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 H144568648ORPHA1140323336610627
HP:0001260HP:0001260Dysarthria0AAAS CL E G H8086231550Glucocorticoid deficiency with achalasia231550C0271742OMIM121713666605378
HP:0001260HP:0001260Dysarthria0AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM154321022612035
HP:0001260HP:0001260Dysarthria0ABCB7 CL E G H22301310Anemia sideroblastic and spinocerebellar ataxia301310C1845028OMIM129948300135
HP:0001260HP:0001260Dysarthria0ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM152915868613599
HP:0001260HP:0001260Dysarthria0ADA2 CL E G H51816182410Idiopathic livedo reticularis with systemic involvement182410C0282492OMIM15331839607575
HP:0001260HP:0001260Dysarthria0ADAR CL E G H103225154ORPHA11122225146920
HP:0001260HP:0001260Dysarthria0ADCY5 CL E G H111324588ORPHA1653236600293
HP:0001260HP:0001260Dysarthria0ADCY5 CL E G H111606703Dyskinesia, familial, with facial myokymia606703C1847627OMIM1653236600293
HP:0001260HP:0001260Dysarthria0ADPRHL2 CL E G H54936618170NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES618170OMIM121304610624
HP:0001260HP:0001260Dysarthria0AFG3L2 CL E G H10939101109ORPHA1480315604581
HP:0001260HP:0001260Dysarthria0AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1480315604581
HP:0001260HP:0001260Dysarthria0AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1480315604581
HP:0001260HP:0001260Dysarthria0ALDH18A1 CL E G H5832447760ORPHA15869722138250
HP:0001260HP:0001260Dysarthria0ALDH18A1 CL E G H5832601162Spastic paraplegia 9601162C1832669OMIM15869722138250
HP:0001260HP:0001260Dysarthria0ALDH3A2 CL E G H224816ORPHA1635403609523
HP:0001260HP:0001260Dysarthria0ALS2 CL E G H57679293168ORPHA1947443606352
HP:0001260HP:0001260Dysarthria0ALS2 CL E G H57679607225Infantile-onset ascending hereditary spastic paralysis607225C2931441OMIM1947443606352
HP:0001260HP:0001260Dysarthria0ALS2 CL E G H57679300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1947443606352
HP:0001260HP:0001260Dysarthria0AMACR CL E G H23600614307Alpha-methylacyl-CoA racemase deficiency614307C3280428OMIM1392451604489
HP:0001260HP:0001260Dysarthria0ANO10 CL E G H55129284289ORPHA127025519613726
HP:0001260HP:0001260Dysarthria0ANO10 CL E G H55129613728Spinocerebellar ataxia, autosomal recessive 10613728C3150998OMIM127025519613726
HP:0001260HP:0001260Dysarthria0AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1403572607245
HP:0001260HP:0001260Dysarthria0APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM133115984606350
HP:0001260HP:0001260Dysarthria0AR CL E G H367481ORPHA1649644313700
HP:0001260HP:0001260Dysarthria0AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1649644313700
HP:0001260HP:0001260Dysarthria0ARSA CL E G H410309271ORPHA11140713607574
HP:0001260HP:0001260Dysarthria0ARSA CL E G H410309256ORPHA11140713607574
HP:0001260HP:0001260Dysarthria0ARSA CL E G H410309263ORPHA11140713607574
HP:0001260HP:0001260Dysarthria0ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM11140713607574
HP:0001260HP:0001260Dysarthria0ARX CL E G H170302309510Partington X-linked mental retardation syndrome309510C0796250OMIM181018060300382
HP:0001260HP:0001260Dysarthria0ATCAY CL E G H8530094122ORPHA1209779608179
HP:0001260HP:0001260Dysarthria0ATCAY CL E G H85300601238Cerebellar ataxia, Cayman type601238C1832585OMIM1209779608179
HP:0001260HP:0001260Dysarthria0ATM CL E G H472100ORPHA114692795607585
HP:0001260HP:0001260Dysarthria0ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM114692795607585
HP:0001260HP:0001260Dysarthria0ATN1 CL E G H1822101ORPHA12133033607462
HP:0001260HP:0001260Dysarthria0ATP13A2 CL E G H23400513436ORPHA197430213610513
HP:0001260HP:0001260Dysarthria0ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM197430213610513
HP:0001260HP:0001260Dysarthria0ATP13A2 CL E G H23400617225Spastic paraplegia 78, autosomal recessive617225C4310662OMIM197430213610513
HP:0001260HP:0001260Dysarthria0ATP1A2 CL E G H477602481Familial hemiplegic migraine type 2602481C1865322OMIM11117800182340
HP:0001260HP:0001260Dysarthria0ATP1A3 CL E G H47871517ORPHA1993801182350
HP:0001260HP:0001260Dysarthria0ATP1A3 CL E G H478614820Alternating hemiplegia of childhood 2614820C3553788OMIM1993801182350
HP:0001260HP:0001260Dysarthria0ATP1A3 CL E G H478601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss601338C1832466OMIM1993801182350
HP:0001260HP:0001260Dysarthria0ATP1A3 CL E G H478128235Dystonia 12128235C1868681OMIM1993801182350
HP:0001260HP:0001260Dysarthria0ATP2B3 CL E G H492302500Spinocerebellar ataxia, X-linked 1302500C0796205OMIM1352816300014
HP:0001260HP:0001260Dysarthria0ATP7B CL E G H540905ORPHA12303870606882
HP:0001260HP:0001260Dysarthria0ATP7B CL E G H540277900Wilson disease277900C0019202OMIM12303870606882
HP:0001260HP:0001260Dysarthria0ATP8A2 CL E G H51761615268Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4615268C3808977OMIM144413533605870
HP:0001260HP:0001260Dysarthria0ATXN1 CL E G H631098755ORPHA112010548601556
HP:0001260HP:0001260Dysarthria0ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM112010548601556
HP:0001260HP:0001260Dysarthria0ATXN10 CL E G H2581498761ORPHA111610549611150
HP:0001260HP:0001260Dysarthria0ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM111610549611150
HP:0001260HP:0001260Dysarthria0ATXN2 CL E G H631198756ORPHA111510555601517
HP:0001260HP:0001260Dysarthria0ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM111510555601517
HP:0001260HP:0001260Dysarthria0ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0001260HP:0001260Dysarthria0ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0001260HP:0001260Dysarthria0ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0001260HP:0001260Dysarthria0ATXN7 CL E G H631494147ORPHA19810560607640
HP:0001260HP:0001260Dysarthria0ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0001260HP:0001260Dysarthria0ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM18710561603680
HP:0001260HP:0001260Dysarthria0AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM1249890600529
HP:0001260HP:0001260Dysarthria0B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM12954117601873
HP:0001260HP:0001260Dysarthria0BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0001260HP:0001260Dysarthria0BEAN1 CL E G H146227217012ORPHA15624160612051
HP:0001260HP:0001260Dysarthria0BEAN1 CL E G H146227117210Spinocerebellar ataxia 31117210C1861736OMIM15624160612051
HP:0001260HP:0001260Dysarthria0BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM16561052601248
HP:0001260HP:0001260Dysarthria0BRAF CL E G H673648ORPHA111821097164757
HP:0001260HP:0001260Dysarthria0C12orf65 CL E G H91574613559Combined oxidative phosphorylation deficiency 7613559C3150801OMIM126784613541
HP:0001260HP:0001260Dysarthria0C19orf12 CL E G H83636289560ORPHA130725443614297
HP:0001260HP:0001260Dysarthria0C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM130725443614297
HP:0001260HP:0001260Dysarthria0C19orf12 CL E G H83636615043Spastic paraplegia 43, autosomal recessive615043C2680446OMIM130725443614297
HP:0001260HP:0001260Dysarthria0C9orf72 CL E G H203228275872ORPHA117728337614260
HP:0001260HP:0001260Dysarthria0C9orf72 CL E G H203228105550Amyotrophic lateral sclerosis and/or frontotemporal dementia 1105550C1862937OMIM117728337614260
HP:0001260HP:0001260Dysarthria0CA8 CL E G H767613227Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3613227C2750509OMIM1941382114815
HP:0001260HP:0001260Dysarthria0CACNA1A CL E G H77397ORPHA132481388601011
HP:0001260HP:0001260Dysarthria0CACNA1A CL E G H773108500Episodic ataxia type 2108500C1720416OMIM132481388601011
HP:0001260HP:0001260Dysarthria0CACNA1A CL E G H773183086Spinocerebellar ataxia 6183086C0752124OMIM132481388601011
HP:0001260HP:0001260Dysarthria0CACNA1G CL E G H8913458803ORPHA18221394604065
HP:0001260HP:0001260Dysarthria0CACNB4 CL E G H785211067ORPHA13231404601949
HP:0001260HP:0001260Dysarthria0CACNB4 CL E G H785613855Episodic ataxia, type 5613855C1866039OMIM13231404601949
HP:0001260HP:0001260Dysarthria0CAMTA1 CL E G H23261314647ORPHA155018806611501
HP:0001260HP:0001260Dysarthria0CAMTA1 CL E G H23261614756Cerebellar ataxia, nonprogressive, with mental retardation614756C3553661OMIM155018806611501
HP:0001260HP:0001260Dysarthria0CAPN1 CL E G H823488594ORPHA12481476114220
HP:0001260HP:0001260Dysarthria0CCDC88C CL E G H440193423275ORPHA158619967611204
HP:0001260HP:0001260Dysarthria0CCDC88C CL E G H440193616053Spinocerebellar ataxia 40616053CN252333OMIM158619967611204
HP:0001260HP:0001260Dysarthria0CHCHD10 CL E G H400916275872ORPHA129715559615903
HP:0001260HP:0001260Dysarthria0CHCHD10 CL E G H400916615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2615911C4014648OMIM129715559615903
HP:0001260HP:0001260Dysarthria0CHD2 CL E G H11061942ORPHA118381917602119
HP:0001260HP:0001260Dysarthria0CHD3 CL E G H1107618205SNIJDERS BLOK-CAMPEAU SYNDROME618205OMIM13781918602120
HP:0001260HP:0001260Dysarthria0CHMP2B CL E G H25978614696Amyotrophic lateral sclerosis 17614696C1836076OMIM116024537609512
HP:0001260HP:0001260Dysarthria0CHRNA1 CL E G H1134608930Congenital myasthenic syndrome 1B, fast-channel608930C1837122OMIM14681955100690
HP:0001260HP:0001260Dysarthria0CHRNA1 CL E G H1134601462Myasthenic syndrome, slow-channel congenital601462C0751885OMIM14681955100690
HP:0001260HP:0001260Dysarthria0CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM110111966100725
HP:0001260HP:0001260Dysarthria0CISD2 CL E G H4938563463ORPHA17124212611507
HP:0001260HP:0001260Dysarthria0CLN3 CL E G H1201204200Juvenile neuronal ceroid lipofuscinosis204200C0751383OMIM110152074607042
HP:0001260HP:0001260Dysarthria0COASY CL E G H80347397725ORPHA128129932609855
HP:0001260HP:0001260Dysarthria0COASY CL E G H80347615643Neurodegeneration with brain iron accumulation 6615643C3810230OMIM128129932609855
HP:0001260HP:0001260Dysarthria0COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM15422226603033
HP:0001260HP:0001260Dysarthria0COQ2 CL E G H27235227510ORPHA134625223609825
HP:0001260HP:0001260Dysarthria0COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM134625223609825
HP:0001260HP:0001260Dysarthria0COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0001260HP:0001260Dysarthria0COX15 CL E G H1355255241ORPHA13572263603646
HP:0001260HP:0001260Dysarthria0COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0001260HP:0001260Dysarthria0CSTB CL E G H1476308ORPHA12612482601145
HP:0001260HP:0001260Dysarthria0CSTB CL E G H1476254800Unverricht-Lundborg syndrome254800C0751785OMIM12612482601145
HP:0001260HP:0001260Dysarthria0CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0001260HP:0001260Dysarthria0CTSF CL E G H8722615362Ceroid lipofuscinosis, neuronal, 13615362C3715049OMIM12182531603539
HP:0001260HP:0001260Dysarthria0CWF19L1 CL E G H55280453521ORPHA110025613616120
HP:0001260HP:0001260Dysarthria0CWF19L1 CL E G H55280616127Spinocerebellar ataxia, autosomal recessive 17616127C4015301OMIM110025613616120
HP:0001260HP:0001260Dysarthria0CYP7B1 CL E G H9420270800Spastic paraplegia 5A270800C1849115OMIM14152652603711
HP:0001260HP:0001260Dysarthria0DAB1 CL E G H1600615945Spinocerebellar ataxia 37615945C3889636OMIM11072661603448
HP:0001260HP:0001260Dysarthria0DCAF17 CL E G H800673464ORPHA136625784612515
HP:0001260HP:0001260Dysarthria0DCAF17 CL E G H80067241080Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities241080C0342286OMIM136625784612515
HP:0001260HP:0001260Dysarthria0DCTN1 CL E G H1639168605Perry syndrome168605C1868594OMIM110842711601143
HP:0001260HP:0001260Dysarthria0DCX CL E G H1641300067Lissencephaly, X-linked300067C1848199OMIM14232714300121
HP:0001260HP:0001260Dysarthria0DDHD2 CL E G H23259320380ORPHA134129106615003
HP:0001260HP:0001260Dysarthria0DDHD2 CL E G H23259615033Spastic paraplegia 54, autosomal recessive615033C3539495OMIM134129106615003
HP:0001260HP:0001260Dysarthria0DMXL2 CL E G H23312616113Polyendocrine-polyneuropathy syndrome616113C4015261OMIM112162938612186
HP:0001260HP:0001260Dysarthria0DNAJB6 CL E G H1004934516ORPHA148714888611332
HP:0001260HP:0001260Dysarthria0DNAJC6 CL E G H9829615528Parkinson disease 19a, juvenile-onset615528C3809811OMIM131015469608375
HP:0001260HP:0001260Dysarthria0EBF3 CL E G H253738617330Hypotonia, ataxia, and delayed development syndrome617330C4310618OMIM128819087607407
HP:0001260HP:0001260Dysarthria0ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0001260HP:0001260Dysarthria0EEF2 CL E G H1938101112ORPHA13193214130610
HP:0001260HP:0001260Dysarthria0EEF2 CL E G H1938609306Spinocerebellar ataxia 26609306C1836395OMIM13193214130610
HP:0001260HP:0001260Dysarthria0EIF2B1 CL E G H1967603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11923257606686
HP:0001260HP:0001260Dysarthria0EIF2B2 CL E G H8892603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11903258606454
HP:0001260HP:0001260Dysarthria0EIF2B3 CL E G H8891603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11813259606273
HP:0001260HP:0001260Dysarthria0EIF2B4 CL E G H8890603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM12333260606687
HP:0001260HP:0001260Dysarthria0EIF2B5 CL E G H8893603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM15793261603945
HP:0001260HP:0001260Dysarthria0ELOVL4 CL E G H67851955ORPHA129714415605512
HP:0001260HP:0001260Dysarthria0ELOVL4 CL E G H6785133190Erythrokeratodermia with ataxia133190C1851481OMIM129714415605512
HP:0001260HP:0001260Dysarthria0ELOVL5 CL E G H60481423296ORPHA110521308611805
HP:0001260HP:0001260Dysarthria0ELOVL5 CL E G H60481615957Spinocerebellar ataxia 38615957C4014812OMIM110521308611805
HP:0001260HP:0001260Dysarthria0ENTPD1 CL E G H953401810ORPHA11993363601752
HP:0001260HP:0001260Dysarthria0ENTPD1 CL E G H953615683Spastic paraplegia 64, autosomal recessive615683C3810289OMIM11993363601752
HP:0001260HP:0001260Dysarthria0ERCC2 CL E G H2068220295ORPHA115723434126340
HP:0001260HP:0001260Dysarthria0ERCC3 CL E G H2071220295ORPHA15233435133510
HP:0001260HP:0001260Dysarthria0ERCC4 CL E G H2072220295ORPHA17263436133520
HP:0001260HP:0001260Dysarthria0ERCC5 CL E G H2073220295ORPHA14913437133530
HP:0001260HP:0001260Dysarthria0ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM14843439609412
HP:0001260HP:0001260Dysarthria0ERLIN1 CL E G H10613401785ORPHA113616947611604
HP:0001260HP:0001260Dysarthria0EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0001260HP:0001260Dysarthria0FA2H CL E G H79152171629ORPHA138121197611026
HP:0001260HP:0001260Dysarthria0FA2H CL E G H79152612319Spastic paraplegia 35612319C3668943OMIM138121197611026
HP:0001260HP:0001260Dysarthria0FAM126A CL E G H84668610532Hypomyelination and Congenital Cataract610532C1864663OMIM124587610531
HP:0001260HP:0001260Dysarthria0FAT2 CL E G H2196617769SPINOCEREBELLAR ATAXIA 45617769C4540400OMIM17553596604269
HP:0001260HP:0001260Dysarthria0FBXO7 CL E G H25793260300Parkinson disease 15260300C1850100OMIM124313586605648
HP:0001260HP:0001260Dysarthria0FGF14 CL E G H225998764ORPHA12513671601515
HP:0001260HP:0001260Dysarthria0FLRT1 CL E G H23769320406ORPHA11543760604806
HP:0001260HP:0001260Dysarthria0FMR1 CL E G H233293256ORPHA13713775309550
HP:0001260HP:0001260Dysarthria0FMR1 CL E G H2332300623Fragile X tremor/ataxia syndrome300623C1839780OMIM13713775309550
HP:0001260HP:0001260Dysarthria0FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0001260HP:0001260Dysarthria0FTL CL E G H2512606159Neuroferritinopathy606159C1853578OMIM11853999134790
HP:0001260HP:0001260Dysarthria0FUS CL E G H2521275872ORPHA14744010137070
HP:0001260HP:0001260Dysarthria0FUS CL E G H2521300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA14744010137070
HP:0001260HP:0001260Dysarthria0FXN CL E G H239595ORPHA11583951606829
HP:0001260HP:0001260Dysarthria0FXN CL E G H2395229300Friedreich ataxia 1229300C1856689OMIM11583951606829
HP:0001260HP:0001260Dysarthria0GAN CL E G H8139256850Giant axonal neuropathy256850C1850386OMIM17774137605379
HP:0001260HP:0001260Dysarthria0GBA2 CL E G H57704614409Spastic paraplegia 46, autosomal recessive614409C2828721OMIM135518986609471
HP:0001260HP:0001260Dysarthria0GFPT1 CL E G H2673608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM15244241138292
HP:0001260HP:0001260Dysarthria0GJA1 CL E G H26972710Hm syndromeORPHA12724274121014
HP:0001260HP:0001260Dysarthria0GJA1 CL E G H2697164200Oculodentodigital dysplasia164200C0812437OMIM12724274121014
HP:0001260HP:0001260Dysarthria0GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM18604283304040
HP:0001260HP:0001260Dysarthria0GJC2 CL E G H57165320401ORPHA132317494608803
HP:0001260HP:0001260Dysarthria0GJC2 CL E G H57165608804Leukodystrophy, hypomyelinating, 2608804C1837355OMIM132317494608803
HP:0001260HP:0001260Dysarthria0GJC2 CL E G H57165613206Spastic paraplegia 44, autosomal recessive613206C2750784OMIM132317494608803
HP:0001260HP:0001260Dysarthria0GLRX5 CL E G H51218616859Spasticity, childhood-onset, with hyperglycinemia616859C4225178OMIM111120134609588
HP:0001260HP:0001260Dysarthria0GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM16164422607664
HP:0001260HP:0001260Dysarthria0GOSR2 CL E G H9570614018Epilepsy, progressive myoclonic 6614018C3279627OMIM13204431604027
HP:0001260HP:0001260Dysarthria0GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM15274446603048
HP:0001260HP:0001260Dysarthria0GPT2 CL E G H84706477673ANO5-Related DisordersCN239193ORPHA110918062138210
HP:0001260HP:0001260Dysarthria0GPT2 CL E G H84706616281Mental retardation, autosomal recessive 49616281C4225388OMIM110918062138210
HP:0001260HP:0001260Dysarthria0GRID2 CL E G H2895616204Spinocerebellar ataxia, autosomal recessive 18616204C4015505OMIM12414576602368
HP:0001260HP:0001260Dysarthria0GRM1 CL E G H2911617691SPINOCEREBELLAR ATAXIA 44617691C4521563OMIM12984593604473
HP:0001260HP:0001260Dysarthria0GRM1 CL E G H2911614831Spinocerebellar ataxia, autosomal recessive 13614831C3553816OMIM12984593604473
HP:0001260HP:0001260Dysarthria0GSS CL E G H2937266130Gluthathione synthetase deficiency266130C0398746OMIM12114624601002
HP:0001260HP:0001260Dysarthria0HACE1 CL E G H57531464282ORPHA122721033610876
HP:0001260HP:0001260Dysarthria0HEPACAM CL E G H220296613925Megalencephalic leukoencephalopathy with subcortical cysts 2a613925C3151355OMIM130426361611642
HP:0001260HP:0001260Dysarthria0HEXB CL E G H3074268800Sandhoff disease268800C0036161OMIM16284879606873
HP:0001260HP:0001260Dysarthria0HOXB1 CL E G H3211614744Hereditary congenital facial paresis 3614744C3553625OMIM1445111142968
HP:0001260HP:0001260Dysarthria0HPCA CL E G H320899657ORPHA1505144142622
HP:0001260HP:0001260Dysarthria0HPCA CL E G H3208224500Dystonia 2, torsion, autosomal recessive224500C1857093OMIM1505144142622
HP:0001260HP:0001260Dysarthria0HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0001260HP:0001260Dysarthria0HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12564800300256
HP:0001260HP:0001260Dysarthria0HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM12859476602194
HP:0001260HP:0001260Dysarthria0IFRD1 CL E G H347598771ORPHA1695456603502
HP:0001260HP:0001260Dysarthria0INPP5K CL E G H51763559ORPHA118733882607875
HP:0001260HP:0001260Dysarthria0IRF2BPL CL E G H64207618088NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES618088CN252701OMIM131214282611720
HP:0001260HP:0001260Dysarthria0ITPR1 CL E G H3708208513ORPHA115636180147265
HP:0001260HP:0001260Dysarthria0ITPR1 CL E G H3708606658Spinocerebellar ataxia 15606658C1847725OMIM115636180147265
HP:0001260HP:0001260Dysarthria0ITPR1 CL E G H3708117360Spinocerebellar ataxia 29117360C1861732OMIM115636180147265
HP:0001260HP:0001260Dysarthria0JPH3 CL E G H57338606438Huntington disease-like 2606438C1847987OMIM117614203605268
HP:0001260HP:0001260Dysarthria0KAT6B CL E G H23522648ORPHA1100317582605880
HP:0001260HP:0001260Dysarthria0KCNA1 CL E G H373637612ORPHA15756218176260
HP:0001260HP:0001260Dysarthria0KCNA1 CL E G H3736972ORPHA15756218176260
HP:0001260HP:0001260Dysarthria0KCNA1 CL E G H3736160120Episodic ataxia type 1160120C1719788OMIM15756218176260
HP:0001260HP:0001260Dysarthria0KCNA4 CL E G H3739618284618284618284OMIM1546222176266
HP:0001260HP:0001260Dysarthria0KCNC3 CL E G H374898768ORPHA13116235176264
HP:0001260HP:0001260Dysarthria0KCNC3 CL E G H3748605259Spinocerebellar ataxia 13605259C1854488OMIM13116235176264
HP:0001260HP:0001260Dysarthria0KCND3 CL E G H3752607346Spinocerebellar ataxia 19607346C1846367OMIM14676239605411
HP:0001260HP:0001260Dysarthria0KCTD17 CL E G H79734616398Dystonia 26, myoclonic616398C4225341OMIM114425705616386
HP:0001260HP:0001260Dysarthria0KCTD7 CL E G H154881263516ORPHA142721957611725
HP:0001260HP:0001260Dysarthria0KCTD7 CL E G H154881611726Epilepsy, progressive myoclonic 3611726C2673257OMIM142721957611725
HP:0001260HP:0001260Dysarthria0KIF1C CL E G H10749397946ORPHA15796317603060
HP:0001260HP:0001260Dysarthria0KIF1C CL E G H10749611302Ataxia, spastic, 2, autosomal recessive611302C1969796OMIM15796317603060
HP:0001260HP:0001260Dysarthria0KLC2 CL E G H64837320406ORPHA110420716611729
HP:0001260HP:0001260Dysarthria0KLC2 CL E G H64837609541Spastic paraplegia, optic atrophy, and neuropathy609541C1836010OMIM110420716611729
HP:0001260HP:0001260Dysarthria0KMT2B CL E G H9757617284Dystonia 28, childhood-onset617284C4310633OMIM1130315840606834
HP:0001260HP:0001260Dysarthria0KRAS CL E G H3845648ORPHA14806407190070
HP:0001260HP:0001260Dysarthria0LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0001260HP:0001260Dysarthria0LYRM7 CL E G H90624615838Mitochondrial complex III deficiency, nuclear type 8615838C4014440OMIM19228072615831
HP:0001260HP:0001260Dysarthria0LZTR1 CL E G H8216648ORPHA128596742600574
HP:0001260HP:0001260Dysarthria0MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM113516826609458
HP:0001260HP:0001260Dysarthria0MAPT CL E G H4137601104Progressive supranuclear ophthalmoplegia601104C0038868OMIM15816893157140
HP:0001260HP:0001260Dysarthria0MATR3 CL E G H9782600ORPHA14506912164015
HP:0001260HP:0001260Dysarthria0MATR3 CL E G H9782606070Amyotrophic lateral sclerosis 21606070C3807521OMIM14506912164015
HP:0001260HP:0001260Dysarthria0MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM115119691608205
HP:0001260HP:0001260Dysarthria0MED13L CL E G H23389616789Mental retardation and distinctive facial features with or without cardiac defects616789C4225208OMIM1104722962608771
HP:0001260HP:0001260Dysarthria0MICOS13 CL E G H12598867047ORPHA13433702616658
HP:0001260HP:0001260Dysarthria0MME CL E G H4311497764ORPHA15777154120520
HP:0001260HP:0001260Dysarthria0MME CL E G H4311617018Spinocerebellar ataxia 43617018C4310763OMIM15777154120520
HP:0001260HP:0001260Dysarthria0MMUT CL E G H459479312ORPHA18967526609058
HP:0001260HP:0001260Dysarthria0MRE11 CL E G H4361251347ORPHA119117230600814
HP:0001260HP:0001260Dysarthria0MRE11 CL E G H4361604391Ataxia-telangiectasia-like disorder 1604391C1858391OMIM119117230600814
HP:0001260HP:0001260Dysarthria0MT-ATP6 CL E G H4508225154ORPHA17414516060
HP:0001260HP:0001260Dysarthria0MTFMT CL E G H123263255241ORPHA124329666611766
HP:0001260HP:0001260Dysarthria0MTPAP CL E G H55149254343ORPHA134625532613669
HP:0001260HP:0001260Dysarthria0MTPAP CL E G H55149613672Ataxia, spastic, 4, autosomal recessive613672C3150925OMIM134625532613669
HP:0001260HP:0001260Dysarthria0MYOT CL E G H949998911ORPHA137212399604103
HP:0001260HP:0001260Dysarthria0NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0001260HP:0001260Dysarthria0NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0001260HP:0001260Dysarthria0NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0001260HP:0001260Dysarthria0NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0001260HP:0001260Dysarthria0NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0001260HP:0001260Dysarthria0NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0001260HP:0001260Dysarthria0NDUFA9 CL E G H4704618247MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26618247OMIM12357693603834
HP:0001260HP:0001260Dysarthria0NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0001260HP:0001260Dysarthria0NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0001260HP:0001260Dysarthria0NDUFAF5 CL E G H79133618238MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16618238OMIM138315899612360
HP:0001260HP:0001260Dysarthria0NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0001260HP:0001260Dysarthria0NDUFAF6 CL E G H137682618239MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17618239OMIM128128625612392
HP:0001260HP:0001260Dysarthria0NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0001260HP:0001260Dysarthria0NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0001260HP:0001260Dysarthria0NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0001260HP:0001260Dysarthria0NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0001260HP:0001260Dysarthria0NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0001260HP:0001260Dysarthria0NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM12157714601825
HP:0001260HP:0001260Dysarthria0NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0001260HP:0001260Dysarthria0NDUFS8 CL E G H4728618222MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2618222OMIM11297715602141
HP:0001260HP:0001260Dysarthria0NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0001260HP:0001260Dysarthria0NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0001260HP:0001260Dysarthria0NKX2-1 CL E G H7080610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress610978C1970269OMIM131711825600635
HP:0001260HP:0001260Dysarthria0NKX6-2 CL E G H84504527497ORPHA123319321605955
HP:0001260HP:0001260Dysarthria0NKX6-2 CL E G H84504617560SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY617560C4479653OMIM123319321605955
HP:0001260HP:0001260Dysarthria0NOP56 CL E G H10528276198ORPHA16715911614154
HP:0001260HP:0001260Dysarthria0NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM121097897607623
HP:0001260HP:0001260Dysarthria0NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM123214537601015
HP:0001260HP:0001260Dysarthria0NR4A2 CL E G H4929168600Parkinson disease, late-onset168600C3160718OMIM11437981601828
HP:0001260HP:0001260Dysarthria0NRAS CL E G H4893648ORPHA12817989164790
HP:0001260HP:0001260Dysarthria0NSUN2 CL E G H54888611091Mental retardation, autosomal recessive 5611091C1970199OMIM156625994610916
HP:0001260HP:0001260Dysarthria0NUBPL CL E G H80224618242MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21618242OMIM128420278613621
HP:0001260HP:0001260Dysarthria0NUP62 CL E G H23636225154ORPHA11618066605815
HP:0001260HP:0001260Dysarthria0OPA3 CL E G H8020767047ORPHA15238142606580
HP:0001260HP:0001260Dysarthria0OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM15238142606580
HP:0001260HP:0001260Dysarthria0OPTN CL E G H10133613435Amyotrophic lateral sclerosis type 12613435C3150692OMIM142817142602432
HP:0001260HP:0001260Dysarthria0PABPN1 CL E G H8106164300Oculopharyngeal muscular dystrophy164300C0270952OMIM1858565602279
HP:0001260HP:0001260Dysarthria0PANK2 CL E G H80025216866ORPHA149915894606157
HP:0001260HP:0001260Dysarthria0PANK2 CL E G H80025216873ORPHA149915894606157
HP:0001260HP:0001260Dysarthria0PANK2 CL E G H80025607236Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration607236C1846582OMIM149915894606157
HP:0001260HP:0001260Dysarthria0PANK2 CL E G H80025234200Pigmentary pallidal degeneration234200C0018523OMIM149915894606157
