Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal nervous system physiology (HP:0012638)help
Parent Node:
expand
Neurodevelopmental abnormality (HP:0012759)help
..Starting node
..expand
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 H16442835ORPHA120601065
HP:0002376HP:0002376Developmental regression0ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM17316066617036
HP:0002376HP:0002376Developmental regression0ACOX1 CL E G H512971ORPHA1665119609751
HP:0002376HP:0002376Developmental regression0ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1665119609751
HP:0002376HP:0002376Developmental regression0ADA2 CL E G H51816820ORPHA15331839607575
HP:0002376HP:0002376Developmental regression0ADAR CL E G H103225154ORPHA11122225146920
HP:0002376HP:0002376Developmental regression0ADAR CL E G H10351ORPHA11122225146920
HP:0002376HP:0002376Developmental regression0ADPRHL2 CL E G H54936618170NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES618170OMIM121304610624
HP:0002376HP:0002376Developmental regression0AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1509318613228
HP:0002376HP:0002376Developmental regression0AGTPBP1 CL E G H23287618276618276618276OMIM110517258606830
HP:0002376HP:0002376Developmental regression0AHCY CL E G H19188618ORPHA1255343180960
HP:0002376HP:0002376Developmental regression0AIFM1 CL E G H9131238329ORPHA15758768300169
HP:0002376HP:0002376Developmental regression0AIFM1 CL E G H9131300816Combined oxidative phosphorylation deficiency 6300816C3151753OMIM15758768300169
HP:0002376HP:0002376Developmental regression0AP3B2 CL E G H8120442835ORPHA1690567602166
HP:0002376HP:0002376Developmental regression0APOPT1 CL E G H84334436271ORPHA119720492616003
HP:0002376HP:0002376Developmental regression0ARSA CL E G H410309256ORPHA11140713607574
HP:0002376HP:0002376Developmental regression0ARSA CL E G H410309263ORPHA11140713607574
HP:0002376HP:0002376Developmental regression0ARSA CL E G H410309271ORPHA11140713607574
HP:0002376HP:0002376Developmental regression0ARV1 CL E G H64801442835ORPHA18929561611647
HP:0002376HP:0002376Developmental regression0ARX CL E G H1703023451Meier Blumberg Imahorn syndromeORPHA181018060300382
HP:0002376HP:0002376Developmental regression0ASPA CL E G H443271900Spongy degeneration of central nervous system271900C0206307OMIM1388756608034
HP:0002376HP:0002376Developmental regression0ATP6V1A CL E G H523442835ORPHA1229851607027
HP:0002376HP:0002376Developmental regression0ATP7A CL E G H538565ORPHA11751869300011
HP:0002376HP:0002376Developmental regression0BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM110224415613183
HP:0002376HP:0002376Developmental regression0BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0002376HP:0002376Developmental regression0C12orf65 CL E G H91574613559Combined oxidative phosphorylation deficiency 7613559C3150801OMIM126784613541
HP:0002376HP:0002376Developmental regression0CACNA1A CL E G H773442835ORPHA132481388601011
HP:0002376HP:0002376Developmental regression0CAD CL E G H790616457Epileptic encephalopathy, early infantile, 50616457C4225320OMIM113201424114010
HP:0002376HP:0002376Developmental regression0CDKL5 CL E G H67923095ORPHA1173811411300203
HP:0002376HP:0002376Developmental regression0CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1173811411300203
HP:0002376HP:0002376Developmental regression0CDKL5 CL E G H67923451Meier Blumberg Imahorn syndromeORPHA1173811411300203
HP:0002376HP:0002376Developmental regression0CHD2 CL E G H11061942ORPHA118381917602119
HP:0002376HP:0002376Developmental regression0CHD2 CL E G H1106615369Epileptic encephalopathy, childhood-onset615369C3809278OMIM118381917602119
HP:0002376HP:0002376Developmental regression0CIC CL E G H23152617600MENTAL RETARDATION, AUTOSOMAL DOMINANT 45617600C4539848OMIM148014214612082
HP:0002376HP:0002376Developmental regression0CLN5 CL E G H1203256731Ceroid lipofuscinosis neuronal 5256731C1850442OMIM17022076608102
HP:0002376HP:0002376Developmental regression0CLN8 CL E G H20551947ORPHA16402079607837
HP:0002376HP:0002376Developmental regression0CLN8 CL E G H2055600143Ceroid lipofuscinosis neuronal 8600143C1838570OMIM16402079607837
HP:0002376HP:0002376Developmental regression0CLTC CL E G H1213442835ORPHA16452092118955
HP:0002376HP:0002376Developmental regression0CNKSR2 CL E G H22866442835ORPHA130619701300724
HP:0002376HP:0002376Developmental regression0CNPY3 CL E G H106953451Meier Blumberg Imahorn syndromeORPHA14411968610774
HP:0002376HP:0002376Developmental regression0COASY CL E G H80347615643Neurodegeneration with brain iron accumulation 6615643C3810230OMIM128129932609855
HP:0002376HP:0002376Developmental regression0COQ8A CL E G H56997139485ORPHA169916812606980
HP:0002376HP:0002376Developmental regression0CPLX1 CL E G H10815352582ORPHA12062309605032
HP:0002376HP:0002376Developmental regression0CYFIP2 CL E G H26999442835ORPHA166813760606323
HP:0002376HP:0002376Developmental regression0CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0002376HP:0002376Developmental regression0DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA11422718600811
HP:0002376HP:0002376Developmental regression0DHDDS CL E G H79947442835ORPHA143420603608172
HP:0002376HP:0002376Developmental regression0DNM1 CL E G H1759442835ORPHA17652972602377
HP:0002376HP:0002376Developmental regression0DNM1 CL E G H1759616346Epileptic encephalopathy, early infantile, 31616346C4225357OMIM17652972602377
HP:0002376HP:0002376Developmental regression0EARS2 CL E G H124454614924Combined oxidative phosphorylation deficiency 12614924C3554079OMIM133629419612799
HP:0002376HP:0002376Developmental regression0EEF1A2 CL E G H1917442835ORPHA15753192602959
HP:0002376HP:0002376Developmental regression0EIF2B1 CL E G H1967603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11923257606686
HP:0002376HP:0002376Developmental regression0EIF2B2 CL E G H8892603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11903258606454
HP:0002376HP:0002376Developmental regression0EIF2B3 CL E G H8891603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11813259606273
HP:0002376HP:0002376Developmental regression0EIF2B4 CL E G H8890603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM12333260606687
HP:0002376HP:0002376Developmental regression0EIF2B5 CL E G H8893603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM15793261603945
HP:0002376HP:0002376Developmental regression0EPRS CL E G H2058617951LEUKODYSTROPHY, HYPOMYELINATING, 15617951CN244566OMIM13418138295
HP:0002376HP:0002376Developmental regression0ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA115723434126340
HP:0002376HP:0002376Developmental regression0ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA15233435133510
HP:0002376HP:0002376Developmental regression0ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA17263436133520
HP:0002376HP:0002376Developmental regression0ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA14913437133530
HP:0002376HP:0002376Developmental regression0ETHE1 CL E G H2347451188ORPHA133823287608451
HP:0002376HP:0002376Developmental regression0ETHE1 CL E G H23474602473Ethylmalonic encephalopathy602473C1865349OMIM133823287608451
HP:0002376HP:0002376Developmental regression0FGF12 CL E G H2257442835ORPHA12593668601513
HP:0002376HP:0002376Developmental regression0FGF12 CL E G H2257617166Epileptic encephalopathy, early infantile, 47617166C4310685OMIM12593668601513
HP:0002376HP:0002376Developmental regression0FOLR1 CL E G H2348613068Cerebral folate deficiency613068C2751584OMIM12563791136430
HP:0002376HP:0002376Developmental regression0FOXG1 CL E G H22903095ORPHA17253811164874
