Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0002186 | HP:0002186 | Apraxia | 0 | AARS2 CL E G H | 57505 | 21022 | OMIM:615889 | Leukoencephalopathy, progressive, with ovarian failure | . | | | 143 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | ABCA7 CL E G H | 10347 | 37 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | HP:0040283 - Occasional | | | 3 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | ABCC8 CL E G H | 6833 | 59 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | HP:0040283 - Occasional | | | 245 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | ABCD1 CL E G H | 215 | 61 | ORPHA:139396 | X-linked cerebral adrenoleukodystrophy | HP:0040283 - Occasional | | | 135 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | ADGRG1 CL E G H | 9289 | 4512 | ORPHA:98889 | Bilateral perisylvian polymicrogyria | | | | 88 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | AFG3L2 CL E G H | 10939 | 315 | ORPHA:313772 | Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome | | | | 86 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | AFG3L2 CL E G H | 10939 | 315 | OMIM:614487 | Spastic ataxia 5, autosomal recessive | | | | 86 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | AHI1 CL E G H | 54806 | 21575 | ORPHA:475 | Joubert syndrome | | | | 175 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | AHI1 CL E G H | 54806 | 21575 | OMIM:608629 | Joubert syndrome 3 | | | | 175 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | AHI1 CL E G H | 54806 | 21575 | ORPHA:220493 | Joubert syndrome with ocular defect | | | | 175 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | APOE CL E G H | 348 | 613 | OMIM:607822 | Alzheimer disease 3 | . | | | 39 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | APOE CL E G H | 348 | 613 | OMIM:606889 | Alzheimer disease 4 | | | | 39 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | APP CL E G H | 351 | 620 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | HP:0040283 - Occasional | | | 74 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | APTX CL E G H | 54840 | 15984 | OMIM:208920 | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | | | | 61 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | ARL13B CL E G H | 200894 | 25419 | ORPHA:475 | Joubert syndrome | | | | 62 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | ARL13B CL E G H | 200894 | 25419 | OMIM:612291 | JOUBERT SYNDROME 8; JBTS8 | | | | 62 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | ARL3 CL E G H | 403 | 694 | ORPHA:475 | Joubert syndrome | | | | 1 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | ARL3 CL E G H | 403 | 694 | OMIM:618161 | JOUBERT SYNDROME 35; JBTS35 | | | | 1 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | ARMC9 CL E G H | 80210 | 20730 | ORPHA:475 | Joubert syndrome | | | | | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | ARPC4 CL E G H | 10093 | 707 | OMIM:620141 | | | | | | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | ATP13A2 CL E G H | 23400 | 30213 | ORPHA:306674 | Kufor-Rakeb syndrome | | | | 100 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | ATP1A2 CL E G H | 477 | 800 | ORPHA:2131 | Alternating hemiplegia of childhood | | | | 239 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | ATP1A2 CL E G H | 477 | 800 | OMIM:602481 | Migraine, familial hemiplegic, 2 | . | | | 239 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | ATP1A3 CL E G H | 478 | 801 | ORPHA:2131 | Alternating hemiplegia of childhood | | | | 150 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | ATP6AP2 CL E G H | 10159 | 18305 | OMIM:300423 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH | | | | 36 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | ATP6AP2 CL E G H | 10159 | 18305 | ORPHA:93952 | X-linked intellectual disability, Hedera type | HP:0040283 - Occasional | | | 36 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | ATXN2 CL E G H | 6311 | 10555 | OMIM:183090 | Spinocerebellar ataxia 2 | | | | 11 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | B9D1 CL E G H | 27077 | 24123 | ORPHA:475 | Joubert syndrome | | | | 28 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | B9D1 CL E G H | 27077 | 24123 | OMIM:617120 | Joubert syndrome 27 | | | | 28 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | B9D2 CL E G H | 80776 | 28636 | ORPHA:475 | Joubert syndrome | | | | 34 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | BCR CL E G H | 613 | 1014 | ORPHA:261330 | Distal 22q11.2 microdeletion syndrome | | | | 5 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | BLTP1 CL E G H | 84162 | 26953 | OMIM:617822 | Alkuraya-Kucinskas syndrome | | | | | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | BRAF CL E G H | 673 | 1097 | OMIM:115150 | Cardiofaciocutaneous syndrome 1 | | | | 276 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | C9ORF72 CL E G H | 203228 | 28337 | OMIM:105550 | Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 | . | | | 56 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | C9ORF72 CL E G H | 203228 | 28337 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040282 - Frequent | | | 56 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | C9ORF72 CL E G H | 203228 | 28337 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040282 - Frequent | | | 56 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | CACNA1A CL E G H | 773 | 1388 | ORPHA:2131 | Alternating hemiplegia of childhood | | | | 449 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | CACNA1G CL E G H | 8913 | 1394 | OMIM:618087 | Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits | | | | 32 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | CBY1 CL E G H | 25776 | 1307 | ORPHA:475 | Joubert syndrome | | | | 1 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | CC2D2A CL E G H | 57545 | 29253 | OMIM:619111 | COACH SYNDROME 2; COACH2 | | | | 247 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | CC2D2A CL E G H | 57545 | 29253 | OMIM:612285 | Joubert syndrome 9 | | | | 247 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:1454 | Joubert syndrome with hepatic defect | | | | 247 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:3095 | Atypical Rett syndrome | HP:0040282 - Frequent | | | 405 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:93925 | Alobar holoprosencephaly | | | | 200 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:93924 | Lobar holoprosencephaly | | | | 200 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 200 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 200 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | CEP104 CL E G H | 9731 | 24866 | ORPHA:475 | Joubert syndrome | | | | 5 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | CEP104 CL E G H | 9731 | 24866 | OMIM:616781 | Joubert syndrome 25 | | | | 5 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | CEP120 CL E G H | 153241 | 26690 | ORPHA:475 | Joubert syndrome | | | | 7 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | CEP120 CL E G H | 153241 | 26690 | OMIM:617761 | Joubert syndrome 31 | | | | 7 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | CEP120 CL E G H | 153241 | 26690 | ORPHA:220493 | Joubert syndrome with ocular defect | | | | 7 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | CEP290 CL E G H | 80184 | 29021 | OMIM:610188 | Joubert syndrome 5 | | | | 342 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | CEP41 CL E G H | 95681 | 12370 | ORPHA:475 | Joubert syndrome | | | | 90 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | CEP41 CL E G H | 95681 | 12370 | OMIM:614464 | Joubert syndrome 15 | | | | 90 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | CEP41 CL E G H | 95681 | 12370 | ORPHA:220493 | Joubert syndrome with ocular defect | | | | 90 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | CHCHD10 CL E G H | 400916 | 15559 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040282 - Frequent | | | 11 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | CHD1 CL E G H | 1105 | 1915 | ORPHA:529965 | Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome | | | | 2 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | CHD1 CL E G H | 1105 | 1915 | OMIM:617682 | Pilarowski-Bjornsson syndrome | | | | 2 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | CHD3 CL E G H | 1107 | 1918 | OMIM:618205 | Snijders blok-campeau syndrome | | | | 2 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | CHMP2B CL E G H | 25978 | 24537 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040282 - Frequent | | | 42 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | CLTC CL E G H | 1213 | 2092 | OMIM:617854 | Mental retardation, autosomal dominant 56 | | | | 1 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | CPLANE1 CL E G H | 65250 | 25801 | ORPHA:475 | Joubert syndrome | | | | | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | CPLANE1 CL E G H | 65250 | 25801 | OMIM:614615 | Joubert syndrome 17 | | | | | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | CRKL CL E G H | 1399 | 2363 | ORPHA:261330 | Distal 22q11.2 microdeletion syndrome | | | | | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | CSF1R CL E G H | 1436 | 2433 | OMIM:221820 | Leukoencephalopathy, diffuse hereditary, with spheroids | . | | | 149 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:475 | Joubert syndrome | | | | 57 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | CSPP1 CL E G H | 79848 | 26193 | OMIM:615636 | Joubert syndrome 21 | | | | 57 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | | | | 57 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | CWF19L1 CL E G H | 55280 | 25613 | ORPHA:453521 | Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency | | | | 9 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | CWF19L1 CL E G H | 55280 | 25613 | OMIM:616127 | Spinocerebellar ataxia, autosomal recessive 17 | | | | 9 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | DDOST CL E G H | 1650 | 2728 | ORPHA:300536 | DDOST-CDG | | | | 62 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93925 | Alobar holoprosencephaly | | | | 22 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93924 | Lobar holoprosencephaly | | | | 22 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 22 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 22 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | DLAT CL E G H | 1737 | 2896 | ORPHA:79244 | Pyruvate dehydrogenase E2 deficiency | | | | 82 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | DLAT CL E G H | 1737 | 2896 | OMIM:245348 | Pyruvate dehydrogenase E2 deficiency | | | | 82 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93925 | Alobar holoprosencephaly | | | | 3 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93924 | Lobar holoprosencephaly | | | | 3 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 3 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 3 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | DMPK CL E G H | 1760 | 2933 | ORPHA:589821 | Congenital-onset Steinert myotonic dystrophy | | | | 152 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | DNM1L CL E G H | 10059 | 2973 | OMIM:614388 | Encephalopathy due to defective mitochondrial and peroxisomal fission 1 | | | | 94 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | EBF3 CL E G H | 253738 | 19087 | OMIM:617330 | HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS | | | | 25 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | EPM2A CL E G H | 7957 | 3413 | OMIM:254780 | Myoclonic epilepsy of lafora | . | | | 83 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | EXOSC3 CL E G H | 51010 | 17944 | OMIM:614678 | Pontocerebellar hypoplasia, type 1B | | | | 38 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | FA2H CL E G H | 79152 | 21197 | ORPHA:171629 | Autosomal recessive spastic paraplegia type 35 | | | | 76 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93925 | Alobar holoprosencephaly | | | | 17 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93924 | Lobar holoprosencephaly | | | | 17 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 17 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 17 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:93924 | Lobar holoprosencephaly | | | | 172 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 172 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | FOXG1 CL E G H | 2290 | 3811 | OMIM:613454 | Rett syndrome, congenital variant | . | | | 177 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93925 | Alobar holoprosencephaly | | | | 48 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93924 | Lobar holoprosencephaly | | | | 48 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 48 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 48 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | FOXP1 CL E G H | 27086 | 3823 | ORPHA:391372 | Intellectual disability-severe speech delay-mild dysmorphism syndrome | | | | 184 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | FOXP1 CL E G H | 27086 | 3823 | OMIM:613670 | Mental retardation with language impairment and with or without autistic features | | | | 184 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | FOXP2 CL E G H | 93986 | 13875 | ORPHA:209908 | Childhood apraxia of speech | | | | 143 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | FOXP2 CL E G H | 93986 | 13875 | OMIM:602081 | Speech-language disorder-1 | | | | 143 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | FRRS1L CL E G H | 23732 | 1362 | ORPHA:725 | Continuous spikes and waves during sleep | | | | 4 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | FUS CL E G H | 2521 | 4010 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040282 - Frequent | | | 105 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | GABBR2 CL E G H | 9568 | 4507 | ORPHA:3095 | Atypical Rett syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | GALK1 CL E G H | 2584 | 4118 | ORPHA:79237 | Galactokinase deficiency | | | | 23 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | GALT CL E G H | 2592 | 4135 | ORPHA:79239 | Classic galactosemia | | | | 351 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93925 | Alobar holoprosencephaly | | | | 2 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93924 | Lobar holoprosencephaly | | | | 2 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 2 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 2 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:230900 | Gaucher disease, type II | | | | | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:2072 | Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome | | | | | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | GCK CL E G H | 2645 | 4195 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | HP:0040283 - Occasional | | | 237 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93925 | Alobar holoprosencephaly | | | | 173 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93924 | Lobar holoprosencephaly | | | | 173 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 173 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 173 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | GPAA1 CL E G H | 8733 | 4446 | OMIM:617810 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15 | | | | | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | GPAA1 CL E G H | 8733 | 4446 | ORPHA:529665 | Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome | | | | | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | GRID2 CL E G H | 2895 | 4576 | OMIM:616204 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR18 | | | | 18 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | GRIN2A CL E G H | 2903 | 4585 | ORPHA:725 | Continuous spikes and waves during sleep | | | | 434 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | GRIN2A CL E G H | 2903 | 4585 | OMIM:245570 | EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD | | | | 434 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | GRIN2A CL E G H | 2903 | 4585 | ORPHA:98818 | Landau-Kleffner syndrome | | | | 434 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | GRIN2A CL E G H | 2903 | 4585 | ORPHA:163721 | Rolandic epilepsy-speech dyspraxia syndrome | | | | 434 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | GRN CL E G H | 2896 | 4601 | OMIM:607485 | Frontotemporal lobar degeneration with TDP43 inclusions | . | | | 126 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | GRN CL E G H | 2896 | 4601 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040282 - Frequent | | | 126 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | H4C11 CL E G H | 8363 | 4785 | OMIM:619759 | TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEVANED2 | | | | | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | HTRA1 CL E G H | 5654 | 9476 | OMIM:600142 | Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) | | | | 34 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | HYLS1 CL E G H | 219844 | 26558 | ORPHA:475 | Joubert syndrome | | | | 31 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | IFT172 CL E G H | 26160 | 30391 | OMIM:615630 | Short-Rib thoracic dysplasia 10 with or without polydactyly | | | | 48 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | IFT74 CL E G H | 80173 | 21424 | OMIM:619582 | JOUBERT SYNDROME 40; JBTS40 | | | | 3 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | INPP5E CL E G H | 56623 | 21474 | ORPHA:475 | Joubert syndrome | | | | 111 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | INPP5E CL E G H | 56623 | 21474 | OMIM:213300 | Joubert syndrome 1 | | | | 111 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | INPP5E CL E G H | 56623 | 21474 | ORPHA:1454 | Joubert syndrome with hepatic defect | | | | 111 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | INPP5E CL E G H | 56623 | 21474 | ORPHA:220493 | Joubert syndrome with ocular defect | | | | 111 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | INS CL E G H | 3630 | 6081 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | HP:0040283 - Occasional | | | 62 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | ITPR1 CL E G H | 3708 | 6180 | ORPHA:208513 | Spinocerebellar ataxia type 29 | | | | 177 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363958 | 17q21.31 microdeletion syndrome | | | | 283 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363965 | Koolen-De Vries syndrome due to a point mutation | | | | 283 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | KATNIP CL E G H | 23247 | 29068 | ORPHA:475 | Joubert syndrome | | | | | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | KCNH1 CL E G H | 3756 | 6250 | OMIM:135500 | Zimmermann-Laband syndrome 1 | | | | 13 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | HP:0040283 - Occasional | | | 127 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | KDM1A CL E G H | 23028 | 29079 | OMIM:616728 | Cleft palate, psychomotor retardation, and distinctive facial features | | | | 3 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | KDM1A CL E G H | 23028 | 29079 | ORPHA:477993 | Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome | | | | 3 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | KDM6B CL E G H | 23135 | 29012 | OMIM:618505 | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities | | | | 9 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | KIAA0586 CL E G H | 9786 | 19960 | ORPHA:475 | Joubert syndrome | | | | 24 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | KIAA0586 CL E G H | 9786 | 19960 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | | | | 24 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | KIAA0753 CL E G H | 9851 | 29110 | OMIM:619476 | JOUBERT SYNDROME 38; JBTS38 | | | | 4 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | LAMA1 CL E G H | 284217 | 6481 | ORPHA:370022 | Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome | | | | 35 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | LAMA1 CL E G H | 284217 | 6481 | OMIM:615960 | Poretti-Boltshauser syndrome | | | | 35 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | MAPK1 CL E G H | 5594 | 6871 | ORPHA:261330 | Distal 22q11.2 microdeletion syndrome | | | | 2 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040282 - Frequent | | | 140 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:240103 | Progressive supranuclear palsy-corticobasal syndrome | HP:0040281 - Very frequent | | | 140 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:240112 | Progressive supranuclear palsy-progressive non-fluent aphasia syndrome | | | | 140 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:240094 | Progressive supranuclear palsy-pure akinesia with gait freezing syndrome | | | | 140 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | MAPT CL E G H | 4137 | 6893 | OMIM:601104 | Supranuclear palsy, progressive, 1 | | | | 140 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | MAST1 CL E G H | 22983 | 19034 | OMIM:618273 | Mega-Corpus-Callosum syndrome with cerebellar hypoplasia and cortical malformations | | | | 1 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | MECP2 CL E G H | 4204 | 6990 | ORPHA:3095 | Atypical Rett syndrome | HP:0040282 - Frequent | | | 950 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | MECP2 CL E G H | 4204 | 6990 | OMIM:300055 | Mental retardation, X-linked, syndromic 13 | | | | 950 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | MECP2 CL E G H | 4204 | 6990 | OMIM:312750 | Rett syndrome | | | | 