Human Phenotype Ontology 
Grandparent Node:
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Abnormality of higher mental function (HP:0011446)help
Parent Node:
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Neurological speech impairment (HP:0002167)help
..Starting node
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Dysarthria (HP:0001260)help
Term ID: 1260
Name: Dysarthria
Synonym: Difficulty articulating speech; Dysarthric speech
Definition: Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.
Comments:
Reference: HP:0001260
Genes and Diseases:
 
       Child Nodes:
........expandSpastic dysarthria (HP:0002464) help
........expandPseudobulbar paralysis (HP:0007024) help
........expandNasal, dysarthic speech (HP:0008376) help

 Sister Nodes: 
..expandAbsent speech (HP:0001344) help
..expandAlexia (HP:0010523) help
..expandAnarthria (HP:0002425) help
..expandAnomic aphasia (HP:0030784) help
..expandAphasia (HP:0002381) help
..expandDeficit in nonword repetition (HP:0002526) help
..expandDysgraphia (HP:0010526) help
..expandDysphasia (HP:0002357) help
..expandDysphonia (HP:0001618) help
..expandEcholalia (HP:0010529) help
..expandGrammar-specific speech disorder (HP:0006977) help
..expandIncomprehensible speech (HP:0002546) help
..expandLoss of speech (HP:0002371) help
..expandMutism (HP:0002300) help
..expandPalilalia (HP:0031814) help
..expandPoor speech (HP:0002465) help
..expandScanning speech (HP:0002168) help
..expandStuttering (HP:0025268) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001260HP:0001260Dysarthria0A2ML1 CL E G H144568648ORPHA191623336610627
HP:0001260HP:0001260Dysarthria0A2ML1 CL E G H144568648ORPHA178923336610627
HP:0001260HP:0001260Dysarthria0AAAS CL E G H8086231550Glucocorticoid deficiency with achalasia231550C0271742OMIM117413666605378
HP:0001260HP:0001260Dysarthria0AAAS CL E G H8086231550Glucocorticoid deficiency with achalasia231550C0271742OMIM116213666605378
HP:0001260HP:0001260Dysarthria0AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM133821022612035
HP:0001260HP:0001260Dysarthria0AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM138721022612035
HP:0001260HP:0001260Dysarthria0ABCB7 CL E G H22301310Anemia sideroblastic and spinocerebellar ataxia301310C1845028OMIM124648300135
HP:0001260HP:0001260Dysarthria0ABCB7 CL E G H22301310Anemia sideroblastic and spinocerebellar ataxia301310C1845028OMIM125148300135
HP:0001260HP:0001260Dysarthria0ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM131415868613599
HP:0001260HP:0001260Dysarthria0ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM138915868613599
HP:0001260HP:0001260Dysarthria0ADA2 CL E G H51816182410Idiopathic livedo reticularis with systemic involvement182410C0282492OMIM13901839607575
HP:0001260HP:0001260Dysarthria0ADA2 CL E G H51816182410Idiopathic livedo reticularis with systemic involvement182410C0282492OMIM13101839607575
HP:0001260HP:0001260Dysarthria0ADAR CL E G H103225154ORPHA1654225146920
HP:0001260HP:0001260Dysarthria0ADAR CL E G H103225154ORPHA1471225146920
HP:0001260HP:0001260Dysarthria0ADCY5 CL E G H111324588ORPHA1293236600293
HP:0001260HP:0001260Dysarthria0ADCY5 CL E G H111324588ORPHA1365236600293
HP:0001260HP:0001260Dysarthria0ADCY5 CL E G H111606703Dyskinesia, familial, with facial myokymia606703C1847627OMIM1365236600293
HP:0001260HP:0001260Dysarthria0ADCY5 CL E G H111606703Dyskinesia, familial, with facial myokymia606703C1847627OMIM1293236600293
HP:0001260HP:0001260Dysarthria0ADPRHL2 CL E G H54936618170NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES618170OMIM121304610624
HP:0001260HP:0001260Dysarthria0AFG3L2 CL E G H10939101109ORPHA1357315604581
HP:0001260HP:0001260Dysarthria0AFG3L2 CL E G H10939101109ORPHA1349315604581
HP:0001260HP:0001260Dysarthria0AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1349315604581
HP:0001260HP:0001260Dysarthria0AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1357315604581
HP:0001260HP:0001260Dysarthria0AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1357315604581
HP:0001260HP:0001260Dysarthria0AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1349315604581
HP:0001260HP:0001260Dysarthria0ALDH18A1 CL E G H5832447760ORPHA13469722138250
HP:0001260HP:0001260Dysarthria0ALDH18A1 CL E G H5832447760ORPHA13929722138250
HP:0001260HP:0001260Dysarthria0ALDH18A1 CL E G H5832601162Spastic paraplegia 9601162C1832669OMIM13469722138250
HP:0001260HP:0001260Dysarthria0ALDH18A1 CL E G H5832601162Spastic paraplegia 9601162C1832669OMIM13929722138250
HP:0001260HP:0001260Dysarthria0ALDH3A2 CL E G H224816ORPHA1475403609523
HP:0001260HP:0001260Dysarthria0ALDH3A2 CL E G H224816ORPHA1437403609523
HP:0001260HP:0001260Dysarthria0ALS2 CL E G H57679293168ORPHA1524443606352
HP:0001260HP:0001260Dysarthria0ALS2 CL E G H57679293168ORPHA1644443606352
HP:0001260HP:0001260Dysarthria0ALS2 CL E G H57679607225Infantile-onset ascending hereditary spastic paralysis607225C2931441OMIM1644443606352
HP:0001260HP:0001260Dysarthria0ALS2 CL E G H57679607225Infantile-onset ascending hereditary spastic paralysis607225C2931441OMIM1524443606352
HP:0001260HP:0001260Dysarthria0ALS2 CL E G H57679300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1524443606352
HP:0001260HP:0001260Dysarthria0ALS2 CL E G H57679300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1644443606352
HP:0001260HP:0001260Dysarthria0AMACR CL E G H23600614307Alpha-methylacyl-CoA racemase deficiency614307C3280428OMIM1164451604489
HP:0001260HP:0001260Dysarthria0AMACR CL E G H23600614307Alpha-methylacyl-CoA racemase deficiency614307C3280428OMIM1251451604489
HP:0001260HP:0001260Dysarthria0ANO10 CL E G H55129284289ORPHA121425519613726
HP:0001260HP:0001260Dysarthria0ANO10 CL E G H55129284289ORPHA122225519613726
HP:0001260HP:0001260Dysarthria0ANO10 CL E G H55129613728Spinocerebellar ataxia, autosomal recessive 10613728C3150998OMIM121425519613726
HP:0001260HP:0001260Dysarthria0ANO10 CL E G H55129613728Spinocerebellar ataxia, autosomal recessive 10613728C3150998OMIM122225519613726
HP:0001260HP:0001260Dysarthria0AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1189572607245
HP:0001260HP:0001260Dysarthria0AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1254572607245
HP:0001260HP:0001260Dysarthria0APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM125815984606350
HP:0001260HP:0001260Dysarthria0APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM123615984606350
HP:0001260HP:0001260Dysarthria0AR CL E G H367481ORPHA1525644313700
HP:0001260HP:0001260Dysarthria0AR CL E G H367481ORPHA1479644313700
HP:0001260HP:0001260Dysarthria0AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1479644313700
HP:0001260HP:0001260Dysarthria0AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1525644313700
HP:0001260HP:0001260Dysarthria0ARSA CL E G H410309271ORPHA1732713607574
HP:0001260HP:0001260Dysarthria0ARSA CL E G H410309263ORPHA1732713607574
HP:0001260HP:0001260Dysarthria0ARSA CL E G H410309256ORPHA1732713607574
HP:0001260HP:0001260Dysarthria0ARSA CL E G H410309271ORPHA1841713607574
HP:0001260HP:0001260Dysarthria0ARSA CL E G H410309263ORPHA1841713607574
HP:0001260HP:0001260Dysarthria0ARSA CL E G H410309256ORPHA1841713607574
HP:0001260HP:0001260Dysarthria0ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM1841713607574
HP:0001260HP:0001260Dysarthria0ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM1732713607574
HP:0001260HP:0001260Dysarthria0ARX CL E G H170302309510Partington X-linked mental retardation syndrome309510C0796250OMIM156518060300382
HP:0001260HP:0001260Dysarthria0ARX CL E G H170302309510Partington X-linked mental retardation syndrome309510C0796250OMIM162418060300382
HP:0001260HP:0001260Dysarthria0ATCAY CL E G H8530094122ORPHA1179779608179
HP:0001260HP:0001260Dysarthria0ATCAY CL E G H8530094122ORPHA1175779608179
HP:0001260HP:0001260Dysarthria0ATCAY CL E G H85300601238Cerebellar ataxia, Cayman type601238C1832585OMIM1175779608179
HP:0001260HP:0001260Dysarthria0ATCAY CL E G H85300601238Cerebellar ataxia, Cayman type601238C1832585OMIM1179779608179
HP:0001260HP:0001260Dysarthria0ATM CL E G H472100ORPHA111382795607585
HP:0001260HP:0001260Dysarthria0ATM CL E G H472100ORPHA110320795607585
HP:0001260HP:0001260Dysarthria0ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM111382795607585
HP:0001260HP:0001260Dysarthria0ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM110320795607585
HP:0001260HP:0001260Dysarthria0ATN1 CL E G H1822101ORPHA11033033607462
HP:0001260HP:0001260Dysarthria0ATN1 CL E G H1822101ORPHA1963033607462
HP:0001260HP:0001260Dysarthria0ATP13A2 CL E G H23400513436ORPHA148730213610513
HP:0001260HP:0001260Dysarthria0ATP13A2 CL E G H23400513436ORPHA160930213610513
HP:0001260HP:0001260Dysarthria0ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM160930213610513
HP:0001260HP:0001260Dysarthria0ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM148730213610513
HP:0001260HP:0001260Dysarthria0ATP13A2 CL E G H23400617225Spastic paraplegia 78, autosomal recessive617225C4310662OMIM160930213610513
HP:0001260HP:0001260Dysarthria0ATP13A2 CL E G H23400617225Spastic paraplegia 78, autosomal recessive617225C4310662OMIM148730213610513
