Human Phenotype Ontology 
Grandparent Node:
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Abnormality of nervous system physiology (HP:0012638)help
Parent Node:
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Neurodevelopmental abnormality (HP:0012759)help
..Starting node
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Developmental regression (HP:0002376)help
Term ID: 2376
Name: Developmental regression
Synonym: Loss of developmental milestones; Mental deterioration in childhood; Neurodevelopmental regression; Psychomotor regression; Psychomotor regression beginning in infancy; Psychomotor regression in infants; Psychomotor regression, progressive
Definition: Loss of developmental skills, as manifested by loss of developmental milestones.
Comments:
Reference: HP:0002376
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandDevelopmental stagnation (HP:0007281) help
..expandIntellectual disability (HP:0001249) help
..expandNeurodevelopmental delay (HP:0012758) help
..expandSpecific learning disability (HP:0001328) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002376HP:0002376Developmental regression0AARS CL E G H16442835ORPHA12120601065
HP:0002376HP:0002376Developmental regression0ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM112616066617036
HP:0002376HP:0002376Developmental regression0ACOX1 CL E G H512971ORPHA126384119609751
HP:0002376HP:0002376Developmental regression0ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM126384119609751
HP:0002376HP:0002376Developmental regression0ADA2 CL E G H51816820ORPHA1553091839607575
HP:0002376HP:0002376Developmental regression0ADAR CL E G H103225154ORPHA1229468225146920
HP:0002376HP:0002376Developmental regression0ADAR CL E G H10351ORPHA1229468225146920
HP:0002376HP:0002376Developmental regression0ADPRHL2 CL E G H54936618170NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES618170OMIM1621304610624
HP:0002376HP:0002376Developmental regression0AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM138327318613228
HP:0002376HP:0002376Developmental regression0AGTPBP1 CL E G H23287618276618276618276OMIM115917258606830
HP:0002376HP:0002376Developmental regression0AHCY CL E G H19188618ORPHA115110343180960
HP:0002376HP:0002376Developmental regression0AIFM1 CL E G H9131238329ORPHA1333988768300169
HP:0002376HP:0002376Developmental regression0AIFM1 CL E G H9131300816Combined oxidative phosphorylation deficiency 6300816C3151753OMIM1333988768300169
HP:0002376HP:0002376Developmental regression0AP3B2 CL E G H8120442835ORPHA112109567602166
HP:0002376HP:0002376Developmental regression0APOPT1 CL E G H84334436271ORPHA112120492616003
HP:0002376HP:0002376Developmental regression0ARSA CL E G H410309263ORPHA1254723713607574
HP:0002376HP:0002376Developmental regression0ARSA CL E G H410309256ORPHA1254723713607574
HP:0002376HP:0002376Developmental regression0ARSA CL E G H410309271ORPHA1254723713607574
HP:0002376HP:0002376Developmental regression0ARV1 CL E G H64801442835ORPHA136129561611647
HP:0002376HP:0002376Developmental regression0ARX CL E G H1703023451Meier Blumberg Imahorn syndromeORPHA19855818060300382
HP:0002376HP:0002376Developmental regression0ASPA CL E G H443271900Spongy degeneration of central nervous system271900C0206307OMIM1102244756608034
HP:0002376HP:0002376Developmental regression0ATP6V1A CL E G H523442835ORPHA1975851607027
HP:0002376HP:0002376Developmental regression0ATP7A CL E G H538565ORPHA1357877869300011
HP:0002376HP:0002376Developmental regression0BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM166324415613183
HP:0002376HP:0002376Developmental regression0BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM15032115832606158
HP:0002376HP:0002376Developmental regression0C12orf65 CL E G H91574613559Combined oxidative phosphorylation deficiency 7613559C3150801OMIM11126784613541
HP:0002376HP:0002376Developmental regression0CACNA1A CL E G H773442835ORPHA125119631388601011
HP:0002376HP:0002376Developmental regression0CAD CL E G H790616457Epileptic encephalopathy, early infantile, 50616457C4225320OMIM1122161424114010
HP:0002376HP:0002376Developmental regression0CDKL5 CL E G H67923095ORPHA1388125011411300203
HP:0002376HP:0002376Developmental regression0CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1388125011411300203
HP:0002376HP:0002376Developmental regression0CDKL5 CL E G H67923451Meier Blumberg Imahorn syndromeORPHA1388125011411300203
HP:0002376HP:0002376Developmental regression0CHD2 CL E G H11061942ORPHA16011261917602119
