Infantile onset0LCK CL E G H39326524OMIM:615758Immunodeficiency 22.1
HP:0003593HP:0003593Infantile onset0LEPR CL E G H39536554OMIM:614963Leptin receptor deficiency46
HP:0003593HP:0003593Infantile onset0LETM1 CL E G H39546556OMIM:6200892
HP:0003593HP:0003593Infantile onset0LGI3 CL E G H20319018711OMIM:620007
HP:0003593HP:0003593Infantile onset0LIG1 CL E G H39786598OMIM:619774IMMUNODEFICIENCY 96; IMD969
HP:0003593HP:0003593Infantile onset0LINGO1 CL E G H8489421205OMIM:618103Mental retardation, autosomal recessive 64
HP:0003593HP:0003593Infantile onset0LINS1 CL E G H5518030922OMIM:614340Mental retardation, autosomal recessive 2725
HP:0003593HP:0003593Infantile onset0LIPA CL E G H39886617OMIM:278000Lysosomal acid lipase deficiency73
HP:0003593HP:0003593Infantile onset0LIPT1 CL E G H5160129569OMIM:616299Lipoyltransferase 1 deficiency.21
HP:0003593HP:0003593Infantile onset0LMAN2L CL E G H8156219263OMIM:6178631
HP:0003593HP:0003593Infantile onset0LMAN2L CL E G H8156219263OMIM:616887Mental retardation, autosomal recessive 52.1
HP:0003593HP:0003593Infantile onset0LMBRD1 CL E G H5578823038OMIM:277380Methylmalonic aciduria and homocystinuria, Cblf type.46
HP:0003593HP:0003593Infantile onset0LMBRD2 CL E G H9225525287OMIM:619694DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0003593HP:0003593Infantile onset0LMNB1 CL E G H40016637OMIM:619179MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH2644
HP:0003593HP:0003593Infantile onset0LRIG2 CL E G H986020889OMIM:615112Urofacial syndrome 25
HP:0003593HP:0003593Infantile onset0LRP5 CL E G H40416697OMIM:133780Exudative vitreoretinopathy 1.125
HP:0003593HP:0003593Infantile onset0LRP5 CL E G H40416697OMIM:601813Exudative vitreoretinopathy 4.125
HP:0003593HP:0003593Infantile onset0LRPPRC CL E G H1012815714OMIM:220111Leigh syndrome, french Canadian type.191
HP:0003593HP:0003593Infantile onset0LRRK1 CL E G H7970518608OMIM:615198Osteosclerotic metaphyseal dysplasia1
HP:0003593HP:0003593Infantile onset0LTBP1 CL E G H40526714OMIM:619451CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0003593HP:0003593Infantile onset0LYRM7 CL E G H9062428072OMIM:615838Mitochondrial complex III deficiency, nuclear type 810
HP:0003593HP:0003593Infantile onset0LYSET CL E G H2617520218OMIM:619345DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE; DMAN
HP:0003593HP:0003593Infantile onset0LYST CL E G H11301968OMIM:214500Chediak-Higashi syndrome239
HP:0003593HP:0003593Infantile onset0MACF1 CL E G H2349913664OMIM:618325Lissencephaly 9 with complex brainstem malformation.2
HP:0003593HP:0003593Infantile onset0MAFB CL E G H99356408OMIM:166300Multicentric carpotarsal osteolysis syndrome63
HP:0003593HP:0003593Infantile onset0MAGEL2 CL E G H545516814OMIM:615547Schaaf-Yang syndrome.63
HP:0003593HP:0003593Infantile onset0MANBA CL E G H41266831OMIM:248510MANNOSIDOSIS, BETA A, LYSOSOMAL55
HP:0003593HP:0003593Infantile onset0MAP2K2 CL E G H56056842OMIM:615280Cardiofaciocutaneous syndrome 4178
HP:0003593HP:0003593Infantile onset0MAPK8IP3 CL E G H231626884OMIM:618443Neurodevelopmental disorder with or without variable brain abnormalities
HP:0003593HP:0003593Infantile onset0MARS1 CL E G H41416898OMIM:615486Interstitial lung and liver disease
HP:0003593HP:0003593Infantile onset0MARS1 CL E G H41416898OMIM:619692TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE; TTD9
HP:0003593HP:0003593Infantile onset0MAST1 CL E G H2298319034OMIM:618273Mega-Corpus-Callosum syndrome with cerebellar hypoplasia and cortical malformations.1
HP:0003593HP:0003593Infantile onset0MATN3 CL E G H41486909OMIM:608728Spondyloepimetaphyseal dysplasia, matrilin-3 related32
