Human Phenotype Ontology 
Grandparent Node:
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Abnormality of higher mental function (HP:0011446)help
Parent Node:
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Delayed speech and language development (HP:0000750)help
Parent Node:
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Neurological speech impairment (HP:0002167)help
..Starting node
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Absent speech (HP:0001344)help
Term ID: 1344
Name: Absent speech
Synonym: Absent speech development; Lack of language development; Lack of speech; No speech development; No speech or language development; Nonverbal
Definition: Complete lack of development of speech and language abilities.
Comments:
Reference: HP:0001344
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAlexia (HP:0010523) help
..expandAnarthria (HP:0002425) help
..expandAnomia (HP:0030784) help
..expandAphasia (HP:0002381) help
..expandDeficit in nonword repetition (HP:0002526) help
..expandDysarthria (HP:0001260) help
..expandDysgraphia (HP:0010526) help
..expandDysphasia (HP:0002357) help
..expandDysphonia (HP:0001618) help
..expandEcholalia (HP:0010529) help
..expandGrammar-specific speech disorder (HP:0006977) help
..expandIncomprehensible speech (HP:0002546) help
..expandLoss of speech (HP:0002371) help
..expandMutism (HP:0002300) help
..expandPalilalia (HP:0031814) help
..expandPoor speech (HP:0002465) help
..expandScanning speech (HP:0002168) help
..expandStuttering (HP:0025268) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001344HP:0001344Absent speech0ADSL CL E G H1584646,XX testicular disorder of sex developmentC2936420ORPHA158279291608222
HP:0001344HP:0001344Absent speech0AIMP2 CL E G H7965618006LEUKODYSTROPHY, HYPOMYELINATING, 17618006CN248514OMIM136620609600859
HP:0001344HP:0001344Absent speech0ALDH18A1 CL E G H5832616586Spastic paraplegia 9b, autosomal recessive616586C4225272OMIM1332529722138250
HP:0001344HP:0001344Absent speech0ALG11 CL E G H440138613661Congenital disorder of glycosylation type 1P613661C3150913OMIM11414332456613666
HP:0001344HP:0001344Absent speech0AP3B2 CL E G H8120617276Epileptic encephalopathy, early infantile, 48617276C4310637OMIM11290567602166
HP:0001344HP:0001344Absent speech0ASH1L CL E G H55870617796MENTAL RETARDATION, AUTOSOMAL DOMINANT 52617796C4540478OMIM1198319088607999
HP:0001344HP:0001344Absent speech0ASXL3 CL E G H80816615485Bainbridge-Ropers syndrome615485C3809650OMIM15017429357615115
HP:0001344HP:0001344Absent speech0ATP6V1A CL E G H523618012EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3618012CN248521OMIM1947851607027
HP:0001344HP:0001344Absent speech0BCL11B CL E G H64919617237Immunodeficiency 49617237C4310656OMIM1126513222606558
HP:0001344HP:0001344Absent speech0BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM11848221701614506
HP:0001344HP:0001344Absent speech0C2CD3 CL E G H26005615948Orofaciodigital syndrome xiv615948C4014780OMIM11012324564615944
HP:0001344HP:0001344Absent speech0CACNA1E CL E G H777618285618285618285OMIM124761392601013
HP:0001344HP:0001344Absent speech0CAMK2A CL E G H815617798MENTAL RETARDATION, AUTOSOMAL DOMINANT 53617798C4540481OMIM116351460114078
HP:0001344HP:0001344Absent speech0CAMK2B CL E G H816617799MENTAL RETARDATION, AUTOSOMAL DOMINANT 54617799C4540484OMIM111491461607707
HP:0001344HP:0001344Absent speech0CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM11194461497300172
HP:0001344HP:0001344Absent speech0CCDC47 CL E G H57003618268618268618268OMIM1520248560
HP:0001344HP:0001344Absent speech0CCDC88A CL E G H55704617507PEHO-like syndrome617507C1850056OMIM145625523609736
