Human Phenotype Ontology 
Grandparent Node:
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Abnormal nervous system physiology (HP:0012638)help
Parent Node:
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Abnormal central motor function (HP:0011442)help
Parent Node:
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Abnormality of higher mental function (HP:0011446)help
..Starting node
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Apraxia (HP:0002186)help
Term ID: 2186
Name: Apraxia
Synonym: Apraxias
Definition: A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements.
Comments:
Reference: HP:0002186
Genes and Diseases:
 
       Child Nodes:
........expandOculomotor apraxia (HP:0000657) help
........expandEyelid apraxia (HP:0000658) help
........expandOromotor apraxia (HP:0007301) help
........expandGait apraxia (HP:0010521) help
........expandSpeech apraxia (HP:0011098) help
........expandLimb apraxia (HP:0030217) help

 Sister Nodes: 
..expandAgnosia (HP:0010524) help
..expandCognitive impairment (HP:0100543) help
..expandLanguage impairment (HP:0002463) help
..expandMicrographia (HP:0031908) help
..expandNeurological speech impairment (HP:0002167) help
..expandOptic ataxia (HP:0031868) help
..expandReduced consciousness/confusion (HP:0004372) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002186HP:0002186Apraxia0AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM142921022612035
HP:0002186HP:0002186Apraxia0ANKRD55 CL E G H7972285408ORPHA12125681615189
HP:0002186HP:0002186Apraxia0ATP1A2 CL E G H477602481Familial hemiplegic migraine type 2602481C1865322OMIM1918800182340
HP:0002186HP:0002186Apraxia0ATP6AP2 CL E G H10159300423Mental retardation, X-linked, syndromic, Hedera type300423C1845543OMIM130318305300556
HP:0002186HP:0002186Apraxia0C9orf72 CL E G H203228275872ORPHA117328337614260
HP:0002186HP:0002186Apraxia0C9orf72 CL E G H203228100070ORPHA117328337614260
HP:0002186HP:0002186Apraxia0C9orf72 CL E G H203228105550Amyotrophic lateral sclerosis and/or frontotemporal dementia 1105550C1862937OMIM117328337614260
HP:0002186HP:0002186Apraxia0CD247 CL E G H91985408ORPHA11451677186780
HP:0002186HP:0002186Apraxia0CHCHD10 CL E G H400916275872ORPHA124815559615903
HP:0002186HP:0002186Apraxia0CHMP2B CL E G H25978100070ORPHA114124537609512
HP:0002186HP:0002186Apraxia0CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM15182433164770
HP:0002186HP:0002186Apraxia0EBF3 CL E G H253738617330Hypotonia, ataxia, and delayed development syndrome617330C4310618OMIM122919087607407
HP:0002186HP:0002186Apraxia0EPM2A CL E G H7957254780Lafora disease254780C0751783OMIM13753413607566
HP:0002186HP:0002186Apraxia0FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM16143811164874
HP:0002186HP:0002186Apraxia0FOXP1 CL E G H27086613670Mental retardation with language impairment and with or without autistic features613670C3150923OMIM14493823605515
HP:0002186HP:0002186Apraxia0FUS CL E G H2521275872ORPHA14094010137070
HP:0002186HP:0002186Apraxia0GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM13534446603048
HP:0002186HP:0002186Apraxia0GRN CL E G H2896100070ORPHA14174601138945
HP:0002186HP:0002186Apraxia0GRN CL E G H2896607485Frontotemporal dementia, ubiquitin-positive607485C1843792OMIM14174601138945
HP:0002186HP:0002186Apraxia0IL2RA CL E G H355985408ORPHA12656008147730
HP:0002186HP:0002186Apraxia0IL2RB CL E G H356085408ORPHA12046009146710
HP:0002186HP:0002186Apraxia0MAPT CL E G H4137100070ORPHA15146893157140
HP:0002186HP:0002186Apraxia0MECP2 CL E G H4204778ORPHA117786990300005
HP:0002186HP:0002186Apraxia0NHLRC1 CL E G H378884254780Lafora disease254780C0751783OMIM130721576608072
HP:0002186HP:0002186Apraxia0PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM15989039603604
HP:0002186HP:0002186Apraxia0PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11649449176640
HP:0002186HP:0002186Apraxia0PSEN1 CL E G H5663100070ORPHA14529508104311
HP:0002186HP:0002186Apraxia0PSEN1 CL E G H5663607822Alzheimer disease, type 3607822C1843013OMIM14529508104311
HP:0002186HP:0002186Apraxia0PTPN2 CL E G H577185408ORPHA1849650176887
HP:0002186HP:0002186Apraxia0PTPN22 CL E G H2619185408ORPHA1349652600716
HP:0002186HP:0002186Apraxia0SNX14 CL E G H57231616354Spinocerebellar ataxia, autosomal recessive 20616354C4225355OMIM116214977616105
HP:0002186HP:0002186Apraxia0SPG21 CL E G H51324101001ORPHA114520373608181
HP:0002186HP:0002186Apraxia0SQSTM1 CL E G H8878275872ORPHA154211280601530
HP:0002186HP:0002186Apraxia0STAT4 CL E G H677585408ORPHA119411365600558
HP:0002186HP:0002186Apraxia0TARDBP CL E G H23435275872ORPHA125911571605078
HP:0002186HP:0002186Apraxia0TBK1 CL E G H29110275872ORPHA129411584604834
HP:0002186HP:0002186Apraxia0TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM111611588600075
HP:0002186HP:0002186Apraxia0TMEM106B CL E G H54664100070ORPHA18722407613413
HP:0002186HP:0002186Apraxia0TREM2 CL E G H54209100070ORPHA111017761605086
HP:0002186HP:0002186Apraxia0TREX1 CL E G H11277247691ORPHA132712269606609
HP:0002186HP:0002186Apraxia0TREX1 CL E G H11277192315Vasculopathy, retinal, with cerebral leukodystrophy192315C1860518OMIM132712269606609
HP:0002186HP:0002186Apraxia0TTC19 CL E G H54902615157Mitochondrial complex III deficiency, nuclear type 2615157C3554605OMIM126326006613814
HP:0002186HP:0002186Apraxia0TYROBP CL E G H7305221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy221770C1857316OMIM18512449604142
HP:0002186HP:0002186Apraxia0UBE3A CL E G H7337238446ORPHA199312496601623
HP:0002186HP:0002186Apraxia0VCP CL E G H7415100070ORPHA147312666601023
HP:0002186HP:0002186Apraxia0VCP CL E G H7415275872ORPHA147312666601023
HP:0002186HP:0002186Apraxia0XRCC4 CL E G H7518616541Short stature, microcephaly, and endocrine dysfunction616541C4225288OMIM18612831194363
HP:0002186HP:0000657Oculomotor apraxia1AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM142921022612035
HP:0002186HP:0007301Oromotor apraxia1AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM142921022612035
HP:0002186HP:0000658Eyelid apraxia1AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM142921022612035