HP:0001260HP:0001260Dysarthria0ATP1A2 CL E G H477602481Familial hemiplegic migraine type 2602481C1865322OMIM1726800182340
HP:0001260HP:0001260Dysarthria0ATP1A2 CL E G H477602481Familial hemiplegic migraine type 2602481C1865322OMIM1801800182340
HP:0001260HP:0001260Dysarthria0ATP1A3 CL E G H47871517ORPHA1687801182350
HP:0001260HP:0001260Dysarthria0ATP1A3 CL E G H47871517ORPHA1625801182350
HP:0001260HP:0001260Dysarthria0ATP1A3 CL E G H478614820Alternating hemiplegia of childhood 2614820C3553788OMIM1625801182350
HP:0001260HP:0001260Dysarthria0ATP1A3 CL E G H478614820Alternating hemiplegia of childhood 2614820C3553788OMIM1687801182350
HP:0001260HP:0001260Dysarthria0ATP1A3 CL E G H478601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss601338C1832466OMIM1625801182350
HP:0001260HP:0001260Dysarthria0ATP1A3 CL E G H478601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss601338C1832466OMIM1687801182350
HP:0001260HP:0001260Dysarthria0ATP1A3 CL E G H478128235Dystonia 12128235C1868681OMIM1687801182350
HP:0001260HP:0001260Dysarthria0ATP1A3 CL E G H478128235Dystonia 12128235C1868681OMIM1625801182350
HP:0001260HP:0001260Dysarthria0ATP2B3 CL E G H492302500Spinocerebellar ataxia, X-linked 1302500C0796205OMIM1292816300014
HP:0001260HP:0001260Dysarthria0ATP2B3 CL E G H492302500Spinocerebellar ataxia, X-linked 1302500C0796205OMIM1300816300014
HP:0001260HP:0001260Dysarthria0ATP7B CL E G H540905ORPHA11579870606882
HP:0001260HP:0001260Dysarthria0ATP7B CL E G H540905ORPHA11389870606882
HP:0001260HP:0001260Dysarthria0ATP7B CL E G H540277900Wilson disease277900C0019202OMIM11389870606882
HP:0001260HP:0001260Dysarthria0ATP7B CL E G H540277900Wilson disease277900C0019202OMIM11579870606882
HP:0001260HP:0001260Dysarthria0ATP8A2 CL E G H51761615268Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4615268C3808977OMIM112613533605870
HP:0001260HP:0001260Dysarthria0ATP8A2 CL E G H51761615268Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4615268C3808977OMIM119313533605870
HP:0001260HP:0001260Dysarthria0ATXN1 CL E G H631098755ORPHA17810548601556
HP:0001260HP:0001260Dysarthria0ATXN1 CL E G H631098755ORPHA17610548601556
HP:0001260HP:0001260Dysarthria0ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM17810548601556
HP:0001260HP:0001260Dysarthria0ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM17610548601556
HP:0001260HP:0001260Dysarthria0ATXN10 CL E G H2581498761ORPHA110110549611150
HP:0001260HP:0001260Dysarthria0ATXN10 CL E G H2581498761ORPHA19910549611150
HP:0001260HP:0001260Dysarthria0ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM19910549611150
HP:0001260HP:0001260Dysarthria0ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM110110549611150
HP:0001260HP:0001260Dysarthria0ATXN2 CL E G H631198756ORPHA15210555601517
HP:0001260HP:0001260Dysarthria0ATXN2 CL E G H631198756ORPHA15010555601517
HP:0001260HP:0001260Dysarthria0ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM15210555601517
HP:0001260HP:0001260Dysarthria0ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM15010555601517
HP:0001260HP:0001260Dysarthria0ATXN3 CL E G H4287276244ORPHA1447106607047
HP:0001260HP:0001260Dysarthria0ATXN3 CL E G H4287276238ORPHA1447106607047
HP:0001260HP:0001260Dysarthria0ATXN3 CL E G H4287276241ORPHA1447106607047
HP:0001260HP:0001260Dysarthria0ATXN7 CL E G H631494147ORPHA13910560607640
HP:0001260HP:0001260Dysarthria0ATXN7 CL E G H631494147ORPHA13710560607640
HP:0001260HP:0001260Dysarthria0ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0001260HP:0001260Dysarthria0ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM17610561603680
HP:0001260HP:0001260Dysarthria0ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM17210561603680
HP:0001260HP:0001260Dysarthria0AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM1177890600529
HP:0001260HP:0001260Dysarthria0AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM1145890600529
HP:0001260HP:0001260Dysarthria0B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM11694117601873
HP:0001260HP:0001260Dysarthria0B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM11484117601873
HP:0001260HP:0001260Dysarthria0BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM12791020603647
HP:0001260HP:0001260Dysarthria0BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM12491020603647
HP:0001260HP:0001260Dysarthria0BEAN1 CL E G H146227217012ORPHA13524160612051
HP:0001260HP:0001260Dysarthria0BEAN1 CL E G H146227117210Spinocerebellar ataxia 31117210C1861736OMIM13524160612051
HP:0001260HP:0001260Dysarthria0BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM14871052601248
HP:0001260HP:0001260Dysarthria0BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM14311052601248
HP:0001260HP:0001260Dysarthria0BRAF CL E G H673648ORPHA16801097164757
HP:0001260HP:0001260Dysarthria0BRAF CL E G H673648ORPHA16181097164757
HP:0001260HP:0001260Dysarthria0C12orf65 CL E G H91574613559Combined oxidative phosphorylation deficiency 7613559C3150801OMIM126784613541
HP:0001260HP:0001260Dysarthria0C19orf12 CL E G H83636289560ORPHA124025443614297
HP:0001260HP:0001260Dysarthria0C19orf12 CL E G H83636289560ORPHA124825443614297
HP:0001260HP:0001260Dysarthria0C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM124025443614297
HP:0001260HP:0001260Dysarthria0C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM124825443614297
HP:0001260HP:0001260Dysarthria0C19orf12 CL E G H83636615043Spastic paraplegia 43, autosomal recessive615043C2680446OMIM124025443614297
HP:0001260HP:0001260Dysarthria0C19orf12 CL E G H83636615043Spastic paraplegia 43, autosomal recessive615043C2680446OMIM124825443614297
HP:0001260HP:0001260Dysarthria0C9orf72 CL E G H203228275872ORPHA116128337614260
HP:0001260HP:0001260Dysarthria0C9orf72 CL E G H203228275872ORPHA116528337614260
HP:0001260HP:0001260Dysarthria0C9orf72 CL E G H203228105550Amyotrophic lateral sclerosis and/or frontotemporal dementia 1105550C1862937OMIM116528337614260
HP:0001260HP:0001260Dysarthria0C9orf72 CL E G H203228105550Amyotrophic lateral sclerosis and/or frontotemporal dementia 1105550C1862937OMIM116128337614260
HP:0001260HP:0001260Dysarthria0CA8 CL E G H767613227Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3613227C2750509OMIM1771382114815
HP:0001260HP:0001260Dysarthria0CA8 CL E G H767613227Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3613227C2750509OMIM1831382114815
HP:0001260HP:0001260Dysarthria0CACNA1A CL E G H77397ORPHA123261388601011
HP:0001260HP:0001260Dysarthria0CACNA1A CL E G H77397ORPHA120471388601011
HP:0001260HP:0001260Dysarthria0CACNA1A CL E G H773108500Episodic ataxia type 2108500C1720416OMIM123261388601011
HP:0001260HP:0001260Dysarthria0CACNA1A CL E G H773108500Episodic ataxia type 2108500C1720416OMIM120471388601011
HP:0001260HP:0001260Dysarthria0CACNA1A CL E G H773183086Spinocerebellar ataxia 6183086C0752124OMIM123261388601011
HP:0001260HP:0001260Dysarthria0CACNA1A CL E G H773183086Spinocerebellar ataxia 6183086C0752124OMIM120471388601011
HP:0001260HP:0001260Dysarthria0CACNA1G CL E G H8913458803ORPHA13571394604065
HP:0001260HP:0001260Dysarthria0CACNA1G CL E G H8913458803ORPHA13741394604065
HP:0001260HP:0001260Dysarthria0CACNB4 CL E G H785211067ORPHA13051404601949
HP:0001260HP:0001260Dysarthria0CACNB4 CL E G H785211067ORPHA13001404601949
HP:0001260HP:0001260Dysarthria0CACNB4 CL E G H785613855Episodic ataxia, type 5613855C1866039OMIM13001404601949
HP:0001260HP:0001260Dysarthria0CACNB4 CL E G H785613855Episodic ataxia, type 5613855C1866039OMIM13051404601949
HP:0001260HP:0001260Dysarthria0CAMTA1 CL E G H23261314647ORPHA128418806611501
HP:0001260HP:0001260Dysarthria0CAMTA1 CL E G H23261314647ORPHA129818806611501
HP:0001260HP:0001260Dysarthria0CAMTA1 CL E G H23261614756Cerebellar ataxia, nonprogressive, with mental retardation614756C3553661OMIM128418806611501
HP:0001260HP:0001260Dysarthria0CAMTA1 CL E G H23261614756Cerebellar ataxia, nonprogressive, with mental retardation614756C3553661OMIM129818806611501
HP:0001260HP:0001260Dysarthria0CAPN1 CL E G H823488594ORPHA1841476114220
HP:0001260HP:0001260Dysarthria0CAPN1 CL E G H823488594ORPHA11001476114220
HP:0001260HP:0001260Dysarthria0CCDC88C CL E G H440193423275ORPHA125819967611204
HP:0001260HP:0001260Dysarthria0CCDC88C CL E G H440193423275ORPHA126519967611204
HP:0001260HP:0001260Dysarthria0CCDC88C CL E G H440193616053Spinocerebellar ataxia 40616053CN252333OMIM126519967611204
HP:0001260HP:0001260Dysarthria0CCDC88C CL E G H440193616053Spinocerebellar ataxia 40616053CN252333OMIM125819967611204
HP:0001260HP:0001260Dysarthria0CHCHD10 CL E G H400916275872ORPHA120515559615903
HP:0001260HP:0001260Dysarthria0CHCHD10 CL E G H400916275872ORPHA123015559615903
HP:0001260HP:0001260Dysarthria0CHCHD10 CL E G H400916615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2615911C4014648OMIM120515559615903
HP:0001260HP:0001260Dysarthria0CHCHD10 CL E G H400916615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2615911C4014648OMIM123015559615903
HP:0001260HP:0001260Dysarthria0CHD2 CL E G H11061942ORPHA113261917602119
HP:0001260HP:0001260Dysarthria0CHD2 CL E G H11061942ORPHA111631917602119
HP:0001260HP:0001260Dysarthria0CHD3 CL E G H1107618205SNIJDERS BLOK-CAMPEAU SYNDROME618205OMIM11561918602120
HP:0001260HP:0001260Dysarthria0CHD3 CL E G H1107618205SNIJDERS BLOK-CAMPEAU SYNDROME618205OMIM11411918602120