950 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | MECP2 CL E G H | 4204 | 6990 | ORPHA:778 | Rett syndrome | | | | 950 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | MED13 CL E G H | 9969 | 22474 | OMIM:618009 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD61 | | | | 4 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | MKS1 CL E G H | 54903 | 7121 | ORPHA:475 | Joubert syndrome | | | | 127 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | MKS1 CL E G H | 54903 | 7121 | OMIM:617121 | JOUBERT SYNDROME 28; JBTS28 | | | | 127 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | MKS1 CL E G H | 54903 | 7121 | ORPHA:220493 | Joubert syndrome with ocular defect | | | | 127 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | MRE11 CL E G H | 4361 | 7230 | ORPHA:251347 | Ataxia-telangiectasia-like disorder | | | | 532 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | MRE11 CL E G H | 4361 | 7230 | OMIM:604391 | Ataxia-Telangiectasia-Like disorder 1 | | | | 532 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | MYO9A CL E G H | 4649 | 7608 | OMIM:618198 | Myasthenic syndrome, congenital, 24, presynaptic | | | | | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | NGLY1 CL E G H | 55768 | 17646 | ORPHA:404454 | Alacrimia-choreoathetosis-liver dysfunction syndrome | | | | 32 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | NHLRC1 CL E G H | 378884 | 21576 | OMIM:254780 | Myoclonic epilepsy of lafora | . | | | 77 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | NKX2-1 CL E G H | 7080 | 11825 | ORPHA:209905 | Brain-lung-thyroid syndrome | HP:0040283 - Occasional | | | 51 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:93925 | Alobar holoprosencephaly | | | | 45 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:93924 | Lobar holoprosencephaly | | | | 45 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 45 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 45 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | NONO CL E G H | 4841 | 7871 | ORPHA:466791 | Macrocephaly-intellectual disability-left ventricular non compaction syndrome | | | | 10 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | NONO CL E G H | 4841 | 7871 | OMIM:300967 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34 | | | | 10 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | NPHP1 CL E G H | 4867 | 7905 | OMIM:609583 | Joubert syndrome 4 | | | | 85 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | NPHP1 CL E G H | 4867 | 7905 | ORPHA:220497 | Joubert syndrome with renal defect | | | | 85 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | NTNG1 CL E G H | 22854 | 23319 | ORPHA:3095 | Atypical Rett syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | PACS1 CL E G H | 55690 | 30032 | OMIM:615009 | Schuurs-Hoeijmakers syndrome | | | | 24 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | PANK2 CL E G H | 80025 | 15894 | OMIM:234200 | Neurodegeneration with brain iron accumulation 1 | | | | 55 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | PDE6D CL E G H | 5147 | 8788 | OMIM:615665 | Joubert syndrome 22 | | | | 1 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | PDX1 CL E G H | 3651 | 6107 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | HP:0040283 - Occasional | | | 30 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | PEX2 CL E G H | 5828 | 9717 | OMIM:614867 | Peroxisome biogenesis disorder 5B | | | | 82 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | PGAP2 CL E G H | 27315 | 17893 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | | | | 8 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | PGAP3 CL E G H | 93210 | 23719 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | | | | 20 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | PI4KA CL E G H | 5297 | 8983 | ORPHA:98889 | Bilateral perisylvian polymicrogyria | | | | 11 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | PIBF1 CL E G H | 10464 | 23352 | ORPHA:475 | Joubert syndrome | | | | 4 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | PIBF1 CL E G H | 10464 | 23352 | OMIM:617767 | Joubert syndrome 33 | | | | 4 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | PIGL CL E G H | 9487 | 8966 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | | | | 36 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | PIGO CL E G H | 84720 | 23215 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | | | | 84 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | PIGV CL E G H | 55650 | 26031 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | | | | 57 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | PIGW CL E G H | 284098 | 23213 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | | | | 6 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | PIGY CL E G H | 84992 | 28213 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | | | | 2 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | PIK3R5 CL E G H | 23533 | 30035 | OMIM:615217 | Ataxia-Oculomotor apraxia 3 | | | | 11 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | PIK3R5 CL E G H | 23533 | 30035 | ORPHA:64753 | Spinocerebellar ataxia with axonal neuropathy type 2 | | | | 11 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | PLA2G6 CL E G H | 8398 | 9039 | ORPHA:199351 | Adult-onset dystonia-parkinsonism | | | | 133 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | PLA2G6 CL E G H | 8398 | 9039 | OMIM:612953 | Parkinson disease 14, autosomal recessive | . | | | 133 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | PLCH1 CL E G H | 23007 | 29185 | ORPHA:93925 | Alobar holoprosencephaly | | | | | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | PLP1 CL E G H | 5354 | 9086 | ORPHA:280229 | Pelizaeus-Merzbacher disease in female carriers | | | | 60 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | PMPCA CL E G H | 23203 | 18667 | ORPHA:1170 | Autosomal recessive cerebelloparenchymal disorder type 3 | | | | 7 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | PNKP CL E G H | 11284 | 9154 | OMIM:616267 | Ataxia-Oculomotor apraxia 4 | | | | 244 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | PNKP CL E G H | 11284 | 9154 | ORPHA:459033 | Ataxia-oculomotor apraxia type 4 | | | | 244 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | PNPT1 CL E G H | 87178 | 23166 | OMIM:608703 | Spinocerebellar ataxia 25 | | | | 60 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | POU4F1 CL E G H | 5457 | 9218 | OMIM:619352 | ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET; ATITHS | | | | | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | PRKAR1B CL E G H | 5575 | 9390 | OMIM:619680 | MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS | | | | 2 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | PRNP CL E G H | 5621 | 9449 | OMIM:137440 | Gerstmann-Straussler disease | . | | | 69 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | PSEN1 CL E G H | 5663 | 9508 | OMIM:607822 | Alzheimer disease 3 | . | | | 241 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | PSEN1 CL E G H | 5663 | 9508 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | HP:0040283 - Occasional | | | 241 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | PSEN1 CL E G H | 5663 | 9508 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040282 - Frequent | | | 241 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | PSEN2 CL E G H | 5664 | 9509 | OMIM:606889 | Alzheimer disease 4 | | | | 59 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | PSEN2 CL E G H | 5664 | 9509 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | HP:0040283 - Occasional | | | 59 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93925 | Alobar holoprosencephaly | | | | 665 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93924 | Lobar holoprosencephaly | | | | 665 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 665 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 665 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | PURA CL E G H | 5813 | 9701 | ORPHA:314655 | Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion | | | | 53 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | RAI1 CL E G H | 10743 | 9834 | ORPHA:1713 | 17p11.2 microduplication syndrome | | | | 150 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | RNF135 CL E G H | 84282 | 21158 | ORPHA:137634 | Overgrowth-macrocephaly-facial dysmorphism syndrome | | | | 11 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | RORA CL E G H | 6095 | 10258 | OMIM:618060 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA | | | | 1 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | RPGRIP1L CL E G H | 23322 | 29168 | OMIM:619113 | COACH SYNDROME 3; COACH3 | | | | 167 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | RPGRIP1L CL E G H | 23322 | 29168 | OMIM:611560 | Joubert syndrome 7 | | | | 167 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:1454 | Joubert syndrome with hepatic defect | | | | 167 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:220497 | Joubert syndrome with renal defect | | | | 167 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | SETX CL E G H | 23064 | 445 | ORPHA:64753 | Spinocerebellar ataxia with axonal neuropathy type 2 | | | | 162 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | SETX CL E G H | 23064 | 445 | OMIM:606002 | Spinocerebellar ataxia, autosomal recessive 1 | | | | 162 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | SH2B1 CL E G H | 25970 | 30417 | ORPHA:261197 | Proximal 16p11.2 microdeletion syndrome | | | | | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:93925 | Alobar holoprosencephaly | | | | 67 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:93924 | Lobar holoprosencephaly | | | | 67 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 67 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 67 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93925 | Alobar holoprosencephaly | | | | 32 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93924 | Lobar holoprosencephaly | | | | 32 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 32 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 32 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | SLC1A3 CL E G H | 6507 | 10941 | ORPHA:2131 | Alternating hemiplegia of childhood | | | | 63 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | SLC25A15 CL E G H | 10166 | 10985 | ORPHA:415 | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | | | | 88 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | SLC2A1 CL E G H | 6513 | 11005 | ORPHA:71277 | Classic glucose transporter type 1 deficiency syndrome | HP:0040283 - Occasional | | | 255 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | SLC30A9 CL E G H | 10463 | 1329 | OMIM:617595 | Birk-Landau-Perez syndrome | | | | 1 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | SLC6A8 CL E G H | 6535 | 11055 | OMIM:300352 | Creatine deficiency syndrome, X-linked | | | | 122 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | SMC1A CL E G H | 8243 | 11111 | ORPHA:3095 | Atypical Rett syndrome | HP:0040282 - Frequent | | | 135 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | SMC1A CL E G H | 8243 | 11111 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 135 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | SMPD1 CL E G H | 6609 | 11120 | ORPHA:77293 | Niemann-Pick disease type B | HP:0040284 - Very rare | | | 164 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | SNX14 CL E G H | 57231 | 14977 | ORPHA:397709 | Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome | HP:0040283 - Occasional | | | 14 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | SNX14 CL E G H | 57231 | 14977 | OMIM:616354 | Spinocerebellar ataxia, autosomal recessive 20 | . | | | 14 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | SORL1 CL E G H | 6653 | 11185 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | HP:0040283 - Occasional | | | 3 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | SOX3 CL E G H | 6658 | 11199 | ORPHA:67045 | X-linked intellectual disability with isolated growth hormone deficiency | | | | 24 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | SPART CL E G H | 23111 | 18514 | ORPHA:101000 | Autosomal recessive spastic paraplegia type 20 | | | | 66 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | SPG21 CL E G H | 51324 | 20373 | ORPHA:101001 | Autosomal recessive spastic paraplegia type 21 | HP:0040282 - Frequent | | | 28 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | SPG21 CL E G H | 51324 | 20373 | OMIM:248900 | Mast syndrome | HP:0040283 - Occasional | | | 28 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | SPR CL E G H | 6697 | 11257 | OMIM:612716 | Dystonia, dopa-responsive, due to sepiapterin reductase deficiency | | | | 28 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | SQSTM1 CL E G H | 8878 | 11280 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040282 - Frequent | | | 62 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | SQSTM1 CL E G H | 8878 | 11280 | OMIM:617145 | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | | | | 62 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | SRCAP CL E G H | 10847 | 16974 | ORPHA:2044 | Floating-Harbor syndrome | | | | 138 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | SRPX2 CL E G H | 27286 | 30668 | ORPHA:98889 | Bilateral perisylvian polymicrogyria | | | | 50 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | SRPX2 CL E G H | 27286 | 30668 | OMIM:300643 | Rolandic epilepsy, mental retardation, and speech dyspraxia | | | | 50 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | SRPX2 CL E G H | 27286 | 30668 | ORPHA:163721 | Rolandic epilepsy-speech dyspraxia syndrome | | | | 50 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | STAG2 CL E G H | 10735 | 11355 | ORPHA:93925 | Alobar holoprosencephaly | | | | 1 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | STAG2 CL E G H | 10735 | 11355 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 1 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | STAT3 CL E G H | 6774 | 11364 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | HP:0040283 - Occasional | | | 110 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:93925 | Alobar holoprosencephaly | | | | 99 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:93924 | Lobar holoprosencephaly | | | | 99 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 99 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 99 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | STUB1 CL E G H | 10273 | 11427 | ORPHA:412057 | Autosomal recessive cerebellar ataxia due to STUB1 deficiency | | | | 14 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | SUFU CL E G H | 51684 | 16466 | ORPHA:475 | Joubert syndrome | | | | 124 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | SUFU CL E G H | 51684 | 16466 | OMIM:617757 | Joubert syndrome 32 | | | | 124 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | SYNJ1 CL E G H | 8867 | 11503 | OMIM:615530 | Parkinson disease 20, early-onset | | | | 9 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | TARDBP CL E G H | 23435 | 11571 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040282 - Frequent | | | 65 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | TBK1 CL E G H | 29110 | 11584 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040282 - Frequent | | | 20 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | TBP CL E G H | 6908 | 11588 | OMIM:607136 | Spinocerebellar ataxia 17 | . | | | 7 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | TCTN1 CL E G H | 79600 | 26113 | ORPHA:475 | Joubert syndrome | | | | 45 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | TCTN2 CL E G H | 79867 | 25774 | ORPHA:475 | Joubert syndrome | | | | 76 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93925 | Alobar holoprosencephaly | | | | 1 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93924 | Lobar holoprosencephaly | | | | 1 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 1 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 1 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93925 | Alobar holoprosencephaly | | | | 32 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93924 | Lobar holoprosencephaly | | | | 32 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 32 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 32 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | TIMM8A CL E G H | 1678 | 11817 | ORPHA:52368 | Mohr-Tranebjaerg syndrome | HP:0040283 - Occasional | | | 15 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | TMEM106B CL E G H | 54664 | 22407 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040282 - Frequent | | | | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | TMEM107 CL E G H | 84314 | 28128 | OMIM:617562 | Meckel syndrome 13 | | | | 4 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | TMEM107 CL E G H | 84314 | 28128 | OMIM:617563 | Orofaciodigital syndrome XVI | | | | 4 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | TMEM138 CL E G H | 51524 | 26944 | OMIM:614465 | JOUBERT SYNDROME 16; JBTS16 | | | | 39 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | TMEM216 CL E G H | 51259 | 25018 | OMIM:608091 | Joubert syndrome 2 | | | | 45 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | TMEM218 CL E G H | 219854 | 27344 | ORPHA:475 | Joubert syndrome | | | | | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | TMEM218 CL E G H | 219854 | 27344 | OMIM:619562 | JOUBERT SYNDROME 39; JBTS39 | | | | | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | TMEM231 CL E G H | 79583 | 37234 | OMIM:614970 | Joubert syndrome 20 | | | | 33 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:2752 | Orofaciodigital syndrome type 3 | | | | 33 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:475 | Joubert syndrome | | | | 82 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:220497 | Joubert syndrome with renal defect | | | | 82 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | TMEM67 CL E G H | 91147 | 28396 | OMIM:216360 | Coach syndrome 1 | | | | 166 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:475 | Joubert syndrome | | | | 166 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | TMEM67 CL E G H | 91147 | 28396 | OMIM:610688 | Joubert syndrome 6 | | | | 166 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:1454 | Joubert syndrome with hepatic defect | | | | 166 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | TNR CL E G H | 7143 | 11953 | OMIM:619653 | NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO | | | | 7 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | TOE1 CL E G H | 114034 | 15954 | OMIM:614969 | Pontocerebellar hypoplasia, type 7 | | | | 6 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | TOGARAM1 CL E G H | 23116 | 19959 | ORPHA:475 | Joubert syndrome | | | | | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | TOGARAM1 CL E G H | 23116 | 19959 | OMIM:619185 | JOUBERT SYNDROME 37; JBTS37 | | | | | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | TOMM40 CL E G H | 10452 | 18001 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | HP:0040283 - Occasional | | | | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | TPP1 CL E G H | 1200 | 2073 | ORPHA:284324 | Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia | | | | 203 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | TRAPPC11 CL E G H | 60684 | 25751 | OMIM:615356 | Muscular dystrophy, limb-girdle, autosomal recessive 18 | | | | 27 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | TREM2 CL E G H | 54209 | 17761 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | HP:0040283 - Occasional | | | 31 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | TREM2 CL E G H | 54209 | 17761 | ORPHA:2770 | Nasu-Hakola disease | | | | 31 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | TREM2 CL E G H | 54209 | 17761 | OMIM:618193 | POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL2 | | | | 31 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | TREM2 CL E G H | 54209 | 17761 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040282 - Frequent | | | 31 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | TREX1 CL E G H | 11277 | 12269 | OMIM:192315 | Vasculopathy, retinal, with cerebral leukodystrophy | . | | | 56 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | TTC19 CL E G H | 54902 | 26006 | OMIM:615157 | Mitochondrial complex III deficiency, nuclear type 2 | . | | | 88 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | TUBA1A CL E G H | 7846 | 20766 | ORPHA:467166 | Tubulinopathy-associated dysgyria | | | | 106 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | TUBB2B CL E G H | 347733 | 30829 | ORPHA:300573 | Polymicrogyria due to TUBB2B mutation | | | | 39 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | TUBB2B CL E G H | 347733 | 30829 | ORPHA:467166 | Tubulinopathy-associated dysgyria | | | | 39 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | TUBB3 CL E G H | 10381 | 20772 | ORPHA:300570 | Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation | | | | 64 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | TUBB3 CL E G H | 10381 | 20772 | ORPHA:467166 | Tubulinopathy-associated dysgyria | | | | 64 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | TYROBP CL E G H | 7305 | 12449 | ORPHA:2770 | Nasu-Hakola disease | | | | 22 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | TYROBP CL E G H | 7305 | 12449 | OMIM:221770 | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy | . | | | 22 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | UBE3A CL E G H | 7337 | 12496 | ORPHA:238446 | 15q11q13 microduplication syndrome | HP:0040282 - Frequent | | | 278 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | UFC1 CL E G H | 51506 | 26941 | OMIM:618076 | Neurodevelopmental disorder with spasticity and poor growth | | | | | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | USP7 CL E G H | 7874 | 12630 | OMIM:616863 | Chromosome 16p13.2 deletion syndrome | | | | 2 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040282 - Frequent | | | 63 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040282 - Frequent | | | 63 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | VPS11 CL E G H | 55823 | 14583 | ORPHA:466934 | VPS11-related autosomal recessive hypomyelinating leukodystrophy | | | | 1 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | XRCC1 CL E G H | 7515 | 12828 | OMIM:617633 | Spinocerebellar ataxia, autosomal recessive 26 | | | | 4 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | XRCC4 CL E G H | 7518 | 12831 | OMIM:616541 | Short stature, microcephaly, and endocrine dysfunction | | | | 9 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | ZC4H2 CL E G H | 55906 | 24931 | ORPHA:3454 | Intellectual disability-developmental delay-contractures syndrome | | | | 19 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | ZC4H2 CL E G H | 55906 | 24931 | OMIM:314580 | Wieacker-Wolff syndrome | . | | | 19 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | ZC4H2 CL E G H | 55906 | 24931 | OMIM:301041 | WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR | | | | 19 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:93925 | Alobar holoprosencephaly | | | | 34 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:93924 | Lobar holoprosencephaly | | | | 34 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 34 | | |
HP:0002186 | HP:0002186 | Apraxia | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 34 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | ABCA7 CL E G H | 10347 | 37 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | HP:0040283 - Occasional | | | 3 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | ABCD1 CL E G H | 215 | 61 | ORPHA:139396 | X-linked cerebral adrenoleukodystrophy | HP:0040283 - Occasional | | | 135 | | |
HP:0002186 | HP:0007301 | Oromotor apraxia | 1 | ADGRG1 CL E G H | 9289 | 4512 | ORPHA:98889 | Bilateral perisylvian polymicrogyria | HP:0040283 - Occasional | | | 88 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | AFG3L2 CL E G H | 10939 | 315 | ORPHA:313772 | Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome | HP:0040282 - Frequent | | | 86 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | AFG3L2 CL E G H | 10939 | 315 | OMIM:614487 | Spastic ataxia 5, autosomal recessive | . | | | 86 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | AHI1 CL E G H | 54806 | 21575 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 175 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | AHI1 CL E G H | 54806 | 21575 | OMIM:608629 | Joubert syndrome 3 | . | | | 175 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | AHI1 CL E G H | 54806 | 21575 | ORPHA:220493 | Joubert syndrome with ocular defect | HP:0040281 - Very frequent | | | 175 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | APP CL E G H | 351 | 620 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | HP:0040283 - Occasional | | | 74 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | APTX CL E G H | 54840 | 15984 | OMIM:208920 | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | | | | 61 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | ARL13B CL E G H | 200894 | 25419 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 62 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | ARL13B CL E G H | 200894 | 25419 | OMIM:612291 | JOUBERT SYNDROME 8; JBTS8 | | | | 62 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | ARL3 CL E G H | 403 | 694 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | ARL3 CL E G H | 403 | 694 | OMIM:618161 | JOUBERT SYNDROME 35; JBTS35 | | | | 1 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | ARMC9 CL E G H | 80210 | 20730 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002186 | HP:0000658 | Eyelid apraxia | 1 | ATP13A2 CL E G H | 23400 | 30213 | ORPHA:306674 | Kufor-Rakeb syndrome | HP:0040283 - Occasional | | | 100 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | ATP1A2 CL E G H | 477 | 800 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040283 - Occasional | | | 239 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | ATP1A3 CL E G H | 478 | 801 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040283 - Occasional | | | 150 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | ATXN2 CL E G H | 6311 | 10555 | OMIM:183090 | Spinocerebellar ataxia 2 | . | | | 11 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | B9D1 CL E G H | 27077 | 24123 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 28 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | B9D1 CL E G H | 27077 | 24123 | OMIM:617120 | Joubert syndrome 27 | . | | | 28 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | B9D2 CL E G H | 80776 | 28636 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 34 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | BCR CL E G H | 613 | 1014 | ORPHA:261330 | Distal 22q11.2 microdeletion syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | BLTP1 CL E G H | 84162 | 26953 | OMIM:617822 | Alkuraya-Kucinskas syndrome | . | | | | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | BRAF CL E G H | 673 | 1097 | OMIM:115150 | Cardiofaciocutaneous syndrome 1 | . | | | 276 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | CACNA1A CL E G H | 773 | 1388 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040283 - Occasional | | | 449 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | CACNA1G CL E G H | 8913 | 1394 | OMIM:618087 | Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits | . | | | 32 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | CBY1 CL E G H | 25776 | 1307 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | CC2D2A CL E G H | 57545 | 29253 | OMIM:619111 | COACH SYNDROME 2; COACH2 | | | | 247 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | CC2D2A CL E G H | 57545 | 29253 | OMIM:612285 | Joubert syndrome 9 | | | | 247 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040281 - Very frequent | | | 247 | | |
HP:0002186 | HP:0032588 | Hand apraxia | 1 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:3095 | Atypical Rett syndrome | HP:0040282 - Frequent | | | 405 | | |
HP:0002186 | HP:0007301 | Oromotor apraxia | 1 | CDON CL E G H | 50937 | 17104 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 200 | | |
HP:0002186 | HP:0007301 | Oromotor apraxia | 1 | CDON CL E G H | 50937 | 17104 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 200 | | |
HP:0002186 | HP:0007301 | Oromotor apraxia | 1 | CDON CL E G H | 50937 | 17104 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 200 | | |
HP:0002186 | HP:0007301 | Oromotor apraxia | 1 | CDON CL E G H | 50937 | 17104 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 200 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | CEP104 CL E G H | 9731 | 24866 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | CEP104 CL E G H | 9731 | 24866 | OMIM:616781 | Joubert syndrome 25 | | | | 5 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | CEP120 CL E G H | 153241 | 26690 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | CEP120 CL E G H | 153241 | 26690 | OMIM:617761 | Joubert syndrome 31 | . | | | 7 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | CEP120 CL E G H | 153241 | 26690 | ORPHA:220493 | Joubert syndrome with ocular defect | HP:0040281 - Very frequent | | | 7 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | CEP290 CL E G H | 80184 | 29021 | OMIM:610188 | Joubert syndrome 5 | . | | | 342 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | CEP41 CL E G H | 95681 | 12370 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 90 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | CEP41 CL E G H | 95681 | 12370 | OMIM:614464 | Joubert syndrome 15 | HP:0040282 - Frequent | | | 90 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | CEP41 CL E G H | 95681 | 12370 | ORPHA:220493 | Joubert syndrome with ocular defect | HP:0040281 - Very frequent | | | 90 | | |
HP:0002186 | HP:0011098 | Speech apraxia | 1 | CHD1 CL E G H | 1105 | 1915 | ORPHA:529965 | Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0002186 | HP:0011098 | Speech apraxia | 1 | CHD1 CL E G H | 1105 | 1915 | OMIM:617682 | Pilarowski-Bjornsson syndrome | . | | | 2 | | |
HP:0002186 | HP:0011098 | Speech apraxia | 1 | CHD3 CL E G H | 1107 | 1918 | OMIM:618205 | Snijders blok-campeau syndrome | . | | | 2 | | |
HP:0002186 | HP:0007301 | Oromotor apraxia | 1 | CLTC CL E G H | 1213 | 2092 | OMIM:617854 | Mental retardation, autosomal dominant 56 | | | | 1 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | CPLANE1 CL E G H | 65250 | 25801 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | CPLANE1 CL E G H | 65250 | 25801 | OMIM:614615 | Joubert syndrome 17 | . | | | | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | CRKL CL E G H | 1399 | 2363 | ORPHA:261330 | Distal 22q11.2 microdeletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 57 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | CSPP1 CL E G H | 79848 | 26193 | OMIM:615636 | Joubert syndrome 21 | . | | | 57 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | HP:0040282 - Frequent | | | 57 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | CWF19L1 CL E G H | 55280 | 25613 | ORPHA:453521 | Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency | HP:0040282 - Frequent | | | 9 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | CWF19L1 CL E G H | 55280 | 25613 | OMIM:616127 | Spinocerebellar ataxia, autosomal recessive 17 | | | | 9 | | |
HP:0002186 | HP:0007301 | Oromotor apraxia | 1 | DDOST CL E G H | 1650 | 2728 | ORPHA:300536 | DDOST-CDG | HP:0040281 - Very frequent | | | 62 | | |
HP:0002186 | HP:0007301 | Oromotor apraxia | 1 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 22 | | |
HP:0002186 | HP:0007301 | Oromotor apraxia | 1 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 22 | | |
HP:0002186 | HP:0007301 | Oromotor apraxia | 1 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 22 | | |
HP:0002186 | HP:0007301 | Oromotor apraxia | 1 | DISP1 CL E G H | 84976 | 19711 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 22 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | DLAT CL E G H | 1737 | 2896 | OMIM:245348 | Pyruvate dehydrogenase E2 deficiency | . | | | 82 | | |