HP:0002186HP:0030217Limb apraxia1AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM142921022612035
HP:0002186HP:0032588Hand apraxia1AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM142921022612035
HP:0002186HP:0010521Gait apraxia1AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM142921022612035
HP:0002186HP:0011098Speech apraxia1AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM142921022612035
HP:0002186HP:0000657Oculomotor apraxia1ANKRD55 CL E G H7972285408ORPHA12125681615189
HP:0002186HP:0007301Oromotor apraxia1ANKRD55 CL E G H7972285408ORPHA12125681615189
HP:0002186HP:0000658Eyelid apraxia1ANKRD55 CL E G H7972285408ORPHA12125681615189
HP:0002186HP:0030217Limb apraxia1ANKRD55 CL E G H7972285408ORPHA12125681615189
HP:0002186HP:0032588Hand apraxia1ANKRD55 CL E G H7972285408ORPHA12125681615189
HP:0002186HP:0010521Gait apraxia1ANKRD55 CL E G H7972285408ORPHA12125681615189
HP:0002186HP:0011098Speech apraxia1ANKRD55 CL E G H7972285408ORPHA12125681615189
HP:0002186HP:0007301Oromotor apraxia1ATP1A2 CL E G H477602481Familial hemiplegic migraine type 2602481C1865322OMIM1918800182340
HP:0002186HP:0000657Oculomotor apraxia1ATP1A2 CL E G H477602481Familial hemiplegic migraine type 2602481C1865322OMIM1918800182340
HP:0002186HP:0030217Limb apraxia1ATP1A2 CL E G H477602481Familial hemiplegic migraine type 2602481C1865322OMIM1918800182340
HP:0002186HP:0000658Eyelid apraxia1ATP1A2 CL E G H477602481Familial hemiplegic migraine type 2602481C1865322OMIM1918800182340
HP:0002186HP:0032588Hand apraxia1ATP1A2 CL E G H477602481Familial hemiplegic migraine type 2602481C1865322OMIM1918800182340
HP:0002186HP:0011098Speech apraxia1ATP1A2 CL E G H477602481Familial hemiplegic migraine type 2602481C1865322OMIM1918800182340
HP:0002186HP:0010521Gait apraxia1ATP1A2 CL E G H477602481Familial hemiplegic migraine type 2602481C1865322OMIM1918800182340
HP:0002186HP:0000657Oculomotor apraxia1ATP6AP2 CL E G H10159300423Mental retardation, X-linked, syndromic, Hedera type300423C1845543OMIM130318305300556
HP:0002186HP:0007301Oromotor apraxia1ATP6AP2 CL E G H10159300423Mental retardation, X-linked, syndromic, Hedera type300423C1845543OMIM130318305300556
HP:0002186HP:0000658Eyelid apraxia1ATP6AP2 CL E G H10159300423Mental retardation, X-linked, syndromic, Hedera type300423C1845543OMIM130318305300556
HP:0002186HP:0030217Limb apraxia1ATP6AP2 CL E G H10159300423Mental retardation, X-linked, syndromic, Hedera type300423C1845543OMIM130318305300556
HP:0002186HP:0032588Hand apraxia1ATP6AP2 CL E G H10159300423Mental retardation, X-linked, syndromic, Hedera type300423C1845543OMIM130318305300556
HP:0002186HP:0010521Gait apraxia1ATP6AP2 CL E G H10159300423Mental retardation, X-linked, syndromic, Hedera type300423C1845543OMIM130318305300556
HP:0002186HP:0011098Speech apraxia1ATP6AP2 CL E G H10159300423Mental retardation, X-linked, syndromic, Hedera type300423C1845543OMIM130318305300556
HP:0002186HP:0007301Oromotor apraxia1C9orf72 CL E G H203228275872ORPHA117328337614260
HP:0002186HP:0000657Oculomotor apraxia1C9orf72 CL E G H203228100070ORPHA117328337614260
HP:0002186HP:0007301Oromotor apraxia1C9orf72 CL E G H203228100070ORPHA117328337614260
HP:0002186HP:0000657Oculomotor apraxia1C9orf72 CL E G H203228275872ORPHA117328337614260
HP:0002186HP:0000658Eyelid apraxia1C9orf72 CL E G H203228100070ORPHA117328337614260
HP:0002186HP:0030217Limb apraxia1C9orf72 CL E G H203228100070ORPHA117328337614260
HP:0002186HP:0000658Eyelid apraxia1C9orf72 CL E G H203228275872ORPHA117328337614260
HP:0002186HP:0030217Limb apraxia1C9orf72 CL E G H203228275872ORPHA117328337614260
HP:0002186HP:0032588Hand apraxia1C9orf72 CL E G H203228100070ORPHA117328337614260
HP:0002186HP:0032588Hand apraxia1C9orf72 CL E G H203228275872ORPHA117328337614260
HP:0002186HP:0011098Speech apraxia1C9orf72 CL E G H203228275872ORPHA117328337614260
HP:0002186HP:0010521Gait apraxia1C9orf72 CL E G H203228100070ORPHA117328337614260
HP:0002186HP:0011098Speech apraxia1C9orf72 CL E G H203228100070ORPHA117328337614260
HP:0002186HP:0010521Gait apraxia1C9orf72 CL E G H203228275872ORPHA117328337614260
HP:0002186HP:0000657Oculomotor apraxia1C9orf72 CL E G H203228105550Amyotrophic lateral sclerosis and/or frontotemporal dementia 1105550C1862937OMIM117328337614260
HP:0002186HP:0007301Oromotor apraxia1C9orf72 CL E G H203228105550Amyotrophic lateral sclerosis and/or frontotemporal dementia 1105550C1862937OMIM117328337614260
HP:0002186HP:0000658Eyelid apraxia1C9orf72 CL E G H203228105550Amyotrophic lateral sclerosis and/or frontotemporal dementia 1105550C1862937OMIM117328337614260
HP:0002186HP:0030217Limb apraxia1C9orf72 CL E G H203228105550Amyotrophic lateral sclerosis and/or frontotemporal dementia 1105550C1862937OMIM117328337614260
HP:0002186HP:0032588Hand apraxia1C9orf72 CL E G H203228105550Amyotrophic lateral sclerosis and/or frontotemporal dementia 1105550C1862937OMIM117328337614260
HP:0002186HP:0010521Gait apraxia1C9orf72 CL E G H203228105550Amyotrophic lateral sclerosis and/or frontotemporal dementia 1105550C1862937OMIM117328337614260
HP:0002186HP:0011098Speech apraxia1C9orf72 CL E G H203228105550Amyotrophic lateral sclerosis and/or frontotemporal dementia 1105550C1862937OMIM117328337614260
HP:0002186HP:0007301Oromotor apraxia1CD247 CL E G H91985408ORPHA11451677186780
HP:0002186HP:0000657Oculomotor apraxia1CD247 CL E G H91985408ORPHA11451677186780
HP:0002186HP:0000658Eyelid apraxia1CD247 CL E G H91985408ORPHA11451677186780
HP:0002186HP:0030217Limb apraxia1CD247 CL E G H91985408ORPHA11451677186780
HP:0002186HP:0032588Hand apraxia1CD247 CL E G H91985408ORPHA11451677186780
HP:0002186HP:0011098Speech apraxia1CD247 CL E G H91985408ORPHA11451677186780
HP:0002186HP:0010521Gait apraxia1CD247 CL E G H91985408ORPHA11451677186780
HP:0002186HP:0000657Oculomotor apraxia1CHCHD10 CL E G H400916275872ORPHA124815559615903
HP:0002186HP:0007301Oromotor apraxia1CHCHD10 CL E G H400916275872ORPHA124815559615903
HP:0002186HP:0000658Eyelid apraxia1CHCHD10 CL E G H400916275872ORPHA124815559615903
HP:0002186HP:0030217Limb apraxia1CHCHD10 CL E G H400916275872ORPHA124815559615903
HP:0002186HP:0032588Hand apraxia1CHCHD10 CL E G H400916275872ORPHA124815559615903
