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
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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 entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002186HP:0002186Apraxia0AARS2 CL E G H5750521022OMIM:615889Leukoencephalopathy, progressive, with ovarian failure.143
HP:0002186HP:0002186Apraxia0ABCA7 CL E G H1034737ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040283 - Occasional3
HP:0002186HP:0002186Apraxia0ABCC8 CL E G H683359ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040283 - Occasional245
HP:0002186HP:0002186Apraxia0ABCD1 CL E G H21561ORPHA:139396X-linked cerebral adrenoleukodystrophyHP:0040283 - Occasional135
HP:0002186HP:0002186Apraxia0ADGRG1 CL E G H92894512ORPHA:98889Bilateral perisylvian polymicrogyria88
HP:0002186HP:0002186Apraxia0AFG3L2 CL E G H10939315ORPHA:313772Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome86
HP:0002186HP:0002186Apraxia0AFG3L2 CL E G H10939315OMIM:614487Spastic ataxia 5, autosomal recessive86
HP:0002186HP:0002186Apraxia0AHI1 CL E G H5480621575ORPHA:475Joubert syndrome175
HP:0002186HP:0002186Apraxia0AHI1 CL E G H5480621575OMIM:608629Joubert syndrome 3175
HP:0002186HP:0002186Apraxia0AHI1 CL E G H5480621575ORPHA:220493Joubert syndrome with ocular defect175
HP:0002186HP:0002186Apraxia0APOE CL E G H348613OMIM:607822Alzheimer disease 3.39
HP:0002186HP:0002186Apraxia0APOE CL E G H348613OMIM:606889Alzheimer disease 439
HP:0002186HP:0002186Apraxia0APP CL E G H351620ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040283 - Occasional74
HP:0002186HP:0002186Apraxia0APTX CL E G H5484015984OMIM:208920Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia61
HP:0002186HP:0002186Apraxia0ARL13B CL E G H20089425419ORPHA:475Joubert syndrome62
HP:0002186HP:0002186Apraxia0ARL13B CL E G H20089425419OMIM:612291JOUBERT SYNDROME 8; JBTS862
HP:0002186HP:0002186Apraxia0ARL3 CL E G H403694ORPHA:475Joubert syndrome1
HP:0002186HP:0002186Apraxia0ARL3 CL E G H403694OMIM:618161JOUBERT SYNDROME 35; JBTS351
HP:0002186HP:0002186Apraxia0ARMC9 CL E G H8021020730ORPHA:475Joubert syndrome
HP:0002186HP:0002186Apraxia0ARPC4 CL E G H10093707OMIM:620141
HP:0002186HP:0002186Apraxia0ATP13A2 CL E G H2340030213ORPHA:306674Kufor-Rakeb syndrome100
HP:0002186HP:0002186Apraxia0ATP1A2 CL E G H477800ORPHA:2131Alternating hemiplegia of childhood239
HP:0002186HP:0002186Apraxia0ATP1A2 CL E G H477800OMIM:602481Migraine, familial hemiplegic, 2.239
HP:0002186HP:0002186Apraxia0ATP1A3 CL E G H478801ORPHA:2131Alternating hemiplegia of childhood150
HP:0002186HP:0002186Apraxia0ATP6AP2 CL E G H1015918305OMIM:300423MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH36
HP:0002186HP:0002186Apraxia0ATP6AP2 CL E G H1015918305ORPHA:93952X-linked intellectual disability, Hedera typeHP:0040283 - Occasional36
HP:0002186HP:0002186Apraxia0ATXN2 CL E G H631110555OMIM:183090Spinocerebellar ataxia 211
HP:0002186HP:0002186Apraxia0B9D1 CL E G H2707724123ORPHA:475Joubert syndrome28
HP:0002186HP:0002186Apraxia0B9D1 CL E G H2707724123OMIM:617120Joubert syndrome 2728
HP:0002186HP:0002186Apraxia0B9D2 CL E G H8077628636ORPHA:475Joubert syndrome34
HP:0002186HP:0002186Apraxia0BCR CL E G H6131014ORPHA:261330Distal 22q11.2 microdeletion syndrome5
HP:0002186HP:0002186Apraxia0BLTP1 CL E G H8416226953OMIM:617822Alkuraya-Kucinskas syndrome
HP:0002186HP:0002186Apraxia0BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1276
HP:0002186HP:0002186Apraxia0C9ORF72 CL E G H20322828337OMIM:105550Amyotrophic lateral sclerosis and/or frontotemporal dementia 1.56
HP:0002186HP:0002186Apraxia0C9ORF72 CL E G H20322828337ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040282 - Frequent56
HP:0002186HP:0002186Apraxia0C9ORF72 CL E G H20322828337ORPHA:100070Progressive non-fluent aphasiaHP:0040282 - Frequent56
HP:0002186HP:0002186Apraxia0CACNA1A CL E G H7731388ORPHA:2131Alternating hemiplegia of childhood449
HP:0002186HP:0002186Apraxia0CACNA1G CL E G H89131394OMIM:618087Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits32
HP:0002186HP:0002186Apraxia0CBY1 CL E G H257761307ORPHA:475Joubert syndrome1
HP:0002186HP:0002186Apraxia0CC2D2A CL E G H5754529253OMIM:619111COACH SYNDROME 2; COACH2247
HP:0002186HP:0002186Apraxia0CC2D2A CL E G H5754529253OMIM:612285Joubert syndrome 9247
HP:0002186HP:0002186Apraxia0CC2D2A CL E G H5754529253ORPHA:1454Joubert syndrome with hepatic defect247
HP:0002186HP:0002186Apraxia0CDKL5 CL E G H679211411ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent405
HP:0002186HP:0002186Apraxia0CDON CL E G H5093717104ORPHA:93925Alobar holoprosencephaly200
HP:0002186HP:0002186Apraxia0CDON CL E G H5093717104ORPHA:93924Lobar holoprosencephaly200
HP:0002186HP:0002186Apraxia0CDON CL E G H5093717104ORPHA:93926Midline interhemispheric variant of holoprosencephaly200
HP:0002186HP:0002186Apraxia0CDON CL E G H5093717104ORPHA:220386Semilobar holoprosencephaly200
HP:0002186HP:0002186Apraxia0CEP104 CL E G H973124866ORPHA:475Joubert syndrome5
HP:0002186HP:0002186Apraxia0CEP104 CL E G H973124866OMIM:616781Joubert syndrome 255
HP:0002186HP:0002186Apraxia0CEP120 CL E G H15324126690ORPHA:475Joubert syndrome7
HP:0002186HP:0002186Apraxia0CEP120 CL E G H15324126690OMIM:617761Joubert syndrome 317
HP:0002186HP:0002186Apraxia0CEP120 CL E G H15324126690ORPHA:220493Joubert syndrome with ocular defect7
HP:0002186HP:0002186Apraxia0CEP290 CL E G H8018429021OMIM:610188Joubert syndrome 5342
HP:0002186HP:0002186Apraxia0CEP41 CL E G H9568112370ORPHA:475Joubert syndrome90
HP:0002186HP:0002186Apraxia0CEP41 CL E G H9568112370OMIM:614464Joubert syndrome 1590
HP:0002186HP:0002186Apraxia0CEP41 CL E G H9568112370ORPHA:220493Joubert syndrome with ocular defect90
HP:0002186HP:0002186Apraxia0CHCHD10 CL E G H40091615559ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040282 - Frequent11
HP:0002186HP:0002186Apraxia0CHD1 CL E G H11051915ORPHA:529965Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome2
HP:0002186HP:0002186Apraxia0CHD1 CL E G H11051915OMIM:617682Pilarowski-Bjornsson syndrome2
HP:0002186HP:0002186Apraxia0CHD3 CL E G H11071918OMIM:618205Snijders blok-campeau syndrome2
HP:0002186HP:0002186Apraxia0CHMP2B CL E G H2597824537ORPHA:100070Progressive non-fluent aphasiaHP:0040282 - Frequent42
HP:0002186HP:0002186Apraxia0CLTC CL E G H12132092OMIM:617854Mental retardation, autosomal dominant 561
HP:0002186HP:0002186Apraxia0CPLANE1 CL E G H6525025801ORPHA:475Joubert syndrome
HP:0002186HP:0002186Apraxia0CPLANE1 CL E G H6525025801OMIM:614615Joubert syndrome 17
HP:0002186HP:0002186Apraxia0CRKL CL E G H13992363ORPHA:261330Distal 22q11.2 microdeletion syndrome
HP:0002186HP:0002186Apraxia0CSF1R CL E G H14362433OMIM:221820Leukoencephalopathy, diffuse hereditary, with spheroids.149
HP:0002186HP:0002186Apraxia0CSPP1 CL E G H7984826193ORPHA:475Joubert syndrome57
HP:0002186HP:0002186Apraxia0CSPP1 CL E G H7984826193OMIM:615636Joubert syndrome 2157
HP:0002186HP:0002186Apraxia0CSPP1 CL E G H7984826193ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophy57
HP:0002186HP:0002186Apraxia0CWF19L1 CL E G H5528025613ORPHA:453521Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency9
HP:0002186HP:0002186Apraxia0CWF19L1 CL E G H5528025613OMIM:616127Spinocerebellar ataxia, autosomal recessive 179
HP:0002186HP:0002186Apraxia0DDOST CL E G H16502728ORPHA:300536DDOST-CDG62
HP:0002186HP:0002186Apraxia0DISP1 CL E G H8497619711ORPHA:93925Alobar holoprosencephaly22
HP:0002186HP:0002186Apraxia0DISP1 CL E G H8497619711ORPHA:93924Lobar holoprosencephaly22
HP:0002186HP:0002186Apraxia0DISP1 CL E G H8497619711ORPHA:93926Midline interhemispheric variant of holoprosencephaly22
HP:0002186HP:0002186Apraxia0DISP1 CL E G H8497619711ORPHA:220386Semilobar holoprosencephaly22
HP:0002186HP:0002186Apraxia0DLAT CL E G H17372896ORPHA:79244Pyruvate dehydrogenase E2 deficiency82
HP:0002186HP:0002186Apraxia0DLAT CL E G H17372896OMIM:245348Pyruvate dehydrogenase E2 deficiency82
HP:0002186HP:0002186Apraxia0DLL1 CL E G H285142908ORPHA:93925Alobar holoprosencephaly3
HP:0002186HP:0002186Apraxia0DLL1 CL E G H285142908ORPHA:93924Lobar holoprosencephaly3
HP:0002186HP:0002186Apraxia0DLL1 CL E G H285142908ORPHA:93926Midline interhemispheric variant of holoprosencephaly3
HP:0002186HP:0002186Apraxia0DLL1 CL E G H285142908ORPHA:220386Semilobar holoprosencephaly3
HP:0002186HP:0002186Apraxia0DMPK CL E G H17602933ORPHA:589821Congenital-onset Steinert myotonic dystrophy152
HP:0002186HP:0002186Apraxia0DNM1L CL E G H100592973OMIM:614388Encephalopathy due to defective mitochondrial and peroxisomal fission 194
HP:0002186HP:0002186Apraxia0EBF3 CL E G H25373819087OMIM:617330HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS25
HP:0002186HP:0002186Apraxia0EPM2A CL E G H79573413OMIM:254780Myoclonic epilepsy of lafora.83
HP:0002186HP:0002186Apraxia0EXOSC3 CL E G H5101017944OMIM:614678Pontocerebellar hypoplasia, type 1B38
HP:0002186HP:0002186Apraxia0FA2H CL E G H7915221197ORPHA:171629Autosomal recessive spastic paraplegia type 3576
HP:0002186HP:0002186Apraxia0FGF8 CL E G H22533686ORPHA:93925Alobar holoprosencephaly17
HP:0002186HP:0002186Apraxia0FGF8 CL E G H22533686ORPHA:93924Lobar holoprosencephaly17
HP:0002186HP:0002186Apraxia0FGF8 CL E G H22533686ORPHA:93926Midline interhemispheric variant of holoprosencephaly17
HP:0002186HP:0002186Apraxia0FGF8 CL E G H22533686ORPHA:220386Semilobar holoprosencephaly17
HP:0002186HP:0002186Apraxia0FGFR1 CL E G H22603688ORPHA:93924Lobar holoprosencephaly172