HP:0003593HP:0003593Infantile onset0MBD5 CL E G H5577720444OMIM:156200Mental retardation, autosomal dominant 1252
HP:0003593HP:0003593Infantile onset0MBOAT7 CL E G H7914315505OMIM:617188Mental retardation, autosomal recessive 575
HP:0003593HP:0003593Infantile onset0MCCC1 CL E G H569226936OMIM:2102003-Methylcrotonyl-CoA carboxylase 1 deficiency81
HP:0003593HP:0003593Infantile onset0MCCC2 CL E G H640876937OMIM:2102103-Methylcrotonyl-CoA carboxylase 2 deficiency77
HP:0003593HP:0003593Infantile onset0MCEE CL E G H8469316732OMIM:251120Methylmalonyl-Coa epimerase deficiency19
HP:0003593HP:0003593Infantile onset0MCOLN1 CL E G H5719213356OMIM:252650Mucolipidosis IV.78
HP:0003593HP:0003593Infantile onset0MDH2 CL E G H41916971OMIM:617339Epileptic encephalopathy, early infantile, 514
HP:0003593HP:0003593Infantile onset0MECP2 CL E G H42046990OMIM:300055Mental retardation, X-linked, syndromic 13950
HP:0003593HP:0003593Infantile onset0MED12 CL E G H996811957OMIM:309520Lujan-Fryns syndrome228
HP:0003593HP:0003593Infantile onset0MED13L CL E G H2338922962OMIM:616789Mental retardation and distinctive facial features with or without cardiac defects.74
HP:0003593HP:0003593Infantile onset0MEF2C CL E G H42086996OMIM:613443Mental retardation, autosomal dominant 20132
HP:0003593HP:0003593Infantile onset0MEFV CL E G H42106998OMIM:249100Familial Mediterranean fever, AR281
HP:0003593HP:0003593Infantile onset0METTL23 CL E G H12451226988OMIM:615942Mental retardation, autosomal recessive 44.13
HP:0003593HP:0003593Infantile onset0MFF CL E G H5694724858OMIM:617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2.17
HP:0003593HP:0003593Infantile onset0MFN2 CL E G H992716877OMIM:601152Hereditary motor and sensory neuropathy VI.203
HP:0003593HP:0003593Infantile onset0MIA3 CL E G H37505624008OMIM:619269ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0003593HP:0003593Infantile onset0MICOS13 CL E G H12598833702OMIM:618329COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0003593HP:0003593Infantile onset0MID2 CL E G H110437096OMIM:300928MENTAL RETARDATION, X-LINKED 101; MRX1017
HP:0003593HP:0003593Infantile onset0MIPEP CL E G H42857104OMIM:617228Combined oxidative phosphorylation deficiency 31.7
HP:0003593HP:0003593Infantile onset0MLC1 CL E G H2320917082OMIM:604004Megalencephalic leukoencephalopathy with subcortical cysts 1.112
HP:0003593HP:0003593Infantile onset0MLIP CL E G H9052321355OMIM:620138
HP:0003593HP:0003593Infantile onset0MMAA CL E G H16678518871OMIM:251100Methylmalonic aciduria, Cbla type.113
HP:0003593HP:0003593Infantile onset0MMACHC CL E G H2597424525OMIM:277400Methylmalonic aciduria and homocystinuria, Cblc typeHP:0040282 - Frequent101
HP:0003593HP:0003593Infantile onset0MMADHC CL E G H2724925221OMIM:277410Methylmalonic aciduria and homocystinuria, Cbld type.50
HP:0003593HP:0003593Infantile onset0MMP1 CL E G H43127155OMIM:226600Epidermolysis bullosa dystrophica, autosomal recessive6
HP:0003593HP:0003593Infantile onset0MMP14 CL E G H43237160OMIM:277950Winchester syndrome2
HP:0003593HP:0003593Infantile onset0MMP2 CL E G H43137166OMIM:259600Multicentric osteolysis, nodulosis, and arthropathy64
HP:0003593HP:0003593Infantile onset0MMP9 CL E G H43187176OMIM:613073METAPHYSEAL ANADYSPLASIA 2; MANDP231
HP:0003593HP:0003593Infantile onset0MPDU1 CL E G H95267207OMIM:609180Congenital disorder of glycosylation, type IF32
HP:0003593HP:0003593Infantile onset0MPI CL E G H43517216OMIM:602579Congenital disorder of glycosylation, type Ib51
HP:0003593HP:0003593Infantile onset0MPV17 CL E G H43587224OMIM:256810Navajo neurohepatopathy.56