HP:0001260HP:0001260Dysarthria0PCNA CL E G H5111615919Ataxia-telangiectasia-like disorder 2615919C4014676OMIM1488729176740
HP:0001260HP:0001260Dysarthria0PDE10A CL E G H10846494526ORPHA12228772610652
HP:0001260HP:0001260Dysarthria0PDE10A CL E G H10846616921Dyskinesia, limb and orofacial, infantile-onset616921C4310792OMIM12228772610652
HP:0001260HP:0001260Dysarthria0PDE8B CL E G H8622228169Autosomal dominant striatal neurodegenerationC1836694ORPHA12438794603390
HP:0001260HP:0001260Dysarthria0PDE8B CL E G H8622609161Striatal degeneration, autosomal dominant 1609161C4310808OMIM12438794603390
HP:0001260HP:0001260Dysarthria0PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM11518800190040
HP:0001260HP:0001260Dysarthria0PDGFB CL E G H5155615483Idiopathic basal ganglia calcification 5615483C3809645OMIM11518800190040
HP:0001260HP:0001260Dysarthria0PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM15318804173410
HP:0001260HP:0001260Dysarthria0PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0001260HP:0001260Dysarthria0PDYN CL E G H5173101108ORPHA12008820131340
HP:0001260HP:0001260Dysarthria0PDYN CL E G H5173610245Spinocerebellar ataxia 23610245C1853250OMIM12008820131340
HP:0001260HP:0001260Dysarthria0PET100 CL E G H100131801255241ORPHA17640038614770
HP:0001260HP:0001260Dysarthria0PEX10 CL E G H5192247815ORPHA18038851602859
HP:0001260HP:0001260Dysarthria0PEX10 CL E G H5192614871Peroxisome biogenesis disorder 6B614871C3553948OMIM18038851602859
HP:0001260HP:0001260Dysarthria0PEX16 CL E G H9409614877Peroxisome biogenesis disorder 8B614877C3553960OMIM14708857603360
HP:0001260HP:0001260Dysarthria0PEX2 CL E G H5828614867Peroxisome biogenesis disorder 5B614867C3542026OMIM14639717170993
HP:0001260HP:0001260Dysarthria0PFN1 CL E G H5216614808Amyotrophic lateral sclerosis 18614808C3553719OMIM11018881176610
HP:0001260HP:0001260Dysarthria0PGM3 CL E G H5238615816Immunodeficiency 23615816C4014371OMIM13598907172100
HP:0001260HP:0001260Dysarthria0PIK3R5 CL E G H23533615217Ataxia-oculomotor apraxia 3615217C3554690OMIM19030035611317
HP:0001260HP:0001260Dysarthria0PLA2G6 CL E G H8398199351ORPHA17759039603604
HP:0001260HP:0001260Dysarthria0PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001260HP:0001260Dysarthria0PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM17759039603604
HP:0001260HP:0001260Dysarthria0PLD3 CL E G H23646617770SPINOCEREBELLAR ATAXIA 46617770C4540404OMIM111017158615698
HP:0001260HP:0001260Dysarthria0PLEKHG4 CL E G H2589498765ORPHA19724501609526
HP:0001260HP:0001260Dysarthria0PLP1 CL E G H5354312080Pelizaeus-Merzbacher disease312080C0205711OMIM14519086300401
HP:0001260HP:0001260Dysarthria0PLP1 CL E G H5354312920Spastic paraplegia 2312920C1839264OMIM14519086300401
HP:0001260HP:0001260Dysarthria0PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM120518667613036
HP:0001260HP:0001260Dysarthria0PNKD CL E G H25953118800Paroxysmal nonkinesigenic dyskinesia 1118800OMIM15219153609023
HP:0001260HP:0001260Dysarthria0PNPLA8 CL E G H50640251950Mitochondrial myopathy with lactic acidosis251950C1855033OMIM127128900612123
HP:0001260HP:0001260Dysarthria0POLG CL E G H542870595ORPHA123249179174763
HP:0001260HP:0001260Dysarthria0POLG CL E G H5428157640Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1157640C1834846OMIM123249179174763
HP:0001260HP:0001260Dysarthria0POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM123249179174763
HP:0001260HP:0001260Dysarthria0POLG CL E G H5428607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM123249179174763
HP:0001260HP:0001260Dysarthria0POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM1102530074614258
HP:0001260HP:0001260Dysarthria0POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM151030348614366
HP:0001260HP:0001260Dysarthria0POLR3B CL E G H55703614381Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism614381C3280644OMIM151030348614366
HP:0001260HP:0001260Dysarthria0PPP1R15B CL E G H84919616817Microcephaly, short stature, and impaired glucose metabolism 2616817C4225195OMIM113414951613257
HP:0001260HP:0001260Dysarthria0PPP2R2B CL E G H5521604326Spinocerebellar ataxia 12604326C1858501OMIM1719305604325
HP:0001260HP:0001260Dysarthria0PRDM8 CL E G H56978324290ORPHA143913993616639
HP:0001260HP:0001260Dysarthria0PRDM8 CL E G H56978616640Epilepsy, progressive myoclonic, 10616640C4225258OMIM143913993616639
HP:0001260HP:0001260Dysarthria0PRICKLE1 CL E G H144165308ORPHA157017019608500
HP:0001260HP:0001260Dysarthria0PRICKLE1 CL E G H144165612437Progressive myoclonus epilepsy with ataxia612437C2676254OMIM157017019608500
HP:0001260HP:0001260Dysarthria0PRKCG CL E G H5582605361Spinocerebellar ataxia 14605361C1854369OMIM13239402176980
HP:0001260HP:0001260Dysarthria0PRKRA CL E G H8575210571ORPHA11929438603424
HP:0001260HP:0001260Dysarthria0PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0001260HP:0001260Dysarthria0PRNP CL E G H5621157941ORPHA11919449176640
HP:0001260HP:0001260Dysarthria0PRNP CL E G H5621600072Fatal familial insomnia600072C0206042OMIM11919449176640
HP:0001260HP:0001260Dysarthria0PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11919449176640
HP:0001260HP:0001260Dysarthria0PRNP CL E G H5621603218Huntington disease-like 1603218C1864112OMIM11919449176640
HP:0001260HP:0001260Dysarthria0PSAP CL E G H5660309271ORPHA17729498176801
HP:0001260HP:0001260Dysarthria0PSAP CL E G H5660309256ORPHA17729498176801
HP:0001260HP:0001260Dysarthria0PSAP CL E G H5660309263ORPHA17729498176801
HP:0001260HP:0001260Dysarthria0PSAP CL E G H5660249900Sphingolipid activator protein 1 deficiency249900C0268262OMIM17729498176801
HP:0001260HP:0001260Dysarthria0PSEN1 CL E G H5663607822Alzheimer disease, type 3607822C1843013OMIM15019508104311
HP:0001260HP:0001260Dysarthria0PTPN11 CL E G H5781648ORPHA18549644176876
HP:0001260HP:0001260Dysarthria0PUM1 CL E G H9698617931SPINOCEREBELLAR ATAXIA 47617931CN244564OMIM117514957607204
HP:0001260HP:0001260Dysarthria0RAB39B CL E G H116442311510Parkinsonism, early onset with mental retardation311510C0796195OMIM132016499300774
HP:0001260HP:0001260Dysarthria0RAF1 CL E G H5894648ORPHA19909829164760
HP:0001260HP:0001260Dysarthria0RAI1 CL E G H107431713ORPHA116089834607642
HP:0001260HP:0001260Dysarthria0RANBP2 CL E G H590388619ORPHA113729848601181
HP:0001260HP:0001260Dysarthria0RARS CL E G H5917616140Leukodystrophy, hypomyelinating, 9616140C4015323OMIM19870107820
HP:0001260HP:0001260Dysarthria0RASA2 CL E G H5922648ORPHA15339872601589
HP:0001260HP:0001260Dysarthria0REEP1 CL E G H65055610250Spastic paraplegia 31, autosomal dominant610250C1853247OMIM143425786609139
HP:0001260HP:0001260Dysarthria0REPS1 CL E G H85021617916NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7617916CN895590OMIM115615578614825
HP:0001260HP:0001260Dysarthria0RERE CL E G H473616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart616975C4310772OMIM16599965605226
HP:0001260HP:0001260Dysarthria0RIT1 CL E G H6016648ORPHA126910023609591
HP:0001260HP:0001260Dysarthria0RNASEH1 CL E G H246243329336ORPHA118918466604123
HP:0001260HP:0001260Dysarthria0RNASEH1 CL E G H246243616479Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2616479C4225312OMIM118918466604123
HP:0001260HP:0001260Dysarthria0RNF216 CL E G H54476212840Gordon Holmes syndrome212840C1859305OMIM129721698609948
HP:0001260HP:0001260Dysarthria0RNU12 CL E G H267010512260ORPHA117193800
HP:0001260HP:0001260Dysarthria0RPIA CL E G H22934608611Deficiency of ribose-5-phosphate isomerase608611C1291609OMIM111210297180430
HP:0001260HP:0001260Dysarthria0RRAS CL E G H6237648ORPHA126010447165090
HP:0001260HP:0001260Dysarthria0RRM2B CL E G H50484329336ORPHA135417296604712
HP:0001260HP:0001260Dysarthria0RRM2B CL E G H50484613077Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5613077C2751319OMIM135417296604712
HP:0001260HP:0001260Dysarthria0RUBCN CL E G H9711404499ORPHA116228991613516
HP:0001260HP:0001260Dysarthria0RUBCN CL E G H9711615705Spinocerebellar ataxia, autosomal recessive 15615705C3810326OMIM116228991613516
HP:0001260HP:0001260Dysarthria0SACS CL E G H2627898ORPHA1337710519604490
HP:0001260HP:0001260Dysarthria0SACS CL E G H26278270550Spastic ataxia Charlevoix-Saguenay type270550C1849140OMIM1337710519604490
HP:0001260HP:0001260Dysarthria0SAMD9L CL E G H219285159550Myelocerebellar disorder159550C1327919OMIM17131349611170
HP:0001260HP:0001260Dysarthria0SCARB2 CL E G H950308ORPHA14741665602257
HP:0001260HP:0001260Dysarthria0SCARB2 CL E G H950254900Epilepsy, progressive myoclonic 4, with or without renal failure254900C0751779OMIM14741665602257
HP:0001260HP:0001260Dysarthria0SCO2 CL E G H9997521411ORPHA170110604604272
HP:0001260HP:0001260Dysarthria0SDHA CL E G H6389255241ORPHA1250310680600857
HP:0001260HP:0001260Dysarthria0SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0001260HP:0001260Dysarthria0SERPINI1 CL E G H5274604218Encephalopathy, familial, with neuroserpin inclusion bodies604218C1858680OMIM13108943602445
HP:0001260HP:0001260Dysarthria0SIGMAR1 CL E G H10280300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA12478157601978
HP:0001260HP:0001260Dysarthria0SIL1 CL E G H64374559ORPHA135224624608005
HP:0001260HP:0001260Dysarthria0SIL1 CL E G H64374248800Marinesco-Sjögren syndrome248800C0024814OMIM135224624608005
HP:0001260HP:0001260Dysarthria0SLC16A2 CL E G H6567300523Allan-Herndon-Dudley syndrome300523C0795889OMIM142710923300095
HP:0001260HP:0001260Dysarthria0SLC17A5 CL E G H26503604369Salla disease604369C1096903OMIM152010933604322
HP:0001260HP:0001260Dysarthria0SLC18A2 CL E G H6571352649ORPHA118310935193001
HP:0001260HP:0001260Dysarthria0SLC18A2 CL E G H6571618049PARKINSONISM-DYSTONIA, INFANTILE, 2618049CN248785OMIM118310935193001
HP:0001260HP:0001260Dysarthria0SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0001260HP:0001260Dysarthria0SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0001260HP:0001260Dysarthria0SLC1A3 CL E G H6507612656Episodic ataxia, type 6612656C2675211OMIM126610941600111
HP:0001260HP:0001260Dysarthria0SLC20A2 CL E G H6575213600Idiopathic basal ganglia calcification 1213600C0393590OMIM133710947158378
HP:0001260HP:0001260Dysarthria0SLC2A1 CL E G H651353583ORPHA196511005138140
HP:0001260HP:0001260Dysarthria0SLC2A1 CL E G H651371277ORPHA196511005138140
HP:0001260HP:0001260Dysarthria0SLC2A1 CL E G H6513601042Dystonia 9601042C1832855OMIM196511005138140
HP:0001260HP:0001260Dysarthria0SLC2A1 CL E G H6513606777GLUT1 deficiency syndrome 1606777CN030711OMIM196511005138140
HP:0001260HP:0001260Dysarthria0SLC30A10 CL E G H55532309854ORPHA127525355611146
HP:0001260HP:0001260Dysarthria0SLC30A10 CL E G H55532613280Hypermanganesemia with dystonia 1613280OMIM127525355611146
HP:0001260HP:0001260Dysarthria0SLC35A1 CL E G H10559603585Congenital disorder of glycosylation type 2F603585C1970344OMIM112511021605634
HP:0001260HP:0001260Dysarthria0SLC52A2 CL E G H7958197229ORPHA152030224607882
HP:0001260HP:0001260Dysarthria0SLC52A3 CL E G H11327897229ORPHA146416187613350
HP:0001260HP:0001260Dysarthria0SLC6A1 CL E G H65291942ORPHA180911042137165
HP:0001260HP:0001260Dysarthria0SLC9A1 CL E G H6548616291Lichtenstein-knorr syndrome616291C4225383OMIM116211071107310
HP:0001260HP:0001260Dysarthria0SMS CL E G H6611309583Snyder Robinson syndrome309583C0796160OMIM129411123300105
HP:0001260HP:0001260Dysarthria0SNAP25 CL E G H6616616330Myasthenic syndrome, congenital, 18616330C4225364OMIM121811132600322
HP:0001260HP:0001260Dysarthria0SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM119311138163890
HP:0001260HP:0001260Dysarthria0SNCAIP CL E G H9627168600Parkinson disease, late-onset168600C3160718OMIM116011139603779
HP:0001260HP:0001260Dysarthria0SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM118932952616663
HP:0001260HP:0001260Dysarthria0SOS1 CL E G H6654648ORPHA1150311187182530
HP:0001260HP:0001260Dysarthria0SOS2 CL E G H6655648ORPHA1125011188601247
HP:0001260HP:0001260Dysarthria0SPART CL E G H23111275900Troyer syndrome275900C0393559OMIM135318514607111
HP:0001260HP:0001260Dysarthria0SPG11 CL E G H80208602099Amyotrophic lateral sclerosis type 5602099C1865864OMIM1262511226610844
HP:0001260HP:0001260Dysarthria0SPG11 CL E G H802082822Hyperinsulinism, focalORPHA1262511226610844
HP:0001260HP:0001260Dysarthria0SPG11 CL E G H80208300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1262511226610844
HP:0001260HP:0001260Dysarthria0SPG11 CL E G H80208604360Spastic paraplegia 11, autosomal recessive604360C1858479OMIM1262511226610844
HP:0001260HP:0001260Dysarthria0SPG7 CL E G H6687607259Spastic paraplegia 7607259C1846564OMIM196611237602783
HP:0001260HP:0001260Dysarthria0SPR CL E G H6697612716Sepiapterin reductase deficiency612716C0268468OMIM119811257182125
HP:0001260HP:0001260Dysarthria0SPTBN2 CL E G H6712352403ORPHA193811276604985
HP:0001260HP:0001260Dysarthria0SPTBN2 CL E G H6712600224Spinocerebellar ataxia 5600224C0752123OMIM193811276604985
HP:0001260HP:0001260Dysarthria0SQSTM1 CL E G H8878275872ORPHA167711280601530
HP:0001260HP:0001260Dysarthria0SQSTM1 CL E G H8878616437Frontotemporal dementia and/or amyotrophic lateral sclerosis 3616437C4225326OMIM167711280601530
HP:0001260HP:0001260Dysarthria0SQSTM1 CL E G H8878617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset617145C4310693OMIM167711280601530
HP:0001260HP:0001260Dysarthria0STUB1 CL E G H10273412057ORPHA122611427607207
HP:0001260HP:0001260Dysarthria0STUB1 CL E G H10273618093SPINOCEREBELLAR ATAXIA 48618093OMIM122611427607207
HP:0001260HP:0001260Dysarthria0STUB1 CL E G H10273615768Spinocerebellar ataxia, autosomal recessive 16615768C4014261OMIM122611427607207
HP:0001260HP:0001260Dysarthria0SUFU CL E G H51684617757JOUBERT SYNDROME 32617757C4540342OMIM1130616466607035
HP:0001260HP:0001260Dysarthria0SURF1 CL E G H6834255241ORPHA153211474185620
HP:0001260HP:0001260Dysarthria0SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0001260HP:0001260Dysarthria0SYNE1 CL E G H23345610743Spinocerebellar ataxia, autosomal recessive 8610743C1853116OMIM1578917089608441
HP:0001260HP:0001260Dysarthria0SYNJ1 CL E G H8867615530Parkinson disease 20, early-onset615530C3809824OMIM1131511503604297
HP:0001260HP:0001260Dysarthria0SYT14 CL E G H255928284271ORPHA110423143610949
HP:0001260HP:0001260Dysarthria0SYT14 CL E G H255928614229Spinocerebellar ataxia, autosomal recessive 11614229C3280226OMIM110423143610949
HP:0001260HP:0001260Dysarthria0TACO1 CL E G H51204255241ORPHA111724316612958
HP:0001260HP:0001260Dysarthria0TANGO2 CL E G H128989616878TANGO2-Related Metabolic Encephalopathy and Arrhythmias616878C4225171OMIM171525439616830
HP:0001260HP:0001260Dysarthria0TARDBP CL E G H23435275872ORPHA130911571605078
HP:0001260HP:0001260Dysarthria0TARDBP CL E G H23435612069Amyotrophic lateral sclerosis type 10612069C2677565OMIM130911571605078
HP:0001260HP:0001260Dysarthria0TBC1D23 CL E G H55773617695PONTOCEREBELLAR HYPOPLASIA, TYPE 11617695C4540164OMIM19025622617687
HP:0001260HP:0001260Dysarthria0TBC1D24 CL E G H57465605021Myoclonic epilepsy, familial infantile605021C0917800OMIM189329203613577
HP:0001260HP:0001260Dysarthria0TBCE CL E G H6905496756ORPHA145611582604934
HP:0001260HP:0001260Dysarthria0TBCE CL E G H6905617207Encephalopathy, progressive, with amyotrophy and optic atrophy617207C4310667OMIM145611582604934
HP:0001260HP:0001260Dysarthria0TBK1 CL E G H29110275872ORPHA138211584604834
HP:0001260HP:0001260Dysarthria0TBK1 CL E G H29110616439Frontotemporal dementia and/or amyotrophic lateral sclerosis 4616439C4225325OMIM138211584604834
HP:0001260HP:0001260Dysarthria0TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM113111588600075
HP:0001260HP:0001260Dysarthria0TECPR2 CL E G H9895320385ORPHA1113719957615000
HP:0001260HP:0001260Dysarthria0TECPR2 CL E G H9895615031Spastic paraplegia 49, autosomal recessive615031C3542549OMIM1113719957615000
HP:0001260HP:0001260Dysarthria0TGM6 CL E G H343641613908Spinocerebellar ataxia 35613908C3888031OMIM139316255613900
HP:0001260HP:0001260Dysarthria0THAP1 CL E G H5514598806ORPHA120620856609520
HP:0001260HP:0001260Dysarthria0THAP1 CL E G H55145602629Dystonia 6, torsion602629C1414216OMIM120620856609520
HP:0001260HP:0001260Dysarthria0TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0001260HP:0001260Dysarthria0TK2 CL E G H7084617069Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3617069C4310734OMIM144211831188250
HP:0001260HP:0001260Dysarthria0TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0001260HP:0001260Dysarthria0TMEM240 CL E G H33945398773ORPHA123725186616101
HP:0001260HP:0001260Dysarthria0TMEM240 CL E G H339453607454Spinocerebellar ataxia 21607454C1843891OMIM123725186616101
HP:0001260HP:0001260Dysarthria0TOP3A CL E G H7156618098PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5618098CN253818OMIM139011992601243
HP:0001260HP:0001260Dysarthria0TOR1A CL E G H1861128100Dystonia 1128100C1851945OMIM12203098605204
HP:0001260HP:0001260Dysarthria0TPP1 CL E G H1200284324ORPHA110232073607998
HP:0001260HP:0001260Dysarthria0TPP1 CL E G H1200609270Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia609270C1836474OMIM110232073607998
HP:0001260HP:0001260Dysarthria0TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM198325751614138
HP:0001260HP:0001260Dysarthria0TREX1 CL E G H11277247691ORPHA141812269606609
HP:0001260HP:0001260Dysarthria0TREX1 CL E G H11277192315Vasculopathy, retinal, with cerebral leukodystrophy192315C1860518OMIM141812269606609
HP:0001260HP:0001260Dysarthria0TRIM37 CL E G H4591253250Mulibrey nanism syndrome253250C0524582OMIM13747523605073
HP:0001260HP:0001260Dysarthria0TTBK2 CL E G H14605798767ORPHA133819141611695
HP:0001260HP:0001260Dysarthria0TTBK2 CL E G H146057604432Spinocerebellar ataxia 11604432C1858351OMIM133819141611695
HP:0001260HP:0001260Dysarthria0TTC19 CL E G H54902615157Mitochondrial complex III deficiency, nuclear type 2615157C3554605OMIM134326006613814
HP:0001260HP:0001260Dysarthria0TTPA CL E G H727496ORPHA138912404600415
HP:0001260HP:0001260Dysarthria0TTR CL E G H7276105210Amyloidogenic transthyretin amyloidosis105210C2751492OMIM137712405176300
HP:0001260HP:0001260Dysarthria0TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM127220774602662
HP:0001260HP:0001260Dysarthria0TWNK CL E G H5665270595ORPHA14501160606075
HP:0001260HP:0001260Dysarthria0TWNK CL E G H56652607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM14501160606075
HP:0001260HP:0001260Dysarthria0UBA5 CL E G H79876617133Spinocerebellar ataxia, autosomal recessive 24617133C4310699OMIM122323230610552
HP:0001260HP:0001260Dysarthria0UBQLN2 CL E G H29978300857Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia300857C3275459OMIM127312509300264
HP:0001260HP:0001260Dysarthria0UROC1 CL E G H131669210128ORPHA112226444613012
HP:0001260HP:0001260Dysarthria0VAMP1 CL E G H6843108600Ataxia, spastic, 1, autosomal dominant108600C1970107OMIM114112642185880
HP:0001260HP:0001260Dysarthria0VAPB CL E G H9217608627Amyotrophic lateral sclerosis type 8608627C1837728OMIM135912649605704
HP:0001260HP:0001260Dysarthria0VCP CL E G H7415275872ORPHA160712666601023
HP:0001260HP:0001260Dysarthria0VCP CL E G H7415613954Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia613954C3151403OMIM160712666601023
HP:0001260HP:0001260Dysarthria0VLDLR CL E G H7436224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1224050CN074243OMIM157512698192977
HP:0001260HP:0001260Dysarthria0VPS13A CL E G H232302388ORPHA123621908605978
HP:0001260HP:0001260Dysarthria0VPS13A CL E G H23230200150Choreoacanthocytosis200150C0393576OMIM123621908605978
HP:0001260HP:0001260Dysarthria0VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0001260HP:0001260Dysarthria0VWA3B CL E G H200403616948Spinocerebellar ataxia, autosomal recessive 22616948C4310781OMIM112628385614884
HP:0001260HP:0001260Dysarthria0WDR73 CL E G H8494283472ORPHA122025928616144
HP:0001260HP:0001260Dysarthria0WDR81 CL E G H124997610185Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2610185C2750234OMIM142026600614218
HP:0001260HP:0001260Dysarthria0WFS1 CL E G H74663463ORPHA1163412762606201
HP:0001260HP:0001260Dysarthria0WFS1 CL E G H7466222300Diabetes mellitus AND insipidus with optic atrophy AND deafness222300C0043207OMIM1163412762606201
HP:0001260HP:0001260Dysarthria0WWOX CL E G H51741284282ORPHA1110212799605131
HP:0001260HP:0001260Dysarthria0WWOX CL E G H51741614322Spinocerebellar ataxia, autosomal recessive 12614322C3280452OMIM1110212799605131
HP:0001260HP:0001260Dysarthria0XK CL E G H7504300842McLeod neuroacanthocytosis syndrome300842C0398568OMIM121812811314850
HP:0001260HP:0001260Dysarthria0XPR1 CL E G H9213616413Basal ganglia calcification, idiopathic, 6616413C4225335OMIM123412827605237
HP:0001260HP:0001260Dysarthria0XRCC1 CL E G H7515617633SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26617633C4539948OMIM18212828194360
HP:0001260HP:0001260Dysarthria0XRCC4 CL E G H7518616541Short stature, microcephaly, and endocrine dysfunction616541C4225288OMIM112912831194363
HP:0001260HP:0001260Dysarthria0ZFYVE26 CL E G H23503270700Spastic paraplegia 15270700C1849128OMIM1240820761612012
HP:0001260HP:0001260Dysarthria0ZNF592 CL E G H964083472ORPHA112828986613624
HP:0001260HP:0008376Nasal, dysarthic speech1A2ML1 CL E G H144568648ORPHA1140323336610627
HP:0001260HP:0002464Spastic dysarthria1A2ML1 CL E G H144568648ORPHA1140323336610627
HP:0001260HP:0007024Pseudobulbar paralysis1A2ML1 CL E G H144568648ORPHA1140323336610627
HP:0001260HP:0007024Pseudobulbar paralysis1AAAS CL E G H8086231550Glucocorticoid deficiency with achalasia231550C0271742OMIM121713666605378
HP:0001260HP:0008376Nasal, dysarthic speech1AAAS CL E G H8086231550Glucocorticoid deficiency with achalasia231550C0271742OMIM121713666605378
HP:0001260HP:0002464Spastic dysarthria1AAAS CL E G H8086231550Glucocorticoid deficiency with achalasia231550C0271742OMIM121713666605378
HP:0001260HP:0002464Spastic dysarthria1AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM154321022612035
HP:0001260HP:0007024Pseudobulbar paralysis1AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM154321022612035
HP:0001260HP:0008376Nasal, dysarthic speech1AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM154321022612035
HP:0001260HP:0007024Pseudobulbar paralysis1ABCB7 CL E G H22301310Anemia sideroblastic and spinocerebellar ataxia301310C1845028OMIM129948300135
HP:0001260HP:0008376Nasal, dysarthic speech1ABCB7 CL E G H22301310Anemia sideroblastic and spinocerebellar ataxia301310C1845028OMIM129948300135
HP:0001260HP:0002464Spastic dysarthria1ABCB7 CL E G H22301310Anemia sideroblastic and spinocerebellar ataxia301310C1845028OMIM129948300135
HP:0001260HP:0007024Pseudobulbar paralysis1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM152915868613599
HP:0001260HP:0008376Nasal, dysarthic speech1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM152915868613599
HP:0001260HP:0002464Spastic dysarthria1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM152915868613599
HP:0001260HP:0007024Pseudobulbar paralysis1ADA2 CL E G H51816182410Idiopathic livedo reticularis with systemic involvement182410C0282492OMIM15331839607575
HP:0001260HP:0008376Nasal, dysarthic speech1ADA2 CL E G H51816182410Idiopathic livedo reticularis with systemic involvement182410C0282492OMIM15331839607575
HP:0001260HP:0002464Spastic dysarthria1ADA2 CL E G H51816182410Idiopathic livedo reticularis with systemic involvement182410C0282492OMIM15331839607575
HP:0001260HP:0008376Nasal, dysarthic speech1ADAR CL E G H103225154ORPHA11122225146920
HP:0001260HP:0002464Spastic dysarthria1ADAR CL E G H103225154ORPHA11122225146920
HP:0001260HP:0007024Pseudobulbar paralysis1ADAR CL E G H103225154ORPHA11122225146920
HP:0001260HP:0008376Nasal, dysarthic speech1ADCY5 CL E G H111324588ORPHA1653236600293
HP:0001260HP:0002464Spastic dysarthria1ADCY5 CL E G H111324588ORPHA1653236600293
HP:0001260HP:0007024Pseudobulbar paralysis1ADCY5 CL E G H111324588ORPHA1653236600293
HP:0001260HP:0007024Pseudobulbar paralysis1ADCY5 CL E G H111606703Dyskinesia, familial, with facial myokymia606703C1847627OMIM1653236600293
HP:0001260HP:0008376Nasal, dysarthic speech1ADCY5 CL E G H111606703Dyskinesia, familial, with facial myokymia606703C1847627OMIM1653236600293
HP:0001260HP:0002464Spastic dysarthria1ADCY5 CL E G H111606703Dyskinesia, familial, with facial myokymia606703C1847627OMIM1653236600293
HP:0001260HP:0002464Spastic dysarthria1ADPRHL2 CL E G H54936618170NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES618170OMIM121304610624
HP:0001260HP:0007024Pseudobulbar paralysis1ADPRHL2 CL E G H54936618170NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES618170OMIM121304610624
HP:0001260HP:0008376Nasal, dysarthic speech1ADPRHL2 CL E G H54936618170NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES618170OMIM121304610624
HP:0001260HP:0008376Nasal, dysarthic speech1AFG3L2 CL E G H10939101109ORPHA1480315604581
HP:0001260HP:0002464Spastic dysarthria1AFG3L2 CL E G H10939101109ORPHA1480315604581
HP:0001260HP:0007024Pseudobulbar paralysis1AFG3L2 CL E G H10939101109ORPHA1480315604581
HP:0001260HP:0007024Pseudobulbar paralysis1AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1480315604581
HP:0001260HP:0008376Nasal, dysarthic speech1AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1480315604581
HP:0001260HP:0002464Spastic dysarthria1AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1480315604581
HP:0001260HP:0007024Pseudobulbar paralysis1AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1480315604581
HP:0001260HP:0008376Nasal, dysarthic speech1AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1480315604581
HP:0001260HP:0002464Spastic dysarthria1AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1480315604581
HP:0001260HP:0008376Nasal, dysarthic speech1ALDH18A1 CL E G H5832447760ORPHA15869722138250
HP:0001260HP:0002464Spastic dysarthria1ALDH18A1 CL E G H5832447760ORPHA15869722138250
HP:0001260HP:0007024Pseudobulbar paralysis1ALDH18A1 CL E G H5832447760ORPHA15869722138250
HP:0001260HP:0007024Pseudobulbar paralysis1ALDH18A1 CL E G H5832601162Spastic paraplegia 9601162C1832669OMIM15869722138250
HP:0001260HP:0008376Nasal, dysarthic speech1ALDH18A1 CL E G H5832601162Spastic paraplegia 9601162C1832669OMIM15869722138250
HP:0001260HP:0002464Spastic dysarthria1ALDH18A1 CL E G H5832601162Spastic paraplegia 9601162C1832669OMIM15869722138250
HP:0001260HP:0008376Nasal, dysarthic speech1ALDH3A2 CL E G H224816ORPHA1635403609523
HP:0001260HP:0002464Spastic dysarthria1ALDH3A2 CL E G H224816ORPHA1635403609523
HP:0001260HP:0007024Pseudobulbar paralysis1ALDH3A2 CL E G H224816ORPHA1635403609523
HP:0001260HP:0008376Nasal, dysarthic speech1ALS2 CL E G H57679293168ORPHA1947443606352
HP:0001260HP:0002464Spastic dysarthria1ALS2 CL E G H57679293168ORPHA1947443606352
HP:0001260HP:0007024Pseudobulbar paralysis1ALS2 CL E G H57679293168ORPHA1947443606352
HP:0001260HP:0007024Pseudobulbar paralysis1ALS2 CL E G H57679607225Infantile-onset ascending hereditary spastic paralysis607225C2931441OMIM1947443606352
HP:0001260HP:0008376Nasal, dysarthic speech1ALS2 CL E G H57679607225Infantile-onset ascending hereditary spastic paralysis607225C2931441OMIM1947443606352
HP:0001260HP:0002464Spastic dysarthria1ALS2 CL E G H57679607225Infantile-onset ascending hereditary spastic paralysis607225C2931441OMIM1947443606352
HP:0001260HP:0008376Nasal, dysarthic speech1ALS2 CL E G H57679300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1947443606352