HP:0002186HP:0002186Apraxia0FGFR1 CL E G H22603688ORPHA:220386Semilobar holoprosencephaly172
HP:0002186HP:0002186Apraxia0FOXG1 CL E G H22903811OMIM:613454Rett syndrome, congenital variant.177
HP:0002186HP:0002186Apraxia0FOXH1 CL E G H89283814ORPHA:93925Alobar holoprosencephaly48
HP:0002186HP:0002186Apraxia0FOXH1 CL E G H89283814ORPHA:93924Lobar holoprosencephaly48
HP:0002186HP:0002186Apraxia0FOXH1 CL E G H89283814ORPHA:93926Midline interhemispheric variant of holoprosencephaly48
HP:0002186HP:0002186Apraxia0FOXH1 CL E G H89283814ORPHA:220386Semilobar holoprosencephaly48
HP:0002186HP:0002186Apraxia0FOXP1 CL E G H270863823ORPHA:391372Intellectual disability-severe speech delay-mild dysmorphism syndrome184
HP:0002186HP:0002186Apraxia0FOXP1 CL E G H270863823OMIM:613670Mental retardation with language impairment and with or without autistic features184
HP:0002186HP:0002186Apraxia0FOXP2 CL E G H9398613875ORPHA:209908Childhood apraxia of speech143
HP:0002186HP:0002186Apraxia0FOXP2 CL E G H9398613875OMIM:602081Speech-language disorder-1143
HP:0002186HP:0002186Apraxia0FRRS1L CL E G H237321362ORPHA:725Continuous spikes and waves during sleep4
HP:0002186HP:0002186Apraxia0FUS CL E G H25214010ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040282 - Frequent105
HP:0002186HP:0002186Apraxia0GABBR2 CL E G H95684507ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent5
HP:0002186HP:0002186Apraxia0GALK1 CL E G H25844118ORPHA:79237Galactokinase deficiency23
HP:0002186HP:0002186Apraxia0GALT CL E G H25924135ORPHA:79239Classic galactosemia351
HP:0002186HP:0002186Apraxia0GAS1 CL E G H26194165ORPHA:93925Alobar holoprosencephaly2
HP:0002186HP:0002186Apraxia0GAS1 CL E G H26194165ORPHA:93924Lobar holoprosencephaly2
HP:0002186HP:0002186Apraxia0GAS1 CL E G H26194165ORPHA:93926Midline interhemispheric variant of holoprosencephaly2
HP:0002186HP:0002186Apraxia0GAS1 CL E G H26194165ORPHA:220386Semilobar holoprosencephaly2
HP:0002186HP:0002186Apraxia0GBA1 CL E G H26294177OMIM:230900Gaucher disease, type II
HP:0002186HP:0002186Apraxia0GBA1 CL E G H26294177ORPHA:2072Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0002186HP:0002186Apraxia0GCK CL E G H26454195ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040283 - Occasional237
HP:0002186HP:0002186Apraxia0GLI2 CL E G H27364318ORPHA:93925Alobar holoprosencephaly173
HP:0002186HP:0002186Apraxia0GLI2 CL E G H27364318ORPHA:93924Lobar holoprosencephaly173
HP:0002186HP:0002186Apraxia0GLI2 CL E G H27364318ORPHA:93926Midline interhemispheric variant of holoprosencephaly173
HP:0002186HP:0002186Apraxia0GLI2 CL E G H27364318ORPHA:220386Semilobar holoprosencephaly173
HP:0002186HP:0002186Apraxia0GPAA1 CL E G H87334446OMIM:617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15
HP:0002186HP:0002186Apraxia0GPAA1 CL E G H87334446ORPHA:529665Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome
HP:0002186HP:0002186Apraxia0GRID2 CL E G H28954576OMIM:616204SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR1818
HP:0002186HP:0002186Apraxia0GRIN2A CL E G H29034585ORPHA:725Continuous spikes and waves during sleep434
HP:0002186HP:0002186Apraxia0GRIN2A CL E G H29034585OMIM:245570EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD434
HP:0002186HP:0002186Apraxia0GRIN2A CL E G H29034585ORPHA:98818Landau-Kleffner syndrome434
HP:0002186HP:0002186Apraxia0GRIN2A CL E G H29034585ORPHA:163721Rolandic epilepsy-speech dyspraxia syndrome434
HP:0002186HP:0002186Apraxia0GRN CL E G H28964601OMIM:607485Frontotemporal lobar degeneration with TDP43 inclusions.126
HP:0002186HP:0002186Apraxia0GRN CL E G H28964601ORPHA:100070Progressive non-fluent aphasiaHP:0040282 - Frequent126
HP:0002186HP:0002186Apraxia0H4C11 CL E G H83634785OMIM:619759TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEVANED2
HP:0002186HP:0002186Apraxia0HTRA1 CL E G H56549476OMIM:600142Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)34
HP:0002186HP:0002186Apraxia0HYLS1 CL E G H21984426558ORPHA:475Joubert syndrome31
HP:0002186HP:0002186Apraxia0IFT172 CL E G H2616030391OMIM:615630Short-Rib thoracic dysplasia 10 with or without polydactyly48
HP:0002186HP:0002186Apraxia0IFT74 CL E G H8017321424OMIM:619582JOUBERT SYNDROME 40; JBTS403
HP:0002186HP:0002186Apraxia0INPP5E CL E G H5662321474ORPHA:475Joubert syndrome111
HP:0002186HP:0002186Apraxia0INPP5E CL E G H5662321474OMIM:213300Joubert syndrome 1111
HP:0002186HP:0002186Apraxia0INPP5E CL E G H5662321474ORPHA:1454Joubert syndrome with hepatic defect111
HP:0002186HP:0002186Apraxia0INPP5E CL E G H5662321474ORPHA:220493Joubert syndrome with ocular defect111
HP:0002186HP:0002186Apraxia0INS CL E G H36306081ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040283 - Occasional62
HP:0002186HP:0002186Apraxia0ITPR1 CL E G H37086180ORPHA:208513Spinocerebellar ataxia type 29177
HP:0002186HP:0002186Apraxia0KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndrome283
HP:0002186HP:0002186Apraxia0KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutation283
HP:0002186HP:0002186Apraxia0KATNIP CL E G H2324729068ORPHA:475Joubert syndrome
HP:0002186HP:0002186Apraxia0KCNH1 CL E G H37566250OMIM:135500Zimmermann-Laband syndrome 113
HP:0002186HP:0002186Apraxia0KCNJ11 CL E G H37676257ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040283 - Occasional127
HP:0002186HP:0002186Apraxia0KDM1A CL E G H2302829079OMIM:616728Cleft palate, psychomotor retardation, and distinctive facial features3
HP:0002186HP:0002186Apraxia0KDM1A CL E G H2302829079ORPHA:477993Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome3
HP:0002186HP:0002186Apraxia0KDM6B CL E G H2313529012OMIM:618505Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities9
HP:0002186HP:0002186Apraxia0KIAA0586 CL E G H978619960ORPHA:475Joubert syndrome24
HP:0002186HP:0002186Apraxia0KIAA0586 CL E G H978619960ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophy24
HP:0002186HP:0002186Apraxia0KIAA0753 CL E G H985129110OMIM:619476JOUBERT SYNDROME 38; JBTS384
HP:0002186HP:0002186Apraxia0LAMA1 CL E G H2842176481ORPHA:370022Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome35
HP:0002186HP:0002186Apraxia0LAMA1 CL E G H2842176481OMIM:615960Poretti-Boltshauser syndrome35
HP:0002186HP:0002186Apraxia0MAPK1 CL E G H55946871ORPHA:261330Distal 22q11.2 microdeletion syndrome2
HP:0002186HP:0002186Apraxia0MAPT CL E G H41376893ORPHA:100070Progressive non-fluent aphasiaHP:0040282 - Frequent140
HP:0002186HP:0002186Apraxia0MAPT CL E G H41376893ORPHA:240103Progressive supranuclear palsy-corticobasal syndromeHP:0040281 - Very frequent140
HP:0002186HP:0002186Apraxia0MAPT CL E G H41376893ORPHA:240112Progressive supranuclear palsy-progressive non-fluent aphasia syndrome140
HP:0002186HP:0002186Apraxia0MAPT CL E G H41376893ORPHA:240094Progressive supranuclear palsy-pure akinesia with gait freezing syndrome140
HP:0002186HP:0002186Apraxia0MAPT CL E G H41376893OMIM:601104Supranuclear palsy, progressive, 1140
HP:0002186HP:0002186Apraxia0MAST1 CL E G H2298319034OMIM:618273Mega-Corpus-Callosum syndrome with cerebellar hypoplasia and cortical malformations1
HP:0002186HP:0002186Apraxia0MECP2 CL E G H42046990ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent950
HP:0002186HP:0002186Apraxia0MECP2 CL E G H42046990OMIM:300055Mental retardation, X-linked, syndromic 13950
HP:0002186HP:0002186Apraxia0MECP2 CL E G H42046990OMIM:312750Rett syndrome950
HP:0002186HP:0002186Apraxia0MECP2 CL E G H42046990ORPHA:778Rett syndrome950
HP:0002186HP:0002186Apraxia0MED13 CL E G H996922474OMIM:618009INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD614
HP:0002186HP:0002186Apraxia0MKS1 CL E G H549037121ORPHA:475Joubert syndrome127
HP:0002186HP:0002186Apraxia0MKS1 CL E G H549037121OMIM:617121JOUBERT SYNDROME 28; JBTS28127
HP:0002186HP:0002186Apraxia0MKS1 CL E G H549037121ORPHA:220493Joubert syndrome with ocular defect127
HP:0002186HP:0002186Apraxia0MRE11 CL E G H43617230ORPHA:251347Ataxia-telangiectasia-like disorder532
HP:0002186HP:0002186Apraxia0MRE11 CL E G H43617230OMIM:604391Ataxia-Telangiectasia-Like disorder 1532
HP:0002186HP:0002186Apraxia0MYO9A CL E G H46497608OMIM:618198Myasthenic syndrome, congenital, 24, presynaptic
HP:0002186HP:0002186Apraxia0NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndrome32
HP:0002186HP:0002186Apraxia0NHLRC1 CL E G H37888421576OMIM:254780Myoclonic epilepsy of lafora.77
HP:0002186HP:0002186Apraxia0NKX2-1 CL E G H708011825ORPHA:209905Brain-lung-thyroid syndromeHP:0040283 - Occasional51
HP:0002186HP:0002186Apraxia0NODAL CL E G H48387865ORPHA:93925Alobar holoprosencephaly45
HP:0002186HP:0002186Apraxia0NODAL CL E G H48387865ORPHA:93924Lobar holoprosencephaly45
HP:0002186HP:0002186Apraxia0NODAL CL E G H48387865ORPHA:93926Midline interhemispheric variant of holoprosencephaly45
HP:0002186HP:0002186Apraxia0NODAL CL E G H48387865ORPHA:220386Semilobar holoprosencephaly45
HP:0002186HP:0002186Apraxia0NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndrome10
HP:0002186HP:0002186Apraxia0NONO CL E G H48417871OMIM:300967MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS3410
HP:0002186HP:0002186Apraxia0NPHP1 CL E G H48677905OMIM:609583Joubert syndrome 485
HP:0002186HP:0002186Apraxia0NPHP1 CL E G H48677905ORPHA:220497Joubert syndrome with renal defect85
HP:0002186HP:0002186Apraxia0NTNG1 CL E G H2285423319ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent1
HP:0002186HP:0002186Apraxia0PACS1 CL E G H5569030032OMIM:615009Schuurs-Hoeijmakers syndrome24