HP:0002376HP:0002376Developmental regression0CHD2 CL E G H1106615369Epileptic encephalopathy, childhood-onset615369C3809278OMIM16011261917602119
HP:0002376HP:0002376Developmental regression0CIC CL E G H23152617600MENTAL RETARDATION, AUTOSOMAL DOMINANT 45617600C4539848OMIM11017214214612082
HP:0002376HP:0002376Developmental regression0CLN5 CL E G H1203256731Ceroid lipofuscinosis neuronal 5256731C1850442OMIM1524432076608102
HP:0002376HP:0002376Developmental regression0CLN8 CL E G H20551947ORPHA1444282079607837
HP:0002376HP:0002376Developmental regression0CLN8 CL E G H2055600143Ceroid lipofuscinosis neuronal 8600143C1838570OMIM1444282079607837
HP:0002376HP:0002376Developmental regression0CLTC CL E G H1213442835ORPHA114902092118955
HP:0002376HP:0002376Developmental regression0CNKSR2 CL E G H22866442835ORPHA1624019701300724
HP:0002376HP:0002376Developmental regression0CNPY3 CL E G H106953451Meier Blumberg Imahorn syndromeORPHA152711968610774
HP:0002376HP:0002376Developmental regression0COASY CL E G H80347615643Neurodegeneration with brain iron accumulation 6615643C3810230OMIM1310029932609855
HP:0002376HP:0002376Developmental regression0COQ8A CL E G H56997139485ORPHA14336316812606980
HP:0002376HP:0002376Developmental regression0CPLX1 CL E G H10815352582ORPHA131512309605032
HP:0002376HP:0002376Developmental regression0CYFIP2 CL E G H26999442835ORPHA137613760606323
HP:0002376HP:0002376Developmental regression0CYP27A1 CL E G H1593909ORPHA11164392605606530
HP:0002376HP:0002376Developmental regression0DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA117942718600811
HP:0002376HP:0002376Developmental regression0DHDDS CL E G H79947442835ORPHA1819920603608172
HP:0002376HP:0002376Developmental regression0DNM1 CL E G H1759442835ORPHA1314432972602377
HP:0002376HP:0002376Developmental regression0DNM1 CL E G H1759616346Epileptic encephalopathy, early infantile, 31616346C4225357OMIM1314432972602377
HP:0002376HP:0002376Developmental regression0EARS2 CL E G H124454614924Combined oxidative phosphorylation deficiency 12614924C3554079OMIM13020429419612799
HP:0002376HP:0002376Developmental regression0EEF1A2 CL E G H1917442835ORPHA1123703192602959
HP:0002376HP:0002376Developmental regression0EIF2B1 CL E G H1967603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM191033257606686
HP:0002376HP:0002376Developmental regression0EIF2B2 CL E G H8892603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM1291013258606454
HP:0002376HP:0002376Developmental regression0EIF2B3 CL E G H8891603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM122963259606273
HP:0002376HP:0002376Developmental regression0EIF2B4 CL E G H8890603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM1331023260606687
HP:0002376HP:0002376Developmental regression0EIF2B5 CL E G H8893603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11012793261603945
HP:0002376HP:0002376Developmental regression0EPRS CL E G H2058617951LEUKODYSTROPHY, HYPOMYELINATING, 15617951CN244566OMIM163418138295
HP:0002376HP:0002376Developmental regression0ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA11083193434126340
HP:0002376HP:0002376Developmental regression0ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA1201713435133510
HP:0002376HP:0002376Developmental regression0ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA1724503436133520
HP:0002376HP:0002376Developmental regression0ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA1593363437133530
HP:0002376HP:0002376Developmental regression0ETHE1 CL E G H2347451188ORPHA13720323287608451
HP:0002376HP:0002376Developmental regression0ETHE1 CL E G H23474602473Ethylmalonic encephalopathy602473C1865349OMIM13720323287608451
HP:0002376HP:0002376Developmental regression0FGF12 CL E G H2257442835ORPHA1101233668601513
HP:0002376HP:0002376Developmental regression0FGF12 CL E G H2257617166Epileptic encephalopathy, early infantile, 47617166C4310685OMIM1101233668601513
HP:0002376HP:0002376Developmental regression0FOLR1 CL E G H2348613068Cerebral folate deficiency613068C2751584OMIM1281553791136430
HP:0002376HP:0002376Developmental regression0FOXG1 CL E G H22903095ORPHA11694623811164874
HP:0002376HP:0002376Developmental regression0FOXG1 CL E G H2290261144ORPHA11694623811164874
HP:0002376HP:0002376Developmental regression0FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM11694623811164874
HP:0002376HP:0002376Developmental regression0FRRS1L CL E G H23732616981Epileptic encephalopathy, early infantile, 37616981C4310770OMIM162521362604574
HP:0002376HP:0002376Developmental regression0GABBR2 CL E G H95683095ORPHA184934507607340