HP:0002186 | HP:0011098 | Speech apraxia | 1 | DLAT CL E G H | 1737 | 2896 | ORPHA:79244 | Pyruvate dehydrogenase E2 deficiency | HP:0040283 - Occasional | | | 82 | | |
HP:0002186 | HP:0007301 | Oromotor apraxia | 1 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 3 | | |
HP:0002186 | HP:0007301 | Oromotor apraxia | 1 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 3 | | |
HP:0002186 | HP:0007301 | Oromotor apraxia | 1 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 3 | | |
HP:0002186 | HP:0007301 | Oromotor apraxia | 1 | DLL1 CL E G H | 28514 | 2908 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 3 | | |
HP:0002186 | HP:0011098 | Speech apraxia | 1 | DMPK CL E G H | 1760 | 2933 | ORPHA:589821 | Congenital-onset Steinert myotonic dystrophy | | | | 152 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | DNM1L CL E G H | 10059 | 2973 | OMIM:614388 | Encephalopathy due to defective mitochondrial and peroxisomal fission 1 | . | | | 94 | | |
HP:0002186 | HP:0011098 | Speech apraxia | 1 | EBF3 CL E G H | 253738 | 19087 | OMIM:617330 | HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS | | | | 25 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | EXOSC3 CL E G H | 51010 | 17944 | OMIM:614678 | Pontocerebellar hypoplasia, type 1B | . | | | 38 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | FA2H CL E G H | 79152 | 21197 | ORPHA:171629 | Autosomal recessive spastic paraplegia type 35 | HP:0040282 - Frequent | | | 76 | | |
HP:0002186 | HP:0007301 | Oromotor apraxia | 1 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 17 | | |
HP:0002186 | HP:0007301 | Oromotor apraxia | 1 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 17 | | |
HP:0002186 | HP:0007301 | Oromotor apraxia | 1 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 17 | | |
HP:0002186 | HP:0007301 | Oromotor apraxia | 1 | FGF8 CL E G H | 2253 | 3686 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 17 | | |
HP:0002186 | HP:0007301 | Oromotor apraxia | 1 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 172 | | |
HP:0002186 | HP:0007301 | Oromotor apraxia | 1 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 172 | | |
HP:0002186 | HP:0007301 | Oromotor apraxia | 1 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 48 | | |
HP:0002186 | HP:0007301 | Oromotor apraxia | 1 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 48 | | |
HP:0002186 | HP:0007301 | Oromotor apraxia | 1 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 48 | | |
HP:0002186 | HP:0007301 | Oromotor apraxia | 1 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 48 | | |
HP:0002186 | HP:0007301 | Oromotor apraxia | 1 | FOXP1 CL E G H | 27086 | 3823 | ORPHA:391372 | Intellectual disability-severe speech delay-mild dysmorphism syndrome | HP:0040282 - Frequent | | | 184 | | |
HP:0002186 | HP:0011098 | Speech apraxia | 1 | FOXP1 CL E G H | 27086 | 3823 | OMIM:613670 | Mental retardation with language impairment and with or without autistic features | | | | 184 | | |
HP:0002186 | HP:0011098 | Speech apraxia | 1 | FOXP2 CL E G H | 93986 | 13875 | ORPHA:209908 | Childhood apraxia of speech | HP:0040282 - Frequent | | | 143 | | |
HP:0002186 | HP:0007301 | Oromotor apraxia | 1 | FOXP2 CL E G H | 93986 | 13875 | OMIM:602081 | Speech-language disorder-1 | . | | | 143 | | |
HP:0002186 | HP:0011098 | Speech apraxia | 1 | FRRS1L CL E G H | 23732 | 1362 | ORPHA:725 | Continuous spikes and waves during sleep | HP:0040283 - Occasional | | | 4 | | |
HP:0002186 | HP:0032588 | Hand apraxia | 1 | GABBR2 CL E G H | 9568 | 4507 | ORPHA:3095 | Atypical Rett syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0002186 | HP:0011098 | Speech apraxia | 1 | GALK1 CL E G H | 2584 | 4118 | ORPHA:79237 | Galactokinase deficiency | HP:0040283 - Occasional | | | 23 | | |
HP:0002186 | HP:0011098 | Speech apraxia | 1 | GALT CL E G H | 2592 | 4135 | ORPHA:79239 | Classic galactosemia | HP:0040283 - Occasional | | | 351 | | |
HP:0002186 | HP:0007301 | Oromotor apraxia | 1 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 2 | | |
HP:0002186 | HP:0007301 | Oromotor apraxia | 1 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 2 | | |
HP:0002186 | HP:0007301 | Oromotor apraxia | 1 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 2 | | |
HP:0002186 | HP:0007301 | Oromotor apraxia | 1 | GAS1 CL E G H | 2619 | 4165 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 2 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | GBA1 CL E G H | 2629 | 4177 | OMIM:230900 | Gaucher disease, type II | . | | | | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | GBA1 CL E G H | 2629 | 4177 | ORPHA:2072 | Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome | HP:0040283 - Occasional | | | | | |
HP:0002186 | HP:0007301 | Oromotor apraxia | 1 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 173 | | |
HP:0002186 | HP:0007301 | Oromotor apraxia | 1 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 173 | | |
HP:0002186 | HP:0007301 | Oromotor apraxia | 1 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 173 | | |
HP:0002186 | HP:0007301 | Oromotor apraxia | 1 | GLI2 CL E G H | 2736 | 4318 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 173 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | GPAA1 CL E G H | 8733 | 4446 | ORPHA:529665 | Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome | HP:0040282 - Frequent | | | | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | GRID2 CL E G H | 2895 | 4576 | OMIM:616204 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR18 | | | | 18 | | |
HP:0002186 | HP:0011098 | Speech apraxia | 1 | GRIN2A CL E G H | 2903 | 4585 | ORPHA:725 | Continuous spikes and waves during sleep | HP:0040283 - Occasional | | | 434 | | |
HP:0002186 | HP:0011098 | Speech apraxia | 1 | GRIN2A CL E G H | 2903 | 4585 | OMIM:245570 | EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD | | | | 434 | | |
HP:0002186 | HP:0011098 | Speech apraxia | 1 | GRIN2A CL E G H | 2903 | 4585 | ORPHA:98818 | Landau-Kleffner syndrome | HP:0040281 - Very frequent | | | 434 | | |
HP:0002186 | HP:0011098 | Speech apraxia | 1 | GRIN2A CL E G H | 2903 | 4585 | ORPHA:163721 | Rolandic epilepsy-speech dyspraxia syndrome | HP:0040281 - Very frequent | | | 434 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | H4C11 CL E G H | 8363 | 4785 | OMIM:619759 | TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEVANED2 | | | | | | |
HP:0002186 | HP:0010521 | Gait apraxia | 1 | HTRA1 CL E G H | 5654 | 9476 | OMIM:600142 | Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) | | | | 34 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | HYLS1 CL E G H | 219844 | 26558 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 31 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | IFT172 CL E G H | 26160 | 30391 | OMIM:615630 | Short-Rib thoracic dysplasia 10 with or without polydactyly | HP:0040283 - Occasional | | | 48 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | IFT74 CL E G H | 80173 | 21424 | OMIM:619582 | JOUBERT SYNDROME 40; JBTS40 | | | | 3 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | INPP5E CL E G H | 56623 | 21474 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 111 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | INPP5E CL E G H | 56623 | 21474 | OMIM:213300 | Joubert syndrome 1 | | | | 111 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | INPP5E CL E G H | 56623 | 21474 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040281 - Very frequent | | | 111 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | INPP5E CL E G H | 56623 | 21474 | ORPHA:220493 | Joubert syndrome with ocular defect | HP:0040281 - Very frequent | | | 111 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | ITPR1 CL E G H | 3708 | 6180 | ORPHA:208513 | Spinocerebellar ataxia type 29 | HP:0040282 - Frequent | | | 177 | | |
HP:0002186 | HP:0011098 | Speech apraxia | 1 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363958 | 17q21.31 microdeletion syndrome | HP:0040283 - Occasional | | | 283 | | |
HP:0002186 | HP:0011098 | Speech apraxia | 1 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363965 | Koolen-De Vries syndrome due to a point mutation | HP:0040283 - Occasional | | | 283 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | KATNIP CL E G H | 23247 | 29068 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | KCNH1 CL E G H | 3756 | 6250 | OMIM:135500 | Zimmermann-Laband syndrome 1 | | | | 13 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | KDM1A CL E G H | 23028 | 29079 | OMIM:616728 | Cleft palate, psychomotor retardation, and distinctive facial features | | | | 3 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | KDM1A CL E G H | 23028 | 29079 | ORPHA:477993 | Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0002186 | HP:0011098 | Speech apraxia | 1 | KDM6B CL E G H | 23135 | 29012 | OMIM:618505 | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities | . | | | 9 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | KIAA0586 CL E G H | 9786 | 19960 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 24 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | KIAA0586 CL E G H | 9786 | 19960 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | HP:0040282 - Frequent | | | 24 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | KIAA0753 CL E G H | 9851 | 29110 | OMIM:619476 | JOUBERT SYNDROME 38; JBTS38 | | | | 4 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | LAMA1 CL E G H | 284217 | 6481 | ORPHA:370022 | Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome | HP:0040282 - Frequent | | | 35 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | LAMA1 CL E G H | 284217 | 6481 | OMIM:615960 | Poretti-Boltshauser syndrome | . | | | 35 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | MAPK1 CL E G H | 5594 | 6871 | ORPHA:261330 | Distal 22q11.2 microdeletion syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0002186 | HP:0030217 | Limb apraxia | 1 | MAPT CL E G H | 4137 | 6893 | ORPHA:240103 | Progressive supranuclear palsy-corticobasal syndrome | HP:0040281 - Very frequent | | | 140 | | |
HP:0002186 | HP:0030217 | Limb apraxia | 1 | MAPT CL E G H | 4137 | 6893 | ORPHA:240112 | Progressive supranuclear palsy-progressive non-fluent aphasia syndrome | HP:0040283 - Occasional | | | 140 | | |
HP:0002186 | HP:0011098 | Speech apraxia | 1 | MAPT CL E G H | 4137 | 6893 | ORPHA:240112 | Progressive supranuclear palsy-progressive non-fluent aphasia syndrome | HP:0040281 - Very frequent | | | 140 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | MAPT CL E G H | 4137 | 6893 | ORPHA:240094 | Progressive supranuclear palsy-pure akinesia with gait freezing syndrome | HP:0040284 - Very rare | | | 140 | | |
