Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of higher mental function (HP:0011446)help
Parent Node:
expand
Neurological speech impairment (HP:0002167)help
..Starting node
..expand
Poor speech (HP:0002465)help
Term ID: 2465
Name: Poor speech
Synonym: Difficulty speaking; Poor speech; Problems speaking
Definition:
Comments:
Reference: HP:0002465
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbsent speech (HP:0001344) help
..expandAlexia (HP:0010523) help
..expandAnarthria (HP:0002425) help
..expandAnomic aphasia (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
..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:0002465HP:0002465Poor speech0ADD3 CL E G H120617008Cerebral palsy, spastic quadriplegic, 3617008C4310767OMIM1117245601568
HP:0002465HP:0002465Poor speech0ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM190257102750
HP:0002465HP:0002465Poor speech0ADPRHL2 CL E G H54936618170NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES618170OMIM121304610624
HP:0002465HP:0002465Poor speech0ALG9 CL E G H79796608776ALG9 congenital disorder of glycosylation608776C2931006OMIM123615672606941
HP:0002465HP:0002465Poor speech0AP1S2 CL E G H890585335ORPHA1218560300629
HP:0002465HP:0002465Poor speech0AP4B1 CL E G H10717280763ORPHA1300572607245
HP:0002465HP:0002465Poor speech0AP4E1 CL E G H23431280763ORPHA1377573607244
HP:0002465HP:0002465Poor speech0AP4M1 CL E G H9179280763ORPHA1311574602296
HP:0002465HP:0002465Poor speech0AP4S1 CL E G H11154280763ORPHA1122575607243
HP:0002465HP:0002465Poor speech0APC2 CL E G H10297617169Sotos syndrome 3617169C4310684OMIM123524036612034
HP:0002465HP:0002465Poor speech0ATAD3A CL E G H55210496790ORPHA129225567612316
HP:0002465HP:0002465Poor speech0ATP6V0A2 CL E G H23545357074ORPHA148418481611716
HP:0002465HP:0002465Poor speech0ATP6V1A CL E G H523357074ORPHA1123851607027
HP:0002465HP:0002465Poor speech0ATP6V1E1 CL E G H529357074ORPHA1172857108746
HP:0002465HP:0002465Poor speech0C9orf72 CL E G H203228275864ORPHA117328337614260
HP:0002465HP:0002465Poor speech0CAD CL E G H790616457Epileptic encephalopathy, early infantile, 50616457C4225320OMIM18791424114010
HP:0002465HP:0002465Poor speech0CCDC22 CL E G H28952300963Ritscher-schinzel syndrome 2300963C4225419OMIM125228909300859
HP:0002465HP:0002465Poor speech0CHKB CL E G H1120602541Muscular dystrophy, congenital, megaconial type602541C1865233OMIM14191938612395
HP:0002465HP:0002465Poor speech0CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM11888740164010
HP:0002465HP:0002465Poor speech0CHMP2B CL E G H25978275864ORPHA114124537609512
HP:0002465HP:0002465Poor speech0CIC CL E G H23152617600MENTAL RETARDATION, AUTOSOMAL DOMINANT 45617600C4539848OMIM125814214612082
HP:0002465HP:0002465Poor speech0CNNM2 CL E G H5480534527ORPHA1218103607803
HP:0002465HP:0002465Poor speech0CNTNAP2 CL E G H26047610042Pitt-Hopkins-like syndrome 1610042C2750246OMIM1163413830604569
HP:0002465HP:0002465Poor speech0DIAPH1 CL E G H1729616632Seizures, cortical blindness, and microcephaly syndrome616632C4225261OMIM19392876602121
HP:0002465HP:0002465Poor speech0DLAT CL E G H1737245348Pyruvate dehydrogenase E2 deficiency245348C1855565OMIM12372896608770
HP:0002465HP:0002465Poor speech0EGF CL E G H195034527ORPHA13163229131530
HP:0002465HP:0002465Poor speech0EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM11903267300161
HP:0002465HP:0002465Poor speech0EXT2 CL E G H2132616682Seizures, scoliosis, and macrocephaly syndrome616682C4225248OMIM15323513608210