HP:0002376HP:0002376Developmental regression0GABBR2 CL E G H9568617903NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS617903CN870852OMIM184934507607340
HP:0002376HP:0002376Developmental regression0GABRB1 CL E G H2560617153Epileptic encephalopathy, early infantile, 45617153C4310691OMIM15494081137190
HP:0002376HP:0002376Developmental regression0GABRB2 CL E G H2561442835ORPHA1163104082600232
HP:0002376HP:0002376Developmental regression0GALC CL E G H2581245200Galactosylceramide beta-galactosidase deficiency245200C0023521OMIM12517224115606890
HP:0002376HP:0002376Developmental regression0GFAP CL E G H2670203450Alexander's disease203450C0270726OMIM11352724235137780
HP:0002376HP:0002376Developmental regression0GM2A CL E G H2760309246ORPHA1121404367613109
HP:0002376HP:0002376Developmental regression0GRIN2B CL E G H29043451Meier Blumberg Imahorn syndromeORPHA11078694586138252
HP:0002376HP:0002376Developmental regression0GRIN2D CL E G H2906442835ORPHA121094588602717
HP:0002376HP:0002376Developmental regression0GUF1 CL E G H605583451Meier Blumberg Imahorn syndromeORPHA125425799617064
HP:0002376HP:0002376Developmental regression0HACE1 CL E G H57531616756Spastic paraplegia and psychomotor retardation with or without seizures616756C4225215OMIM1137321033610876
HP:0002376HP:0002376Developmental regression0HCN1 CL E G H348980442835ORPHA1404184845602780
HP:0002376HP:0002376Developmental regression0HIBCH CL E G H26275250620Beta-hydroxyisobutyryl-CoA deacylase deficiency250620C0342738OMIM1191244908610690
HP:0002376HP:0002376Developmental regression0HNRNPH2 CL E G H3188300986Mental retardation, X-linked, syndromic, Bain type300986C4310814OMIM141845042300610
HP:0002376HP:0002376Developmental regression0HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM1171954800300256
HP:0002376HP:0002376Developmental regression0HTT CL E G H306439946,XX testicular disorder of sex developmentC2936420ORPHA181434851613004
HP:0002376HP:0002376Developmental regression0HTT CL E G H3064617435Lopes-Maciel-Rodan syndrome617435C4479491OMIM181434851613004
HP:0002376HP:0002376Developmental regression0IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM12313827302615316
HP:0002376HP:0002376Developmental regression0IFIH1 CL E G H6413551ORPHA12846218873606951
HP:0002376HP:0002376Developmental regression0IRF2BPL CL E G H64207618088NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES618088CN252701OMIM1119314282611720
HP:0002376HP:0002376Developmental regression0IRX5 CL E G H10265611174Hamamy syndrome611174C1970027OMIM164714361606195
HP:0002376HP:0002376Developmental regression0ISCA1 CL E G H81689617613MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5617613C4539919OMIM123428660611006
HP:0002376HP:0002376Developmental regression0KCNA2 CL E G H3737442835ORPHA1212296220176262
HP:0002376HP:0002376Developmental regression0KCNB1 CL E G H3745442835ORPHA1303886231600397
HP:0002376HP:0002376Developmental regression0KCNT1 CL E G H57582614959Early infantile epileptic encephalopathy 14614959C3554195OMIM143127518865608167
HP:0002376HP:0002376Developmental regression0KCNT2 CL E G H343450617771EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 57617771C4540411OMIM154918866610044
HP:0002376HP:0002376Developmental regression0KCTD7 CL E G H154881263516ORPHA12130221957611725
HP:0002376HP:0002376Developmental regression0L2HGDH CL E G H79944236792L-2-hydroxyglutaric aciduria236792C1855995OMIM18112420499609584
HP:0002376HP:0002376Developmental regression0LMBRD1 CL E G H5578879284ORPHA1915223038612625
HP:0002376HP:0002376Developmental regression0LYRM7 CL E G H90624615838Mitochondrial complex III deficiency, nuclear type 8615838C4014440OMIM196228072615831
HP:0002376HP:0002376Developmental regression0MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA12622815455300294
HP:0002376HP:0002376Developmental regression0MECP2 CL E G H42043095ORPHA1105015846990300005
HP:0002376HP:0002376Developmental regression0MECP2 CL E G H4204312750Rett syndrome312750C0035372OMIM1105015846990300005
HP:0002376HP:0002376Developmental regression0MRPS34 CL E G H65993617664COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32617664C4540029OMIM146316618611994
HP:0002376HP:0002376Developmental regression0MT-ATP6 CL E G H4508225154ORPHA17414516060
HP:0002376HP:0002376Developmental regression0MT-CO1 CL E G H4512550ORPHA17419516030
HP:0002376HP:0002376Developmental regression0MT-CO2 CL E G H4513550ORPHA17421516040
HP:0002376HP:0002376Developmental regression0MT-CO3 CL E G H4514550ORPHA17422516050
HP:0002376HP:0002376Developmental regression0MT-ND1 CL E G H4535550ORPHA17455516000