HP:0001260HP:0002464Spastic dysarthria1ALS2 CL E G H57679300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1947443606352
HP:0001260HP:0007024Pseudobulbar paralysis1ALS2 CL E G H57679300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1947443606352
HP:0001260HP:0007024Pseudobulbar paralysis1AMACR CL E G H23600614307Alpha-methylacyl-CoA racemase deficiency614307C3280428OMIM1392451604489
HP:0001260HP:0008376Nasal, dysarthic speech1AMACR CL E G H23600614307Alpha-methylacyl-CoA racemase deficiency614307C3280428OMIM1392451604489
HP:0001260HP:0002464Spastic dysarthria1AMACR CL E G H23600614307Alpha-methylacyl-CoA racemase deficiency614307C3280428OMIM1392451604489
HP:0001260HP:0008376Nasal, dysarthic speech1ANO10 CL E G H55129284289ORPHA127025519613726
HP:0001260HP:0002464Spastic dysarthria1ANO10 CL E G H55129284289ORPHA127025519613726
HP:0001260HP:0007024Pseudobulbar paralysis1ANO10 CL E G H55129284289ORPHA127025519613726
HP:0001260HP:0007024Pseudobulbar paralysis1ANO10 CL E G H55129613728Spinocerebellar ataxia, autosomal recessive 10613728C3150998OMIM127025519613726
HP:0001260HP:0008376Nasal, dysarthic speech1ANO10 CL E G H55129613728Spinocerebellar ataxia, autosomal recessive 10613728C3150998OMIM127025519613726
HP:0001260HP:0002464Spastic dysarthria1ANO10 CL E G H55129613728Spinocerebellar ataxia, autosomal recessive 10613728C3150998OMIM127025519613726
HP:0001260HP:0007024Pseudobulbar paralysis1AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1403572607245
HP:0001260HP:0008376Nasal, dysarthic speech1AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1403572607245
HP:0001260HP:0002464Spastic dysarthria1AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1403572607245
HP:0001260HP:0007024Pseudobulbar paralysis1APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM133115984606350
HP:0001260HP:0008376Nasal, dysarthic speech1APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM133115984606350
HP:0001260HP:0002464Spastic dysarthria1APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM133115984606350
HP:0001260HP:0002464Spastic dysarthria1AR CL E G H367481ORPHA1649644313700
HP:0001260HP:0007024Pseudobulbar paralysis1AR CL E G H367481ORPHA1649644313700
HP:0001260HP:0008376Nasal, dysarthic speech1AR CL E G H367481ORPHA1649644313700
HP:0001260HP:0007024Pseudobulbar paralysis1AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1649644313700
HP:0001260HP:0008376Nasal, dysarthic speech1AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1649644313700
HP:0001260HP:0002464Spastic dysarthria1AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1649644313700
HP:0001260HP:0008376Nasal, dysarthic speech1ARSA CL E G H410309271ORPHA11140713607574
HP:0001260HP:0008376Nasal, dysarthic speech1ARSA CL E G H410309256ORPHA11140713607574
HP:0001260HP:0008376Nasal, dysarthic speech1ARSA CL E G H410309263ORPHA11140713607574
HP:0001260HP:0002464Spastic dysarthria1ARSA CL E G H410309271ORPHA11140713607574
HP:0001260HP:0002464Spastic dysarthria1ARSA CL E G H410309256ORPHA11140713607574
HP:0001260HP:0002464Spastic dysarthria1ARSA CL E G H410309263ORPHA11140713607574
HP:0001260HP:0007024Pseudobulbar paralysis1ARSA CL E G H410309271ORPHA11140713607574
HP:0001260HP:0007024Pseudobulbar paralysis1ARSA CL E G H410309256ORPHA11140713607574
HP:0001260HP:0007024Pseudobulbar paralysis1ARSA CL E G H410309263ORPHA11140713607574
HP:0001260HP:0007024Pseudobulbar paralysis1ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM11140713607574
HP:0001260HP:0008376Nasal, dysarthic speech1ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM11140713607574
HP:0001260HP:0002464Spastic dysarthria1ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM11140713607574
HP:0001260HP:0007024Pseudobulbar paralysis1ARX CL E G H170302309510Partington X-linked mental retardation syndrome309510C0796250OMIM181018060300382
HP:0001260HP:0008376Nasal, dysarthic speech1ARX CL E G H170302309510Partington X-linked mental retardation syndrome309510C0796250OMIM181018060300382
HP:0001260HP:0002464Spastic dysarthria1ARX CL E G H170302309510Partington X-linked mental retardation syndrome309510C0796250OMIM181018060300382
HP:0001260HP:0008376Nasal, dysarthic speech1ATCAY CL E G H8530094122ORPHA1209779608179
HP:0001260HP:0002464Spastic dysarthria1ATCAY CL E G H8530094122ORPHA1209779608179
HP:0001260HP:0007024Pseudobulbar paralysis1ATCAY CL E G H8530094122ORPHA1209779608179
HP:0001260HP:0007024Pseudobulbar paralysis1ATCAY CL E G H85300601238Cerebellar ataxia, Cayman type601238C1832585OMIM1209779608179
HP:0001260HP:0008376Nasal, dysarthic speech1ATCAY CL E G H85300601238Cerebellar ataxia, Cayman type601238C1832585OMIM1209779608179
HP:0001260HP:0002464Spastic dysarthria1ATCAY CL E G H85300601238Cerebellar ataxia, Cayman type601238C1832585OMIM1209779608179
HP:0001260HP:0002464Spastic dysarthria1ATM CL E G H472100ORPHA114692795607585
HP:0001260HP:0007024Pseudobulbar paralysis1ATM CL E G H472100ORPHA114692795607585
HP:0001260HP:0008376Nasal, dysarthic speech1ATM CL E G H472100ORPHA114692795607585
HP:0001260HP:0007024Pseudobulbar paralysis1ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM114692795607585
HP:0001260HP:0008376Nasal, dysarthic speech1ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM114692795607585
HP:0001260HP:0002464Spastic dysarthria1ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM114692795607585
HP:0001260HP:0002464Spastic dysarthria1ATN1 CL E G H1822101ORPHA12133033607462
HP:0001260HP:0007024Pseudobulbar paralysis1ATN1 CL E G H1822101ORPHA12133033607462
HP:0001260HP:0008376Nasal, dysarthic speech1ATN1 CL E G H1822101ORPHA12133033607462
HP:0001260HP:0008376Nasal, dysarthic speech1ATP13A2 CL E G H23400513436ORPHA197430213610513
HP:0001260HP:0002464Spastic dysarthria1ATP13A2 CL E G H23400513436ORPHA197430213610513
HP:0001260HP:0007024Pseudobulbar paralysis1ATP13A2 CL E G H23400513436ORPHA197430213610513
HP:0001260HP:0007024Pseudobulbar paralysis1ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM197430213610513
HP:0001260HP:0008376Nasal, dysarthic speech1ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM197430213610513
HP:0001260HP:0002464Spastic dysarthria1ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM197430213610513
HP:0001260HP:0002464Spastic dysarthria1ATP13A2 CL E G H23400617225Spastic paraplegia 78, autosomal recessive617225C4310662OMIM197430213610513
HP:0001260HP:0007024Pseudobulbar paralysis1ATP13A2 CL E G H23400617225Spastic paraplegia 78, autosomal recessive617225C4310662OMIM197430213610513
HP:0001260HP:0008376Nasal, dysarthic speech1ATP13A2 CL E G H23400617225Spastic paraplegia 78, autosomal recessive617225C4310662OMIM197430213610513
HP:0001260HP:0007024Pseudobulbar paralysis1ATP1A2 CL E G H477602481Familial hemiplegic migraine type 2602481C1865322OMIM11117800182340
HP:0001260HP:0008376Nasal, dysarthic speech1ATP1A2 CL E G H477602481Familial hemiplegic migraine type 2602481C1865322OMIM11117800182340
HP:0001260HP:0002464Spastic dysarthria1ATP1A2 CL E G H477602481Familial hemiplegic migraine type 2602481C1865322OMIM11117800182340
HP:0001260HP:0008376Nasal, dysarthic speech1ATP1A3 CL E G H47871517ORPHA1993801182350
HP:0001260HP:0002464Spastic dysarthria1ATP1A3 CL E G H47871517ORPHA1993801182350
HP:0001260HP:0007024Pseudobulbar paralysis1ATP1A3 CL E G H47871517ORPHA1993801182350
HP:0001260HP:0007024Pseudobulbar paralysis1ATP1A3 CL E G H478614820Alternating hemiplegia of childhood 2614820C3553788OMIM1993801182350
HP:0001260HP:0008376Nasal, dysarthic speech1ATP1A3 CL E G H478614820Alternating hemiplegia of childhood 2614820C3553788OMIM1993801182350
HP:0001260HP:0002464Spastic dysarthria1ATP1A3 CL E G H478614820Alternating hemiplegia of childhood 2614820C3553788OMIM1993801182350
HP:0001260HP:0007024Pseudobulbar paralysis1ATP1A3 CL E G H478601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss601338C1832466OMIM1993801182350
HP:0001260HP:0008376Nasal, dysarthic speech1ATP1A3 CL E G H478601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss601338C1832466OMIM1993801182350
HP:0001260HP:0002464Spastic dysarthria1ATP1A3 CL E G H478601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss601338C1832466OMIM1993801182350
HP:0001260HP:0007024Pseudobulbar paralysis1ATP1A3 CL E G H478128235Dystonia 12128235C1868681OMIM1993801182350
HP:0001260HP:0008376Nasal, dysarthic speech1ATP1A3 CL E G H478128235Dystonia 12128235C1868681OMIM1993801182350
HP:0001260HP:0002464Spastic dysarthria1ATP1A3 CL E G H478128235Dystonia 12128235C1868681OMIM1993801182350
HP:0001260HP:0007024Pseudobulbar paralysis1ATP2B3 CL E G H492302500Spinocerebellar ataxia, X-linked 1302500C0796205OMIM1352816300014
HP:0001260HP:0008376Nasal, dysarthic speech1ATP2B3 CL E G H492302500Spinocerebellar ataxia, X-linked 1302500C0796205OMIM1352816300014
HP:0001260HP:0002464Spastic dysarthria1ATP2B3 CL E G H492302500Spinocerebellar ataxia, X-linked 1302500C0796205OMIM1352816300014
HP:0001260HP:0008376Nasal, dysarthic speech1ATP7B CL E G H540905ORPHA12303870606882
HP:0001260HP:0002464Spastic dysarthria1ATP7B CL E G H540905ORPHA12303870606882
HP:0001260HP:0007024Pseudobulbar paralysis1ATP7B CL E G H540905ORPHA12303870606882
HP:0001260HP:0007024Pseudobulbar paralysis1ATP7B CL E G H540277900Wilson disease277900C0019202OMIM12303870606882
HP:0001260HP:0008376Nasal, dysarthic speech1ATP7B CL E G H540277900Wilson disease277900C0019202OMIM12303870606882
HP:0001260HP:0002464Spastic dysarthria1ATP7B CL E G H540277900Wilson disease277900C0019202OMIM12303870606882
HP:0001260HP:0007024Pseudobulbar paralysis1ATP8A2 CL E G H51761615268Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4615268C3808977OMIM144413533605870
HP:0001260HP:0008376Nasal, dysarthic speech1ATP8A2 CL E G H51761615268Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4615268C3808977OMIM144413533605870
HP:0001260HP:0002464Spastic dysarthria1ATP8A2 CL E G H51761615268Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4615268C3808977OMIM144413533605870
HP:0001260HP:0008376Nasal, dysarthic speech1ATXN1 CL E G H631098755ORPHA112010548601556
HP:0001260HP:0002464Spastic dysarthria1ATXN1 CL E G H631098755ORPHA112010548601556
HP:0001260HP:0007024Pseudobulbar paralysis1ATXN1 CL E G H631098755ORPHA112010548601556
HP:0001260HP:0007024Pseudobulbar paralysis1ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM112010548601556
HP:0001260HP:0008376Nasal, dysarthic speech1ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM112010548601556
HP:0001260HP:0002464Spastic dysarthria1ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM112010548601556
HP:0001260HP:0008376Nasal, dysarthic speech1ATXN10 CL E G H2581498761ORPHA111610549611150
HP:0001260HP:0002464Spastic dysarthria1ATXN10 CL E G H2581498761ORPHA111610549611150
HP:0001260HP:0007024Pseudobulbar paralysis1ATXN10 CL E G H2581498761ORPHA111610549611150
HP:0001260HP:0007024Pseudobulbar paralysis1ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM111610549611150
HP:0001260HP:0008376Nasal, dysarthic speech1ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM111610549611150
HP:0001260HP:0002464Spastic dysarthria1ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM111610549611150
HP:0001260HP:0008376Nasal, dysarthic speech1ATXN2 CL E G H631198756ORPHA111510555601517
HP:0001260HP:0002464Spastic dysarthria1ATXN2 CL E G H631198756ORPHA111510555601517
HP:0001260HP:0007024Pseudobulbar paralysis1ATXN2 CL E G H631198756ORPHA111510555601517
HP:0001260HP:0007024Pseudobulbar paralysis1ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM111510555601517
HP:0001260HP:0008376Nasal, dysarthic speech1ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM111510555601517
HP:0001260HP:0002464Spastic dysarthria1ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM111510555601517
HP:0001260HP:0008376Nasal, dysarthic speech1ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0001260HP:0008376Nasal, dysarthic speech1ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0001260HP:0008376Nasal, dysarthic speech1ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0001260HP:0002464Spastic dysarthria1ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0001260HP:0002464Spastic dysarthria1ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0001260HP:0002464Spastic dysarthria1ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0001260HP:0007024Pseudobulbar paralysis1ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0001260HP:0007024Pseudobulbar paralysis1ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0001260HP:0007024Pseudobulbar paralysis1ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0001260HP:0008376Nasal, dysarthic speech1ATXN7 CL E G H631494147ORPHA19810560607640
HP:0001260HP:0002464Spastic dysarthria1ATXN7 CL E G H631494147ORPHA19810560607640
HP:0001260HP:0007024Pseudobulbar paralysis1ATXN7 CL E G H631494147ORPHA19810560607640
HP:0001260HP:0007024Pseudobulbar paralysis1ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0001260HP:0008376Nasal, dysarthic speech1ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0001260HP:0002464Spastic dysarthria1ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0001260HP:0007024Pseudobulbar paralysis1ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM18710561603680
HP:0001260HP:0008376Nasal, dysarthic speech1ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM18710561603680
HP:0001260HP:0002464Spastic dysarthria1ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM18710561603680
HP:0001260HP:0007024Pseudobulbar paralysis1AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM1249890600529
HP:0001260HP:0008376Nasal, dysarthic speech1AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM1249890600529
HP:0001260HP:0002464Spastic dysarthria1AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM1249890600529
HP:0001260HP:0007024Pseudobulbar paralysis1B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM12954117601873
HP:0001260HP:0008376Nasal, dysarthic speech1B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM12954117601873
HP:0001260HP:0002464Spastic dysarthria1B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM12954117601873
HP:0001260HP:0007024Pseudobulbar paralysis1BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0001260HP:0008376Nasal, dysarthic speech1BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0001260HP:0002464Spastic dysarthria1BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0001260HP:0008376Nasal, dysarthic speech1BEAN1 CL E G H146227217012ORPHA15624160612051
HP:0001260HP:0002464Spastic dysarthria1BEAN1 CL E G H146227217012ORPHA15624160612051
HP:0001260HP:0007024Pseudobulbar paralysis1BEAN1 CL E G H146227217012ORPHA15624160612051
HP:0001260HP:0007024Pseudobulbar paralysis1BEAN1 CL E G H146227117210Spinocerebellar ataxia 31117210C1861736OMIM15624160612051
HP:0001260HP:0008376Nasal, dysarthic speech1BEAN1 CL E G H146227117210Spinocerebellar ataxia 31117210C1861736OMIM15624160612051
HP:0001260HP:0002464Spastic dysarthria1BEAN1 CL E G H146227117210Spinocerebellar ataxia 31117210C1861736OMIM15624160612051
HP:0001260HP:0007024Pseudobulbar paralysis1BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM16561052601248
HP:0001260HP:0008376Nasal, dysarthic speech1BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM16561052601248
HP:0001260HP:0002464Spastic dysarthria1BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM16561052601248
HP:0001260HP:0008376Nasal, dysarthic speech1BRAF CL E G H673648ORPHA111821097164757
HP:0001260HP:0002464Spastic dysarthria1BRAF CL E G H673648ORPHA111821097164757
HP:0001260HP:0007024Pseudobulbar paralysis1BRAF CL E G H673648ORPHA111821097164757
HP:0001260HP:0007024Pseudobulbar paralysis1C12orf65 CL E G H91574613559Combined oxidative phosphorylation deficiency 7613559C3150801OMIM126784613541
HP:0001260HP:0008376Nasal, dysarthic speech1C12orf65 CL E G H91574613559Combined oxidative phosphorylation deficiency 7613559C3150801OMIM126784613541
HP:0001260HP:0002464Spastic dysarthria1C12orf65 CL E G H91574613559Combined oxidative phosphorylation deficiency 7613559C3150801OMIM126784613541
HP:0001260HP:0008376Nasal, dysarthic speech1C19orf12 CL E G H83636289560ORPHA130725443614297
HP:0001260HP:0002464Spastic dysarthria1C19orf12 CL E G H83636289560ORPHA130725443614297
HP:0001260HP:0007024Pseudobulbar paralysis1C19orf12 CL E G H83636289560ORPHA130725443614297
HP:0001260HP:0007024Pseudobulbar paralysis1C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM130725443614297
HP:0001260HP:0008376Nasal, dysarthic speech1C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM130725443614297
HP:0001260HP:0002464Spastic dysarthria1C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM130725443614297
HP:0001260HP:0007024Pseudobulbar paralysis1C19orf12 CL E G H83636615043Spastic paraplegia 43, autosomal recessive615043C2680446OMIM130725443614297
HP:0001260HP:0008376Nasal, dysarthic speech1C19orf12 CL E G H83636615043Spastic paraplegia 43, autosomal recessive615043C2680446OMIM130725443614297
HP:0001260HP:0002464Spastic dysarthria1C19orf12 CL E G H83636615043Spastic paraplegia 43, autosomal recessive615043C2680446OMIM130725443614297
HP:0001260HP:0008376Nasal, dysarthic speech1C9orf72 CL E G H203228275872ORPHA117728337614260
HP:0001260HP:0002464Spastic dysarthria1C9orf72 CL E G H203228275872ORPHA117728337614260
HP:0001260HP:0007024Pseudobulbar paralysis1C9orf72 CL E G H203228275872ORPHA117728337614260
HP:0001260HP:0007024Pseudobulbar paralysis1C9orf72 CL E G H203228105550Amyotrophic lateral sclerosis and/or frontotemporal dementia 1105550C1862937OMIM117728337614260
HP:0001260HP:0008376Nasal, dysarthic speech1C9orf72 CL E G H203228105550Amyotrophic lateral sclerosis and/or frontotemporal dementia 1105550C1862937OMIM117728337614260
HP:0001260HP:0002464Spastic dysarthria1C9orf72 CL E G H203228105550Amyotrophic lateral sclerosis and/or frontotemporal dementia 1105550C1862937OMIM117728337614260
HP:0001260HP:0007024Pseudobulbar paralysis1CA8 CL E G H767613227Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3613227C2750509OMIM1941382114815
HP:0001260HP:0008376Nasal, dysarthic speech1CA8 CL E G H767613227Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3613227C2750509OMIM1941382114815
HP:0001260HP:0002464Spastic dysarthria1CA8 CL E G H767613227Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3613227C2750509OMIM1941382114815
HP:0001260HP:0002464Spastic dysarthria1CACNA1A CL E G H77397ORPHA132481388601011
HP:0001260HP:0007024Pseudobulbar paralysis1CACNA1A CL E G H77397ORPHA132481388601011
HP:0001260HP:0008376Nasal, dysarthic speech1CACNA1A CL E G H77397ORPHA132481388601011
HP:0001260HP:0007024Pseudobulbar paralysis1CACNA1A CL E G H773108500Episodic ataxia type 2108500C1720416OMIM132481388601011
HP:0001260HP:0008376Nasal, dysarthic speech1CACNA1A CL E G H773108500Episodic ataxia type 2108500C1720416OMIM132481388601011
HP:0001260HP:0002464Spastic dysarthria1CACNA1A CL E G H773108500Episodic ataxia type 2108500C1720416OMIM132481388601011
HP:0001260HP:0007024Pseudobulbar paralysis1CACNA1A CL E G H773183086Spinocerebellar ataxia 6183086C0752124OMIM132481388601011
HP:0001260HP:0008376Nasal, dysarthic speech1CACNA1A CL E G H773183086Spinocerebellar ataxia 6183086C0752124OMIM132481388601011
HP:0001260HP:0002464Spastic dysarthria1CACNA1A CL E G H773183086Spinocerebellar ataxia 6183086C0752124OMIM132481388601011
HP:0001260HP:0008376Nasal, dysarthic speech1CACNA1G CL E G H8913458803ORPHA18221394604065
HP:0001260HP:0002464Spastic dysarthria1CACNA1G CL E G H8913458803ORPHA18221394604065
HP:0001260HP:0007024Pseudobulbar paralysis1CACNA1G CL E G H8913458803ORPHA18221394604065
HP:0001260HP:0008376Nasal, dysarthic speech1CACNB4 CL E G H785211067ORPHA13231404601949
HP:0001260HP:0002464Spastic dysarthria1CACNB4 CL E G H785211067ORPHA13231404601949
HP:0001260HP:0007024Pseudobulbar paralysis1CACNB4 CL E G H785211067ORPHA13231404601949
HP:0001260HP:0007024Pseudobulbar paralysis1CACNB4 CL E G H785613855Episodic ataxia, type 5613855C1866039OMIM13231404601949
HP:0001260HP:0008376Nasal, dysarthic speech1CACNB4 CL E G H785613855Episodic ataxia, type 5613855C1866039OMIM13231404601949
HP:0001260HP:0002464Spastic dysarthria1CACNB4 CL E G H785613855Episodic ataxia, type 5613855C1866039OMIM13231404601949
HP:0001260HP:0008376Nasal, dysarthic speech1CAMTA1 CL E G H23261314647ORPHA155018806611501
HP:0001260HP:0002464Spastic dysarthria1CAMTA1 CL E G H23261314647ORPHA155018806611501
HP:0001260HP:0007024Pseudobulbar paralysis1CAMTA1 CL E G H23261314647ORPHA155018806611501
HP:0001260HP:0007024Pseudobulbar paralysis1CAMTA1 CL E G H23261614756Cerebellar ataxia, nonprogressive, with mental retardation614756C3553661OMIM155018806611501
HP:0001260HP:0008376Nasal, dysarthic speech1CAMTA1 CL E G H23261614756Cerebellar ataxia, nonprogressive, with mental retardation614756C3553661OMIM155018806611501
HP:0001260HP:0002464Spastic dysarthria1CAMTA1 CL E G H23261614756Cerebellar ataxia, nonprogressive, with mental retardation614756C3553661OMIM155018806611501
HP:0001260HP:0008376Nasal, dysarthic speech1CAPN1 CL E G H823488594ORPHA12481476114220
HP:0001260HP:0002464Spastic dysarthria1CAPN1 CL E G H823488594ORPHA12481476114220
HP:0001260HP:0007024Pseudobulbar paralysis1CAPN1 CL E G H823488594ORPHA12481476114220
HP:0001260HP:0008376Nasal, dysarthic speech1CCDC88C CL E G H440193423275ORPHA158619967611204
HP:0001260HP:0002464Spastic dysarthria1CCDC88C CL E G H440193423275ORPHA158619967611204
HP:0001260HP:0007024Pseudobulbar paralysis1CCDC88C CL E G H440193423275ORPHA158619967611204
HP:0001260HP:0002464Spastic dysarthria1CCDC88C CL E G H440193616053Spinocerebellar ataxia 40616053CN252333OMIM158619967611204
HP:0001260HP:0007024Pseudobulbar paralysis1CCDC88C CL E G H440193616053Spinocerebellar ataxia 40616053CN252333OMIM158619967611204
HP:0001260HP:0008376Nasal, dysarthic speech1CCDC88C CL E G H440193616053Spinocerebellar ataxia 40616053CN252333OMIM158619967611204
HP:0001260HP:0008376Nasal, dysarthic speech1CHCHD10 CL E G H400916275872ORPHA129715559615903
HP:0001260HP:0002464Spastic dysarthria1CHCHD10 CL E G H400916275872ORPHA129715559615903
HP:0001260HP:0007024Pseudobulbar paralysis1CHCHD10 CL E G H400916275872ORPHA129715559615903
HP:0001260HP:0002464Spastic dysarthria1CHCHD10 CL E G H400916615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2615911C4014648OMIM129715559615903
HP:0001260HP:0007024Pseudobulbar paralysis1CHCHD10 CL E G H400916615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2615911C4014648OMIM129715559615903
HP:0001260HP:0008376Nasal, dysarthic speech1CHCHD10 CL E G H400916615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2615911C4014648OMIM129715559615903
HP:0001260HP:0008376Nasal, dysarthic speech1CHD2 CL E G H11061942ORPHA118381917602119
HP:0001260HP:0002464Spastic dysarthria1CHD2 CL E G H11061942ORPHA118381917602119
HP:0001260HP:0007024Pseudobulbar paralysis1CHD2 CL E G H11061942ORPHA118381917602119
HP:0001260HP:0002464Spastic dysarthria1CHD3 CL E G H1107618205SNIJDERS BLOK-CAMPEAU SYNDROME618205OMIM13781918602120
HP:0001260HP:0007024Pseudobulbar paralysis1CHD3 CL E G H1107618205SNIJDERS BLOK-CAMPEAU SYNDROME618205OMIM13781918602120
HP:0001260HP:0008376Nasal, dysarthic speech1CHD3 CL E G H1107618205SNIJDERS BLOK-CAMPEAU SYNDROME618205OMIM13781918602120
HP:0001260HP:0007024Pseudobulbar paralysis1CHMP2B CL E G H25978614696Amyotrophic lateral sclerosis 17614696C1836076OMIM116024537609512
HP:0001260HP:0008376Nasal, dysarthic speech1CHMP2B CL E G H25978614696Amyotrophic lateral sclerosis 17614696C1836076OMIM116024537609512
HP:0001260HP:0002464Spastic dysarthria1CHMP2B CL E G H25978614696Amyotrophic lateral sclerosis 17614696C1836076OMIM116024537609512
HP:0001260HP:0007024Pseudobulbar paralysis1CHRNA1 CL E G H1134608930Congenital myasthenic syndrome 1B, fast-channel608930C1837122OMIM14681955100690
HP:0001260HP:0008376Nasal, dysarthic speech1CHRNA1 CL E G H1134608930Congenital myasthenic syndrome 1B, fast-channel608930C1837122OMIM14681955100690
HP:0001260HP:0002464Spastic dysarthria1CHRNA1 CL E G H1134608930Congenital myasthenic syndrome 1B, fast-channel608930C1837122OMIM14681955100690
HP:0001260HP:0007024Pseudobulbar paralysis1CHRNA1 CL E G H1134601462Myasthenic syndrome, slow-channel congenital601462C0751885OMIM14681955100690
HP:0001260HP:0008376Nasal, dysarthic speech1CHRNA1 CL E G H1134601462Myasthenic syndrome, slow-channel congenital601462C0751885OMIM14681955100690
HP:0001260HP:0002464Spastic dysarthria1CHRNA1 CL E G H1134601462Myasthenic syndrome, slow-channel congenital601462C0751885OMIM14681955100690
HP:0001260HP:0007024Pseudobulbar paralysis1CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM110111966100725
HP:0001260HP:0008376Nasal, dysarthic speech1CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM110111966100725
HP:0001260HP:0002464Spastic dysarthria1CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM110111966100725
HP:0001260HP:0008376Nasal, dysarthic speech1CISD2 CL E G H4938563463ORPHA17124212611507
HP:0001260HP:0002464Spastic dysarthria1CISD2 CL E G H4938563463ORPHA17124212611507
HP:0001260HP:0007024Pseudobulbar paralysis1CISD2 CL E G H4938563463ORPHA17124212611507
HP:0001260HP:0007024Pseudobulbar paralysis1CLN3 CL E G H1201204200Juvenile neuronal ceroid lipofuscinosis204200C0751383OMIM110152074607042
HP:0001260HP:0008376Nasal, dysarthic speech1CLN3 CL E G H1201204200Juvenile neuronal ceroid lipofuscinosis204200C0751383OMIM110152074607042
HP:0001260HP:0002464Spastic dysarthria1CLN3 CL E G H1201204200Juvenile neuronal ceroid lipofuscinosis204200C0751383OMIM110152074607042
HP:0001260HP:0008376Nasal, dysarthic speech1COASY CL E G H80347397725ORPHA128129932609855
HP:0001260HP:0002464Spastic dysarthria1COASY CL E G H80347397725ORPHA128129932609855
HP:0001260HP:0007024Pseudobulbar paralysis1COASY CL E G H80347397725ORPHA128129932609855
HP:0001260HP:0007024Pseudobulbar paralysis1COASY CL E G H80347615643Neurodegeneration with brain iron accumulation 6615643C3810230OMIM128129932609855
HP:0001260HP:0008376Nasal, dysarthic speech1COASY CL E G H80347615643Neurodegeneration with brain iron accumulation 6615643C3810230OMIM128129932609855
HP:0001260HP:0002464Spastic dysarthria1COASY CL E G H80347615643Neurodegeneration with brain iron accumulation 6615643C3810230OMIM128129932609855
HP:0001260HP:0007024Pseudobulbar paralysis1COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM15422226603033
HP:0001260HP:0008376Nasal, dysarthic speech1COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM15422226603033
HP:0001260HP:0002464Spastic dysarthria1COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM15422226603033
HP:0001260HP:0008376Nasal, dysarthic speech1COQ2 CL E G H27235227510ORPHA134625223609825
HP:0001260HP:0002464Spastic dysarthria1COQ2 CL E G H27235227510ORPHA134625223609825
HP:0001260HP:0007024Pseudobulbar paralysis1COQ2 CL E G H27235227510ORPHA134625223609825
HP:0001260HP:0007024Pseudobulbar paralysis1COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM134625223609825
HP:0001260HP:0008376Nasal, dysarthic speech1COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM134625223609825
HP:0001260HP:0002464Spastic dysarthria1COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM134625223609825