HP:0003593HP:0003593Infantile onset0MPZ CL E G H43597225OMIM:145900Hypertrophic neuropathy of dejerine-sottas.134
HP:0003593HP:0003593Infantile onset0MPZ CL E G H43597225OMIM:618184Neuropathy, congenital hypomyelinating, 2134
HP:0003593HP:0003593Infantile onset0MRPL3 CL E G H1122210379OMIM:614582COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD913
HP:0003593HP:0003593Infantile onset0MRPL44 CL E G H6508016650OMIM:615395Combined oxidative phosphorylation deficiency 16.13
HP:0003593HP:0003593Infantile onset0MRPS2 CL E G H5111614495OMIM:617950Combined oxidative phosphorylation deficiency 36.
HP:0003593HP:0003593Infantile onset0MRPS25 CL E G H6443214511OMIM:619025COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50
HP:0003593HP:0003593Infantile onset0MRPS34 CL E G H6599316618OMIM:617664Combined oxidative phosphorylation deficiency 321
HP:0003593HP:0003593Infantile onset0MRPS7 CL E G H5108114499OMIM:617872Combined oxidative phosphorylation deficiency 34.12
HP:0003593HP:0003593Infantile onset0MTFMT CL E G H12326329666OMIM:618248Mitochondrial complex I deficiency, nuclear type 27.29
HP:0003593HP:0003593Infantile onset0MTMR14 CL E G H6441926190OMIM:160150Myopathy, centronuclear, autosomal dominant7
HP:0003593HP:0003593Infantile onset0MTOR CL E G H24753942OMIM:607341Focal cortical dysplasia of taylor.68
HP:0003593HP:0003593Infantile onset0MTR CL E G H45487468OMIM:250940Homocystinuria-megaloblastic anemia, cblg Complementation type.217
HP:0003593HP:0003593Infantile onset0MTRR CL E G H45527473OMIM:236270Homocystinuria-megaloblastic anemia, cbl E type.88
HP:0003593HP:0003593Infantile onset0MTSS2 CL E G H9215425094OMIM:620086
HP:0003593HP:0003593Infantile onset0MTX2 CL E G H106517506OMIM:619127MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0003593HP:0003593Infantile onset0MUSK CL E G H45937525OMIM:616325Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency.72
HP:0003593HP:0003593Infantile onset0MVK CL E G H45987530OMIM:260920Hyper-Igd syndrome150
HP:0003593HP:0003593Infantile onset0MVK CL E G H45987530OMIM:610377Mevalonic aciduria150
HP:0003593HP:0003593Infantile onset0MYH7 CL E G H46257577OMIM:613426Cardiomyopathy, dilated, 1S1269
HP:0003593HP:0003593Infantile onset0MYH7 CL E G H46257577OMIM:160500Myopathy, distal, 1.1269
HP:0003593HP:0003593Infantile onset0MYMK CL E G H38982733778OMIM:254940Carey-Fineman-Ziter syndrome.5
HP:0003593HP:0003593Infantile onset0MYMX CL E G H10192972652391OMIM:619941
HP:0003593HP:0003593Infantile onset0MYO5A CL E G H46447602OMIM:214450Griscelli syndrome, type 1.35
HP:0003593HP:0003593Infantile onset0MYO5B CL E G H46457603OMIM:619868192
HP:0003593HP:0003593Infantile onset0MYO7A CL E G H46477606OMIM:276900Usher syndrome, type I516
HP:0003593HP:0003593Infantile onset0MYT1L CL E G H230407623OMIM:616521Mental retardation, autosomal dominant 3913
HP:0003593HP:0003593Infantile onset0NAA20 CL E G H5112615908OMIM:619717INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0003593HP:0003593Infantile onset0NACC1 CL E G H11293920967OMIM:617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination1
HP:0003593HP:0003593Infantile onset0NAGA CL E G H46687631OMIM:609241Schindler disease, type I.47
HP:0003593HP:0003593Infantile onset0NAPB CL E G H6390815751OMIM:6200332
HP:0003593HP:0003593Infantile onset0NARS1 CL E G H46777643OMIM:619091NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG
HP:0003593HP:0003593Infantile onset0NARS2 CL E G H7973126274OMIM:616239Combined oxidative phosphorylation deficiency 24.34