HP:0002376HP:0002376Developmental regression0MT-ND4 CL E G H4538550ORPHA17459516003
HP:0002376HP:0002376Developmental regression0MT-ND5 CL E G H4540550ORPHA17461516005
HP:0002376HP:0002376Developmental regression0MT-ND6 CL E G H4541550ORPHA17462516006
HP:0002376HP:0002376Developmental regression0MT-TF CL E G H4558550ORPHA17481590070
HP:0002376HP:0002376Developmental regression0MT-TH CL E G H4564550ORPHA17487590040
HP:0002376HP:0002376Developmental regression0MT-TL1 CL E G H4567550ORPHA17490590050
HP:0002376HP:0002376Developmental regression0MT-TQ CL E G H4572550ORPHA17495590030
HP:0002376HP:0002376Developmental regression0MT-TS1 CL E G H4574550ORPHA17497590080
HP:0002376HP:0002376Developmental regression0MT-TS2 CL E G H4575550ORPHA17498590085
HP:0002376HP:0002376Developmental regression0MT-TW CL E G H4578550ORPHA17501590095
HP:0002376HP:0002376Developmental regression0NAGA CL E G H466879279ORPHA1111567631104170
HP:0002376HP:0002376Developmental regression0NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM1111567631104170
HP:0002376HP:0002376Developmental regression0NAXE CL E G H128240617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy617186C4310675OMIM1105518453608862
HP:0002376HP:0002376Developmental regression0NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM1282567707157655
HP:0002376HP:0002376Developmental regression0NDUFS2 CL E G H4720618228MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6618228OMIM1241357708602985
HP:0002376HP:0002376Developmental regression0NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM117977711602694
HP:0002376HP:0002376Developmental regression0NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM181287714601825
HP:0002376HP:0002376Developmental regression0NDUFV1 CL E G H4723618225MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4618225OMIM1361727716161015
HP:0002376HP:0002376Developmental regression0NDUFV2 CL E G H4729618229MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7618229OMIM181607717600532
HP:0002376HP:0002376Developmental regression0NECAP1 CL E G H25977442835ORPHA1110224539611623
HP:0002376HP:0002376Developmental regression0NOTCH3 CL E G H4854136ORPHA13798367883600276
HP:0002376HP:0002376Developmental regression0NRXN1 CL E G H9378614325Pitt-Hopkins-like syndrome 2614325C3280479OMIM134513568008600565
HP:0002376HP:0002376Developmental regression0NTNG1 CL E G H228543095ORPHA144223319608818
HP:0002376HP:0002376Developmental regression0NTRK2 CL E G H4915442835ORPHA1131078032600456
HP:0002376HP:0002376Developmental regression0NTRK2 CL E G H49153451Meier Blumberg Imahorn syndromeORPHA1131078032600456
HP:0002376HP:0002376Developmental regression0NUP62 CL E G H23636225154ORPHA11438066605815
HP:0002376HP:0002376Developmental regression0NUP62 CL E G H23636271930Striatonigral degeneration infantile271930C0795996OMIM11438066605815
HP:0002376HP:0002376Developmental regression0NUS1 CL E G H116150442835ORPHA1227621042610463
HP:0002376HP:0002376Developmental regression0PCDH19 CL E G H57526300088Early infantile epileptic encephalopathy 9300088C1848137OMIM120590014270300460
HP:0002376HP:0002376Developmental regression0PEX1 CL E G H518944MYBPC1-related conditionORPHA11407828850602136
HP:0002376HP:0002376Developmental regression0PEX10 CL E G H519244MYBPC1-related conditionORPHA1324758851602859
HP:0002376HP:0002376Developmental regression0PEX11B CL E G H879944MYBPC1-related conditionORPHA182818853603867
HP:0002376HP:0002376Developmental regression0PEX12 CL E G H519344MYBPC1-related conditionORPHA1372408854601758
HP:0002376HP:0002376Developmental regression0PEX13 CL E G H519444MYBPC1-related conditionORPHA1102328855601789
HP:0002376HP:0002376Developmental regression0PEX14 CL E G H519544MYBPC1-related conditionORPHA152348856601791
HP:0002376HP:0002376Developmental regression0PEX16 CL E G H940944MYBPC1-related conditionORPHA1152038857603360
HP:0002376HP:0002376Developmental regression0PEX19 CL E G H582444MYBPC1-related conditionORPHA141799713600279
HP:0002376HP:0002376Developmental regression0PEX2 CL E G H582844MYBPC1-related conditionORPHA1182519717170993
HP:0002376HP:0002376Developmental regression0PEX26 CL E G H5567044MYBPC1-related conditionORPHA12731322965608666
HP:0002376HP:0002376Developmental regression0PEX3 CL E G H850444MYBPC1-related conditionORPHA1101558858603164
HP:0002376HP:0002376Developmental regression0PEX5 CL E G H583044MYBPC1-related conditionORPHA1144039719600414
HP:0002376HP:0002376Developmental regression0PEX6 CL E G H519044MYBPC1-related conditionORPHA11096398859601498