HP:0001260HP:0007024Pseudobulbar paralysis1COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0001260HP:0008376Nasal, dysarthic speech1COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0001260HP:0002464Spastic dysarthria1COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0001260HP:0008376Nasal, dysarthic speech1COX15 CL E G H1355255241ORPHA13572263603646
HP:0001260HP:0002464Spastic dysarthria1COX15 CL E G H1355255241ORPHA13572263603646
HP:0001260HP:0007024Pseudobulbar paralysis1COX15 CL E G H1355255241ORPHA13572263603646
HP:0001260HP:0007024Pseudobulbar paralysis1COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0001260HP:0008376Nasal, dysarthic speech1COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0001260HP:0002464Spastic dysarthria1COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0001260HP:0002464Spastic dysarthria1CSTB CL E G H1476308ORPHA12612482601145
HP:0001260HP:0007024Pseudobulbar paralysis1CSTB CL E G H1476308ORPHA12612482601145
HP:0001260HP:0008376Nasal, dysarthic speech1CSTB CL E G H1476308ORPHA12612482601145
HP:0001260HP:0007024Pseudobulbar paralysis1CSTB CL E G H1476254800Unverricht-Lundborg syndrome254800C0751785OMIM12612482601145
HP:0001260HP:0008376Nasal, dysarthic speech1CSTB CL E G H1476254800Unverricht-Lundborg syndrome254800C0751785OMIM12612482601145
HP:0001260HP:0002464Spastic dysarthria1CSTB CL E G H1476254800Unverricht-Lundborg syndrome254800C0751785OMIM12612482601145
HP:0001260HP:0007024Pseudobulbar paralysis1CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0001260HP:0008376Nasal, dysarthic speech1CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0001260HP:0002464Spastic dysarthria1CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0001260HP:0007024Pseudobulbar paralysis1CTSF CL E G H8722615362Ceroid lipofuscinosis, neuronal, 13615362C3715049OMIM12182531603539
HP:0001260HP:0008376Nasal, dysarthic speech1CTSF CL E G H8722615362Ceroid lipofuscinosis, neuronal, 13615362C3715049OMIM12182531603539
HP:0001260HP:0002464Spastic dysarthria1CTSF CL E G H8722615362Ceroid lipofuscinosis, neuronal, 13615362C3715049OMIM12182531603539
HP:0001260HP:0008376Nasal, dysarthic speech1CWF19L1 CL E G H55280453521ORPHA110025613616120
HP:0001260HP:0002464Spastic dysarthria1CWF19L1 CL E G H55280453521ORPHA110025613616120
HP:0001260HP:0007024Pseudobulbar paralysis1CWF19L1 CL E G H55280453521ORPHA110025613616120
HP:0001260HP:0002464Spastic dysarthria1CWF19L1 CL E G H55280616127Spinocerebellar ataxia, autosomal recessive 17616127C4015301OMIM110025613616120
HP:0001260HP:0007024Pseudobulbar paralysis1CWF19L1 CL E G H55280616127Spinocerebellar ataxia, autosomal recessive 17616127C4015301OMIM110025613616120
HP:0001260HP:0008376Nasal, dysarthic speech1CWF19L1 CL E G H55280616127Spinocerebellar ataxia, autosomal recessive 17616127C4015301OMIM110025613616120
HP:0001260HP:0007024Pseudobulbar paralysis1CYP7B1 CL E G H9420270800Spastic paraplegia 5A270800C1849115OMIM14152652603711
HP:0001260HP:0008376Nasal, dysarthic speech1CYP7B1 CL E G H9420270800Spastic paraplegia 5A270800C1849115OMIM14152652603711
HP:0001260HP:0002464Spastic dysarthria1CYP7B1 CL E G H9420270800Spastic paraplegia 5A270800C1849115OMIM14152652603711
HP:0001260HP:0002464Spastic dysarthria1DAB1 CL E G H1600615945Spinocerebellar ataxia 37615945C3889636OMIM11072661603448
HP:0001260HP:0007024Pseudobulbar paralysis1DAB1 CL E G H1600615945Spinocerebellar ataxia 37615945C3889636OMIM11072661603448
HP:0001260HP:0008376Nasal, dysarthic speech1DAB1 CL E G H1600615945Spinocerebellar ataxia 37615945C3889636OMIM11072661603448
HP:0001260HP:0008376Nasal, dysarthic speech1DCAF17 CL E G H800673464ORPHA136625784612515
HP:0001260HP:0002464Spastic dysarthria1DCAF17 CL E G H800673464ORPHA136625784612515
HP:0001260HP:0007024Pseudobulbar paralysis1DCAF17 CL E G H800673464ORPHA136625784612515
HP:0001260HP:0007024Pseudobulbar paralysis1DCAF17 CL E G H80067241080Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities241080C0342286OMIM136625784612515
HP:0001260HP:0008376Nasal, dysarthic speech1DCAF17 CL E G H80067241080Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities241080C0342286OMIM136625784612515
HP:0001260HP:0002464Spastic dysarthria1DCAF17 CL E G H80067241080Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities241080C0342286OMIM136625784612515
HP:0001260HP:0007024Pseudobulbar paralysis1DCTN1 CL E G H1639168605Perry syndrome168605C1868594OMIM110842711601143
HP:0001260HP:0008376Nasal, dysarthic speech1DCTN1 CL E G H1639168605Perry syndrome168605C1868594OMIM110842711601143
HP:0001260HP:0002464Spastic dysarthria1DCTN1 CL E G H1639168605Perry syndrome168605C1868594OMIM110842711601143
HP:0001260HP:0007024Pseudobulbar paralysis1DCX CL E G H1641300067Lissencephaly, X-linked300067C1848199OMIM14232714300121
HP:0001260HP:0008376Nasal, dysarthic speech1DCX CL E G H1641300067Lissencephaly, X-linked300067C1848199OMIM14232714300121
HP:0001260HP:0002464Spastic dysarthria1DCX CL E G H1641300067Lissencephaly, X-linked300067C1848199OMIM14232714300121
HP:0001260HP:0008376Nasal, dysarthic speech1DDHD2 CL E G H23259320380ORPHA134129106615003
HP:0001260HP:0002464Spastic dysarthria1DDHD2 CL E G H23259320380ORPHA134129106615003
HP:0001260HP:0007024Pseudobulbar paralysis1DDHD2 CL E G H23259320380ORPHA134129106615003
HP:0001260HP:0007024Pseudobulbar paralysis1DDHD2 CL E G H23259615033Spastic paraplegia 54, autosomal recessive615033C3539495OMIM134129106615003
HP:0001260HP:0008376Nasal, dysarthic speech1DDHD2 CL E G H23259615033Spastic paraplegia 54, autosomal recessive615033C3539495OMIM134129106615003
HP:0001260HP:0002464Spastic dysarthria1DDHD2 CL E G H23259615033Spastic paraplegia 54, autosomal recessive615033C3539495OMIM134129106615003
HP:0001260HP:0002464Spastic dysarthria1DMXL2 CL E G H23312616113Polyendocrine-polyneuropathy syndrome616113C4015261OMIM112162938612186
HP:0001260HP:0007024Pseudobulbar paralysis1DMXL2 CL E G H23312616113Polyendocrine-polyneuropathy syndrome616113C4015261OMIM112162938612186
HP:0001260HP:0008376Nasal, dysarthic speech1DMXL2 CL E G H23312616113Polyendocrine-polyneuropathy syndrome616113C4015261OMIM112162938612186
HP:0001260HP:0008376Nasal, dysarthic speech1DNAJB6 CL E G H1004934516ORPHA148714888611332
HP:0001260HP:0002464Spastic dysarthria1DNAJB6 CL E G H1004934516ORPHA148714888611332
HP:0001260HP:0007024Pseudobulbar paralysis1DNAJB6 CL E G H1004934516ORPHA148714888611332
HP:0001260HP:0007024Pseudobulbar paralysis1DNAJC6 CL E G H9829615528Parkinson disease 19a, juvenile-onset615528C3809811OMIM131015469608375
HP:0001260HP:0008376Nasal, dysarthic speech1DNAJC6 CL E G H9829615528Parkinson disease 19a, juvenile-onset615528C3809811OMIM131015469608375
HP:0001260HP:0002464Spastic dysarthria1DNAJC6 CL E G H9829615528Parkinson disease 19a, juvenile-onset615528C3809811OMIM131015469608375
HP:0001260HP:0002464Spastic dysarthria1EBF3 CL E G H253738617330Hypotonia, ataxia, and delayed development syndrome617330C4310618OMIM128819087607407
HP:0001260HP:0007024Pseudobulbar paralysis1EBF3 CL E G H253738617330Hypotonia, ataxia, and delayed development syndrome617330C4310618OMIM128819087607407
HP:0001260HP:0008376Nasal, dysarthic speech1EBF3 CL E G H253738617330Hypotonia, ataxia, and delayed development syndrome617330C4310618OMIM128819087607407
HP:0001260HP:0008376Nasal, dysarthic speech1ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0001260HP:0002464Spastic dysarthria1ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0001260HP:0007024Pseudobulbar paralysis1ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0001260HP:0008376Nasal, dysarthic speech1EEF2 CL E G H1938101112ORPHA13193214130610
HP:0001260HP:0002464Spastic dysarthria1EEF2 CL E G H1938101112ORPHA13193214130610
HP:0001260HP:0007024Pseudobulbar paralysis1EEF2 CL E G H1938101112ORPHA13193214130610
HP:0001260HP:0007024Pseudobulbar paralysis1EEF2 CL E G H1938609306Spinocerebellar ataxia 26609306C1836395OMIM13193214130610
HP:0001260HP:0008376Nasal, dysarthic speech1EEF2 CL E G H1938609306Spinocerebellar ataxia 26609306C1836395OMIM13193214130610
HP:0001260HP:0002464Spastic dysarthria1EEF2 CL E G H1938609306Spinocerebellar ataxia 26609306C1836395OMIM13193214130610
HP:0001260HP:0007024Pseudobulbar paralysis1EIF2B1 CL E G H1967603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11923257606686
HP:0001260HP:0008376Nasal, dysarthic speech1EIF2B1 CL E G H1967603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11923257606686
HP:0001260HP:0002464Spastic dysarthria1EIF2B1 CL E G H1967603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11923257606686
HP:0001260HP:0007024Pseudobulbar paralysis1EIF2B2 CL E G H8892603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11903258606454
HP:0001260HP:0008376Nasal, dysarthic speech1EIF2B2 CL E G H8892603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11903258606454
HP:0001260HP:0002464Spastic dysarthria1EIF2B2 CL E G H8892603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11903258606454
HP:0001260HP:0007024Pseudobulbar paralysis1EIF2B3 CL E G H8891603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11813259606273
HP:0001260HP:0008376Nasal, dysarthic speech1EIF2B3 CL E G H8891603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11813259606273
HP:0001260HP:0002464Spastic dysarthria1EIF2B3 CL E G H8891603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11813259606273
HP:0001260HP:0007024Pseudobulbar paralysis1EIF2B4 CL E G H8890603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM12333260606687
HP:0001260HP:0008376Nasal, dysarthic speech1EIF2B4 CL E G H8890603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM12333260606687
HP:0001260HP:0002464Spastic dysarthria1EIF2B4 CL E G H8890603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM12333260606687
HP:0001260HP:0007024Pseudobulbar paralysis1EIF2B5 CL E G H8893603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM15793261603945
HP:0001260HP:0008376Nasal, dysarthic speech1EIF2B5 CL E G H8893603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM15793261603945
HP:0001260HP:0002464Spastic dysarthria1EIF2B5 CL E G H8893603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM15793261603945
HP:0001260HP:0008376Nasal, dysarthic speech1ELOVL4 CL E G H67851955ORPHA129714415605512
HP:0001260HP:0002464Spastic dysarthria1ELOVL4 CL E G H67851955ORPHA129714415605512
HP:0001260HP:0007024Pseudobulbar paralysis1ELOVL4 CL E G H67851955ORPHA129714415605512
HP:0001260HP:0007024Pseudobulbar paralysis1ELOVL4 CL E G H6785133190Erythrokeratodermia with ataxia133190C1851481OMIM129714415605512
HP:0001260HP:0008376Nasal, dysarthic speech1ELOVL4 CL E G H6785133190Erythrokeratodermia with ataxia133190C1851481OMIM129714415605512
HP:0001260HP:0002464Spastic dysarthria1ELOVL4 CL E G H6785133190Erythrokeratodermia with ataxia133190C1851481OMIM129714415605512
HP:0001260HP:0008376Nasal, dysarthic speech1ELOVL5 CL E G H60481423296ORPHA110521308611805
HP:0001260HP:0002464Spastic dysarthria1ELOVL5 CL E G H60481423296ORPHA110521308611805
HP:0001260HP:0007024Pseudobulbar paralysis1ELOVL5 CL E G H60481423296ORPHA110521308611805
HP:0001260HP:0002464Spastic dysarthria1ELOVL5 CL E G H60481615957Spinocerebellar ataxia 38615957C4014812OMIM110521308611805
HP:0001260HP:0007024Pseudobulbar paralysis1ELOVL5 CL E G H60481615957Spinocerebellar ataxia 38615957C4014812OMIM110521308611805
HP:0001260HP:0008376Nasal, dysarthic speech1ELOVL5 CL E G H60481615957Spinocerebellar ataxia 38615957C4014812OMIM110521308611805
HP:0001260HP:0008376Nasal, dysarthic speech1ENTPD1 CL E G H953401810ORPHA11993363601752
HP:0001260HP:0002464Spastic dysarthria1ENTPD1 CL E G H953401810ORPHA11993363601752
HP:0001260HP:0007024Pseudobulbar paralysis1ENTPD1 CL E G H953401810ORPHA11993363601752
HP:0001260HP:0007024Pseudobulbar paralysis1ENTPD1 CL E G H953615683Spastic paraplegia 64, autosomal recessive615683C3810289OMIM11993363601752
HP:0001260HP:0008376Nasal, dysarthic speech1ENTPD1 CL E G H953615683Spastic paraplegia 64, autosomal recessive615683C3810289OMIM11993363601752
HP:0001260HP:0002464Spastic dysarthria1ENTPD1 CL E G H953615683Spastic paraplegia 64, autosomal recessive615683C3810289OMIM11993363601752
HP:0001260HP:0008376Nasal, dysarthic speech1ERCC2 CL E G H2068220295ORPHA115723434126340
HP:0001260HP:0002464Spastic dysarthria1ERCC2 CL E G H2068220295ORPHA115723434126340
HP:0001260HP:0007024Pseudobulbar paralysis1ERCC2 CL E G H2068220295ORPHA115723434126340
HP:0001260HP:0008376Nasal, dysarthic speech1ERCC3 CL E G H2071220295ORPHA15233435133510
HP:0001260HP:0002464Spastic dysarthria1ERCC3 CL E G H2071220295ORPHA15233435133510
HP:0001260HP:0007024Pseudobulbar paralysis1ERCC3 CL E G H2071220295ORPHA15233435133510
HP:0001260HP:0008376Nasal, dysarthic speech1ERCC4 CL E G H2072220295ORPHA17263436133520
HP:0001260HP:0002464Spastic dysarthria1ERCC4 CL E G H2072220295ORPHA17263436133520
HP:0001260HP:0007024Pseudobulbar paralysis1ERCC4 CL E G H2072220295ORPHA17263436133520
HP:0001260HP:0008376Nasal, dysarthic speech1ERCC5 CL E G H2073220295ORPHA14913437133530
HP:0001260HP:0002464Spastic dysarthria1ERCC5 CL E G H2073220295ORPHA14913437133530
HP:0001260HP:0007024Pseudobulbar paralysis1ERCC5 CL E G H2073220295ORPHA14913437133530
HP:0001260HP:0007024Pseudobulbar paralysis1ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM14843439609412
HP:0001260HP:0008376Nasal, dysarthic speech1ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM14843439609412
HP:0001260HP:0002464Spastic dysarthria1ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM14843439609412
HP:0001260HP:0008376Nasal, dysarthic speech1ERLIN1 CL E G H10613401785ORPHA113616947611604
HP:0001260HP:0002464Spastic dysarthria1ERLIN1 CL E G H10613401785ORPHA113616947611604
HP:0001260HP:0007024Pseudobulbar paralysis1ERLIN1 CL E G H10613401785ORPHA113616947611604
HP:0001260HP:0007024Pseudobulbar paralysis1EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0001260HP:0008376Nasal, dysarthic speech1EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0001260HP:0002464Spastic dysarthria1EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0001260HP:0008376Nasal, dysarthic speech1FA2H CL E G H79152171629ORPHA138121197611026
HP:0001260HP:0002464Spastic dysarthria1FA2H CL E G H79152171629ORPHA138121197611026
HP:0001260HP:0007024Pseudobulbar paralysis1FA2H CL E G H79152171629ORPHA138121197611026
HP:0001260HP:0007024Pseudobulbar paralysis1FA2H CL E G H79152612319Spastic paraplegia 35612319C3668943OMIM138121197611026
HP:0001260HP:0008376Nasal, dysarthic speech1FA2H CL E G H79152612319Spastic paraplegia 35612319C3668943OMIM138121197611026
HP:0001260HP:0002464Spastic dysarthria1FA2H CL E G H79152612319Spastic paraplegia 35612319C3668943OMIM138121197611026
HP:0001260HP:0007024Pseudobulbar paralysis1FAM126A CL E G H84668610532Hypomyelination and Congenital Cataract610532C1864663OMIM124587610531
HP:0001260HP:0008376Nasal, dysarthic speech1FAM126A CL E G H84668610532Hypomyelination and Congenital Cataract610532C1864663OMIM124587610531
HP:0001260HP:0002464Spastic dysarthria1FAM126A CL E G H84668610532Hypomyelination and Congenital Cataract610532C1864663OMIM124587610531
HP:0001260HP:0002464Spastic dysarthria1FAT2 CL E G H2196617769SPINOCEREBELLAR ATAXIA 45617769C4540400OMIM17553596604269
HP:0001260HP:0007024Pseudobulbar paralysis1FAT2 CL E G H2196617769SPINOCEREBELLAR ATAXIA 45617769C4540400OMIM17553596604269
HP:0001260HP:0008376Nasal, dysarthic speech1FAT2 CL E G H2196617769SPINOCEREBELLAR ATAXIA 45617769C4540400OMIM17553596604269
HP:0001260HP:0007024Pseudobulbar paralysis1FBXO7 CL E G H25793260300Parkinson disease 15260300C1850100OMIM124313586605648
HP:0001260HP:0008376Nasal, dysarthic speech1FBXO7 CL E G H25793260300Parkinson disease 15260300C1850100OMIM124313586605648
HP:0001260HP:0002464Spastic dysarthria1FBXO7 CL E G H25793260300Parkinson disease 15260300C1850100OMIM124313586605648
HP:0001260HP:0008376Nasal, dysarthic speech1FGF14 CL E G H225998764ORPHA12513671601515
HP:0001260HP:0002464Spastic dysarthria1FGF14 CL E G H225998764ORPHA12513671601515
HP:0001260HP:0007024Pseudobulbar paralysis1FGF14 CL E G H225998764ORPHA12513671601515
HP:0001260HP:0008376Nasal, dysarthic speech1FLRT1 CL E G H23769320406ORPHA11543760604806
HP:0001260HP:0002464Spastic dysarthria1FLRT1 CL E G H23769320406ORPHA11543760604806
HP:0001260HP:0007024Pseudobulbar paralysis1FLRT1 CL E G H23769320406ORPHA11543760604806
HP:0001260HP:0008376Nasal, dysarthic speech1FMR1 CL E G H233293256ORPHA13713775309550
HP:0001260HP:0002464Spastic dysarthria1FMR1 CL E G H233293256ORPHA13713775309550
HP:0001260HP:0007024Pseudobulbar paralysis1FMR1 CL E G H233293256ORPHA13713775309550
HP:0001260HP:0007024Pseudobulbar paralysis1FMR1 CL E G H2332300623Fragile X tremor/ataxia syndrome300623C1839780OMIM13713775309550
HP:0001260HP:0008376Nasal, dysarthic speech1FMR1 CL E G H2332300623Fragile X tremor/ataxia syndrome300623C1839780OMIM13713775309550
HP:0001260HP:0002464Spastic dysarthria1FMR1 CL E G H2332300623Fragile X tremor/ataxia syndrome300623C1839780OMIM13713775309550
HP:0001260HP:0008376Nasal, dysarthic speech1FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0001260HP:0002464Spastic dysarthria1FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0001260HP:0007024Pseudobulbar paralysis1FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0001260HP:0007024Pseudobulbar paralysis1FTL CL E G H2512606159Neuroferritinopathy606159C1853578OMIM11853999134790
HP:0001260HP:0008376Nasal, dysarthic speech1FTL CL E G H2512606159Neuroferritinopathy606159C1853578OMIM11853999134790
HP:0001260HP:0002464Spastic dysarthria1FTL CL E G H2512606159Neuroferritinopathy606159C1853578OMIM11853999134790
HP:0001260HP:0008376Nasal, dysarthic speech1FUS CL E G H2521275872ORPHA14744010137070
HP:0001260HP:0002464Spastic dysarthria1FUS CL E G H2521275872ORPHA14744010137070
HP:0001260HP:0007024Pseudobulbar paralysis1FUS CL E G H2521275872ORPHA14744010137070
HP:0001260HP:0008376Nasal, dysarthic speech1FUS CL E G H2521300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA14744010137070
HP:0001260HP:0002464Spastic dysarthria1FUS CL E G H2521300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA14744010137070
HP:0001260HP:0007024Pseudobulbar paralysis1FUS CL E G H2521300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA14744010137070
HP:0001260HP:0002464Spastic dysarthria1FXN CL E G H239595ORPHA11583951606829
HP:0001260HP:0007024Pseudobulbar paralysis1FXN CL E G H239595ORPHA11583951606829
HP:0001260HP:0008376Nasal, dysarthic speech1FXN CL E G H239595ORPHA11583951606829
HP:0001260HP:0007024Pseudobulbar paralysis1FXN CL E G H2395229300Friedreich ataxia 1229300C1856689OMIM11583951606829
HP:0001260HP:0008376Nasal, dysarthic speech1FXN CL E G H2395229300Friedreich ataxia 1229300C1856689OMIM11583951606829
HP:0001260HP:0002464Spastic dysarthria1FXN CL E G H2395229300Friedreich ataxia 1229300C1856689OMIM11583951606829
HP:0001260HP:0007024Pseudobulbar paralysis1GAN CL E G H8139256850Giant axonal neuropathy256850C1850386OMIM17774137605379
HP:0001260HP:0008376Nasal, dysarthic speech1GAN CL E G H8139256850Giant axonal neuropathy256850C1850386OMIM17774137605379
HP:0001260HP:0002464Spastic dysarthria1GAN CL E G H8139256850Giant axonal neuropathy256850C1850386OMIM17774137605379
HP:0001260HP:0007024Pseudobulbar paralysis1GBA2 CL E G H57704614409Spastic paraplegia 46, autosomal recessive614409C2828721OMIM135518986609471
HP:0001260HP:0008376Nasal, dysarthic speech1GBA2 CL E G H57704614409Spastic paraplegia 46, autosomal recessive614409C2828721OMIM135518986609471
HP:0001260HP:0002464Spastic dysarthria1GBA2 CL E G H57704614409Spastic paraplegia 46, autosomal recessive614409C2828721OMIM135518986609471
HP:0001260HP:0007024Pseudobulbar paralysis1GFPT1 CL E G H2673608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM15244241138292
HP:0001260HP:0008376Nasal, dysarthic speech1GFPT1 CL E G H2673608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM15244241138292
HP:0001260HP:0002464Spastic dysarthria1GFPT1 CL E G H2673608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM15244241138292
HP:0001260HP:0008376Nasal, dysarthic speech1GJA1 CL E G H26972710Hm syndromeORPHA12724274121014
HP:0001260HP:0002464Spastic dysarthria1GJA1 CL E G H26972710Hm syndromeORPHA12724274121014
HP:0001260HP:0007024Pseudobulbar paralysis1GJA1 CL E G H26972710Hm syndromeORPHA12724274121014
HP:0001260HP:0007024Pseudobulbar paralysis1GJA1 CL E G H2697164200Oculodentodigital dysplasia164200C0812437OMIM12724274121014
HP:0001260HP:0008376Nasal, dysarthic speech1GJA1 CL E G H2697164200Oculodentodigital dysplasia164200C0812437OMIM12724274121014
HP:0001260HP:0002464Spastic dysarthria1GJA1 CL E G H2697164200Oculodentodigital dysplasia164200C0812437OMIM12724274121014
HP:0001260HP:0007024Pseudobulbar paralysis1GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM18604283304040
HP:0001260HP:0008376Nasal, dysarthic speech1GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM18604283304040
HP:0001260HP:0002464Spastic dysarthria1GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM18604283304040
HP:0001260HP:0008376Nasal, dysarthic speech1GJC2 CL E G H57165320401ORPHA132317494608803
HP:0001260HP:0002464Spastic dysarthria1GJC2 CL E G H57165320401ORPHA132317494608803
HP:0001260HP:0007024Pseudobulbar paralysis1GJC2 CL E G H57165320401ORPHA132317494608803
HP:0001260HP:0007024Pseudobulbar paralysis1GJC2 CL E G H57165608804Leukodystrophy, hypomyelinating, 2608804C1837355OMIM132317494608803
HP:0001260HP:0008376Nasal, dysarthic speech1GJC2 CL E G H57165608804Leukodystrophy, hypomyelinating, 2608804C1837355OMIM132317494608803
HP:0001260HP:0002464Spastic dysarthria1GJC2 CL E G H57165608804Leukodystrophy, hypomyelinating, 2608804C1837355OMIM132317494608803
HP:0001260HP:0007024Pseudobulbar paralysis1GJC2 CL E G H57165613206Spastic paraplegia 44, autosomal recessive613206C2750784OMIM132317494608803
HP:0001260HP:0008376Nasal, dysarthic speech1GJC2 CL E G H57165613206Spastic paraplegia 44, autosomal recessive613206C2750784OMIM132317494608803
HP:0001260HP:0002464Spastic dysarthria1GJC2 CL E G H57165613206Spastic paraplegia 44, autosomal recessive613206C2750784OMIM132317494608803
HP:0001260HP:0002464Spastic dysarthria1GLRX5 CL E G H51218616859Spasticity, childhood-onset, with hyperglycinemia616859C4225178OMIM111120134609588
HP:0001260HP:0007024Pseudobulbar paralysis1GLRX5 CL E G H51218616859Spasticity, childhood-onset, with hyperglycinemia616859C4225178OMIM111120134609588
HP:0001260HP:0008376Nasal, dysarthic speech1GLRX5 CL E G H51218616859Spasticity, childhood-onset, with hyperglycinemia616859C4225178OMIM111120134609588
HP:0001260HP:0007024Pseudobulbar paralysis1GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM16164422607664
HP:0001260HP:0008376Nasal, dysarthic speech1GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM16164422607664
HP:0001260HP:0002464Spastic dysarthria1GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM16164422607664
HP:0001260HP:0007024Pseudobulbar paralysis1GOSR2 CL E G H9570614018Epilepsy, progressive myoclonic 6614018C3279627OMIM13204431604027
HP:0001260HP:0008376Nasal, dysarthic speech1GOSR2 CL E G H9570614018Epilepsy, progressive myoclonic 6614018C3279627OMIM13204431604027
HP:0001260HP:0002464Spastic dysarthria1GOSR2 CL E G H9570614018Epilepsy, progressive myoclonic 6614018C3279627OMIM13204431604027
HP:0001260HP:0002464Spastic dysarthria1GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM15274446603048
HP:0001260HP:0007024Pseudobulbar paralysis1GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM15274446603048
HP:0001260HP:0008376Nasal, dysarthic speech1GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM15274446603048
HP:0001260HP:0008376Nasal, dysarthic speech1GPT2 CL E G H84706477673ANO5-Related DisordersCN239193ORPHA110918062138210
HP:0001260HP:0002464Spastic dysarthria1GPT2 CL E G H84706477673ANO5-Related DisordersCN239193ORPHA110918062138210
HP:0001260HP:0007024Pseudobulbar paralysis1GPT2 CL E G H84706477673ANO5-Related DisordersCN239193ORPHA110918062138210
HP:0001260HP:0002464Spastic dysarthria1GPT2 CL E G H84706616281Mental retardation, autosomal recessive 49616281C4225388OMIM110918062138210
HP:0001260HP:0007024Pseudobulbar paralysis1GPT2 CL E G H84706616281Mental retardation, autosomal recessive 49616281C4225388OMIM110918062138210
HP:0001260HP:0008376Nasal, dysarthic speech1GPT2 CL E G H84706616281Mental retardation, autosomal recessive 49616281C4225388OMIM110918062138210
HP:0001260HP:0002464Spastic dysarthria1GRID2 CL E G H2895616204Spinocerebellar ataxia, autosomal recessive 18616204C4015505OMIM12414576602368
HP:0001260HP:0007024Pseudobulbar paralysis1GRID2 CL E G H2895616204Spinocerebellar ataxia, autosomal recessive 18616204C4015505OMIM12414576602368
HP:0001260HP:0008376Nasal, dysarthic speech1GRID2 CL E G H2895616204Spinocerebellar ataxia, autosomal recessive 18616204C4015505OMIM12414576602368
HP:0001260HP:0002464Spastic dysarthria1GRM1 CL E G H2911617691SPINOCEREBELLAR ATAXIA 44617691C4521563OMIM12984593604473
HP:0001260HP:0007024Pseudobulbar paralysis1GRM1 CL E G H2911617691SPINOCEREBELLAR ATAXIA 44617691C4521563OMIM12984593604473
HP:0001260HP:0008376Nasal, dysarthic speech1GRM1 CL E G H2911617691SPINOCEREBELLAR ATAXIA 44617691C4521563OMIM12984593604473
HP:0001260HP:0007024Pseudobulbar paralysis1GRM1 CL E G H2911614831Spinocerebellar ataxia, autosomal recessive 13614831C3553816OMIM12984593604473
HP:0001260HP:0008376Nasal, dysarthic speech1GRM1 CL E G H2911614831Spinocerebellar ataxia, autosomal recessive 13614831C3553816OMIM12984593604473
HP:0001260HP:0002464Spastic dysarthria1GRM1 CL E G H2911614831Spinocerebellar ataxia, autosomal recessive 13614831C3553816OMIM12984593604473
HP:0001260HP:0007024Pseudobulbar paralysis1GSS CL E G H2937266130Gluthathione synthetase deficiency266130C0398746OMIM12114624601002
HP:0001260HP:0008376Nasal, dysarthic speech1GSS CL E G H2937266130Gluthathione synthetase deficiency266130C0398746OMIM12114624601002
HP:0001260HP:0002464Spastic dysarthria1GSS CL E G H2937266130Gluthathione synthetase deficiency266130C0398746OMIM12114624601002
HP:0001260HP:0008376Nasal, dysarthic speech1HACE1 CL E G H57531464282ORPHA122721033610876
HP:0001260HP:0002464Spastic dysarthria1HACE1 CL E G H57531464282ORPHA122721033610876
HP:0001260HP:0007024Pseudobulbar paralysis1HACE1 CL E G H57531464282ORPHA122721033610876
HP:0001260HP:0007024Pseudobulbar paralysis1HEPACAM CL E G H220296613925Megalencephalic leukoencephalopathy with subcortical cysts 2a613925C3151355OMIM130426361611642
HP:0001260HP:0008376Nasal, dysarthic speech1HEPACAM CL E G H220296613925Megalencephalic leukoencephalopathy with subcortical cysts 2a613925C3151355OMIM130426361611642
HP:0001260HP:0002464Spastic dysarthria1HEPACAM CL E G H220296613925Megalencephalic leukoencephalopathy with subcortical cysts 2a613925C3151355OMIM130426361611642
HP:0001260HP:0007024Pseudobulbar paralysis1HEXB CL E G H3074268800Sandhoff disease268800C0036161OMIM16284879606873
HP:0001260HP:0008376Nasal, dysarthic speech1HEXB CL E G H3074268800Sandhoff disease268800C0036161OMIM16284879606873
HP:0001260HP:0002464Spastic dysarthria1HEXB CL E G H3074268800Sandhoff disease268800C0036161OMIM16284879606873
HP:0001260HP:0007024Pseudobulbar paralysis1HOXB1 CL E G H3211614744Hereditary congenital facial paresis 3614744C3553625OMIM1445111142968
HP:0001260HP:0008376Nasal, dysarthic speech1HOXB1 CL E G H3211614744Hereditary congenital facial paresis 3614744C3553625OMIM1445111142968