HP:0003593HP:0003593Infantile onset0NAXD CL E G H5573925576OMIM:618321Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0003593HP:0003593Infantile onset0NAXE CL E G H12824018453OMIM:617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 19
HP:0003593HP:0003593Infantile onset0NBAS CL E G H5159415625OMIM:616483INFANTILE LIVER FAILURE SYNDROME 2; ILFS225
HP:0003593HP:0003593Infantile onset0NBEA CL E G H269607648OMIM:619157NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY; NEDEGE3
HP:0003593HP:0003593Infantile onset0NCDN CL E G H2315417597OMIM:619373NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS; NEDIES
HP:0003593HP:0003593Infantile onset0NCKAP1L CL E G H30714862OMIM:618982IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0003593HP:0003593Infantile onset0NDP CL E G H46937678OMIM:305390Exudative vitreoretinopathy 2, X-linked39
HP:0003593HP:0003593Infantile onset0NDP CL E G H46937678OMIM:310600Norrie disease39
HP:0003593HP:0003593Infantile onset0NDST1 CL E G H33407680OMIM:616116Mental retardation, autosomal recessive 4627
HP:0003593HP:0003593Infantile onset0NDUFA10 CL E G H47057684OMIM:618243Mitochondrial complex I deficiency, nuclear type 22.91
HP:0003593HP:0003593Infantile onset0NDUFA12 CL E G H5596723987OMIM:618244Mitochondrial complex I deficiency, nuclear type 237
HP:0003593HP:0003593Infantile onset0NDUFA13 CL E G H5107917194OMIM:618249Mitochondrial complex I deficiency, nuclear type 28.3
HP:0003593HP:0003593Infantile onset0NDUFA6 CL E G H47007690OMIM:618253Mitochondrial complex I deficiency, nuclear type 331
HP:0003593HP:0003593Infantile onset0NDUFA8 CL E G H47027692OMIM:619272MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0003593HP:0003593Infantile onset0NDUFAF1 CL E G H5110318828OMIM:618234Mitochondrial complex I deficiency, nuclear type 11.40
HP:0003593HP:0003593Infantile onset0NDUFAF3 CL E G H2591529918OMIM:618240Mitochondrial complex I deficiency, nuclear type 1831
HP:0003593HP:0003593Infantile onset0NDUFAF6 CL E G H13768228625OMIM:618239Mitochondrial complex I deficiency, nuclear type 1739
HP:0003593HP:0003593Infantile onset0NDUFAF8 CL E G H28418433551OMIM:618776MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34; MC1DN34
HP:0003593HP:0003593Infantile onset0NDUFB8 CL E G H47147703OMIM:618252Mitochondrial complex I deficiency, nuclear type 32.
HP:0003593HP:0003593Infantile onset0NDUFB9 CL E G H47157704OMIM:618245Mitochondrial complex I deficiency, nuclear type 24.16
HP:0003593HP:0003593Infantile onset0NDUFC2 CL E G H47187706OMIM:619170MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36
HP:0003593HP:0003593Infantile onset0NDUFS1 CL E G H47197707OMIM:618226Mitochondrial complex I deficiency, nuclear type 5.81
HP:0003593HP:0003593Infantile onset0NDUFS2 CL E G H47207708OMIM:618228Mitochondrial complex I deficiency, nuclear type 6.65
HP:0003593HP:0003593Infantile onset0NDUFS4 CL E G H47247711OMIM:252010Mitochondrial complex I deficiency, nuclear type 127
HP:0003593HP:0003593Infantile onset0NDUFV1 CL E G H47237716OMIM:618225Mitochondrial complex I deficiency, nuclear type 4.74
HP:0003593HP:0003593Infantile onset0NDUFV2 CL E G H47297717OMIM:618229Mitochondrial complex I deficiency, nuclear type 7.27
HP:0003593HP:0003593Infantile onset0NEB CL E G H47037720OMIM:256030Nemaline myopathy 2, autosomal recessive.745
HP:0003593HP:0003593Infantile onset0NEFL CL E G H47477739OMIM:607734Charcot-Marie-Tooth disease, demyelinating, type 1F118
HP:0003593HP:0003593Infantile onset0NEMF CL E G H914710663OMIM:619099INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY; IDDSAPN1
HP:0003593HP:0003593Infantile onset0NEUROD2 CL E G H47617763OMIM:618374Epileptic encephalopathy, early infantile, 72.