HP:0001260HP:0001260Dysarthria0CHMP2B CL E G H25978614696Amyotrophic lateral sclerosis 17614696C1836076OMIM111024537609512
HP:0001260HP:0001260Dysarthria0CHMP2B CL E G H25978614696Amyotrophic lateral sclerosis 17614696C1836076OMIM113024537609512
HP:0001260HP:0001260Dysarthria0CHRNA1 CL E G H1134608930Congenital myasthenic syndrome 1B, fast-channel608930C1837122OMIM13571955100690
HP:0001260HP:0001260Dysarthria0CHRNA1 CL E G H1134608930Congenital myasthenic syndrome 1B, fast-channel608930C1837122OMIM13161955100690
HP:0001260HP:0001260Dysarthria0CHRNA1 CL E G H1134601462Myasthenic syndrome, slow-channel congenital601462C0751885OMIM13161955100690
HP:0001260HP:0001260Dysarthria0CHRNA1 CL E G H1134601462Myasthenic syndrome, slow-channel congenital601462C0751885OMIM13571955100690
HP:0001260HP:0001260Dysarthria0CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM16731966100725
HP:0001260HP:0001260Dysarthria0CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM15991966100725
HP:0001260HP:0001260Dysarthria0CISD2 CL E G H4938563463ORPHA13824212611507
HP:0001260HP:0001260Dysarthria0CISD2 CL E G H4938563463ORPHA12624212611507
HP:0001260HP:0001260Dysarthria0CLN3 CL E G H1201204200Juvenile neuronal ceroid lipofuscinosis204200C0751383OMIM17662074607042
HP:0001260HP:0001260Dysarthria0CLN3 CL E G H1201204200Juvenile neuronal ceroid lipofuscinosis204200C0751383OMIM16822074607042
HP:0001260HP:0001260Dysarthria0COASY CL E G H80347397725ORPHA110729932609855
HP:0001260HP:0001260Dysarthria0COASY CL E G H80347397725ORPHA115029932609855
HP:0001260HP:0001260Dysarthria0COASY CL E G H80347615643Neurodegeneration with brain iron accumulation 6615643C3810230OMIM110729932609855
HP:0001260HP:0001260Dysarthria0COASY CL E G H80347615643Neurodegeneration with brain iron accumulation 6615643C3810230OMIM115029932609855
HP:0001260HP:0001260Dysarthria0COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM13642226603033
HP:0001260HP:0001260Dysarthria0COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM14182226603033
HP:0001260HP:0001260Dysarthria0COQ2 CL E G H27235227510ORPHA117125223609825
HP:0001260HP:0001260Dysarthria0COQ2 CL E G H27235227510ORPHA113725223609825
HP:0001260HP:0001260Dysarthria0COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM117125223609825
HP:0001260HP:0001260Dysarthria0COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM113725223609825
HP:0001260HP:0001260Dysarthria0COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM12632260602125
HP:0001260HP:0001260Dysarthria0COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM12472260602125
HP:0001260HP:0001260Dysarthria0COX15 CL E G H1355255241ORPHA12332263603646
HP:0001260HP:0001260Dysarthria0COX15 CL E G H1355255241ORPHA12162263603646
HP:0001260HP:0001260Dysarthria0COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM12332263603646
HP:0001260HP:0001260Dysarthria0COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM12162263603646
HP:0001260HP:0001260Dysarthria0CSTB CL E G H1476308ORPHA12412482601145
HP:0001260HP:0001260Dysarthria0CSTB CL E G H1476308ORPHA12242482601145
HP:0001260HP:0001260Dysarthria0CSTB CL E G H1476254800Unverricht-Lundborg syndrome254800C0751785OMIM12412482601145
HP:0001260HP:0001260Dysarthria0CSTB CL E G H1476254800Unverricht-Lundborg syndrome254800C0751785OMIM12242482601145
HP:0001260HP:0001260Dysarthria0CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM191826169613129
HP:0001260HP:0001260Dysarthria0CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM172926169613129
HP:0001260HP:0001260Dysarthria0CTSF CL E G H8722615362Ceroid lipofuscinosis, neuronal, 13615362C3715049OMIM11292531603539
HP:0001260HP:0001260Dysarthria0CTSF CL E G H8722615362Ceroid lipofuscinosis, neuronal, 13615362C3715049OMIM11402531603539
HP:0001260HP:0001260Dysarthria0CWF19L1 CL E G H55280453521ORPHA15925613616120
HP:0001260HP:0001260Dysarthria0CWF19L1 CL E G H55280616127Spinocerebellar ataxia, autosomal recessive 17616127C4015301OMIM15925613616120
HP:0001260HP:0001260Dysarthria0CYP7B1 CL E G H9420270800Spastic paraplegia 5A270800C1849115OMIM12392652603711
HP:0001260HP:0001260Dysarthria0CYP7B1 CL E G H9420270800Spastic paraplegia 5A270800C1849115OMIM12952652603711
HP:0001260HP:0001260Dysarthria0DAB1 CL E G H1600615945Spinocerebellar ataxia 37615945C3889636OMIM1802661603448
HP:0001260HP:0001260Dysarthria0DAB1 CL E G H1600615945Spinocerebellar ataxia 37615945C3889636OMIM1812661603448
HP:0001260HP:0001260Dysarthria0DCAF17 CL E G H800673464ORPHA125125784612515
HP:0001260HP:0001260Dysarthria0DCAF17 CL E G H800673464ORPHA122925784612515
HP:0001260HP:0001260Dysarthria0DCAF17 CL E G H80067241080Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities241080C0342286OMIM125125784612515
HP:0001260HP:0001260Dysarthria0DCAF17 CL E G H80067241080Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities241080C0342286OMIM122925784612515
HP:0001260HP:0001260Dysarthria0DCTN1 CL E G H1639168605Perry syndrome168605C1868594OMIM16932711601143
HP:0001260HP:0001260Dysarthria0DCTN1 CL E G H1639168605Perry syndrome168605C1868594OMIM15652711601143
HP:0001260HP:0001260Dysarthria0DCX CL E G H1641300067Lissencephaly, X-linked300067C1848199OMIM13572714300121
HP:0001260HP:0001260Dysarthria0DCX CL E G H1641300067Lissencephaly, X-linked300067C1848199OMIM13682714300121
HP:0001260HP:0001260Dysarthria0DDHD2 CL E G H23259320380ORPHA119229106615003
HP:0001260HP:0001260Dysarthria0DDHD2 CL E G H23259320380ORPHA123029106615003
HP:0001260HP:0001260Dysarthria0DDHD2 CL E G H23259615033Spastic paraplegia 54, autosomal recessive615033C3539495OMIM119229106615003
HP:0001260HP:0001260Dysarthria0DDHD2 CL E G H23259615033Spastic paraplegia 54, autosomal recessive615033C3539495OMIM123029106615003
HP:0001260HP:0001260Dysarthria0DMXL2 CL E G H23312616113Polyendocrine-polyneuropathy syndrome616113C4015261OMIM13062938612186
HP:0001260HP:0001260Dysarthria0DMXL2 CL E G H23312616113Polyendocrine-polyneuropathy syndrome616113C4015261OMIM11612938612186
HP:0001260HP:0001260Dysarthria0DNAJB6 CL E G H1004934516ORPHA138314888611332
HP:0001260HP:0001260Dysarthria0DNAJB6 CL E G H1004934516ORPHA134614888611332
HP:0001260HP:0001260Dysarthria0DNAJC6 CL E G H9829615528Parkinson disease 19a, juvenile-onset615528C3809811OMIM117315469608375
HP:0001260HP:0001260Dysarthria0DNAJC6 CL E G H9829615528Parkinson disease 19a, juvenile-onset615528C3809811OMIM121515469608375
HP:0001260HP:0001260Dysarthria0EBF3 CL E G H253738617330Hypotonia, ataxia, and delayed development syndrome617330C4310618OMIM119819087607407
HP:0001260HP:0001260Dysarthria0EBF3 CL E G H253738617330Hypotonia, ataxia, and delayed development syndrome617330C4310618OMIM119419087607407
HP:0001260HP:0001260Dysarthria0ECHS1 CL E G H1892255241ORPHA13013151602292
HP:0001260HP:0001260Dysarthria0ECHS1 CL E G H1892255241ORPHA12413151602292
HP:0001260HP:0001260Dysarthria0EEF2 CL E G H1938101112ORPHA11743214130610
HP:0001260HP:0001260Dysarthria0EEF2 CL E G H1938101112ORPHA11703214130610
HP:0001260HP:0001260Dysarthria0EEF2 CL E G H1938609306Spinocerebellar ataxia 26609306C1836395OMIM11743214130610
HP:0001260HP:0001260Dysarthria0EEF2 CL E G H1938609306Spinocerebellar ataxia 26609306C1836395OMIM11703214130610
HP:0001260HP:0001260Dysarthria0EIF2B1 CL E G H1967603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11033257606686
HP:0001260HP:0001260Dysarthria0EIF2B1 CL E G H1967603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11223257606686
HP:0001260HP:0001260Dysarthria0EIF2B2 CL E G H8892603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11043258606454
HP:0001260HP:0001260Dysarthria0EIF2B2 CL E G H8892603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11203258606454
HP:0001260HP:0001260Dysarthria0EIF2B3 CL E G H8891603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM1973259606273
HP:0001260HP:0001260Dysarthria0EIF2B3 CL E G H8891603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11253259606273
HP:0001260HP:0001260Dysarthria0EIF2B4 CL E G H8890603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11033260606687
HP:0001260HP:0001260Dysarthria0EIF2B4 CL E G H8890603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11293260606687
HP:0001260HP:0001260Dysarthria0EIF2B5 CL E G H8893603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM12833261603945
HP:0001260HP:0001260Dysarthria0EIF2B5 CL E G H8893603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM13353261603945
HP:0001260HP:0001260Dysarthria0ELOVL4 CL E G H67851955ORPHA121314415605512
HP:0001260HP:0001260Dysarthria0ELOVL4 CL E G H67851955ORPHA117814415605512
HP:0001260HP:0001260Dysarthria0ELOVL4 CL E G H6785133190Erythrokeratodermia with ataxia133190C1851481OMIM121314415605512
HP:0001260HP:0001260Dysarthria0ELOVL4 CL E G H6785133190Erythrokeratodermia with ataxia133190C1851481OMIM117814415605512
HP:0001260HP:0001260Dysarthria0ELOVL5 CL E G H60481423296ORPHA14921308611805
HP:0001260HP:0001260Dysarthria0ELOVL5 CL E G H60481423296ORPHA15221308611805
HP:0001260HP:0001260Dysarthria0ELOVL5 CL E G H60481615957Spinocerebellar ataxia 38615957C4014812OMIM14921308611805
HP:0001260HP:0001260Dysarthria0ELOVL5 CL E G H60481615957Spinocerebellar ataxia 38615957C4014812OMIM15221308611805