HP:0001260HP:0002464Spastic dysarthria1HOXB1 CL E G H3211614744Hereditary congenital facial paresis 3614744C3553625OMIM1445111142968
HP:0001260HP:0008376Nasal, dysarthic speech1HPCA CL E G H320899657ORPHA1505144142622
HP:0001260HP:0002464Spastic dysarthria1HPCA CL E G H320899657ORPHA1505144142622
HP:0001260HP:0007024Pseudobulbar paralysis1HPCA CL E G H320899657ORPHA1505144142622
HP:0001260HP:0007024Pseudobulbar paralysis1HPCA CL E G H3208224500Dystonia 2, torsion, autosomal recessive224500C1857093OMIM1505144142622
HP:0001260HP:0008376Nasal, dysarthic speech1HPCA CL E G H3208224500Dystonia 2, torsion, autosomal recessive224500C1857093OMIM1505144142622
HP:0001260HP:0002464Spastic dysarthria1HPCA CL E G H3208224500Dystonia 2, torsion, autosomal recessive224500C1857093OMIM1505144142622
HP:0001260HP:0007024Pseudobulbar paralysis1HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0001260HP:0008376Nasal, dysarthic speech1HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0001260HP:0002464Spastic dysarthria1HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0001260HP:0007024Pseudobulbar paralysis1HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12564800300256
HP:0001260HP:0008376Nasal, dysarthic speech1HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12564800300256
HP:0001260HP:0002464Spastic dysarthria1HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12564800300256
HP:0001260HP:0007024Pseudobulbar paralysis1HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM12859476602194
HP:0001260HP:0008376Nasal, dysarthic speech1HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM12859476602194
HP:0001260HP:0002464Spastic dysarthria1HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM12859476602194
HP:0001260HP:0008376Nasal, dysarthic speech1IFRD1 CL E G H347598771ORPHA1695456603502
HP:0001260HP:0002464Spastic dysarthria1IFRD1 CL E G H347598771ORPHA1695456603502
HP:0001260HP:0007024Pseudobulbar paralysis1IFRD1 CL E G H347598771ORPHA1695456603502
HP:0001260HP:0008376Nasal, dysarthic speech1INPP5K CL E G H51763559ORPHA118733882607875
HP:0001260HP:0002464Spastic dysarthria1INPP5K CL E G H51763559ORPHA118733882607875
HP:0001260HP:0007024Pseudobulbar paralysis1INPP5K CL E G H51763559ORPHA118733882607875
HP:0001260HP:0002464Spastic dysarthria1IRF2BPL CL E G H64207618088NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES618088CN252701OMIM131214282611720
HP:0001260HP:0007024Pseudobulbar paralysis1IRF2BPL CL E G H64207618088NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES618088CN252701OMIM131214282611720
HP:0001260HP:0008376Nasal, dysarthic speech1IRF2BPL CL E G H64207618088NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES618088CN252701OMIM131214282611720
HP:0001260HP:0008376Nasal, dysarthic speech1ITPR1 CL E G H3708208513ORPHA115636180147265
HP:0001260HP:0002464Spastic dysarthria1ITPR1 CL E G H3708208513ORPHA115636180147265
HP:0001260HP:0007024Pseudobulbar paralysis1ITPR1 CL E G H3708208513ORPHA115636180147265
HP:0001260HP:0007024Pseudobulbar paralysis1ITPR1 CL E G H3708606658Spinocerebellar ataxia 15606658C1847725OMIM115636180147265
HP:0001260HP:0008376Nasal, dysarthic speech1ITPR1 CL E G H3708606658Spinocerebellar ataxia 15606658C1847725OMIM115636180147265
HP:0001260HP:0002464Spastic dysarthria1ITPR1 CL E G H3708606658Spinocerebellar ataxia 15606658C1847725OMIM115636180147265
HP:0001260HP:0007024Pseudobulbar paralysis1ITPR1 CL E G H3708117360Spinocerebellar ataxia 29117360C1861732OMIM115636180147265
HP:0001260HP:0008376Nasal, dysarthic speech1ITPR1 CL E G H3708117360Spinocerebellar ataxia 29117360C1861732OMIM115636180147265
HP:0001260HP:0002464Spastic dysarthria1ITPR1 CL E G H3708117360Spinocerebellar ataxia 29117360C1861732OMIM115636180147265
HP:0001260HP:0007024Pseudobulbar paralysis1JPH3 CL E G H57338606438Huntington disease-like 2606438C1847987OMIM117614203605268
HP:0001260HP:0008376Nasal, dysarthic speech1JPH3 CL E G H57338606438Huntington disease-like 2606438C1847987OMIM117614203605268
HP:0001260HP:0002464Spastic dysarthria1JPH3 CL E G H57338606438Huntington disease-like 2606438C1847987OMIM117614203605268
HP:0001260HP:0008376Nasal, dysarthic speech1KAT6B CL E G H23522648ORPHA1100317582605880
HP:0001260HP:0002464Spastic dysarthria1KAT6B CL E G H23522648ORPHA1100317582605880
HP:0001260HP:0007024Pseudobulbar paralysis1KAT6B CL E G H23522648ORPHA1100317582605880
HP:0001260HP:0008376Nasal, dysarthic speech1KCNA1 CL E G H373637612ORPHA15756218176260
HP:0001260HP:0008376Nasal, dysarthic speech1KCNA1 CL E G H3736972ORPHA15756218176260
HP:0001260HP:0002464Spastic dysarthria1KCNA1 CL E G H373637612ORPHA15756218176260
HP:0001260HP:0002464Spastic dysarthria1KCNA1 CL E G H3736972ORPHA15756218176260
HP:0001260HP:0007024Pseudobulbar paralysis1KCNA1 CL E G H3736972ORPHA15756218176260
HP:0001260HP:0007024Pseudobulbar paralysis1KCNA1 CL E G H373637612ORPHA15756218176260
HP:0001260HP:0007024Pseudobulbar paralysis1KCNA1 CL E G H3736160120Episodic ataxia type 1160120C1719788OMIM15756218176260
HP:0001260HP:0008376Nasal, dysarthic speech1KCNA1 CL E G H3736160120Episodic ataxia type 1160120C1719788OMIM15756218176260
HP:0001260HP:0002464Spastic dysarthria1KCNA1 CL E G H3736160120Episodic ataxia type 1160120C1719788OMIM15756218176260
HP:0001260HP:0002464Spastic dysarthria1KCNA4 CL E G H3739618284618284618284OMIM1546222176266
HP:0001260HP:0007024Pseudobulbar paralysis1KCNA4 CL E G H3739618284618284618284OMIM1546222176266
HP:0001260HP:0008376Nasal, dysarthic speech1KCNA4 CL E G H3739618284618284618284OMIM1546222176266
HP:0001260HP:0008376Nasal, dysarthic speech1KCNC3 CL E G H374898768ORPHA13116235176264
HP:0001260HP:0002464Spastic dysarthria1KCNC3 CL E G H374898768ORPHA13116235176264
HP:0001260HP:0007024Pseudobulbar paralysis1KCNC3 CL E G H374898768ORPHA13116235176264
HP:0001260HP:0007024Pseudobulbar paralysis1KCNC3 CL E G H3748605259Spinocerebellar ataxia 13605259C1854488OMIM13116235176264
HP:0001260HP:0008376Nasal, dysarthic speech1KCNC3 CL E G H3748605259Spinocerebellar ataxia 13605259C1854488OMIM13116235176264
HP:0001260HP:0002464Spastic dysarthria1KCNC3 CL E G H3748605259Spinocerebellar ataxia 13605259C1854488OMIM13116235176264
HP:0001260HP:0007024Pseudobulbar paralysis1KCND3 CL E G H3752607346Spinocerebellar ataxia 19607346C1846367OMIM14676239605411
HP:0001260HP:0008376Nasal, dysarthic speech1KCND3 CL E G H3752607346Spinocerebellar ataxia 19607346C1846367OMIM14676239605411
HP:0001260HP:0002464Spastic dysarthria1KCND3 CL E G H3752607346Spinocerebellar ataxia 19607346C1846367OMIM14676239605411
HP:0001260HP:0002464Spastic dysarthria1KCTD17 CL E G H79734616398Dystonia 26, myoclonic616398C4225341OMIM114425705616386
HP:0001260HP:0007024Pseudobulbar paralysis1KCTD17 CL E G H79734616398Dystonia 26, myoclonic616398C4225341OMIM114425705616386
HP:0001260HP:0008376Nasal, dysarthic speech1KCTD17 CL E G H79734616398Dystonia 26, myoclonic616398C4225341OMIM114425705616386
HP:0001260HP:0008376Nasal, dysarthic speech1KCTD7 CL E G H154881263516ORPHA142721957611725
HP:0001260HP:0002464Spastic dysarthria1KCTD7 CL E G H154881263516ORPHA142721957611725
HP:0001260HP:0007024Pseudobulbar paralysis1KCTD7 CL E G H154881263516ORPHA142721957611725
HP:0001260HP:0007024Pseudobulbar paralysis1KCTD7 CL E G H154881611726Epilepsy, progressive myoclonic 3611726C2673257OMIM142721957611725
HP:0001260HP:0008376Nasal, dysarthic speech1KCTD7 CL E G H154881611726Epilepsy, progressive myoclonic 3611726C2673257OMIM142721957611725
HP:0001260HP:0002464Spastic dysarthria1KCTD7 CL E G H154881611726Epilepsy, progressive myoclonic 3611726C2673257OMIM142721957611725
HP:0001260HP:0008376Nasal, dysarthic speech1KIF1C CL E G H10749397946ORPHA15796317603060
HP:0001260HP:0002464Spastic dysarthria1KIF1C CL E G H10749397946ORPHA15796317603060
HP:0001260HP:0007024Pseudobulbar paralysis1KIF1C CL E G H10749397946ORPHA15796317603060
HP:0001260HP:0007024Pseudobulbar paralysis1KIF1C CL E G H10749611302Ataxia, spastic, 2, autosomal recessive611302C1969796OMIM15796317603060
HP:0001260HP:0008376Nasal, dysarthic speech1KIF1C CL E G H10749611302Ataxia, spastic, 2, autosomal recessive611302C1969796OMIM15796317603060
HP:0001260HP:0002464Spastic dysarthria1KIF1C CL E G H10749611302Ataxia, spastic, 2, autosomal recessive611302C1969796OMIM15796317603060
HP:0001260HP:0008376Nasal, dysarthic speech1KLC2 CL E G H64837320406ORPHA110420716611729
HP:0001260HP:0002464Spastic dysarthria1KLC2 CL E G H64837320406ORPHA110420716611729
HP:0001260HP:0007024Pseudobulbar paralysis1KLC2 CL E G H64837320406ORPHA110420716611729
HP:0001260HP:0007024Pseudobulbar paralysis1KLC2 CL E G H64837609541Spastic paraplegia, optic atrophy, and neuropathy609541C1836010OMIM110420716611729
HP:0001260HP:0008376Nasal, dysarthic speech1KLC2 CL E G H64837609541Spastic paraplegia, optic atrophy, and neuropathy609541C1836010OMIM110420716611729
HP:0001260HP:0002464Spastic dysarthria1KLC2 CL E G H64837609541Spastic paraplegia, optic atrophy, and neuropathy609541C1836010OMIM110420716611729
HP:0001260HP:0002464Spastic dysarthria1KMT2B CL E G H9757617284Dystonia 28, childhood-onset617284C4310633OMIM1130315840606834
HP:0001260HP:0007024Pseudobulbar paralysis1KMT2B CL E G H9757617284Dystonia 28, childhood-onset617284C4310633OMIM1130315840606834
HP:0001260HP:0008376Nasal, dysarthic speech1KMT2B CL E G H9757617284Dystonia 28, childhood-onset617284C4310633OMIM1130315840606834
HP:0001260HP:0008376Nasal, dysarthic speech1KRAS CL E G H3845648ORPHA14806407190070
HP:0001260HP:0002464Spastic dysarthria1KRAS CL E G H3845648ORPHA14806407190070
HP:0001260HP:0007024Pseudobulbar paralysis1KRAS CL E G H3845648ORPHA14806407190070
HP:0001260HP:0008376Nasal, dysarthic speech1LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0001260HP:0002464Spastic dysarthria1LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0001260HP:0007024Pseudobulbar paralysis1LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0001260HP:0007024Pseudobulbar paralysis1LYRM7 CL E G H90624615838Mitochondrial complex III deficiency, nuclear type 8615838C4014440OMIM19228072615831
HP:0001260HP:0008376Nasal, dysarthic speech1LYRM7 CL E G H90624615838Mitochondrial complex III deficiency, nuclear type 8615838C4014440OMIM19228072615831
HP:0001260HP:0002464Spastic dysarthria1LYRM7 CL E G H90624615838Mitochondrial complex III deficiency, nuclear type 8615838C4014440OMIM19228072615831
HP:0001260HP:0008376Nasal, dysarthic speech1LZTR1 CL E G H8216648ORPHA128596742600574
HP:0001260HP:0002464Spastic dysarthria1LZTR1 CL E G H8216648ORPHA128596742600574
HP:0001260HP:0007024Pseudobulbar paralysis1LZTR1 CL E G H8216648ORPHA128596742600574
HP:0001260HP:0007024Pseudobulbar paralysis1MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM113516826609458
HP:0001260HP:0008376Nasal, dysarthic speech1MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM113516826609458
HP:0001260HP:0002464Spastic dysarthria1MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM113516826609458
HP:0001260HP:0007024Pseudobulbar paralysis1MAPT CL E G H4137601104Progressive supranuclear ophthalmoplegia601104C0038868OMIM15816893157140
HP:0001260HP:0008376Nasal, dysarthic speech1MAPT CL E G H4137601104Progressive supranuclear ophthalmoplegia601104C0038868OMIM15816893157140
HP:0001260HP:0002464Spastic dysarthria1MAPT CL E G H4137601104Progressive supranuclear ophthalmoplegia601104C0038868OMIM15816893157140
HP:0001260HP:0008376Nasal, dysarthic speech1MATR3 CL E G H9782600ORPHA14506912164015
HP:0001260HP:0002464Spastic dysarthria1MATR3 CL E G H9782600ORPHA14506912164015
HP:0001260HP:0007024Pseudobulbar paralysis1MATR3 CL E G H9782600ORPHA14506912164015
HP:0001260HP:0007024Pseudobulbar paralysis1MATR3 CL E G H9782606070Amyotrophic lateral sclerosis 21606070C3807521OMIM14506912164015
HP:0001260HP:0008376Nasal, dysarthic speech1MATR3 CL E G H9782606070Amyotrophic lateral sclerosis 21606070C3807521OMIM14506912164015
HP:0001260HP:0002464Spastic dysarthria1MATR3 CL E G H9782606070Amyotrophic lateral sclerosis 21606070C3807521OMIM14506912164015
HP:0001260HP:0002464Spastic dysarthria1MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM115119691608205
HP:0001260HP:0007024Pseudobulbar paralysis1MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM115119691608205
HP:0001260HP:0008376Nasal, dysarthic speech1MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM115119691608205
HP:0001260HP:0002464Spastic dysarthria1MED13L CL E G H23389616789Mental retardation and distinctive facial features with or without cardiac defects616789C4225208OMIM1104722962608771
HP:0001260HP:0007024Pseudobulbar paralysis1MED13L CL E G H23389616789Mental retardation and distinctive facial features with or without cardiac defects616789C4225208OMIM1104722962608771
HP:0001260HP:0008376Nasal, dysarthic speech1MED13L CL E G H23389616789Mental retardation and distinctive facial features with or without cardiac defects616789C4225208OMIM1104722962608771
HP:0001260HP:0008376Nasal, dysarthic speech1MICOS13 CL E G H12598867047ORPHA13433702616658
HP:0001260HP:0002464Spastic dysarthria1MICOS13 CL E G H12598867047ORPHA13433702616658
HP:0001260HP:0007024Pseudobulbar paralysis1MICOS13 CL E G H12598867047ORPHA13433702616658
HP:0001260HP:0008376Nasal, dysarthic speech1MME CL E G H4311497764ORPHA15777154120520
HP:0001260HP:0002464Spastic dysarthria1MME CL E G H4311497764ORPHA15777154120520
HP:0001260HP:0007024Pseudobulbar paralysis1MME CL E G H4311497764ORPHA15777154120520
HP:0001260HP:0002464Spastic dysarthria1MME CL E G H4311617018Spinocerebellar ataxia 43617018C4310763OMIM15777154120520
HP:0001260HP:0007024Pseudobulbar paralysis1MME CL E G H4311617018Spinocerebellar ataxia 43617018C4310763OMIM15777154120520
HP:0001260HP:0008376Nasal, dysarthic speech1MME CL E G H4311617018Spinocerebellar ataxia 43617018C4310763OMIM15777154120520
HP:0001260HP:0008376Nasal, dysarthic speech1MMUT CL E G H459479312ORPHA18967526609058
HP:0001260HP:0002464Spastic dysarthria1MMUT CL E G H459479312ORPHA18967526609058
HP:0001260HP:0007024Pseudobulbar paralysis1MMUT CL E G H459479312ORPHA18967526609058
HP:0001260HP:0008376Nasal, dysarthic speech1MRE11 CL E G H4361251347ORPHA119117230600814
HP:0001260HP:0002464Spastic dysarthria1MRE11 CL E G H4361251347ORPHA119117230600814
HP:0001260HP:0007024Pseudobulbar paralysis1MRE11 CL E G H4361251347ORPHA119117230600814
HP:0001260HP:0007024Pseudobulbar paralysis1MRE11 CL E G H4361604391Ataxia-telangiectasia-like disorder 1604391C1858391OMIM119117230600814
HP:0001260HP:0008376Nasal, dysarthic speech1MRE11 CL E G H4361604391Ataxia-telangiectasia-like disorder 1604391C1858391OMIM119117230600814
HP:0001260HP:0002464Spastic dysarthria1MRE11 CL E G H4361604391Ataxia-telangiectasia-like disorder 1604391C1858391OMIM119117230600814
HP:0001260HP:0008376Nasal, dysarthic speech1MT-ATP6 CL E G H4508225154ORPHA17414516060
HP:0001260HP:0002464Spastic dysarthria1MT-ATP6 CL E G H4508225154ORPHA17414516060
HP:0001260HP:0007024Pseudobulbar paralysis1MT-ATP6 CL E G H4508225154ORPHA17414516060
HP:0001260HP:0008376Nasal, dysarthic speech1MTFMT CL E G H123263255241ORPHA124329666611766
HP:0001260HP:0002464Spastic dysarthria1MTFMT CL E G H123263255241ORPHA124329666611766
HP:0001260HP:0007024Pseudobulbar paralysis1MTFMT CL E G H123263255241ORPHA124329666611766
HP:0001260HP:0008376Nasal, dysarthic speech1MTPAP CL E G H55149254343ORPHA134625532613669
HP:0001260HP:0002464Spastic dysarthria1MTPAP CL E G H55149254343ORPHA134625532613669
HP:0001260HP:0007024Pseudobulbar paralysis1MTPAP CL E G H55149254343ORPHA134625532613669
HP:0001260HP:0007024Pseudobulbar paralysis1MTPAP CL E G H55149613672Ataxia, spastic, 4, autosomal recessive613672C3150925OMIM134625532613669
HP:0001260HP:0008376Nasal, dysarthic speech1MTPAP CL E G H55149613672Ataxia, spastic, 4, autosomal recessive613672C3150925OMIM134625532613669
HP:0001260HP:0002464Spastic dysarthria1MTPAP CL E G H55149613672Ataxia, spastic, 4, autosomal recessive613672C3150925OMIM134625532613669
HP:0001260HP:0008376Nasal, dysarthic speech1MYOT CL E G H949998911ORPHA137212399604103
HP:0001260HP:0002464Spastic dysarthria1MYOT CL E G H949998911ORPHA137212399604103
HP:0001260HP:0007024Pseudobulbar paralysis1MYOT CL E G H949998911ORPHA137212399604103
HP:0001260HP:0008376Nasal, dysarthic speech1NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0001260HP:0002464Spastic dysarthria1NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0001260HP:0007024Pseudobulbar paralysis1NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0001260HP:0008376Nasal, dysarthic speech1NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0001260HP:0002464Spastic dysarthria1NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0001260HP:0007024Pseudobulbar paralysis1NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0001260HP:0008376Nasal, dysarthic speech1NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0001260HP:0002464Spastic dysarthria1NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0001260HP:0007024Pseudobulbar paralysis1NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0001260HP:0008376Nasal, dysarthic speech1NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0001260HP:0002464Spastic dysarthria1NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0001260HP:0007024Pseudobulbar paralysis1NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0001260HP:0008376Nasal, dysarthic speech1NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0001260HP:0002464Spastic dysarthria1NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0001260HP:0007024Pseudobulbar paralysis1NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0001260HP:0008376Nasal, dysarthic speech1NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0001260HP:0002464Spastic dysarthria1NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0001260HP:0007024Pseudobulbar paralysis1NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0001260HP:0002464Spastic dysarthria1NDUFA9 CL E G H4704618247MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26618247OMIM12357693603834
HP:0001260HP:0007024Pseudobulbar paralysis1NDUFA9 CL E G H4704618247MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26618247OMIM12357693603834
HP:0001260HP:0008376Nasal, dysarthic speech1NDUFA9 CL E G H4704618247MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26618247OMIM12357693603834
HP:0001260HP:0008376Nasal, dysarthic speech1NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0001260HP:0002464Spastic dysarthria1NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0001260HP:0007024Pseudobulbar paralysis1NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0001260HP:0008376Nasal, dysarthic speech1NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0001260HP:0002464Spastic dysarthria1NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0001260HP:0007024Pseudobulbar paralysis1NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0001260HP:0002464Spastic dysarthria1NDUFAF5 CL E G H79133618238MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16618238OMIM138315899612360
HP:0001260HP:0007024Pseudobulbar paralysis1NDUFAF5 CL E G H79133618238MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16618238OMIM138315899612360
HP:0001260HP:0008376Nasal, dysarthic speech1NDUFAF5 CL E G H79133618238MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16618238OMIM138315899612360
HP:0001260HP:0008376Nasal, dysarthic speech1NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0001260HP:0002464Spastic dysarthria1NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0001260HP:0007024Pseudobulbar paralysis1NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0001260HP:0002464Spastic dysarthria1NDUFAF6 CL E G H137682618239MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17618239OMIM128128625612392
HP:0001260HP:0007024Pseudobulbar paralysis1NDUFAF6 CL E G H137682618239MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17618239OMIM128128625612392
HP:0001260HP:0008376Nasal, dysarthic speech1NDUFAF6 CL E G H137682618239MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17618239OMIM128128625612392
HP:0001260HP:0008376Nasal, dysarthic speech1NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0001260HP:0002464Spastic dysarthria1NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0001260HP:0007024Pseudobulbar paralysis1NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0001260HP:0008376Nasal, dysarthic speech1NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0001260HP:0002464Spastic dysarthria1NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0001260HP:0007024Pseudobulbar paralysis1NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0001260HP:0008376Nasal, dysarthic speech1NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0001260HP:0002464Spastic dysarthria1NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0001260HP:0007024Pseudobulbar paralysis1NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0001260HP:0008376Nasal, dysarthic speech1NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0001260HP:0002464Spastic dysarthria1NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0001260HP:0007024Pseudobulbar paralysis1NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0001260HP:0008376Nasal, dysarthic speech1NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0001260HP:0002464Spastic dysarthria1NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0001260HP:0007024Pseudobulbar paralysis1NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0001260HP:0002464Spastic dysarthria1NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM12157714601825
HP:0001260HP:0007024Pseudobulbar paralysis1NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM12157714601825
HP:0001260HP:0008376Nasal, dysarthic speech1NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM12157714601825
HP:0001260HP:0008376Nasal, dysarthic speech1NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0001260HP:0002464Spastic dysarthria1NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0001260HP:0007024Pseudobulbar paralysis1NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0001260HP:0002464Spastic dysarthria1NDUFS8 CL E G H4728618222MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2618222OMIM11297715602141
HP:0001260HP:0007024Pseudobulbar paralysis1NDUFS8 CL E G H4728618222MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2618222OMIM11297715602141
HP:0001260HP:0008376Nasal, dysarthic speech1NDUFS8 CL E G H4728618222MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2618222OMIM11297715602141
HP:0001260HP:0008376Nasal, dysarthic speech1NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0001260HP:0002464Spastic dysarthria1NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0001260HP:0007024Pseudobulbar paralysis1NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0001260HP:0008376Nasal, dysarthic speech1NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0001260HP:0002464Spastic dysarthria1NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0001260HP:0007024Pseudobulbar paralysis1NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0001260HP:0007024Pseudobulbar paralysis1NKX2-1 CL E G H7080610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress610978C1970269OMIM131711825600635
HP:0001260HP:0008376Nasal, dysarthic speech1NKX2-1 CL E G H7080610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress610978C1970269OMIM131711825600635
HP:0001260HP:0002464Spastic dysarthria1NKX2-1 CL E G H7080610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress610978C1970269OMIM131711825600635
HP:0001260HP:0008376Nasal, dysarthic speech1NKX6-2 CL E G H84504527497ORPHA123319321605955
HP:0001260HP:0002464Spastic dysarthria1NKX6-2 CL E G H84504527497ORPHA123319321605955
HP:0001260HP:0007024Pseudobulbar paralysis1NKX6-2 CL E G H84504527497ORPHA123319321605955
HP:0001260HP:0002464Spastic dysarthria1NKX6-2 CL E G H84504617560SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY617560C4479653OMIM123319321605955
HP:0001260HP:0007024Pseudobulbar paralysis1NKX6-2 CL E G H84504617560SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY617560C4479653OMIM123319321605955
HP:0001260HP:0008376Nasal, dysarthic speech1NKX6-2 CL E G H84504617560SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY617560C4479653OMIM123319321605955
HP:0001260HP:0008376Nasal, dysarthic speech1NOP56 CL E G H10528276198ORPHA16715911614154
HP:0001260HP:0002464Spastic dysarthria1NOP56 CL E G H10528276198ORPHA16715911614154
HP:0001260HP:0007024Pseudobulbar paralysis1NOP56 CL E G H10528276198ORPHA16715911614154
HP:0001260HP:0007024Pseudobulbar paralysis1NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM121097897607623
HP:0001260HP:0008376Nasal, dysarthic speech1NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM121097897607623
HP:0001260HP:0002464Spastic dysarthria1NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM121097897607623
HP:0001260HP:0007024Pseudobulbar paralysis1NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM123214537601015
HP:0001260HP:0008376Nasal, dysarthic speech1NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM123214537601015
HP:0001260HP:0002464Spastic dysarthria1NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM123214537601015
HP:0001260HP:0007024Pseudobulbar paralysis1NR4A2 CL E G H4929168600Parkinson disease, late-onset168600C3160718OMIM11437981601828
HP:0001260HP:0008376Nasal, dysarthic speech1NR4A2 CL E G H4929168600Parkinson disease, late-onset168600C3160718OMIM11437981601828
HP:0001260HP:0002464Spastic dysarthria1NR4A2 CL E G H4929168600Parkinson disease, late-onset168600C3160718OMIM11437981601828
HP:0001260HP:0008376Nasal, dysarthic speech1NRAS CL E G H4893648ORPHA12817989164790
HP:0001260HP:0002464Spastic dysarthria1NRAS CL E G H4893648ORPHA12817989164790
HP:0001260HP:0007024Pseudobulbar paralysis1NRAS CL E G H4893648ORPHA12817989164790
HP:0001260HP:0007024Pseudobulbar paralysis1NSUN2 CL E G H54888611091Mental retardation, autosomal recessive 5611091C1970199OMIM156625994610916
HP:0001260HP:0008376Nasal, dysarthic speech1NSUN2 CL E G H54888611091Mental retardation, autosomal recessive 5611091C1970199OMIM156625994610916
HP:0001260HP:0002464Spastic dysarthria1NSUN2 CL E G H54888611091Mental retardation, autosomal recessive 5611091C1970199OMIM156625994610916
HP:0001260HP:0002464Spastic dysarthria1NUBPL CL E G H80224618242MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21618242OMIM128420278613621
HP:0001260HP:0007024Pseudobulbar paralysis1NUBPL CL E G H80224618242MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21618242OMIM128420278613621
HP:0001260HP:0008376Nasal, dysarthic speech1NUBPL CL E G H80224618242MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21618242OMIM128420278613621
HP:0001260HP:0008376Nasal, dysarthic speech1NUP62 CL E G H23636225154ORPHA11618066605815
HP:0001260HP:0002464Spastic dysarthria1NUP62 CL E G H23636225154ORPHA11618066605815
HP:0001260HP:0007024Pseudobulbar paralysis1NUP62 CL E G H23636225154ORPHA11618066605815
HP:0001260HP:0008376Nasal, dysarthic speech1OPA3 CL E G H8020767047ORPHA15238142606580
HP:0001260HP:0002464Spastic dysarthria1OPA3 CL E G H8020767047ORPHA15238142606580
HP:0001260HP:0007024Pseudobulbar paralysis1OPA3 CL E G H8020767047ORPHA15238142606580
HP:0001260HP:0007024Pseudobulbar paralysis1OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM15238142606580