HP:0002376HP:0002376Developmental regression0FOXG1 CL E G H2290261144ORPHA17253811164874
HP:0002376HP:0002376Developmental regression0FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM17253811164874
HP:0002376HP:0002376Developmental regression0FRRS1L CL E G H23732616981Epileptic encephalopathy, early infantile, 37616981C4310770OMIM14021362604574
HP:0002376HP:0002376Developmental regression0GABBR2 CL E G H95683095ORPHA18484507607340
HP:0002376HP:0002376Developmental regression0GABBR2 CL E G H9568617903NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS617903CN870852OMIM18484507607340
HP:0002376HP:0002376Developmental regression0GABRB1 CL E G H2560617153Epileptic encephalopathy, early infantile, 45617153C4310691OMIM12754081137190
HP:0002376HP:0002376Developmental regression0GABRB2 CL E G H2561442835ORPHA14944082600232
HP:0002376HP:0002376Developmental regression0GALC CL E G H2581245200Galactosylceramide beta-galactosidase deficiency245200C0023521OMIM111854115606890
HP:0002376HP:0002376Developmental regression0GFAP CL E G H2670203450Alexander's disease203450C0270726OMIM14554235137780
HP:0002376HP:0002376Developmental regression0GM2A CL E G H2760309246ORPHA12124367613109
HP:0002376HP:0002376Developmental regression0GRIN2B CL E G H29043451Meier Blumberg Imahorn syndromeORPHA113534586138252
HP:0002376HP:0002376Developmental regression0GRIN2D CL E G H2906442835ORPHA18234588602717
HP:0002376HP:0002376Developmental regression0GUF1 CL E G H605583451Meier Blumberg Imahorn syndromeORPHA130925799617064
HP:0002376HP:0002376Developmental regression0HACE1 CL E G H57531616756Spastic paraplegia and psychomotor retardation with or without seizures616756C4225215OMIM122721033610876
HP:0002376HP:0002376Developmental regression0HCN1 CL E G H348980442835ORPHA17964845602780
HP:0002376HP:0002376Developmental regression0HIBCH CL E G H26275250620Beta-hydroxyisobutyryl-CoA deacylase deficiency250620C0342738OMIM12354908610690
HP:0002376HP:0002376Developmental regression0HNRNPH2 CL E G H3188300986Mental retardation, X-linked, syndromic, Bain type300986C4310814OMIM11965042300610
HP:0002376HP:0002376Developmental regression0HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12564800300256
HP:0002376HP:0002376Developmental regression0HTT CL E G H306439946,XX testicular disorder of sex developmentC2936420ORPHA17604851613004
HP:0002376HP:0002376Developmental regression0HTT CL E G H3064617435Lopes-Maciel-Rodan syndrome617435C4479491OMIM17604851613004
HP:0002376HP:0002376Developmental regression0IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM127127302615316
HP:0002376HP:0002376Developmental regression0IFIH1 CL E G H6413551ORPHA1117018873606951
HP:0002376HP:0002376Developmental regression0IRF2BPL CL E G H64207618088NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES618088CN252701OMIM131214282611720
HP:0002376HP:0002376Developmental regression0IRX5 CL E G H10265611174Hamamy syndrome611174C1970027OMIM110414361606195
HP:0002376HP:0002376Developmental regression0ISCA1 CL E G H81689617613MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5617613C4539919OMIM16028660611006
HP:0002376HP:0002376Developmental regression0KCNA2 CL E G H3737442835ORPHA14016220176262
HP:0002376HP:0002376Developmental regression0KCNB1 CL E G H3745442835ORPHA16356231600397
HP:0002376HP:0002376Developmental regression0KCNT1 CL E G H57582614959Early infantile epileptic encephalopathy 14614959C3554195OMIM1200018865608167
HP:0002376HP:0002376Developmental regression0KCNT2 CL E G H343450617771EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 57617771C4540411OMIM114718866610044
HP:0002376HP:0002376Developmental regression0KCTD7 CL E G H154881263516ORPHA142721957611725
HP:0002376HP:0002376Developmental regression0L2HGDH CL E G H79944236792L-2-hydroxyglutaric aciduria236792C1855995OMIM125320499609584
HP:0002376HP:0002376Developmental regression0LMBRD1 CL E G H5578879284ORPHA127623038612625
HP:0002376HP:0002376Developmental regression0LYRM7 CL E G H90624615838Mitochondrial complex III deficiency, nuclear type 8615838C4014440OMIM19228072615831
HP:0002376HP:0002376Developmental regression0MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA130915455300294
HP:0002376HP:0002376Developmental regression0MECP2 CL E G H42043095ORPHA119256990300005
HP:0002376HP:0002376Developmental regression0MECP2 CL E G H4204312750Rett syndrome312750C0035372OMIM119256990300005
HP:0002376HP:0002376Developmental regression0MRPS34 CL E G H65993617664COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32617664C4540029OMIM113816618611994
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 H466879279ORPHA12307631104170
HP:0002376HP:0002376Developmental regression0NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM12307631104170
HP:0002376HP:0002376Developmental regression0NAXE CL E G H128240617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy617186C4310675OMIM114618453608862
HP:0002376HP:0002376Developmental regression0NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM14247707157655
HP:0002376HP:0002376Developmental regression0NDUFS2 CL E G H4720618228MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6618228OMIM12477708602985
HP:0002376HP:0002376Developmental regression0NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0002376HP:0002376Developmental regression0NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM12157714601825
HP:0002376HP:0002376Developmental regression0NDUFV1 CL E G H4723618225MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4618225OMIM13157716161015
HP:0002376HP:0002376Developmental regression0NDUFV2 CL E G H4729618229MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7618229OMIM12297717600532
HP:0002376HP:0002376Developmental regression0NECAP1 CL E G H25977442835ORPHA122124539611623
HP:0002376HP:0002376Developmental regression0NOTCH3 CL E G H4854136ORPHA113437883600276
HP:0002376HP:0002376Developmental regression0NRXN1 CL E G H9378614325Pitt-Hopkins-like syndrome 2614325C3280479OMIM120658008600565
HP:0002376HP:0002376Developmental regression0NTNG1 CL E G H228543095ORPHA15723319608818
HP:0002376HP:0002376Developmental regression0NTRK2 CL E G H4915442835ORPHA15098032600456
HP:0002376HP:0002376Developmental regression0NTRK2 CL E G H49153451Meier Blumberg Imahorn syndromeORPHA15098032600456
HP:0002376HP:0002376Developmental regression0NUP62 CL E G H23636225154ORPHA11618066605815
HP:0002376HP:0002376Developmental regression0NUP62 CL E G H23636271930Striatonigral degeneration infantile271930C0795996OMIM11618066605815
HP:0002376HP:0002376Developmental regression0NUS1 CL E G H116150442835ORPHA132621042610463
HP:0002376HP:0002376Developmental regression0PCDH19 CL E G H57526300088Early infantile epileptic encephalopathy 9300088C1848137OMIM1129814270300460
HP:0002376HP:0002376Developmental regression0PEX1 CL E G H518944MYBPC1-related conditionORPHA115378850602136
HP:0002376HP:0002376Developmental regression0PEX10 CL E G H519244MYBPC1-related conditionORPHA18038851602859
HP:0002376HP:0002376Developmental regression0PEX11B CL E G H879944MYBPC1-related conditionORPHA14158853603867
HP:0002376HP:0002376Developmental regression0PEX12 CL E G H519344MYBPC1-related conditionORPHA14598854601758
HP:0002376HP:0002376Developmental regression0PEX13 CL E G H519444MYBPC1-related conditionORPHA14978855601789
HP:0002376HP:0002376Developmental regression0PEX14 CL E G H519544MYBPC1-related conditionORPHA14748856601791
HP:0002376HP:0002376Developmental regression0PEX16 CL E G H940944MYBPC1-related conditionORPHA14708857603360
HP:0002376HP:0002376Developmental regression0PEX19 CL E G H582444MYBPC1-related conditionORPHA13799713600279