HP:0002376HP:0002376Developmental regression0PEX7 CL E G H5191773ORPHA1533108860601757
HP:0002376HP:0002376Developmental regression0PHACTR1 CL E G H2216923451Meier Blumberg Imahorn syndromeORPHA124720990608723
HP:0002376HP:0002376Developmental regression0PHYH CL E G H5264773ORPHA1372018940602026
HP:0002376HP:0002376Developmental regression0PIGA CL E G H52773451Meier Blumberg Imahorn syndromeORPHA1293828957311770
HP:0002376HP:0002376Developmental regression0PIGT CL E G H51604615398Multiple congenital anomalies-hypotonia-seizures syndrome 3615398C3809356OMIM11211514938610272
HP:0002376HP:0002376Developmental regression0PIGY CL E G H84992616809Hyperphosphatasia with mental retardation syndrome 6616809C4225201OMIM122928213610662
HP:0002376HP:0002376Developmental regression0PLA2G6 CL E G H839835069ORPHA11794139039603604
HP:0002376HP:0002376Developmental regression0PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM11794139039603604
HP:0002376HP:0002376Developmental regression0PLCB1 CL E G H232363451Meier Blumberg Imahorn syndromeORPHA11072515917607120
HP:0002376HP:0002376Developmental regression0PMPCB CL E G H9512617954MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6617954CN244567OMIM15449119603131
HP:0002376HP:0002376Developmental regression0POLG CL E G H5428726ORPHA130014389179174763
HP:0002376HP:0002376Developmental regression0POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM130014389179174763
HP:0002376HP:0002376Developmental regression0POLR3A CL E G H11128447896ORPHA19245330074614258
HP:0002376HP:0002376Developmental regression0PPP3CA CL E G H5530442835ORPHA111669314114105
HP:0002376HP:0002376Developmental regression0PPP3CA CL E G H5530617711EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1617711C4540199OMIM111669314114105
HP:0002376HP:0002376Developmental regression0PSAP CL E G H5660309263ORPHA1273889498176801
HP:0002376HP:0002376Developmental regression0PSAP CL E G H5660309256ORPHA1273889498176801
HP:0002376HP:0002376Developmental regression0PSAP CL E G H5660309271ORPHA1273889498176801
HP:0002376HP:0002376Developmental regression0PSAP CL E G H5660249900Sphingolipid activator protein 1 deficiency249900C0268262OMIM1273889498176801
HP:0002376HP:0002376Developmental regression0RANBP2 CL E G H590388619ORPHA186849848601181
HP:0002376HP:0002376Developmental regression0RHOBTB2 CL E G H23221618004EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64618004CN248512OMIM1613118756607352
HP:0002376HP:0002376Developmental regression0RNASEH2A CL E G H1053551ORPHA12118518518606034
HP:0002376HP:0002376Developmental regression0RNASEH2B CL E G H7962151ORPHA14218925671610326
HP:0002376HP:0002376Developmental regression0RNASEH2C CL E G H8415351ORPHA11514424116610330
HP:0002376HP:0002376Developmental regression0ROGDI CL E G H796411946ORPHA11333729478614574
HP:0002376HP:0002376Developmental regression0SAMHD1 CL E G H2593951ORPHA15732415925606754
HP:0002376HP:0002376Developmental regression0SCN2A CL E G H63263451Meier Blumberg Imahorn syndromeORPHA1268142210588182390
HP:0002376HP:0002376Developmental regression0SCN3A CL E G H6328442835ORPHA11970710590182391
HP:0002376HP:0002376Developmental regression0SCN8A CL E G H6334442835ORPHA1103107410596600702
HP:0002376HP:0002376Developmental regression0SCN8A CL E G H6334614558Early infantile epileptic encephalopathy 13614558C3281191OMIM1103107410596600702
HP:0002376HP:0002376Developmental regression0SDHA CL E G H63893208ORPHA191153810680600857
HP:0002376HP:0002376Developmental regression0SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM191153810680600857
HP:0002376HP:0002376Developmental regression0SDHAF1 CL E G H6440963208ORPHA164633867612848
HP:0002376HP:0002376Developmental regression0SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM164633867612848
HP:0002376HP:0002376Developmental regression0SDHB CL E G H63903208ORPHA127981910681185470
HP:0002376HP:0002376Developmental regression0SDHD CL E G H63923208ORPHA117443810683602690
HP:0002376HP:0002376Developmental regression0SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM117443810683602690
HP:0002376HP:0002376Developmental regression0SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM15224221061614725
HP:0002376HP:0002376Developmental regression0SGPL1 CL E G H8879617575Nephrotic syndrome type 14617575C4539778OMIM1185410817603729
HP:0002376HP:0002376Developmental regression0SIK1 CL E G H1500943451Meier Blumberg Imahorn syndromeORPHA1755711142605705
HP:0002376HP:0002376Developmental regression0SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM11614719353607776