HP:0002186HP:0010521Gait apraxia1CHCHD10 CL E G H400916275872ORPHA124815559615903
HP:0002186HP:0011098Speech apraxia1CHCHD10 CL E G H400916275872ORPHA124815559615903
HP:0002186HP:0000657Oculomotor apraxia1CHMP2B CL E G H25978100070ORPHA114124537609512
HP:0002186HP:0007301Oromotor apraxia1CHMP2B CL E G H25978100070ORPHA114124537609512
HP:0002186HP:0000658Eyelid apraxia1CHMP2B CL E G H25978100070ORPHA114124537609512
HP:0002186HP:0030217Limb apraxia1CHMP2B CL E G H25978100070ORPHA114124537609512
HP:0002186HP:0032588Hand apraxia1CHMP2B CL E G H25978100070ORPHA114124537609512
HP:0002186HP:0010521Gait apraxia1CHMP2B CL E G H25978100070ORPHA114124537609512
HP:0002186HP:0011098Speech apraxia1CHMP2B CL E G H25978100070ORPHA114124537609512
HP:0002186HP:0000657Oculomotor apraxia1CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM15182433164770
HP:0002186HP:0007301Oromotor apraxia1CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM15182433164770
HP:0002186HP:0000658Eyelid apraxia1CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM15182433164770
HP:0002186HP:0030217Limb apraxia1CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM15182433164770
HP:0002186HP:0032588Hand apraxia1CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM15182433164770
HP:0002186HP:0011098Speech apraxia1CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM15182433164770
HP:0002186HP:0010521Gait apraxia1CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM15182433164770
HP:0002186HP:0000657Oculomotor apraxia1EBF3 CL E G H253738617330Hypotonia, ataxia, and delayed development syndrome617330C4310618OMIM122919087607407
HP:0002186HP:0007301Oromotor apraxia1EBF3 CL E G H253738617330Hypotonia, ataxia, and delayed development syndrome617330C4310618OMIM122919087607407
HP:0002186HP:0000658Eyelid apraxia1EBF3 CL E G H253738617330Hypotonia, ataxia, and delayed development syndrome617330C4310618OMIM122919087607407
HP:0002186HP:0030217Limb apraxia1EBF3 CL E G H253738617330Hypotonia, ataxia, and delayed development syndrome617330C4310618OMIM122919087607407
HP:0002186HP:0032588Hand apraxia1EBF3 CL E G H253738617330Hypotonia, ataxia, and delayed development syndrome617330C4310618OMIM122919087607407
HP:0002186HP:0010521Gait apraxia1EBF3 CL E G H253738617330Hypotonia, ataxia, and delayed development syndrome617330C4310618OMIM122919087607407
HP:0002186HP:0011098Speech apraxia1EBF3 CL E G H253738617330Hypotonia, ataxia, and delayed development syndrome617330C4310618OMIM122919087607407
HP:0002186HP:0000657Oculomotor apraxia1EPM2A CL E G H7957254780Lafora disease254780C0751783OMIM13753413607566
HP:0002186HP:0007301Oromotor apraxia1EPM2A CL E G H7957254780Lafora disease254780C0751783OMIM13753413607566
HP:0002186HP:0000658Eyelid apraxia1EPM2A CL E G H7957254780Lafora disease254780C0751783OMIM13753413607566
HP:0002186HP:0030217Limb apraxia1EPM2A CL E G H7957254780Lafora disease254780C0751783OMIM13753413607566
HP:0002186HP:0032588Hand apraxia1EPM2A CL E G H7957254780Lafora disease254780C0751783OMIM13753413607566
HP:0002186HP:0010521Gait apraxia1EPM2A CL E G H7957254780Lafora disease254780C0751783OMIM13753413607566
HP:0002186HP:0011098Speech apraxia1EPM2A CL E G H7957254780Lafora disease254780C0751783OMIM13753413607566
HP:0002186HP:0000657Oculomotor apraxia1FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM16143811164874
HP:0002186HP:0007301Oromotor apraxia1FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM16143811164874
HP:0002186HP:0000658Eyelid apraxia1FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM16143811164874
HP:0002186HP:0030217Limb apraxia1FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM16143811164874
HP:0002186HP:0032588Hand apraxia1FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM16143811164874
HP:0002186HP:0010521Gait apraxia1FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM16143811164874
HP:0002186HP:0011098Speech apraxia1FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM16143811164874
HP:0002186HP:0000657Oculomotor apraxia1FOXP1 CL E G H27086613670Mental retardation with language impairment and with or without autistic features613670C3150923OMIM14493823605515
HP:0002186HP:0007301Oromotor apraxia1FOXP1 CL E G H27086613670Mental retardation with language impairment and with or without autistic features613670C3150923OMIM14493823605515
HP:0002186HP:0000658Eyelid apraxia1FOXP1 CL E G H27086613670Mental retardation with language impairment and with or without autistic features613670C3150923OMIM14493823605515
HP:0002186HP:0030217Limb apraxia1FOXP1 CL E G H27086613670Mental retardation with language impairment and with or without autistic features613670C3150923OMIM14493823605515
HP:0002186HP:0032588Hand apraxia1FOXP1 CL E G H27086613670Mental retardation with language impairment and with or without autistic features613670C3150923OMIM14493823605515
HP:0002186HP:0010521Gait apraxia1FOXP1 CL E G H27086613670Mental retardation with language impairment and with or without autistic features613670C3150923OMIM14493823605515
HP:0002186HP:0011098Speech apraxia1FOXP1 CL E G H27086613670Mental retardation with language impairment and with or without autistic features613670C3150923OMIM14493823605515
HP:0002186HP:0000657Oculomotor apraxia1FUS CL E G H2521275872ORPHA14094010137070
HP:0002186HP:0007301Oromotor apraxia1FUS CL E G H2521275872ORPHA14094010137070
HP:0002186HP:0000658Eyelid apraxia1FUS CL E G H2521275872ORPHA14094010137070
HP:0002186HP:0030217Limb apraxia1FUS CL E G H2521275872ORPHA14094010137070
HP:0002186HP:0032588Hand apraxia1FUS CL E G H2521275872ORPHA14094010137070
HP:0002186HP:0010521Gait apraxia1FUS CL E G H2521275872ORPHA14094010137070
HP:0002186HP:0011098Speech apraxia1FUS CL E G H2521275872ORPHA14094010137070
HP:0002186HP:0000657Oculomotor apraxia1GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM13534446603048
HP:0002186HP:0007301Oromotor apraxia1GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM13534446603048
HP:0002186HP:0000658Eyelid apraxia1GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM13534446603048
HP:0002186HP:0030217Limb apraxia1GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM13534446603048