HP:0001260HP:0001260Dysarthria0ENTPD1 CL E G H953401810ORPHA1873363601752
HP:0001260HP:0001260Dysarthria0ENTPD1 CL E G H953401810ORPHA11153363601752
HP:0001260HP:0001260Dysarthria0ENTPD1 CL E G H953615683Spastic paraplegia 64, autosomal recessive615683C3810289OMIM1873363601752
HP:0001260HP:0001260Dysarthria0ENTPD1 CL E G H953615683Spastic paraplegia 64, autosomal recessive615683C3810289OMIM11153363601752
HP:0001260HP:0001260Dysarthria0ERCC2 CL E G H2068220295ORPHA14793434126340
HP:0001260HP:0001260Dysarthria0ERCC2 CL E G H2068220295ORPHA13603434126340
HP:0001260HP:0001260Dysarthria0ERCC3 CL E G H2071220295ORPHA12833435133510
HP:0001260HP:0001260Dysarthria0ERCC3 CL E G H2071220295ORPHA11863435133510
HP:0001260HP:0001260Dysarthria0ERCC4 CL E G H2072220295ORPHA15383436133520
HP:0001260HP:0001260Dysarthria0ERCC4 CL E G H2072220295ORPHA14693436133520
HP:0001260HP:0001260Dysarthria0ERCC5 CL E G H2073220295ORPHA13743437133530
HP:0001260HP:0001260Dysarthria0ERCC5 CL E G H2073220295ORPHA13613437133530
HP:0001260HP:0001260Dysarthria0ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM13433439609412
HP:0001260HP:0001260Dysarthria0ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM13103439609412
HP:0001260HP:0001260Dysarthria0ERLIN1 CL E G H10613401785ORPHA15916947611604
HP:0001260HP:0001260Dysarthria0ERLIN1 CL E G H10613401785ORPHA18416947611604
HP:0001260HP:0001260Dysarthria0EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM13293527601573
HP:0001260HP:0001260Dysarthria0EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM13643527601573
HP:0001260HP:0001260Dysarthria0FA2H CL E G H79152171629ORPHA127521197611026
HP:0001260HP:0001260Dysarthria0FA2H CL E G H79152171629ORPHA124121197611026
HP:0001260HP:0001260Dysarthria0FA2H CL E G H79152612319Spastic paraplegia 35612319C3668943OMIM127521197611026
HP:0001260HP:0001260Dysarthria0FA2H CL E G H79152612319Spastic paraplegia 35612319C3668943OMIM124121197611026
HP:0001260HP:0001260Dysarthria0FAM126A CL E G H84668610532Hypomyelination and Congenital Cataract610532C1864663OMIM125124587610531
HP:0001260HP:0001260Dysarthria0FAM126A CL E G H84668610532Hypomyelination and Congenital Cataract610532C1864663OMIM122524587610531
HP:0001260HP:0001260Dysarthria0FAT2 CL E G H2196617769SPINOCEREBELLAR ATAXIA 45617769C4540400OMIM11743596604269
HP:0001260HP:0001260Dysarthria0FAT2 CL E G H2196617769SPINOCEREBELLAR ATAXIA 45617769C4540400OMIM11693596604269
HP:0001260HP:0001260Dysarthria0FBXO7 CL E G H25793260300Parkinson disease 15260300C1850100OMIM116113586605648
HP:0001260HP:0001260Dysarthria0FBXO7 CL E G H25793260300Parkinson disease 15260300C1850100OMIM118313586605648
HP:0001260HP:0001260Dysarthria0FGF14 CL E G H225998764ORPHA11903671601515
HP:0001260HP:0001260Dysarthria0FGF14 CL E G H225998764ORPHA11873671601515
HP:0001260HP:0001260Dysarthria0FLRT1 CL E G H23769320406ORPHA11213760604806
HP:0001260HP:0001260Dysarthria0FLRT1 CL E G H23769320406ORPHA11263760604806
HP:0001260HP:0001260Dysarthria0FMR1 CL E G H233293256ORPHA13223775309550
HP:0001260HP:0001260Dysarthria0FMR1 CL E G H233293256ORPHA13173775309550
HP:0001260HP:0001260Dysarthria0FMR1 CL E G H2332300623Fragile X tremor/ataxia syndrome300623C1839780OMIM13173775309550
HP:0001260HP:0001260Dysarthria0FMR1 CL E G H2332300623Fragile X tremor/ataxia syndrome300623C1839780OMIM13223775309550
HP:0001260HP:0001260Dysarthria0FOXRED1 CL E G H55572255241ORPHA123126927613622
HP:0001260HP:0001260Dysarthria0FOXRED1 CL E G H55572255241ORPHA121026927613622
HP:0001260HP:0001260Dysarthria0FTL CL E G H2512606159Neuroferritinopathy606159C1853578OMIM11383999134790
HP:0001260HP:0001260Dysarthria0FTL CL E G H2512606159Neuroferritinopathy606159C1853578OMIM11093999134790
HP:0001260HP:0001260Dysarthria0FUS CL E G H2521275872ORPHA13234010137070
HP:0001260HP:0001260Dysarthria0FUS CL E G H2521275872ORPHA13394010137070
HP:0001260HP:0001260Dysarthria0FUS CL E G H2521300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA13234010137070
HP:0001260HP:0001260Dysarthria0FUS CL E G H2521300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA13394010137070
HP:0001260HP:0001260Dysarthria0FXN CL E G H239595ORPHA11313951606829
HP:0001260HP:0001260Dysarthria0FXN CL E G H2395229300Friedreich ataxia 1229300C1856689OMIM11313951606829
HP:0001260HP:0001260Dysarthria0GAN CL E G H8139256850Giant axonal neuropathy256850C1850386OMIM15334137605379
HP:0001260HP:0001260Dysarthria0GAN CL E G H8139256850Giant axonal neuropathy256850C1850386OMIM15944137605379
HP:0001260HP:0001260Dysarthria0GBA2 CL E G H57704614409Spastic paraplegia 46, autosomal recessive614409C2828721OMIM124618986609471
HP:0001260HP:0001260Dysarthria0GBA2 CL E G H57704614409Spastic paraplegia 46, autosomal recessive614409C2828721OMIM126218986609471
HP:0001260HP:0001260Dysarthria0GFPT1 CL E G H2673608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM14064241138292
HP:0001260HP:0001260Dysarthria0GFPT1 CL E G H2673608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM13744241138292
HP:0001260HP:0001260Dysarthria0GJA1 CL E G H26972710Hm syndromeORPHA11914274121014
HP:0001260HP:0001260Dysarthria0GJA1 CL E G H26972710Hm syndromeORPHA11694274121014
HP:0001260HP:0001260Dysarthria0GJA1 CL E G H2697164200Oculodentodigital dysplasia164200C0812437OMIM11914274121014
HP:0001260HP:0001260Dysarthria0GJA1 CL E G H2697164200Oculodentodigital dysplasia164200C0812437OMIM11694274121014
HP:0001260HP:0001260Dysarthria0GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM17324283304040
HP:0001260HP:0001260Dysarthria0GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM17714283304040
HP:0001260HP:0001260Dysarthria0GJC2 CL E G H57165320401ORPHA117417494608803
HP:0001260HP:0001260Dysarthria0GJC2 CL E G H57165320401ORPHA122117494608803
HP:0001260HP:0001260Dysarthria0GJC2 CL E G H57165608804Leukodystrophy, hypomyelinating, 2608804C1837355OMIM122117494608803
HP:0001260HP:0001260Dysarthria0GJC2 CL E G H57165608804Leukodystrophy, hypomyelinating, 2608804C1837355OMIM117417494608803
HP:0001260HP:0001260Dysarthria0GJC2 CL E G H57165613206Spastic paraplegia 44, autosomal recessive613206C2750784OMIM117417494608803
HP:0001260HP:0001260Dysarthria0GJC2 CL E G H57165613206Spastic paraplegia 44, autosomal recessive613206C2750784OMIM122117494608803
HP:0001260HP:0001260Dysarthria0GLRX5 CL E G H51218616859Spasticity, childhood-onset, with hyperglycinemia616859C4225178OMIM16820134609588
HP:0001260HP:0001260Dysarthria0GLRX5 CL E G H51218616859Spasticity, childhood-onset, with hyperglycinemia616859C4225178OMIM16020134609588
HP:0001260HP:0001260Dysarthria0GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM13404422607664
HP:0001260HP:0001260Dysarthria0GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM12774422607664
HP:0001260HP:0001260Dysarthria0GOSR2 CL E G H9570614018Epilepsy, progressive myoclonic 6614018C3279627OMIM12174431604027
HP:0001260HP:0001260Dysarthria0GOSR2 CL E G H9570614018Epilepsy, progressive myoclonic 6614018C3279627OMIM12524431604027
HP:0001260HP:0001260Dysarthria0GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM12274446603048
HP:0001260HP:0001260Dysarthria0GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM1954446603048
HP:0001260HP:0001260Dysarthria0GPT2 CL E G H84706477673ANO5-Related DisordersCN239193ORPHA17418062138210
HP:0001260HP:0001260Dysarthria0GPT2 CL E G H84706477673ANO5-Related DisordersCN239193ORPHA17618062138210
HP:0001260HP:0001260Dysarthria0GPT2 CL E G H84706616281Mental retardation, autosomal recessive 49616281C4225388OMIM17618062138210
HP:0001260HP:0001260Dysarthria0GPT2 CL E G H84706616281Mental retardation, autosomal recessive 49616281C4225388OMIM17418062138210
HP:0001260HP:0001260Dysarthria0GRID2 CL E G H2895616204Spinocerebellar ataxia, autosomal recessive 18616204C4015505OMIM11514576602368
HP:0001260HP:0001260Dysarthria0GRID2 CL E G H2895616204Spinocerebellar ataxia, autosomal recessive 18616204C4015505OMIM11444576602368
HP:0001260HP:0001260Dysarthria0GRM1 CL E G H2911617691SPINOCEREBELLAR ATAXIA 44617691C4521563OMIM11934593604473
HP:0001260HP:0001260Dysarthria0GRM1 CL E G H2911617691SPINOCEREBELLAR ATAXIA 44617691C4521563OMIM11864593604473
HP:0001260HP:0001260Dysarthria0GRM1 CL E G H2911614831Spinocerebellar ataxia, autosomal recessive 13614831C3553816OMIM11864593604473
HP:0001260HP:0001260Dysarthria0GRM1 CL E G H2911614831Spinocerebellar ataxia, autosomal recessive 13614831C3553816OMIM11934593604473
HP:0001260HP:0001260Dysarthria0GSS CL E G H2937266130Gluthathione synthetase deficiency266130C0398746OMIM11224624601002
HP:0001260HP:0001260Dysarthria0GSS CL E G H2937266130Gluthathione synthetase deficiency266130C0398746OMIM11444624601002
HP:0001260HP:0001260Dysarthria0HACE1 CL E G H57531464282ORPHA17621033610876
HP:0001260HP:0001260Dysarthria0HACE1 CL E G H57531464282ORPHA19121033610876
HP:0001260HP:0001260Dysarthria0HEPACAM CL E G H220296613925Megalencephalic leukoencephalopathy with subcortical cysts 2a613925C3151355OMIM120626361611642
HP:0001260HP:0001260Dysarthria0HEPACAM CL E G H220296613925Megalencephalic leukoencephalopathy with subcortical cysts 2a613925C3151355OMIM123126361611642
HP:0001260HP:0001260Dysarthria0HEXB CL E G H3074268800Sandhoff disease268800C0036161OMIM13614879606873