HP:0002186HP:0002186Apraxia0PANK2 CL E G H8002515894OMIM:234200Neurodegeneration with brain iron accumulation 155
HP:0002186HP:0002186Apraxia0PDE6D CL E G H51478788OMIM:615665Joubert syndrome 221
HP:0002186HP:0002186Apraxia0PDX1 CL E G H36516107ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040283 - Occasional30
HP:0002186HP:0002186Apraxia0PEX2 CL E G H58289717OMIM:614867Peroxisome biogenesis disorder 5B82
HP:0002186HP:0002186Apraxia0PGAP2 CL E G H2731517893ORPHA:247262Hyperphosphatasia-intellectual disability syndrome8
HP:0002186HP:0002186Apraxia0PGAP3 CL E G H9321023719ORPHA:247262Hyperphosphatasia-intellectual disability syndrome20
HP:0002186HP:0002186Apraxia0PI4KA CL E G H52978983ORPHA:98889Bilateral perisylvian polymicrogyria11
HP:0002186HP:0002186Apraxia0PIBF1 CL E G H1046423352ORPHA:475Joubert syndrome4
HP:0002186HP:0002186Apraxia0PIBF1 CL E G H1046423352OMIM:617767Joubert syndrome 334
HP:0002186HP:0002186Apraxia0PIGL CL E G H94878966ORPHA:247262Hyperphosphatasia-intellectual disability syndrome36
HP:0002186HP:0002186Apraxia0PIGO CL E G H8472023215ORPHA:247262Hyperphosphatasia-intellectual disability syndrome84
HP:0002186HP:0002186Apraxia0PIGV CL E G H5565026031ORPHA:247262Hyperphosphatasia-intellectual disability syndrome57
HP:0002186HP:0002186Apraxia0PIGW CL E G H28409823213ORPHA:247262Hyperphosphatasia-intellectual disability syndrome6
HP:0002186HP:0002186Apraxia0PIGY CL E G H8499228213ORPHA:247262Hyperphosphatasia-intellectual disability syndrome2
HP:0002186HP:0002186Apraxia0PIK3R5 CL E G H2353330035OMIM:615217Ataxia-Oculomotor apraxia 311
HP:0002186HP:0002186Apraxia0PIK3R5 CL E G H2353330035ORPHA:64753Spinocerebellar ataxia with axonal neuropathy type 211
HP:0002186HP:0002186Apraxia0PLA2G6 CL E G H83989039ORPHA:199351Adult-onset dystonia-parkinsonism133
HP:0002186HP:0002186Apraxia0PLA2G6 CL E G H83989039OMIM:612953Parkinson disease 14, autosomal recessive.133
HP:0002186HP:0002186Apraxia0PLCH1 CL E G H2300729185ORPHA:93925Alobar holoprosencephaly
HP:0002186HP:0002186Apraxia0PLP1 CL E G H53549086ORPHA:280229Pelizaeus-Merzbacher disease in female carriers60
HP:0002186HP:0002186Apraxia0PMPCA CL E G H2320318667ORPHA:1170Autosomal recessive cerebelloparenchymal disorder type 37
HP:0002186HP:0002186Apraxia0PNKP CL E G H112849154OMIM:616267Ataxia-Oculomotor apraxia 4244
HP:0002186HP:0002186Apraxia0PNKP CL E G H112849154ORPHA:459033Ataxia-oculomotor apraxia type 4244
HP:0002186HP:0002186Apraxia0PNPT1 CL E G H8717823166OMIM:608703Spinocerebellar ataxia 2560
HP:0002186HP:0002186Apraxia0POU4F1 CL E G H54579218OMIM:619352ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET; ATITHS
HP:0002186HP:0002186Apraxia0PRKAR1B CL E G H55759390OMIM:619680MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS2
HP:0002186HP:0002186Apraxia0PRNP CL E G H56219449OMIM:137440Gerstmann-Straussler disease.69
HP:0002186HP:0002186Apraxia0PSEN1 CL E G H56639508OMIM:607822Alzheimer disease 3.241
HP:0002186HP:0002186Apraxia0PSEN1 CL E G H56639508ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040283 - Occasional241
HP:0002186HP:0002186Apraxia0PSEN1 CL E G H56639508ORPHA:100070Progressive non-fluent aphasiaHP:0040282 - Frequent241
HP:0002186HP:0002186Apraxia0PSEN2 CL E G H56649509OMIM:606889Alzheimer disease 459
HP:0002186HP:0002186Apraxia0PSEN2 CL E G H56649509ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040283 - Occasional59
HP:0002186HP:0002186Apraxia0PTCH1 CL E G H57279585ORPHA:93925Alobar holoprosencephaly665
HP:0002186HP:0002186Apraxia0PTCH1 CL E G H57279585ORPHA:93924Lobar holoprosencephaly665
HP:0002186HP:0002186Apraxia0PTCH1 CL E G H57279585ORPHA:93926Midline interhemispheric variant of holoprosencephaly665
HP:0002186HP:0002186Apraxia0PTCH1 CL E G H57279585ORPHA:220386Semilobar holoprosencephaly665
HP:0002186HP:0002186Apraxia0PURA CL E G H58139701ORPHA:314655Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion53
HP:0002186HP:0002186Apraxia0RAI1 CL E G H107439834ORPHA:171317p11.2 microduplication syndrome150
HP:0002186HP:0002186Apraxia0RNF135 CL E G H8428221158ORPHA:137634Overgrowth-macrocephaly-facial dysmorphism syndrome11
HP:0002186HP:0002186Apraxia0RORA CL E G H609510258OMIM:618060INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA1
HP:0002186HP:0002186Apraxia0RPGRIP1L CL E G H2332229168OMIM:619113COACH SYNDROME 3; COACH3167
HP:0002186HP:0002186Apraxia0RPGRIP1L CL E G H2332229168OMIM:611560Joubert syndrome 7167
HP:0002186HP:0002186Apraxia0RPGRIP1L CL E G H2332229168ORPHA:1454Joubert syndrome with hepatic defect167
HP:0002186HP:0002186Apraxia0RPGRIP1L CL E G H2332229168ORPHA:220497Joubert syndrome with renal defect167
HP:0002186HP:0002186Apraxia0SETX CL E G H23064445ORPHA:64753Spinocerebellar ataxia with axonal neuropathy type 2162
HP:0002186HP:0002186Apraxia0SETX CL E G H23064445OMIM:606002Spinocerebellar ataxia, autosomal recessive 1162
HP:0002186HP:0002186Apraxia0SH2B1 CL E G H2597030417ORPHA:261197Proximal 16p11.2 microdeletion syndrome
HP:0002186HP:0002186Apraxia0SHH CL E G H646910848ORPHA:93925Alobar holoprosencephaly67
HP:0002186HP:0002186Apraxia0SHH CL E G H646910848ORPHA:93924Lobar holoprosencephaly67
HP:0002186HP:0002186Apraxia0SHH CL E G H646910848ORPHA:93926Midline interhemispheric variant of holoprosencephaly67
HP:0002186HP:0002186Apraxia0SHH CL E G H646910848ORPHA:220386Semilobar holoprosencephaly67
HP:0002186HP:0002186Apraxia0SIX3 CL E G H649610889ORPHA:93925Alobar holoprosencephaly32
HP:0002186HP:0002186Apraxia0SIX3 CL E G H649610889ORPHA:93924Lobar holoprosencephaly32
HP:0002186HP:0002186Apraxia0SIX3 CL E G H649610889ORPHA:93926Midline interhemispheric variant of holoprosencephaly32
HP:0002186HP:0002186Apraxia0SIX3 CL E G H649610889ORPHA:220386Semilobar holoprosencephaly32
HP:0002186HP:0002186Apraxia0SLC1A3 CL E G H650710941ORPHA:2131Alternating hemiplegia of childhood63
HP:0002186HP:0002186Apraxia0SLC25A15 CL E G H1016610985ORPHA:415Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome88
HP:0002186HP:0002186Apraxia0SLC2A1 CL E G H651311005ORPHA:71277Classic glucose transporter type 1 deficiency syndromeHP:0040283 - Occasional255
HP:0002186HP:0002186Apraxia0SLC30A9 CL E G H104631329OMIM:617595Birk-Landau-Perez syndrome1
HP:0002186HP:0002186Apraxia0SLC6A8 CL E G H653511055OMIM:300352Creatine deficiency syndrome, X-linked122
HP:0002186HP:0002186Apraxia0SMC1A CL E G H824311111ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent135
HP:0002186HP:0002186Apraxia0SMC1A CL E G H824311111ORPHA:220386Semilobar holoprosencephaly135
HP:0002186HP:0002186Apraxia0SMPD1 CL E G H660911120ORPHA:77293Niemann-Pick disease type BHP:0040284 - Very rare164
HP:0002186HP:0002186Apraxia0SNX14 CL E G H5723114977ORPHA:397709Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndromeHP:0040283 - Occasional14
HP:0002186HP:0002186Apraxia0SNX14 CL E G H5723114977OMIM:616354Spinocerebellar ataxia, autosomal recessive 20.14
HP:0002186HP:0002186Apraxia0SORL1 CL E G H665311185ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040283 - Occasional3
HP:0002186HP:0002186Apraxia0SOX3 CL E G H665811199ORPHA:67045X-linked intellectual disability with isolated growth hormone deficiency24
HP:0002186HP:0002186Apraxia0SPART CL E G H2311118514ORPHA:101000Autosomal recessive spastic paraplegia type 2066
HP:0002186HP:0002186Apraxia0SPG21 CL E G H5132420373ORPHA:101001Autosomal recessive spastic paraplegia type 21HP:0040282 - Frequent28
HP:0002186HP:0002186Apraxia0SPG21 CL E G H5132420373OMIM:248900Mast syndromeHP:0040283 - Occasional28
HP:0002186HP:0002186Apraxia0SPR CL E G H669711257OMIM:612716Dystonia, dopa-responsive, due to sepiapterin reductase deficiency28
HP:0002186HP:0002186Apraxia0SQSTM1 CL E G H887811280ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040282 - Frequent62
HP:0002186HP:0002186Apraxia0SQSTM1 CL E G H887811280OMIM:617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset62
HP:0002186HP:0002186Apraxia0SRCAP CL E G H1084716974ORPHA:2044Floating-Harbor syndrome138
HP:0002186HP:0002186Apraxia0SRPX2 CL E G H2728630668ORPHA:98889Bilateral perisylvian polymicrogyria50
HP:0002186HP:0002186Apraxia0SRPX2 CL E G H2728630668OMIM:300643Rolandic epilepsy, mental retardation, and speech dyspraxia50
HP:0002186HP:0002186Apraxia0SRPX2 CL E G H2728630668ORPHA:163721Rolandic epilepsy-speech dyspraxia syndrome50
HP:0002186HP:0002186Apraxia0STAG2 CL E G H1073511355ORPHA:93925Alobar holoprosencephaly1
HP:0002186HP:0002186Apraxia0STAG2 CL E G H1073511355ORPHA:220386Semilobar holoprosencephaly1
HP:0002186HP:0002186Apraxia0STAT3 CL E G H677411364ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040283 - Occasional110
HP:0002186HP:0002186Apraxia0STIL CL E G H649110879ORPHA:93925Alobar holoprosencephaly99
HP:0002186HP:0002186Apraxia0STIL CL E G H649110879ORPHA:93924Lobar holoprosencephaly99
HP:0002186HP:0002186Apraxia0STIL CL E G H649110879ORPHA:93926Midline interhemispheric variant of holoprosencephaly99
HP:0002186HP:0002186Apraxia0STIL CL E G H649110879ORPHA:220386Semilobar holoprosencephaly99
HP:0002186HP:0002186Apraxia0STUB1 CL E G H1027311427ORPHA:412057Autosomal recessive cerebellar ataxia due to STUB1 deficiency14
HP:0002186HP:0002186Apraxia0SUFU CL E G H5168416466ORPHA:475Joubert syndrome124
HP:0002186HP:0002186Apraxia0SUFU CL E G H5168416466OMIM:617757Joubert syndrome 32124
HP:0002186HP:0002186Apraxia0SYNJ1 CL E G H886711503OMIM:615530Parkinson disease 20, early-onset9
HP:0002186HP:0002186Apraxia0TARDBP CL E G H2343511571ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040282 - Frequent65