HP:0002186HP:0032588Hand apraxia1GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM13534446603048
HP:0002186HP:0010521Gait apraxia1GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM13534446603048
HP:0002186HP:0011098Speech apraxia1GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM13534446603048
HP:0002186HP:0007301Oromotor apraxia1GRN CL E G H2896100070ORPHA14174601138945
HP:0002186HP:0000657Oculomotor apraxia1GRN CL E G H2896100070ORPHA14174601138945
HP:0002186HP:0030217Limb apraxia1GRN CL E G H2896100070ORPHA14174601138945
HP:0002186HP:0000658Eyelid apraxia1GRN CL E G H2896100070ORPHA14174601138945
HP:0002186HP:0032588Hand apraxia1GRN CL E G H2896100070ORPHA14174601138945
HP:0002186HP:0010521Gait apraxia1GRN CL E G H2896100070ORPHA14174601138945
HP:0002186HP:0011098Speech apraxia1GRN CL E G H2896100070ORPHA14174601138945
HP:0002186HP:0007301Oromotor apraxia1GRN CL E G H2896607485Frontotemporal dementia, ubiquitin-positive607485C1843792OMIM14174601138945
HP:0002186HP:0000657Oculomotor apraxia1GRN CL E G H2896607485Frontotemporal dementia, ubiquitin-positive607485C1843792OMIM14174601138945
HP:0002186HP:0000658Eyelid apraxia1GRN CL E G H2896607485Frontotemporal dementia, ubiquitin-positive607485C1843792OMIM14174601138945
HP:0002186HP:0030217Limb apraxia1GRN CL E G H2896607485Frontotemporal dementia, ubiquitin-positive607485C1843792OMIM14174601138945
HP:0002186HP:0032588Hand apraxia1GRN CL E G H2896607485Frontotemporal dementia, ubiquitin-positive607485C1843792OMIM14174601138945
HP:0002186HP:0011098Speech apraxia1GRN CL E G H2896607485Frontotemporal dementia, ubiquitin-positive607485C1843792OMIM14174601138945
HP:0002186HP:0010521Gait apraxia1GRN CL E G H2896607485Frontotemporal dementia, ubiquitin-positive607485C1843792OMIM14174601138945
HP:0002186HP:0000657Oculomotor apraxia1IL2RA CL E G H355985408ORPHA12656008147730
HP:0002186HP:0007301Oromotor apraxia1IL2RA CL E G H355985408ORPHA12656008147730
HP:0002186HP:0000658Eyelid apraxia1IL2RA CL E G H355985408ORPHA12656008147730
HP:0002186HP:0030217Limb apraxia1IL2RA CL E G H355985408ORPHA12656008147730
HP:0002186HP:0032588Hand apraxia1IL2RA CL E G H355985408ORPHA12656008147730
HP:0002186HP:0010521Gait apraxia1IL2RA CL E G H355985408ORPHA12656008147730
HP:0002186HP:0011098Speech apraxia1IL2RA CL E G H355985408ORPHA12656008147730
HP:0002186HP:0000657Oculomotor apraxia1IL2RB CL E G H356085408ORPHA12046009146710
HP:0002186HP:0007301Oromotor apraxia1IL2RB CL E G H356085408ORPHA12046009146710
HP:0002186HP:0000658Eyelid apraxia1IL2RB CL E G H356085408ORPHA12046009146710
HP:0002186HP:0030217Limb apraxia1IL2RB CL E G H356085408ORPHA12046009146710
HP:0002186HP:0032588Hand apraxia1IL2RB CL E G H356085408ORPHA12046009146710
HP:0002186HP:0010521Gait apraxia1IL2RB CL E G H356085408ORPHA12046009146710
HP:0002186HP:0011098Speech apraxia1IL2RB CL E G H356085408ORPHA12046009146710
HP:0002186HP:0000657Oculomotor apraxia1MAPT CL E G H4137100070ORPHA15146893157140
HP:0002186HP:0007301Oromotor apraxia1MAPT CL E G H4137100070ORPHA15146893157140
HP:0002186HP:0000658Eyelid apraxia1MAPT CL E G H4137100070ORPHA15146893157140
HP:0002186HP:0030217Limb apraxia1MAPT CL E G H4137100070ORPHA15146893157140
HP:0002186HP:0032588Hand apraxia1MAPT CL E G H4137100070ORPHA15146893157140
HP:0002186HP:0010521Gait apraxia1MAPT CL E G H4137100070ORPHA15146893157140
HP:0002186HP:0011098Speech apraxia1MAPT CL E G H4137100070ORPHA15146893157140
HP:0002186HP:0000657Oculomotor apraxia1MECP2 CL E G H4204778ORPHA117786990300005
HP:0002186HP:0007301Oromotor apraxia1MECP2 CL E G H4204778ORPHA117786990300005
HP:0002186HP:0000658Eyelid apraxia1MECP2 CL E G H4204778ORPHA117786990300005
HP:0002186HP:0030217Limb apraxia1MECP2 CL E G H4204778ORPHA117786990300005
HP:0002186HP:0032588Hand apraxia1MECP2 CL E G H4204778ORPHA117786990300005
HP:0002186HP:0010521Gait apraxia1MECP2 CL E G H4204778ORPHA117786990300005
HP:0002186HP:0011098Speech apraxia1MECP2 CL E G H4204778ORPHA117786990300005
HP:0002186HP:0000657Oculomotor apraxia1NHLRC1 CL E G H378884254780Lafora disease254780C0751783OMIM130721576608072
HP:0002186HP:0007301Oromotor apraxia1NHLRC1 CL E G H378884254780Lafora disease254780C0751783OMIM130721576608072
HP:0002186HP:0000658Eyelid apraxia1NHLRC1 CL E G H378884254780Lafora disease254780C0751783OMIM130721576608072
HP:0002186HP:0030217Limb apraxia1NHLRC1 CL E G H378884254780Lafora disease254780C0751783OMIM130721576608072
HP:0002186HP:0032588Hand apraxia1NHLRC1 CL E G H378884254780Lafora disease254780C0751783OMIM130721576608072
HP:0002186HP:0010521Gait apraxia1NHLRC1 CL E G H378884254780Lafora disease254780C0751783OMIM130721576608072
HP:0002186HP:0011098Speech apraxia1NHLRC1 CL E G H378884254780Lafora disease254780C0751783OMIM130721576608072
HP:0002186HP:0000657Oculomotor apraxia1PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM15989039603604
HP:0002186HP:0007301Oromotor apraxia1PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM15989039603604
HP:0002186HP:0000658Eyelid apraxia1PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM15989039603604
HP:0002186HP:0030217Limb apraxia1PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM15989039603604
HP:0002186HP:0032588Hand apraxia1PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM15989039603604
HP:0002186HP:0010521Gait apraxia1PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM15989039603604
HP:0002186HP:0011098Speech apraxia1PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM15989039603604
HP:0002186HP:0000657Oculomotor apraxia1PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11649449176640
HP:0002186HP:0007301Oromotor apraxia1PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11649449176640
HP:0002186HP:0000658Eyelid apraxia1PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11649449176640
HP:0002186HP:0030217Limb apraxia1PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11649449176640
HP:0002186HP:0032588Hand apraxia1PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11649449176640
HP:0002186HP:0010521Gait apraxia1PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11649449176640
HP:0002186HP:0011098Speech apraxia1PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11649449176640