HP:0002376HP:0002376Developmental regression0PEX2 CL E G H582844MYBPC1-related conditionORPHA14639717170993
HP:0002376HP:0002376Developmental regression0PEX26 CL E G H5567044MYBPC1-related conditionORPHA152222965608666
HP:0002376HP:0002376Developmental regression0PEX3 CL E G H850444MYBPC1-related conditionORPHA13588858603164
HP:0002376HP:0002376Developmental regression0PEX5 CL E G H583044MYBPC1-related conditionORPHA18589719600414
HP:0002376HP:0002376Developmental regression0PEX6 CL E G H519044MYBPC1-related conditionORPHA114588859601498
HP:0002376HP:0002376Developmental regression0PEX7 CL E G H5191773ORPHA15508860601757
HP:0002376HP:0002376Developmental regression0PHACTR1 CL E G H2216923451Meier Blumberg Imahorn syndromeORPHA19720990608723
HP:0002376HP:0002376Developmental regression0PHYH CL E G H5264773ORPHA13828940602026
HP:0002376HP:0002376Developmental regression0PIGA CL E G H52773451Meier Blumberg Imahorn syndromeORPHA14838957311770
HP:0002376HP:0002376Developmental regression0PIGT CL E G H51604615398Multiple congenital anomalies-hypotonia-seizures syndrome 3615398C3809356OMIM127714938610272
HP:0002376HP:0002376Developmental regression0PIGY CL E G H84992616809Hyperphosphatasia with mental retardation syndrome 6616809C4225201OMIM14028213610662
HP:0002376HP:0002376Developmental regression0PLA2G6 CL E G H839835069ORPHA17759039603604
HP:0002376HP:0002376Developmental regression0PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM17759039603604
HP:0002376HP:0002376Developmental regression0PLCB1 CL E G H232363451Meier Blumberg Imahorn syndromeORPHA1110715917607120
HP:0002376HP:0002376Developmental regression0PMPCB CL E G H9512617954MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6617954CN244567OMIM11339119603131
HP:0002376HP:0002376Developmental regression0POLG CL E G H5428726ORPHA123249179174763
HP:0002376HP:0002376Developmental regression0POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM123249179174763
HP:0002376HP:0002376Developmental regression0POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0002376HP:0002376Developmental regression0PPP3CA CL E G H5530442835ORPHA13519314114105
HP:0002376HP:0002376Developmental regression0PPP3CA CL E G H5530617711EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1617711C4540199OMIM13519314114105
HP:0002376HP:0002376Developmental regression0PSAP CL E G H5660309256ORPHA17729498176801
HP:0002376HP:0002376Developmental regression0PSAP CL E G H5660309263ORPHA17729498176801
HP:0002376HP:0002376Developmental regression0PSAP CL E G H5660309271ORPHA17729498176801
HP:0002376HP:0002376Developmental regression0PSAP CL E G H5660249900Sphingolipid activator protein 1 deficiency249900C0268262OMIM17729498176801
HP:0002376HP:0002376Developmental regression0RANBP2 CL E G H590388619ORPHA113729848601181
HP:0002376HP:0002376Developmental regression0RHOBTB2 CL E G H23221618004EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64618004CN248512OMIM159218756607352
HP:0002376HP:0002376Developmental regression0RNASEH2A CL E G H1053551ORPHA140418518606034
HP:0002376HP:0002376Developmental regression0RNASEH2B CL E G H7962151ORPHA142625671610326
HP:0002376HP:0002376Developmental regression0RNASEH2C CL E G H8415351ORPHA130724116610330
HP:0002376HP:0002376Developmental regression0ROGDI CL E G H796411946ORPHA156029478614574
HP:0002376HP:0002376Developmental regression0SAMHD1 CL E G H2593951ORPHA174615925606754
HP:0002376HP:0002376Developmental regression0SCN2A CL E G H63263451Meier Blumberg Imahorn syndromeORPHA1228010588182390
HP:0002376HP:0002376Developmental regression0SCN3A CL E G H6328442835ORPHA1142010590182391
HP:0002376HP:0002376Developmental regression0SCN8A CL E G H6334442835ORPHA1179910596600702
HP:0002376HP:0002376Developmental regression0SCN8A CL E G H6334614558Early infantile epileptic encephalopathy 13614558C3281191OMIM1179910596600702
HP:0002376HP:0002376Developmental regression0SDHA CL E G H63893208ORPHA1250310680600857
HP:0002376HP:0002376Developmental regression0SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1250310680600857
HP:0002376HP:0002376Developmental regression0SDHAF1 CL E G H6440963208ORPHA17733867612848
HP:0002376HP:0002376Developmental regression0SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM17733867612848
HP:0002376HP:0002376Developmental regression0SDHB CL E G H63903208ORPHA1124910681185470
HP:0002376HP:0002376Developmental regression0SDHD CL E G H63923208ORPHA168610683602690
HP:0002376HP:0002376Developmental regression0SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM168610683602690
HP:0002376HP:0002376Developmental regression0SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0002376HP:0002376Developmental regression0SGPL1 CL E G H8879617575Nephrotic syndrome type 14617575C4539778OMIM121810817603729
HP:0002376HP:0002376Developmental regression0SIK1 CL E G H1500943451Meier Blumberg Imahorn syndromeORPHA190911142605705
HP:0002376HP:0002376Developmental regression0SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM140019353607776
HP:0002376HP:0002376Developmental regression0SLC12A5 CL E G H57468616645Early infantile epileptic encephalopathy 34616645C4225257OMIM179113818606726
HP:0002376HP:0002376Developmental regression0SLC13A5 CL E G H2841111946ORPHA168523089608305
HP:0002376HP:0002376Developmental regression0SLC13A5 CL E G H284111442835ORPHA168523089608305
HP:0002376HP:0002376Developmental regression0SLC1A2 CL E G H6506442835ORPHA135910940600300
HP:0002376HP:0002376Developmental regression0SLC29A3 CL E G H553151782ORPHA144723096612373
HP:0002376HP:0002376Developmental regression0SLC2A3 CL E G H651539946,XX testicular disorder of sex developmentC2936420ORPHA19011007138170
HP:0002376HP:0002376Developmental regression0SLC30A9 CL E G H10463617595Birk-Landau-Perez syndrome617595C4539828OMIM1451329604604
HP:0002376HP:0002376Developmental regression0SLC39A14 CL E G H23516617013Hypermanganesemia with dystonia 2617013C4310765OMIM127020858608736
HP:0002376HP:0002376Developmental regression0SLC6A1 CL E G H65291942ORPHA180911042137165
HP:0002376HP:0002376Developmental regression0SLC9A6 CL E G H1047985278ORPHA161211079300231
HP:0002376HP:0002376Developmental regression0SON CL E G H6651617140ZTTK syndrome617140C4310696OMIM1103111183182465
HP:0002376HP:0002376Developmental regression0SPTAN1 CL E G H67093451Meier Blumberg Imahorn syndromeORPHA1226711273182810
HP:0002376HP:0002376Developmental regression0ST3GAL3 CL E G H64873451Meier Blumberg Imahorn syndromeORPHA134010866606494
HP:0002376HP:0002376Developmental regression0ST3GAL5 CL E G H8869370938ORPHA137310872604402
HP:0002376HP:0002376Developmental regression0ST3GAL5 CL E G H8869609056Amish infantile epilepsy syndrome609056C1836824OMIM137310872604402
HP:0002376HP:0002376Developmental regression0STXBP1 CL E G H68123095ORPHA1101711444602926
HP:0002376HP:0002376Developmental regression0STXBP1 CL E G H6812442835ORPHA1101711444602926
HP:0002376HP:0002376Developmental regression0STXBP1 CL E G H6812612164Early infantile epileptic encephalopathy 4612164C2677326OMIM1101711444602926
HP:0002376HP:0002376Developmental regression0STXBP1 CL E G H68123451Meier Blumberg Imahorn syndromeORPHA1101711444602926
HP:0002376HP:0002376Developmental regression0SUMF1 CL E G H285362585ORPHA174620376607939
HP:0002376HP:0002376Developmental regression0SYNGAP1 CL E G H8831442835ORPHA1133511497603384
HP:0002376HP:0002376Developmental regression0SYNGAP1 CL E G H8831612621Mental retardation, autosomal dominant 5612621C2675473OMIM1133511497603384
HP:0002376HP:0002376Developmental regression0SYNJ1 CL E G H8867442835ORPHA1131511503604297
HP:0002376HP:0002376Developmental regression0SZT2 CL E G H23334442835ORPHA1286229040615463