HP:0003593HP:0003593Infantile onset0NEXMIF CL E G H34053329433OMIM:300912Mental retardation, X-linked 9852
HP:0003593HP:0003593Infantile onset0NF1 CL E G H47637765OMIM:162200Neurofibromatosis, type I1952
HP:0003593HP:0003593Infantile onset0NFE2L2 CL E G H47807782OMIM:617744Immunodeficiency, developmental delay, and hypohomocysteinemia.20
HP:0003593HP:0003593Infantile onset0NFKBIA CL E G H47927797OMIM:612132ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT.27
HP:0003593HP:0003593Infantile onset0NFU1 CL E G H2724716287OMIM:605711Multiple mitochondrial dysfunctions syndrome 134
HP:0003593HP:0003593Infantile onset0NGF CL E G H48037808OMIM:608654Neuropathy, hereditary sensory and autonomic, type V.20
HP:0003593HP:0003593Infantile onset0NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation.32
HP:0003593HP:0003593Infantile onset0NKX2-1 CL E G H708011825OMIM:118700Chorea, benign hereditary51
HP:0003593HP:0003593Infantile onset0NKX6-2 CL E G H8450419321OMIM:617560Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy.2
HP:0003593HP:0003593Infantile onset0NLRC4 CL E G H5848416412OMIM:616115FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4; FCAS430
HP:0003593HP:0003593Infantile onset0NLRP1 CL E G H2286114374OMIM:617388AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK37
HP:0003593HP:0003593Infantile onset0NLRP12 CL E G H9166222938OMIM:611762Familial cold autoinflammatory syndrome 299
HP:0003593HP:0003593Infantile onset0NLRP3 CL E G H11454816400OMIM:607115CINCA SYNDROME; CINCA217
HP:0003593HP:0003593Infantile onset0NLRP3 CL E G H11454816400OMIM:120100FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1217
HP:0003593HP:0003593Infantile onset0NMNAT1 CL E G H6480217877OMIM:608553Leber congenital amaurosis 915
HP:0003593HP:0003593Infantile onset0NMNAT1 CL E G H6480217877OMIM:619260SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA15
HP:0003593HP:0003593Infantile onset0NOS1AP CL E G H972216859OMIM:619155NEPHROTIC SYNDROME, TYPE 22; NPHS224
HP:0003593HP:0003593Infantile onset0NOTCH2NLC CL E G H10099671753924OMIM:619473OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0003593HP:0003593Infantile onset0NPHP3 CL E G H270317907OMIM:208540Renal-Hepatic-Pancreatic dysplasia157
HP:0003593HP:0003593Infantile onset0NR0B1 CL E G H1907960OMIM:300200Adrenal hypoplasia, congenital48
HP:0003593HP:0003593Infantile onset0NR1H4 CL E G H99717967OMIM:617049CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC514
HP:0003593HP:0003593Infantile onset0NR4A2 CL E G H49297981OMIM:61991127
HP:0003593HP:0003593Infantile onset0NSD2 CL E G H746812766OMIM:619695RAUCH-STEINDL SYNDROME; RAUST118
HP:0003593HP:0003593Infantile onset0NSRP1 CL E G H8408125305OMIM:620001
HP:0003593HP:0003593Infantile onset0NSUN2 CL E G H5488825994OMIM:611091Mental retardation, autosomal recessive 584
HP:0003593HP:0003593Infantile onset0NSUN3 CL E G H6389926208OMIM:619012COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48; COXPD48
HP:0003593HP:0003593Infantile onset0NTRK1 CL E G H49148031OMIM:256800Insensitivity to pain, congenital, with anhidrosis.97
HP:0003593HP:0003593Infantile onset0NUP214 CL E G H80218064OMIM:618426Encephalopathy, acute, infection-induced, susceptibility to, 9.1
HP:0003593HP:0003593Infantile onset0NUP62 CL E G H236368066OMIM:271930Striatonigral degeneration, infantile7
HP:0003593HP:0003593Infantile onset0OAS1 CL E G H49388086OMIM:618042Pulmonary alveolar proteinosis with hypogammaglobulinemia2