HP:0002465HP:0002465Poor speech0FGF12 CL E G H2257617166Epileptic encephalopathy, early infantile, 47617166C4310685OMIM12103668601513
HP:0002465HP:0002465Poor speech0FMN2 CL E G H56776616193Mental retardation, autosomal recessive 47616193C4015444OMIM121814074606373
HP:0002465HP:0002465Poor speech0FOXRED1 CL E G H55572618241MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19618241OMIM125526927613622
HP:0002465HP:0002465Poor speech0GABRD CL E G H25631606ORPHA13974084137163
HP:0002465HP:0002465Poor speech0GATA4 CL E G H2626251071ORPHA16304173600576
HP:0002465HP:0002465Poor speech0GATAD2B CL E G H57459615074Mental retardation, autosomal dominant 18615074C3554448OMIM129130778614998
HP:0002465HP:0002465Poor speech0GJC2 CL E G H57165608804Leukodystrophy, hypomyelinating, 2608804C1837355OMIM125017494608803
HP:0002465HP:0002465Poor speech0GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM13534446603048
HP:0002465HP:0002465Poor speech0GPR88 CL E G H54112616939Chorea, childhood-onset, with psychomotor retardation616939C4310787OMIM1404539607468
HP:0002465HP:0002465Poor speech0GRID2 CL E G H2895616204Spinocerebellar ataxia, autosomal recessive 18616204C4015505OMIM11584576602368
HP:0002465HP:0002465Poor speech0GRN CL E G H2896275864ORPHA14174601138945
HP:0002465HP:0002465Poor speech0GUSB CL E G H2990253220Mucopolysaccharidosis type VII253220C0085132OMIM12774696611499
HP:0002465HP:0002465Poor speech0HDAC8 CL E G H558693459ORPHA132213315300269
HP:0002465HP:0002465Poor speech0HNRNPK CL E G H3190616580AU-KLINE SYNDROME616580C4225274OMIM11295044600712
HP:0002465HP:0002465Poor speech0IQSEC2 CL E G H23096309530Mental retardation, X-linked 1309530C2931498OMIM195529059300522
HP:0002465HP:0002465Poor speech0KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM1121824565612452
HP:0002465HP:0002465Poor speech0KAT6A CL E G H7994457193ORPHA154513013601408
HP:0002465HP:0002465Poor speech0KCNAB2 CL E G H85141606ORPHA1916229601142
HP:0002465HP:0002465Poor speech0KCNMA1 CL E G H3778617643CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES617643C4539985OMIM18686284600150
HP:0002465HP:0002465Poor speech0KIF14 CL E G H9928617914MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE617914CN895593OMIM117619181611279
HP:0002465HP:0002465Poor speech0KIF4A CL E G H24137300923Mental retardation, X-linked 100300923C3890167OMIM118413339300521
HP:0002465HP:0002465Poor speech0LAS1L CL E G H818873459ORPHA124325726300964
HP:0002465HP:0002465Poor speech0LINS1 CL E G H55180614340Mental retardation, autosomal recessive 27614340C3280538OMIM125530922610350
HP:0002465HP:0002465Poor speech0MAPT CL E G H4137275864ORPHA15146893157140
HP:0002465HP:0002465Poor speech0MED13L CL E G H23389616789Mental retardation and distinctive facial features with or without cardiac defects616789C4225208OMIM170422962608771
HP:0002465HP:0002465Poor speech0MID2 CL E G H11043300928Mental retardation, X-linked 101300928C3890168OMIM11957096300204
HP:0002465HP:0002465Poor speech0MRPS2 CL E G H51116617950COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 36617950CN244569OMIM16914495611971
HP:0002465HP:0002465Poor speech0MTO1 CL E G H25821614702Combined oxidative phosphorylation deficiency 10614702C3553529OMIM144119261614667
HP:0002465HP:0002465Poor speech0NALCN CL E G H259232615419Hypotonia, infantile, with psychomotor retardation and characteristic facies 1615419C3809454OMIM165319082611549
HP:0002465HP:0002465Poor speech0NDST1 CL E G H3340616116Mental retardation, autosomal recessive 46616116C4015283OMIM11257680600853