HP:0002376HP:0002376Developmental regression0TBC1D24 CL E G H57465352596ORPHA189329203613577
HP:0002376HP:0002376Developmental regression0TBC1D24 CL E G H57465352582ORPHA189329203613577
HP:0002376HP:0002376Developmental regression0TBC1D24 CL E G H57465615338Early infantile epileptic encephalopathy 16615338C3809173OMIM189329203613577
HP:0002376HP:0002376Developmental regression0TBCD CL E G H6904617193Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum617193C4310671OMIM170511581604649
HP:0002376HP:0002376Developmental regression0TBCE CL E G H6905496756ORPHA145611582604934
HP:0002376HP:0002376Developmental regression0TK2 CL E G H7084254875ORPHA144211831188250
HP:0002376HP:0002376Developmental regression0TPP1 CL E G H1200204500Ceroid lipofuscinosis neuronal 2204500C1876161OMIM110232073607998
HP:0002376HP:0002376Developmental regression0TRAK1 CL E G H22906442835ORPHA120829947608112
HP:0002376HP:0002376Developmental regression0TRAK1 CL E G H22906618201EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68618201OMIM120829947608112
HP:0002376HP:0002376Developmental regression0TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM120224284614139
HP:0002376HP:0002376Developmental regression0TREM2 CL E G H542092770ORPHA115417761605086
HP:0002376HP:0002376Developmental regression0TREX1 CL E G H1127751ORPHA141812269606609
HP:0002376HP:0002376Developmental regression0TUFM CL E G H7284610678Combined oxidative phosphorylation deficiency 4610678C1857682OMIM132312420602389
HP:0002376HP:0002376Developmental regression0TYROBP CL E G H73052770ORPHA111012449604142
HP:0002376HP:0002376Developmental regression0UBA5 CL E G H79876442835ORPHA122323230610552
HP:0002376HP:0002376Developmental regression0UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM18412511600673
HP:0002376HP:0002376Developmental regression0VAC14 CL E G H55697617054Striatonigral degeneration, childhood-onset617054C4310743OMIM136725507604632
HP:0002376HP:0002376Developmental regression0VPS13A CL E G H232302388ORPHA123621908605978
HP:0002376HP:0002376Developmental regression0WWOX CL E G H51741442835ORPHA1110212799605131
HP:0002376HP:0002376Developmental regression0XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA132112814611153
HP:0002376HP:0002376Developmental regression0XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA178812816613208
HP:0002376HP:0002376Developmental regression0YWHAG CL E G H7532442835ORPHA118912852605356
HP:0002376HP:0002376Developmental regression0ZBTB20 CL E G H261373042ORPHA125213503606025
HP:0002376HP:0033044Motor regression1AARS CL E G H16442835ORPHA120601065
HP:0002376HP:0033044Motor regression1ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM17316066617036
HP:0002376HP:0033044Motor regression1ACOX1 CL E G H512971ORPHA1665119609751
HP:0002376HP:0033044Motor regression1ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1665119609751
HP:0002376HP:0033044Motor regression1ADA2 CL E G H51816820ORPHA15331839607575
HP:0002376HP:0033044Motor regression1ADAR CL E G H103225154ORPHA11122225146920
HP:0002376HP:0033044Motor regression1ADAR CL E G H10351ORPHA11122225146920
HP:0002376HP:0033044Motor regression1ADPRHL2 CL E G H54936618170NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES618170OMIM121304610624
HP:0002376HP:0033044Motor regression1AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1509318613228
HP:0002376HP:0033044Motor regression1AGTPBP1 CL E G H23287618276618276618276OMIM110517258606830
HP:0002376HP:0033044Motor regression1AHCY CL E G H19188618ORPHA1255343180960
HP:0002376HP:0033044Motor regression1AIFM1 CL E G H9131238329ORPHA15758768300169
HP:0002376HP:0033044Motor regression1AIFM1 CL E G H9131300816Combined oxidative phosphorylation deficiency 6300816C3151753OMIM15758768300169
HP:0002376HP:0033044Motor regression1AP3B2 CL E G H8120442835ORPHA1690567602166
HP:0002376HP:0033044Motor regression1APOPT1 CL E G H84334436271ORPHA119720492616003
HP:0002376HP:0033044Motor regression1ARSA CL E G H410309256ORPHA11140713607574
HP:0002376HP:0033044Motor regression1ARSA CL E G H410309263ORPHA11140713607574
HP:0002376HP:0033044Motor regression1ARSA CL E G H410309271ORPHA11140713607574
HP:0002376HP:0033044Motor regression1ARV1 CL E G H64801442835ORPHA18929561611647
HP:0002376HP:0033044Motor regression1ARX CL E G H1703023451Meier Blumberg Imahorn syndromeORPHA181018060300382
HP:0002376HP:0033044Motor regression1ASPA CL E G H443271900Spongy degeneration of central nervous system271900C0206307OMIM1388756608034
HP:0002376HP:0033044Motor regression1ATP6V1A CL E G H523442835ORPHA1229851607027
HP:0002376HP:0033044Motor regression1ATP7A CL E G H538565ORPHA11751869300011
HP:0002376HP:0033044Motor regression1BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM110224415613183
HP:0002376HP:0033044Motor regression1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0002376HP:0033044Motor regression1C12orf65 CL E G H91574613559Combined oxidative phosphorylation deficiency 7613559C3150801OMIM126784613541
HP:0002376HP:0033044Motor regression1CACNA1A CL E G H773442835ORPHA132481388601011
HP:0002376HP:0033044Motor regression1CAD CL E G H790616457Epileptic encephalopathy, early infantile, 50616457C4225320OMIM113201424114010
HP:0002376HP:0033044Motor regression1CDKL5 CL E G H67923095ORPHA1173811411300203
HP:0002376HP:0033044Motor regression1CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1173811411300203
HP:0002376HP:0033044Motor regression1CDKL5 CL E G H67923451Meier Blumberg Imahorn syndromeORPHA1173811411300203
HP:0002376HP:0033044Motor regression1CHD2 CL E G H11061942ORPHA118381917602119
HP:0002376HP:0033044Motor regression1CHD2 CL E G H1106615369Epileptic encephalopathy, childhood-onset615369C3809278OMIM118381917602119
HP:0002376HP:0033044Motor regression1CIC CL E G H23152617600MENTAL RETARDATION, AUTOSOMAL DOMINANT 45617600C4539848OMIM148014214612082
HP:0002376HP:0033044Motor regression1CLN5 CL E G H1203256731Ceroid lipofuscinosis neuronal 5256731C1850442OMIM17022076608102
HP:0002376HP:0033044Motor regression1CLN8 CL E G H20551947ORPHA16402079607837
HP:0002376HP:0033044Motor regression1CLN8 CL E G H2055600143Ceroid lipofuscinosis neuronal 8600143C1838570OMIM16402079607837
HP:0002376HP:0033044Motor regression1CLTC CL E G H1213442835ORPHA16452092118955
HP:0002376HP:0033044Motor regression1CNKSR2 CL E G H22866442835ORPHA130619701300724
HP:0002376HP:0033044Motor regression1CNPY3 CL E G H106953451Meier Blumberg Imahorn syndromeORPHA14411968610774
HP:0002376HP:0033044Motor regression1COASY CL E G H80347615643Neurodegeneration with brain iron accumulation 6615643C3810230OMIM128129932609855
HP:0002376HP:0033044Motor regression1COQ8A CL E G H56997139485ORPHA169916812606980
HP:0002376HP:0033044Motor regression1CPLX1 CL E G H10815352582ORPHA12062309605032
HP:0002376HP:0033044Motor regression1CYFIP2 CL E G H26999442835ORPHA166813760606323
HP:0002376HP:0033044Motor regression1CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0002376HP:0033044Motor regression1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA11422718600811
HP:0002376HP:0033044Motor regression1DHDDS CL E G H79947442835ORPHA143420603608172
HP:0002376HP:0033044Motor regression1DNM1 CL E G H1759442835ORPHA17652972602377
HP:0002376HP:0033044Motor regression1DNM1 CL E G H1759616346Epileptic encephalopathy, early infantile, 31616346C4225357OMIM17652972602377
HP:0002376HP:0033044Motor regression1EARS2 CL E G H124454614924Combined oxidative phosphorylation deficiency 12614924C3554079OMIM133629419612799
HP:0002376HP:0033044Motor regression1EEF1A2 CL E G H1917442835ORPHA15753192602959