HP:0001344HP:0001344Absent speech0CCND2 CL E G H894615938Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3615938C4014742OMIM111851583123833
HP:0001344HP:0001344Absent speech0CDC42 CL E G H998616737Takenouchi-Kosaki syndrome616737C4225222OMIM111331736116952
HP:0001344HP:0001344Absent speech0CHAMP1 CL E G H283489616579Mental retardation, autosomal dominant 40616579C4225275OMIM11716820311616327
HP:0001344HP:0001344Absent speech0CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM131068740164010
HP:0001344HP:0001344Absent speech0CLCN4 CL E G H1183300114Mental retardation 49, X-linked300114C3887959OMIM1183342022302910
HP:0001344HP:0001344Absent speech0CLIC2 CL E G H1193300886Mental retardation, X-linked, syndromic 32300886C3550913OMIM132402063300138
HP:0001344HP:0001344Absent speech0CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM123216999608757
HP:0001344HP:0001344Absent speech0CNKSR2 CL E G H22866301008MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE301008C4538788OMIM1621419701300724
HP:0001344HP:0001344Absent speech0CNNM2 CL E G H54805616418Hypomagnesemia, seizures, and mental retardation616418C4225333OMIM17131103607803
HP:0001344HP:0001344Absent speech0CNTNAP2 CL E G H26047610042Pitt-Hopkins-like syndrome 1610042C2750246OMIM178106813830604569
HP:0001344HP:0001344Absent speech0COG4 CL E G H25839263501ORPHA1614118620606976
HP:0001344HP:0001344Absent speech0COG4 CL E G H25839613489Congenital disorder of glycosylation type 2J613489C3150736OMIM1614118620606976
HP:0001344HP:0001344Absent speech0CPLX1 CL E G H10815617976EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63617976CN244926OMIM131432309605032
HP:0001344HP:0001344Absent speech0CSNK2A1 CL E G H1457617062Okur-chung neurodevelopmental syndrome617062C4310739OMIM1201022457115440
HP:0001344HP:0001344Absent speech0CTNNA2 CL E G H1496618174CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9618174OMIM16452510114025
HP:0001344HP:0001344Absent speech0CUL4B CL E G H845085293ORPHA1402472555300304
HP:0001344HP:0001344Absent speech0CUL4B CL E G H8450300354Syndromic X-linked mental retardation, Cabezas type300354C1845861OMIM1402472555300304
HP:0001344HP:0001344Absent speech0CYFIP2 CL E G H26999618008EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65618008CN248516OMIM134213760606323
HP:0001344HP:0001344Absent speech0DAG1 CL E G H1605616538Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9616538C4225291OMIM1113012666128239
HP:0001344HP:0001344Absent speech0DCPS CL E G H28960616459AL-RAQAD SYNDROME616459C4085595OMIM129529812610534
HP:0001344HP:0001344Absent speech0DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM11712914677602635
HP:0001344HP:0001344Absent speech0DENND5A CL E G H23258617281Epileptic encephalopathy, early infantile, 49617281C4310635OMIM194319344617278
HP:0001344HP:0001344Absent speech0DHX30 CL E G H22907617804NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE617804C4540496OMIM162416716616423
HP:0001344HP:0001344Absent speech0DNM1 CL E G H1759616346Epileptic encephalopathy, early infantile, 31616346C4225357OMIM1313242972602377
HP:0001344HP:0001344Absent speech0EARS2 CL E G H124454614924Combined oxidative phosphorylation deficiency 12614924C3554079OMIM13017929419612799
HP:0001344HP:0001344Absent speech0EEF1A2 CL E G H1917616409Epileptic encephalopathy, early infantile, 33616409C4225337OMIM1122603192602959
HP:0001344HP:0001344Absent speech0EEF1A2 CL E G H1917616393Mental retardation, autosomal dominant 38616393C4225343OMIM1122603192602959
HP:0001344HP:0001344Absent speech0ELP2 CL E G H55250617270Mental retardation, autosomal recessive 58617270C4310641OMIM168918248616054
