Human Phenotype Ontology 
Grandparent Node:
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Abnormality of higher mental function (HP:0011446)help
Parent Node:
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Neurological speech impairment (HP:0002167)help
..Starting node
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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, 3617008C4310767OMIM188245601568
HP:0002465HP:0002465Poor speech0ADD3 CL E G H120617008Cerebral palsy, spastic quadriplegic, 3617008C4310767OMIM152245601568
HP:0002465HP:0002465Poor speech0ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM179257102750
HP:0002465HP:0002465Poor speech0ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM173257102750
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 glycosylation608776C2931006OMIM122215672606941
HP:0002465HP:0002465Poor speech0ALG9 CL E G H79796608776ALG9 congenital disorder of glycosylation608776C2931006OMIM121215672606941
HP:0002465HP:0002465Poor speech0AP1S2 CL E G H890585335ORPHA1219560300629
HP:0002465HP:0002465Poor speech0AP1S2 CL E G H890585335ORPHA1216560300629
HP:0002465HP:0002465Poor speech0AP4B1 CL E G H10717280763ORPHA1189572607245
HP:0002465HP:0002465Poor speech0AP4B1 CL E G H10717280763ORPHA1254572607245
HP:0002465HP:0002465Poor speech0AP4E1 CL E G H23431280763ORPHA1332573607244
HP:0002465HP:0002465Poor speech0AP4E1 CL E G H23431280763ORPHA1238573607244
HP:0002465HP:0002465Poor speech0AP4M1 CL E G H9179280763ORPHA1199574602296
HP:0002465HP:0002465Poor speech0AP4M1 CL E G H9179280763ORPHA1264574602296
HP:0002465HP:0002465Poor speech0AP4S1 CL E G H11154280763ORPHA1110575607243
HP:0002465HP:0002465Poor speech0AP4S1 CL E G H11154280763ORPHA189575607243
HP:0002465HP:0002465Poor speech0APC2 CL E G H10297617169Sotos syndrome 3617169C4310684OMIM119424036612034
HP:0002465HP:0002465Poor speech0APC2 CL E G H10297617169Sotos syndrome 3617169C4310684OMIM117924036612034
HP:0002465HP:0002465Poor speech0ATAD3A CL E G H55210496790ORPHA125025567612316
HP:0002465HP:0002465Poor speech0ATAD3A CL E G H55210496790ORPHA126425567612316
HP:0002465HP:0002465Poor speech0ATP6V0A2 CL E G H23545357074ORPHA141718481611716
HP:0002465HP:0002465Poor speech0ATP6V0A2 CL E G H23545357074ORPHA145818481611716
HP:0002465HP:0002465Poor speech0ATP6V1A CL E G H523357074ORPHA193851607027
HP:0002465HP:0002465Poor speech0ATP6V1A CL E G H523357074ORPHA179851607027
HP:0002465HP:0002465Poor speech0ATP6V1E1 CL E G H529357074ORPHA1160857108746
HP:0002465HP:0002465Poor speech0ATP6V1E1 CL E G H529357074ORPHA1168857108746
HP:0002465HP:0002465Poor speech0C9orf72 CL E G H203228275864ORPHA116528337614260
HP:0002465HP:0002465Poor speech0C9orf72 CL E G H203228275864ORPHA116128337614260
HP:0002465HP:0002465Poor speech0CAD CL E G H790616457Epileptic encephalopathy, early infantile, 50616457C4225320OMIM15621424114010
HP:0002465HP:0002465Poor speech0CAD CL E G H790616457Epileptic encephalopathy, early infantile, 50616457C4225320OMIM12181424114010
HP:0002465HP:0002465Poor speech0CCDC22 CL E G H28952300963Ritscher-schinzel syndrome 2300963C4225419OMIM125028909300859
HP:0002465HP:0002465Poor speech0CCDC22 CL E G H28952300963Ritscher-schinzel syndrome 2300963C4225419OMIM124228909300859
HP:0002465HP:0002465Poor speech0CHKB CL E G H1120602541Muscular dystrophy, congenital, megaconial type602541C1865233OMIM13821938612395
HP:0002465HP:0002465Poor speech0CHKB CL E G H1120602541Muscular dystrophy, congenital, megaconial type602541C1865233OMIM13351938612395