HP:0002376HP:0033044Motor regression1EIF2B1 CL E G H1967603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11923257606686
HP:0002376HP:0033044Motor regression1EIF2B2 CL E G H8892603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11903258606454
HP:0002376HP:0033044Motor regression1EIF2B3 CL E G H8891603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11813259606273
HP:0002376HP:0033044Motor regression1EIF2B4 CL E G H8890603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM12333260606687
HP:0002376HP:0033044Motor regression1EIF2B5 CL E G H8893603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM15793261603945
HP:0002376HP:0033044Motor regression1EPRS CL E G H2058617951LEUKODYSTROPHY, HYPOMYELINATING, 15617951CN244566OMIM13418138295
HP:0002376HP:0033044Motor regression1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA115723434126340
HP:0002376HP:0033044Motor regression1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA15233435133510
HP:0002376HP:0033044Motor regression1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA17263436133520
HP:0002376HP:0033044Motor regression1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA14913437133530
HP:0002376HP:0033044Motor regression1ETHE1 CL E G H2347451188ORPHA133823287608451
HP:0002376HP:0033044Motor regression1ETHE1 CL E G H23474602473Ethylmalonic encephalopathy602473C1865349OMIM133823287608451
HP:0002376HP:0033044Motor regression1FGF12 CL E G H2257442835ORPHA12593668601513
HP:0002376HP:0033044Motor regression1FGF12 CL E G H2257617166Epileptic encephalopathy, early infantile, 47617166C4310685OMIM12593668601513
HP:0002376HP:0033044Motor regression1FOLR1 CL E G H2348613068Cerebral folate deficiency613068C2751584OMIM12563791136430
HP:0002376HP:0033044Motor regression1FOXG1 CL E G H2290261144ORPHA17253811164874
HP:0002376HP:0033044Motor regression1FOXG1 CL E G H22903095ORPHA17253811164874
HP:0002376HP:0033044Motor regression1FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM17253811164874
HP:0002376HP:0033044Motor regression1FRRS1L CL E G H23732616981Epileptic encephalopathy, early infantile, 37616981C4310770OMIM14021362604574
HP:0002376HP:0033044Motor regression1GABBR2 CL E G H95683095ORPHA18484507607340
HP:0002376HP:0033044Motor regression1GABBR2 CL E G H9568617903NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS617903CN870852OMIM18484507607340
HP:0002376HP:0033044Motor regression1GABRB1 CL E G H2560617153Epileptic encephalopathy, early infantile, 45617153C4310691OMIM12754081137190
HP:0002376HP:0033044Motor regression1GABRB2 CL E G H2561442835ORPHA14944082600232
HP:0002376HP:0033044Motor regression1GALC CL E G H2581245200Galactosylceramide beta-galactosidase deficiency245200C0023521OMIM111854115606890
HP:0002376HP:0033044Motor regression1GFAP CL E G H2670203450Alexander's disease203450C0270726OMIM14554235137780
HP:0002376HP:0033044Motor regression1GM2A CL E G H2760309246ORPHA12124367613109
HP:0002376HP:0033044Motor regression1GRIN2B CL E G H29043451Meier Blumberg Imahorn syndromeORPHA113534586138252
HP:0002376HP:0033044Motor regression1GRIN2D CL E G H2906442835ORPHA18234588602717
HP:0002376HP:0033044Motor regression1GUF1 CL E G H605583451Meier Blumberg Imahorn syndromeORPHA130925799617064
HP:0002376HP:0033044Motor regression1HACE1 CL E G H57531616756Spastic paraplegia and psychomotor retardation with or without seizures616756C4225215OMIM122721033610876
HP:0002376HP:0033044Motor regression1HCN1 CL E G H348980442835ORPHA17964845602780
HP:0002376HP:0033044Motor regression1HIBCH CL E G H26275250620Beta-hydroxyisobutyryl-CoA deacylase deficiency250620C0342738OMIM12354908610690
HP:0002376HP:0033044Motor regression1HNRNPH2 CL E G H3188300986Mental retardation, X-linked, syndromic, Bain type300986C4310814OMIM11965042300610
HP:0002376HP:0033044Motor regression1HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12564800300256
HP:0002376HP:0033044Motor regression1HTT CL E G H306439946,XX testicular disorder of sex developmentC2936420ORPHA17604851613004
HP:0002376HP:0033044Motor regression1HTT CL E G H3064617435Lopes-Maciel-Rodan syndrome617435C4479491OMIM17604851613004
HP:0002376HP:0033044Motor regression1IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM127127302615316
HP:0002376HP:0033044Motor regression1IFIH1 CL E G H6413551ORPHA1117018873606951
HP:0002376HP:0033044Motor regression1IRF2BPL CL E G H64207618088NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES618088CN252701OMIM131214282611720
HP:0002376HP:0033044Motor regression1IRX5 CL E G H10265611174Hamamy syndrome611174C1970027OMIM110414361606195
HP:0002376HP:0033044Motor regression1ISCA1 CL E G H81689617613MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5617613C4539919OMIM16028660611006
HP:0002376HP:0033044Motor regression1KCNA2 CL E G H3737442835ORPHA14016220176262
HP:0002376HP:0033044Motor regression1KCNB1 CL E G H3745442835ORPHA16356231600397
HP:0002376HP:0033044Motor regression1KCNT1 CL E G H57582614959Early infantile epileptic encephalopathy 14614959C3554195OMIM1200018865608167
HP:0002376HP:0033044Motor regression1KCNT2 CL E G H343450617771EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 57617771C4540411OMIM114718866610044
HP:0002376HP:0033044Motor regression1KCTD7 CL E G H154881263516ORPHA142721957611725
HP:0002376HP:0033044Motor regression1L2HGDH CL E G H79944236792L-2-hydroxyglutaric aciduria236792C1855995OMIM125320499609584
HP:0002376HP:0033044Motor regression1LMBRD1 CL E G H5578879284ORPHA127623038612625
HP:0002376HP:0033044Motor regression1LYRM7 CL E G H90624615838Mitochondrial complex III deficiency, nuclear type 8615838C4014440OMIM19228072615831
HP:0002376HP:0033044Motor regression1MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA130915455300294
HP:0002376HP:0033044Motor regression1MECP2 CL E G H42043095ORPHA119256990300005
HP:0002376HP:0033044Motor regression1MECP2 CL E G H4204312750Rett syndrome312750C0035372OMIM119256990300005
HP:0002376HP:0033044Motor regression1MRPS34 CL E G H65993617664COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32617664C4540029OMIM113816618611994
HP:0002376HP:0033044Motor regression1MT-ATP6 CL E G H4508225154ORPHA17414516060
HP:0002376HP:0033044Motor regression1MT-CO1 CL E G H4512550ORPHA17419516030
HP:0002376HP:0033044Motor regression1MT-CO2 CL E G H4513550ORPHA17421516040
HP:0002376HP:0033044Motor regression1MT-CO3 CL E G H4514550ORPHA17422516050
HP:0002376HP:0033044Motor regression1MT-ND1 CL E G H4535550ORPHA17455516000
HP:0002376HP:0033044Motor regression1MT-ND4 CL E G H4538550ORPHA17459516003
HP:0002376HP:0033044Motor regression1MT-ND5 CL E G H4540550ORPHA17461516005
HP:0002376HP:0033044Motor regression1MT-ND6 CL E G H4541550ORPHA17462516006
HP:0002376HP:0033044Motor regression1MT-TF CL E G H4558550ORPHA17481590070
HP:0002376HP:0033044Motor regression1MT-TH CL E G H4564550ORPHA17487590040
HP:0002376HP:0033044Motor regression1MT-TL1 CL E G H4567550ORPHA17490590050
HP:0002376HP:0033044Motor regression1MT-TQ CL E G H4572550ORPHA17495590030
HP:0002376HP:0033044Motor regression1MT-TS1 CL E G H4574550ORPHA17497590080
HP:0002376HP:0033044Motor regression1MT-TS2 CL E G H4575550ORPHA17498590085
HP:0002376HP:0033044Motor regression1MT-TW CL E G H4578550ORPHA17501590095
HP:0002376HP:0033044Motor regression1NAGA CL E G H466879279ORPHA12307631104170
HP:0002376HP:0033044Motor regression1NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM12307631104170
HP:0002376HP:0033044Motor regression1NAXE CL E G H128240617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy617186C4310675OMIM114618453608862
HP:0002376HP:0033044Motor regression1NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM14247707157655