HP:0001344HP:0001344Absent speech0ERLIN2 CL E G H11160611225Spastic paraplegia 18611225C2749936OMIM1151031356611605
HP:0001344HP:0001344Absent speech0EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM11914017944606489
HP:0001344HP:0001344Absent speech0FGF12 CL E G H2257617166Epileptic encephalopathy, early infantile, 47617166C4310685OMIM110743668601513
HP:0001344HP:0001344Absent speech0FOXG1 CL E G H2290261144ORPHA11693573811164874
HP:0001344HP:0001344Absent speech0FRMD4A CL E G H55691466688ORPHA125325491616305
HP:0001344HP:0001344Absent speech0FRMD4A CL E G H55691616819Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia616819C4225193OMIM125325491616305
HP:0001344HP:0001344Absent speech0FRMPD4 CL E G H9758300983Mental retardation, X-linked 104300983C4310817OMIM1626529007300838
HP:0001344HP:0001344Absent speech0FRRS1L CL E G H23732616981Epileptic encephalopathy, early infantile, 37616981C4310770OMIM161641362604574
HP:0001344HP:0001344Absent speech0GABBR2 CL E G H9568617904Early infantile epileptic encephalopathy 59617904CN870853OMIM182094507607340
HP:0001344HP:0001344Absent speech0GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM1162124082600232
HP:0001344HP:0001344Absent speech0GABRD CL E G H25631606ORPHA172784084137163
HP:0001344HP:0001344Absent speech0GEMIN4 CL E G H50628617913NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES617913CN889218OMIM1512815717606969
HP:0001344HP:0001344Absent speech0GMPPB CL E G H29925615350Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14615350C3809216OMIM14915122932615320
HP:0001344HP:0001344Absent speech0GMPPB CL E G H29925615351Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14615351C3809221OMIM14915122932615320
HP:0001344HP:0001344Absent speech0GNAO1 CL E G H2775615473Early infantile epileptic encephalopathy 17615473C3809606OMIM1351544389139311
HP:0001344HP:0001344Absent speech0GNAO1 CL E G H2775617493Neurodevelopmental disorder with involuntary movements617493C4479569OMIM1351544389139311
HP:0001344HP:0001344Absent speech0GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM1251464422607664
HP:0001344HP:0001344Absent speech0GPT2 CL E G H84706616281Mental retardation, autosomal recessive 49616281C4225388OMIM1105818062138210
HP:0001344HP:0001344Absent speech0GRIA4 CL E G H2893617864NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES617864CN800195OMIM15334574138246
HP:0001344HP:0001344Absent speech0GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM1393934584138249
HP:0001344HP:0001344Absent speech0GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM1393934584138249
HP:0001344HP:0001344Absent speech0GRIN2B CL E G H2904616139Epileptic encephalopathy, early infantile, 27616139C4015316OMIM11076294586138252
HP:0001344HP:0001344Absent speech0GRIN2D CL E G H2906617162Epileptic encephalopathy, early infantile, 46617162C4310687OMIM12774588602717
HP:0001344HP:0001344Absent speech0HERC1 CL E G H8925617011Macrocephaly, dysmorphic facies, and psychomotor retardation617011C4310766OMIM191734867605109
HP:0001344HP:0001344Absent speech0HIKESHI CL E G H51501616881Leukodystrophy, hypomyelinating, 13616881C4225170OMIM123326938614908
HP:0001344HP:0001344Absent speech0HIVEP2 CL E G H3097616977Mental retardation, autosomal dominant 43616977C4310771OMIM1151444921143054
HP:0001344HP:0001344Absent speech0HNRNPH2 CL E G H3188300986Mental retardation, X-linked, syndromic, Bain type300986C4310814OMIM141745042300610
HP:0001344HP:0001344Absent speech0HNRNPU CL E G H3192617391Epileptic encephalopathy, early infantile, 54617391C4479319OMIM1683215048602869