HP:0002186HP:0002186Apraxia0TBK1 CL E G H2911011584ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040282 - Frequent20
HP:0002186HP:0002186Apraxia0TBP CL E G H690811588OMIM:607136Spinocerebellar ataxia 17.7
HP:0002186HP:0002186Apraxia0TCTN1 CL E G H7960026113ORPHA:475Joubert syndrome45
HP:0002186HP:0002186Apraxia0TCTN2 CL E G H7986725774ORPHA:475Joubert syndrome76
HP:0002186HP:0002186Apraxia0TDGF1 CL E G H699711701ORPHA:93925Alobar holoprosencephaly1
HP:0002186HP:0002186Apraxia0TDGF1 CL E G H699711701ORPHA:93924Lobar holoprosencephaly1
HP:0002186HP:0002186Apraxia0TDGF1 CL E G H699711701ORPHA:93926Midline interhemispheric variant of holoprosencephaly1
HP:0002186HP:0002186Apraxia0TDGF1 CL E G H699711701ORPHA:220386Semilobar holoprosencephaly1
HP:0002186HP:0002186Apraxia0TGIF1 CL E G H705011776ORPHA:93925Alobar holoprosencephaly32
HP:0002186HP:0002186Apraxia0TGIF1 CL E G H705011776ORPHA:93924Lobar holoprosencephaly32
HP:0002186HP:0002186Apraxia0TGIF1 CL E G H705011776ORPHA:93926Midline interhemispheric variant of holoprosencephaly32
HP:0002186HP:0002186Apraxia0TGIF1 CL E G H705011776ORPHA:220386Semilobar holoprosencephaly32
HP:0002186HP:0002186Apraxia0TIMM8A CL E G H167811817ORPHA:52368Mohr-Tranebjaerg syndromeHP:0040283 - Occasional15
HP:0002186HP:0002186Apraxia0TMEM106B CL E G H5466422407ORPHA:100070Progressive non-fluent aphasiaHP:0040282 - Frequent
HP:0002186HP:0002186Apraxia0TMEM107 CL E G H8431428128OMIM:617562Meckel syndrome 134
HP:0002186HP:0002186Apraxia0TMEM107 CL E G H8431428128OMIM:617563Orofaciodigital syndrome XVI4
HP:0002186HP:0002186Apraxia0TMEM138 CL E G H5152426944OMIM:614465JOUBERT SYNDROME 16; JBTS1639
HP:0002186HP:0002186Apraxia0TMEM216 CL E G H5125925018OMIM:608091Joubert syndrome 245
HP:0002186HP:0002186Apraxia0TMEM218 CL E G H21985427344ORPHA:475Joubert syndrome
HP:0002186HP:0002186Apraxia0TMEM218 CL E G H21985427344OMIM:619562JOUBERT SYNDROME 39; JBTS39
HP:0002186HP:0002186Apraxia0TMEM231 CL E G H7958337234OMIM:614970Joubert syndrome 2033
HP:0002186HP:0002186Apraxia0TMEM231 CL E G H7958337234ORPHA:2752Orofaciodigital syndrome type 333
HP:0002186HP:0002186Apraxia0TMEM237 CL E G H6506214432ORPHA:475Joubert syndrome82
HP:0002186HP:0002186Apraxia0TMEM237 CL E G H6506214432ORPHA:220497Joubert syndrome with renal defect82
HP:0002186HP:0002186Apraxia0TMEM67 CL E G H9114728396OMIM:216360Coach syndrome 1166
HP:0002186HP:0002186Apraxia0TMEM67 CL E G H9114728396ORPHA:475Joubert syndrome166
HP:0002186HP:0002186Apraxia0TMEM67 CL E G H9114728396OMIM:610688Joubert syndrome 6166
HP:0002186HP:0002186Apraxia0TMEM67 CL E G H9114728396ORPHA:1454Joubert syndrome with hepatic defect166
HP:0002186HP:0002186Apraxia0TNR CL E G H714311953OMIM:619653NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO7
HP:0002186HP:0002186Apraxia0TOE1 CL E G H11403415954OMIM:614969Pontocerebellar hypoplasia, type 76
HP:0002186HP:0002186Apraxia0TOGARAM1 CL E G H2311619959ORPHA:475Joubert syndrome
HP:0002186HP:0002186Apraxia0TOGARAM1 CL E G H2311619959OMIM:619185JOUBERT SYNDROME 37; JBTS37
HP:0002186HP:0002186Apraxia0TOMM40 CL E G H1045218001ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040283 - Occasional
HP:0002186HP:0002186Apraxia0TPP1 CL E G H12002073ORPHA:284324Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia203
HP:0002186HP:0002186Apraxia0TRAPPC11 CL E G H6068425751OMIM:615356Muscular dystrophy, limb-girdle, autosomal recessive 1827
HP:0002186HP:0002186Apraxia0TREM2 CL E G H5420917761ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040283 - Occasional31
HP:0002186HP:0002186Apraxia0TREM2 CL E G H5420917761ORPHA:2770Nasu-Hakola disease31
HP:0002186HP:0002186Apraxia0TREM2 CL E G H5420917761OMIM:618193POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL231
HP:0002186HP:0002186Apraxia0TREM2 CL E G H5420917761ORPHA:100070Progressive non-fluent aphasiaHP:0040282 - Frequent31
HP:0002186HP:0002186Apraxia0TREX1 CL E G H1127712269OMIM:192315Vasculopathy, retinal, with cerebral leukodystrophy.56
HP:0002186HP:0002186Apraxia0TTC19 CL E G H5490226006OMIM:615157Mitochondrial complex III deficiency, nuclear type 2.88
HP:0002186HP:0002186Apraxia0TUBA1A CL E G H784620766ORPHA:467166Tubulinopathy-associated dysgyria106
HP:0002186HP:0002186Apraxia0TUBB2B CL E G H34773330829ORPHA:300573Polymicrogyria due to TUBB2B mutation39
HP:0002186HP:0002186Apraxia0TUBB2B CL E G H34773330829ORPHA:467166Tubulinopathy-associated dysgyria39
HP:0002186HP:0002186Apraxia0TUBB3 CL E G H1038120772ORPHA:300570Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation64
HP:0002186HP:0002186Apraxia0TUBB3 CL E G H1038120772ORPHA:467166Tubulinopathy-associated dysgyria64
HP:0002186HP:0002186Apraxia0TYROBP CL E G H730512449ORPHA:2770Nasu-Hakola disease22
HP:0002186HP:0002186Apraxia0TYROBP CL E G H730512449OMIM:221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy.22
HP:0002186HP:0002186Apraxia0UBE3A CL E G H733712496ORPHA:23844615q11q13 microduplication syndromeHP:0040282 - Frequent278
HP:0002186HP:0002186Apraxia0UFC1 CL E G H5150626941OMIM:618076Neurodevelopmental disorder with spasticity and poor growth
HP:0002186HP:0002186Apraxia0USP7 CL E G H787412630OMIM:616863Chromosome 16p13.2 deletion syndrome2
HP:0002186HP:0002186Apraxia0VCP CL E G H741512666ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040282 - Frequent63
HP:0002186HP:0002186Apraxia0VCP CL E G H741512666ORPHA:100070Progressive non-fluent aphasiaHP:0040282 - Frequent63
HP:0002186HP:0002186Apraxia0VPS11 CL E G H5582314583ORPHA:466934VPS11-related autosomal recessive hypomyelinating leukodystrophy1
HP:0002186HP:0002186Apraxia0XRCC1 CL E G H751512828OMIM:617633Spinocerebellar ataxia, autosomal recessive 264
HP:0002186HP:0002186Apraxia0XRCC4 CL E G H751812831OMIM:616541Short stature, microcephaly, and endocrine dysfunction9
HP:0002186HP:0002186Apraxia0ZC4H2 CL E G H5590624931ORPHA:3454Intellectual disability-developmental delay-contractures syndrome19
HP:0002186HP:0002186Apraxia0ZC4H2 CL E G H5590624931OMIM:314580Wieacker-Wolff syndrome.19
HP:0002186HP:0002186Apraxia0ZC4H2 CL E G H5590624931OMIM:301041WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR19
HP:0002186HP:0002186Apraxia0ZIC2 CL E G H754612873ORPHA:93925Alobar holoprosencephaly34
HP:0002186HP:0002186Apraxia0ZIC2 CL E G H754612873ORPHA:93924Lobar holoprosencephaly34
HP:0002186HP:0002186Apraxia0ZIC2 CL E G H754612873ORPHA:93926Midline interhemispheric variant of holoprosencephaly34
HP:0002186HP:0002186Apraxia0ZIC2 CL E G H754612873ORPHA:220386Semilobar holoprosencephaly34
HP:0002186HP:0000657Oculomotor apraxia1ABCA7 CL E G H1034737ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040283 - Occasional3
HP:0002186HP:0000657Oculomotor apraxia1ABCD1 CL E G H21561ORPHA:139396X-linked cerebral adrenoleukodystrophyHP:0040283 - Occasional135
HP:0002186HP:0007301Oromotor apraxia1ADGRG1 CL E G H92894512ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040283 - Occasional88
HP:0002186HP:0000657Oculomotor apraxia1AFG3L2 CL E G H10939315ORPHA:313772Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndromeHP:0040282 - Frequent86
HP:0002186HP:0000657Oculomotor apraxia1AFG3L2 CL E G H10939315OMIM:614487Spastic ataxia 5, autosomal recessive.86
HP:0002186HP:0000657Oculomotor apraxia1AHI1 CL E G H5480621575ORPHA:475Joubert syndromeHP:0040281 - Very frequent175
HP:0002186HP:0000657Oculomotor apraxia1AHI1 CL E G H5480621575OMIM:608629Joubert syndrome 3.175
HP:0002186HP:0000657Oculomotor apraxia1AHI1 CL E G H5480621575ORPHA:220493Joubert syndrome with ocular defectHP:0040281 - Very frequent175
HP:0002186HP:0000657Oculomotor apraxia1APP CL E G H351620ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040283 - Occasional74
HP:0002186HP:0000657Oculomotor apraxia1APTX CL E G H5484015984OMIM:208920Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia61
HP:0002186HP:0000657Oculomotor apraxia1ARL13B CL E G H20089425419ORPHA:475Joubert syndromeHP:0040281 - Very frequent62
HP:0002186HP:0000657Oculomotor apraxia1ARL13B CL E G H20089425419OMIM:612291JOUBERT SYNDROME 8; JBTS862
HP:0002186HP:0000657Oculomotor apraxia1ARL3 CL E G H403694ORPHA:475Joubert syndromeHP:0040281 - Very frequent1
HP:0002186HP:0000657Oculomotor apraxia1ARL3 CL E G H403694OMIM:618161JOUBERT SYNDROME 35; JBTS351
HP:0002186HP:0000657Oculomotor apraxia1ARMC9 CL E G H8021020730ORPHA:475Joubert syndromeHP:0040281 - Very frequent
HP:0002186HP:0000658Eyelid apraxia1ATP13A2 CL E G H2340030213ORPHA:306674Kufor-Rakeb syndromeHP:0040283 - Occasional100
HP:0002186HP:0000657Oculomotor apraxia1ATP1A2 CL E G H477800ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional239
HP:0002186HP:0000657Oculomotor apraxia1ATP1A3 CL E G H478801ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional150
HP:0002186HP:0000657Oculomotor apraxia1ATXN2 CL E G H631110555OMIM:183090Spinocerebellar ataxia 2.11
HP:0002186HP:0000657Oculomotor apraxia1B9D1 CL E G H2707724123ORPHA:475Joubert syndromeHP:0040281 - Very frequent28
HP:0002186HP:0000657Oculomotor apraxia1B9D1 CL E G H2707724123OMIM:617120Joubert syndrome 27.28
HP:0002186HP:0000657Oculomotor apraxia1B9D2 CL E G H8077628636ORPHA:475Joubert syndromeHP:0040281 - Very frequent34
HP:0002186HP:0000657Oculomotor apraxia1BCR CL E G H6131014ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040283 - Occasional5
HP:0002186HP:0000657Oculomotor apraxia1BLTP1 CL E G H8416226953OMIM:617822Alkuraya-Kucinskas syndrome.