HP:0002465HP:0002465Poor speech0NDUFA13 CL E G H51079618249MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28618249OMIM12117194609435
HP:0002465HP:0002465Poor speech0NDUFA6 CL E G H4700618253MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33618253OMIM1567690602138
HP:0002465HP:0002465Poor speech0NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM13327707157655
HP:0002465HP:0002465Poor speech0NUBPL CL E G H80224618242MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21618242OMIM123720278613621
HP:0002465HP:0002465Poor speech0PAK1 CL E G H5058618158INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY618158OMIM1438590602590
HP:0002465HP:0002465Poor speech0PIGC CL E G H5279617816GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 16617816C4540521OMIM1528960601730
HP:0002465HP:0002465Poor speech0PIGH CL E G H5283618010GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17618010CN248527OMIM1188964600154
HP:0002465HP:0002465Poor speech0PLPBP CL E G H11212617290Epilepsy, early-onset, vitamin b6-dependent617290C4310632OMIM1909457604436
HP:0002465HP:0002465Poor speech0POMK CL E G H84197615249Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12615249C3808964OMIM124426267615247
HP:0002465HP:0002465Poor speech0PRDM16 CL E G H639761606ORPHA1108114000605557
HP:0002465HP:0002465Poor speech0PSEN1 CL E G H5663275864ORPHA14529508104311
HP:0002465HP:0002465Poor speech0RAB39B CL E G H116442311510Parkinsonism, early onset with mental retardation311510C0796195OMIM130716499300774
HP:0002465HP:0002465Poor speech0RERE CL E G H4731606ORPHA13439965605226
HP:0002465HP:0002465Poor speech0RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM118713429300379
HP:0002465HP:0002465Poor speech0RNASET2 CL E G H8635612951Leukoencephalopathy, cystic, without megalencephaly612951C2751843OMIM114821686612944
HP:0002465HP:0002465Poor speech0SASS6 CL E G H163786616402Primary autosomal recessive microcephaly 14616402C4225338OMIM18025403609321
HP:0002465HP:0002465Poor speech0SET CL E G H6418618106MENTAL RETARDATION, AUTOSOMAL DOMINANT 58618106CN253713OMIM19310760600960
HP:0002465HP:0002465Poor speech0SKI CL E G H64971606ORPHA191010896164780
HP:0002465HP:0002465Poor speech0SLC35A1 CL E G H10559603585Congenital disorder of glycosylation type 2F603585C1970344OMIM110811021605634
HP:0002465HP:0002465Poor speech0SMARCA2 CL E G H6595601358Nicolaides-Baraitser syndrome601358C1303073OMIM188611098600014
HP:0002465HP:0002465Poor speech0SMC1A CL E G H8243300590Congenital muscular hypertrophy-cerebral syndrome300590C1802395OMIM179811111300040
HP:0002465HP:0002465Poor speech0SMC3 CL E G H9126610759Cornelia de Lange syndrome 3610759C1853099OMIM13582468606062
HP:0002465HP:0002465Poor speech0SNAP25 CL E G H6616616330Myasthenic syndrome, congenital, 18616330C4225364OMIM119111132600322
HP:0002465HP:0002465Poor speech0SOBP CL E G H55084613671Mental retardation, anterior maxillary protrusion, and strabismus613671C3150924OMIM18929256613667
HP:0002465HP:0002465Poor speech0SQSTM1 CL E G H8878275864ORPHA154211280601530
HP:0002465HP:0002465Poor speech0TAF2 CL E G H6873615599Mental retardation, autosomal recessive 40615599C3810080OMIM116911536604912
HP:0002465HP:0002465Poor speech0TAF6 CL E G H6878617126Alazami-Yuan syndrome617126C4310702OMIM18711540602955
HP:0002465HP:0002465Poor speech0TBCK CL E G H93627616900Hypotonia, infantile, with psychomotor retardation and characteristic facies 3616900C4225161OMIM148228261616899
HP:0002465HP:0002465Poor speech0TMEM106B CL E G H54664275864ORPHA18722407613413