HP:0001344HP:0001344Absent speech0HTT CL E G H3064617435Lopes-Maciel-Rodan syndrome617435C4479491OMIM181274851613004
HP:0001344HP:0001344Absent speech0IFIH1 CL E G H64135615846Aicardi-Goutieres syndrome 7615846C3888244OMIM12828618873606951
HP:0001344HP:0001344Absent speech0ISCA2 CL E G H122961616370Multiple mitochondrial dysfunctions syndrome 4616370C4225348OMIM132919857615317
HP:0001344HP:0001344Absent speech0KAT6A CL E G H7994616268Mental retardation, autosomal dominant 32616268C4225396OMIM12921913013601408
HP:0001344HP:0001344Absent speech0KCNA2 CL E G H3737616366Epileptic encephalopathy, early infantile, 32616366C4225350OMIM1211296220176262
HP:0001344HP:0001344Absent speech0KCNAB2 CL E G H85141606ORPHA15856229601142
HP:0001344HP:0001344Absent speech0KCNB1 CL E G H3745616056Epileptic encephalopathy, early infantile, 26616056C4015119OMIM1302786231600397
HP:0001344HP:0001344Absent speech0KCNQ5 CL E G H56479617601MENTAL RETARDATION, AUTOSOMAL DOMINANT 46617601C4539851OMIM16416299607357
HP:0001344HP:0001344Absent speech0KIAA1109 CL E G H84162617822ALKURAYA-KUCINSKAS SYNDROME617822CN737163OMIM1167126953611565
HP:0001344HP:0001344Absent speech0KIF1A CL E G H547614255Mental retardation, autosomal dominant 9614255C3280283OMIM1431059888601255
HP:0001344HP:0001344Absent speech0KIF5C CL E G H3800615282Cortical dysplasia, complex, with other brain malformations 2615282C3809013OMIM16766325604593
HP:0001344HP:0001344Absent speech0KLHL15 CL E G H80311300982Mental retardation, X-linked 103300982C4310818OMIM1417229347300980
HP:0001344HP:0001344Absent speech0LAS1L CL E G H81887309585Wilson-Turner X-linked mental retardation syndrome309585C1839736OMIM1417225726300964
HP:0001344HP:0001344Absent speech0LINGO1 CL E G H84894618103MENTAL RETARDATION, AUTOSOMAL RECESSIVE 64618103CN253431OMIM133021205609791
HP:0001344HP:0001344Absent speech0LIPT2 CL E G H387787617668ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES617668C4540052OMIM141437216617659
HP:0001344HP:0001344Absent speech0LNPK CL E G H80856618090NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM618090CN252703OMIM123321610610236
HP:0001344HP:0001344Absent speech0MAGEL2 CL E G H54551615547Schaaf-yang syndrome615547C3809877OMIM1204536814605283
HP:0001344HP:0001344Absent speech0MBOAT7 CL E G H79143617188Mental retardation, autosomal recessive 57617188C4310673OMIM174015505606048
HP:0001344HP:0001344Absent speech0MCOLN1 CL E G H57192578Akesson syndromeORPHA13622813356605248
HP:0001344HP:0001344Absent speech0MCOLN1 CL E G H57192252650Mucolipidosis type IV252650C0238286OMIM13622813356605248
HP:0001344HP:0001344Absent speech0MDH2 CL E G H4191617339Epileptic encephalopathy, early infantile, 51617339C4479208OMIM19676971154100
HP:0001344HP:0001344Absent speech0MECP2 CL E G H4204300260MECP2 duplication syndrome300260C1846058OMIM1105014426990300005
HP:0001344HP:0001344Absent speech0MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM146424858614785
HP:0001344HP:0001344Absent speech0MFSD2A CL E G H84879616486Primary autosomal recessive microcephaly 15616486C4225310OMIM163325897614397
HP:0001344HP:0001344Absent speech0MID2 CL E G H11043300928Mental retardation, X-linked 101300928C3890168OMIM121847096300204
HP:0001344HP:0001344Absent speech0MPDU1 CL E G H9526609180Congenital disorder of glycosylation type 1F609180C1836669OMIM17857207604041
HP:0001344HP:0001344Absent speech0MRPS34 CL E G H65993617664COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32617664C4540029OMIM145816618611994
HP:0001344HP:0001344Absent speech0NACC1 CL E G H112939617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination617393C4479333OMIM135520967610672