HP:0002376HP:0033044Motor regression1NDUFS2 CL E G H4720618228MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6618228OMIM12477708602985
HP:0002376HP:0033044Motor regression1NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0002376HP:0033044Motor regression1NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM12157714601825
HP:0002376HP:0033044Motor regression1NDUFV1 CL E G H4723618225MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4618225OMIM13157716161015
HP:0002376HP:0033044Motor regression1NDUFV2 CL E G H4729618229MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7618229OMIM12297717600532
HP:0002376HP:0033044Motor regression1NECAP1 CL E G H25977442835ORPHA122124539611623
HP:0002376HP:0033044Motor regression1NOTCH3 CL E G H4854136ORPHA113437883600276
HP:0002376HP:0033044Motor regression1NRXN1 CL E G H9378614325Pitt-Hopkins-like syndrome 2614325C3280479OMIM120658008600565
HP:0002376HP:0033044Motor regression1NTNG1 CL E G H228543095ORPHA15723319608818
HP:0002376HP:0033044Motor regression1NTRK2 CL E G H4915442835ORPHA15098032600456
HP:0002376HP:0033044Motor regression1NTRK2 CL E G H49153451Meier Blumberg Imahorn syndromeORPHA15098032600456
HP:0002376HP:0033044Motor regression1NUP62 CL E G H23636225154ORPHA11618066605815
HP:0002376HP:0033044Motor regression1NUP62 CL E G H23636271930Striatonigral degeneration infantile271930C0795996OMIM11618066605815
HP:0002376HP:0033044Motor regression1NUS1 CL E G H116150442835ORPHA132621042610463
HP:0002376HP:0033044Motor regression1PCDH19 CL E G H57526300088Early infantile epileptic encephalopathy 9300088C1848137OMIM1129814270300460
HP:0002376HP:0033044Motor regression1PEX1 CL E G H518944MYBPC1-related conditionORPHA115378850602136
HP:0002376HP:0033044Motor regression1PEX10 CL E G H519244MYBPC1-related conditionORPHA18038851602859
HP:0002376HP:0033044Motor regression1PEX11B CL E G H879944MYBPC1-related conditionORPHA14158853603867
HP:0002376HP:0033044Motor regression1PEX12 CL E G H519344MYBPC1-related conditionORPHA14598854601758
HP:0002376HP:0033044Motor regression1PEX13 CL E G H519444MYBPC1-related conditionORPHA14978855601789
HP:0002376HP:0033044Motor regression1PEX14 CL E G H519544MYBPC1-related conditionORPHA14748856601791
HP:0002376HP:0033044Motor regression1PEX16 CL E G H940944MYBPC1-related conditionORPHA14708857603360
HP:0002376HP:0033044Motor regression1PEX19 CL E G H582444MYBPC1-related conditionORPHA13799713600279
HP:0002376HP:0033044Motor regression1PEX2 CL E G H582844MYBPC1-related conditionORPHA14639717170993
HP:0002376HP:0033044Motor regression1PEX26 CL E G H5567044MYBPC1-related conditionORPHA152222965608666
HP:0002376HP:0033044Motor regression1PEX3 CL E G H850444MYBPC1-related conditionORPHA13588858603164
HP:0002376HP:0033044Motor regression1PEX5 CL E G H583044MYBPC1-related conditionORPHA18589719600414
HP:0002376HP:0033044Motor regression1PEX6 CL E G H519044MYBPC1-related conditionORPHA114588859601498
HP:0002376HP:0033044Motor regression1PEX7 CL E G H5191773ORPHA15508860601757
HP:0002376HP:0033044Motor regression1PHACTR1 CL E G H2216923451Meier Blumberg Imahorn syndromeORPHA19720990608723
HP:0002376HP:0033044Motor regression1PHYH CL E G H5264773ORPHA13828940602026
HP:0002376HP:0033044Motor regression1PIGA CL E G H52773451Meier Blumberg Imahorn syndromeORPHA14838957311770
HP:0002376HP:0033044Motor regression1PIGT CL E G H51604615398Multiple congenital anomalies-hypotonia-seizures syndrome 3615398C3809356OMIM127714938610272
HP:0002376HP:0033044Motor regression1PIGY CL E G H84992616809Hyperphosphatasia with mental retardation syndrome 6616809C4225201OMIM14028213610662
HP:0002376HP:0033044Motor regression1PLA2G6 CL E G H839835069ORPHA17759039603604
HP:0002376HP:0033044Motor regression1PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM17759039603604
HP:0002376HP:0033044Motor regression1PLCB1 CL E G H232363451Meier Blumberg Imahorn syndromeORPHA1110715917607120
HP:0002376HP:0033044Motor regression1PMPCB CL E G H9512617954MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6617954CN244567OMIM11339119603131
HP:0002376HP:0033044Motor regression1POLG CL E G H5428726ORPHA123249179174763
HP:0002376HP:0033044Motor regression1POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM123249179174763
HP:0002376HP:0033044Motor regression1POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0002376HP:0033044Motor regression1PPP3CA CL E G H5530442835ORPHA13519314114105
HP:0002376HP:0033044Motor regression1PPP3CA CL E G H5530617711EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1617711C4540199OMIM13519314114105
HP:0002376HP:0033044Motor regression1PSAP CL E G H5660309256ORPHA17729498176801
HP:0002376HP:0033044Motor regression1PSAP CL E G H5660309263ORPHA17729498176801
HP:0002376HP:0033044Motor regression1PSAP CL E G H5660309271ORPHA17729498176801
HP:0002376HP:0033044Motor regression1PSAP CL E G H5660249900Sphingolipid activator protein 1 deficiency249900C0268262OMIM17729498176801
HP:0002376HP:0033044Motor regression1RANBP2 CL E G H590388619ORPHA113729848601181
HP:0002376HP:0033044Motor regression1RHOBTB2 CL E G H23221618004EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64618004CN248512OMIM159218756607352
HP:0002376HP:0033044Motor regression1RNASEH2A CL E G H1053551ORPHA140418518606034
HP:0002376HP:0033044Motor regression1RNASEH2B CL E G H7962151ORPHA142625671610326
HP:0002376HP:0033044Motor regression1RNASEH2C CL E G H8415351ORPHA130724116610330
HP:0002376HP:0033044Motor regression1ROGDI CL E G H796411946ORPHA156029478614574
HP:0002376HP:0033044Motor regression1SAMHD1 CL E G H2593951ORPHA174615925606754
HP:0002376HP:0033044Motor regression1SCN2A CL E G H63263451Meier Blumberg Imahorn syndromeORPHA1228010588182390
HP:0002376HP:0033044Motor regression1SCN3A CL E G H6328442835ORPHA1142010590182391
HP:0002376HP:0033044Motor regression1SCN8A CL E G H6334442835ORPHA1179910596600702
HP:0002376HP:0033044Motor regression1SCN8A CL E G H6334614558Early infantile epileptic encephalopathy 13614558C3281191OMIM1179910596600702
HP:0002376HP:0033044Motor regression1SDHA CL E G H63893208ORPHA1250310680600857
HP:0002376HP:0033044Motor regression1SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1250310680600857
HP:0002376HP:0033044Motor regression1SDHAF1 CL E G H6440963208ORPHA17733867612848
HP:0002376HP:0033044Motor regression1SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM17733867612848
HP:0002376HP:0033044Motor regression1SDHB CL E G H63903208ORPHA1124910681185470
HP:0002376HP:0033044Motor regression1SDHD CL E G H63923208ORPHA168610683602690
HP:0002376HP:0033044Motor regression1SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM168610683602690
HP:0002376HP:0033044Motor regression1SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0002376HP:0033044Motor regression1SGPL1 CL E G H8879617575Nephrotic syndrome type 14617575C4539778OMIM121810817603729
HP:0002376HP:0033044Motor regression1SIK1 CL E G H1500943451Meier Blumberg Imahorn syndromeORPHA190911142605705
HP:0002376HP:0033044Motor regression1SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM140019353607776
HP:0002376HP:0033044Motor regression1SLC12A5 CL E G H57468616645Early infantile epileptic encephalopathy 34616645C4225257OMIM179113818606726
HP:0002376HP:0033044Motor regression1SLC13A5 CL E G H284111442835ORPHA168523089608305
HP:0002376HP:0033044Motor regression1SLC13A5 CL E G H2841111946ORPHA168523089608305
HP:0002376HP:0033044Motor regression1SLC1A2 CL E G H6506442835ORPHA135910940600300
HP:0002376HP:0033044Motor regression1SLC29A3 CL E G H553151782ORPHA144723096612373
HP:0002376HP:0033044Motor regression1SLC2A3 CL E G H651539946,XX testicular disorder of sex developmentC2936420ORPHA19011007138170