HP:0001260HP:0008376Nasal, dysarthic speech1OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM15238142606580
HP:0001260HP:0002464Spastic dysarthria1OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM15238142606580
HP:0001260HP:0007024Pseudobulbar paralysis1OPTN CL E G H10133613435Amyotrophic lateral sclerosis type 12613435C3150692OMIM142817142602432
HP:0001260HP:0008376Nasal, dysarthic speech1OPTN CL E G H10133613435Amyotrophic lateral sclerosis type 12613435C3150692OMIM142817142602432
HP:0001260HP:0002464Spastic dysarthria1OPTN CL E G H10133613435Amyotrophic lateral sclerosis type 12613435C3150692OMIM142817142602432
HP:0001260HP:0007024Pseudobulbar paralysis1PABPN1 CL E G H8106164300Oculopharyngeal muscular dystrophy164300C0270952OMIM1858565602279
HP:0001260HP:0008376Nasal, dysarthic speech1PABPN1 CL E G H8106164300Oculopharyngeal muscular dystrophy164300C0270952OMIM1858565602279
HP:0001260HP:0002464Spastic dysarthria1PABPN1 CL E G H8106164300Oculopharyngeal muscular dystrophy164300C0270952OMIM1858565602279
HP:0001260HP:0008376Nasal, dysarthic speech1PANK2 CL E G H80025216866ORPHA149915894606157
HP:0001260HP:0008376Nasal, dysarthic speech1PANK2 CL E G H80025216873ORPHA149915894606157
HP:0001260HP:0002464Spastic dysarthria1PANK2 CL E G H80025216866ORPHA149915894606157
HP:0001260HP:0002464Spastic dysarthria1PANK2 CL E G H80025216873ORPHA149915894606157
HP:0001260HP:0007024Pseudobulbar paralysis1PANK2 CL E G H80025216866ORPHA149915894606157
HP:0001260HP:0007024Pseudobulbar paralysis1PANK2 CL E G H80025216873ORPHA149915894606157
HP:0001260HP:0007024Pseudobulbar paralysis1PANK2 CL E G H80025607236Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration607236C1846582OMIM149915894606157
HP:0001260HP:0008376Nasal, dysarthic speech1PANK2 CL E G H80025607236Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration607236C1846582OMIM149915894606157
HP:0001260HP:0002464Spastic dysarthria1PANK2 CL E G H80025607236Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration607236C1846582OMIM149915894606157
HP:0001260HP:0007024Pseudobulbar paralysis1PANK2 CL E G H80025234200Pigmentary pallidal degeneration234200C0018523OMIM149915894606157
HP:0001260HP:0008376Nasal, dysarthic speech1PANK2 CL E G H80025234200Pigmentary pallidal degeneration234200C0018523OMIM149915894606157
HP:0001260HP:0002464Spastic dysarthria1PANK2 CL E G H80025234200Pigmentary pallidal degeneration234200C0018523OMIM149915894606157
HP:0001260HP:0002464Spastic dysarthria1PCNA CL E G H5111615919Ataxia-telangiectasia-like disorder 2615919C4014676OMIM1488729176740
HP:0001260HP:0007024Pseudobulbar paralysis1PCNA CL E G H5111615919Ataxia-telangiectasia-like disorder 2615919C4014676OMIM1488729176740
HP:0001260HP:0008376Nasal, dysarthic speech1PCNA CL E G H5111615919Ataxia-telangiectasia-like disorder 2615919C4014676OMIM1488729176740
HP:0001260HP:0008376Nasal, dysarthic speech1PDE10A CL E G H10846494526ORPHA12228772610652
HP:0001260HP:0002464Spastic dysarthria1PDE10A CL E G H10846494526ORPHA12228772610652
HP:0001260HP:0007024Pseudobulbar paralysis1PDE10A CL E G H10846494526ORPHA12228772610652
HP:0001260HP:0002464Spastic dysarthria1PDE10A CL E G H10846616921Dyskinesia, limb and orofacial, infantile-onset616921C4310792OMIM12228772610652
HP:0001260HP:0007024Pseudobulbar paralysis1PDE10A CL E G H10846616921Dyskinesia, limb and orofacial, infantile-onset616921C4310792OMIM12228772610652
HP:0001260HP:0008376Nasal, dysarthic speech1PDE10A CL E G H10846616921Dyskinesia, limb and orofacial, infantile-onset616921C4310792OMIM12228772610652
HP:0001260HP:0008376Nasal, dysarthic speech1PDE8B CL E G H8622228169Autosomal dominant striatal neurodegenerationC1836694ORPHA12438794603390
HP:0001260HP:0002464Spastic dysarthria1PDE8B CL E G H8622228169Autosomal dominant striatal neurodegenerationC1836694ORPHA12438794603390
HP:0001260HP:0007024Pseudobulbar paralysis1PDE8B CL E G H8622228169Autosomal dominant striatal neurodegenerationC1836694ORPHA12438794603390
HP:0001260HP:0007024Pseudobulbar paralysis1PDE8B CL E G H8622609161Striatal degeneration, autosomal dominant 1609161C4310808OMIM12438794603390
HP:0001260HP:0008376Nasal, dysarthic speech1PDE8B CL E G H8622609161Striatal degeneration, autosomal dominant 1609161C4310808OMIM12438794603390
HP:0001260HP:0002464Spastic dysarthria1PDE8B CL E G H8622609161Striatal degeneration, autosomal dominant 1609161C4310808OMIM12438794603390
HP:0001260HP:0007024Pseudobulbar paralysis1PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM11518800190040
HP:0001260HP:0008376Nasal, dysarthic speech1PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM11518800190040
HP:0001260HP:0002464Spastic dysarthria1PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM11518800190040
HP:0001260HP:0007024Pseudobulbar paralysis1PDGFB CL E G H5155615483Idiopathic basal ganglia calcification 5615483C3809645OMIM11518800190040
HP:0001260HP:0008376Nasal, dysarthic speech1PDGFB CL E G H5155615483Idiopathic basal ganglia calcification 5615483C3809645OMIM11518800190040
HP:0001260HP:0002464Spastic dysarthria1PDGFB CL E G H5155615483Idiopathic basal ganglia calcification 5615483C3809645OMIM11518800190040
HP:0001260HP:0007024Pseudobulbar paralysis1PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM15318804173410
HP:0001260HP:0008376Nasal, dysarthic speech1PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM15318804173410
HP:0001260HP:0002464Spastic dysarthria1PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM15318804173410
HP:0001260HP:0008376Nasal, dysarthic speech1PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0001260HP:0002464Spastic dysarthria1PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0001260HP:0007024Pseudobulbar paralysis1PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0001260HP:0008376Nasal, dysarthic speech1PDYN CL E G H5173101108ORPHA12008820131340
HP:0001260HP:0002464Spastic dysarthria1PDYN CL E G H5173101108ORPHA12008820131340
HP:0001260HP:0007024Pseudobulbar paralysis1PDYN CL E G H5173101108ORPHA12008820131340
HP:0001260HP:0007024Pseudobulbar paralysis1PDYN CL E G H5173610245Spinocerebellar ataxia 23610245C1853250OMIM12008820131340
HP:0001260HP:0008376Nasal, dysarthic speech1PDYN CL E G H5173610245Spinocerebellar ataxia 23610245C1853250OMIM12008820131340
HP:0001260HP:0002464Spastic dysarthria1PDYN CL E G H5173610245Spinocerebellar ataxia 23610245C1853250OMIM12008820131340
HP:0001260HP:0008376Nasal, dysarthic speech1PET100 CL E G H100131801255241ORPHA17640038614770
HP:0001260HP:0002464Spastic dysarthria1PET100 CL E G H100131801255241ORPHA17640038614770
HP:0001260HP:0007024Pseudobulbar paralysis1PET100 CL E G H100131801255241ORPHA17640038614770
HP:0001260HP:0008376Nasal, dysarthic speech1PEX10 CL E G H5192247815ORPHA18038851602859
HP:0001260HP:0002464Spastic dysarthria1PEX10 CL E G H5192247815ORPHA18038851602859
HP:0001260HP:0007024Pseudobulbar paralysis1PEX10 CL E G H5192247815ORPHA18038851602859
HP:0001260HP:0007024Pseudobulbar paralysis1PEX10 CL E G H5192614871Peroxisome biogenesis disorder 6B614871C3553948OMIM18038851602859
HP:0001260HP:0008376Nasal, dysarthic speech1PEX10 CL E G H5192614871Peroxisome biogenesis disorder 6B614871C3553948OMIM18038851602859
HP:0001260HP:0002464Spastic dysarthria1PEX10 CL E G H5192614871Peroxisome biogenesis disorder 6B614871C3553948OMIM18038851602859
HP:0001260HP:0007024Pseudobulbar paralysis1PEX16 CL E G H9409614877Peroxisome biogenesis disorder 8B614877C3553960OMIM14708857603360
HP:0001260HP:0008376Nasal, dysarthic speech1PEX16 CL E G H9409614877Peroxisome biogenesis disorder 8B614877C3553960OMIM14708857603360
HP:0001260HP:0002464Spastic dysarthria1PEX16 CL E G H9409614877Peroxisome biogenesis disorder 8B614877C3553960OMIM14708857603360
HP:0001260HP:0007024Pseudobulbar paralysis1PEX2 CL E G H5828614867Peroxisome biogenesis disorder 5B614867C3542026OMIM14639717170993
HP:0001260HP:0008376Nasal, dysarthic speech1PEX2 CL E G H5828614867Peroxisome biogenesis disorder 5B614867C3542026OMIM14639717170993
HP:0001260HP:0002464Spastic dysarthria1PEX2 CL E G H5828614867Peroxisome biogenesis disorder 5B614867C3542026OMIM14639717170993
HP:0001260HP:0007024Pseudobulbar paralysis1PFN1 CL E G H5216614808Amyotrophic lateral sclerosis 18614808C3553719OMIM11018881176610
HP:0001260HP:0008376Nasal, dysarthic speech1PFN1 CL E G H5216614808Amyotrophic lateral sclerosis 18614808C3553719OMIM11018881176610
HP:0001260HP:0002464Spastic dysarthria1PFN1 CL E G H5216614808Amyotrophic lateral sclerosis 18614808C3553719OMIM11018881176610
HP:0001260HP:0007024Pseudobulbar paralysis1PGM3 CL E G H5238615816Immunodeficiency 23615816C4014371OMIM13598907172100
HP:0001260HP:0008376Nasal, dysarthic speech1PGM3 CL E G H5238615816Immunodeficiency 23615816C4014371OMIM13598907172100
HP:0001260HP:0002464Spastic dysarthria1PGM3 CL E G H5238615816Immunodeficiency 23615816C4014371OMIM13598907172100
HP:0001260HP:0007024Pseudobulbar paralysis1PIK3R5 CL E G H23533615217Ataxia-oculomotor apraxia 3615217C3554690OMIM19030035611317
HP:0001260HP:0008376Nasal, dysarthic speech1PIK3R5 CL E G H23533615217Ataxia-oculomotor apraxia 3615217C3554690OMIM19030035611317
HP:0001260HP:0002464Spastic dysarthria1PIK3R5 CL E G H23533615217Ataxia-oculomotor apraxia 3615217C3554690OMIM19030035611317
HP:0001260HP:0008376Nasal, dysarthic speech1PLA2G6 CL E G H8398199351ORPHA17759039603604
HP:0001260HP:0002464Spastic dysarthria1PLA2G6 CL E G H8398199351ORPHA17759039603604
HP:0001260HP:0007024Pseudobulbar paralysis1PLA2G6 CL E G H8398199351ORPHA17759039603604
HP:0001260HP:0007024Pseudobulbar paralysis1PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001260HP:0008376Nasal, dysarthic speech1PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001260HP:0002464Spastic dysarthria1PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001260HP:0007024Pseudobulbar paralysis1PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM17759039603604
HP:0001260HP:0008376Nasal, dysarthic speech1PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM17759039603604
HP:0001260HP:0002464Spastic dysarthria1PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM17759039603604
HP:0001260HP:0002464Spastic dysarthria1PLD3 CL E G H23646617770SPINOCEREBELLAR ATAXIA 46617770C4540404OMIM111017158615698
HP:0001260HP:0007024Pseudobulbar paralysis1PLD3 CL E G H23646617770SPINOCEREBELLAR ATAXIA 46617770C4540404OMIM111017158615698
HP:0001260HP:0008376Nasal, dysarthic speech1PLD3 CL E G H23646617770SPINOCEREBELLAR ATAXIA 46617770C4540404OMIM111017158615698
HP:0001260HP:0008376Nasal, dysarthic speech1PLEKHG4 CL E G H2589498765ORPHA19724501609526
HP:0001260HP:0002464Spastic dysarthria1PLEKHG4 CL E G H2589498765ORPHA19724501609526
HP:0001260HP:0007024Pseudobulbar paralysis1PLEKHG4 CL E G H2589498765ORPHA19724501609526
HP:0001260HP:0007024Pseudobulbar paralysis1PLP1 CL E G H5354312080Pelizaeus-Merzbacher disease312080C0205711OMIM14519086300401
HP:0001260HP:0008376Nasal, dysarthic speech1PLP1 CL E G H5354312080Pelizaeus-Merzbacher disease312080C0205711OMIM14519086300401
HP:0001260HP:0002464Spastic dysarthria1PLP1 CL E G H5354312080Pelizaeus-Merzbacher disease312080C0205711OMIM14519086300401
HP:0001260HP:0007024Pseudobulbar paralysis1PLP1 CL E G H5354312920Spastic paraplegia 2312920C1839264OMIM14519086300401
HP:0001260HP:0008376Nasal, dysarthic speech1PLP1 CL E G H5354312920Spastic paraplegia 2312920C1839264OMIM14519086300401
HP:0001260HP:0002464Spastic dysarthria1PLP1 CL E G H5354312920Spastic paraplegia 2312920C1839264OMIM14519086300401
HP:0001260HP:0007024Pseudobulbar paralysis1PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM120518667613036
HP:0001260HP:0008376Nasal, dysarthic speech1PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM120518667613036
HP:0001260HP:0002464Spastic dysarthria1PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM120518667613036
HP:0001260HP:0007024Pseudobulbar paralysis1PNKD CL E G H25953118800Paroxysmal nonkinesigenic dyskinesia 1118800OMIM15219153609023
HP:0001260HP:0008376Nasal, dysarthic speech1PNKD CL E G H25953118800Paroxysmal nonkinesigenic dyskinesia 1118800OMIM15219153609023
HP:0001260HP:0002464Spastic dysarthria1PNKD CL E G H25953118800Paroxysmal nonkinesigenic dyskinesia 1118800OMIM15219153609023
HP:0001260HP:0007024Pseudobulbar paralysis1PNPLA8 CL E G H50640251950Mitochondrial myopathy with lactic acidosis251950C1855033OMIM127128900612123
HP:0001260HP:0008376Nasal, dysarthic speech1PNPLA8 CL E G H50640251950Mitochondrial myopathy with lactic acidosis251950C1855033OMIM127128900612123
HP:0001260HP:0002464Spastic dysarthria1PNPLA8 CL E G H50640251950Mitochondrial myopathy with lactic acidosis251950C1855033OMIM127128900612123
HP:0001260HP:0008376Nasal, dysarthic speech1POLG CL E G H542870595ORPHA123249179174763
HP:0001260HP:0002464Spastic dysarthria1POLG CL E G H542870595ORPHA123249179174763
HP:0001260HP:0007024Pseudobulbar paralysis1POLG CL E G H542870595ORPHA123249179174763
HP:0001260HP:0007024Pseudobulbar paralysis1POLG CL E G H5428157640Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1157640C1834846OMIM123249179174763
HP:0001260HP:0008376Nasal, dysarthic speech1POLG CL E G H5428157640Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1157640C1834846OMIM123249179174763
HP:0001260HP:0002464Spastic dysarthria1POLG CL E G H5428157640Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1157640C1834846OMIM123249179174763
HP:0001260HP:0007024Pseudobulbar paralysis1POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM123249179174763
HP:0001260HP:0008376Nasal, dysarthic speech1POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM123249179174763
HP:0001260HP:0002464Spastic dysarthria1POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM123249179174763
HP:0001260HP:0007024Pseudobulbar paralysis1POLG CL E G H5428607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM123249179174763
HP:0001260HP:0008376Nasal, dysarthic speech1POLG CL E G H5428607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM123249179174763
HP:0001260HP:0002464Spastic dysarthria1POLG CL E G H5428607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM123249179174763
HP:0001260HP:0007024Pseudobulbar paralysis1POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM1102530074614258
HP:0001260HP:0008376Nasal, dysarthic speech1POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM1102530074614258
HP:0001260HP:0002464Spastic dysarthria1POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM1102530074614258
HP:0001260HP:0007024Pseudobulbar paralysis1POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM151030348614366
HP:0001260HP:0008376Nasal, dysarthic speech1POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM151030348614366
HP:0001260HP:0002464Spastic dysarthria1POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM151030348614366
HP:0001260HP:0007024Pseudobulbar paralysis1POLR3B CL E G H55703614381Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism614381C3280644OMIM151030348614366
HP:0001260HP:0008376Nasal, dysarthic speech1POLR3B CL E G H55703614381Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism614381C3280644OMIM151030348614366
HP:0001260HP:0002464Spastic dysarthria1POLR3B CL E G H55703614381Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism614381C3280644OMIM151030348614366
HP:0001260HP:0002464Spastic dysarthria1PPP1R15B CL E G H84919616817Microcephaly, short stature, and impaired glucose metabolism 2616817C4225195OMIM113414951613257
HP:0001260HP:0007024Pseudobulbar paralysis1PPP1R15B CL E G H84919616817Microcephaly, short stature, and impaired glucose metabolism 2616817C4225195OMIM113414951613257
HP:0001260HP:0008376Nasal, dysarthic speech1PPP1R15B CL E G H84919616817Microcephaly, short stature, and impaired glucose metabolism 2616817C4225195OMIM113414951613257
HP:0001260HP:0007024Pseudobulbar paralysis1PPP2R2B CL E G H5521604326Spinocerebellar ataxia 12604326C1858501OMIM1719305604325
HP:0001260HP:0008376Nasal, dysarthic speech1PPP2R2B CL E G H5521604326Spinocerebellar ataxia 12604326C1858501OMIM1719305604325
HP:0001260HP:0002464Spastic dysarthria1PPP2R2B CL E G H5521604326Spinocerebellar ataxia 12604326C1858501OMIM1719305604325
HP:0001260HP:0008376Nasal, dysarthic speech1PRDM8 CL E G H56978324290ORPHA143913993616639
HP:0001260HP:0002464Spastic dysarthria1PRDM8 CL E G H56978324290ORPHA143913993616639
HP:0001260HP:0007024Pseudobulbar paralysis1PRDM8 CL E G H56978324290ORPHA143913993616639
HP:0001260HP:0002464Spastic dysarthria1PRDM8 CL E G H56978616640Epilepsy, progressive myoclonic, 10616640C4225258OMIM143913993616639
HP:0001260HP:0007024Pseudobulbar paralysis1PRDM8 CL E G H56978616640Epilepsy, progressive myoclonic, 10616640C4225258OMIM143913993616639
HP:0001260HP:0008376Nasal, dysarthic speech1PRDM8 CL E G H56978616640Epilepsy, progressive myoclonic, 10616640C4225258OMIM143913993616639
HP:0001260HP:0002464Spastic dysarthria1PRICKLE1 CL E G H144165308ORPHA157017019608500
HP:0001260HP:0007024Pseudobulbar paralysis1PRICKLE1 CL E G H144165308ORPHA157017019608500
HP:0001260HP:0008376Nasal, dysarthic speech1PRICKLE1 CL E G H144165308ORPHA157017019608500
HP:0001260HP:0007024Pseudobulbar paralysis1PRICKLE1 CL E G H144165612437Progressive myoclonus epilepsy with ataxia612437C2676254OMIM157017019608500
HP:0001260HP:0008376Nasal, dysarthic speech1PRICKLE1 CL E G H144165612437Progressive myoclonus epilepsy with ataxia612437C2676254OMIM157017019608500
HP:0001260HP:0002464Spastic dysarthria1PRICKLE1 CL E G H144165612437Progressive myoclonus epilepsy with ataxia612437C2676254OMIM157017019608500
HP:0001260HP:0007024Pseudobulbar paralysis1PRKCG CL E G H5582605361Spinocerebellar ataxia 14605361C1854369OMIM13239402176980
HP:0001260HP:0008376Nasal, dysarthic speech1PRKCG CL E G H5582605361Spinocerebellar ataxia 14605361C1854369OMIM13239402176980
HP:0001260HP:0002464Spastic dysarthria1PRKCG CL E G H5582605361Spinocerebellar ataxia 14605361C1854369OMIM13239402176980
HP:0001260HP:0008376Nasal, dysarthic speech1PRKRA CL E G H8575210571ORPHA11929438603424
HP:0001260HP:0002464Spastic dysarthria1PRKRA CL E G H8575210571ORPHA11929438603424
HP:0001260HP:0007024Pseudobulbar paralysis1PRKRA CL E G H8575210571ORPHA11929438603424
HP:0001260HP:0007024Pseudobulbar paralysis1PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0001260HP:0008376Nasal, dysarthic speech1PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0001260HP:0002464Spastic dysarthria1PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0001260HP:0008376Nasal, dysarthic speech1PRNP CL E G H5621157941ORPHA11919449176640
HP:0001260HP:0002464Spastic dysarthria1PRNP CL E G H5621157941ORPHA11919449176640
HP:0001260HP:0007024Pseudobulbar paralysis1PRNP CL E G H5621157941ORPHA11919449176640
HP:0001260HP:0007024Pseudobulbar paralysis1PRNP CL E G H5621600072Fatal familial insomnia600072C0206042OMIM11919449176640
HP:0001260HP:0008376Nasal, dysarthic speech1PRNP CL E G H5621600072Fatal familial insomnia600072C0206042OMIM11919449176640
HP:0001260HP:0002464Spastic dysarthria1PRNP CL E G H5621600072Fatal familial insomnia600072C0206042OMIM11919449176640
HP:0001260HP:0007024Pseudobulbar paralysis1PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11919449176640
HP:0001260HP:0008376Nasal, dysarthic speech1PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11919449176640
HP:0001260HP:0002464Spastic dysarthria1PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11919449176640
HP:0001260HP:0007024Pseudobulbar paralysis1PRNP CL E G H5621603218Huntington disease-like 1603218C1864112OMIM11919449176640
HP:0001260HP:0008376Nasal, dysarthic speech1PRNP CL E G H5621603218Huntington disease-like 1603218C1864112OMIM11919449176640
HP:0001260HP:0002464Spastic dysarthria1PRNP CL E G H5621603218Huntington disease-like 1603218C1864112OMIM11919449176640
HP:0001260HP:0008376Nasal, dysarthic speech1PSAP CL E G H5660309271ORPHA17729498176801
HP:0001260HP:0008376Nasal, dysarthic speech1PSAP CL E G H5660309256ORPHA17729498176801
HP:0001260HP:0008376Nasal, dysarthic speech1PSAP CL E G H5660309263ORPHA17729498176801
HP:0001260HP:0002464Spastic dysarthria1PSAP CL E G H5660309271ORPHA17729498176801
HP:0001260HP:0002464Spastic dysarthria1PSAP CL E G H5660309256ORPHA17729498176801
HP:0001260HP:0002464Spastic dysarthria1PSAP CL E G H5660309263ORPHA17729498176801
HP:0001260HP:0007024Pseudobulbar paralysis1PSAP CL E G H5660309271ORPHA17729498176801
HP:0001260HP:0007024Pseudobulbar paralysis1PSAP CL E G H5660309256ORPHA17729498176801
HP:0001260HP:0007024Pseudobulbar paralysis1PSAP CL E G H5660309263ORPHA17729498176801
HP:0001260HP:0007024Pseudobulbar paralysis1PSAP CL E G H5660249900Sphingolipid activator protein 1 deficiency249900C0268262OMIM17729498176801
HP:0001260HP:0008376Nasal, dysarthic speech1PSAP CL E G H5660249900Sphingolipid activator protein 1 deficiency249900C0268262OMIM17729498176801
HP:0001260HP:0002464Spastic dysarthria1PSAP CL E G H5660249900Sphingolipid activator protein 1 deficiency249900C0268262OMIM17729498176801
HP:0001260HP:0007024Pseudobulbar paralysis1PSEN1 CL E G H5663607822Alzheimer disease, type 3607822C1843013OMIM15019508104311
HP:0001260HP:0008376Nasal, dysarthic speech1PSEN1 CL E G H5663607822Alzheimer disease, type 3607822C1843013OMIM15019508104311
HP:0001260HP:0002464Spastic dysarthria1PSEN1 CL E G H5663607822Alzheimer disease, type 3607822C1843013OMIM15019508104311
HP:0001260HP:0008376Nasal, dysarthic speech1PTPN11 CL E G H5781648ORPHA18549644176876
HP:0001260HP:0002464Spastic dysarthria1PTPN11 CL E G H5781648ORPHA18549644176876
HP:0001260HP:0007024Pseudobulbar paralysis1PTPN11 CL E G H5781648ORPHA18549644176876
HP:0001260HP:0002464Spastic dysarthria1PUM1 CL E G H9698617931SPINOCEREBELLAR ATAXIA 47617931CN244564OMIM117514957607204
HP:0001260HP:0007024Pseudobulbar paralysis1PUM1 CL E G H9698617931SPINOCEREBELLAR ATAXIA 47617931CN244564OMIM117514957607204
HP:0001260HP:0008376Nasal, dysarthic speech1PUM1 CL E G H9698617931SPINOCEREBELLAR ATAXIA 47617931CN244564OMIM117514957607204
HP:0001260HP:0007024Pseudobulbar paralysis1RAB39B CL E G H116442311510Parkinsonism, early onset with mental retardation311510C0796195OMIM132016499300774
HP:0001260HP:0008376Nasal, dysarthic speech1RAB39B CL E G H116442311510Parkinsonism, early onset with mental retardation311510C0796195OMIM132016499300774
HP:0001260HP:0002464Spastic dysarthria1RAB39B CL E G H116442311510Parkinsonism, early onset with mental retardation311510C0796195OMIM132016499300774
HP:0001260HP:0008376Nasal, dysarthic speech1RAF1 CL E G H5894648ORPHA19909829164760
HP:0001260HP:0002464Spastic dysarthria1RAF1 CL E G H5894648ORPHA19909829164760
HP:0001260HP:0007024Pseudobulbar paralysis1RAF1 CL E G H5894648ORPHA19909829164760
HP:0001260HP:0008376Nasal, dysarthic speech1RAI1 CL E G H107431713ORPHA116089834607642
HP:0001260HP:0002464Spastic dysarthria1RAI1 CL E G H107431713ORPHA116089834607642
HP:0001260HP:0007024Pseudobulbar paralysis1RAI1 CL E G H107431713ORPHA116089834607642
HP:0001260HP:0008376Nasal, dysarthic speech1RANBP2 CL E G H590388619ORPHA113729848601181
HP:0001260HP:0002464Spastic dysarthria1RANBP2 CL E G H590388619ORPHA113729848601181
HP:0001260HP:0007024Pseudobulbar paralysis1RANBP2 CL E G H590388619ORPHA113729848601181
HP:0001260HP:0002464Spastic dysarthria1RARS CL E G H5917616140Leukodystrophy, hypomyelinating, 9616140C4015323OMIM19870107820
HP:0001260HP:0007024Pseudobulbar paralysis1RARS CL E G H5917616140Leukodystrophy, hypomyelinating, 9616140C4015323OMIM19870107820
HP:0001260HP:0008376Nasal, dysarthic speech1RARS CL E G H5917616140Leukodystrophy, hypomyelinating, 9616140C4015323OMIM19870107820
HP:0001260HP:0008376Nasal, dysarthic speech1RASA2 CL E G H5922648ORPHA15339872601589
HP:0001260HP:0002464Spastic dysarthria1RASA2 CL E G H5922648ORPHA15339872601589
HP:0001260HP:0007024Pseudobulbar paralysis1RASA2 CL E G H5922648ORPHA15339872601589
HP:0001260HP:0007024Pseudobulbar paralysis1REEP1 CL E G H65055610250Spastic paraplegia 31, autosomal dominant610250C1853247OMIM143425786609139
HP:0001260HP:0008376Nasal, dysarthic speech1REEP1 CL E G H65055610250Spastic paraplegia 31, autosomal dominant610250C1853247OMIM143425786609139
HP:0001260HP:0002464Spastic dysarthria1REEP1 CL E G H65055610250Spastic paraplegia 31, autosomal dominant610250C1853247OMIM143425786609139
HP:0001260HP:0002464Spastic dysarthria1REPS1 CL E G H85021617916NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7617916CN895590OMIM115615578614825
HP:0001260HP:0007024Pseudobulbar paralysis1REPS1 CL E G H85021617916NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7617916CN895590OMIM115615578614825
HP:0001260HP:0008376Nasal, dysarthic speech1REPS1 CL E G H85021617916NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7617916CN895590OMIM115615578614825
HP:0001260HP:0002464Spastic dysarthria1RERE CL E G H473616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart616975C4310772OMIM16599965605226
HP:0001260HP:0007024Pseudobulbar paralysis1RERE CL E G H473616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart616975C4310772OMIM16599965605226
HP:0001260HP:0008376Nasal, dysarthic speech1RERE CL E G H473616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart616975C4310772OMIM16599965605226
HP:0001260HP:0008376Nasal, dysarthic speech1RIT1 CL E G H6016648ORPHA126910023609591
HP:0001260HP:0002464Spastic dysarthria1RIT1 CL E G H6016648ORPHA126910023609591
HP:0001260HP:0007024Pseudobulbar paralysis1RIT1 CL E G H6016648ORPHA126910023609591
HP:0001260HP:0008376Nasal, dysarthic speech1RNASEH1 CL E G H246243329336ORPHA118918466604123
HP:0001260HP:0002464Spastic dysarthria1RNASEH1 CL E G H246243329336ORPHA118918466604123
HP:0001260HP:0007024Pseudobulbar paralysis1RNASEH1 CL E G H246243329336ORPHA118918466604123
HP:0001260HP:0002464Spastic dysarthria1RNASEH1 CL E G H246243616479Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2616479C4225312OMIM118918466604123
HP:0001260HP:0007024Pseudobulbar paralysis1RNASEH1 CL E G H246243616479Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2616479C4225312OMIM118918466604123
HP:0001260HP:0008376Nasal, dysarthic speech1RNASEH1 CL E G H246243616479Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2616479C4225312OMIM118918466604123
HP:0001260HP:0007024Pseudobulbar paralysis1RNF216 CL E G H54476212840Gordon Holmes syndrome212840C1859305OMIM129721698609948
HP:0001260HP:0008376Nasal, dysarthic speech1RNF216 CL E G H54476212840Gordon Holmes syndrome212840C1859305OMIM129721698609948
HP:0001260HP:0002464Spastic dysarthria1RNF216 CL E G H54476212840Gordon Holmes syndrome212840C1859305OMIM129721698609948
HP:0001260HP:0008376Nasal, dysarthic speech1RNU12 CL E G H267010512260ORPHA117193800
HP:0001260HP:0002464Spastic dysarthria1RNU12 CL E G H267010512260ORPHA117193800
HP:0001260HP:0007024Pseudobulbar paralysis1RNU12 CL E G H267010512260ORPHA117193800
HP:0001260HP:0007024Pseudobulbar paralysis1RPIA CL E G H22934608611Deficiency of ribose-5-phosphate isomerase608611C1291609OMIM111210297180430
HP:0001260HP:0008376Nasal, dysarthic speech1RPIA CL E G H22934608611Deficiency of ribose-5-phosphate isomerase608611C1291609OMIM111210297180430
HP:0001260HP:0002464Spastic dysarthria1RPIA CL E G H22934608611Deficiency of ribose-5-phosphate isomerase608611C1291609OMIM111210297180430