HP:0002376HP:0002376Developmental regression0SLC12A5 CL E G H57468616645Early infantile epileptic encephalopathy 34616645C4225257OMIM11639513818606726
HP:0002376HP:0002376Developmental regression0SLC13A5 CL E G H2841111946ORPHA12142823089608305
HP:0002376HP:0002376Developmental regression0SLC13A5 CL E G H284111442835ORPHA12142823089608305
HP:0002376HP:0002376Developmental regression0SLC1A2 CL E G H6506442835ORPHA186510940600300
HP:0002376HP:0002376Developmental regression0SLC29A3 CL E G H553151782ORPHA12624723096612373
HP:0002376HP:0002376Developmental regression0SLC2A3 CL E G H651539946,XX testicular disorder of sex developmentC2936420ORPHA136911007138170
HP:0002376HP:0002376Developmental regression0SLC30A9 CL E G H10463617595Birk-Landau-Perez syndrome617595C4539828OMIM12221329604604
HP:0002376HP:0002376Developmental regression0SLC39A14 CL E G H23516617013Hypermanganesemia with dystonia 2617013C4310765OMIM1913620858608736
HP:0002376HP:0002376Developmental regression0SLC6A1 CL E G H65291942ORPHA14345711042137165
HP:0002376HP:0002376Developmental regression0SLC9A6 CL E G H1047985278ORPHA12843511079300231
HP:0002376HP:0002376Developmental regression0SON CL E G H6651617140ZTTK syndrome617140C4310696OMIM12830011183182465
HP:0002376HP:0002376Developmental regression0SPTAN1 CL E G H67093451Meier Blumberg Imahorn syndromeORPHA140130211273182810
HP:0002376HP:0002376Developmental regression0ST3GAL3 CL E G H64873451Meier Blumberg Imahorn syndromeORPHA1518010866606494
HP:0002376HP:0002376Developmental regression0ST3GAL5 CL E G H8869370938ORPHA1724110872604402
HP:0002376HP:0002376Developmental regression0ST3GAL5 CL E G H8869609056Amish infantile epilepsy syndrome609056C1836824OMIM1724110872604402
HP:0002376HP:0002376Developmental regression0STXBP1 CL E G H68123095ORPHA119570611444602926
HP:0002376HP:0002376Developmental regression0STXBP1 CL E G H6812442835ORPHA119570611444602926
HP:0002376HP:0002376Developmental regression0STXBP1 CL E G H6812612164Early infantile epileptic encephalopathy 4612164C2677326OMIM119570611444602926
HP:0002376HP:0002376Developmental regression0STXBP1 CL E G H68123451Meier Blumberg Imahorn syndromeORPHA119570611444602926
HP:0002376HP:0002376Developmental regression0SUMF1 CL E G H285362585ORPHA15538220376607939
HP:0002376HP:0002376Developmental regression0SYNGAP1 CL E G H8831442835ORPHA18679611497603384
HP:0002376HP:0002376Developmental regression0SYNGAP1 CL E G H8831612621Mental retardation, autosomal dominant 5612621C2675473OMIM18679611497603384
HP:0002376HP:0002376Developmental regression0SYNJ1 CL E G H8867442835ORPHA12772311503604297
HP:0002376HP:0002376Developmental regression0SZT2 CL E G H23334442835ORPHA125160929040615463
HP:0002376HP:0002376Developmental regression0TBC1D24 CL E G H57465352596ORPHA15665929203613577
HP:0002376HP:0002376Developmental regression0TBC1D24 CL E G H57465352582ORPHA15665929203613577
HP:0002376HP:0002376Developmental regression0TBC1D24 CL E G H57465615338Early infantile epileptic encephalopathy 16615338C3809173OMIM15665929203613577
HP:0002376HP:0002376Developmental regression0TBCD CL E G H6904617193Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum617193C4310671OMIM12329411581604649
HP:0002376HP:0002376Developmental regression0TBCE CL E G H6905496756ORPHA1826011582604934
HP:0002376HP:0002376Developmental regression0TK2 CL E G H7084254875ORPHA16022811831188250
HP:0002376HP:0002376Developmental regression0TPP1 CL E G H1200204500Ceroid lipofuscinosis neuronal 2204500C1876161OMIM11156382073607998
HP:0002376HP:0002376Developmental regression0TRAK1 CL E G H22906442835ORPHA163829947608112
HP:0002376HP:0002376Developmental regression0TRAK1 CL E G H22906618201EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68618201OMIM163829947608112
HP:0002376HP:0002376Developmental regression0TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM136024284614139
HP:0002376HP:0002376Developmental regression0TREM2 CL E G H542092770ORPHA1566417761605086
HP:0002376HP:0002376Developmental regression0TREX1 CL E G H1127751ORPHA17119712269606609
HP:0002376HP:0002376Developmental regression0TUFM CL E G H7284610678Combined oxidative phosphorylation deficiency 4610678C1857682OMIM1722612420602389
HP:0002376HP:0002376Developmental regression0TYROBP CL E G H73052770ORPHA1145112449604142
HP:0002376HP:0002376Developmental regression0UBA5 CL E G H79876442835ORPHA1185723230610552
HP:0002376HP:0002376Developmental regression0UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM133912511600673