HP:0002465HP:0002465Poor speech0CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM11838740164010
HP:0002465HP:0002465Poor speech0CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM11728740164010
HP:0002465HP:0002465Poor speech0CHMP2B CL E G H25978275864ORPHA111024537609512
HP:0002465HP:0002465Poor speech0CHMP2B CL E G H25978275864ORPHA113024537609512
HP:0002465HP:0002465Poor speech0CIC CL E G H23152617600MENTAL RETARDATION, AUTOSOMAL DOMINANT 45617600C4539848OMIM121214214612082
HP:0002465HP:0002465Poor speech0CIC CL E G H23152617600MENTAL RETARDATION, AUTOSOMAL DOMINANT 45617600C4539848OMIM119114214612082
HP:0002465HP:0002465Poor speech0CNNM2 CL E G H5480534527ORPHA1176103607803
HP:0002465HP:0002465Poor speech0CNNM2 CL E G H5480534527ORPHA1191103607803
HP:0002465HP:0002465Poor speech0CNTNAP2 CL E G H26047610042Pitt-Hopkins-like syndrome 1610042C2750246OMIM1150513830604569
HP:0002465HP:0002465Poor speech0CNTNAP2 CL E G H26047610042Pitt-Hopkins-like syndrome 1610042C2750246OMIM1133913830604569
HP:0002465HP:0002465Poor speech0DIAPH1 CL E G H1729616632Seizures, cortical blindness, and microcephaly syndrome616632C4225261OMIM17582876602121
HP:0002465HP:0002465Poor speech0DIAPH1 CL E G H1729616632Seizures, cortical blindness, and microcephaly syndrome616632C4225261OMIM15542876602121
HP:0002465HP:0002465Poor speech0DLAT CL E G H1737245348Pyruvate dehydrogenase E2 deficiency245348C1855565OMIM11992896608770
HP:0002465HP:0002465Poor speech0DLAT CL E G H1737245348Pyruvate dehydrogenase E2 deficiency245348C1855565OMIM11682896608770
HP:0002465HP:0002465Poor speech0EGF CL E G H195034527ORPHA13053229131530
HP:0002465HP:0002465Poor speech0EGF CL E G H195034527ORPHA12803229131530
HP:0002465HP:0002465Poor speech0EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM11963267300161
HP:0002465HP:0002465Poor speech0EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM11903267300161
HP:0002465HP:0002465Poor speech0EXT2 CL E G H2132616682Seizures, scoliosis, and macrocephaly syndrome616682C4225248OMIM14663513608210
HP:0002465HP:0002465Poor speech0EXT2 CL E G H2132616682Seizures, scoliosis, and macrocephaly syndrome616682C4225248OMIM13793513608210
HP:0002465HP:0002465Poor speech0FGF12 CL E G H2257617166Epileptic encephalopathy, early infantile, 47617166C4310685OMIM11633668601513
HP:0002465HP:0002465Poor speech0FGF12 CL E G H2257617166Epileptic encephalopathy, early infantile, 47617166C4310685OMIM11273668601513
HP:0002465HP:0002465Poor speech0FMN2 CL E G H56776616193Mental retardation, autosomal recessive 47616193C4015444OMIM121014074606373
HP:0002465HP:0002465Poor speech0FMN2 CL E G H56776616193Mental retardation, autosomal recessive 47616193C4015444OMIM120214074606373
HP:0002465HP:0002465Poor speech0FOXRED1 CL E G H55572618241MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19618241OMIM123126927613622
HP:0002465HP:0002465Poor speech0FOXRED1 CL E G H55572618241MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19618241OMIM121026927613622
HP:0002465HP:0002465Poor speech0GABRD CL E G H25631606ORPHA13614084137163
HP:0002465HP:0002465Poor speech0GABRD CL E G H25631606ORPHA13404084137163
HP:0002465HP:0002465Poor speech0GATA4 CL E G H2626251071ORPHA14644173600576
HP:0002465HP:0002465Poor speech0GATA4 CL E G H2626251071ORPHA15414173600576
HP:0002465HP:0002465Poor speech0GATAD2B CL E G H57459615074Mental retardation, autosomal dominant 18615074C3554448OMIM121230778614998