HP:0001260HP:0008376Nasal, dysarthic speech1RRAS CL E G H6237648ORPHA126010447165090
HP:0001260HP:0002464Spastic dysarthria1RRAS CL E G H6237648ORPHA126010447165090
HP:0001260HP:0007024Pseudobulbar paralysis1RRAS CL E G H6237648ORPHA126010447165090
HP:0001260HP:0008376Nasal, dysarthic speech1RRM2B CL E G H50484329336ORPHA135417296604712
HP:0001260HP:0002464Spastic dysarthria1RRM2B CL E G H50484329336ORPHA135417296604712
HP:0001260HP:0007024Pseudobulbar paralysis1RRM2B CL E G H50484329336ORPHA135417296604712
HP:0001260HP:0007024Pseudobulbar paralysis1RRM2B CL E G H50484613077Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5613077C2751319OMIM135417296604712
HP:0001260HP:0008376Nasal, dysarthic speech1RRM2B CL E G H50484613077Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5613077C2751319OMIM135417296604712
HP:0001260HP:0002464Spastic dysarthria1RRM2B CL E G H50484613077Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5613077C2751319OMIM135417296604712
HP:0001260HP:0008376Nasal, dysarthic speech1RUBCN CL E G H9711404499ORPHA116228991613516
HP:0001260HP:0002464Spastic dysarthria1RUBCN CL E G H9711404499ORPHA116228991613516
HP:0001260HP:0007024Pseudobulbar paralysis1RUBCN CL E G H9711404499ORPHA116228991613516
HP:0001260HP:0007024Pseudobulbar paralysis1RUBCN CL E G H9711615705Spinocerebellar ataxia, autosomal recessive 15615705C3810326OMIM116228991613516
HP:0001260HP:0008376Nasal, dysarthic speech1RUBCN CL E G H9711615705Spinocerebellar ataxia, autosomal recessive 15615705C3810326OMIM116228991613516
HP:0001260HP:0002464Spastic dysarthria1RUBCN CL E G H9711615705Spinocerebellar ataxia, autosomal recessive 15615705C3810326OMIM116228991613516
HP:0001260HP:0002464Spastic dysarthria1SACS CL E G H2627898ORPHA1337710519604490
HP:0001260HP:0007024Pseudobulbar paralysis1SACS CL E G H2627898ORPHA1337710519604490
HP:0001260HP:0008376Nasal, dysarthic speech1SACS CL E G H2627898ORPHA1337710519604490
HP:0001260HP:0007024Pseudobulbar paralysis1SACS CL E G H26278270550Spastic ataxia Charlevoix-Saguenay type270550C1849140OMIM1337710519604490
HP:0001260HP:0008376Nasal, dysarthic speech1SACS CL E G H26278270550Spastic ataxia Charlevoix-Saguenay type270550C1849140OMIM1337710519604490
HP:0001260HP:0002464Spastic dysarthria1SACS CL E G H26278270550Spastic ataxia Charlevoix-Saguenay type270550C1849140OMIM1337710519604490
HP:0001260HP:0007024Pseudobulbar paralysis1SAMD9L CL E G H219285159550Myelocerebellar disorder159550C1327919OMIM17131349611170
HP:0001260HP:0008376Nasal, dysarthic speech1SAMD9L CL E G H219285159550Myelocerebellar disorder159550C1327919OMIM17131349611170
HP:0001260HP:0002464Spastic dysarthria1SAMD9L CL E G H219285159550Myelocerebellar disorder159550C1327919OMIM17131349611170
HP:0001260HP:0002464Spastic dysarthria1SCARB2 CL E G H950308ORPHA14741665602257
HP:0001260HP:0007024Pseudobulbar paralysis1SCARB2 CL E G H950308ORPHA14741665602257
HP:0001260HP:0008376Nasal, dysarthic speech1SCARB2 CL E G H950308ORPHA14741665602257
HP:0001260HP:0007024Pseudobulbar paralysis1SCARB2 CL E G H950254900Epilepsy, progressive myoclonic 4, with or without renal failure254900C0751779OMIM14741665602257
HP:0001260HP:0008376Nasal, dysarthic speech1SCARB2 CL E G H950254900Epilepsy, progressive myoclonic 4, with or without renal failure254900C0751779OMIM14741665602257
HP:0001260HP:0002464Spastic dysarthria1SCARB2 CL E G H950254900Epilepsy, progressive myoclonic 4, with or without renal failure254900C0751779OMIM14741665602257
HP:0001260HP:0008376Nasal, dysarthic speech1SCO2 CL E G H9997521411ORPHA170110604604272
HP:0001260HP:0002464Spastic dysarthria1SCO2 CL E G H9997521411ORPHA170110604604272
HP:0001260HP:0007024Pseudobulbar paralysis1SCO2 CL E G H9997521411ORPHA170110604604272
HP:0001260HP:0008376Nasal, dysarthic speech1SDHA CL E G H6389255241ORPHA1250310680600857
HP:0001260HP:0002464Spastic dysarthria1SDHA CL E G H6389255241ORPHA1250310680600857
HP:0001260HP:0007024Pseudobulbar paralysis1SDHA CL E G H6389255241ORPHA1250310680600857
HP:0001260HP:0007024Pseudobulbar paralysis1SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0001260HP:0008376Nasal, dysarthic speech1SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0001260HP:0002464Spastic dysarthria1SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0001260HP:0007024Pseudobulbar paralysis1SERPINI1 CL E G H5274604218Encephalopathy, familial, with neuroserpin inclusion bodies604218C1858680OMIM13108943602445
HP:0001260HP:0008376Nasal, dysarthic speech1SERPINI1 CL E G H5274604218Encephalopathy, familial, with neuroserpin inclusion bodies604218C1858680OMIM13108943602445
HP:0001260HP:0002464Spastic dysarthria1SERPINI1 CL E G H5274604218Encephalopathy, familial, with neuroserpin inclusion bodies604218C1858680OMIM13108943602445
HP:0001260HP:0008376Nasal, dysarthic speech1SIGMAR1 CL E G H10280300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA12478157601978
HP:0001260HP:0002464Spastic dysarthria1SIGMAR1 CL E G H10280300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA12478157601978
HP:0001260HP:0007024Pseudobulbar paralysis1SIGMAR1 CL E G H10280300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA12478157601978
HP:0001260HP:0008376Nasal, dysarthic speech1SIL1 CL E G H64374559ORPHA135224624608005
HP:0001260HP:0002464Spastic dysarthria1SIL1 CL E G H64374559ORPHA135224624608005
HP:0001260HP:0007024Pseudobulbar paralysis1SIL1 CL E G H64374559ORPHA135224624608005
HP:0001260HP:0007024Pseudobulbar paralysis1SIL1 CL E G H64374248800Marinesco-Sjögren syndrome248800C0024814OMIM135224624608005
HP:0001260HP:0008376Nasal, dysarthic speech1SIL1 CL E G H64374248800Marinesco-Sjögren syndrome248800C0024814OMIM135224624608005
HP:0001260HP:0002464Spastic dysarthria1SIL1 CL E G H64374248800Marinesco-Sjögren syndrome248800C0024814OMIM135224624608005
HP:0001260HP:0007024Pseudobulbar paralysis1SLC16A2 CL E G H6567300523Allan-Herndon-Dudley syndrome300523C0795889OMIM142710923300095
HP:0001260HP:0008376Nasal, dysarthic speech1SLC16A2 CL E G H6567300523Allan-Herndon-Dudley syndrome300523C0795889OMIM142710923300095
HP:0001260HP:0002464Spastic dysarthria1SLC16A2 CL E G H6567300523Allan-Herndon-Dudley syndrome300523C0795889OMIM142710923300095
HP:0001260HP:0007024Pseudobulbar paralysis1SLC17A5 CL E G H26503604369Salla disease604369C1096903OMIM152010933604322
HP:0001260HP:0008376Nasal, dysarthic speech1SLC17A5 CL E G H26503604369Salla disease604369C1096903OMIM152010933604322
HP:0001260HP:0002464Spastic dysarthria1SLC17A5 CL E G H26503604369Salla disease604369C1096903OMIM152010933604322
HP:0001260HP:0008376Nasal, dysarthic speech1SLC18A2 CL E G H6571352649ORPHA118310935193001
HP:0001260HP:0002464Spastic dysarthria1SLC18A2 CL E G H6571352649ORPHA118310935193001
HP:0001260HP:0007024Pseudobulbar paralysis1SLC18A2 CL E G H6571352649ORPHA118310935193001
HP:0001260HP:0002464Spastic dysarthria1SLC18A2 CL E G H6571618049PARKINSONISM-DYSTONIA, INFANTILE, 2618049CN248785OMIM118310935193001
HP:0001260HP:0007024Pseudobulbar paralysis1SLC18A2 CL E G H6571618049PARKINSONISM-DYSTONIA, INFANTILE, 2618049CN248785OMIM118310935193001
HP:0001260HP:0008376Nasal, dysarthic speech1SLC18A2 CL E G H6571618049PARKINSONISM-DYSTONIA, INFANTILE, 2618049CN248785OMIM118310935193001
HP:0001260HP:0008376Nasal, dysarthic speech1SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0001260HP:0002464Spastic dysarthria1SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0001260HP:0007024Pseudobulbar paralysis1SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0001260HP:0007024Pseudobulbar paralysis1SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0001260HP:0008376Nasal, dysarthic speech1SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0001260HP:0002464Spastic dysarthria1SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0001260HP:0007024Pseudobulbar paralysis1SLC1A3 CL E G H6507612656Episodic ataxia, type 6612656C2675211OMIM126610941600111
HP:0001260HP:0008376Nasal, dysarthic speech1SLC1A3 CL E G H6507612656Episodic ataxia, type 6612656C2675211OMIM126610941600111
HP:0001260HP:0002464Spastic dysarthria1SLC1A3 CL E G H6507612656Episodic ataxia, type 6612656C2675211OMIM126610941600111
HP:0001260HP:0007024Pseudobulbar paralysis1SLC20A2 CL E G H6575213600Idiopathic basal ganglia calcification 1213600C0393590OMIM133710947158378
HP:0001260HP:0008376Nasal, dysarthic speech1SLC20A2 CL E G H6575213600Idiopathic basal ganglia calcification 1213600C0393590OMIM133710947158378
HP:0001260HP:0002464Spastic dysarthria1SLC20A2 CL E G H6575213600Idiopathic basal ganglia calcification 1213600C0393590OMIM133710947158378
HP:0001260HP:0008376Nasal, dysarthic speech1SLC2A1 CL E G H651353583ORPHA196511005138140
HP:0001260HP:0008376Nasal, dysarthic speech1SLC2A1 CL E G H651371277ORPHA196511005138140
HP:0001260HP:0002464Spastic dysarthria1SLC2A1 CL E G H651353583ORPHA196511005138140
HP:0001260HP:0002464Spastic dysarthria1SLC2A1 CL E G H651371277ORPHA196511005138140
HP:0001260HP:0007024Pseudobulbar paralysis1SLC2A1 CL E G H651353583ORPHA196511005138140
HP:0001260HP:0007024Pseudobulbar paralysis1SLC2A1 CL E G H651371277ORPHA196511005138140
HP:0001260HP:0007024Pseudobulbar paralysis1SLC2A1 CL E G H6513601042Dystonia 9601042C1832855OMIM196511005138140
HP:0001260HP:0008376Nasal, dysarthic speech1SLC2A1 CL E G H6513601042Dystonia 9601042C1832855OMIM196511005138140
HP:0001260HP:0002464Spastic dysarthria1SLC2A1 CL E G H6513601042Dystonia 9601042C1832855OMIM196511005138140
HP:0001260HP:0007024Pseudobulbar paralysis1SLC2A1 CL E G H6513606777GLUT1 deficiency syndrome 1606777CN030711OMIM196511005138140
HP:0001260HP:0008376Nasal, dysarthic speech1SLC2A1 CL E G H6513606777GLUT1 deficiency syndrome 1606777CN030711OMIM196511005138140
HP:0001260HP:0002464Spastic dysarthria1SLC2A1 CL E G H6513606777GLUT1 deficiency syndrome 1606777CN030711OMIM196511005138140
HP:0001260HP:0008376Nasal, dysarthic speech1SLC30A10 CL E G H55532309854ORPHA127525355611146
HP:0001260HP:0002464Spastic dysarthria1SLC30A10 CL E G H55532309854ORPHA127525355611146
HP:0001260HP:0007024Pseudobulbar paralysis1SLC30A10 CL E G H55532309854ORPHA127525355611146
HP:0001260HP:0007024Pseudobulbar paralysis1SLC30A10 CL E G H55532613280Hypermanganesemia with dystonia 1613280OMIM127525355611146
HP:0001260HP:0008376Nasal, dysarthic speech1SLC30A10 CL E G H55532613280Hypermanganesemia with dystonia 1613280OMIM127525355611146
HP:0001260HP:0002464Spastic dysarthria1SLC30A10 CL E G H55532613280Hypermanganesemia with dystonia 1613280OMIM127525355611146
HP:0001260HP:0007024Pseudobulbar paralysis1SLC35A1 CL E G H10559603585Congenital disorder of glycosylation type 2F603585C1970344OMIM112511021605634
HP:0001260HP:0008376Nasal, dysarthic speech1SLC35A1 CL E G H10559603585Congenital disorder of glycosylation type 2F603585C1970344OMIM112511021605634
HP:0001260HP:0002464Spastic dysarthria1SLC35A1 CL E G H10559603585Congenital disorder of glycosylation type 2F603585C1970344OMIM112511021605634
HP:0001260HP:0008376Nasal, dysarthic speech1SLC52A2 CL E G H7958197229ORPHA152030224607882
HP:0001260HP:0002464Spastic dysarthria1SLC52A2 CL E G H7958197229ORPHA152030224607882
HP:0001260HP:0007024Pseudobulbar paralysis1SLC52A2 CL E G H7958197229ORPHA152030224607882
HP:0001260HP:0008376Nasal, dysarthic speech1SLC52A3 CL E G H11327897229ORPHA146416187613350
HP:0001260HP:0002464Spastic dysarthria1SLC52A3 CL E G H11327897229ORPHA146416187613350
HP:0001260HP:0007024Pseudobulbar paralysis1SLC52A3 CL E G H11327897229ORPHA146416187613350
HP:0001260HP:0008376Nasal, dysarthic speech1SLC6A1 CL E G H65291942ORPHA180911042137165
HP:0001260HP:0002464Spastic dysarthria1SLC6A1 CL E G H65291942ORPHA180911042137165
HP:0001260HP:0007024Pseudobulbar paralysis1SLC6A1 CL E G H65291942ORPHA180911042137165
HP:0001260HP:0002464Spastic dysarthria1SLC9A1 CL E G H6548616291Lichtenstein-knorr syndrome616291C4225383OMIM116211071107310
HP:0001260HP:0007024Pseudobulbar paralysis1SLC9A1 CL E G H6548616291Lichtenstein-knorr syndrome616291C4225383OMIM116211071107310
HP:0001260HP:0008376Nasal, dysarthic speech1SLC9A1 CL E G H6548616291Lichtenstein-knorr syndrome616291C4225383OMIM116211071107310
HP:0001260HP:0007024Pseudobulbar paralysis1SMS CL E G H6611309583Snyder Robinson syndrome309583C0796160OMIM129411123300105
HP:0001260HP:0008376Nasal, dysarthic speech1SMS CL E G H6611309583Snyder Robinson syndrome309583C0796160OMIM129411123300105
HP:0001260HP:0002464Spastic dysarthria1SMS CL E G H6611309583Snyder Robinson syndrome309583C0796160OMIM129411123300105
HP:0001260HP:0002464Spastic dysarthria1SNAP25 CL E G H6616616330Myasthenic syndrome, congenital, 18616330C4225364OMIM121811132600322
HP:0001260HP:0007024Pseudobulbar paralysis1SNAP25 CL E G H6616616330Myasthenic syndrome, congenital, 18616330C4225364OMIM121811132600322
HP:0001260HP:0008376Nasal, dysarthic speech1SNAP25 CL E G H6616616330Myasthenic syndrome, congenital, 18616330C4225364OMIM121811132600322
HP:0001260HP:0007024Pseudobulbar paralysis1SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM119311138163890
HP:0001260HP:0008376Nasal, dysarthic speech1SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM119311138163890
HP:0001260HP:0002464Spastic dysarthria1SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM119311138163890
HP:0001260HP:0007024Pseudobulbar paralysis1SNCAIP CL E G H9627168600Parkinson disease, late-onset168600C3160718OMIM116011139603779
HP:0001260HP:0008376Nasal, dysarthic speech1SNCAIP CL E G H9627168600Parkinson disease, late-onset168600C3160718OMIM116011139603779
HP:0001260HP:0002464Spastic dysarthria1SNCAIP CL E G H9627168600Parkinson disease, late-onset168600C3160718OMIM116011139603779
HP:0001260HP:0007024Pseudobulbar paralysis1SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM118932952616663
HP:0001260HP:0008376Nasal, dysarthic speech1SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM118932952616663
HP:0001260HP:0002464Spastic dysarthria1SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM118932952616663
HP:0001260HP:0008376Nasal, dysarthic speech1SOS1 CL E G H6654648ORPHA1150311187182530
HP:0001260HP:0002464Spastic dysarthria1SOS1 CL E G H6654648ORPHA1150311187182530
HP:0001260HP:0007024Pseudobulbar paralysis1SOS1 CL E G H6654648ORPHA1150311187182530
HP:0001260HP:0008376Nasal, dysarthic speech1SOS2 CL E G H6655648ORPHA1125011188601247
HP:0001260HP:0002464Spastic dysarthria1SOS2 CL E G H6655648ORPHA1125011188601247
HP:0001260HP:0007024Pseudobulbar paralysis1SOS2 CL E G H6655648ORPHA1125011188601247
HP:0001260HP:0007024Pseudobulbar paralysis1SPART CL E G H23111275900Troyer syndrome275900C0393559OMIM135318514607111
HP:0001260HP:0008376Nasal, dysarthic speech1SPART CL E G H23111275900Troyer syndrome275900C0393559OMIM135318514607111
HP:0001260HP:0002464Spastic dysarthria1SPART CL E G H23111275900Troyer syndrome275900C0393559OMIM135318514607111
HP:0001260HP:0007024Pseudobulbar paralysis1SPG11 CL E G H80208602099Amyotrophic lateral sclerosis type 5602099C1865864OMIM1262511226610844
HP:0001260HP:0008376Nasal, dysarthic speech1SPG11 CL E G H80208602099Amyotrophic lateral sclerosis type 5602099C1865864OMIM1262511226610844
HP:0001260HP:0002464Spastic dysarthria1SPG11 CL E G H80208602099Amyotrophic lateral sclerosis type 5602099C1865864OMIM1262511226610844
HP:0001260HP:0008376Nasal, dysarthic speech1SPG11 CL E G H802082822Hyperinsulinism, focalORPHA1262511226610844
HP:0001260HP:0002464Spastic dysarthria1SPG11 CL E G H802082822Hyperinsulinism, focalORPHA1262511226610844
HP:0001260HP:0007024Pseudobulbar paralysis1SPG11 CL E G H802082822Hyperinsulinism, focalORPHA1262511226610844
HP:0001260HP:0008376Nasal, dysarthic speech1SPG11 CL E G H80208300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1262511226610844
HP:0001260HP:0002464Spastic dysarthria1SPG11 CL E G H80208300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1262511226610844
HP:0001260HP:0007024Pseudobulbar paralysis1SPG11 CL E G H80208300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1262511226610844
HP:0001260HP:0007024Pseudobulbar paralysis1SPG11 CL E G H80208604360Spastic paraplegia 11, autosomal recessive604360C1858479OMIM1262511226610844
HP:0001260HP:0008376Nasal, dysarthic speech1SPG11 CL E G H80208604360Spastic paraplegia 11, autosomal recessive604360C1858479OMIM1262511226610844
HP:0001260HP:0002464Spastic dysarthria1SPG11 CL E G H80208604360Spastic paraplegia 11, autosomal recessive604360C1858479OMIM1262511226610844
HP:0001260HP:0007024Pseudobulbar paralysis1SPG7 CL E G H6687607259Spastic paraplegia 7607259C1846564OMIM196611237602783
HP:0001260HP:0008376Nasal, dysarthic speech1SPG7 CL E G H6687607259Spastic paraplegia 7607259C1846564OMIM196611237602783
HP:0001260HP:0002464Spastic dysarthria1SPG7 CL E G H6687607259Spastic paraplegia 7607259C1846564OMIM196611237602783
HP:0001260HP:0007024Pseudobulbar paralysis1SPR CL E G H6697612716Sepiapterin reductase deficiency612716C0268468OMIM119811257182125
HP:0001260HP:0008376Nasal, dysarthic speech1SPR CL E G H6697612716Sepiapterin reductase deficiency612716C0268468OMIM119811257182125
HP:0001260HP:0002464Spastic dysarthria1SPR CL E G H6697612716Sepiapterin reductase deficiency612716C0268468OMIM119811257182125
HP:0001260HP:0008376Nasal, dysarthic speech1SPTBN2 CL E G H6712352403ORPHA193811276604985
HP:0001260HP:0002464Spastic dysarthria1SPTBN2 CL E G H6712352403ORPHA193811276604985
HP:0001260HP:0007024Pseudobulbar paralysis1SPTBN2 CL E G H6712352403ORPHA193811276604985
HP:0001260HP:0007024Pseudobulbar paralysis1SPTBN2 CL E G H6712600224Spinocerebellar ataxia 5600224C0752123OMIM193811276604985
HP:0001260HP:0008376Nasal, dysarthic speech1SPTBN2 CL E G H6712600224Spinocerebellar ataxia 5600224C0752123OMIM193811276604985
HP:0001260HP:0002464Spastic dysarthria1SPTBN2 CL E G H6712600224Spinocerebellar ataxia 5600224C0752123OMIM193811276604985
HP:0001260HP:0008376Nasal, dysarthic speech1SQSTM1 CL E G H8878275872ORPHA167711280601530
HP:0001260HP:0002464Spastic dysarthria1SQSTM1 CL E G H8878275872ORPHA167711280601530
HP:0001260HP:0007024Pseudobulbar paralysis1SQSTM1 CL E G H8878275872ORPHA167711280601530
HP:0001260HP:0002464Spastic dysarthria1SQSTM1 CL E G H8878616437Frontotemporal dementia and/or amyotrophic lateral sclerosis 3616437C4225326OMIM167711280601530
HP:0001260HP:0007024Pseudobulbar paralysis1SQSTM1 CL E G H8878616437Frontotemporal dementia and/or amyotrophic lateral sclerosis 3616437C4225326OMIM167711280601530
HP:0001260HP:0008376Nasal, dysarthic speech1SQSTM1 CL E G H8878616437Frontotemporal dementia and/or amyotrophic lateral sclerosis 3616437C4225326OMIM167711280601530
HP:0001260HP:0002464Spastic dysarthria1SQSTM1 CL E G H8878617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset617145C4310693OMIM167711280601530
HP:0001260HP:0007024Pseudobulbar paralysis1SQSTM1 CL E G H8878617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset617145C4310693OMIM167711280601530
HP:0001260HP:0008376Nasal, dysarthic speech1SQSTM1 CL E G H8878617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset617145C4310693OMIM167711280601530
HP:0001260HP:0008376Nasal, dysarthic speech1STUB1 CL E G H10273412057ORPHA122611427607207
HP:0001260HP:0002464Spastic dysarthria1STUB1 CL E G H10273412057ORPHA122611427607207
HP:0001260HP:0007024Pseudobulbar paralysis1STUB1 CL E G H10273412057ORPHA122611427607207
HP:0001260HP:0002464Spastic dysarthria1STUB1 CL E G H10273618093SPINOCEREBELLAR ATAXIA 48618093OMIM122611427607207
HP:0001260HP:0007024Pseudobulbar paralysis1STUB1 CL E G H10273618093SPINOCEREBELLAR ATAXIA 48618093OMIM122611427607207
HP:0001260HP:0008376Nasal, dysarthic speech1STUB1 CL E G H10273618093SPINOCEREBELLAR ATAXIA 48618093OMIM122611427607207
HP:0001260HP:0007024Pseudobulbar paralysis1STUB1 CL E G H10273615768Spinocerebellar ataxia, autosomal recessive 16615768C4014261OMIM122611427607207
HP:0001260HP:0008376Nasal, dysarthic speech1STUB1 CL E G H10273615768Spinocerebellar ataxia, autosomal recessive 16615768C4014261OMIM122611427607207
HP:0001260HP:0002464Spastic dysarthria1STUB1 CL E G H10273615768Spinocerebellar ataxia, autosomal recessive 16615768C4014261OMIM122611427607207
HP:0001260HP:0002464Spastic dysarthria1SUFU CL E G H51684617757JOUBERT SYNDROME 32617757C4540342OMIM1130616466607035
HP:0001260HP:0007024Pseudobulbar paralysis1SUFU CL E G H51684617757JOUBERT SYNDROME 32617757C4540342OMIM1130616466607035
HP:0001260HP:0008376Nasal, dysarthic speech1SUFU CL E G H51684617757JOUBERT SYNDROME 32617757C4540342OMIM1130616466607035
HP:0001260HP:0008376Nasal, dysarthic speech1SURF1 CL E G H6834255241ORPHA153211474185620
HP:0001260HP:0002464Spastic dysarthria1SURF1 CL E G H6834255241ORPHA153211474185620
HP:0001260HP:0007024Pseudobulbar paralysis1SURF1 CL E G H6834255241ORPHA153211474185620
HP:0001260HP:0007024Pseudobulbar paralysis1SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0001260HP:0008376Nasal, dysarthic speech1SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0001260HP:0002464Spastic dysarthria1SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0001260HP:0007024Pseudobulbar paralysis1SYNE1 CL E G H23345610743Spinocerebellar ataxia, autosomal recessive 8610743C1853116OMIM1578917089608441
HP:0001260HP:0008376Nasal, dysarthic speech1SYNE1 CL E G H23345610743Spinocerebellar ataxia, autosomal recessive 8610743C1853116OMIM1578917089608441
HP:0001260HP:0002464Spastic dysarthria1SYNE1 CL E G H23345610743Spinocerebellar ataxia, autosomal recessive 8610743C1853116OMIM1578917089608441
HP:0001260HP:0007024Pseudobulbar paralysis1SYNJ1 CL E G H8867615530Parkinson disease 20, early-onset615530C3809824OMIM1131511503604297
HP:0001260HP:0008376Nasal, dysarthic speech1SYNJ1 CL E G H8867615530Parkinson disease 20, early-onset615530C3809824OMIM1131511503604297
HP:0001260HP:0002464Spastic dysarthria1SYNJ1 CL E G H8867615530Parkinson disease 20, early-onset615530C3809824OMIM1131511503604297
HP:0001260HP:0008376Nasal, dysarthic speech1SYT14 CL E G H255928284271ORPHA110423143610949
HP:0001260HP:0002464Spastic dysarthria1SYT14 CL E G H255928284271ORPHA110423143610949
HP:0001260HP:0007024Pseudobulbar paralysis1SYT14 CL E G H255928284271ORPHA110423143610949
HP:0001260HP:0007024Pseudobulbar paralysis1SYT14 CL E G H255928614229Spinocerebellar ataxia, autosomal recessive 11614229C3280226OMIM110423143610949
HP:0001260HP:0008376Nasal, dysarthic speech1SYT14 CL E G H255928614229Spinocerebellar ataxia, autosomal recessive 11614229C3280226OMIM110423143610949
HP:0001260HP:0002464Spastic dysarthria1SYT14 CL E G H255928614229Spinocerebellar ataxia, autosomal recessive 11614229C3280226OMIM110423143610949
HP:0001260HP:0008376Nasal, dysarthic speech1TACO1 CL E G H51204255241ORPHA111724316612958
HP:0001260HP:0002464Spastic dysarthria1TACO1 CL E G H51204255241ORPHA111724316612958
HP:0001260HP:0007024Pseudobulbar paralysis1TACO1 CL E G H51204255241ORPHA111724316612958
HP:0001260HP:0002464Spastic dysarthria1TANGO2 CL E G H128989616878TANGO2-Related Metabolic Encephalopathy and Arrhythmias616878C4225171OMIM171525439616830
HP:0001260HP:0007024Pseudobulbar paralysis1TANGO2 CL E G H128989616878TANGO2-Related Metabolic Encephalopathy and Arrhythmias616878C4225171OMIM171525439616830
HP:0001260HP:0008376Nasal, dysarthic speech1TANGO2 CL E G H128989616878TANGO2-Related Metabolic Encephalopathy and Arrhythmias616878C4225171OMIM171525439616830
HP:0001260HP:0008376Nasal, dysarthic speech1TARDBP CL E G H23435275872ORPHA130911571605078
HP:0001260HP:0002464Spastic dysarthria1TARDBP CL E G H23435275872ORPHA130911571605078
HP:0001260HP:0007024Pseudobulbar paralysis1TARDBP CL E G H23435275872ORPHA130911571605078
HP:0001260HP:0007024Pseudobulbar paralysis1TARDBP CL E G H23435612069Amyotrophic lateral sclerosis type 10612069C2677565OMIM130911571605078
HP:0001260HP:0008376Nasal, dysarthic speech1TARDBP CL E G H23435612069Amyotrophic lateral sclerosis type 10612069C2677565OMIM130911571605078
HP:0001260HP:0002464Spastic dysarthria1TARDBP CL E G H23435612069Amyotrophic lateral sclerosis type 10612069C2677565OMIM130911571605078
HP:0001260HP:0002464Spastic dysarthria1TBC1D23 CL E G H55773617695PONTOCEREBELLAR HYPOPLASIA, TYPE 11617695C4540164OMIM19025622617687
HP:0001260HP:0007024Pseudobulbar paralysis1TBC1D23 CL E G H55773617695PONTOCEREBELLAR HYPOPLASIA, TYPE 11617695C4540164OMIM19025622617687
HP:0001260HP:0008376Nasal, dysarthic speech1TBC1D23 CL E G H55773617695PONTOCEREBELLAR HYPOPLASIA, TYPE 11617695C4540164OMIM19025622617687
HP:0001260HP:0007024Pseudobulbar paralysis1TBC1D24 CL E G H57465605021Myoclonic epilepsy, familial infantile605021C0917800OMIM189329203613577
HP:0001260HP:0008376Nasal, dysarthic speech1TBC1D24 CL E G H57465605021Myoclonic epilepsy, familial infantile605021C0917800OMIM189329203613577
HP:0001260HP:0002464Spastic dysarthria1TBC1D24 CL E G H57465605021Myoclonic epilepsy, familial infantile605021C0917800OMIM189329203613577
HP:0001260HP:0008376Nasal, dysarthic speech1TBCE CL E G H6905496756ORPHA145611582604934
HP:0001260HP:0002464Spastic dysarthria1TBCE CL E G H6905496756ORPHA145611582604934
HP:0001260HP:0007024Pseudobulbar paralysis1TBCE CL E G H6905496756ORPHA145611582604934
HP:0001260HP:0002464Spastic dysarthria1TBCE CL E G H6905617207Encephalopathy, progressive, with amyotrophy and optic atrophy617207C4310667OMIM145611582604934
HP:0001260HP:0007024Pseudobulbar paralysis1TBCE CL E G H6905617207Encephalopathy, progressive, with amyotrophy and optic atrophy617207C4310667OMIM145611582604934
HP:0001260HP:0008376Nasal, dysarthic speech1TBCE CL E G H6905617207Encephalopathy, progressive, with amyotrophy and optic atrophy617207C4310667OMIM145611582604934
HP:0001260HP:0008376Nasal, dysarthic speech1TBK1 CL E G H29110275872ORPHA138211584604834
HP:0001260HP:0002464Spastic dysarthria1TBK1 CL E G H29110275872ORPHA138211584604834
HP:0001260HP:0007024Pseudobulbar paralysis1TBK1 CL E G H29110275872ORPHA138211584604834
HP:0001260HP:0002464Spastic dysarthria1TBK1 CL E G H29110616439Frontotemporal dementia and/or amyotrophic lateral sclerosis 4616439C4225325OMIM138211584604834
HP:0001260HP:0007024Pseudobulbar paralysis1TBK1 CL E G H29110616439Frontotemporal dementia and/or amyotrophic lateral sclerosis 4616439C4225325OMIM138211584604834
HP:0001260HP:0008376Nasal, dysarthic speech1TBK1 CL E G H29110616439Frontotemporal dementia and/or amyotrophic lateral sclerosis 4616439C4225325OMIM138211584604834
HP:0001260HP:0007024Pseudobulbar paralysis1TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM113111588600075
HP:0001260HP:0008376Nasal, dysarthic speech1TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM113111588600075
HP:0001260HP:0002464Spastic dysarthria1TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM113111588600075
HP:0001260HP:0008376Nasal, dysarthic speech1TECPR2 CL E G H9895320385ORPHA1113719957615000
HP:0001260HP:0002464Spastic dysarthria1TECPR2 CL E G H9895320385ORPHA1113719957615000
HP:0001260HP:0007024Pseudobulbar paralysis1TECPR2 CL E G H9895320385ORPHA1113719957615000
HP:0001260HP:0007024Pseudobulbar paralysis1TECPR2 CL E G H9895615031Spastic paraplegia 49, autosomal recessive615031C3542549OMIM1113719957615000
HP:0001260HP:0008376Nasal, dysarthic speech1TECPR2 CL E G H9895615031Spastic paraplegia 49, autosomal recessive615031C3542549OMIM1113719957615000
HP:0001260HP:0002464Spastic dysarthria1TECPR2 CL E G H9895615031Spastic paraplegia 49, autosomal recessive615031C3542549OMIM1113719957615000