HP:0002186HP:0007301Oromotor apraxia1PSEN1 CL E G H5663100070ORPHA14529508104311
HP:0002186HP:0000657Oculomotor apraxia1PSEN1 CL E G H5663100070ORPHA14529508104311
HP:0002186HP:0000658Eyelid apraxia1PSEN1 CL E G H5663100070ORPHA14529508104311
HP:0002186HP:0030217Limb apraxia1PSEN1 CL E G H5663100070ORPHA14529508104311
HP:0002186HP:0032588Hand apraxia1PSEN1 CL E G H5663100070ORPHA14529508104311
HP:0002186HP:0011098Speech apraxia1PSEN1 CL E G H5663100070ORPHA14529508104311
HP:0002186HP:0010521Gait apraxia1PSEN1 CL E G H5663100070ORPHA14529508104311
HP:0002186HP:0000657Oculomotor apraxia1PSEN1 CL E G H5663607822Alzheimer disease, type 3607822C1843013OMIM14529508104311
HP:0002186HP:0007301Oromotor apraxia1PSEN1 CL E G H5663607822Alzheimer disease, type 3607822C1843013OMIM14529508104311
HP:0002186HP:0000658Eyelid apraxia1PSEN1 CL E G H5663607822Alzheimer disease, type 3607822C1843013OMIM14529508104311
HP:0002186HP:0030217Limb apraxia1PSEN1 CL E G H5663607822Alzheimer disease, type 3607822C1843013OMIM14529508104311
HP:0002186HP:0032588Hand apraxia1PSEN1 CL E G H5663607822Alzheimer disease, type 3607822C1843013OMIM14529508104311
HP:0002186HP:0010521Gait apraxia1PSEN1 CL E G H5663607822Alzheimer disease, type 3607822C1843013OMIM14529508104311
HP:0002186HP:0011098Speech apraxia1PSEN1 CL E G H5663607822Alzheimer disease, type 3607822C1843013OMIM14529508104311
HP:0002186HP:0000657Oculomotor apraxia1PTPN2 CL E G H577185408ORPHA1849650176887
HP:0002186HP:0007301Oromotor apraxia1PTPN2 CL E G H577185408ORPHA1849650176887
HP:0002186HP:0000658Eyelid apraxia1PTPN2 CL E G H577185408ORPHA1849650176887
HP:0002186HP:0030217Limb apraxia1PTPN2 CL E G H577185408ORPHA1849650176887
HP:0002186HP:0032588Hand apraxia1PTPN2 CL E G H577185408ORPHA1849650176887
HP:0002186HP:0010521Gait apraxia1PTPN2 CL E G H577185408ORPHA1849650176887
HP:0002186HP:0011098Speech apraxia1PTPN2 CL E G H577185408ORPHA1849650176887
HP:0002186HP:0000657Oculomotor apraxia1PTPN22 CL E G H2619185408ORPHA1349652600716
HP:0002186HP:0007301Oromotor apraxia1PTPN22 CL E G H2619185408ORPHA1349652600716
HP:0002186HP:0000658Eyelid apraxia1PTPN22 CL E G H2619185408ORPHA1349652600716
HP:0002186HP:0030217Limb apraxia1PTPN22 CL E G H2619185408ORPHA1349652600716
HP:0002186HP:0032588Hand apraxia1PTPN22 CL E G H2619185408ORPHA1349652600716
HP:0002186HP:0010521Gait apraxia1PTPN22 CL E G H2619185408ORPHA1349652600716
HP:0002186HP:0011098Speech apraxia1PTPN22 CL E G H2619185408ORPHA1349652600716
HP:0002186HP:0007301Oromotor apraxia1SNX14 CL E G H57231616354Spinocerebellar ataxia, autosomal recessive 20616354C4225355OMIM116214977616105
HP:0002186HP:0000657Oculomotor apraxia1SNX14 CL E G H57231616354Spinocerebellar ataxia, autosomal recessive 20616354C4225355OMIM116214977616105
HP:0002186HP:0000658Eyelid apraxia1SNX14 CL E G H57231616354Spinocerebellar ataxia, autosomal recessive 20616354C4225355OMIM116214977616105
HP:0002186HP:0030217Limb apraxia1SNX14 CL E G H57231616354Spinocerebellar ataxia, autosomal recessive 20616354C4225355OMIM116214977616105
HP:0002186HP:0032588Hand apraxia1SNX14 CL E G H57231616354Spinocerebellar ataxia, autosomal recessive 20616354C4225355OMIM116214977616105
HP:0002186HP:0011098Speech apraxia1SNX14 CL E G H57231616354Spinocerebellar ataxia, autosomal recessive 20616354C4225355OMIM116214977616105
HP:0002186HP:0010521Gait apraxia1SNX14 CL E G H57231616354Spinocerebellar ataxia, autosomal recessive 20616354C4225355OMIM116214977616105
HP:0002186HP:0000657Oculomotor apraxia1SPG21 CL E G H51324101001ORPHA114520373608181
HP:0002186HP:0007301Oromotor apraxia1SPG21 CL E G H51324101001ORPHA114520373608181
HP:0002186HP:0000658Eyelid apraxia1SPG21 CL E G H51324101001ORPHA114520373608181
HP:0002186HP:0030217Limb apraxia1SPG21 CL E G H51324101001ORPHA114520373608181
HP:0002186HP:0032588Hand apraxia1SPG21 CL E G H51324101001ORPHA114520373608181
HP:0002186HP:0010521Gait apraxia1SPG21 CL E G H51324101001ORPHA114520373608181
HP:0002186HP:0011098Speech apraxia1SPG21 CL E G H51324101001ORPHA114520373608181
HP:0002186HP:0000657Oculomotor apraxia1SQSTM1 CL E G H8878275872ORPHA154211280601530
HP:0002186HP:0007301Oromotor apraxia1SQSTM1 CL E G H8878275872ORPHA154211280601530
HP:0002186HP:0000658Eyelid apraxia1SQSTM1 CL E G H8878275872ORPHA154211280601530
HP:0002186HP:0030217Limb apraxia1SQSTM1 CL E G H8878275872ORPHA154211280601530
HP:0002186HP:0032588Hand apraxia1SQSTM1 CL E G H8878275872ORPHA154211280601530
HP:0002186HP:0010521Gait apraxia1SQSTM1 CL E G H8878275872ORPHA154211280601530
HP:0002186HP:0011098Speech apraxia1SQSTM1 CL E G H8878275872ORPHA154211280601530
HP:0002186HP:0007301Oromotor apraxia1STAT4 CL E G H677585408ORPHA119411365600558
HP:0002186HP:0000657Oculomotor apraxia1STAT4 CL E G H677585408ORPHA119411365600558
HP:0002186HP:0030217Limb apraxia1STAT4 CL E G H677585408ORPHA119411365600558
HP:0002186HP:0000658Eyelid apraxia1STAT4 CL E G H677585408ORPHA119411365600558
HP:0002186HP:0032588Hand apraxia1STAT4 CL E G H677585408ORPHA119411365600558
HP:0002186HP:0010521Gait apraxia1STAT4 CL E G H677585408ORPHA119411365600558
HP:0002186HP:0011098Speech apraxia1STAT4 CL E G H677585408ORPHA119411365600558
HP:0002186HP:0000657Oculomotor apraxia1TARDBP CL E G H23435275872ORPHA125911571605078
HP:0002186HP:0007301Oromotor apraxia1TARDBP CL E G H23435275872ORPHA125911571605078
HP:0002186HP:0000658Eyelid apraxia1TARDBP CL E G H23435275872ORPHA125911571605078
HP:0002186HP:0030217Limb apraxia1TARDBP CL E G H23435275872ORPHA125911571605078
HP:0002186HP:0032588Hand apraxia1TARDBP CL E G H23435275872ORPHA125911571605078
HP:0002186HP:0010521Gait apraxia1TARDBP CL E G H23435275872ORPHA125911571605078
HP:0002186HP:0011098Speech apraxia1TARDBP CL E G H23435275872ORPHA125911571605078
HP:0002186HP:0007301Oromotor apraxia1TBK1 CL E G H29110275872ORPHA129411584604834
HP:0002186HP:0000657Oculomotor apraxia1TBK1 CL E G H29110275872ORPHA129411584604834
HP:0002186HP:0030217Limb apraxia1TBK1 CL E G H29110275872ORPHA129411584604834
HP:0002186HP:0000658Eyelid apraxia1TBK1 CL E G H29110275872ORPHA129411584604834
HP:0002186HP:0032588Hand apraxia1TBK1 CL E G H29110275872ORPHA129411584604834