HP:0002376HP:0002376Developmental regression0VAC14 CL E G H55697617054Striatonigral degeneration, childhood-onset617054C4310743OMIM1711825507604632
HP:0002376HP:0002376Developmental regression0VPS13A CL E G H232302388ORPHA111612301908605978
HP:0002376HP:0002376Developmental regression0WWOX CL E G H51741442835ORPHA15075512799605131
HP:0002376HP:0002376Developmental regression0XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA15121412814611153
HP:0002376HP:0002376Developmental regression0XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA110050512816613208
HP:0002376HP:0002376Developmental regression0YWHAG CL E G H7532442835ORPHA155612852605356
HP:0002376HP:0002376Developmental regression0ZBTB20 CL E G H261373042ORPHA12512613503606025
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002376HP:0002376Developmental regression0AAAS CL E G H8086869ORPHA07911713666605378
HP:0002376HP:0002376Developmental regression0ADAR CL E G H103615010Aicardi-Goutieres syndrome 6615010C3539013OMIM0229468225146920
HP:0002376HP:0002376Developmental regression0BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA05190961605681
HP:0002376HP:0002376Developmental regression0C4A CL E G H720117ORPHA09331323120810
HP:0002376HP:0002376Developmental regression0CCR1 CL E G H1230117ORPHA01191602601159
HP:0002376HP:0002376Developmental regression0CISD2 CL E G H4938563463ORPHA042624212611507
HP:0002376HP:0002376Developmental regression0CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA011762586603432
HP:0002376HP:0002376Developmental regression0CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM02533430664616254
HP:0002376HP:0002376Developmental regression0DNAJC19 CL E G H13111866634ORPHA067530528608977
HP:0002376HP:0002376Developmental regression0ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA01276313327130160
HP:0002376HP:0002376Developmental regression0EPCAM CL E G H4072144ORPHA08135611529185535
HP:0002376HP:0002376Developmental regression0ERAP1 CL E G H51752117ORPHA0119018173606832
HP:0002376HP:0002376Developmental regression0FAN1 CL E G H22909144ORPHA02134529170613534
HP:0002376HP:0002376Developmental regression0FAS CL E G H355117ORPHA014222611920134637
HP:0002376HP:0002376Developmental regression0FTL CL E G H2512157846ORPHA0641033999134790
HP:0002376HP:0002376Developmental regression0GCDH CL E G H263925ORPHA02444634189608801
HP:0002376HP:0002376Developmental regression0GLA CL E G H2717324Slti Salem syndromeORPHA09668654296300644
HP:0002376HP:0002376Developmental regression0GLRX5 CL E G H51218401866ORPHA065920134609588
HP:0002376HP:0002376Developmental regression0GMPPA CL E G H29926869ORPHA0129422923615495
HP:0002376HP:0002376Developmental regression0GNB1 CL E G H2782488613ORPHA0242054396139380
HP:0002376HP:0002376Developmental regression0GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA011584659601679
HP:0002376HP:0002376Developmental regression0GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA062104661604318
HP:0002376HP:0002376Developmental regression0HLA-B CL E G H3106117ORPHA053174932142830
HP:0002376HP:0002376Developmental regression0IFIH1 CL E G H64135615846Aicardi-Goutieres syndrome 7615846C3888244OMIM02846218873606951
HP:0002376HP:0002376Developmental regression0IL10 CL E G H3586117ORPHA021625962124092
HP:0002376HP:0002376Developmental regression0IL12A CL E G H3592117ORPHA02275969161560
HP:0002376HP:0002376Developmental regression0IL12A-AS1 CL E G H101928376117ORPHA013490940
HP:0002376HP:0002376Developmental regression0IL23R CL E G H149233117ORPHA095719100607562
HP:0002376HP:0002376Developmental regression0KLRC4 CL E G H8302117ORPHA0376377602893
HP:0002376HP:0002376Developmental regression0KRAS CL E G H3845144ORPHA0453296407190070
HP:0002376HP:0002376Developmental regression0LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA071956613601329
HP:0002376HP:0002376Developmental regression0LYST CL E G H1130167ORPHA010211591968606897
HP:0002376HP:0002376Developmental regression0MECP2 CL E G H4204778ORPHA0105015846990300005
HP:0002376HP:0002376Developmental regression0MEFV CL E G H4210117ORPHA01897286998608107
HP:0002376HP:0002376Developmental regression0MLH1 CL E G H4292144ORPHA0120335217127120436
HP:0002376HP:0002376Developmental regression0MLH3 CL E G H27030144ORPHA0326337128604395
HP:0002376HP:0002376Developmental regression0MSH2 CL E G H4436144ORPHA0126445857325609309
HP:0002376HP:0002376Developmental regression0MSH6 CL E G H2956144ORPHA060256747329600678
HP:0002376HP:0002376Developmental regression0NDP CL E G H4693649ORPHA01672437678300658
HP:0002376HP:0002376Developmental regression0NDUFAF6 CL E G H137682618239MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17618239OMIM01016228625612392