HP:0002186HP:0000657Oculomotor apraxia1BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1.276
HP:0002186HP:0000657Oculomotor apraxia1CACNA1A CL E G H7731388ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional449
HP:0002186HP:0000657Oculomotor apraxia1CACNA1G CL E G H89131394OMIM:618087Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits.32
HP:0002186HP:0000657Oculomotor apraxia1CBY1 CL E G H257761307ORPHA:475Joubert syndromeHP:0040281 - Very frequent1
HP:0002186HP:0000657Oculomotor apraxia1CC2D2A CL E G H5754529253OMIM:619111COACH SYNDROME 2; COACH2247
HP:0002186HP:0000657Oculomotor apraxia1CC2D2A CL E G H5754529253OMIM:612285Joubert syndrome 9247
HP:0002186HP:0000657Oculomotor apraxia1CC2D2A CL E G H5754529253ORPHA:1454Joubert syndrome with hepatic defectHP:0040281 - Very frequent247
HP:0002186HP:0032588Hand apraxia1CDKL5 CL E G H679211411ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent405
HP:0002186HP:0007301Oromotor apraxia1CDON CL E G H5093717104ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent200
HP:0002186HP:0007301Oromotor apraxia1CDON CL E G H5093717104ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional200
HP:0002186HP:0007301Oromotor apraxia1CDON CL E G H5093717104ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent200
HP:0002186HP:0007301Oromotor apraxia1CDON CL E G H5093717104ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent200
HP:0002186HP:0000657Oculomotor apraxia1CEP104 CL E G H973124866ORPHA:475Joubert syndromeHP:0040281 - Very frequent5
HP:0002186HP:0000657Oculomotor apraxia1CEP104 CL E G H973124866OMIM:616781Joubert syndrome 255
HP:0002186HP:0000657Oculomotor apraxia1CEP120 CL E G H15324126690ORPHA:475Joubert syndromeHP:0040281 - Very frequent7
HP:0002186HP:0000657Oculomotor apraxia1CEP120 CL E G H15324126690OMIM:617761Joubert syndrome 31.7
HP:0002186HP:0000657Oculomotor apraxia1CEP120 CL E G H15324126690ORPHA:220493Joubert syndrome with ocular defectHP:0040281 - Very frequent7
HP:0002186HP:0000657Oculomotor apraxia1CEP290 CL E G H8018429021OMIM:610188Joubert syndrome 5.342
HP:0002186HP:0000657Oculomotor apraxia1CEP41 CL E G H9568112370ORPHA:475Joubert syndromeHP:0040281 - Very frequent90
HP:0002186HP:0000657Oculomotor apraxia1CEP41 CL E G H9568112370OMIM:614464Joubert syndrome 15HP:0040282 - Frequent90
HP:0002186HP:0000657Oculomotor apraxia1CEP41 CL E G H9568112370ORPHA:220493Joubert syndrome with ocular defectHP:0040281 - Very frequent90
HP:0002186HP:0011098Speech apraxia1CHD1 CL E G H11051915ORPHA:529965Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndromeHP:0040282 - Frequent2
HP:0002186HP:0011098Speech apraxia1CHD1 CL E G H11051915OMIM:617682Pilarowski-Bjornsson syndrome.2
HP:0002186HP:0011098Speech apraxia1CHD3 CL E G H11071918OMIM:618205Snijders blok-campeau syndrome.2
HP:0002186HP:0007301Oromotor apraxia1CLTC CL E G H12132092OMIM:617854Mental retardation, autosomal dominant 561
HP:0002186HP:0000657Oculomotor apraxia1CPLANE1 CL E G H6525025801ORPHA:475Joubert syndromeHP:0040281 - Very frequent
HP:0002186HP:0000657Oculomotor apraxia1CPLANE1 CL E G H6525025801OMIM:614615Joubert syndrome 17.
HP:0002186HP:0000657Oculomotor apraxia1CRKL CL E G H13992363ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040283 - Occasional
HP:0002186HP:0000657Oculomotor apraxia1CSPP1 CL E G H7984826193ORPHA:475Joubert syndromeHP:0040281 - Very frequent57
HP:0002186HP:0000657Oculomotor apraxia1CSPP1 CL E G H7984826193OMIM:615636Joubert syndrome 21.57
HP:0002186HP:0000657Oculomotor apraxia1CSPP1 CL E G H7984826193ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophyHP:0040282 - Frequent57
HP:0002186HP:0000657Oculomotor apraxia1CWF19L1 CL E G H5528025613ORPHA:453521Autosomal recessive cerebellar ataxia due to CWF19L1 deficiencyHP:0040282 - Frequent9
HP:0002186HP:0000657Oculomotor apraxia1CWF19L1 CL E G H5528025613OMIM:616127Spinocerebellar ataxia, autosomal recessive 179
HP:0002186HP:0007301Oromotor apraxia1DDOST CL E G H16502728ORPHA:300536DDOST-CDGHP:0040281 - Very frequent62
HP:0002186HP:0007301Oromotor apraxia1DISP1 CL E G H8497619711ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent22
HP:0002186HP:0007301Oromotor apraxia1DISP1 CL E G H8497619711ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional22
HP:0002186HP:0007301Oromotor apraxia1DISP1 CL E G H8497619711ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent22
HP:0002186HP:0007301Oromotor apraxia1DISP1 CL E G H8497619711ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent22
HP:0002186HP:0011098Speech apraxia1DLAT CL E G H17372896ORPHA:79244Pyruvate dehydrogenase E2 deficiencyHP:0040283 - Occasional82
HP:0002186HP:0000657Oculomotor apraxia1DLAT CL E G H17372896OMIM:245348Pyruvate dehydrogenase E2 deficiency.82
HP:0002186HP:0007301Oromotor apraxia1DLL1 CL E G H285142908ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent3
HP:0002186HP:0007301Oromotor apraxia1DLL1 CL E G H285142908ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional3
HP:0002186HP:0007301Oromotor apraxia1DLL1 CL E G H285142908ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent3
HP:0002186HP:0007301Oromotor apraxia1DLL1 CL E G H285142908ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent3
HP:0002186HP:0011098Speech apraxia1DMPK CL E G H17602933ORPHA:589821Congenital-onset Steinert myotonic dystrophy152
HP:0002186HP:0000657Oculomotor apraxia1DNM1L CL E G H100592973OMIM:614388Encephalopathy due to defective mitochondrial and peroxisomal fission 1.94
HP:0002186HP:0011098Speech apraxia1EBF3 CL E G H25373819087OMIM:617330HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS25
HP:0002186HP:0000657Oculomotor apraxia1EXOSC3 CL E G H5101017944OMIM:614678Pontocerebellar hypoplasia, type 1B.38
HP:0002186HP:0000657Oculomotor apraxia1FA2H CL E G H7915221197ORPHA:171629Autosomal recessive spastic paraplegia type 35HP:0040282 - Frequent76
HP:0002186HP:0007301Oromotor apraxia1FGF8 CL E G H22533686ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent17
HP:0002186HP:0007301Oromotor apraxia1FGF8 CL E G H22533686ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional17
HP:0002186HP:0007301Oromotor apraxia1FGF8 CL E G H22533686ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent17
HP:0002186HP:0007301Oromotor apraxia1FGF8 CL E G H22533686ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent17
HP:0002186HP:0007301Oromotor apraxia1FGFR1 CL E G H22603688ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional172
HP:0002186HP:0007301Oromotor apraxia1FGFR1 CL E G H22603688ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent172
HP:0002186HP:0007301Oromotor apraxia1FOXH1 CL E G H89283814ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent48
HP:0002186HP:0007301Oromotor apraxia1FOXH1 CL E G H89283814ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional48
HP:0002186HP:0007301Oromotor apraxia1FOXH1 CL E G H89283814ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent48
HP:0002186HP:0007301Oromotor apraxia1FOXH1 CL E G H89283814ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent48
HP:0002186HP:0007301Oromotor apraxia1FOXP1 CL E G H270863823ORPHA:391372Intellectual disability-severe speech delay-mild dysmorphism syndromeHP:0040282 - Frequent184
HP:0002186HP:0011098Speech apraxia1FOXP1 CL E G H270863823OMIM:613670Mental retardation with language impairment and with or without autistic features184
HP:0002186HP:0011098Speech apraxia1FOXP2 CL E G H9398613875ORPHA:209908Childhood apraxia of speechHP:0040282 - Frequent143
HP:0002186HP:0007301Oromotor apraxia1FOXP2 CL E G H9398613875OMIM:602081Speech-language disorder-1.143
HP:0002186HP:0011098Speech apraxia1FRRS1L CL E G H237321362ORPHA:725Continuous spikes and waves during sleepHP:0040283 - Occasional4
HP:0002186HP:0032588Hand apraxia1GABBR2 CL E G H95684507ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent5
HP:0002186HP:0011098Speech apraxia1GALK1 CL E G H25844118ORPHA:79237Galactokinase deficiencyHP:0040283 - Occasional23
HP:0002186HP:0011098Speech apraxia1GALT CL E G H25924135ORPHA:79239Classic galactosemiaHP:0040283 - Occasional351
HP:0002186HP:0007301Oromotor apraxia1GAS1 CL E G H26194165ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent2
HP:0002186HP:0007301Oromotor apraxia1GAS1 CL E G H26194165ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional2
HP:0002186HP:0007301Oromotor apraxia1GAS1 CL E G H26194165ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent2
HP:0002186HP:0007301Oromotor apraxia1GAS1 CL E G H26194165ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent2
HP:0002186HP:0000657Oculomotor apraxia1GBA1 CL E G H26294177OMIM:230900Gaucher disease, type II.