HP:0002465HP:0002465Poor speech0GATAD2B CL E G H57459615074Mental retardation, autosomal dominant 18615074C3554448OMIM115930778614998
HP:0002465HP:0002465Poor speech0GJC2 CL E G H57165608804Leukodystrophy, hypomyelinating, 2608804C1837355OMIM122117494608803
HP:0002465HP:0002465Poor speech0GJC2 CL E G H57165608804Leukodystrophy, hypomyelinating, 2608804C1837355OMIM117417494608803
HP:0002465HP:0002465Poor speech0GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM12274446603048
HP:0002465HP:0002465Poor speech0GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM1954446603048
HP:0002465HP:0002465Poor speech0GPR88 CL E G H54112616939Chorea, childhood-onset, with psychomotor retardation616939C4310787OMIM1274539607468
HP:0002465HP:0002465Poor speech0GPR88 CL E G H54112616939Chorea, childhood-onset, with psychomotor retardation616939C4310787OMIM1184539607468
HP:0002465HP:0002465Poor speech0GRID2 CL E G H2895616204Spinocerebellar ataxia, autosomal recessive 18616204C4015505OMIM11514576602368
HP:0002465HP:0002465Poor speech0GRID2 CL E G H2895616204Spinocerebellar ataxia, autosomal recessive 18616204C4015505OMIM11444576602368
HP:0002465HP:0002465Poor speech0GRN CL E G H2896275864ORPHA13584601138945
HP:0002465HP:0002465Poor speech0GRN CL E G H2896275864ORPHA13024601138945
HP:0002465HP:0002465Poor speech0GUSB CL E G H2990253220Mucopolysaccharidosis type VII253220C0085132OMIM12304696611499
HP:0002465HP:0002465Poor speech0GUSB CL E G H2990253220Mucopolysaccharidosis type VII253220C0085132OMIM11934696611499
HP:0002465HP:0002465Poor speech0HDAC8 CL E G H558693459ORPHA126913315300269
HP:0002465HP:0002465Poor speech0HDAC8 CL E G H558693459ORPHA128713315300269
HP:0002465HP:0002465Poor speech0HNRNPK CL E G H3190616580AU-KLINE SYNDROME616580C4225274OMIM11115044600712
HP:0002465HP:0002465Poor speech0HNRNPK CL E G H3190616580AU-KLINE SYNDROME616580C4225274OMIM11085044600712
HP:0002465HP:0002465Poor speech0IQSEC2 CL E G H23096309530Mental retardation, X-linked 1309530C2931498OMIM183229059300522
HP:0002465HP:0002465Poor speech0IQSEC2 CL E G H23096309530Mental retardation, X-linked 1309530C2931498OMIM175329059300522
HP:0002465HP:0002465Poor speech0KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM1114324565612452
HP:0002465HP:0002465Poor speech0KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM1104724565612452
HP:0002465HP:0002465Poor speech0KAT6A CL E G H7994457193ORPHA142713013601408
HP:0002465HP:0002465Poor speech0KAT6A CL E G H7994457193ORPHA140013013601408
HP:0002465HP:0002465Poor speech0KCNAB2 CL E G H85141606ORPHA1886229601142
HP:0002465HP:0002465Poor speech0KCNAB2 CL E G H85141606ORPHA1916229601142
HP:0002465HP:0002465Poor speech0KCNMA1 CL E G H3778617643CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES617643C4539985OMIM17206284600150
HP:0002465HP:0002465Poor speech0KCNMA1 CL E G H3778617643CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES617643C4539985OMIM16326284600150
HP:0002465HP:0002465Poor speech0KIF14 CL E G H9928617914MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE617914CN895593OMIM115119181611279
HP:0002465HP:0002465Poor speech0KIF14 CL E G H9928617914MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE617914CN895593OMIM113519181611279
HP:0002465HP:0002465Poor speech0KIF4A CL E G H24137300923Mental retardation, X-linked 100300923C3890167OMIM118213339300521