HP:0001344HP:0001344Absent speech0NCAPD2 CL E G H9918617983MICROCEPHALY 21, PRIMARY, AUTOSOMAL RECESSIVE617983CN244930OMIM136224305615638
HP:0001344HP:0001344Absent speech0NEDD4L CL E G H23327617201Periventricular nodular heterotopia 7617201C4310669OMIM1102937728606384
HP:0001344HP:0001344Absent speech0NEXMIF CL E G H34053385277ORPHA14146829433300524
HP:0001344HP:0001344Absent speech0NEXMIF CL E G H340533300912Mental retardation, X-linked 98300912C3806730OMIM14146829433300524
HP:0001344HP:0001344Absent speech0NTRK2 CL E G H4915617830EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58617830CN757795OMIM113708032600456
HP:0001344HP:0001344Absent speech0OTUD6B CL E G H51633505237ORPHA164724281612021
HP:0001344HP:0001344Absent speech0PACS1 CL E G H55690615009Schuurs-hoeijmakers syndrome615009C3554343OMIM129130032607492
HP:0001344HP:0001344Absent speech0PGAP1 CL E G H80055615802Mental retardation, autosomal recessive 42615802C4014343OMIM11210525712611655
HP:0001344HP:0001344Absent speech0PGAP2 CL E G H27315614207Hyperphosphatasia with mental retardation syndrome 3614207C3280153OMIM175217893615187
HP:0001344HP:0001344Absent speech0PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM1293208957311770
HP:0001344HP:0001344Absent speech0PIGG CL E G H54872616917Mental retardation, autosomal recessive 53616917C4310794OMIM1640025985616918
HP:0001344HP:0001344Absent speech0PIGN CL E G H23556614080Multiple congenital anomalies-hypotonia-seizures syndrome 1614080C3279775OMIM1344168967606097
HP:0001344HP:0001344Absent speech0PIGP CL E G H51227617599Early infantile epileptic encephalopathy 55617599C4539843OMIM12733046605938
HP:0001344HP:0001344Absent speech0PIGV CL E G H55650239300Hyperphosphatasia with mental retardation syndrome 1239300CN030519OMIM11611226031610274
HP:0001344HP:0001344Absent speech0PIGW CL E G H284098616025Hyperphosphatasia with mental retardation syndrome 5616025C4014958OMIM1413723213610275
HP:0001344HP:0001344Absent speech0PMPCB CL E G H9512617954MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6617954CN244567OMIM15279119603131
HP:0001344HP:0001344Absent speech0PNPT1 CL E G H87178614932Combined oxidative phosphorylation deficiency 13614932C3554129OMIM11616723166610316
HP:0001344HP:0001344Absent speech0POMT1 CL E G H10585613155Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1613155C3150415OMIM1965089202607423
HP:0001344HP:0001344Absent speech0PPP2R1A CL E G H5518616362Mental retardation, autosomal dominant 36616362C4225352OMIM17519302605983
HP:0001344HP:0001344Absent speech0PPP2R5D CL E G H5528616355Mental retardation, autosomal dominant 35616355C4225354OMIM111419312601646
HP:0001344HP:0001344Absent speech0PPP3CA CL E G H5530617711EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1617711C4540199OMIM111399314114105
HP:0001344HP:0001344Absent speech0PRDM16 CL E G H639761606ORPHA12167714000605557
HP:0001344HP:0001344Absent speech0PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM1322599462311850
HP:0001344HP:0001344Absent speech0PURA CL E G H5813616158Mental retardation, autosomal dominant 31616158C4015357OMIM1482289701600473
HP:0001344HP:0001344Absent speech0PYCR2 CL E G H29920616420Leukodystrophy, hypomyelinating, 10616420C4225332OMIM1136330262616406
HP:0001344HP:0001344Absent speech0RAB11B CL E G H9230617807NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER617807C4540498OMIM12149761604198
HP:0001344HP:0001344Absent speech0RAB3GAP2 CL E G H25782614225Warburg micro syndrome 2614225C3280214OMIM11629417168609275
HP:0001344HP:0001344Absent speech0RAC1 CL E G H5879617751MENTAL RETARDATION, AUTOSOMAL DOMINANT 48617751C4540321OMIM117699801602048