HP:0002186 | HP:0000658 | Eyelid apraxia | 1 | MAPT CL E G H | 4137 | 6893 | OMIM:601104 | Supranuclear palsy, progressive, 1 | . | | | 140 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | MAST1 CL E G H | 22983 | 19034 | OMIM:618273 | Mega-Corpus-Callosum syndrome with cerebellar hypoplasia and cortical malformations | HP:0040284 - Very rare | | | 1 | | |
HP:0002186 | HP:0032588 | Hand apraxia | 1 | MECP2 CL E G H | 4204 | 6990 | ORPHA:3095 | Atypical Rett syndrome | HP:0040282 - Frequent | | | 950 | | |
HP:0002186 | HP:0010521 | Gait apraxia | 1 | MECP2 CL E G H | 4204 | 6990 | OMIM:312750 | Rett syndrome | . | | | 950 | | |
HP:0002186 | HP:0030217 | Limb apraxia | 1 | MECP2 CL E G H | 4204 | 6990 | ORPHA:778 | Rett syndrome | HP:0040282 - Frequent | | | 950 | | |
HP:0002186 | HP:0011098 | Speech apraxia | 1 | MED13 CL E G H | 9969 | 22474 | OMIM:618009 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD61 | | | | 4 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | MKS1 CL E G H | 54903 | 7121 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 127 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | MKS1 CL E G H | 54903 | 7121 | OMIM:617121 | JOUBERT SYNDROME 28; JBTS28 | | | | 127 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | MKS1 CL E G H | 54903 | 7121 | ORPHA:220493 | Joubert syndrome with ocular defect | HP:0040281 - Very frequent | | | 127 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | MRE11 CL E G H | 4361 | 7230 | ORPHA:251347 | Ataxia-telangiectasia-like disorder | HP:0040282 - Frequent | | | 532 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | MRE11 CL E G H | 4361 | 7230 | OMIM:604391 | Ataxia-Telangiectasia-Like disorder 1 | . | | | 532 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | MYO9A CL E G H | 4649 | 7608 | OMIM:618198 | Myasthenic syndrome, congenital, 24, presynaptic | . | | | | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | NGLY1 CL E G H | 55768 | 17646 | ORPHA:404454 | Alacrimia-choreoathetosis-liver dysfunction syndrome | HP:0040283 - Occasional | | | 32 | | |
HP:0002186 | HP:0007301 | Oromotor apraxia | 1 | NODAL CL E G H | 4838 | 7865 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 45 | | |
HP:0002186 | HP:0007301 | Oromotor apraxia | 1 | NODAL CL E G H | 4838 | 7865 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 45 | | |
HP:0002186 | HP:0007301 | Oromotor apraxia | 1 | NODAL CL E G H | 4838 | 7865 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 45 | | |
HP:0002186 | HP:0007301 | Oromotor apraxia | 1 | NODAL CL E G H | 4838 | 7865 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 45 | | |
HP:0002186 | HP:0011098 | Speech apraxia | 1 | NONO CL E G H | 4841 | 7871 | ORPHA:466791 | Macrocephaly-intellectual disability-left ventricular non compaction syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0002186 | HP:0011098 | Speech apraxia | 1 | NONO CL E G H | 4841 | 7871 | OMIM:300967 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34 | | | | 10 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | NPHP1 CL E G H | 4867 | 7905 | OMIM:609583 | Joubert syndrome 4 | . | | | 85 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | NPHP1 CL E G H | 4867 | 7905 | ORPHA:220497 | Joubert syndrome with renal defect | HP:0040281 - Very frequent | | | 85 | | |
HP:0002186 | HP:0032588 | Hand apraxia | 1 | NTNG1 CL E G H | 22854 | 23319 | ORPHA:3095 | Atypical Rett syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0002186 | HP:0011098 | Speech apraxia | 1 | PACS1 CL E G H | 55690 | 30032 | OMIM:615009 | Schuurs-Hoeijmakers syndrome | | | | 24 | | |
HP:0002186 | HP:0000658 | Eyelid apraxia | 1 | PANK2 CL E G H | 80025 | 15894 | OMIM:234200 | Neurodegeneration with brain iron accumulation 1 | . | | | 55 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | PDE6D CL E G H | 5147 | 8788 | OMIM:615665 | Joubert syndrome 22 | | | | 1 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | PEX2 CL E G H | 5828 | 9717 | OMIM:614867 | Peroxisome biogenesis disorder 5B | . | | | 82 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | PGAP2 CL E G H | 27315 | 17893 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | PGAP3 CL E G H | 93210 | 23719 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040283 - Occasional | | | 20 | | |
HP:0002186 | HP:0007301 | Oromotor apraxia | 1 | PI4KA CL E G H | 5297 | 8983 | ORPHA:98889 | Bilateral perisylvian polymicrogyria | HP:0040283 - Occasional | | | 11 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | PIBF1 CL E G H | 10464 | 23352 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | PIBF1 CL E G H | 10464 | 23352 | OMIM:617767 | Joubert syndrome 33 | . | | | 4 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | PIGL CL E G H | 9487 | 8966 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040283 - Occasional | | | 36 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | PIGO CL E G H | 84720 | 23215 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040283 - Occasional | | | 84 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | PIGV CL E G H | 55650 | 26031 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040283 - Occasional | | | 57 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | PIGW CL E G H | 284098 | 23213 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | PIGY CL E G H | 84992 | 28213 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | PIK3R5 CL E G H | 23533 | 30035 | OMIM:615217 | Ataxia-Oculomotor apraxia 3 | . | | | 11 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | PIK3R5 CL E G H | 23533 | 30035 | ORPHA:64753 | Spinocerebellar ataxia with axonal neuropathy type 2 | HP:0040282 - Frequent | | | 11 | | |
HP:0002186 | HP:0000658 | Eyelid apraxia | 1 | PLA2G6 CL E G H | 8398 | 9039 | ORPHA:199351 | Adult-onset dystonia-parkinsonism | HP:0040282 - Frequent | | | 133 | | |
HP:0002186 | HP:0000658 | Eyelid apraxia | 1 | PLA2G6 CL E G H | 8398 | 9039 | OMIM:612953 | Parkinson disease 14, autosomal recessive | | | | 133 | | |
HP:0002186 | HP:0007301 | Oromotor apraxia | 1 | PLCH1 CL E G H | 23007 | 29185 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | | | |
HP:0002186 | HP:0032588 | Hand apraxia | 1 | PLP1 CL E G H | 5354 | 9086 | ORPHA:280229 | Pelizaeus-Merzbacher disease in female carriers | HP:0040283 - Occasional | | | 60 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | PMPCA CL E G H | 23203 | 18667 | ORPHA:1170 | Autosomal recessive cerebelloparenchymal disorder type 3 | HP:0040282 - Frequent | | | 7 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | PNKP CL E G H | 11284 | 9154 | OMIM:616267 | Ataxia-Oculomotor apraxia 4 | . | | | 244 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | PNKP CL E G H | 11284 | 9154 | ORPHA:459033 | Ataxia-oculomotor apraxia type 4 | HP:0040282 - Frequent | | | 244 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | PNPT1 CL E G H | 87178 | 23166 | OMIM:608703 | Spinocerebellar ataxia 25 | | | | 60 | | |
HP:0002186 | HP:0011098 | Speech apraxia | 1 | POU4F1 CL E G H | 5457 | 9218 | OMIM:619352 | ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET; ATITHS | | | | | | |
HP:0002186 | HP:0011098 | Speech apraxia | 1 | PRKAR1B CL E G H | 5575 | 9390 | OMIM:619680 | MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS | | | | 2 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | PSEN1 CL E G H | 5663 | 9508 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | HP:0040283 - Occasional | | | 241 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | PSEN2 CL E G H | 5664 | 9509 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | HP:0040283 - Occasional | | | 59 | | |
HP:0002186 | HP:0007301 | Oromotor apraxia | 1 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 665 | | |
HP:0002186 | HP:0007301 | Oromotor apraxia | 1 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 665 | | |
HP:0002186 | HP:0007301 | Oromotor apraxia | 1 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 665 | | |
HP:0002186 | HP:0007301 | Oromotor apraxia | 1 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 665 | | |
HP:0002186 | HP:0011098 | Speech apraxia | 1 | PURA CL E G H | 5813 | 9701 | ORPHA:314655 | Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion | HP:0040283 - Occasional | | | 53 | | |
HP:0002186 | HP:0011098 | Speech apraxia | 1 | RAI1 CL E G H | 10743 | 9834 | ORPHA:1713 | 17p11.2 microduplication syndrome | HP:0040282 - Frequent | | | 150 | | |
HP:0002186 | HP:0011098 | Speech apraxia | 1 | RNF135 CL E G H | 84282 | 21158 | ORPHA:137634 | Overgrowth-macrocephaly-facial dysmorphism syndrome | HP:0040283 - Occasional | | | 11 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | RORA CL E G H | 6095 | 10258 | OMIM:618060 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA | | | | 1 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | RPGRIP1L CL E G H | 23322 | 29168 | OMIM:619113 | COACH SYNDROME 3; COACH3 | | | | 167 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | RPGRIP1L CL E G H | 23322 | 29168 | OMIM:611560 | Joubert syndrome 7 | . | | | 167 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040281 - Very frequent | | | 167 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:220497 | Joubert syndrome with renal defect | HP:0040281 - Very frequent | | | 167 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | SETX CL E G H | 23064 | 445 | ORPHA:64753 | Spinocerebellar ataxia with axonal neuropathy type 2 | HP:0040282 - Frequent | | | 162 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | SETX CL E G H | 23064 | 445 | OMIM:606002 | Spinocerebellar ataxia, autosomal recessive 1 | | | | 162 | | |
HP:0002186 | HP:0011098 | Speech apraxia | 1 | SH2B1 CL E G H | 25970 | 30417 | ORPHA:261197 | Proximal 16p11.2 microdeletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0002186 | HP:0007301 | Oromotor apraxia | 1 | SHH CL E G H | 6469 | 10848 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 67 | | |
HP:0002186 | HP:0007301 | Oromotor apraxia | 1 | SHH CL E G H | 6469 | 10848 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 67 | | |
HP:0002186 | HP:0007301 | Oromotor apraxia | 1 | SHH CL E G H | 6469 | 10848 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 67 | | |
HP:0002186 | HP:0007301 | Oromotor apraxia | 1 | SHH CL E G H | 6469 | 10848 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 67 | | |
HP:0002186 | HP:0007301 | Oromotor apraxia | 1 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0002186 | HP:0007301 | Oromotor apraxia | 1 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0002186 | HP:0007301 | Oromotor apraxia | 1 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0002186 | HP:0007301 | Oromotor apraxia | 1 | SIX3 CL E G H | 6496 | 10889 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | SLC1A3 CL E G H | 6507 | 10941 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040283 - Occasional | | | 63 | | |