HP:0001260HP:0001260Dysarthria0HEXB CL E G H3074268800Sandhoff disease268800C0036161OMIM13974879606873
HP:0001260HP:0001260Dysarthria0HOXB1 CL E G H3211614744Hereditary congenital facial paresis 3614744C3553625OMIM1315111142968
HP:0001260HP:0001260Dysarthria0HPCA CL E G H320899657ORPHA1275144142622
HP:0001260HP:0001260Dysarthria0HPCA CL E G H3208224500Dystonia 2, torsion, autosomal recessive224500C1857093OMIM1275144142622
HP:0001260HP:0001260Dysarthria0HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13065157308000
HP:0001260HP:0001260Dysarthria0HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13205157308000
HP:0001260HP:0001260Dysarthria0HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12024800300256
HP:0001260HP:0001260Dysarthria0HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12134800300256
HP:0001260HP:0001260Dysarthria0HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM11649476602194
HP:0001260HP:0001260Dysarthria0HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM11969476602194
HP:0001260HP:0001260Dysarthria0IFRD1 CL E G H347598771ORPHA1515456603502
HP:0001260HP:0001260Dysarthria0IFRD1 CL E G H347598771ORPHA1505456603502
HP:0001260HP:0001260Dysarthria0INPP5K CL E G H51763559ORPHA115333882607875
HP:0001260HP:0001260Dysarthria0INPP5K CL E G H51763559ORPHA114533882607875
HP:0001260HP:0001260Dysarthria0IRF2BPL CL E G H64207618088NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES618088CN252701OMIM111614282611720
HP:0001260HP:0001260Dysarthria0IRF2BPL CL E G H64207618088NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES618088CN252701OMIM110914282611720
HP:0001260HP:0001260Dysarthria0ITPR1 CL E G H3708208513ORPHA19696180147265
HP:0001260HP:0001260Dysarthria0ITPR1 CL E G H3708208513ORPHA18956180147265
HP:0001260HP:0001260Dysarthria0ITPR1 CL E G H3708606658Spinocerebellar ataxia 15606658C1847725OMIM19696180147265
HP:0001260HP:0001260Dysarthria0ITPR1 CL E G H3708606658Spinocerebellar ataxia 15606658C1847725OMIM18956180147265
HP:0001260HP:0001260Dysarthria0ITPR1 CL E G H3708117360Spinocerebellar ataxia 29117360C1861732OMIM19696180147265
HP:0001260HP:0001260Dysarthria0ITPR1 CL E G H3708117360Spinocerebellar ataxia 29117360C1861732OMIM18956180147265
HP:0001260HP:0001260Dysarthria0JPH3 CL E G H57338606438Huntington disease-like 2606438C1847987OMIM112314203605268
HP:0001260HP:0001260Dysarthria0JPH3 CL E G H57338606438Huntington disease-like 2606438C1847987OMIM112214203605268
HP:0001260HP:0001260Dysarthria0KAT6B CL E G H23522648ORPHA148717582605880
HP:0001260HP:0001260Dysarthria0KAT6B CL E G H23522648ORPHA139617582605880
HP:0001260HP:0001260Dysarthria0KCNA1 CL E G H3736972ORPHA14386218176260
HP:0001260HP:0001260Dysarthria0KCNA1 CL E G H373637612ORPHA14386218176260
HP:0001260HP:0001260Dysarthria0KCNA1 CL E G H3736972ORPHA13906218176260
HP:0001260HP:0001260Dysarthria0KCNA1 CL E G H373637612ORPHA13906218176260
HP:0001260HP:0001260Dysarthria0KCNA1 CL E G H3736160120Episodic ataxia type 1160120C1719788OMIM14386218176260
HP:0001260HP:0001260Dysarthria0KCNA1 CL E G H3736160120Episodic ataxia type 1160120C1719788OMIM13906218176260
HP:0001260HP:0001260Dysarthria0KCNA4 CL E G H3739618284618284618284OMIM1316222176266
HP:0001260HP:0001260Dysarthria0KCNC3 CL E G H374898768ORPHA11666235176264
HP:0001260HP:0001260Dysarthria0KCNC3 CL E G H374898768ORPHA11266235176264
HP:0001260HP:0001260Dysarthria0KCNC3 CL E G H3748605259Spinocerebellar ataxia 13605259C1854488OMIM11666235176264
HP:0001260HP:0001260Dysarthria0KCNC3 CL E G H3748605259Spinocerebellar ataxia 13605259C1854488OMIM11266235176264
HP:0001260HP:0001260Dysarthria0KCND3 CL E G H3752607346Spinocerebellar ataxia 19607346C1846367OMIM12666239605411
HP:0001260HP:0001260Dysarthria0KCND3 CL E G H3752607346Spinocerebellar ataxia 19607346C1846367OMIM12336239605411
HP:0001260HP:0001260Dysarthria0KCTD17 CL E G H79734616398Dystonia 26, myoclonic616398C4225341OMIM18625705616386
HP:0001260HP:0001260Dysarthria0KCTD17 CL E G H79734616398Dystonia 26, myoclonic616398C4225341OMIM17825705616386
HP:0001260HP:0001260Dysarthria0KCTD7 CL E G H154881263516ORPHA130521957611725
HP:0001260HP:0001260Dysarthria0KCTD7 CL E G H154881263516ORPHA134821957611725
HP:0001260HP:0001260Dysarthria0KCTD7 CL E G H154881611726Epilepsy, progressive myoclonic 3611726C2673257OMIM134821957611725
HP:0001260HP:0001260Dysarthria0KCTD7 CL E G H154881611726Epilepsy, progressive myoclonic 3611726C2673257OMIM130521957611725
HP:0001260HP:0001260Dysarthria0KIF1C CL E G H10749397946ORPHA12866317603060
HP:0001260HP:0001260Dysarthria0KIF1C CL E G H10749397946ORPHA13356317603060
HP:0001260HP:0001260Dysarthria0KIF1C CL E G H10749611302Ataxia, spastic, 2, autosomal recessive611302C1969796OMIM13356317603060
HP:0001260HP:0001260Dysarthria0KIF1C CL E G H10749611302Ataxia, spastic, 2, autosomal recessive611302C1969796OMIM12866317603060
HP:0001260HP:0001260Dysarthria0KLC2 CL E G H64837320406ORPHA13120716611729
HP:0001260HP:0001260Dysarthria0KLC2 CL E G H64837320406ORPHA14520716611729
HP:0001260HP:0001260Dysarthria0KLC2 CL E G H64837609541Spastic paraplegia, optic atrophy, and neuropathy609541C1836010OMIM14520716611729
HP:0001260HP:0001260Dysarthria0KLC2 CL E G H64837609541Spastic paraplegia, optic atrophy, and neuropathy609541C1836010OMIM13120716611729
HP:0001260HP:0001260Dysarthria0KMT2B CL E G H9757617284Dystonia 28, childhood-onset617284C4310633OMIM145615840606834
HP:0001260HP:0001260Dysarthria0KMT2B CL E G H9757617284Dystonia 28, childhood-onset617284C4310633OMIM138415840606834
HP:0001260HP:0001260Dysarthria0KRAS CL E G H3845648ORPHA13416407190070
HP:0001260HP:0001260Dysarthria0KRAS CL E G H3845648ORPHA13316407190070
HP:0001260HP:0001260Dysarthria0LIPT1 CL E G H51601255241ORPHA19029569610284
HP:0001260HP:0001260Dysarthria0LIPT1 CL E G H51601255241ORPHA17329569610284
HP:0001260HP:0001260Dysarthria0LYRM7 CL E G H90624615838Mitochondrial complex III deficiency, nuclear type 8615838C4014440OMIM16328072615831
HP:0001260HP:0001260Dysarthria0LYRM7 CL E G H90624615838Mitochondrial complex III deficiency, nuclear type 8615838C4014440OMIM16628072615831
HP:0001260HP:0001260Dysarthria0LZTR1 CL E G H8216648ORPHA112786742600574
HP:0001260HP:0001260Dysarthria0LZTR1 CL E G H8216648ORPHA19566742600574
HP:0001260HP:0001260Dysarthria0MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM17906826609458
HP:0001260HP:0001260Dysarthria0MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM16536826609458
HP:0001260HP:0001260Dysarthria0MAPT CL E G H4137601104Progressive supranuclear ophthalmoplegia601104C0038868OMIM14656893157140
HP:0001260HP:0001260Dysarthria0MAPT CL E G H4137601104Progressive supranuclear ophthalmoplegia601104C0038868OMIM14886893157140
HP:0001260HP:0001260Dysarthria0MATR3 CL E G H9782600ORPHA12996912164015
HP:0001260HP:0001260Dysarthria0MATR3 CL E G H9782600ORPHA12496912164015
HP:0001260HP:0001260Dysarthria0MATR3 CL E G H9782606070Amyotrophic lateral sclerosis 21606070C3807521OMIM12996912164015
HP:0001260HP:0001260Dysarthria0MATR3 CL E G H9782606070Amyotrophic lateral sclerosis 21606070C3807521OMIM12496912164015
HP:0001260HP:0001260Dysarthria0MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM17319691608205
HP:0001260HP:0001260Dysarthria0MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM16019691608205
HP:0001260HP:0001260Dysarthria0MED13L CL E G H23389616789Mental retardation and distinctive facial features with or without cardiac defects616789C4225208OMIM159622962608771
HP:0001260HP:0001260Dysarthria0MED13L CL E G H23389616789Mental retardation and distinctive facial features with or without cardiac defects616789C4225208OMIM156622962608771
HP:0001260HP:0001260Dysarthria0MICOS13 CL E G H12598867047ORPHA12033702616658
HP:0001260HP:0001260Dysarthria0MICOS13 CL E G H12598867047ORPHA11933702616658
HP:0001260HP:0001260Dysarthria0MME CL E G H4311497764ORPHA11967154120520
HP:0001260HP:0001260Dysarthria0MME CL E G H4311497764ORPHA13427154120520
HP:0001260HP:0001260Dysarthria0MME CL E G H4311617018Spinocerebellar ataxia 43617018C4310763OMIM13427154120520
HP:0001260HP:0001260Dysarthria0MME CL E G H4311617018Spinocerebellar ataxia 43617018C4310763OMIM11967154120520
HP:0001260HP:0001260Dysarthria0MMUT CL E G H459479312ORPHA16847526609058
HP:0001260HP:0001260Dysarthria0MMUT CL E G H459479312ORPHA16117526609058
HP:0001260HP:0001260Dysarthria0MRE11 CL E G H4361251347ORPHA112597230600814
HP:0001260HP:0001260Dysarthria0MRE11 CL E G H4361251347ORPHA112587230600814
HP:0001260HP:0001260Dysarthria0MRE11 CL E G H4361604391Ataxia-telangiectasia-like disorder 1604391C1858391OMIM112587230600814
HP:0001260HP:0001260Dysarthria0MRE11 CL E G H4361604391Ataxia-telangiectasia-like disorder 1604391C1858391OMIM112597230600814
HP:0001260HP:0001260Dysarthria0MT-ATP6 CL E G H4508225154ORPHA17414516060
HP:0001260HP:0001260Dysarthria0MTFMT CL E G H123263255241ORPHA113229666611766
HP:0001260HP:0001260Dysarthria0MTFMT CL E G H123263255241ORPHA116229666611766
HP:0001260HP:0001260Dysarthria0MTPAP CL E G H55149254343ORPHA118025532613669
HP:0001260HP:0001260Dysarthria0MTPAP CL E G H55149254343ORPHA114525532613669
HP:0001260HP:0001260Dysarthria0MTPAP CL E G H55149613672Ataxia, spastic, 4, autosomal recessive613672C3150925OMIM114525532613669