HP:0002186HP:0000657Oculomotor apraxia1GBA1 CL E G H26294177ORPHA:2072Gaucher disease-ophthalmoplegia-cardiovascular calcification syndromeHP:0040283 - Occasional
HP:0002186HP:0007301Oromotor apraxia1GLI2 CL E G H27364318ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent173
HP:0002186HP:0007301Oromotor apraxia1GLI2 CL E G H27364318ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional173
HP:0002186HP:0007301Oromotor apraxia1GLI2 CL E G H27364318ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent173
HP:0002186HP:0007301Oromotor apraxia1GLI2 CL E G H27364318ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent173
HP:0002186HP:0000657Oculomotor apraxia1GPAA1 CL E G H87334446ORPHA:529665Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndromeHP:0040282 - Frequent
HP:0002186HP:0000657Oculomotor apraxia1GRID2 CL E G H28954576OMIM:616204SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR1818
HP:0002186HP:0011098Speech apraxia1GRIN2A CL E G H29034585ORPHA:725Continuous spikes and waves during sleepHP:0040283 - Occasional434
HP:0002186HP:0011098Speech apraxia1GRIN2A CL E G H29034585OMIM:245570EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD434
HP:0002186HP:0011098Speech apraxia1GRIN2A CL E G H29034585ORPHA:98818Landau-Kleffner syndromeHP:0040281 - Very frequent434
HP:0002186HP:0011098Speech apraxia1GRIN2A CL E G H29034585ORPHA:163721Rolandic epilepsy-speech dyspraxia syndromeHP:0040281 - Very frequent434
HP:0002186HP:0000657Oculomotor apraxia1H4C11 CL E G H83634785OMIM:619759TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEVANED2
HP:0002186HP:0010521Gait apraxia1HTRA1 CL E G H56549476OMIM:600142Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)34
HP:0002186HP:0000657Oculomotor apraxia1HYLS1 CL E G H21984426558ORPHA:475Joubert syndromeHP:0040281 - Very frequent31
HP:0002186HP:0000657Oculomotor apraxia1IFT172 CL E G H2616030391OMIM:615630Short-Rib thoracic dysplasia 10 with or without polydactylyHP:0040283 - Occasional48
HP:0002186HP:0000657Oculomotor apraxia1IFT74 CL E G H8017321424OMIM:619582JOUBERT SYNDROME 40; JBTS403
HP:0002186HP:0000657Oculomotor apraxia1INPP5E CL E G H5662321474ORPHA:475Joubert syndromeHP:0040281 - Very frequent111
HP:0002186HP:0000657Oculomotor apraxia1INPP5E CL E G H5662321474OMIM:213300Joubert syndrome 1111
HP:0002186HP:0000657Oculomotor apraxia1INPP5E CL E G H5662321474ORPHA:1454Joubert syndrome with hepatic defectHP:0040281 - Very frequent111
HP:0002186HP:0000657Oculomotor apraxia1INPP5E CL E G H5662321474ORPHA:220493Joubert syndrome with ocular defectHP:0040281 - Very frequent111
HP:0002186HP:0000657Oculomotor apraxia1ITPR1 CL E G H37086180ORPHA:208513Spinocerebellar ataxia type 29HP:0040282 - Frequent177
HP:0002186HP:0011098Speech apraxia1KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndromeHP:0040283 - Occasional283
HP:0002186HP:0011098Speech apraxia1KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutationHP:0040283 - Occasional283
HP:0002186HP:0000657Oculomotor apraxia1KATNIP CL E G H2324729068ORPHA:475Joubert syndromeHP:0040281 - Very frequent
HP:0002186HP:0000657Oculomotor apraxia1KCNH1 CL E G H37566250OMIM:135500Zimmermann-Laband syndrome 113
HP:0002186HP:0000657Oculomotor apraxia1KDM1A CL E G H2302829079OMIM:616728Cleft palate, psychomotor retardation, and distinctive facial features3
HP:0002186HP:0000657Oculomotor apraxia1KDM1A CL E G H2302829079ORPHA:477993Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndromeHP:0040283 - Occasional3
HP:0002186HP:0011098Speech apraxia1KDM6B CL E G H2313529012OMIM:618505Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities.9
HP:0002186HP:0000657Oculomotor apraxia1KIAA0586 CL E G H978619960ORPHA:475Joubert syndromeHP:0040281 - Very frequent24
HP:0002186HP:0000657Oculomotor apraxia1KIAA0586 CL E G H978619960ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophyHP:0040282 - Frequent24
HP:0002186HP:0000657Oculomotor apraxia1KIAA0753 CL E G H985129110OMIM:619476JOUBERT SYNDROME 38; JBTS384
HP:0002186HP:0000657Oculomotor apraxia1LAMA1 CL E G H2842176481ORPHA:370022Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndromeHP:0040282 - Frequent35
HP:0002186HP:0000657Oculomotor apraxia1LAMA1 CL E G H2842176481OMIM:615960Poretti-Boltshauser syndrome.35
HP:0002186HP:0000657Oculomotor apraxia1MAPK1 CL E G H55946871ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040283 - Occasional2
HP:0002186HP:0030217Limb apraxia1MAPT CL E G H41376893ORPHA:240103Progressive supranuclear palsy-corticobasal syndromeHP:0040281 - Very frequent140
HP:0002186HP:0030217Limb apraxia1MAPT CL E G H41376893ORPHA:240112Progressive supranuclear palsy-progressive non-fluent aphasia syndromeHP:0040283 - Occasional140
HP:0002186HP:0011098Speech apraxia1MAPT CL E G H41376893ORPHA:240112Progressive supranuclear palsy-progressive non-fluent aphasia syndromeHP:0040281 - Very frequent140
HP:0002186HP:0000657Oculomotor apraxia1MAPT CL E G H41376893ORPHA:240094Progressive supranuclear palsy-pure akinesia with gait freezing syndromeHP:0040284 - Very rare140
HP:0002186HP:0000658Eyelid apraxia1MAPT CL E G H41376893OMIM:601104Supranuclear palsy, progressive, 1.140
HP:0002186HP:0000657Oculomotor apraxia1MAST1 CL E G H2298319034OMIM:618273Mega-Corpus-Callosum syndrome with cerebellar hypoplasia and cortical malformationsHP:0040284 - Very rare1
HP:0002186HP:0032588Hand apraxia1MECP2 CL E G H42046990ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent950
HP:0002186HP:0030217Limb apraxia1MECP2 CL E G H42046990ORPHA:778Rett syndromeHP:0040282 - Frequent950
HP:0002186HP:0010521Gait apraxia1MECP2 CL E G H42046990OMIM:312750Rett syndrome.950
HP:0002186HP:0011098Speech apraxia1MED13 CL E G H996922474OMIM:618009INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD614
HP:0002186HP:0000657Oculomotor apraxia1MKS1 CL E G H549037121ORPHA:475Joubert syndromeHP:0040281 - Very frequent127
HP:0002186HP:0000657Oculomotor apraxia1MKS1 CL E G H549037121OMIM:617121JOUBERT SYNDROME 28; JBTS28127
HP:0002186HP:0000657Oculomotor apraxia1MKS1 CL E G H549037121ORPHA:220493Joubert syndrome with ocular defectHP:0040281 - Very frequent127
HP:0002186HP:0000657Oculomotor apraxia1MRE11 CL E G H43617230ORPHA:251347Ataxia-telangiectasia-like disorderHP:0040282 - Frequent532
HP:0002186HP:0000657Oculomotor apraxia1MRE11 CL E G H43617230OMIM:604391Ataxia-Telangiectasia-Like disorder 1.532
HP:0002186HP:0000657Oculomotor apraxia1MYO9A CL E G H46497608OMIM:618198Myasthenic syndrome, congenital, 24, presynaptic.