HP:0002465HP:0002465Poor speech0KIF4A CL E G H24137300923Mental retardation, X-linked 100300923C3890167OMIM117913339300521
HP:0002465HP:0002465Poor speech0LAS1L CL E G H818873459ORPHA122025726300964
HP:0002465HP:0002465Poor speech0LAS1L CL E G H818873459ORPHA121125726300964
HP:0002465HP:0002465Poor speech0LINS1 CL E G H55180614340Mental retardation, autosomal recessive 27614340C3280538OMIM121830922610350
HP:0002465HP:0002465Poor speech0LINS1 CL E G H55180614340Mental retardation, autosomal recessive 27614340C3280538OMIM121530922610350
HP:0002465HP:0002465Poor speech0MAPT CL E G H4137275864ORPHA14656893157140
HP:0002465HP:0002465Poor speech0MAPT CL E G H4137275864ORPHA14886893157140
HP:0002465HP:0002465Poor speech0MED13L CL E G H23389616789Mental retardation and distinctive facial features with or without cardiac defects616789C4225208OMIM159622962608771
HP:0002465HP:0002465Poor speech0MED13L CL E G H23389616789Mental retardation and distinctive facial features with or without cardiac defects616789C4225208OMIM156622962608771
HP:0002465HP:0002465Poor speech0MID2 CL E G H11043300928Mental retardation, X-linked 101300928C3890168OMIM11967096300204
HP:0002465HP:0002465Poor speech0MID2 CL E G H11043300928Mental retardation, X-linked 101300928C3890168OMIM11927096300204
HP:0002465HP:0002465Poor speech0MRPS2 CL E G H51116617950COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 36617950CN244569OMIM16214495611971
HP:0002465HP:0002465Poor speech0MRPS2 CL E G H51116617950COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 36617950CN244569OMIM16014495611971
HP:0002465HP:0002465Poor speech0MTO1 CL E G H25821614702Combined oxidative phosphorylation deficiency 10614702C3553529OMIM136219261614667
HP:0002465HP:0002465Poor speech0MTO1 CL E G H25821614702Combined oxidative phosphorylation deficiency 10614702C3553529OMIM121819261614667
HP:0002465HP:0002465Poor speech0NALCN CL E G H259232615419Hypotonia, infantile, with psychomotor retardation and characteristic facies 1615419C3809454OMIM159019082611549
HP:0002465HP:0002465Poor speech0NALCN CL E G H259232615419Hypotonia, infantile, with psychomotor retardation and characteristic facies 1615419C3809454OMIM157319082611549
HP:0002465HP:0002465Poor speech0NDST1 CL E G H3340616116Mental retardation, autosomal recessive 46616116C4015283OMIM11087680600853
HP:0002465HP:0002465Poor speech0NDST1 CL E G H3340616116Mental retardation, autosomal recessive 46616116C4015283OMIM1987680600853
HP:0002465HP:0002465Poor speech0NDUFA13 CL E G H51079618249MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28618249OMIM11917194609435
HP:0002465HP:0002465Poor speech0NDUFA13 CL E G H51079618249MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28618249OMIM11817194609435
HP:0002465HP:0002465Poor speech0NDUFA6 CL E G H4700618253MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33618253OMIM1487690602138
HP:0002465HP:0002465Poor speech0NDUFA6 CL E G H4700618253MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33618253OMIM1537690602138
HP:0002465HP:0002465Poor speech0NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM12637707157655
HP:0002465HP:0002465Poor speech0NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM13017707157655
HP:0002465HP:0002465Poor speech0NUBPL CL E G H80224618242MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21618242OMIM122220278613621
HP:0002465HP:0002465Poor speech0NUBPL CL E G H80224618242MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21618242OMIM123120278613621