HP:0001260HP:0001260Dysarthria0MTPAP CL E G H55149613672Ataxia, spastic, 4, autosomal recessive613672C3150925OMIM118025532613669
HP:0001260HP:0001260Dysarthria0MYOT CL E G H949998911ORPHA126712399604103
HP:0001260HP:0001260Dysarthria0MYOT CL E G H949998911ORPHA124612399604103
HP:0001260HP:0001260Dysarthria0NDUFA10 CL E G H4705255241ORPHA13367684603835
HP:0001260HP:0001260Dysarthria0NDUFA10 CL E G H4705255241ORPHA13597684603835
HP:0001260HP:0001260Dysarthria0NDUFA12 CL E G H55967255241ORPHA15323987614530
HP:0001260HP:0001260Dysarthria0NDUFA12 CL E G H55967255241ORPHA16423987614530
HP:0001260HP:0001260Dysarthria0NDUFA13 CL E G H51079255241ORPHA11817194609435
HP:0001260HP:0001260Dysarthria0NDUFA13 CL E G H51079255241ORPHA11917194609435
HP:0001260HP:0001260Dysarthria0NDUFA2 CL E G H4695255241ORPHA1717685602137
HP:0001260HP:0001260Dysarthria0NDUFA2 CL E G H4695255241ORPHA1747685602137
HP:0001260HP:0001260Dysarthria0NDUFA4 CL E G H4697255241ORPHA1707687603833
HP:0001260HP:0001260Dysarthria0NDUFA4 CL E G H4697255241ORPHA1737687603833
HP:0001260HP:0001260Dysarthria0NDUFA9 CL E G H4704255241ORPHA11497693603834
HP:0001260HP:0001260Dysarthria0NDUFA9 CL E G H4704255241ORPHA11727693603834
HP:0001260HP:0001260Dysarthria0NDUFA9 CL E G H4704618247MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26618247OMIM11727693603834
HP:0001260HP:0001260Dysarthria0NDUFA9 CL E G H4704618247MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26618247OMIM11497693603834
HP:0001260HP:0001260Dysarthria0NDUFAF2 CL E G H91942255241ORPHA110228086609653
HP:0001260HP:0001260Dysarthria0NDUFAF2 CL E G H91942255241ORPHA110928086609653
HP:0001260HP:0001260Dysarthria0NDUFAF5 CL E G H79133255241ORPHA122115899612360
HP:0001260HP:0001260Dysarthria0NDUFAF5 CL E G H79133255241ORPHA122815899612360
HP:0001260HP:0001260Dysarthria0NDUFAF5 CL E G H79133618238MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16618238OMIM122815899612360
HP:0001260HP:0001260Dysarthria0NDUFAF5 CL E G H79133618238MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16618238OMIM122115899612360
HP:0001260HP:0001260Dysarthria0NDUFAF6 CL E G H137682255241ORPHA116628625612392
HP:0001260HP:0001260Dysarthria0NDUFAF6 CL E G H137682255241ORPHA118528625612392
HP:0001260HP:0001260Dysarthria0NDUFAF6 CL E G H137682618239MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17618239OMIM118528625612392
HP:0001260HP:0001260Dysarthria0NDUFAF6 CL E G H137682618239MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17618239OMIM116628625612392
HP:0001260HP:0001260Dysarthria0NDUFS1 CL E G H4719255241ORPHA12637707157655
HP:0001260HP:0001260Dysarthria0NDUFS1 CL E G H4719255241ORPHA13017707157655
HP:0001260HP:0001260Dysarthria0NDUFS2 CL E G H4720255241ORPHA11397708602985
HP:0001260HP:0001260Dysarthria0NDUFS2 CL E G H4720255241ORPHA11607708602985
HP:0001260HP:0001260Dysarthria0NDUFS3 CL E G H4722255241ORPHA1777710603846
HP:0001260HP:0001260Dysarthria0NDUFS3 CL E G H4722255241ORPHA1917710603846
HP:0001260HP:0001260Dysarthria0NDUFS4 CL E G H4724255241ORPHA1977711602694
HP:0001260HP:0001260Dysarthria0NDUFS4 CL E G H4724255241ORPHA11017711602694
HP:0001260HP:0001260Dysarthria0NDUFS7 CL E G H374291255241ORPHA11307714601825
HP:0001260HP:0001260Dysarthria0NDUFS7 CL E G H374291255241ORPHA11427714601825
HP:0001260HP:0001260Dysarthria0NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM11427714601825
HP:0001260HP:0001260Dysarthria0NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM11307714601825
HP:0001260HP:0001260Dysarthria0NDUFS8 CL E G H4728255241ORPHA1827715602141
HP:0001260HP:0001260Dysarthria0NDUFS8 CL E G H4728255241ORPHA1887715602141
HP:0001260HP:0001260Dysarthria0NDUFS8 CL E G H4728618222MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2618222OMIM1887715602141
HP:0001260HP:0001260Dysarthria0NDUFS8 CL E G H4728618222MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2618222OMIM1827715602141
HP:0001260HP:0001260Dysarthria0NDUFV1 CL E G H4723255241ORPHA11747716161015
HP:0001260HP:0001260Dysarthria0NDUFV1 CL E G H4723255241ORPHA12007716161015
HP:0001260HP:0001260Dysarthria0NDUFV2 CL E G H4729255241ORPHA11637717600532
HP:0001260HP:0001260Dysarthria0NDUFV2 CL E G H4729255241ORPHA11807717600532
HP:0001260HP:0001260Dysarthria0NKX2-1 CL E G H7080610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress610978C1970269OMIM119411825600635
HP:0001260HP:0001260Dysarthria0NKX2-1 CL E G H7080610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress610978C1970269OMIM117011825600635
HP:0001260HP:0001260Dysarthria0NKX6-2 CL E G H84504527497ORPHA111919321605955
HP:0001260HP:0001260Dysarthria0NKX6-2 CL E G H84504527497ORPHA115119321605955
HP:0001260HP:0001260Dysarthria0NKX6-2 CL E G H84504617560SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY617560C4479653OMIM115119321605955
HP:0001260HP:0001260Dysarthria0NKX6-2 CL E G H84504617560SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY617560C4479653OMIM111919321605955
HP:0001260HP:0001260Dysarthria0NOP56 CL E G H10528276198ORPHA14315911614154
HP:0001260HP:0001260Dysarthria0NOP56 CL E G H10528276198ORPHA14415911614154
HP:0001260HP:0001260Dysarthria0NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM110857897607623
HP:0001260HP:0001260Dysarthria0NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM112887897607623
HP:0001260HP:0001260Dysarthria0NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM114714537601015
HP:0001260HP:0001260Dysarthria0NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM112714537601015
HP:0001260HP:0001260Dysarthria0NR4A2 CL E G H4929168600Parkinson disease, late-onset168600C3160718OMIM1957981601828
HP:0001260HP:0001260Dysarthria0NR4A2 CL E G H4929168600Parkinson disease, late-onset168600C3160718OMIM1897981601828
HP:0001260HP:0001260Dysarthria0NRAS CL E G H4893648ORPHA12267989164790
HP:0001260HP:0001260Dysarthria0NRAS CL E G H4893648ORPHA12127989164790
HP:0001260HP:0001260Dysarthria0NSUN2 CL E G H54888611091Mental retardation, autosomal recessive 5611091C1970199OMIM140125994610916
HP:0001260HP:0001260Dysarthria0NSUN2 CL E G H54888611091Mental retardation, autosomal recessive 5611091C1970199OMIM138625994610916
HP:0001260HP:0001260Dysarthria0NUBPL CL E G H80224618242MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21618242OMIM123120278613621
HP:0001260HP:0001260Dysarthria0NUBPL CL E G H80224618242MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21618242OMIM122220278613621
HP:0001260HP:0001260Dysarthria0NUP62 CL E G H23636225154ORPHA1778066605815
HP:0001260HP:0001260Dysarthria0NUP62 CL E G H23636225154ORPHA1438066605815
HP:0001260HP:0001260Dysarthria0OPA3 CL E G H8020767047ORPHA14018142606580
HP:0001260HP:0001260Dysarthria0OPA3 CL E G H8020767047ORPHA13728142606580
HP:0001260HP:0001260Dysarthria0OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM13728142606580
HP:0001260HP:0001260Dysarthria0OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM14018142606580
HP:0001260HP:0001260Dysarthria0OPTN CL E G H10133613435Amyotrophic lateral sclerosis type 12613435C3150692OMIM124017142602432
HP:0001260HP:0001260Dysarthria0OPTN CL E G H10133613435Amyotrophic lateral sclerosis type 12613435C3150692OMIM128817142602432
HP:0001260HP:0001260Dysarthria0PABPN1 CL E G H8106164300Oculopharyngeal muscular dystrophy164300C0270952OMIM1618565602279
HP:0001260HP:0001260Dysarthria0PANK2 CL E G H80025216873ORPHA133115894606157
HP:0001260HP:0001260Dysarthria0PANK2 CL E G H80025216866ORPHA133115894606157
HP:0001260HP:0001260Dysarthria0PANK2 CL E G H80025216873ORPHA126315894606157
HP:0001260HP:0001260Dysarthria0PANK2 CL E G H80025216866ORPHA126315894606157
HP:0001260HP:0001260Dysarthria0PANK2 CL E G H80025607236Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration607236C1846582OMIM133115894606157
HP:0001260HP:0001260Dysarthria0PANK2 CL E G H80025607236Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration607236C1846582OMIM126315894606157
HP:0001260HP:0001260Dysarthria0PANK2 CL E G H80025234200Pigmentary pallidal degeneration234200C0018523OMIM133115894606157
HP:0001260HP:0001260Dysarthria0PANK2 CL E G H80025234200Pigmentary pallidal degeneration234200C0018523OMIM126315894606157
HP:0001260HP:0001260Dysarthria0PCNA CL E G H5111615919Ataxia-telangiectasia-like disorder 2615919C4014676OMIM1408729176740
HP:0001260HP:0001260Dysarthria0PDE10A CL E G H10846494526ORPHA1898772610652
HP:0001260HP:0001260Dysarthria0PDE10A CL E G H10846494526ORPHA11138772610652
HP:0001260HP:0001260Dysarthria0PDE10A CL E G H10846616921Dyskinesia, limb and orofacial, infantile-onset616921C4310792OMIM11138772610652
HP:0001260HP:0001260Dysarthria0PDE10A CL E G H10846616921Dyskinesia, limb and orofacial, infantile-onset616921C4310792OMIM1898772610652
HP:0001260HP:0001260Dysarthria0PDE8B CL E G H8622228169Autosomal dominant striatal neurodegenerationC1836694ORPHA11558794603390
HP:0001260HP:0001260Dysarthria0PDE8B CL E G H8622228169Autosomal dominant striatal neurodegenerationC1836694ORPHA11398794603390
HP:0001260HP:0001260Dysarthria0PDE8B CL E G H8622609161Striatal degeneration, autosomal dominant 1609161C4310808OMIM11558794603390
HP:0001260HP:0001260Dysarthria0PDE8B CL E G H8622609161Striatal degeneration, autosomal dominant 1609161C4310808OMIM11398794603390