HP:0001344HP:0001344Absent speech0RARS2 CL E G H57038611523Pontocerebellar hypoplasia type 6611523C1969084OMIM13721621406611524
HP:0001344HP:0001344Absent speech0RERE CL E G H4731606ORPHA1251619965605226
HP:0001344HP:0001344Absent speech0RHOBTB2 CL E G H23221618004EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64618004CN248512OMIM169318756607352
HP:0001344HP:0001344Absent speech0RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM1169721176614917
HP:0001344HP:0001344Absent speech0SCN3A CL E G H6328617938Early infantile epileptic encephalopathy 62617938CN244551OMIM11942210590182391
HP:0001344HP:0001344Absent speech0SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM15214021061614725
HP:0001344HP:0001344Absent speech0SETBP1 CL E G H26040616078Mental retardation, autosomal dominant 29616078C4015141OMIM14721215573611060
HP:0001344HP:0001344Absent speech0SHROOM4 CL E G H57477300434Stocco dos Santos syndrome300434C1845530OMIM1922829215300579
HP:0001344HP:0001344Absent speech0SKI CL E G H64971606ORPHA12450210896164780
HP:0001344HP:0001344Absent speech0SLC16A2 CL E G H656759ORPHA18825710923300095
HP:0001344HP:0001344Absent speech0SLC1A2 CL E G H6506617105Epileptic encephalopathy, early infantile, 41617105C4310717OMIM184910940600300
HP:0001344HP:0001344Absent speech0SLC1A4 CL E G H6509616657Spastic tetraplegia, thin corpus callosum, and progressive microcephaly616657C4225254OMIM184610942600229
HP:0001344HP:0001344Absent speech0SLC25A12 CL E G H8604612949Hypomyelination, global cerebral612949C2751855OMIM1614810982603667
HP:0001344HP:0001344Absent speech0SLC2A1 CL E G H6513608885Stomatin-deficient cryohydrocytosis with neurologic defects608885C1837206OMIM128151611005138140
HP:0001344HP:0001344Absent speech0SLC33A1 CL E G H9197614482Congenital cataracts, hearing loss, and neurodegeneration614482C3280965OMIM176095603690
HP:0001344HP:0001344Absent speech0SLC6A17 CL E G H388662616269Mental retardation, autosomal recessive 48616269C4225395OMIM134031399610299
HP:0001344HP:0001344Absent speech0SLC6A3 CL E G H6531238455ORPHA14625911049126455
HP:0001344HP:0001344Absent speech0SLC9A6 CL E G H1047985278ORPHA12835111079300231
HP:0001344HP:0001344Absent speech0SLC9A6 CL E G H10479300243Christianson syndrome300243C2678194OMIM12835111079300231
HP:0001344HP:0001344Absent speech0SMARCA2 CL E G H6595601358Nicolaides-Baraitser syndrome601358C1303073OMIM17844511098600014
HP:0001344HP:0001344Absent speech0SMARCE1 CL E G H6605616938Coffin-Siris syndrome 5616938C4310788OMIM11328711109603111
HP:0001344HP:0001344Absent speech0SNX14 CL E G H57231616354Spinocerebellar ataxia, autosomal recessive 20616354C4225355OMIM1196114977616105
HP:0001344HP:0001344Absent speech0SPATA5 CL E G H166378616577Epilepsy, hearing loss, and mental retardation syndrome616577C4225276OMIM12828618119613940
HP:0001344HP:0001344Absent speech0SPTBN4 CL E G H57731617519Myopathy, congenital, with neuropathy and deafness617519C4479603OMIM195014896606214
HP:0001344HP:0001344Absent speech0ST3GAL5 CL E G H8869370938ORPHA1716310872604402
HP:0001344HP:0001344Absent speech0ST3GAL5 CL E G H8869609056Amish infantile epilepsy syndrome609056C1836824OMIM1716310872604402
HP:0001344HP:0001344Absent speech0STRADA CL E G H92335611087Polyhydramnios, megalencephaly, and symptomatic epilepsy611087C1970203OMIM1512930172608626
HP:0001344HP:0001344Absent speech0STXBP1 CL E G H6812612164Early infantile epileptic encephalopathy 4612164C2677326OMIM119553811444602926
HP:0001344HP:0001344Absent speech0TANGO2 CL E G H128989616878TANGO2-Related Metabolic Encephalopathy and Arrhythmias616878C4225171OMIM1941325439616830