HP:0002186HP:0010521Gait apraxia1TBK1 CL E G H29110275872ORPHA129411584604834
HP:0002186HP:0011098Speech apraxia1TBK1 CL E G H29110275872ORPHA129411584604834
HP:0002186HP:0000657Oculomotor apraxia1TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM111611588600075
HP:0002186HP:0007301Oromotor apraxia1TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM111611588600075
HP:0002186HP:0000658Eyelid apraxia1TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM111611588600075
HP:0002186HP:0030217Limb apraxia1TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM111611588600075
HP:0002186HP:0032588Hand apraxia1TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM111611588600075
HP:0002186HP:0010521Gait apraxia1TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM111611588600075
HP:0002186HP:0011098Speech apraxia1TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM111611588600075
HP:0002186HP:0000657Oculomotor apraxia1TMEM106B CL E G H54664100070ORPHA18722407613413
HP:0002186HP:0007301Oromotor apraxia1TMEM106B CL E G H54664100070ORPHA18722407613413
HP:0002186HP:0000658Eyelid apraxia1TMEM106B CL E G H54664100070ORPHA18722407613413
HP:0002186HP:0030217Limb apraxia1TMEM106B CL E G H54664100070ORPHA18722407613413
HP:0002186HP:0032588Hand apraxia1TMEM106B CL E G H54664100070ORPHA18722407613413
HP:0002186HP:0010521Gait apraxia1TMEM106B CL E G H54664100070ORPHA18722407613413
HP:0002186HP:0011098Speech apraxia1TMEM106B CL E G H54664100070ORPHA18722407613413
HP:0002186HP:0000657Oculomotor apraxia1TREM2 CL E G H54209100070ORPHA111017761605086
HP:0002186HP:0007301Oromotor apraxia1TREM2 CL E G H54209100070ORPHA111017761605086
HP:0002186HP:0000658Eyelid apraxia1TREM2 CL E G H54209100070ORPHA111017761605086
HP:0002186HP:0030217Limb apraxia1TREM2 CL E G H54209100070ORPHA111017761605086
HP:0002186HP:0032588Hand apraxia1TREM2 CL E G H54209100070ORPHA111017761605086
HP:0002186HP:0010521Gait apraxia1TREM2 CL E G H54209100070ORPHA111017761605086
HP:0002186HP:0011098Speech apraxia1TREM2 CL E G H54209100070ORPHA111017761605086
HP:0002186HP:0000657Oculomotor apraxia1TREX1 CL E G H11277247691ORPHA132712269606609
HP:0002186HP:0007301Oromotor apraxia1TREX1 CL E G H11277247691ORPHA132712269606609
HP:0002186HP:0000658Eyelid apraxia1TREX1 CL E G H11277247691ORPHA132712269606609
HP:0002186HP:0030217Limb apraxia1TREX1 CL E G H11277247691ORPHA132712269606609
HP:0002186HP:0032588Hand apraxia1TREX1 CL E G H11277247691ORPHA132712269606609
HP:0002186HP:0010521Gait apraxia1TREX1 CL E G H11277247691ORPHA132712269606609
HP:0002186HP:0011098Speech apraxia1TREX1 CL E G H11277247691ORPHA132712269606609
HP:0002186HP:0007301Oromotor apraxia1TREX1 CL E G H11277192315Vasculopathy, retinal, with cerebral leukodystrophy192315C1860518OMIM132712269606609
HP:0002186HP:0000657Oculomotor apraxia1TREX1 CL E G H11277192315Vasculopathy, retinal, with cerebral leukodystrophy192315C1860518OMIM132712269606609
HP:0002186HP:0030217Limb apraxia1TREX1 CL E G H11277192315Vasculopathy, retinal, with cerebral leukodystrophy192315C1860518OMIM132712269606609
HP:0002186HP:0000658Eyelid apraxia1TREX1 CL E G H11277192315Vasculopathy, retinal, with cerebral leukodystrophy192315C1860518OMIM132712269606609
HP:0002186HP:0032588Hand apraxia1TREX1 CL E G H11277192315Vasculopathy, retinal, with cerebral leukodystrophy192315C1860518OMIM132712269606609
HP:0002186HP:0011098Speech apraxia1TREX1 CL E G H11277192315Vasculopathy, retinal, with cerebral leukodystrophy192315C1860518OMIM132712269606609
HP:0002186HP:0010521Gait apraxia1TREX1 CL E G H11277192315Vasculopathy, retinal, with cerebral leukodystrophy192315C1860518OMIM132712269606609
HP:0002186HP:0007301Oromotor apraxia1TTC19 CL E G H54902615157Mitochondrial complex III deficiency, nuclear type 2615157C3554605OMIM126326006613814
HP:0002186HP:0000657Oculomotor apraxia1TTC19 CL E G H54902615157Mitochondrial complex III deficiency, nuclear type 2615157C3554605OMIM126326006613814
HP:0002186HP:0030217Limb apraxia1TTC19 CL E G H54902615157Mitochondrial complex III deficiency, nuclear type 2615157C3554605OMIM126326006613814
HP:0002186HP:0000658Eyelid apraxia1TTC19 CL E G H54902615157Mitochondrial complex III deficiency, nuclear type 2615157C3554605OMIM126326006613814
HP:0002186HP:0032588Hand apraxia1TTC19 CL E G H54902615157Mitochondrial complex III deficiency, nuclear type 2615157C3554605OMIM126326006613814
HP:0002186HP:0011098Speech apraxia1TTC19 CL E G H54902615157Mitochondrial complex III deficiency, nuclear type 2615157C3554605OMIM126326006613814
HP:0002186HP:0010521Gait apraxia1TTC19 CL E G H54902615157Mitochondrial complex III deficiency, nuclear type 2615157C3554605OMIM126326006613814
HP:0002186HP:0000657Oculomotor apraxia1TYROBP CL E G H7305221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy221770C1857316OMIM18512449604142
HP:0002186HP:0007301Oromotor apraxia1TYROBP CL E G H7305221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy221770C1857316OMIM18512449604142
HP:0002186HP:0000658Eyelid apraxia1TYROBP CL E G H7305221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy221770C1857316OMIM18512449604142
HP:0002186HP:0030217Limb apraxia1TYROBP CL E G H7305221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy221770C1857316OMIM18512449604142
HP:0002186HP:0032588Hand apraxia1TYROBP CL E G H7305221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy221770C1857316OMIM18512449604142
HP:0002186HP:0010521Gait apraxia1TYROBP CL E G H7305221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy221770C1857316OMIM18512449604142
HP:0002186HP:0011098Speech apraxia1TYROBP CL E G H7305221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy221770C1857316OMIM18512449604142
HP:0002186HP:0007301Oromotor apraxia1UBE3A CL E G H7337238446ORPHA199312496601623
HP:0002186HP:0000657Oculomotor apraxia1UBE3A CL E G H7337238446ORPHA199312496601623
HP:0002186HP:0030217Limb apraxia1UBE3A CL E G H7337238446ORPHA199312496601623
HP:0002186HP:0000658Eyelid apraxia1UBE3A CL E G H7337238446ORPHA199312496601623
HP:0002186HP:0032588Hand apraxia1UBE3A CL E G H7337238446ORPHA199312496601623
HP:0002186HP:0010521Gait apraxia1UBE3A CL E G H7337238446ORPHA199312496601623