HP:0001260HP:0001260Dysarthria0PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM1958800190040
HP:0001260HP:0001260Dysarthria0PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM1938800190040
HP:0001260HP:0001260Dysarthria0PDGFB CL E G H5155615483Idiopathic basal ganglia calcification 5615483C3809645OMIM1938800190040
HP:0001260HP:0001260Dysarthria0PDGFB CL E G H5155615483Idiopathic basal ganglia calcification 5615483C3809645OMIM1958800190040
HP:0001260HP:0001260Dysarthria0PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM13048804173410
HP:0001260HP:0001260Dysarthria0PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM12838804173410
HP:0001260HP:0001260Dysarthria0PDHA1 CL E G H5160255241ORPHA15308806300502
HP:0001260HP:0001260Dysarthria0PDHA1 CL E G H5160255241ORPHA15388806300502
HP:0001260HP:0001260Dysarthria0PDYN CL E G H5173101108ORPHA11598820131340
HP:0001260HP:0001260Dysarthria0PDYN CL E G H5173101108ORPHA11448820131340
HP:0001260HP:0001260Dysarthria0PDYN CL E G H5173610245Spinocerebellar ataxia 23610245C1853250OMIM11598820131340
HP:0001260HP:0001260Dysarthria0PDYN CL E G H5173610245Spinocerebellar ataxia 23610245C1853250OMIM11448820131340
HP:0001260HP:0001260Dysarthria0PET100 CL E G H100131801255241ORPHA14340038614770
HP:0001260HP:0001260Dysarthria0PET100 CL E G H100131801255241ORPHA15140038614770
HP:0001260HP:0001260Dysarthria0PEX10 CL E G H5192247815ORPHA15788851602859
HP:0001260HP:0001260Dysarthria0PEX10 CL E G H5192247815ORPHA14808851602859
HP:0001260HP:0001260Dysarthria0PEX10 CL E G H5192614871Peroxisome biogenesis disorder 6B614871C3553948OMIM14808851602859
HP:0001260HP:0001260Dysarthria0PEX10 CL E G H5192614871Peroxisome biogenesis disorder 6B614871C3553948OMIM15788851602859
HP:0001260HP:0001260Dysarthria0PEX16 CL E G H9409614877Peroxisome biogenesis disorder 8B614877C3553960OMIM12038857603360
HP:0001260HP:0001260Dysarthria0PEX16 CL E G H9409614877Peroxisome biogenesis disorder 8B614877C3553960OMIM12828857603360
HP:0001260HP:0001260Dysarthria0PEX2 CL E G H5828614867Peroxisome biogenesis disorder 5B614867C3542026OMIM12549717170993
HP:0001260HP:0001260Dysarthria0PEX2 CL E G H5828614867Peroxisome biogenesis disorder 5B614867C3542026OMIM13199717170993
HP:0001260HP:0001260Dysarthria0PFN1 CL E G H5216614808Amyotrophic lateral sclerosis 18614808C3553719OMIM1708881176610
HP:0001260HP:0001260Dysarthria0PFN1 CL E G H5216614808Amyotrophic lateral sclerosis 18614808C3553719OMIM1768881176610
HP:0001260HP:0001260Dysarthria0PGM3 CL E G H5238615816Immunodeficiency 23615816C4014371OMIM11638907172100
HP:0001260HP:0001260Dysarthria0PGM3 CL E G H5238615816Immunodeficiency 23615816C4014371OMIM12178907172100
HP:0001260HP:0001260Dysarthria0PIK3R5 CL E G H23533615217Ataxia-oculomotor apraxia 3615217C3554690OMIM14830035611317
HP:0001260HP:0001260Dysarthria0PLA2G6 CL E G H8398199351ORPHA15139039603604
HP:0001260HP:0001260Dysarthria0PLA2G6 CL E G H8398199351ORPHA14319039603604
HP:0001260HP:0001260Dysarthria0PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM15139039603604
HP:0001260HP:0001260Dysarthria0PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM14319039603604
HP:0001260HP:0001260Dysarthria0PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM14319039603604
HP:0001260HP:0001260Dysarthria0PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM15139039603604
HP:0001260HP:0001260Dysarthria0PLD3 CL E G H23646617770SPINOCEREBELLAR ATAXIA 46617770C4540404OMIM12017158615698
HP:0001260HP:0001260Dysarthria0PLD3 CL E G H23646617770SPINOCEREBELLAR ATAXIA 46617770C4540404OMIM11917158615698
HP:0001260HP:0001260Dysarthria0PLEKHG4 CL E G H2589498765ORPHA14124501609526
HP:0001260HP:0001260Dysarthria0PLEKHG4 CL E G H2589498765ORPHA14024501609526
HP:0001260HP:0001260Dysarthria0PLP1 CL E G H5354312080Pelizaeus-Merzbacher disease312080C0205711OMIM13359086300401
HP:0001260HP:0001260Dysarthria0PLP1 CL E G H5354312080Pelizaeus-Merzbacher disease312080C0205711OMIM13659086300401
HP:0001260HP:0001260Dysarthria0PLP1 CL E G H5354312920Spastic paraplegia 2312920C1839264OMIM13359086300401
HP:0001260HP:0001260Dysarthria0PLP1 CL E G H5354312920Spastic paraplegia 2312920C1839264OMIM13659086300401
HP:0001260HP:0001260Dysarthria0PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM113418667613036
HP:0001260HP:0001260Dysarthria0PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM112818667613036
HP:0001260HP:0001260Dysarthria0PNKD CL E G H25953118800Paroxysmal nonkinesigenic dyskinesia 1118800OMIM13819153609023
HP:0001260HP:0001260Dysarthria0PNKD CL E G H25953118800Paroxysmal nonkinesigenic dyskinesia 1118800OMIM13339153609023
HP:0001260HP:0001260Dysarthria0PNPLA8 CL E G H50640251950Mitochondrial myopathy with lactic acidosis251950C1855033OMIM16828900612123
HP:0001260HP:0001260Dysarthria0PNPLA8 CL E G H50640251950Mitochondrial myopathy with lactic acidosis251950C1855033OMIM15628900612123
HP:0001260HP:0001260Dysarthria0POLG CL E G H542870595ORPHA117129179174763
HP:0001260HP:0001260Dysarthria0POLG CL E G H542870595ORPHA114709179174763
HP:0001260HP:0001260Dysarthria0POLG CL E G H5428157640Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1157640C1834846OMIM117129179174763
HP:0001260HP:0001260Dysarthria0POLG CL E G H5428157640Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1157640C1834846OMIM114709179174763
HP:0001260HP:0001260Dysarthria0POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM114709179174763
HP:0001260HP:0001260Dysarthria0POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM117129179174763
HP:0001260HP:0001260Dysarthria0POLG CL E G H5428607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM117129179174763
HP:0001260HP:0001260Dysarthria0POLG CL E G H5428607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM114709179174763
HP:0001260HP:0001260Dysarthria0POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM165430074614258
HP:0001260HP:0001260Dysarthria0POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM148430074614258
HP:0001260HP:0001260Dysarthria0POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM132630348614366
HP:0001260HP:0001260Dysarthria0POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM129730348614366
HP:0001260HP:0001260Dysarthria0POLR3B CL E G H55703614381Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism614381C3280644OMIM129730348614366
HP:0001260HP:0001260Dysarthria0POLR3B CL E G H55703614381Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism614381C3280644OMIM132630348614366
HP:0001260HP:0001260Dysarthria0PPP1R15B CL E G H84919616817Microcephaly, short stature, and impaired glucose metabolism 2616817C4225195OMIM13714951613257
HP:0001260HP:0001260Dysarthria0PPP1R15B CL E G H84919616817Microcephaly, short stature, and impaired glucose metabolism 2616817C4225195OMIM13514951613257
HP:0001260HP:0001260Dysarthria0PPP2R2B CL E G H5521604326Spinocerebellar ataxia 12604326C1858501OMIM1369305604325
HP:0001260HP:0001260Dysarthria0PPP2R2B CL E G H5521604326Spinocerebellar ataxia 12604326C1858501OMIM1389305604325
HP:0001260HP:0001260Dysarthria0PRDM8 CL E G H56978324290ORPHA124713993616639
HP:0001260HP:0001260Dysarthria0PRDM8 CL E G H56978324290ORPHA132313993616639
HP:0001260HP:0001260Dysarthria0PRDM8 CL E G H56978616640Epilepsy, progressive myoclonic, 10616640C4225258OMIM132313993616639
HP:0001260HP:0001260Dysarthria0PRDM8 CL E G H56978616640Epilepsy, progressive myoclonic, 10616640C4225258OMIM124713993616639
HP:0001260HP:0001260Dysarthria0PRICKLE1 CL E G H144165308ORPHA144917019608500
HP:0001260HP:0001260Dysarthria0PRICKLE1 CL E G H144165308ORPHA139317019608500
HP:0001260HP:0001260Dysarthria0PRICKLE1 CL E G H144165612437Progressive myoclonus epilepsy with ataxia612437C2676254OMIM144917019608500
HP:0001260HP:0001260Dysarthria0PRICKLE1 CL E G H144165612437Progressive myoclonus epilepsy with ataxia612437C2676254OMIM139317019608500
HP:0001260HP:0001260Dysarthria0PRKCG CL E G H5582605361Spinocerebellar ataxia 14605361C1854369OMIM12719402176980
HP:0001260HP:0001260Dysarthria0PRKCG CL E G H5582605361Spinocerebellar ataxia 14605361C1854369OMIM12619402176980
HP:0001260HP:0001260Dysarthria0PRKRA CL E G H8575210571ORPHA11519438603424
HP:0001260HP:0001260Dysarthria0PRKRA CL E G H8575210571ORPHA11419438603424
HP:0001260HP:0001260Dysarthria0PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11519438603424
HP:0001260HP:0001260Dysarthria0PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11419438603424
HP:0001260HP:0001260Dysarthria0PRNP CL E G H5621157941ORPHA11469449176640
HP:0001260HP:0001260Dysarthria0PRNP CL E G H5621157941ORPHA11319449176640
HP:0001260HP:0001260Dysarthria0PRNP CL E G H5621600072Fatal familial insomnia600072C0206042OMIM11319449176640
HP:0001260HP:0001260Dysarthria0PRNP CL E G H5621600072Fatal familial insomnia600072C0206042OMIM11469449176640
HP:0001260HP:0001260Dysarthria0PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11469449176640
HP:0001260HP:0001260Dysarthria0PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11319449176640
HP:0001260HP:0001260Dysarthria0PRNP CL E G H5621603218Huntington disease-like 1603218C1864112OMIM11319449176640
HP:0001260HP:0001260Dysarthria0PRNP CL E G H5621603218Huntington disease-like 1603218C1864112OMIM11469449176640