HP:0002465HP:0002465Poor speech0PAK1 CL E G H5058618158INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY618158OMIM1348590602590
HP:0002465HP:0002465Poor speech0PAK1 CL E G H5058618158INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY618158OMIM1318590602590
HP:0002465HP:0002465Poor speech0PIGC CL E G H5279617816GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 16617816C4540521OMIM1488960601730
HP:0002465HP:0002465Poor speech0PIGC CL E G H5279617816GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 16617816C4540521OMIM1408960601730
HP:0002465HP:0002465Poor speech0PIGH CL E G H5283618010GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17618010CN248527OMIM1178964600154
HP:0002465HP:0002465Poor speech0PIGH CL E G H5283618010GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17618010CN248527OMIM1168964600154
HP:0002465HP:0002465Poor speech0PLPBP CL E G H11212617290Epilepsy, early-onset, vitamin b6-dependent617290C4310632OMIM1829457604436
HP:0002465HP:0002465Poor speech0PLPBP CL E G H11212617290Epilepsy, early-onset, vitamin b6-dependent617290C4310632OMIM1809457604436
HP:0002465HP:0002465Poor speech0POMK CL E G H84197615249Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12615249C3808964OMIM122426267615247
HP:0002465HP:0002465Poor speech0POMK CL E G H84197615249Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12615249C3808964OMIM119226267615247
HP:0002465HP:0002465Poor speech0PRDM16 CL E G H639761606ORPHA198614000605557
HP:0002465HP:0002465Poor speech0PRDM16 CL E G H639761606ORPHA188614000605557
HP:0002465HP:0002465Poor speech0PSEN1 CL E G H5663275864ORPHA14319508104311
HP:0002465HP:0002465Poor speech0PSEN1 CL E G H5663275864ORPHA14089508104311
HP:0002465HP:0002465Poor speech0RAB39B CL E G H116442311510Parkinsonism, early onset with mental retardation311510C0796195OMIM130316499300774
HP:0002465HP:0002465Poor speech0RAB39B CL E G H116442311510Parkinsonism, early onset with mental retardation311510C0796195OMIM129116499300774
HP:0002465HP:0002465Poor speech0RERE CL E G H4731606ORPHA12299965605226
HP:0002465HP:0002465Poor speech0RERE CL E G H4731606ORPHA12579965605226
HP:0002465HP:0002465Poor speech0RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM118513429300379
HP:0002465HP:0002465Poor speech0RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM118113429300379
HP:0002465HP:0002465Poor speech0RNASET2 CL E G H8635612951Leukoencephalopathy, cystic, without megalencephaly612951C2751843OMIM112321686612944
HP:0002465HP:0002465Poor speech0RNASET2 CL E G H8635612951Leukoencephalopathy, cystic, without megalencephaly612951C2751843OMIM111521686612944
HP:0002465HP:0002465Poor speech0SASS6 CL E G H163786616402Primary autosomal recessive microcephaly 14616402C4225338OMIM17725403609321
HP:0002465HP:0002465Poor speech0SASS6 CL E G H163786616402Primary autosomal recessive microcephaly 14616402C4225338OMIM17625403609321
HP:0002465HP:0002465Poor speech0SET CL E G H6418618106MENTAL RETARDATION, AUTOSOMAL DOMINANT 58618106CN253713OMIM18510760600960
HP:0002465HP:0002465Poor speech0SET CL E G H6418618106MENTAL RETARDATION, AUTOSOMAL DOMINANT 58618106CN253713OMIM18210760600960
HP:0002465HP:0002465Poor speech0SKI CL E G H64971606ORPHA168610896164780
HP:0002465HP:0002465Poor speech0SKI CL E G H64971606ORPHA162910896164780
HP:0002465HP:0002465Poor speech0SLC35A1 CL E G H10559603585Congenital disorder of glycosylation type 2F603585C1970344OMIM19711021605634