HP:0002465HP:0002465Poor speech0TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM177425751614138
HP:0002465HP:0002465Poor speech0TREM2 CL E G H54209275864ORPHA111017761605086
HP:0002465HP:0002465Poor speech0TRIO CL E G H7204617061Mental retardation, autosomal dominant 44617061C4310740OMIM193012303601893
HP:0002465HP:0002465Poor speech0TRMT5 CL E G H57570616539Combined oxidative phosphorylation deficiency 26616539C4225290OMIM19823141611023
HP:0002465HP:0002465Poor speech0TUBB3 CL E G H10381300570ORPHA124720772602661
HP:0002465HP:0002465Poor speech0TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM121920774602662
HP:0002465HP:0002465Poor speech0UBE2A CL E G H7319300860Syndromic mental retardation, Nascimento type, X-linked300860C3275464OMIM120712472312180
HP:0002465HP:0002465Poor speech0UNC80 CL E G H285175616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 2616801C4225203OMIM1116626582612636
HP:0002465HP:0002465Poor speech0UQCC2 CL E G H84300615824Mitochondrial complex III deficiency, nuclear type 7615824C4014408OMIM14921237614461
HP:0002465HP:0002465Poor speech0VCP CL E G H7415275864ORPHA147312666601023
HP:0002465HP:0002465Poor speech0VLDLR CL E G H7436224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1224050CN074243OMIM150712698192977
HP:0002465HP:0002465Poor speech0VPS11 CL E G H55823466934ORPHA113914583608549
HP:0002465HP:0002465Poor speech0VPS11 CL E G H55823616683Leukodystrophy, hypomyelinating, 12616683C4225247OMIM113914583608549
HP:0002465HP:0002465Poor speech0WDR45 CL E G H11152329284ORPHA150428912300526
HP:0002465HP:0002465Poor speech0WDR45 CL E G H11152300894Neurodegeneration with brain iron accumulation 5300894C3550973OMIM150428912300526
HP:0002465HP:0002465Poor speech0WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM113825928616144
HP:0002465HP:0002465Poor speech0ZNF148 CL E G H7707617260Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies617260C4310644OMIM16312933601897
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002465HP:0002465Poor speech0ATP6V1B2 CL E G H52679499ORPHA0129854606939
HP:0002465HP:0002465Poor speech0FRMD4A CL E G H55691466688ORPHA05725491616305


Genes (105) :ADD3 ADK ADPRHL2 ALG9 AP1S2 AP4B1 AP4E1 AP4M1 AP4S1 APC2 ATAD3A ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 C9ORF72 C9orf72 CAD CCDC22 CHKB CHMP1A CHMP2B CIC CNNM2 CNTNAP2 DIAPH1 DLAT EGF EIF2S3 EXT2 FGF12 FMN2 FOXRED1 FRMD4A GABRD GATA4 GATAD2B GJC2 GPAA1 GPR88 GRID2 GRN GUSB HDAC8 HNRNPK IQSEC2 KANSL1 KAT6A KCNAB2 KCNMA1 KIF14 KIF4A LAS1L LINS1 MAPT MED13L MID2 MRPS2 MTO1 NALCN NDST1 NDUFA13 NDUFA6 NDUFS1 NUBPL PAK1 PIGC PIGH PLPBP POMK PRDM16 PSEN1 RAB39B RERE RLIM RNASET2 SASS6 SET SKI SLC35A1 SMARCA2 SMC1A SMC3 SNAP25 SOBP SQSTM1 TAF2 TAF6 TBCK TMEM106B TRAPPC11 TREM2 TRIO TRMT5 TUBB3 TUBB4A UBE2A UNC80 UQCC2 VCP VLDLR VPS11 WDR45 WDR73 ZNF148

Diseases (87) :617008 614300 618170 608776 85335 280763 617169 496790 357074 79499 275864 616457 300963 602541 614961 617600 34527 610042 616632 245348 300148 616682 617166 616193 618241 466688 1606 251071 615074 608804 617810 616939 616204 253220 3459 616580 309530 610443 457193 617643 617914 300923 614340 616789 300928 617950 614702 615419 616116 618249 618253 618226 618242 618158 617816 618010 617290 615249 311510 300978 612951 616402 618106 603585 601358 300590 610759 616330 613671 615599 617126 616900 615356 617061 616539 300570 612438 300860 616801 615824 224050 466934 616683 329284 300894 251300 617260
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.