HP:0003593HP:0003593Infantile onset0OCLN CL E G H1005066588104OMIM:251290Band-Like calcification with simplified gyration and polymicrogyria23
HP:0003593HP:0003593Infantile onset0OGDH CL E G H49678124OMIM:203740Alpha-Ketoglutarate dehydrogenase deficiency
HP:0003593HP:0003593Infantile onset0OGDHL CL E G H5575325590OMIM:619701YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN3
HP:0003593HP:0003593Infantile onset0OPA1 CL E G H49768140OMIM:210000Behr syndrome214
HP:0003593HP:0003593Infantile onset0OPHN1 CL E G H49838148OMIM:300486Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance55
HP:0003593HP:0003593Infantile onset0OSTM1 CL E G H2896221652OMIM:259720Osteopetrosis, autosomal recessive 573
HP:0003593HP:0003593Infantile onset0OTC CL E G H50098512OMIM:311250Ornithine transcarbamylase deficiency, hyperammonemia due to369
HP:0003593HP:0003593Infantile onset0OTULIN CL E G H9026825118OMIM:617099AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS3
HP:0003593HP:0003593Infantile onset0P4HB CL E G H50348548OMIM:112240Cole-Carpenter syndrome 12
HP:0003593HP:0003593Infantile onset0P4HTM CL E G H5468128858OMIM:618493Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0003593HP:0003593Infantile onset0PAK1 CL E G H50588590OMIM:618158Intellectual developmental disorder with macrocephaly, seizures, and speech delay.
HP:0003593HP:0003593Infantile onset0PANK2 CL E G H8002515894OMIM:234200Neurodegeneration with brain iron accumulation 155
HP:0003593HP:0003593Infantile onset0PARN CL E G H50738609OMIM:616353Dyskeratosis congenita, autosomal recessive 6.26
HP:0003593HP:0003593Infantile onset0PC CL E G H50918636OMIM:266150Pyruvate carboxylase deficiency118
HP:0003593HP:0003593Infantile onset0PCDH12 CL E G H512948657OMIM:251280Microcephaly, seizures, spasticity, and brain calcifications
HP:0003593HP:0003593Infantile onset0PCDH15 CL E G H6521714674OMIM:609533Deafness, autosomal recessive 23.352
HP:0003593HP:0003593Infantile onset0PCDH19 CL E G H5752614270OMIM:300088Epileptic encephalopathy, early infantile, 9.225
HP:0003593HP:0003593Infantile onset0PCDHGC4 CL E G H560988717OMIM:619880
HP:0003593HP:0003593Infantile onset0PCK1 CL E G H51058724OMIM:261680Phosphoenolpyruvate carboxykinase deficiency, cytosolic.53
HP:0003593HP:0003593Infantile onset0PDE10A CL E G H108468772OMIM:616921Dyskinesia, limb and orofacial, infantile-onset.5
HP:0003593HP:0003593Infantile onset0PDE2A CL E G H51388777OMIM:619150INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES; IDDPADS
HP:0003593HP:0003593Infantile onset0PDGFRB CL E G H51598804OMIM:228550Myofibromatosis, infantile, 128
HP:0003593HP:0003593Infantile onset0PDHA1 CL E G H51608806OMIM:312170Pyruvate dehydrogenase e1-alpha deficiency.88
HP:0003593HP:0003593Infantile onset0PDP1 CL E G H547049279OMIM:608782Pyruvate dehydrogenase phosphatase deficiency.52
HP:0003593HP:0003593Infantile onset0PDZD8 CL E G H11898726974OMIM:620021
HP:0003593HP:0003593Infantile onset0PERP CL E G H6406517637OMIM:619208OLMSTED SYNDROME 2; OLMS2
HP:0003593HP:0003593Infantile onset0PET100 CL E G H10013180140038OMIM:619055MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN126
HP:0003593HP:0003593Infantile onset0PEX1 CL E G H51898850OMIM:214100Peroxisome biogenesis disorder 1A (Zellweger)169
HP:0003593HP:0003593Infantile onset0PEX16 CL E G H94098857OMIM:614877Peroxisome biogenesis disorder 8B59