HP:0002376HP:0033044Motor regression1SLC30A9 CL E G H10463617595Birk-Landau-Perez syndrome617595C4539828OMIM1451329604604
HP:0002376HP:0033044Motor regression1SLC39A14 CL E G H23516617013Hypermanganesemia with dystonia 2617013C4310765OMIM127020858608736
HP:0002376HP:0033044Motor regression1SLC6A1 CL E G H65291942ORPHA180911042137165
HP:0002376HP:0033044Motor regression1SLC9A6 CL E G H1047985278ORPHA161211079300231
HP:0002376HP:0033044Motor regression1SON CL E G H6651617140ZTTK syndrome617140C4310696OMIM1103111183182465
HP:0002376HP:0033044Motor regression1SPTAN1 CL E G H67093451Meier Blumberg Imahorn syndromeORPHA1226711273182810
HP:0002376HP:0033044Motor regression1ST3GAL3 CL E G H64873451Meier Blumberg Imahorn syndromeORPHA134010866606494
HP:0002376HP:0033044Motor regression1ST3GAL5 CL E G H8869370938ORPHA137310872604402
HP:0002376HP:0033044Motor regression1ST3GAL5 CL E G H8869609056Amish infantile epilepsy syndrome609056C1836824OMIM137310872604402
HP:0002376HP:0033044Motor regression1STXBP1 CL E G H6812442835ORPHA1101711444602926
HP:0002376HP:0033044Motor regression1STXBP1 CL E G H68123095ORPHA1101711444602926
HP:0002376HP:0033044Motor regression1STXBP1 CL E G H6812612164Early infantile epileptic encephalopathy 4612164C2677326OMIM1101711444602926
HP:0002376HP:0033044Motor regression1STXBP1 CL E G H68123451Meier Blumberg Imahorn syndromeORPHA1101711444602926
HP:0002376HP:0033044Motor regression1SUMF1 CL E G H285362585ORPHA174620376607939
HP:0002376HP:0033044Motor regression1SYNGAP1 CL E G H8831442835ORPHA1133511497603384
HP:0002376HP:0033044Motor regression1SYNGAP1 CL E G H8831612621Mental retardation, autosomal dominant 5612621C2675473OMIM1133511497603384
HP:0002376HP:0033044Motor regression1SYNJ1 CL E G H8867442835ORPHA1131511503604297
HP:0002376HP:0033044Motor regression1SZT2 CL E G H23334442835ORPHA1286229040615463
HP:0002376HP:0033044Motor regression1TBC1D24 CL E G H57465352582ORPHA189329203613577
HP:0002376HP:0033044Motor regression1TBC1D24 CL E G H57465352596ORPHA189329203613577
HP:0002376HP:0033044Motor regression1TBC1D24 CL E G H57465615338Early infantile epileptic encephalopathy 16615338C3809173OMIM189329203613577
HP:0002376HP:0033044Motor regression1TBCD CL E G H6904617193Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum617193C4310671OMIM170511581604649
HP:0002376HP:0033044Motor regression1TBCE CL E G H6905496756ORPHA145611582604934
HP:0002376HP:0033044Motor regression1TK2 CL E G H7084254875ORPHA144211831188250
HP:0002376HP:0033044Motor regression1TPP1 CL E G H1200204500Ceroid lipofuscinosis neuronal 2204500C1876161OMIM110232073607998
HP:0002376HP:0033044Motor regression1TRAK1 CL E G H22906442835ORPHA120829947608112
HP:0002376HP:0033044Motor regression1TRAK1 CL E G H22906618201EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68618201OMIM120829947608112
HP:0002376HP:0033044Motor regression1TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM120224284614139
HP:0002376HP:0033044Motor regression1TREM2 CL E G H542092770ORPHA115417761605086
HP:0002376HP:0033044Motor regression1TREX1 CL E G H1127751ORPHA141812269606609
HP:0002376HP:0033044Motor regression1TUFM CL E G H7284610678Combined oxidative phosphorylation deficiency 4610678C1857682OMIM132312420602389
HP:0002376HP:0033044Motor regression1TYROBP CL E G H73052770ORPHA111012449604142
HP:0002376HP:0033044Motor regression1UBA5 CL E G H79876442835ORPHA122323230610552
HP:0002376HP:0033044Motor regression1UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM18412511600673
HP:0002376HP:0033044Motor regression1VAC14 CL E G H55697617054Striatonigral degeneration, childhood-onset617054C4310743OMIM136725507604632
HP:0002376HP:0033044Motor regression1VPS13A CL E G H232302388ORPHA123621908605978
HP:0002376HP:0033044Motor regression1WWOX CL E G H51741442835ORPHA1110212799605131
HP:0002376HP:0033044Motor regression1XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA132112814611153
HP:0002376HP:0033044Motor regression1XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA178812816613208
HP:0002376HP:0033044Motor regression1YWHAG CL E G H7532442835ORPHA118912852605356
HP:0002376HP:0033044Motor regression1ZBTB20 CL E G H261373042ORPHA125213503606025
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002376HP:0002376Developmental regression0AAAS CL E G H8086869ORPHA021713666605378
HP:0002376HP:0002376Developmental regression0ADAR CL E G H103615010Aicardi-Goutieres syndrome 6615010C3539013OMIM01122225146920
HP:0002376HP:0002376Developmental regression0BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA0249961605681
HP:0002376HP:0002376Developmental regression0C4A CL E G H720117ORPHA0531323120810
HP:0002376HP:0002376Developmental regression0CCR1 CL E G H1230117ORPHA0311602601159
HP:0002376HP:0002376Developmental regression0CISD2 CL E G H4938563463ORPHA07124212611507
HP:0002376HP:0002376Developmental regression0CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA02292586603432
HP:0002376HP:0002376Developmental regression0CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM058530664616254
HP:0002376HP:0002376Developmental regression0DNAJC19 CL E G H13111866634ORPHA014230528608977
HP:0002376HP:0002376Developmental regression0ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA09663327130160
HP:0002376HP:0002376Developmental regression0EPCAM CL E G H4072144ORPHA074411529185535
HP:0002376HP:0002376Developmental regression0ERAP1 CL E G H51752117ORPHA017518173606832
HP:0002376HP:0002376Developmental regression0FAN1 CL E G H22909144ORPHA048229170613534
HP:0002376HP:0002376Developmental regression0FAS CL E G H355117ORPHA038711920134637
HP:0002376HP:0002376Developmental regression0FTL CL E G H2512157846ORPHA01853999134790
HP:0002376HP:0002376Developmental regression0GCDH CL E G H263925ORPHA07204189608801
HP:0002376HP:0002376Developmental regression0GLA CL E G H2717324Slti Salem syndromeORPHA010994296300644
HP:0002376HP:0002376Developmental regression0GLRX5 CL E G H51218401866ORPHA011120134609588
HP:0002376HP:0002376Developmental regression0GMPPA CL E G H29926869ORPHA015022923615495
HP:0002376HP:0002376Developmental regression0GNB1 CL E G H2782488613ORPHA03824396139380
HP:0002376HP:0002376Developmental regression0GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA01784659601679
HP:0002376HP:0002376Developmental regression0GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA02664661604318
HP:0002376HP:0002376Developmental regression0HLA-B CL E G H3106117ORPHA0294932142830
HP:0002376HP:0002376Developmental regression0IFIH1 CL E G H64135615846Aicardi-Goutieres syndrome 7615846C3888244OMIM0117018873606951
HP:0002376HP:0002376Developmental regression0IL10 CL E G H3586117ORPHA01235962124092
HP:0002376HP:0002376Developmental regression0IL12A CL E G H3592117ORPHA0345969161560
HP:0002376HP:0002376Developmental regression0IL12A-AS1 CL E G H101928376117ORPHA018490940
HP:0002376HP:0002376Developmental regression0IL23R CL E G H149233117ORPHA024119100607562
HP:0002376HP:0002376Developmental regression0KLRC4 CL E G H8302117ORPHA0446377602893
HP:0002376HP:0002376Developmental regression0KRAS CL E G H3845144ORPHA04806407190070
HP:0002376HP:0002376Developmental regression0LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA02326613601329
HP:0002376HP:0002376Developmental regression0LYST CL E G H1130167ORPHA025751968606897
HP:0002376HP:0002376Developmental regression0MECP2 CL E G H4204778ORPHA019256990300005
HP:0002376HP:0002376Developmental regression0MEFV CL E G H4210117ORPHA010836998608107
HP:0002376HP:0002376Developmental regression0MLH1 CL E G H4292144ORPHA051227127120436