HP:0002186HP:0000657Oculomotor apraxia1NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndromeHP:0040283 - Occasional32
HP:0002186HP:0007301Oromotor apraxia1NODAL CL E G H48387865ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent45
HP:0002186HP:0007301Oromotor apraxia1NODAL CL E G H48387865ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional45
HP:0002186HP:0007301Oromotor apraxia1NODAL CL E G H48387865ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent45
HP:0002186HP:0007301Oromotor apraxia1NODAL CL E G H48387865ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent45
HP:0002186HP:0011098Speech apraxia1NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndromeHP:0040283 - Occasional10
HP:0002186HP:0011098Speech apraxia1NONO CL E G H48417871OMIM:300967MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS3410
HP:0002186HP:0000657Oculomotor apraxia1NPHP1 CL E G H48677905OMIM:609583Joubert syndrome 4.85
HP:0002186HP:0000657Oculomotor apraxia1NPHP1 CL E G H48677905ORPHA:220497Joubert syndrome with renal defectHP:0040281 - Very frequent85
HP:0002186HP:0032588Hand apraxia1NTNG1 CL E G H2285423319ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent1
HP:0002186HP:0011098Speech apraxia1PACS1 CL E G H5569030032OMIM:615009Schuurs-Hoeijmakers syndrome24
HP:0002186HP:0000658Eyelid apraxia1PANK2 CL E G H8002515894OMIM:234200Neurodegeneration with brain iron accumulation 1.55
HP:0002186HP:0000657Oculomotor apraxia1PDE6D CL E G H51478788OMIM:615665Joubert syndrome 221
HP:0002186HP:0000657Oculomotor apraxia1PEX2 CL E G H58289717OMIM:614867Peroxisome biogenesis disorder 5B.82
HP:0002186HP:0000657Oculomotor apraxia1PGAP2 CL E G H2731517893ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional8
HP:0002186HP:0000657Oculomotor apraxia1PGAP3 CL E G H9321023719ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional20
HP:0002186HP:0007301Oromotor apraxia1PI4KA CL E G H52978983ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040283 - Occasional11
HP:0002186HP:0000657Oculomotor apraxia1PIBF1 CL E G H1046423352ORPHA:475Joubert syndromeHP:0040281 - Very frequent4
HP:0002186HP:0000657Oculomotor apraxia1PIBF1 CL E G H1046423352OMIM:617767Joubert syndrome 33.4
HP:0002186HP:0000657Oculomotor apraxia1PIGL CL E G H94878966ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional36
HP:0002186HP:0000657Oculomotor apraxia1PIGO CL E G H8472023215ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional84
HP:0002186HP:0000657Oculomotor apraxia1PIGV CL E G H5565026031ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional57
HP:0002186HP:0000657Oculomotor apraxia1PIGW CL E G H28409823213ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional6
HP:0002186HP:0000657Oculomotor apraxia1PIGY CL E G H8499228213ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional2
HP:0002186HP:0000657Oculomotor apraxia1PIK3R5 CL E G H2353330035OMIM:615217Ataxia-Oculomotor apraxia 3.11
HP:0002186HP:0000657Oculomotor apraxia1PIK3R5 CL E G H2353330035ORPHA:64753Spinocerebellar ataxia with axonal neuropathy type 2HP:0040282 - Frequent11
HP:0002186HP:0000658Eyelid apraxia1PLA2G6 CL E G H83989039ORPHA:199351Adult-onset dystonia-parkinsonismHP:0040282 - Frequent133
HP:0002186HP:0000658Eyelid apraxia1PLA2G6 CL E G H83989039OMIM:612953Parkinson disease 14, autosomal recessive133
HP:0002186HP:0007301Oromotor apraxia1PLCH1 CL E G H2300729185ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent
HP:0002186HP:0032588Hand apraxia1PLP1 CL E G H53549086ORPHA:280229Pelizaeus-Merzbacher disease in female carriersHP:0040283 - Occasional60
HP:0002186HP:0000657Oculomotor apraxia1PMPCA CL E G H2320318667ORPHA:1170Autosomal recessive cerebelloparenchymal disorder type 3HP:0040282 - Frequent7
HP:0002186HP:0000657Oculomotor apraxia1PNKP CL E G H112849154OMIM:616267Ataxia-Oculomotor apraxia 4.244
HP:0002186HP:0000657Oculomotor apraxia1PNKP CL E G H112849154ORPHA:459033Ataxia-oculomotor apraxia type 4HP:0040282 - Frequent244
HP:0002186HP:0000657Oculomotor apraxia1PNPT1 CL E G H8717823166OMIM:608703Spinocerebellar ataxia 2560
HP:0002186HP:0011098Speech apraxia1POU4F1 CL E G H54579218OMIM:619352ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET; ATITHS
HP:0002186HP:0011098Speech apraxia1PRKAR1B CL E G H55759390OMIM:619680MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS2
HP:0002186HP:0000657Oculomotor apraxia1PSEN1 CL E G H56639508ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040283 - Occasional241
HP:0002186HP:0000657Oculomotor apraxia1PSEN2 CL E G H56649509ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040283 - Occasional59
HP:0002186HP:0007301Oromotor apraxia1PTCH1 CL E G H57279585ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent665
HP:0002186HP:0007301Oromotor apraxia1PTCH1 CL E G H57279585ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional665
HP:0002186HP:0007301Oromotor apraxia1PTCH1 CL E G H57279585ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent665
HP:0002186HP:0007301Oromotor apraxia1PTCH1 CL E G H57279585ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent665
HP:0002186HP:0011098Speech apraxia1PURA CL E G H58139701ORPHA:314655Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletionHP:0040283 - Occasional53
HP:0002186HP:0011098Speech apraxia1RAI1 CL E G H107439834ORPHA:171317p11.2 microduplication syndromeHP:0040282 - Frequent150
HP:0002186HP:0011098Speech apraxia1RNF135 CL E G H8428221158ORPHA:137634Overgrowth-macrocephaly-facial dysmorphism syndromeHP:0040283 - Occasional11
HP:0002186HP:0000657Oculomotor apraxia1RORA CL E G H609510258OMIM:618060INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA1
HP:0002186HP:0000657Oculomotor apraxia1RPGRIP1L CL E G H2332229168OMIM:619113COACH SYNDROME 3; COACH3167
HP:0002186HP:0000657Oculomotor apraxia1RPGRIP1L CL E G H2332229168OMIM:611560Joubert syndrome 7.167
HP:0002186HP:0000657Oculomotor apraxia1RPGRIP1L CL E G H2332229168ORPHA:1454Joubert syndrome with hepatic defectHP:0040281 - Very frequent167
HP:0002186HP:0000657Oculomotor apraxia1RPGRIP1L CL E G H2332229168ORPHA:220497Joubert syndrome with renal defectHP:0040281 - Very frequent167
HP:0002186HP:0000657Oculomotor apraxia1SETX CL E G H23064445ORPHA:64753Spinocerebellar ataxia with axonal neuropathy type 2HP:0040282 - Frequent162
HP:0002186HP:0000657Oculomotor apraxia1SETX CL E G H23064445OMIM:606002Spinocerebellar ataxia, autosomal recessive 1162
HP:0002186HP:0011098Speech apraxia1SH2B1 CL E G H2597030417ORPHA:261197Proximal 16p11.2 microdeletion syndromeHP:0040283 - Occasional
HP:0002186HP:0007301Oromotor apraxia1SHH CL E G H646910848ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent67
HP:0002186HP:0007301Oromotor apraxia1SHH CL E G H646910848ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional67
HP:0002186HP:0007301Oromotor apraxia1SHH CL E G H646910848ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent67
HP:0002186HP:0007301Oromotor apraxia1SHH CL E G H646910848ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent67
HP:0002186HP:0007301Oromotor apraxia1SIX3 CL E G H649610889ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent32
HP:0002186HP:0007301Oromotor apraxia1SIX3 CL E G H649610889ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional32
HP:0002186HP:0007301Oromotor apraxia1SIX3 CL E G H649610889ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent32
HP:0002186HP:0007301Oromotor apraxia1SIX3 CL E G H649610889ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent32
HP:0002186HP:0000657Oculomotor apraxia1SLC1A3 CL E G H650710941ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional63
HP:0002186HP:0011098Speech apraxia1SLC25A15 CL E G H1016610985ORPHA:415Hyperornithinemia-hyperammonemia-homocitrullinuria syndromeHP:0040282 - Frequent88
HP:0002186HP:0000657Oculomotor apraxia1SLC30A9 CL E G H104631329OMIM:617595Birk-Landau-Perez syndrome.1
HP:0002186HP:0011098Speech apraxia1SLC6A8 CL E G H653511055OMIM:300352Creatine deficiency syndrome, X-linked122
HP:0002186HP:0032588Hand apraxia1SMC1A CL E G H824311111ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent135
HP:0002186HP:0007301Oromotor apraxia1SMC1A CL E G H824311111ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent135
HP:0002186HP:0000657Oculomotor apraxia1SORL1 CL E G H665311185ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040283 - Occasional3
HP:0002186HP:0000657Oculomotor apraxia1SOX3 CL E G H665811199ORPHA:67045X-linked intellectual disability with isolated growth hormone deficiencyHP:0040283 - Occasional24
HP:0002186HP:0011098Speech apraxia1SPART CL E G H2311118514ORPHA:101000Autosomal recessive spastic paraplegia type 20HP:0040283 - Occasional66
HP:0002186HP:0000657Oculomotor apraxia1SPR CL E G H669711257OMIM:612716Dystonia, dopa-responsive, due to sepiapterin reductase deficiency.28
HP:0002186HP:0000657Oculomotor apraxia1SQSTM1 CL E G H887811280OMIM:617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset.62
HP:0002186HP:0011098Speech apraxia1SRCAP CL E G H1084716974ORPHA:2044Floating-Harbor syndromeHP:0040281 - Very frequent138
HP:0002186HP:0007301Oromotor apraxia1SRPX2 CL E G H2728630668ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040283 - Occasional50
HP:0002186HP:0011098Speech apraxia1SRPX2 CL E G H2728630668OMIM:300643Rolandic epilepsy, mental retardation, and speech dyspraxia.50
HP:0002186HP:0011098Speech apraxia1SRPX2 CL E G H2728630668ORPHA:163721Rolandic epilepsy-speech dyspraxia syndromeHP:0040281 - Very frequent50
HP:0002186HP:0007301Oromotor apraxia1STAG2 CL E G H1073511355ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent1
HP:0002186HP:0007301Oromotor apraxia1STAG2 CL E G H1073511355ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent1
HP:0002186HP:0007301Oromotor apraxia1STIL CL E G H649110879ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent99
HP:0002186HP:0007301Oromotor apraxia1STIL CL E G H649110879ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional99
HP:0002186HP:0007301Oromotor apraxia1STIL CL E G H649110879ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent99
HP:0002186HP:0007301Oromotor apraxia1STIL CL E G H649110879ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent99
HP:0002186HP:0000657Oculomotor apraxia1STUB1 CL E G H1027311427ORPHA:412057Autosomal recessive cerebellar ataxia due to STUB1 deficiencyHP:0040284 - Very rare14
HP:0002186HP:0011098Speech apraxia1STUB1 CL E G H1027311427ORPHA:412057Autosomal recessive cerebellar ataxia due to STUB1 deficiencyHP:0040283 - Occasional14
HP:0002186HP:0000657Oculomotor apraxia1SUFU CL E G H5168416466ORPHA:475Joubert syndromeHP:0040281 - Very frequent124
HP:0002186HP:0000657Oculomotor apraxia1SUFU CL E G H5168416466OMIM:617757Joubert syndrome 32.124
HP:0002186HP:0000658Eyelid apraxia1SYNJ1 CL E G H886711503OMIM:615530Parkinson disease 20, early-onset.9
HP:0002186HP:0000657Oculomotor apraxia1TCTN1 CL E G H7960026113ORPHA:475Joubert syndromeHP:0040281 - Very frequent45
HP:0002186HP:0000657Oculomotor apraxia1TCTN2 CL E G H7986725774ORPHA:475Joubert syndromeHP:0040281 - Very frequent76
HP:0002186HP:0007301Oromotor apraxia1TDGF1 CL E G H699711701ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent1
HP:0002186HP:0007301Oromotor apraxia1TDGF1 CL E G H699711701ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional1
HP:0002186HP:0007301Oromotor apraxia1TDGF1 CL E G H699711701ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent1
HP:0002186HP:0007301Oromotor apraxia1TDGF1 CL E G H699711701ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent1
HP:0002186HP:0007301Oromotor apraxia1TGIF1 CL E G H705011776ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent32
HP:0002186HP:0007301Oromotor apraxia1TGIF1 CL E G H705011776ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional32
HP:0002186HP:0007301Oromotor apraxia1TGIF1 CL E G H705011776ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent32
HP:0002186HP:0007301Oromotor apraxia1TGIF1 CL E G H705011776ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent32
HP:0002186HP:0000657Oculomotor apraxia1TMEM107 CL E G H8431428128OMIM:617562Meckel syndrome 13.4
HP:0002186HP:0000657Oculomotor apraxia1TMEM107 CL E G H8431428128OMIM:617563Orofaciodigital syndrome XVI.4
HP:0002186HP:0000657Oculomotor apraxia1TMEM138 CL E G H5152426944OMIM:614465JOUBERT SYNDROME 16; JBTS1639
HP:0002186HP:0000657Oculomotor apraxia1TMEM216 CL E G H5125925018OMIM:608091Joubert syndrome 2.45
HP:0002186HP:0000657Oculomotor apraxia1TMEM218 CL E G H21985427344ORPHA:475Joubert syndromeHP:0040281 - Very frequent
HP:0002186HP:0000657Oculomotor apraxia1TMEM218 CL E G H21985427344OMIM:619562JOUBERT SYNDROME 39; JBTS39
HP:0002186HP:0000657Oculomotor apraxia1TMEM231 CL E G H7958337234OMIM:614970Joubert syndrome 20HP:0040280 - Obligate33
HP:0002186HP:0000657Oculomotor apraxia1TMEM231 CL E G H7958337234ORPHA:2752Orofaciodigital syndrome type 3HP:0040282 - Frequent33
HP:0002186HP:0000657Oculomotor apraxia1TMEM237 CL E G H6506214432ORPHA:475Joubert syndromeHP:0040281 - Very frequent82
HP:0002186HP:0000657Oculomotor apraxia1TMEM237 CL E G H6506214432ORPHA:220497Joubert syndrome with renal defectHP:0040281 - Very frequent82
HP:0002186HP:0000657Oculomotor apraxia1TMEM67 CL E G H9114728396OMIM:216360Coach syndrome 1166
HP:0002186HP:0000657Oculomotor apraxia1TMEM67 CL E G H9114728396ORPHA:475Joubert syndromeHP:0040281 - Very frequent166
HP:0002186HP:0000657Oculomotor apraxia1TMEM67 CL E G H9114728396OMIM:610688Joubert syndrome 6.166
HP:0002186HP:0000657Oculomotor apraxia1TMEM67 CL E G H9114728396ORPHA:1454Joubert syndrome with hepatic defectHP:0040281 - Very frequent166
HP:0002186HP:0000657Oculomotor apraxia1TOE1 CL E G H11403415954OMIM:614969Pontocerebellar hypoplasia, type 7.6
HP:0002186HP:0000657Oculomotor apraxia1TOGARAM1 CL E G H2311619959ORPHA:475Joubert syndromeHP:0040281 - Very frequent
HP:0002186HP:0000657Oculomotor apraxia1TOGARAM1 CL E G H2311619959OMIM:619185JOUBERT SYNDROME 37; JBTS37
HP:0002186HP:0000657Oculomotor apraxia1TOMM40 CL E G H1045218001ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040283 - Occasional
HP:0002186HP:0000657Oculomotor apraxia1TPP1 CL E G H12002073ORPHA:284324Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxiaHP:0040282 - Frequent203
HP:0002186HP:0011098Speech apraxia1TRAPPC11 CL E G H6068425751OMIM:615356Muscular dystrophy, limb-girdle, autosomal recessive 18.27
HP:0002186HP:0000657Oculomotor apraxia1TREM2 CL E G H5420917761ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040283 - Occasional31
HP:0002186HP:0000657Oculomotor apraxia1TREM2 CL E G H5420917761ORPHA:2770Nasu-Hakola diseaseHP:0040282 - Frequent31
HP:0002186HP:0000657Oculomotor apraxia1TUBA1A CL E G H784620766ORPHA:467166Tubulinopathy-associated dysgyria106
HP:0002186HP:0007301Oromotor apraxia1TUBB2B CL E G H34773330829ORPHA:300573Polymicrogyria due to TUBB2B mutationHP:0040283 - Occasional39
HP:0002186HP:0000657Oculomotor apraxia1TUBB2B CL E G H34773330829ORPHA:467166Tubulinopathy-associated dysgyria39
HP:0002186HP:0000657Oculomotor apraxia1TUBB3 CL E G H1038120772ORPHA:300570Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutationHP:0040283 - Occasional64
HP:0002186HP:0000657Oculomotor apraxia1TUBB3 CL E G H1038120772ORPHA:467166Tubulinopathy-associated dysgyria64
HP:0002186HP:0000657Oculomotor apraxia1TYROBP CL E G H730512449ORPHA:2770Nasu-Hakola diseaseHP:0040282 - Frequent22
HP:0002186HP:0000657Oculomotor apraxia1UFC1 CL E G H5150626941OMIM:618076Neurodevelopmental disorder with spasticity and poor growth.