HP:0003593HP:0003593Infantile onset0PEX2 CL E G H58289717OMIM:614867Peroxisome biogenesis disorder 5B82
HP:0003593HP:0003593Infantile onset0PGAP1 CL E G H8005525712OMIM:615802MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT4220
HP:0003593HP:0003593Infantile onset0PGAP3 CL E G H9321023719OMIM:615716Hyperphosphatasia with mental retardation syndrome 4.20
HP:0003593HP:0003593Infantile onset0PHEX CL E G H52518918OMIM:307800Hypophosphatemic rickets, X-linked dominant217
HP:0003593HP:0003593Infantile onset0PHIP CL E G H5502315673OMIM:617991Developmental delay, intellectual disability, obesity, and dysmorphic features.11
HP:0003593HP:0003593Infantile onset0PHKA2 CL E G H52568926OMIM:306000Glycogen storage disease ixa54
HP:0003593HP:0003593Infantile onset0PHKB CL E G H52578927OMIM:261750Glycogen storage disease ixb101
HP:0003593HP:0003593Infantile onset0PHKG2 CL E G H52618931OMIM:613027Glycogen storage disease IXc48
HP:0003593HP:0003593Infantile onset0PHOX2B CL E G H89299143OMIM:209880Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease86
HP:0003593HP:0003593Infantile onset0PI4KA CL E G H52978983OMIM:619708GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID211
HP:0003593HP:0003593Infantile onset0PI4KA CL E G H52978983OMIM:619621SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG8411
HP:0003593HP:0003593Infantile onset0PIDD1 CL E G H5536716491OMIM:619827INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY; MRT75
HP:0003593HP:0003593Infantile onset0PIGA CL E G H52778957OMIM:301072NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH46
HP:0003593HP:0003593Infantile onset0PIGG CL E G H5487225985OMIM:616917Mental retardation, autosomal recessive 537
HP:0003593HP:0003593Infantile onset0PIGK CL E G H100268965OMIM:618879NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS
HP:0003593HP:0003593Infantile onset0PIGM CL E G H9318318858OMIM:610293Glycosylphosphatidylinositol deficiency6
HP:0003593HP:0003593Infantile onset0PIGP CL E G H512273046OMIM:617599Epileptic encephalopathy, early infantile, 55.2
HP:0003593HP:0003593Infantile onset0PIGS CL E G H9400514937OMIM:618143GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0003593HP:0003593Infantile onset0PIGT CL E G H5160414938OMIM:615398Multiple congenital anomalies-hypotonia-seizures syndrome 3.12
HP:0003593HP:0003593Infantile onset0PIK3CD CL E G H52938977OMIM:619281IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B9
HP:0003593HP:0003593Infantile onset0PIK3R1 CL E G H52958979OMIM:615214Agammaglobulinemia 7, autosomal recessive.43
HP:0003593HP:0003593Infantile onset0PIK3R1 CL E G H52958979OMIM:616005Immunodeficiency 3643
HP:0003593HP:0003593Infantile onset0PINK1 CL E G H6501814581OMIM:605909Parkinson disease 6, autosomal recessive early-onset.55
HP:0003593HP:0003593Infantile onset0PITRM1 CL E G H1053117663OMIM:619405SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30; SCAR301
HP:0003593HP:0003593Infantile onset0PKHD1 CL E G H53149016OMIM:263200Polycystic kidney disease 4 with or without polycystic liver disease563
HP:0003593HP:0003593Infantile onset0PLCB1 CL E G H2323615917OMIM:613722Epileptic encephalopathy, early infantile, 12119
HP:0003593HP:0003593Infantile onset0PLCG2 CL E G H53369066OMIM:614878Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated.21
HP:0003593HP:0003593Infantile onset0PLCG2 CL E G H53369066OMIM:614468FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS321<