HP:0002465HP:0002465Poor speech0SLC35A1 CL E G H10559603585Congenital disorder of glycosylation type 2F603585C1970344OMIM19111021605634
HP:0002465HP:0002465Poor speech0SMARCA2 CL E G H6595601358Nicolaides-Baraitser syndrome601358C1303073OMIM176711098600014
HP:0002465HP:0002465Poor speech0SMARCA2 CL E G H6595601358Nicolaides-Baraitser syndrome601358C1303073OMIM174011098600014
HP:0002465HP:0002465Poor speech0SMC1A CL E G H8243300590Congenital muscular hypertrophy-cerebral syndrome300590C1802395OMIM169011111300040
HP:0002465HP:0002465Poor speech0SMC1A CL E G H8243300590Congenital muscular hypertrophy-cerebral syndrome300590C1802395OMIM163511111300040
HP:0002465HP:0002465Poor speech0SMC3 CL E G H9126610759Cornelia de Lange syndrome 3610759C1853099OMIM13222468606062
HP:0002465HP:0002465Poor speech0SMC3 CL E G H9126610759Cornelia de Lange syndrome 3610759C1853099OMIM13112468606062
HP:0002465HP:0002465Poor speech0SNAP25 CL E G H6616616330Myasthenic syndrome, congenital, 18616330C4225364OMIM114811132600322
HP:0002465HP:0002465Poor speech0SNAP25 CL E G H6616616330Myasthenic syndrome, congenital, 18616330C4225364OMIM112711132600322
HP:0002465HP:0002465Poor speech0SOBP CL E G H55084613671Mental retardation, anterior maxillary protrusion, and strabismus613671C3150924OMIM18629256613667
HP:0002465HP:0002465Poor speech0SOBP CL E G H55084613671Mental retardation, anterior maxillary protrusion, and strabismus613671C3150924OMIM18329256613667
HP:0002465HP:0002465Poor speech0SQSTM1 CL E G H8878275864ORPHA138311280601530
HP:0002465HP:0002465Poor speech0SQSTM1 CL E G H8878275864ORPHA147311280601530
HP:0002465HP:0002465Poor speech0TAF2 CL E G H6873615599Mental retardation, autosomal recessive 40615599C3810080OMIM112211536604912
HP:0002465HP:0002465Poor speech0TAF2 CL E G H6873615599Mental retardation, autosomal recessive 40615599C3810080OMIM19011536604912
HP:0002465HP:0002465Poor speech0TAF6 CL E G H6878617126Alazami-Yuan syndrome617126C4310702OMIM18211540602955
HP:0002465HP:0002465Poor speech0TAF6 CL E G H6878617126Alazami-Yuan syndrome617126C4310702OMIM18011540602955
HP:0002465HP:0002465Poor speech0TBCK CL E G H93627616900Hypotonia, infantile, with psychomotor retardation and characteristic facies 3616900C4225161OMIM135328261616899
HP:0002465HP:0002465Poor speech0TBCK CL E G H93627616900Hypotonia, infantile, with psychomotor retardation and characteristic facies 3616900C4225161OMIM117928261616899
HP:0002465HP:0002465Poor speech0TMEM106B CL E G H54664275864ORPHA17422407613413
HP:0002465HP:0002465Poor speech0TMEM106B CL E G H54664275864ORPHA16222407613413
HP:0002465HP:0002465Poor speech0TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM167325751614138
HP:0002465HP:0002465Poor speech0TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM157325751614138
HP:0002465HP:0002465Poor speech0TREM2 CL E G H54209275864ORPHA16417761605086
HP:0002465HP:0002465Poor speech0TREM2 CL E G H54209275864ORPHA19417761605086
HP:0002465HP:0002465Poor speech0TRIO CL E G H7204617061Mental retardation, autosomal dominant 44617061C4310740OMIM182412303601893
HP:0002465HP:0002465Poor speech0TRIO CL E G H7204617061Mental retardation, autosomal dominant 44617061C4310740OMIM179212303601893
HP:0002465HP:0002465Poor speech0TRMT5 CL E G H57570616539Combined oxidative phosphorylation deficiency 26616539C4225290OMIM17523141611023
HP:0002465HP:0002465Poor speech0TRMT5 CL E G H57570616539Combined oxidative phosphorylation deficiency 26616539C4225290OMIM15123141611023