HP:0002376HP:0002376Developmental regression0PIK3CA CL E G H5290144ORPHA0575318975171834
HP:0002376HP:0002376Developmental regression0PMS1 CL E G H5378144ORPHA036859121600258
HP:0002376HP:0002376Developmental regression0PMS2 CL E G H5395144ORPHA036331309122600259
HP:0002376HP:0002376Developmental regression0POC1A CL E G H25886614813Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis614813C3542022OMIM085424488614783
HP:0002376HP:0002376Developmental regression0RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA041749970600404
HP:0002376HP:0002376Developmental regression0ROGDI CL E G H79641226750Kohlschutter's syndrome226750C0406740OMIM01333729478614574
HP:0002376HP:0002376Developmental regression0SLC1A2 CL E G H6506617105Epileptic encephalopathy, early infantile, 41617105C4310717OMIM086510940600300
HP:0002376HP:0002376Developmental regression0SON CL E G H6651500150ORPHA02830011183182465
HP:0002376HP:0002376Developmental regression0STAT4 CL E G H6775117ORPHA066211365600558
HP:0002376HP:0002376Developmental regression0TBCK CL E G H93627616900Hypotonia, infantile, with psychomotor retardation and characteristic facies 3616900C4225161OMIM01617328261616899
HP:0002376HP:0002376Developmental regression0TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA016111586605842
HP:0002376HP:0002376Developmental regression0TGFBR2 CL E G H7048144ORPHA014867211773190182
HP:0002376HP:0002376Developmental regression0TLR4 CL E G H7099117ORPHA0185411850603030
HP:0002376HP:0002376Developmental regression0TRAPPC11 CL E G H60684869ORPHA01755925751614138
HP:0002376HP:0002376Developmental regression0TTPA CL E G H727496ORPHA03021612404600415
HP:0002376HP:0002376Developmental regression0UBAC2 CL E G H337867117ORPHA0178204860
HP:0002376HP:0002376Developmental regression0WFS1 CL E G H74663463ORPHA039385712762606201


Genes (268) :AAAS AARS ACER3 ACOX1 ADA2 ADAR ADPRHL2 AGA AGTPBP1 AHCY AIFM1 AP3B2 APOPT1 ARSA ARV1 ARX ASPA ATP6 ATP6V1A ATP7A BAZ1B BOLA3 BSCL2 C12ORF65 C12orf65 C4A CACNA1A CAD CCR1 CDKL5 CHD2 CIC CISD2 CLIP2 CLN5 CLN8 CLPB CLTC CNKSR2 CNPY3 COA8 COASY COQ8A COX1 COX2 COX3 CPLX1 CYFIP2 CYP27A1 DDB2 DHDDS DNAJC19 DNM1 EARS2 EEF1A2 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 ELN EPCAM EPRS ERAP1 ERCC2 ERCC3 ERCC4 ERCC5 ETHE1 FAN1 FAS FGF12 FOLR1 FOXG1 FRRS1L FTL GABBR2 GABRB1 GABRB2 GALC GCDH GFAP GLA GLRX5 GM2A GMPPA GNB1 GRIN2B GRIN2D GTF2I GTF2IRD1 GUF1 HACE1 HCN1 HIBCH HLA-B HNRNPH2 HSD17B10 HTT IBA57 IFIH1 IL10 IL12A IL12A-AS1 IL23R IRF2BPL IRX5 ISCA1 KCNA2 KCNB1 KCNT1 KCNT2 KCTD7 KLRC4 KRAS L2HGDH LIMK1 LMBRD1 LYRM7 LYST MBTPS2 MECP2 MEFV MLH1 MLH3 MRPS34 MSH2 MSH6 MT-ATP6 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TW NAGA NAXE ND1 ND4 ND5 ND6 NDP NDUFAF6 NDUFS1 NDUFS2 NDUFS4 NDUFS7 NDUFV1 NDUFV2 NECAP1 NOTCH3 NRXN1 NTNG1 NTRK2 NUP62 NUS1 PCDH19 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PHACTR1 PHYH PIGA PIGT PIGY PIK3CA PLA2G6 PLCB1 PMPCB PMS1 PMS2 POC1A POLG POLR3A PPP3CA PSAP RANBP2 RFC2 RHOBTB2 RNASEH2A RNASEH2B RNASEH2C ROGDI SAMHD1 SCN2A SCN3A SCN8A SDHA SDHAF1 SDHB SDHD SERAC1 SGPL1 SIK1 SIN3A SLC12A5 SLC13A5 SLC1A2 SLC29A3 SLC2A3 SLC30A9 SLC39A14 SLC6A1 SLC9A6 SON SPTAN1 ST3GAL3 ST3GAL5 STAT4 STXBP1 SUMF1 SYNGAP1 SYNJ1 SZT2 TBC1D24 TBCD TBCE TBCK TBL2 TGFBR2 TK2 TLR4 TPP1 TRAK1 TRAPPC11 TRAPPC12 TREM2 TREX1 TRNF TRNH TRNL1 TRNQ TRNS1 TRNS2 TRNW TTPA TUFM TYROBP UBA5 UBAC2 UBTF VAC14 VPS13A WFS1 WWOX XPA XPC YWHAG ZBTB20

Diseases (156) :869 442835 617762 2971 264470 820 51 225154 615010 618170 208400 618276 88618 238329 300816 309263 309271 309256 3451 271900 565 904 614299 615924 613559 117 616457 3095 300672 1942 615369 617600 3463 256731 1947 600143 616271 436271 615643 139485 550 352582 909 910 66634 616346 614924 603896 144 617951 51188 602473 617166 613068 261144 613454 616981 157846 617903 617153 245200 25 203450 324 401866 309246 488613 616756 250620 300986 300438 399 617435 615330 615846 618088 611174 617613 614959 617771 263516 236792 79284 615838 167 2273 778 312750 617664 79279 609241 617186 649 618239 618226 618228 252010 618224 618225 618229 136 614325 271930 300088 44 773 615398 616809 35069 256600 617954 614813 726 203700 447896 617711 249900 88619 618004 1946 226750 614558 3208 252011 614739 617575 613406 616645 617105 1782 617595 617013 85278 500150 617140 370938 609056 612164 585 612621 352596 615338 617193 496756 616900 254875 204500 618201 617669 2770 96 610678 617672 617054 2388 3042
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.