HP:0001260HP:0001260Dysarthria0PSAP CL E G H5660309271ORPHA13909498176801
HP:0001260HP:0001260Dysarthria0PSAP CL E G H5660309263ORPHA13909498176801
HP:0001260HP:0001260Dysarthria0PSAP CL E G H5660309256ORPHA13909498176801
HP:0001260HP:0001260Dysarthria0PSAP CL E G H5660309271ORPHA15029498176801
HP:0001260HP:0001260Dysarthria0PSAP CL E G H5660309263ORPHA15029498176801
HP:0001260HP:0001260Dysarthria0PSAP CL E G H5660309256ORPHA15029498176801
HP:0001260HP:0001260Dysarthria0PSAP CL E G H5660249900Sphingolipid activator protein 1 deficiency249900C0268262OMIM15029498176801
HP:0001260HP:0001260Dysarthria0PSAP CL E G H5660249900Sphingolipid activator protein 1 deficiency249900C0268262OMIM13909498176801
HP:0001260HP:0001260Dysarthria0PSEN1 CL E G H5663607822Alzheimer disease, type 3607822C1843013OMIM14319508104311
HP:0001260HP:0001260Dysarthria0PSEN1 CL E G H5663607822Alzheimer disease, type 3607822C1843013OMIM14089508104311
HP:0001260HP:0001260Dysarthria0PTPN11 CL E G H5781648ORPHA16299644176876
HP:0001260HP:0001260Dysarthria0PTPN11 CL E G H5781648ORPHA15659644176876
HP:0001260HP:0001260Dysarthria0PUM1 CL E G H9698617931SPINOCEREBELLAR ATAXIA 47617931CN244564OMIM18814957607204
HP:0001260HP:0001260Dysarthria0PUM1 CL E G H9698617931SPINOCEREBELLAR ATAXIA 47617931CN244564OMIM18614957607204
HP:0001260HP:0001260Dysarthria0RAB39B CL E G H116442311510Parkinsonism, early onset with mental retardation311510C0796195OMIM129116499300774
HP:0001260HP:0001260Dysarthria0RAB39B CL E G H116442311510Parkinsonism, early onset with mental retardation311510C0796195OMIM130316499300774
HP:0001260HP:0001260Dysarthria0RAF1 CL E G H5894648ORPHA16909829164760
HP:0001260HP:0001260Dysarthria0RAF1 CL E G H5894648ORPHA16259829164760
HP:0001260HP:0001260Dysarthria0RAI1 CL E G H107431713ORPHA18069834607642
HP:0001260HP:0001260Dysarthria0RAI1 CL E G H107431713ORPHA15159834607642
HP:0001260HP:0001260Dysarthria0RANBP2 CL E G H590388619ORPHA17769848601181
HP:0001260HP:0001260Dysarthria0RANBP2 CL E G H590388619ORPHA17039848601181
HP:0001260HP:0001260Dysarthria0RARS CL E G H5917616140Leukodystrophy, hypomyelinating, 9616140C4015323OMIM19870107820
HP:0001260HP:0001260Dysarthria0RASA2 CL E G H5922648ORPHA12369872601589
HP:0001260HP:0001260Dysarthria0RASA2 CL E G H5922648ORPHA11739872601589
HP:0001260HP:0001260Dysarthria0REEP1 CL E G H65055610250Spastic paraplegia 31, autosomal dominant610250C1853247OMIM134425786609139
HP:0001260HP:0001260Dysarthria0REEP1 CL E G H65055610250Spastic paraplegia 31, autosomal dominant610250C1853247OMIM131525786609139
HP:0001260HP:0001260Dysarthria0REPS1 CL E G H85021617916NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7617916CN895590OMIM15015578614825
HP:0001260HP:0001260Dysarthria0REPS1 CL E G H85021617916NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7617916CN895590OMIM12615578614825
HP:0001260HP:0001260Dysarthria0RERE CL E G H473616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart616975C4310772OMIM12579965605226
HP:0001260HP:0001260Dysarthria0RERE CL E G H473616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart616975C4310772OMIM12299965605226
HP:0001260HP:0001260Dysarthria0RIT1 CL E G H6016648ORPHA116010023609591
HP:0001260HP:0001260Dysarthria0RIT1 CL E G H6016648ORPHA113710023609591
HP:0001260HP:0001260Dysarthria0RNASEH1 CL E G H246243329336ORPHA18618466604123
HP:0001260HP:0001260Dysarthria0RNASEH1 CL E G H246243329336ORPHA19518466604123
HP:0001260HP:0001260Dysarthria0RNASEH1 CL E G H246243616479Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2616479C4225312OMIM19518466604123
HP:0001260HP:0001260Dysarthria0RNASEH1 CL E G H246243616479Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2616479C4225312OMIM18618466604123
HP:0001260HP:0001260Dysarthria0RNF216 CL E G H54476212840Gordon Holmes syndrome212840C1859305OMIM117921698609948
HP:0001260HP:0001260Dysarthria0RNF216 CL E G H54476212840Gordon Holmes syndrome212840C1859305OMIM113421698609948
HP:0001260HP:0001260Dysarthria0RNU12 CL E G H267010512260ORPHA112193800
HP:0001260HP:0001260Dysarthria0RPIA CL E G H22934608611Deficiency of ribose-5-phosphate isomerase608611C1291609OMIM16910297180430
HP:0001260HP:0001260Dysarthria0RPIA CL E G H22934608611Deficiency of ribose-5-phosphate isomerase608611C1291609OMIM16410297180430
HP:0001260HP:0001260Dysarthria0RRAS CL E G H6237648ORPHA115710447165090
HP:0001260HP:0001260Dysarthria0RRAS CL E G H6237648ORPHA111610447165090
HP:0001260HP:0001260Dysarthria0RRM2B CL E G H50484329336ORPHA126117296604712
HP:0001260HP:0001260Dysarthria0RRM2B CL E G H50484329336ORPHA127217296604712
HP:0001260HP:0001260Dysarthria0RRM2B CL E G H50484613077Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5613077C2751319OMIM126117296604712
HP:0001260HP:0001260Dysarthria0RRM2B CL E G H50484613077Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5613077C2751319OMIM127217296604712
HP:0001260HP:0001260Dysarthria0RUBCN CL E G H9711404499ORPHA111428991613516
HP:0001260HP:0001260Dysarthria0RUBCN CL E G H9711404499ORPHA111828991613516
HP:0001260HP:0001260Dysarthria0RUBCN CL E G H9711615705Spinocerebellar ataxia, autosomal recessive 15615705C3810326OMIM111428991613516
HP:0001260HP:0001260Dysarthria0RUBCN CL E G H9711615705Spinocerebellar ataxia, autosomal recessive 15615705C3810326OMIM111828991613516
HP:0001260HP:0001260Dysarthria0SACS CL E G H2627898ORPHA1208810519604490
HP:0001260HP:0001260Dysarthria0SACS CL E G H2627898ORPHA1191410519604490
HP:0001260HP:0001260Dysarthria0SACS CL E G H26278270550Spastic ataxia Charlevoix-Saguenay type270550C1849140OMIM1191410519604490
HP:0001260HP:0001260Dysarthria0SACS CL E G H26278270550Spastic ataxia Charlevoix-Saguenay type270550C1849140OMIM1208810519604490
HP:0001260HP:0001260Dysarthria0SAMD9L CL E G H219285159550Myelocerebellar disorder159550C1327919OMIM12901349611170
HP:0001260HP:0001260Dysarthria0SAMD9L CL E G H219285159550Myelocerebellar disorder159550C1327919OMIM11381349611170
HP:0001260HP:0001260Dysarthria0SCARB2 CL E G H950308ORPHA13761665602257
HP:0001260HP:0001260Dysarthria0SCARB2 CL E G H950308ORPHA13281665602257
HP:0001260HP:0001260Dysarthria0SCARB2 CL E G H950254900Epilepsy, progressive myoclonic 4, with or without renal failure254900C0751779OMIM13761665602257
HP:0001260HP:0001260Dysarthria0SCARB2 CL E G H950254900Epilepsy, progressive myoclonic 4, with or without renal failure254900C0751779OMIM13281665602257
HP:0001260HP:0001260Dysarthria0SCO2 CL E G H9997521411ORPHA137010604604272
HP:0001260HP:0001260Dysarthria0SCO2 CL E G H9997521411ORPHA144510604604272
HP:0001260HP:0001260Dysarthria0SDHA CL E G H6389255241ORPHA1154510680600857
HP:0001260HP:0001260Dysarthria0SDHA CL E G H6389255241ORPHA1177810680600857
HP:0001260HP:0001260Dysarthria0SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1177810680600857
HP:0001260HP:0001260Dysarthria0SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1154510680600857
HP:0001260HP:0001260Dysarthria0SERPINI1 CL E G H5274604218Encephalopathy, familial, with neuroserpin inclusion bodies604218C1858680OMIM11888943602445
HP:0001260HP:0001260Dysarthria0SERPINI1 CL E G H5274604218Encephalopathy, familial, with neuroserpin inclusion bodies604218C1858680OMIM12278943602445
HP:0001260HP:0001260Dysarthria0SIGMAR1 CL E G H10280300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA11618157601978
HP:0001260HP:0001260Dysarthria0SIGMAR1 CL E G H10280300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA11798157601978
HP:0001260HP:0001260Dysarthria0SIL1 CL E G H64374559ORPHA121724624608005
HP:0001260HP:0001260Dysarthria0SIL1 CL E G H64374559ORPHA120624624608005
HP:0001260HP:0001260Dysarthria0SIL1 CL E G H64374248800Marinesco-Sjögren syndrome248800C0024814OMIM121724624608005
HP:0001260HP:0001260Dysarthria0SIL1 CL E G H64374248800Marinesco-Sjögren syndrome248800C0024814OMIM120624624608005
HP:0001260HP:0001260Dysarthria0SLC16A2 CL E G H6567300523Allan-Herndon-Dudley syndrome300523C0795889OMIM129010923300095
HP:0001260HP:0001260Dysarthria0SLC16A2 CL E G H6567300523Allan-Herndon-Dudley syndrome300523C0795889OMIM131810923300095
HP:0001260HP:0001260Dysarthria0SLC17A5 CL E G H26503604369Salla disease604369C1096903OMIM128510933604322
HP:0001260HP:0001260Dysarthria0SLC17A5 CL E G H26503604369Salla disease604369C1096903OMIM133510933604322
HP:0001260HP:0001260Dysarthria0SLC18A2 CL E G H6571352649ORPHA18010935193001
HP:0001260HP:0001260Dysarthria0SLC18A2 CL E G H6571352649ORPHA110310935193001
HP:0001260HP:0001260Dysarthria0SLC18A2 CL E G H6571618049PARKINSONISM-DYSTONIA, INFANTILE, 2618049CN248785OMIM110310935193001
HP:0001260HP:0001260Dysarthria0SLC18A2 CL E G H6571618049PARKINSONISM-DYSTONIA, INFANTILE, 2618049CN248785OMIM18010935193001
HP:0001260HP:0001260Dysarthria0SLC19A3 CL E G H80704255241ORPHA140016266606152
HP:0001260HP:0001260Dysarthria0SLC19A3 CL E G H80704255241ORPHA146116266606152
HP:0001260HP:0001260Dysarthria0SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM146116266606152
HP:0001260HP:0001260Dysarthria0SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM140016266606152
HP:0001260HP:0001260Dysarthria0SLC1A3 CL E G H6507612656Episodic ataxia, type 6612656C2675211OMIM117610941600111
HP:0001260HP:0001260Dysarthria0SLC1A3 CL E G H6507