HP:0002465HP:0002465Poor speech0TUBB3 CL E G H10381300570ORPHA120520772602661
HP:0002465HP:0002465Poor speech0TUBB3 CL E G H10381300570ORPHA121720772602661
HP:0002465HP:0002465Poor speech0TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM118120774602662
HP:0002465HP:0002465Poor speech0TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM116820774602662
HP:0002465HP:0002465Poor speech0UBE2A CL E G H7319300860Syndromic mental retardation, Nascimento type, X-linked300860C3275464OMIM120412472312180
HP:0002465HP:0002465Poor speech0UBE2A CL E G H7319300860Syndromic mental retardation, Nascimento type, X-linked300860C3275464OMIM120112472312180
HP:0002465HP:0002465Poor speech0UNC80 CL E G H285175616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 2616801C4225203OMIM176526582612636
HP:0002465HP:0002465Poor speech0UNC80 CL E G H285175616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 2616801C4225203OMIM126326582612636
HP:0002465HP:0002465Poor speech0UQCC2 CL E G H84300615824Mitochondrial complex III deficiency, nuclear type 7615824C4014408OMIM14721237614461
HP:0002465HP:0002465Poor speech0UQCC2 CL E G H84300615824Mitochondrial complex III deficiency, nuclear type 7615824C4014408OMIM14521237614461
HP:0002465HP:0002465Poor speech0VCP CL E G H7415275864ORPHA139512666601023
HP:0002465HP:0002465Poor speech0VCP CL E G H7415275864ORPHA135612666601023
HP:0002465HP:0002465Poor speech0VLDLR CL E G H7436224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1224050CN074243OMIM147712698192977
HP:0002465HP:0002465Poor speech0VLDLR CL E G H7436224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1224050CN074243OMIM146112698192977
HP:0002465HP:0002465Poor speech0VPS11 CL E G H55823466934ORPHA110514583608549
HP:0002465HP:0002465Poor speech0VPS11 CL E G H55823466934ORPHA17214583608549
HP:0002465HP:0002465Poor speech0VPS11 CL E G H55823616683Leukodystrophy, hypomyelinating, 12616683C4225247OMIM110514583608549
HP:0002465HP:0002465Poor speech0VPS11 CL E G H55823616683Leukodystrophy, hypomyelinating, 12616683C4225247OMIM17214583608549
HP:0002465HP:0002465Poor speech0WDR45 CL E G H11152329284ORPHA146428912300526
HP:0002465HP:0002465Poor speech0WDR45 CL E G H11152329284ORPHA143128912300526
HP:0002465HP:0002465Poor speech0WDR45 CL E G H11152300894Neurodegeneration with brain iron accumulation 5300894C3550973OMIM146428912300526
HP:0002465HP:0002465Poor speech0WDR45 CL E G H11152300894Neurodegeneration with brain iron accumulation 5300894C3550973OMIM143128912300526
HP:0002465HP:0002465Poor speech0WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM113125928616144
HP:0002465HP:0002465Poor speech0WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM112925928616144
HP:0002465HP:0002465Poor speech0ZNF148 CL E G H7707617260Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies617260C4310644OMIM15712933601897
HP:0002465HP:0002465Poor speech0ZNF148 CL E G H7707617260Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies617260C4310644OMIM15312933601897
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002465HP:0002465Poor speech0ATP6V1B2 CL E G H52679499ORPHA0115854606939
HP:0002465HP:0002465Poor speech0ATP6V1B2 CL E G H52679499ORPHA0118854606939
HP:0002465HP:0002465Poor speech0FRMD4A CL E G H55691466688ORPHA05725491616305
HP:0002465HP:0002465Poor speech0FRMD4A CL E G H55691466688ORPHA05825491616305


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.