HP:0002186 | HP:0011098 | Speech apraxia | 1 | SLC25A15 CL E G H | 10166 | 10985 | ORPHA:415 | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | HP:0040282 - Frequent | | | 88 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | SLC30A9 CL E G H | 10463 | 1329 | OMIM:617595 | Birk-Landau-Perez syndrome | . | | | 1 | | |
HP:0002186 | HP:0011098 | Speech apraxia | 1 | SLC6A8 CL E G H | 6535 | 11055 | OMIM:300352 | Creatine deficiency syndrome, X-linked | | | | 122 | | |
HP:0002186 | HP:0032588 | Hand apraxia | 1 | SMC1A CL E G H | 8243 | 11111 | ORPHA:3095 | Atypical Rett syndrome | HP:0040282 - Frequent | | | 135 | | |
HP:0002186 | HP:0007301 | Oromotor apraxia | 1 | SMC1A CL E G H | 8243 | 11111 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 135 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | SORL1 CL E G H | 6653 | 11185 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | HP:0040283 - Occasional | | | 3 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | SOX3 CL E G H | 6658 | 11199 | ORPHA:67045 | X-linked intellectual disability with isolated growth hormone deficiency | HP:0040283 - Occasional | | | 24 | | |
HP:0002186 | HP:0011098 | Speech apraxia | 1 | SPART CL E G H | 23111 | 18514 | ORPHA:101000 | Autosomal recessive spastic paraplegia type 20 | HP:0040283 - Occasional | | | 66 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | SPR CL E G H | 6697 | 11257 | OMIM:612716 | Dystonia, dopa-responsive, due to sepiapterin reductase deficiency | . | | | 28 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | SQSTM1 CL E G H | 8878 | 11280 | OMIM:617145 | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | . | | | 62 | | |
HP:0002186 | HP:0011098 | Speech apraxia | 1 | SRCAP CL E G H | 10847 | 16974 | ORPHA:2044 | Floating-Harbor syndrome | HP:0040281 - Very frequent | | | 138 | | |
HP:0002186 | HP:0007301 | Oromotor apraxia | 1 | SRPX2 CL E G H | 27286 | 30668 | ORPHA:98889 | Bilateral perisylvian polymicrogyria | HP:0040283 - Occasional | | | 50 | | |
HP:0002186 | HP:0011098 | Speech apraxia | 1 | SRPX2 CL E G H | 27286 | 30668 | OMIM:300643 | Rolandic epilepsy, mental retardation, and speech dyspraxia | . | | | 50 | | |
HP:0002186 | HP:0011098 | Speech apraxia | 1 | SRPX2 CL E G H | 27286 | 30668 | ORPHA:163721 | Rolandic epilepsy-speech dyspraxia syndrome | HP:0040281 - Very frequent | | | 50 | | |
HP:0002186 | HP:0007301 | Oromotor apraxia | 1 | STAG2 CL E G H | 10735 | 11355 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 1 | | |
HP:0002186 | HP:0007301 | Oromotor apraxia | 1 | STAG2 CL E G H | 10735 | 11355 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 1 | | |
HP:0002186 | HP:0007301 | Oromotor apraxia | 1 | STIL CL E G H | 6491 | 10879 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 99 | | |
HP:0002186 | HP:0007301 | Oromotor apraxia | 1 | STIL CL E G H | 6491 | 10879 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 99 | | |
HP:0002186 | HP:0007301 | Oromotor apraxia | 1 | STIL CL E G H | 6491 | 10879 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 99 | | |
HP:0002186 | HP:0007301 | Oromotor apraxia | 1 | STIL CL E G H | 6491 | 10879 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 99 | | |
HP:0002186 | HP:0011098 | Speech apraxia | 1 | STUB1 CL E G H | 10273 | 11427 | ORPHA:412057 | Autosomal recessive cerebellar ataxia due to STUB1 deficiency | HP:0040283 - Occasional | | | 14 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | STUB1 CL E G H | 10273 | 11427 | ORPHA:412057 | Autosomal recessive cerebellar ataxia due to STUB1 deficiency | HP:0040284 - Very rare | | | 14 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | SUFU CL E G H | 51684 | 16466 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 124 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | SUFU CL E G H | 51684 | 16466 | OMIM:617757 | Joubert syndrome 32 | . | | | 124 | | |
HP:0002186 | HP:0000658 | Eyelid apraxia | 1 | SYNJ1 CL E G H | 8867 | 11503 | OMIM:615530 | Parkinson disease 20, early-onset | . | | | 9 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | TCTN1 CL E G H | 79600 | 26113 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 45 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | TCTN2 CL E G H | 79867 | 25774 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 76 | | |
HP:0002186 | HP:0007301 | Oromotor apraxia | 1 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 1 | | |
HP:0002186 | HP:0007301 | Oromotor apraxia | 1 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 1 | | |
HP:0002186 | HP:0007301 | Oromotor apraxia | 1 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 1 | | |
HP:0002186 | HP:0007301 | Oromotor apraxia | 1 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 1 | | |
HP:0002186 | HP:0007301 | Oromotor apraxia | 1 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0002186 | HP:0007301 | Oromotor apraxia | 1 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0002186 | HP:0007301 | Oromotor apraxia | 1 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0002186 | HP:0007301 | Oromotor apraxia | 1 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | TMEM107 CL E G H | 84314 | 28128 | OMIM:617562 | Meckel syndrome 13 | . | | | 4 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | TMEM107 CL E G H | 84314 | 28128 | OMIM:617563 | Orofaciodigital syndrome XVI | . | | | 4 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | TMEM138 CL E G H | 51524 | 26944 | OMIM:614465 | JOUBERT SYNDROME 16; JBTS16 | | | | 39 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | TMEM216 CL E G H | 51259 | 25018 | OMIM:608091 | Joubert syndrome 2 | . | | | 45 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | TMEM218 CL E G H | 219854 | 27344 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | TMEM218 CL E G H | 219854 | 27344 | OMIM:619562 | JOUBERT SYNDROME 39; JBTS39 | | | | | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | TMEM231 CL E G H | 79583 | 37234 | OMIM:614970 | Joubert syndrome 20 | HP:0040280 - Obligate | | | 33 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:2752 | Orofaciodigital syndrome type 3 | HP:0040282 - Frequent | | | 33 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 82 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:220497 | Joubert syndrome with renal defect | HP:0040281 - Very frequent | | | 82 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | TMEM67 CL E G H | 91147 | 28396 | OMIM:216360 | Coach syndrome 1 | | | | 166 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 166 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | TMEM67 CL E G H | 91147 | 28396 | OMIM:610688 | Joubert syndrome 6 | . | | | 166 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040281 - Very frequent | | | 166 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | TOE1 CL E G H | 114034 | 15954 | OMIM:614969 | Pontocerebellar hypoplasia, type 7 | . | | | 6 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | TOGARAM1 CL E G H | 23116 | 19959 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | TOGARAM1 CL E G H | 23116 | 19959 | OMIM:619185 | JOUBERT SYNDROME 37; JBTS37 | | | | | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | TOMM40 CL E G H | 10452 | 18001 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | HP:0040283 - Occasional | | | | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | TPP1 CL E G H | 1200 | 2073 | ORPHA:284324 | Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia | HP:0040282 - Frequent | | | 203 | | |
HP:0002186 | HP:0011098 | Speech apraxia | 1 | TRAPPC11 CL E G H | 60684 | 25751 | OMIM:615356 | Muscular dystrophy, limb-girdle, autosomal recessive 18 | . | | | 27 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | TREM2 CL E G H | 54209 | 17761 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | HP:0040283 - Occasional | | | 31 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | TREM2 CL E G H | 54209 | 17761 | ORPHA:2770 | Nasu-Hakola disease | HP:0040282 - Frequent | | | 31 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | TUBA1A CL E G H | 7846 | 20766 | ORPHA:467166 | Tubulinopathy-associated dysgyria | | | | 106 | | |
HP:0002186 | HP:0007301 | Oromotor apraxia | 1 | TUBB2B CL E G H | 347733 | 30829 | ORPHA:300573 | Polymicrogyria due to TUBB2B mutation | HP:0040283 - Occasional | | | 39 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | TUBB2B CL E G H | 347733 | 30829 | ORPHA:467166 | Tubulinopathy-associated dysgyria | | | | 39 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | TUBB3 CL E G H | 10381 | 20772 | ORPHA:300570 | Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation | HP:0040283 - Occasional | | | 64 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | TUBB3 CL E G H | 10381 | 20772 | ORPHA:467166 | Tubulinopathy-associated dysgyria | | | | 64 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | TYROBP CL E G H | 7305 | 12449 | ORPHA:2770 | Nasu-Hakola disease | HP:0040282 - Frequent | | | 22 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | UFC1 CL E G H | 51506 | 26941 | OMIM:618076 | Neurodevelopmental disorder with spasticity and poor growth | . | | | | | |
HP:0002186 | HP:0011098 | Speech apraxia | 1 | USP7 CL E G H | 7874 | 12630 | OMIM:616863 | Chromosome 16p13.2 deletion syndrome | . | | | 2 | | |
HP:0002186 | HP:0007301 | Oromotor apraxia | 1 | VPS11 CL E G H | 55823 | 14583 | ORPHA:466934 | VPS11-related autosomal recessive hypomyelinating leukodystrophy | HP:0040282 - Frequent | | | 1 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | XRCC1 CL E G H | 7515 | 12828 | OMIM:617633 | Spinocerebellar ataxia, autosomal recessive 26 | . | | | 4 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | ZC4H2 CL E G H | 55906 | 24931 | ORPHA:3454 | Intellectual disability-developmental delay-contractures syndrome | HP:0040281 - Very frequent | | | 19 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | ZC4H2 CL E G H | 55906 | 24931 | OMIM:314580 | Wieacker-Wolff syndrome | HP:0040283 - Occasional | | | 19 | | |
HP:0002186 | HP:0000657 | Oculomotor apraxia | 1 | ZC4H2 CL E G H | 55906 | 24931 | OMIM:301041 | WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR | | | | 19 | | |
HP:0002186 | HP:0007301 | Oromotor apraxia | 1 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 34 | | |
HP:0002186 | HP:0007301 | Oromotor apraxia | 1 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 34 | | |
HP:0002186 | HP:0007301 | Oromotor apraxia | 1 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 34 | | |
HP:0002186 | HP:0007301 | Oromotor apraxia | 1 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 34 | | |