HP:0002186HP:0011098Speech apraxia1UBE3A CL E G H7337238446ORPHA199312496601623
HP:0002186HP:0010521Gait apraxia1VCP CL E G H7415275872ORPHA147312666601023
HP:0002186HP:0011098Speech apraxia1VCP CL E G H7415275872ORPHA147312666601023
HP:0002186HP:0000657Oculomotor apraxia1VCP CL E G H7415100070ORPHA147312666601023
HP:0002186HP:0007301Oromotor apraxia1VCP CL E G H7415100070ORPHA147312666601023
HP:0002186HP:0000657Oculomotor apraxia1VCP CL E G H7415275872ORPHA147312666601023
HP:0002186HP:0007301Oromotor apraxia1VCP CL E G H7415275872ORPHA147312666601023
HP:0002186HP:0000658Eyelid apraxia1VCP CL E G H7415100070ORPHA147312666601023
HP:0002186HP:0030217Limb apraxia1VCP CL E G H7415100070ORPHA147312666601023
HP:0002186HP:0000658Eyelid apraxia1VCP CL E G H7415275872ORPHA147312666601023
HP:0002186HP:0030217Limb apraxia1VCP CL E G H7415275872ORPHA147312666601023
HP:0002186HP:0032588Hand apraxia1VCP CL E G H7415100070ORPHA147312666601023
HP:0002186HP:0032588Hand apraxia1VCP CL E G H7415275872ORPHA147312666601023
HP:0002186HP:0010521Gait apraxia1VCP CL E G H7415100070ORPHA147312666601023
HP:0002186HP:0011098Speech apraxia1VCP CL E G H7415100070ORPHA147312666601023
HP:0002186HP:0000657Oculomotor apraxia1XRCC4 CL E G H7518616541Short stature, microcephaly, and endocrine dysfunction616541C4225288OMIM18612831194363
HP:0002186HP:0007301Oromotor apraxia1XRCC4 CL E G H7518616541Short stature, microcephaly, and endocrine dysfunction616541C4225288OMIM18612831194363
HP:0002186HP:0000658Eyelid apraxia1XRCC4 CL E G H7518616541Short stature, microcephaly, and endocrine dysfunction616541C4225288OMIM18612831194363
HP:0002186HP:0030217Limb apraxia1XRCC4 CL E G H7518616541Short stature, microcephaly, and endocrine dysfunction616541C4225288OMIM18612831194363
HP:0002186HP:0032588Hand apraxia1XRCC4 CL E G H7518616541Short stature, microcephaly, and endocrine dysfunction616541C4225288OMIM18612831194363
HP:0002186HP:0010521Gait apraxia1XRCC4 CL E G H7518616541Short stature, microcephaly, and endocrine dysfunction616541C4225288OMIM18612831194363
HP:0002186HP:0011098Speech apraxia1XRCC4 CL E G H7518616541Short stature, microcephaly, and endocrine dysfunction616541C4225288OMIM18612831194363
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002186HP:0002186Apraxia0ABCC8 CL E G H683399886ORPHA0156959600509
HP:0002186HP:0002186Apraxia0ABCC8 CL E G H683399885ORPHA0156959600509
HP:0002186HP:0002186Apraxia0GCK CL E G H264599885ORPHA07624195138079
HP:0002186HP:0002186Apraxia0HYMAI CL E G H5706199886ORPHA0175326606546
HP:0002186HP:0002186Apraxia0INS CL E G H363099885ORPHA01686081176730
HP:0002186HP:0002186Apraxia0KCNJ11 CL E G H376799886ORPHA03806257600937
HP:0002186HP:0002186Apraxia0KCNJ11 CL E G H376799885ORPHA03806257600937
HP:0002186HP:0002186Apraxia0PDX1 CL E G H365199885ORPHA01456107600733
HP:0002186HP:0002186Apraxia0PLAGL1 CL E G H532599886ORPHA0329046603044
HP:0002186HP:0002186Apraxia0SLC2A1 CL E G H651371277ORPHA082711005138140
HP:0002186HP:0002186Apraxia0SPG21 CL E G H51324248900Mast syndrome248900C1855346OMIM014520373608181
HP:0002186HP:0002186Apraxia0STAT3 CL E G H677499885ORPHA050511364102582
HP:0002186HP:0002186Apraxia0ZFP57 CL E G H34617199886ORPHA08718791612192
HP:0002186HP:0007301Oromotor apraxia1ABCC8 CL E G H683399886ORPHA0156959600509
HP:0002186HP:0000657Oculomotor apraxia1ABCC8 CL E G H683399885ORPHA0156959600509
HP:0002186HP:0007301Oromotor apraxia1ABCC8 CL E G H683399885ORPHA0156959600509
HP:0002186HP:0000657Oculomotor apraxia1ABCC8 CL E G H683399886ORPHA0156959600509
HP:0002186HP:0030217Limb apraxia1ABCC8 CL E G H683399886ORPHA0156959600509
HP:0002186HP:0000658Eyelid apraxia1ABCC8 CL E G H683399885ORPHA0156959600509
HP:0002186HP:0030217Limb apraxia1ABCC8 CL E G H683399885ORPHA0156959600509
HP:0002186HP:0000658Eyelid apraxia1ABCC8 CL E G H683399886ORPHA0156959600509
HP:0002186HP:0032588Hand apraxia1ABCC8 CL E G H683399886ORPHA0156959600509
HP:0002186HP:0032588Hand apraxia1ABCC8 CL E G H683399885ORPHA0156959600509
HP:0002186HP:0010521Gait apraxia1ABCC8 CL E G H683399886ORPHA0156959600509
HP:0002186HP:0011098Speech apraxia1ABCC8 CL E G H683399886ORPHA0156959600509
HP:0002186HP:0010521Gait apraxia1ABCC8 CL E G H683399885ORPHA0156959600509
HP:0002186HP:0011098Speech apraxia1ABCC8 CL E G H683399885ORPHA0156959600509
HP:0002186HP:0007301Oromotor apraxia1GCK CL E G H264599885ORPHA07624195138079
HP:0002186HP:0000657Oculomotor apraxia1GCK CL E G H264599885ORPHA07624195138079
HP:0002186HP:0000658Eyelid apraxia1GCK CL E G H264599885ORPHA07624195138079
HP:0002186HP:0030217Limb apraxia1GCK CL E G H264599885ORPHA07624195138079
HP:0002186HP:0032588Hand apraxia1GCK CL E G H264599885ORPHA07624195138079
HP:0002186HP:0011098Speech apraxia1GCK CL E G H264599885ORPHA07624195138079
HP:0002186HP:0010521Gait apraxia1GCK CL E G H264599885ORPHA07624195138079
HP:0002186HP:0000657Oculomotor apraxia1HYMAI CL E G H5706199886ORPHA0175326606546
HP:0002186HP:0007301Oromotor apraxia1HYMAI CL E G H5706199886ORPHA0175326606546
HP:0002186HP:0000658Eyelid apraxia1HYMAI CL E G H5706199886ORPHA0175326606546
HP:0002186HP:0030217Limb apraxia1HYMAI CL E G H5706199886ORPHA0175326606546
HP:0002186HP:0032588Hand apraxia1HYMAI CL E G H5706199886ORPHA0175326606546
HP:0002186HP:0010521Gait apraxia1HYMAI CL E G H5706199886ORPHA0175326606546
HP:0002186HP:0011098Speech apraxia1HYMAI CL E G H5706199886ORPHA0175326606546
HP:0002186HP:0000657Oculomotor apraxia1INS CL E G H363099885ORPHA01686081176730
HP:0002186HP:0007301Oromotor apraxia1INS CL E G H363099885ORPHA01686081176730
HP:0002186HP:0000658Eyelid apraxia1INS CL E G H363099885ORPHA01686081176730
HP:0002186HP:0030217Limb apraxia1INS CL E G H363099885ORPHA01686081176730
HP:0002186HP:0032588Hand apraxia1INS CL E G H363099885ORPHA01686081176730
HP:0002186HP:0010521Gait apraxia1INS CL E G H363099885ORPHA01686081176730
HP:0002186HP:0011098Speech apraxia1INS CL E G H363099885ORPHA01686081176730
HP:0002186HP:0007301Oromotor apraxia1KCNJ11 CL E G H376799886ORPHA03806257600937
HP:0002186HP:0000657Oculomotor apraxia1KCNJ11 CL E G H376799885ORPHA03806257600937
HP:0002186HP:0000657Oculomotor apraxia1KCNJ11 CL E G H376799886ORPHA03806257600937