HP:0002376HP:0002376Developmental regression0MLH3 CL E G H27030144ORPHA022107128604395
HP:0002376HP:0002376Developmental regression0MSH2 CL E G H4436144ORPHA068567325609309
HP:0002376HP:0002376Developmental regression0MSH6 CL E G H2956144ORPHA084387329600678
HP:0002376HP:0002376Developmental regression0NDP CL E G H4693649ORPHA02997678300658
HP:0002376HP:0002376Developmental regression0NDUFAF6 CL E G H137682618239MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17618239OMIM028128625612392
HP:0002376HP:0002376Developmental regression0PIK3CA CL E G H5290144ORPHA011598975171834
HP:0002376HP:0002376Developmental regression0PMS1 CL E G H5378144ORPHA01259121600258
HP:0002376HP:0002376Developmental regression0PMS2 CL E G H5395144ORPHA047199122600259
HP:0002376HP:0002376Developmental regression0POC1A CL E G H25886614813Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis614813C3542022OMIM015624488614783
HP:0002376HP:0002376Developmental regression0RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA02009970600404
HP:0002376HP:0002376Developmental regression0ROGDI CL E G H79641226750Kohlschutter's syndrome226750C0406740OMIM056029478614574
HP:0002376HP:0002376Developmental regression0SLC1A2 CL E G H6506617105Epileptic encephalopathy, early infantile, 41617105C4310717OMIM035910940600300
HP:0002376HP:0002376Developmental regression0SON CL E G H6651500150ORPHA0103111183182465
HP:0002376HP:0002376Developmental regression0STAT4 CL E G H6775117ORPHA030711365600558
HP:0002376HP:0002376Developmental regression0TBCK CL E G H93627616900Hypotonia, infantile, with psychomotor retardation and characteristic facies 3616900C4225161OMIM072228261616899
HP:0002376HP:0002376Developmental regression0TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA019411586605842
HP:0002376HP:0002376Developmental regression0TGFBR2 CL E G H7048144ORPHA094811773190182
HP:0002376HP:0002376Developmental regression0TLR4 CL E G H7099117ORPHA08311850603030
HP:0002376HP:0002376Developmental regression0TRAPPC11 CL E G H60684869ORPHA098325751614138
HP:0002376HP:0002376Developmental regression0TTPA CL E G H727496ORPHA038912404600415
HP:0002376HP:0002376Developmental regression0UBAC2 CL E G H337867117ORPHA0126204860
HP:0002376HP:0002376Developmental regression0WFS1 CL E G H74663463ORPHA0163412762606201
HP:0002376HP:0033044Motor regression1AAAS CL E G H8086869ORPHA021713666605378
HP:0002376HP:0033044Motor regression1ADAR CL E G H103615010Aicardi-Goutieres syndrome 6615010C3539013OMIM01122225146920
HP:0002376HP:0033044Motor regression1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA0249961605681
HP:0002376HP:0033044Motor regression1C4A CL E G H720117ORPHA0531323120810
HP:0002376HP:0033044Motor regression1CCR1 CL E G H1230117ORPHA0311602601159
HP:0002376HP:0033044Motor regression1CISD2 CL E G H4938563463ORPHA07124212611507
HP:0002376HP:0033044Motor regression1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA02292586603432
HP:0002376HP:0033044Motor regression1CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM058530664616254
HP:0002376HP:0033044Motor regression1DNAJC19 CL E G H13111866634ORPHA014230528608977
HP:0002376HP:0033044Motor regression1ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA09663327130160
HP:0002376HP:0033044Motor regression1EPCAM CL E G H4072144ORPHA074411529185535
HP:0002376HP:0033044Motor regression1ERAP1 CL E G H51752117ORPHA017518173606832
HP:0002376HP:0033044Motor regression1FAN1 CL E G H22909144ORPHA048229170613534
HP:0002376HP:0033044Motor regression1FAS CL E G H355117ORPHA038711920134637
HP:0002376HP:0033044Motor regression1FTL CL E G H2512157846ORPHA01853999134790
HP:0002376HP:0033044Motor regression1GCDH CL E G H263925ORPHA07204189608801
HP:0002376HP:0033044Motor regression1GLA CL E G H2717324Slti Salem syndromeORPHA010994296300644
HP:0002376HP:0033044Motor regression1GLRX5 CL E G H51218401866ORPHA011120134609588
HP:0002376HP:0033044Motor regression1GMPPA CL E G H29926869ORPHA015022923615495
HP:0002376HP:0033044Motor regression1GNB1 CL E G H2782488613ORPHA03824396139380
HP:0002376HP:0033044Motor regression1GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA01784659601679
HP:0002376HP:0033044Motor regression1GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA02664661604318
HP:0002376HP:0033044Motor regression1HLA-B CL E G H3106117ORPHA0294932142830
HP:0002376HP:0033044Motor regression1IFIH1 CL E G H64135615846Aicardi-Goutieres syndrome 7615846C3888244OMIM0117018873606951
HP:0002376HP:0033044Motor regression1IL10 CL E G H3586117ORPHA01235962124092
HP:0002376HP:0033044Motor regression1IL12A CL E G H3592117ORPHA0345969161560
HP:0002376HP:0033044Motor regression1IL12A-AS1 CL E G H101928376117ORPHA018490940
HP:0002376HP:0033044Motor regression1IL23R CL E G H149233117ORPHA024119100607562
HP:0002376HP:0033044Motor regression1KLRC4 CL E G H8302117ORPHA0446377602893
HP:0002376HP:0033044Motor regression1KRAS CL E G H3845144ORPHA04806407190070
HP:0002376HP:0033044Motor regression1LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA02326613601329
HP:0002376HP:0033044Motor regression1LYST CL E G H1130167ORPHA025751968606897
HP:0002376HP:0033044Motor regression1MECP2 CL E G H4204778ORPHA019256990300005
HP:0002376HP:0033044Motor regression1MEFV CL E G H4210117ORPHA010836998608107
HP:0002376HP:0033044Motor regression1MLH1 CL E G H4292144ORPHA051227127120436
HP:0002376HP:0033044Motor regression1MLH3 CL E G H27030144ORPHA022107128604395
HP:0002376HP:0033044Motor regression1MSH2 CL E G H4436144ORPHA068567325609309
HP:0002376HP:0033044Motor regression1MSH6 CL E G H2956144ORPHA084387329600678
HP:0002376HP:0033044Motor regression1NDP CL E G H4693649ORPHA02997678300658
HP:0002376HP:0033044Motor regression1NDUFAF6 CL E G H137682618239MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17618239OMIM028128625612392
HP:0002376HP:0033044Motor regression1PIK3CA CL E G H5290144ORPHA011598975171834
HP:0002376HP:0033044Motor regression1PMS1 CL E G H5378144ORPHA01259121600258
HP:0002376HP:0033044Motor regression1PMS2 CL E G H5395144ORPHA047199122600259
HP:0002376HP:0033044Motor regression1POC1A CL E G H25886614813Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis614813C3542022OMIM015624488614783
HP:0002376HP:0033044Motor regression1RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA02009970600404
HP:0002376HP:0033044Motor regression1ROGDI CL E G H79641226750Kohlschutter's syndrome226750C0406740OMIM056029478614574
HP:0002376HP:0033044Motor regression1SLC1A2 CL E G H6506617105Epileptic encephalopathy, early infantile, 41617105C4310717OMIM035910940600300
HP:0002376HP:0033044Motor regression1SON CL E G H6651500150ORPHA0103111183182465
HP:0002376HP:0033044Motor regression1STAT4 CL E G H6775117ORPHA030711365600558
HP:0002376HP:0033044Motor regression1TBCK CL E G H93627616900Hypotonia, infantile, with psychomotor retardation and characteristic facies 3616900C4225161OMIM072228261616899
HP:0002376HP:0033044Motor regression1TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA019411586605842
HP:0002376HP:0033044Motor regression1TGFBR2 CL E G H7048144ORPHA094811773190182
HP:0002376HP:0033044Motor regression1TLR4 CL E G H7099117ORPHA08311850603030
HP:0002376HP:0033044Motor regression1TRAPPC11 CL E G H60684869ORPHA098325751614138
HP:0002376HP:0033044Motor regression1TTPA CL E G H727496ORPHA038912404600415
HP:0002376HP:0033044Motor regression1UBAC2 CL E G H337867117ORPHA0126204860
HP:0002376HP:0033044Motor regression1WFS1 CL E G H74663463ORPHA0163412762606201


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 309271 309263 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 August 2021 release.