HP:0001344HP:0001344Absent speech0TBCD CL E G H6904617193Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum617193C4310671OMIM12317511581604649
HP:0001344HP:0001344Absent speech0TCF4 CL E G H69252896Hypogonadism retinitis pigmentosaORPHA114862411634602272
HP:0001344HP:0001344Absent speech0TCF4 CL E G H6925610954Pitt-Hopkins syndrome610954C1970431OMIM114862411634602272
HP:0001344HP:0001344Absent speech0TCTN2 CL E G H79867616654Joubert syndrome 24616654C4084841OMIM11520325774613846
HP:0001344HP:0001344Absent speech0TELO2 CL E G H9894616954You-Hoover-Fong syndrome616954C4310778OMIM1811529099611140
HP:0001344HP:0001344Absent speech0TIMM50 CL E G H926096176983-METHYLGLUTACONIC ACIDURIA, TYPE IX617698C4540171OMIM161723656607381
HP:0001344HP:0001344Absent speech0TMEM231 CL E G H79583614970Joubert syndrome 20614970C3554235OMIM11915037234614949
HP:0001344HP:0001344Absent speech0TMTC3 CL E G H160418617255Lissencephaly 8617255C4310646OMIM1104426899617218
HP:0001344HP:0001344Absent speech0TOE1 CL E G H114034614969Pontocerebellar hypoplasia, type 7614969C3554226OMIM11212815954613931
HP:0001344HP:0001344Absent speech0TRAPPC11 CL E G H60684369840ORPHA11735125751614138
HP:0001344HP:0001344Absent speech0TRIT1 CL E G H54802617873COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35617873CN807948OMIM162820286617840
HP:0001344HP:0001344Absent speech0UBA5 CL E G H79876617132Epileptic encephalopathy, early infantile, 44617132C4310700OMIM1184823230610552
HP:0001344HP:0001344Absent speech0UBE3A CL E G H7337105830Angelman syndrome105830C0162635OMIM120275912496601623
HP:0001344HP:0001344Absent speech0UFC1 CL E G H51506618076NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH618076CN252685OMIM121726941610554
HP:0001344HP:0001344Absent speech0UFM1 CL E G H51569617899LEUKODYSTROPHY, HYPOMYELINATING, 14617899CN845004OMIM124320597610553
HP:0001344HP:0001344Absent speech0UQCRQ CL E G H27089615159Mitochondrial complex III deficiency, nuclear type 4615159C3554607OMIM118229594612080
HP:0001344HP:0001344Absent speech0USP27X CL E G H389856300984Mental retardation, X-linked 105300984C4310816OMIM1216913486300975
HP:0001344HP:0001344Absent speech0VPS11 CL E G H55823466934ORPHA135414583608549
HP:0001344HP:0001344Absent speech0VPS11 CL E G H55823616683Leukodystrophy, hypomyelinating, 12616683C4225247OMIM135414583608549
HP:0001344HP:0001344Absent speech0WARS2 CL E G H10352617710NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES617710C4540192OMIM1143612730604733
HP:0001344HP:0001344Absent speech0WDR26 CL E G H80232617616SKRABAN-DEARDORFF SYNDROME617616C4539927OMIM1346921208617424
HP:0001344HP:0001344Absent speech0WDR45 CL E G H11152300894Neurodegeneration with brain iron accumulation 5300894C3550973OMIM17834928912300526
HP:0001344HP:0001344Absent speech0WDR45B CL E G H56270617977NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA AND BRAIN ABNORMALITIES WITH OR WITHOUT SEIZURES617977CN244929OMIM144925072609226
HP:0001344HP:0001344Absent speech0YME1L1 CL E G H10730617302Optic atrophy 11617302C4310628OMIM113612843607472
HP:0001344HP:0001344Absent speech0ZBTB18 CL E G H10472612337Mental retardation, autosomal dominant 22612337C2676727OMIM13213813030608433
HP:0001344HP:0001344Absent speech0ZDHHC15 CL E G H158866300577Mental retardation 91, X-linked300577C1845142OMIM1117520342300576
HP:0001344HP:0001344Absent speech0ZEB2 CL E G H9839235730Mowat-Wilson syndrome235730C1856113OMIM129861314881605802
HP:0001344HP:0001344Absent speech0ZSWIM6 CL E G H57688617865NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES617865CN800196OMIM126229316615951