HP:0002186HP:0007301Oromotor apraxia1KCNJ11 CL E G H376799885ORPHA03806257600937
HP:0002186HP:0000658Eyelid apraxia1KCNJ11 CL E G H376799885ORPHA03806257600937
HP:0002186HP:0000658Eyelid apraxia1KCNJ11 CL E G H376799886ORPHA03806257600937
HP:0002186HP:0030217Limb apraxia1KCNJ11 CL E G H376799885ORPHA03806257600937
HP:0002186HP:0030217Limb apraxia1KCNJ11 CL E G H376799886ORPHA03806257600937
HP:0002186HP:0032588Hand apraxia1KCNJ11 CL E G H376799885ORPHA03806257600937
HP:0002186HP:0032588Hand apraxia1KCNJ11 CL E G H376799886ORPHA03806257600937
HP:0002186HP:0011098Speech apraxia1KCNJ11 CL E G H376799886ORPHA03806257600937
HP:0002186HP:0010521Gait apraxia1KCNJ11 CL E G H376799885ORPHA03806257600937
HP:0002186HP:0010521Gait apraxia1KCNJ11 CL E G H376799886ORPHA03806257600937
HP:0002186HP:0011098Speech apraxia1KCNJ11 CL E G H376799885ORPHA03806257600937
HP:0002186HP:0000657Oculomotor apraxia1PDX1 CL E G H365199885ORPHA01456107600733
HP:0002186HP:0007301Oromotor apraxia1PDX1 CL E G H365199885ORPHA01456107600733
HP:0002186HP:0000658Eyelid apraxia1PDX1 CL E G H365199885ORPHA01456107600733
HP:0002186HP:0030217Limb apraxia1PDX1 CL E G H365199885ORPHA01456107600733
HP:0002186HP:0032588Hand apraxia1PDX1 CL E G H365199885ORPHA01456107600733
HP:0002186HP:0010521Gait apraxia1PDX1 CL E G H365199885ORPHA01456107600733
HP:0002186HP:0011098Speech apraxia1PDX1 CL E G H365199885ORPHA01456107600733
HP:0002186HP:0000657Oculomotor apraxia1PLAGL1 CL E G H532599886ORPHA0329046603044
HP:0002186HP:0007301Oromotor apraxia1PLAGL1 CL E G H532599886ORPHA0329046603044
HP:0002186HP:0000658Eyelid apraxia1PLAGL1 CL E G H532599886ORPHA0329046603044
HP:0002186HP:0030217Limb apraxia1PLAGL1 CL E G H532599886ORPHA0329046603044
HP:0002186HP:0032588Hand apraxia1PLAGL1 CL E G H532599886ORPHA0329046603044
HP:0002186HP:0010521Gait apraxia1PLAGL1 CL E G H532599886ORPHA0329046603044
HP:0002186HP:0011098Speech apraxia1PLAGL1 CL E G H532599886ORPHA0329046603044
HP:0002186HP:0007301Oromotor apraxia1SLC2A1 CL E G H651371277ORPHA082711005138140
HP:0002186HP:0000657Oculomotor apraxia1SLC2A1 CL E G H651371277ORPHA082711005138140
HP:0002186HP:0030217Limb apraxia1SLC2A1 CL E G H651371277ORPHA082711005138140
HP:0002186HP:0000658Eyelid apraxia1SLC2A1 CL E G H651371277ORPHA082711005138140
HP:0002186HP:0032588Hand apraxia1SLC2A1 CL E G H651371277ORPHA082711005138140
HP:0002186HP:0011098Speech apraxia1SLC2A1 CL E G H651371277ORPHA082711005138140
HP:0002186HP:0010521Gait apraxia1SLC2A1 CL E G H651371277ORPHA082711005138140
HP:0002186HP:0000657Oculomotor apraxia1SPG21 CL E G H51324248900Mast syndrome248900C1855346OMIM014520373608181
HP:0002186HP:0007301Oromotor apraxia1SPG21 CL E G H51324248900Mast syndrome248900C1855346OMIM014520373608181
HP:0002186HP:0000658Eyelid apraxia1SPG21 CL E G H51324248900Mast syndrome248900C1855346OMIM014520373608181
HP:0002186HP:0030217Limb apraxia1SPG21 CL E G H51324248900Mast syndrome248900C1855346OMIM014520373608181
HP:0002186HP:0032588Hand apraxia1SPG21 CL E G H51324248900Mast syndrome248900C1855346OMIM014520373608181
HP:0002186HP:0010521Gait apraxia1SPG21 CL E G H51324248900Mast syndrome248900C1855346OMIM014520373608181
HP:0002186HP:0011098Speech apraxia1SPG21 CL E G H51324248900Mast syndrome248900C1855346OMIM014520373608181
HP:0002186HP:0000657Oculomotor apraxia1STAT3 CL E G H677499885ORPHA050511364102582
HP:0002186HP:0007301Oromotor apraxia1STAT3 CL E G H677499885ORPHA050511364102582
HP:0002186HP:0000658Eyelid apraxia1STAT3 CL E G H677499885ORPHA050511364102582
HP:0002186HP:0030217Limb apraxia1STAT3 CL E G H677499885ORPHA050511364102582
HP:0002186HP:0032588Hand apraxia1STAT3 CL E G H677499885ORPHA050511364102582
HP:0002186HP:0010521Gait apraxia1STAT3 CL E G H677499885ORPHA050511364102582
HP:0002186HP:0011098Speech apraxia1STAT3 CL E G H677499885ORPHA050511364102582
HP:0002186HP:0000657Oculomotor apraxia1ZFP57 CL E G H34617199886ORPHA08718791612192
HP:0002186HP:0007301Oromotor apraxia1ZFP57 CL E G H34617199886ORPHA08718791612192
HP:0002186HP:0000658Eyelid apraxia1ZFP57 CL E G H34617199886ORPHA08718791612192
HP:0002186HP:0030217Limb apraxia1ZFP57 CL E G H34617199886ORPHA08718791612192
HP:0002186HP:0032588Hand apraxia1ZFP57 CL E G H34617199886ORPHA08718791612192
HP:0002186HP:0010521Gait apraxia1ZFP57 CL E G H34617199886ORPHA08718791612192
HP:0002186HP:0011098Speech apraxia1ZFP57 CL E G H34617199886ORPHA08718791612192


Genes (138) :AARS2 ABCA7 ABCC8 AFG3L2 AHI1 ANKRD55 APP APTX ARL13B ARL3 ARMC9 ATP13A2 ATP1A2 ATP6AP2 ATXN2 B9D1 BCR BRAF C9ORF72 C9orf72 CACNA1G CC2D2A CD247 CEP104 CEP120 CEP290 CEP41 CHCHD10 CHD1 CHD3 CHMP2B CPLANE1 CRKL CSF1R CSPP1 CWF19L1 DDOST DLAT DNM1L EBF3 EPM2A EXOSC3 FA2H FOXG1 FOXP1 FOXP2 FUS GALT GBA GCK GPAA1 GRID2 GRIN2A GRN HYLS1 HYMAI IFT172 IL2RA IL2RB INPP5E INS ITPR1 KCNJ11 KDM1A KIAA0556 KIAA0586 KIAA1109 LAMA1 MAPK1 MAPT MECP2 MKS1 MRE11 MYO9A NHLRC1 NPHP1 PACS1 PANK2 PDX1 PEX2 PIBF1 PIK3R5 PLA2G6 PLAGL1 PNKP PRNP PSEN1 PSEN2 PTPN2 PTPN22 RAI1 RNF135 RORA RPGRIP1L SETX SLC2A1 SLC30A9 SNX14 SORL1 SPART SPG21 SPR SQSTM1 SRPX2 STAT3 STAT4 STUB1 SUFU SYNJ1 TARDBP TBK1 TBP TCTN1 TCTN2 TMEM106B TMEM107 TMEM138 TMEM216 TMEM231 TMEM237 TMEM67 TOE1 TOMM40 TPP1 TRAPPC11 TREM2 TREX1 TTC19 TUBB3 TYROBP UBE3A UFC1 VCP VPS11 XRCC1 XRCC4 ZC4H2 ZFP57

Diseases (120) :615889 99886 99885 85408 602481 300423 275872 100070 105550 221820 617330 254780 613454 613670 617810 607485 778 612953 137440 607822 71277 616354 101001 248900 607136 247691 192315 615157 221770 238446 616541 1020 313772 614487 220493 475 608629 208920 612291 618161 306674 183090 617120 261330 115150 618087 216360 1454 616781 617761 610188 614464 529965 617682 618205 614615 397715 615636 453521 300536 245348 614388 614678 171629 602081 79239 230900 616204 245570 615630 213300 208513 616728 617822 615960 601104 312750 617121 251347 604391 618198 220497 609583 615009 234200 614867 64753 615217 199351 616267 1713 137634 618060 611560 606002 617595 101000 612716 617145 300643 412057 617757 615530 617562 617563 614465 608091 2752 614970 610688 614969 284324 615356 2770 300570 618076 466934 617633 3454 314580
 

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