HP:0002186HP:0011098Speech apraxia1USP7 CL E G H787412630OMIM:616863Chromosome 16p13.2 deletion syndrome.2
HP:0002186HP:0007301Oromotor apraxia1VPS11 CL E G H5582314583ORPHA:466934VPS11-related autosomal recessive hypomyelinating leukodystrophyHP:0040282 - Frequent1
HP:0002186HP:0000657Oculomotor apraxia1XRCC1 CL E G H751512828OMIM:617633Spinocerebellar ataxia, autosomal recessive 26.4
HP:0002186HP:0000657Oculomotor apraxia1ZC4H2 CL E G H5590624931ORPHA:3454Intellectual disability-developmental delay-contractures syndromeHP:0040281 - Very frequent19
HP:0002186HP:0000657Oculomotor apraxia1ZC4H2 CL E G H5590624931OMIM:314580Wieacker-Wolff syndromeHP:0040283 - Occasional19
HP:0002186HP:0000657Oculomotor apraxia1ZC4H2 CL E G H5590624931OMIM:301041WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR19
HP:0002186HP:0007301Oromotor apraxia1ZIC2 CL E G H754612873ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent34
HP:0002186HP:0007301Oromotor apraxia1ZIC2 CL E G H754612873ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional34
HP:0002186HP:0007301Oromotor apraxia1ZIC2 CL E G H754612873ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent34
HP:0002186HP:0007301Oromotor apraxia1ZIC2 CL E G H754612873ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent34


Genes (202) :AARS2 ABCA7 ABCC8 ABCD1 ADGRG1 AFG3L2 AHI1 APOE APP APTX ARL13B ARL3 ARMC9 ARPC4 ATP13A2 ATP1A2 ATP1A3 ATP6AP2 ATXN2 B9D1 B9D2 BCR BLTP1 BRAF C9ORF72 CACNA1A CACNA1G CBY1 CC2D2A CDKL5 CDON CEP104 CEP120 CEP290 CEP41 CHCHD10 CHD1 CHD3 CHMP2B CLTC CPLANE1 CRKL CSF1R CSPP1 CWF19L1 DDOST DISP1 DLAT DLL1 DMPK DNM1L EBF3 EPM2A EXOSC3 FA2H FGF8 FGFR1 FOXG1 FOXH1 FOXP1 FOXP2 FRRS1L FUS GABBR2 GALK1 GALT GAS1 GBA1 GCK GLI2 GPAA1 GRID2 GRIN2A GRN H4C11 HTRA1 HYLS1 IFT172 IFT74 INPP5E INS ITPR1 KANSL1 KATNIP KCNH1 KCNJ11 KDM1A KDM6B KIAA0586 KIAA0753 LAMA1 MAPK1 MAPT MAST1 MECP2 MED13 MKS1 MRE11 MYO9A NGLY1 NHLRC1 NKX2-1 NODAL NONO NPHP1 NTNG1 PACS1 PANK2 PDE6D PDX1 PEX2 PGAP2 PGAP3 PI4KA PIBF1 PIGL PIGO PIGV PIGW PIGY PIK3R5 PLA2G6 PLCH1 PLP1 PMPCA PNKP PNPT1 POU4F1 PRKAR1B PRNP PSEN1 PSEN2 PTCH1 PURA RAI1 RNF135 RORA RPGRIP1L SETX SH2B1 SHH SIX3 SLC1A3 SLC25A15 SLC2A1 SLC30A9 SLC6A8 SMC1A SMPD1 SNX14 SORL1 SOX3 SPART SPG21 SPR SQSTM1 SRCAP SRPX2 STAG2 STAT3 STIL STUB1 SUFU SYNJ1 TARDBP TBK1 TBP TCTN1 TCTN2 TDGF1 TGIF1 TIMM8A TMEM106B TMEM107 TMEM138 TMEM216 TMEM218 TMEM231 TMEM237 TMEM67 TNR TOE1 TOGARAM1 TOMM40 TPP1 TRAPPC11 TREM2 TREX1 TTC19 TUBA1A TUBB2B TUBB3 TYROBP UBE3A UFC1 USP7 VCP VPS11 XRCC1 XRCC4 ZC4H2 ZIC2

Diseases (189) :OMIM:615889 ORPHA:1020 ORPHA:99885 ORPHA:139396 ORPHA:98889 ORPHA:313772 OMIM:614487 ORPHA:475 OMIM:608629 ORPHA:220493 OMIM:607822 OMIM:606889 OMIM:208920 OMIM:612291 OMIM:618161 OMIM:620141 ORPHA:306674 ORPHA:2131 OMIM:602481 OMIM:300423 ORPHA:93952 OMIM:183090 OMIM:617120 ORPHA:261330 OMIM:617822 OMIM:115150 OMIM:105550 ORPHA:275872 ORPHA:100070 OMIM:618087 OMIM:619111 OMIM:612285 ORPHA:1454 ORPHA:3095 ORPHA:93925 ORPHA:93924 ORPHA:93926 ORPHA:220386 OMIM:616781 OMIM:617761 OMIM:610188 OMIM:614464 ORPHA:529965 OMIM:617682 OMIM:618205 OMIM:617854 OMIM:614615 OMIM:221820 OMIM:615636 ORPHA:397715 ORPHA:453521 OMIM:616127 ORPHA:300536 ORPHA:79244 OMIM:245348 ORPHA:589821 OMIM:614388 OMIM:617330 OMIM:254780 OMIM:614678 ORPHA:171629 OMIM:613454 ORPHA:391372 OMIM:613670 ORPHA:209908 OMIM:602081 ORPHA:725 ORPHA:79237 ORPHA:79239 OMIM:230900 ORPHA:2072 OMIM:617810 ORPHA:529665 OMIM:616204 OMIM:245570 ORPHA:98818 ORPHA:163721 OMIM:607485 OMIM:619759 OMIM:600142 OMIM:615630 OMIM:619582 OMIM:213300 ORPHA:208513 ORPHA:363958 ORPHA:363965 OMIM:135500 OMIM:616728 ORPHA:477993 OMIM:618505 OMIM:619476 ORPHA:370022 OMIM:615960 ORPHA:240103 ORPHA:240112 ORPHA:240094 OMIM:601104 OMIM:618273 OMIM:300055 OMIM:312750 ORPHA:778 OMIM:618009 OMIM:617121 ORPHA:251347 OMIM:604391 OMIM:618198 ORPHA:404454 ORPHA:209905 ORPHA:466791 OMIM:300967 OMIM:609583 ORPHA:220497 OMIM:615009 OMIM:234200 OMIM:615665 OMIM:614867 ORPHA:247262 OMIM:617767 OMIM:615217 ORPHA:64753 ORPHA:199351 OMIM:612953 ORPHA:280229 ORPHA:1170 OMIM:616267 ORPHA:459033 OMIM:608703 OMIM:619352 OMIM:619680 OMIM:137440 ORPHA:314655 ORPHA:1713 ORPHA:137634 OMIM:618060 OMIM:619113 OMIM:611560 OMIM:606002 ORPHA:261197 ORPHA:415 ORPHA:71277 OMIM:617595 OMIM:300352 ORPHA:77293 ORPHA:397709 OMIM:616354 ORPHA:67045 ORPHA:101000 ORPHA:101001 OMIM:248900 OMIM:612716 OMIM:617145 ORPHA:2044 OMIM:300643 ORPHA:412057 OMIM:617757 OMIM:615530 OMIM:607136 ORPHA:52368 OMIM:617562 OMIM:617563 OMIM:614465 OMIM:608091 OMIM:619562 OMIM:614970 ORPHA:2752 OMIM:216360 OMIM:610688 OMIM:619653 OMIM:614969 OMIM:619185 ORPHA:284324 OMIM:615356 ORPHA:2770 OMIM:618193 OMIM:192315 OMIM:615157 ORPHA:467166 ORPHA:300573 ORPHA:300570 OMIM:221770 ORPHA:238446 OMIM:618076 OMIM:616863 ORPHA:466934 OMIM:617633 OMIM:616541 ORPHA:3454 OMIM:314580 OMIM:301041
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.