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001344HP:0001344Absent speech0BMP4 CL E G H652607932Microphthalmia syndromic 6607932C1864689OMIM048891071112262
HP:0001344HP:0001344Absent speech0CASK CL E G H8573163937ORPHA01194461497300172
HP:0001344HP:0001344Absent speech0CSPP1 CL E G H79848397715ORPHA02725726193611654
HP:0001344HP:0001344Absent speech0GRM1 CL E G H2911324262ORPHA0201184593604473
HP:0001344HP:0001344Absent speech0KIAA0586 CL E G H9786397715ORPHA03115519960610178
HP:0001344HP:0001344Absent speech0SIK1 CL E G H150094616341Epileptic encephalopathy, early infantile, 30616341C4225360OMIM0741411142605705
HP:0001344HP:0001344Absent speech0TMCO1 CL E G H54499213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome213980C1859252OMIM053318188614123
HP:0001344HP:0001344Absent speech0UBE3B CL E G H89910244450Kaufman oculocerebrofacial syndrome244450C1855663OMIM0255413478608047
HP:0001344HP:0001344Absent speech0UNC80 CL E G H285175616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 2616801C4225203OMIM02620426582612636


Genes (181) :ADSL AIMP2 ALDH18A1 ALG11 AP3B2 ASH1L ASXL3 ATP6V1A BCL11B BMP4 BRAT1 C2CD3 CACNA1E CAMK2A CAMK2B CASK CCDC47 CCDC88A CCND2 CDC42 CHAMP1 CHMP1A CLCN4 CLIC2 CLP1 CNKSR2 CNNM2 CNTNAP2 COG4 CPLX1 CSNK2A1 CSPP1 CTNNA2 CUL4B CYFIP2 DAG1 DCPS DEAF1 DENND5A DHX30 DNM1 EARS2 EEF1A2 ELP2 ERLIN2 EXOSC3 FGF12 FOXG1 FRMD4A FRMPD4 FRRS1L GABBR2 GABRB2 GABRD GEMIN4 GMPPB GNAO1 GNS GPT2 GRIA4 GRIN1 GRIN2B GRIN2D GRM1 HERC1 HIKESHI HIVEP2 HNRNPH2 HNRNPU HTT IFIH1 ISCA2 KAT6A KCNA2 KCNAB2 KCNB1 KCNQ5 KIAA0586 KIAA1109 KIF1A KIF5C KLHL15 LAS1L LINGO1 LIPT2 LNPK MAGEL2 MBOAT7 MCOLN1 MDH2 MECP2 MFF MFSD2A MID2 MPDU1 MRPS34 NACC1 NCAPD2 NEDD4L NEXMIF NTRK2 OTUD6B PACS1 PGAP1 PGAP2 PIGA PIGG PIGN PIGP PIGV PIGW PMPCB PNPT1 POMT1 PPP2R1A PPP2R5D PPP3CA PRDM16 PRPS1 PURA PYCR2 RAB11B RAB3GAP2 RAC1 RARS2 RERE RHOBTB2 RMND1 SCN3A SERAC1 SETBP1 SHROOM4 SIK1 SKI SLC16A2 SLC1A2 SLC1A4 SLC25A12 SLC2A1 SLC33A1 SLC6A17 SLC6A3 SLC9A6 SMARCA2 SMARCE1 SNX14 SPATA5 SPTBN4 ST3GAL5 STRADA STXBP1 TANGO2 TBCD TCF4 TCTN2 TELO2 TIMM50 TMCO1 TMEM231 TMTC3 TOE1 TRAPPC11 TRIT1 UBA5 UBE3A UBE3B UFC1 UFM1 UNC80 UQCRQ USP27X VPS11 WARS2 WDR26 WDR45 WDR45B YME1L1 ZBTB18 ZDHHC15 ZEB2 ZSWIM6

Diseases (190) :46 618006 616586 613661 617276 617796 615485 618012 617237 607932 618056 615948 618285 617798 617799 163937 300749 618268 617507 615938 616737 616579 614961 300114 300886 615803 301008 616418 610042 263501 613489 617976 617062 397715 618174 85293 300354 618008 616538 616459 617171 617281 617804 616346 614924 616409 616393 617270 611225 614678 617166 261144 466688 616819 300983 616981 617904 617829 1606 617913 615350 615351 615473 617493 252940 616281 617864 614254 617820 616139 617162 324262 617011 616881 616977 300986 617391 617435 615846 616370 616268 616366 616056 617601 617822 614255 615282 300982 309585 618103 617668 618090 615547 617188 578 252650 617339 300260 617086 616486 300928 609180 617664 617393 617983 617201 85277 300912 617830 505237 615009 615802 614207 300868 616917 614080 617599 239300 616025 617954 614932 613155 616362 616355 617711 301835 616158 616420 617807 614225 617751 611523 618004 614922 617938 614739 616078 300434 616341 59 617105 616657 612949 608885 614482 616269 238455 85278 300243 601358 616938 616354 616577 617519 370938 609056 611087 612164 616878 617193 2896 610954 616654 616954 617698 213980 614970 617255 614969 369840 617873 617132 105830 244450 618076 617899 616801 615159 300984 466934 616683 617710 617616 300894 617977 617302 612337 300577 235730 617865
 

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