HP:0001260HP:0007024Pseudobulbar paralysis1TGM6 CL E G H343641613908Spinocerebellar ataxia 35613908C3888031OMIM139316255613900
HP:0001260HP:0008376Nasal, dysarthic speech1TGM6 CL E G H343641613908Spinocerebellar ataxia 35613908C3888031OMIM139316255613900
HP:0001260HP:0002464Spastic dysarthria1TGM6 CL E G H343641613908Spinocerebellar ataxia 35613908C3888031OMIM139316255613900
HP:0001260HP:0008376Nasal, dysarthic speech1THAP1 CL E G H5514598806ORPHA120620856609520
HP:0001260HP:0002464Spastic dysarthria1THAP1 CL E G H5514598806ORPHA120620856609520
HP:0001260HP:0007024Pseudobulbar paralysis1THAP1 CL E G H5514598806ORPHA120620856609520
HP:0001260HP:0007024Pseudobulbar paralysis1THAP1 CL E G H55145602629Dystonia 6, torsion602629C1414216OMIM120620856609520
HP:0001260HP:0008376Nasal, dysarthic speech1THAP1 CL E G H55145602629Dystonia 6, torsion602629C1414216OMIM120620856609520
HP:0001260HP:0002464Spastic dysarthria1THAP1 CL E G H55145602629Dystonia 6, torsion602629C1414216OMIM120620856609520
HP:0001260HP:0007024Pseudobulbar paralysis1TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0001260HP:0008376Nasal, dysarthic speech1TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0001260HP:0002464Spastic dysarthria1TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0001260HP:0002464Spastic dysarthria1TK2 CL E G H7084617069Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3617069C4310734OMIM144211831188250
HP:0001260HP:0007024Pseudobulbar paralysis1TK2 CL E G H7084617069Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3617069C4310734OMIM144211831188250
HP:0001260HP:0008376Nasal, dysarthic speech1TK2 CL E G H7084617069Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3617069C4310734OMIM144211831188250
HP:0001260HP:0002464Spastic dysarthria1TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0001260HP:0007024Pseudobulbar paralysis1TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0001260HP:0008376Nasal, dysarthic speech1TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0001260HP:0008376Nasal, dysarthic speech1TMEM240 CL E G H33945398773ORPHA123725186616101
HP:0001260HP:0002464Spastic dysarthria1TMEM240 CL E G H33945398773ORPHA123725186616101
HP:0001260HP:0007024Pseudobulbar paralysis1TMEM240 CL E G H33945398773ORPHA123725186616101
HP:0001260HP:0007024Pseudobulbar paralysis1TMEM240 CL E G H339453607454Spinocerebellar ataxia 21607454C1843891OMIM123725186616101
HP:0001260HP:0008376Nasal, dysarthic speech1TMEM240 CL E G H339453607454Spinocerebellar ataxia 21607454C1843891OMIM123725186616101
HP:0001260HP:0002464Spastic dysarthria1TMEM240 CL E G H339453607454Spinocerebellar ataxia 21607454C1843891OMIM123725186616101
HP:0001260HP:0002464Spastic dysarthria1TOP3A CL E G H7156618098PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5618098CN253818OMIM139011992601243
HP:0001260HP:0007024Pseudobulbar paralysis1TOP3A CL E G H7156618098PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5618098CN253818OMIM139011992601243
HP:0001260HP:0008376Nasal, dysarthic speech1TOP3A CL E G H7156618098PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5618098CN253818OMIM139011992601243
HP:0001260HP:0007024Pseudobulbar paralysis1TOR1A CL E G H1861128100Dystonia 1128100C1851945OMIM12203098605204
HP:0001260HP:0008376Nasal, dysarthic speech1TOR1A CL E G H1861128100Dystonia 1128100C1851945OMIM12203098605204
HP:0001260HP:0002464Spastic dysarthria1TOR1A CL E G H1861128100Dystonia 1128100C1851945OMIM12203098605204
HP:0001260HP:0008376Nasal, dysarthic speech1TPP1 CL E G H1200284324ORPHA110232073607998
HP:0001260HP:0002464Spastic dysarthria1TPP1 CL E G H1200284324ORPHA110232073607998
HP:0001260HP:0007024Pseudobulbar paralysis1TPP1 CL E G H1200284324ORPHA110232073607998
HP:0001260HP:0007024Pseudobulbar paralysis1TPP1 CL E G H1200609270Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia609270C1836474OMIM110232073607998
HP:0001260HP:0008376Nasal, dysarthic speech1TPP1 CL E G H1200609270Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia609270C1836474OMIM110232073607998
HP:0001260HP:0002464Spastic dysarthria1TPP1 CL E G H1200609270Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia609270C1836474OMIM110232073607998
HP:0001260HP:0007024Pseudobulbar paralysis1TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM198325751614138
HP:0001260HP:0008376Nasal, dysarthic speech1TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM198325751614138
HP:0001260HP:0002464Spastic dysarthria1TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM198325751614138
HP:0001260HP:0008376Nasal, dysarthic speech1TREX1 CL E G H11277247691ORPHA141812269606609
HP:0001260HP:0002464Spastic dysarthria1TREX1 CL E G H11277247691ORPHA141812269606609
HP:0001260HP:0007024Pseudobulbar paralysis1TREX1 CL E G H11277247691ORPHA141812269606609
HP:0001260HP:0007024Pseudobulbar paralysis1TREX1 CL E G H11277192315Vasculopathy, retinal, with cerebral leukodystrophy192315C1860518OMIM141812269606609
HP:0001260HP:0008376Nasal, dysarthic speech1TREX1 CL E G H11277192315Vasculopathy, retinal, with cerebral leukodystrophy192315C1860518OMIM141812269606609
HP:0001260HP:0002464Spastic dysarthria1TREX1 CL E G H11277192315Vasculopathy, retinal, with cerebral leukodystrophy192315C1860518OMIM141812269606609
HP:0001260HP:0007024Pseudobulbar paralysis1TRIM37 CL E G H4591253250Mulibrey nanism syndrome253250C0524582OMIM13747523605073
HP:0001260HP:0008376Nasal, dysarthic speech1TRIM37 CL E G H4591253250Mulibrey nanism syndrome253250C0524582OMIM13747523605073
HP:0001260HP:0002464Spastic dysarthria1TRIM37 CL E G H4591253250Mulibrey nanism syndrome253250C0524582OMIM13747523605073
HP:0001260HP:0008376Nasal, dysarthic speech1TTBK2 CL E G H14605798767ORPHA133819141611695
HP:0001260HP:0002464Spastic dysarthria1TTBK2 CL E G H14605798767ORPHA133819141611695
HP:0001260HP:0007024Pseudobulbar paralysis1TTBK2 CL E G H14605798767ORPHA133819141611695
HP:0001260HP:0007024Pseudobulbar paralysis1TTBK2 CL E G H146057604432Spinocerebellar ataxia 11604432C1858351OMIM133819141611695
HP:0001260HP:0008376Nasal, dysarthic speech1TTBK2 CL E G H146057604432Spinocerebellar ataxia 11604432C1858351OMIM133819141611695
HP:0001260HP:0002464Spastic dysarthria1TTBK2 CL E G H146057604432Spinocerebellar ataxia 11604432C1858351OMIM133819141611695
HP:0001260HP:0007024Pseudobulbar paralysis1TTC19 CL E G H54902615157Mitochondrial complex III deficiency, nuclear type 2615157C3554605OMIM134326006613814
HP:0001260HP:0008376Nasal, dysarthic speech1TTC19 CL E G H54902615157Mitochondrial complex III deficiency, nuclear type 2615157C3554605OMIM134326006613814
HP:0001260HP:0002464Spastic dysarthria1TTC19 CL E G H54902615157Mitochondrial complex III deficiency, nuclear type 2615157C3554605OMIM134326006613814
HP:0001260HP:0002464Spastic dysarthria1TTPA CL E G H727496ORPHA138912404600415
HP:0001260HP:0007024Pseudobulbar paralysis1TTPA CL E G H727496ORPHA138912404600415
HP:0001260HP:0008376Nasal, dysarthic speech1TTPA CL E G H727496ORPHA138912404600415
HP:0001260HP:0007024Pseudobulbar paralysis1TTR CL E G H7276105210Amyloidogenic transthyretin amyloidosis105210C2751492OMIM137712405176300
HP:0001260HP:0008376Nasal, dysarthic speech1TTR CL E G H7276105210Amyloidogenic transthyretin amyloidosis105210C2751492OMIM137712405176300
HP:0001260HP:0002464Spastic dysarthria1TTR CL E G H7276105210Amyloidogenic transthyretin amyloidosis105210C2751492OMIM137712405176300
HP:0001260HP:0007024Pseudobulbar paralysis1TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM127220774602662
HP:0001260HP:0008376Nasal, dysarthic speech1TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM127220774602662
HP:0001260HP:0002464Spastic dysarthria1TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM127220774602662
HP:0001260HP:0008376Nasal, dysarthic speech1TWNK CL E G H5665270595ORPHA14501160606075
HP:0001260HP:0002464Spastic dysarthria1TWNK CL E G H5665270595ORPHA14501160606075
HP:0001260HP:0007024Pseudobulbar paralysis1TWNK CL E G H5665270595ORPHA14501160606075
HP:0001260HP:0007024Pseudobulbar paralysis1TWNK CL E G H56652607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM14501160606075
HP:0001260HP:0008376Nasal, dysarthic speech1TWNK CL E G H56652607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM14501160606075
HP:0001260HP:0002464Spastic dysarthria1TWNK CL E G H56652607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM14501160606075
HP:0001260HP:0002464Spastic dysarthria1UBA5 CL E G H79876617133Spinocerebellar ataxia, autosomal recessive 24617133C4310699OMIM122323230610552
HP:0001260HP:0007024Pseudobulbar paralysis1UBA5 CL E G H79876617133Spinocerebellar ataxia, autosomal recessive 24617133C4310699OMIM122323230610552
HP:0001260HP:0008376Nasal, dysarthic speech1UBA5 CL E G H79876617133Spinocerebellar ataxia, autosomal recessive 24617133C4310699OMIM122323230610552
HP:0001260HP:0007024Pseudobulbar paralysis1UBQLN2 CL E G H29978300857Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia300857C3275459OMIM127312509300264
HP:0001260HP:0008376Nasal, dysarthic speech1UBQLN2 CL E G H29978300857Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia300857C3275459OMIM127312509300264
HP:0001260HP:0002464Spastic dysarthria1UBQLN2 CL E G H29978300857Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia300857C3275459OMIM127312509300264
HP:0001260HP:0008376Nasal, dysarthic speech1UROC1 CL E G H131669210128ORPHA112226444613012
HP:0001260HP:0002464Spastic dysarthria1UROC1 CL E G H131669210128ORPHA112226444613012
HP:0001260HP:0007024Pseudobulbar paralysis1UROC1 CL E G H131669210128ORPHA112226444613012
HP:0001260HP:0007024Pseudobulbar paralysis1VAMP1 CL E G H6843108600Ataxia, spastic, 1, autosomal dominant108600C1970107OMIM114112642185880
HP:0001260HP:0008376Nasal, dysarthic speech1VAMP1 CL E G H6843108600Ataxia, spastic, 1, autosomal dominant108600C1970107OMIM114112642185880
HP:0001260HP:0002464Spastic dysarthria1VAMP1 CL E G H6843108600Ataxia, spastic, 1, autosomal dominant108600C1970107OMIM114112642185880
HP:0001260HP:0007024Pseudobulbar paralysis1VAPB CL E G H9217608627Amyotrophic lateral sclerosis type 8608627C1837728OMIM135912649605704
HP:0001260HP:0008376Nasal, dysarthic speech1VAPB CL E G H9217608627Amyotrophic lateral sclerosis type 8608627C1837728OMIM135912649605704
HP:0001260HP:0002464Spastic dysarthria1VAPB CL E G H9217608627Amyotrophic lateral sclerosis type 8608627C1837728OMIM135912649605704
HP:0001260HP:0008376Nasal, dysarthic speech1VCP CL E G H7415275872ORPHA160712666601023
HP:0001260HP:0002464Spastic dysarthria1VCP CL E G H7415275872ORPHA160712666601023
HP:0001260HP:0007024Pseudobulbar paralysis1VCP CL E G H7415275872ORPHA160712666601023
HP:0001260HP:0007024Pseudobulbar paralysis1VCP CL E G H7415613954Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia613954C3151403OMIM160712666601023
HP:0001260HP:0008376Nasal, dysarthic speech1VCP CL E G H7415613954Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia613954C3151403OMIM160712666601023
HP:0001260HP:0002464Spastic dysarthria1VCP CL E G H7415613954Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia613954C3151403OMIM160712666601023
HP:0001260HP:0007024Pseudobulbar paralysis1VLDLR CL E G H7436224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1224050CN074243OMIM157512698192977
HP:0001260HP:0008376Nasal, dysarthic speech1VLDLR CL E G H7436224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1224050CN074243OMIM157512698192977
HP:0001260HP:0002464Spastic dysarthria1VLDLR CL E G H7436224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1224050CN074243OMIM157512698192977
HP:0001260HP:0008376Nasal, dysarthic speech1VPS13A CL E G H232302388ORPHA123621908605978
HP:0001260HP:0002464Spastic dysarthria1VPS13A CL E G H232302388ORPHA123621908605978
HP:0001260HP:0007024Pseudobulbar paralysis1VPS13A CL E G H232302388ORPHA123621908605978
HP:0001260HP:0007024Pseudobulbar paralysis1VPS13A CL E G H23230200150Choreoacanthocytosis200150C0393576OMIM123621908605978
HP:0001260HP:0008376Nasal, dysarthic speech1VPS13A CL E G H23230200150Choreoacanthocytosis200150C0393576OMIM123621908605978
HP:0001260HP:0002464Spastic dysarthria1VPS13A CL E G H23230200150Choreoacanthocytosis200150C0393576OMIM123621908605978
HP:0001260HP:0007024Pseudobulbar paralysis1VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0001260HP:0008376Nasal, dysarthic speech1VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0001260HP:0002464Spastic dysarthria1VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0001260HP:0002464Spastic dysarthria1VWA3B CL E G H200403616948Spinocerebellar ataxia, autosomal recessive 22616948C4310781OMIM112628385614884
HP:0001260HP:0007024Pseudobulbar paralysis1VWA3B CL E G H200403616948Spinocerebellar ataxia, autosomal recessive 22616948C4310781OMIM112628385614884
HP:0001260HP:0008376Nasal, dysarthic speech1VWA3B CL E G H200403616948Spinocerebellar ataxia, autosomal recessive 22616948C4310781OMIM112628385614884
HP:0001260HP:0008376Nasal, dysarthic speech1WDR73 CL E G H8494283472ORPHA122025928616144
HP:0001260HP:0002464Spastic dysarthria1WDR73 CL E G H8494283472ORPHA122025928616144
HP:0001260HP:0007024Pseudobulbar paralysis1WDR73 CL E G H8494283472ORPHA122025928616144
HP:0001260HP:0007024Pseudobulbar paralysis1WDR81 CL E G H124997610185Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2610185C2750234OMIM142026600614218
HP:0001260HP:0008376Nasal, dysarthic speech1WDR81 CL E G H124997610185Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2610185C2750234OMIM142026600614218
HP:0001260HP:0002464Spastic dysarthria1WDR81 CL E G H124997610185Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2610185C2750234OMIM142026600614218
HP:0001260HP:0008376Nasal, dysarthic speech1WFS1 CL E G H74663463ORPHA1163412762606201
HP:0001260HP:0002464Spastic dysarthria1WFS1 CL E G H74663463ORPHA1163412762606201
HP:0001260HP:0007024Pseudobulbar paralysis1WFS1 CL E G H74663463ORPHA1163412762606201
HP:0001260HP:0007024Pseudobulbar paralysis1WFS1 CL E G H7466222300Diabetes mellitus AND insipidus with optic atrophy AND deafness222300C0043207OMIM1163412762606201
HP:0001260HP:0008376Nasal, dysarthic speech1WFS1 CL E G H7466222300Diabetes mellitus AND insipidus with optic atrophy AND deafness222300C0043207OMIM1163412762606201
HP:0001260HP:0002464Spastic dysarthria1WFS1 CL E G H7466222300Diabetes mellitus AND insipidus with optic atrophy AND deafness222300C0043207OMIM1163412762606201
HP:0001260HP:0008376Nasal, dysarthic speech1WWOX CL E G H51741284282ORPHA1110212799605131
HP:0001260HP:0002464Spastic dysarthria1WWOX CL E G H51741284282ORPHA1110212799605131
HP:0001260HP:0007024Pseudobulbar paralysis1WWOX CL E G H51741284282ORPHA1110212799605131
HP:0001260HP:0007024Pseudobulbar paralysis1WWOX CL E G H51741614322Spinocerebellar ataxia, autosomal recessive 12614322C3280452OMIM1110212799605131
HP:0001260HP:0008376Nasal, dysarthic speech1WWOX CL E G H51741614322Spinocerebellar ataxia, autosomal recessive 12614322C3280452OMIM1110212799605131
HP:0001260HP:0002464Spastic dysarthria1WWOX CL E G H51741614322Spinocerebellar ataxia, autosomal recessive 12614322C3280452OMIM1110212799605131
HP:0001260HP:0007024Pseudobulbar paralysis1XK CL E G H7504300842McLeod neuroacanthocytosis syndrome300842C0398568OMIM121812811314850
HP:0001260HP:0008376Nasal, dysarthic speech1XK CL E G H7504300842McLeod neuroacanthocytosis syndrome300842C0398568OMIM121812811314850
HP:0001260HP:0002464Spastic dysarthria1XK CL E G H7504300842McLeod neuroacanthocytosis syndrome300842C0398568OMIM121812811314850
HP:0001260HP:0002464Spastic dysarthria1XPR1 CL E G H9213616413Basal ganglia calcification, idiopathic, 6616413C4225335OMIM123412827605237
HP:0001260HP:0007024Pseudobulbar paralysis1XPR1 CL E G H9213616413Basal ganglia calcification, idiopathic, 6616413C4225335OMIM123412827605237
HP:0001260HP:0008376Nasal, dysarthic speech1XPR1 CL E G H9213616413Basal ganglia calcification, idiopathic, 6616413C4225335OMIM123412827605237
HP:0001260HP:0002464Spastic dysarthria1XRCC1 CL E G H7515617633SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26617633C4539948OMIM18212828194360
HP:0001260HP:0007024Pseudobulbar paralysis1XRCC1 CL E G H7515617633SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26617633C4539948OMIM18212828194360
HP:0001260HP:0008376Nasal, dysarthic speech1XRCC1 CL E G H7515617633SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26617633C4539948OMIM18212828194360
HP:0001260HP:0002464Spastic dysarthria1XRCC4 CL E G H7518616541Short stature, microcephaly, and endocrine dysfunction616541C4225288OMIM112912831194363
HP:0001260HP:0007024Pseudobulbar paralysis1XRCC4 CL E G H7518616541Short stature, microcephaly, and endocrine dysfunction616541C4225288OMIM112912831194363
HP:0001260HP:0008376Nasal, dysarthic speech1XRCC4 CL E G H7518616541Short stature, microcephaly, and endocrine dysfunction616541C4225288OMIM112912831194363
HP:0001260HP:0007024Pseudobulbar paralysis1ZFYVE26 CL E G H23503270700Spastic paraplegia 15270700C1849128OMIM1240820761612012
HP:0001260HP:0008376Nasal, dysarthic speech1ZFYVE26 CL E G H23503270700Spastic paraplegia 15270700C1849128OMIM1240820761612012
HP:0001260HP:0002464Spastic dysarthria1ZFYVE26 CL E G H23503270700Spastic paraplegia 15270700C1849128OMIM1240820761612012
HP:0001260HP:0008376Nasal, dysarthic speech1ZNF592 CL E G H964083472ORPHA112828986613624
HP:0001260HP:0002464Spastic dysarthria1ZNF592 CL E G H964083472ORPHA112828986613624
HP:0001260HP:0007024Pseudobulbar paralysis1ZNF592 CL E G H964083472ORPHA112828986613624
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001260HP:0001260Dysarthria0ANOS1 CL E G H3730478Acral dysostosis dyserythropoiesis syndromeORPHA04706211300836
HP:0001260HP:0001260Dysarthria0ATL1 CL E G H51062100984ORPHA051711231606439
HP:0001260HP:0001260Dysarthria0ATP13A2 CL E G H23400306674ORPHA097430213610513
HP:0001260HP:0001260Dysarthria0ATP13A2 CL E G H23400314632ORPHA097430213610513
HP:0001260HP:0001260Dysarthria0ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM0657106607047
HP:0001260HP:0001260Dysarthria0ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM09810560607640
HP:0001260HP:0001260Dysarthria0BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA0249961605681
HP:0001260HP:0001260Dysarthria0BIN1 CL E G H274169186ORPHA06561052601248
HP:0001260HP:0001260Dysarthria0BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0001260HP:0001260Dysarthria0CACNA1A CL E G H77398758ORPHA032481388601011
HP:0001260HP:0001260Dysarthria0CACNA1G CL E G H8913616795Spinocerebellar ataxia 42616795C4225205OMIM08221394604065
HP:0001260HP:0001260Dysarthria0CAPN1 CL E G H823616907Spastic paraplegia 76, autosomal recessive616907C4310800OMIM02481476114220
HP:0001260HP:0001260Dysarthria0CCDC141 CL E G H285025478Acral dysostosis dyserythropoiesis syndromeORPHA028126821616031
HP:0001260HP:0001260Dysarthria0CHD7 CL E G H55636478Acral dysostosis dyserythropoiesis syndromeORPHA0293020626608892
HP:0001260HP:0001260Dysarthria0CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA02292586603432
HP:0001260HP:0001260Dysarthria0CLN5 CL E G H1203256731Ceroid lipofuscinosis neuronal 5256731C1850442OMIM07022076608102
HP:0001260HP:0001260Dysarthria0COQ2 CL E G H2723598933ORPHA034625223609825
HP:0001260HP:0001260Dysarthria0CP CL E G H135648818ORPHA08312295117700
HP:0001260HP:0001260Dysarthria0CPLX1 CL E G H10815352582ORPHA02062309605032
HP:0001260HP:0001260Dysarthria0CYP7B1 CL E G H9420100986ORPHA04152652603711
HP:0001260HP:0001260Dysarthria0DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM039725538610956
HP:0001260HP:0001260Dysarthria0DCC CL E G H1630478Acral dysostosis dyserythropoiesis syndromeORPHA02592701120470
HP:0001260HP:0001260Dysarthria0DUSP6 CL E G H1848478Acral dysostosis dyserythropoiesis syndromeORPHA0663072602748
HP:0001260HP:0001260Dysarthria0ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA09663327130160
HP:0001260HP:0001260Dysarthria0EPCAM CL E G H4072144ORPHA074411529185535
HP:0001260HP:0001260Dysarthria0ERLIN1 CL E G H10613615681Spastic paraplegia 62, autosomal recessive615681C4284588OMIM013616947611604
HP:0001260HP:0001260Dysarthria0FAN1 CL E G H22909144ORPHA048229170613534
HP:0001260HP:0001260Dysarthria0FEZF1 CL E G H389549478Acral dysostosis dyserythropoiesis syndromeORPHA010922788613301
HP:0001260HP:0001260Dysarthria0FGF14 CL E G H2259609307Spinocerebellar ataxia 27609307C1836383OMIM02513671601515
HP:0001260HP:0001260Dysarthria0FGF17 CL E G H8822478Acral dysostosis dyserythropoiesis syndromeORPHA01193673603725
HP:0001260HP:0001260Dysarthria0FGF8 CL E G H2253478Acral dysostosis dyserythropoiesis syndromeORPHA0983686600483
HP:0001260HP:0001260Dysarthria0FGFR1 CL E G H2260478Acral dysostosis dyserythropoiesis syndromeORPHA09363688136350
HP:0001260HP:0001260Dysarthria0FGFR3 CL E G H226115Antisocial personality disorderORPHA09163690134934
HP:0001260HP:0001260Dysarthria0FLRT3 CL E G H23767478Acral dysostosis dyserythropoiesis syndromeORPHA0773762604808
HP:0001260HP:0001260Dysarthria0GALT CL E G H259279239ORPHA07194135606999
HP:0001260HP:0001260Dysarthria0GJB1 CL E G H2705101075ORPHA08604283304040
HP:0001260HP:0001260Dysarthria0GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA01784659601679
HP:0001260HP:0001260Dysarthria0GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA02664661604318
HP:0001260HP:0001260Dysarthria0HESX1 CL E G H8820478Acral dysostosis dyserythropoiesis syndromeORPHA01124877601802
HP:0001260HP:0001260Dysarthria0HS6ST1 CL E G H9394478Acral dysostosis dyserythropoiesis syndromeORPHA01125201604846
HP:0001260HP:0001260Dysarthria0HSD17B4 CL E G H3295233400Perrault syndrome 1233400OMIM09835213601860
HP:0001260HP:0001260Dysarthria0IL17RD CL E G H54756478Acral dysostosis dyserythropoiesis syndromeORPHA016317616606807
HP:0001260HP:0001260Dysarthria0JAK2 CL E G H371771493ORPHA04126192147796
HP:0001260HP:0001260Dysarthria0KCND3 CL E G H375298772ORPHA04676239605411
HP:0001260HP:0001260Dysarthria0KISS1R CL E G H84634478Acral dysostosis dyserythropoiesis syndromeORPHA01544510604161
HP:0001260HP:0001260Dysarthria0KRAS CL E G H3845144ORPHA04806407190070
HP:0001260HP:0001260Dysarthria0KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0001260HP:0001260Dysarthria0LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA02326613601329
HP:0001260HP:0001260Dysarthria0LMNB1 CL E G H400199027ORPHA02416637150340
HP:0001260HP:0001260Dysarthria0MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0001260HP:0001260Dysarthria0MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0001260HP:0001260Dysarthria0MARS2 CL E G H92935611390Ataxia, spastic, 3, autosomal recessive611390C1969645OMIM020425133609728
HP:0001260HP:0001260Dysarthria0MLH1 CL E G H4292144ORPHA051227127120436
HP:0001260HP:0001260Dysarthria0MLH3 CL E G H27030144ORPHA022107128604395
HP:0001260HP:0001260Dysarthria0MPL CL E G H435271493ORPHA05627217159530
HP:0001260HP:0001260Dysarthria0MSH2 CL E G H4436144ORPHA068567325609309
HP:0001260HP:0001260Dysarthria0MSH6 CL E G H2956144ORPHA084387329600678
HP:0001260HP:0001260Dysarthria0MT-CO1 CL E G H4512550ORPHA07419516030
HP:0001260HP:0001260Dysarthria0MT-CO2 CL E G H4513550ORPHA07421516040
HP:0001260HP:0001260Dysarthria0MT-CO3 CL E G H4514550ORPHA07422516050
HP:0001260HP:0001260Dysarthria0MT-ND1 CL E G H4535550ORPHA07455516000
HP:0001260HP:0001260Dysarthria0MT-ND4 CL E G H4538550ORPHA07459516003
HP:0001260HP:0001260Dysarthria0MT-ND5 CL E G H4540550ORPHA07461516005
HP:0001260HP:0001260Dysarthria0MT-ND6 CL E G H4541550ORPHA07462516006
HP:0001260HP:0001260Dysarthria0MT-TE CL E G H45562596HantavirosisORPHA07479590025
HP:0001260HP:0001260Dysarthria0MT-TF CL E G H4558550ORPHA07481590070
HP:0001260HP:0001260Dysarthria0MT-TH CL E G H4564550ORPHA07487590040
HP:0001260HP:0001260Dysarthria0MT-TL1 CL E G H4567550ORPHA07490590050
HP:0001260HP:0001260Dysarthria0MT-TQ CL E G H4572550ORPHA07495590030
HP:0001260HP:0001260Dysarthria0MT-TS1 CL E G H4574550ORPHA07497590080
HP:0001260HP:0001260Dysarthria0MT-TS2 CL E G H4575550ORPHA07498590085
HP:0001260HP:0001260Dysarthria0MT-TW CL E G H4578550ORPHA07501590095
HP:0001260HP:0001260Dysarthria0NARS2 CL E G H79731616239Combined oxidative phosphorylation deficiency 24616239C4015643OMIM030226274612803
HP:0001260HP:0001260Dysarthria0NKX2-1 CL E G H7080118700Benign hereditary chorea118700C0393584OMIM031711825600635
HP:0001260HP:0001260Dysarthria0NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM06715911614154
HP:0001260HP:0001260Dysarthria0NSMF CL E G H26012478Acral dysostosis dyserythropoiesis syndromeORPHA019729843608137
HP:0001260HP:0001260Dysarthria0NUS1 CL E G H116150617831MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES617831CN757796OMIM032621042610463
HP:0001260HP:0001260Dysarthria0PIEZO2 CL E G H63895617146Arthrogryposis, distal, with impaired proprioception and touch617146C4310692OMIM097826270613629
HP:0001260HP:0001260Dysarthria0PIK3CA CL E G H5290144ORPHA011598975171834
HP:0001260HP:0001260Dysarthria0PLP1 CL E G H535499015ORPHA04519086300401
HP:0001260HP:0001260Dysarthria0PMS1 CL E G H5378144ORPHA01259121600258
HP:0001260HP:0001260Dysarthria0PMS2 CL E G H5395144ORPHA047199122600259
HP:0001260HP:0001260Dysarthria0POLG CL E G H5428254892ORPHA023249179174763
HP:0001260HP:0001260Dysarthria0POLG CL E G H542894125Recessive mitochondrial ataxia syndromeCN206743ORPHA023249179174763
HP:0001260HP:0001260Dysarthria0POLG2 CL E G H11232254892ORPHA03579180604983
HP:0001260HP:0001260Dysarthria0PRKCG CL E G H558298763ORPHA03239402176980
HP:0001260HP:0001260Dysarthria0PROK2 CL E G H60675478Acral dysostosis dyserythropoiesis syndromeORPHA06518455607002
HP:0001260HP:0001260Dysarthria0PROKR2 CL E G H128674478Acral dysostosis dyserythropoiesis syndromeORPHA016015836607123
HP:0001260HP:0001260Dysarthria0PRPS1 CL E G H563199014ORPHA04159462311850
HP:0001260HP:0001260Dysarthria0REEP1 CL E G H65055101011ORPHA043425786609139
HP:0001260HP:0001260Dysarthria0RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA02009970600404
HP:0001260HP:0001260Dysarthria0RRM2B CL E G H50484254892ORPHA035417296604712
HP:0001260HP:0001260Dysarthria0RTTN CL E G H25914614833Microcephaly, short stature, and polymicrogyria with or without seizures614833C3553831OMIM0120618654610436
HP:0001260HP:0001260Dysarthria0RYR1 CL E G H6261169186ORPHA0616410483180901
HP:0001260HP:0001260Dysarthria0SCN8A CL E G H6334614306Cognitive impairment with or without cerebellar ataxia614306C3280415OMIM0179910596600702
HP:0001260HP:0001260Dysarthria0SEMA3A CL E G H10371478Acral dysostosis dyserythropoiesis syndromeORPHA021410723603961
HP:0001260HP:0001260Dysarthria0SETX CL E G H23064606002Spinocerebellar ataxia autosomal recessive 1606002C1853761OMIM01556445608465
HP:0001260HP:0001260Dysarthria0SLC25A4 CL E G H291254892ORPHA033310990103220
HP:0001260HP:0001260Dysarthria0SOX10 CL E G H6663478Acral dysostosis dyserythropoiesis syndromeORPHA037811190602229
HP:0001260HP:0001260Dysarthria0SPAST CL E G H6683100985ORPHA0121511233604277
HP:0001260HP:0001260Dysarthria0SPEG CL E G H10290169186ORPHA0148216901615950
HP:0001260HP:0001260Dysarthria0SPG21 CL E G H51324248900Mast syndrome248900C1855346OMIM016220373608181
HP:0001260HP:0001260Dysarthria0SPG7 CL E G H668799013ORPHA096611237602783
HP:0001260HP:0001260Dysarthria0SPRY4 CL E G H81848478Acral dysostosis dyserythropoiesis syndromeORPHA07815533607984
HP:0001260HP:0001260Dysarthria0TACR3 CL E G H6870478Acral dysostosis dyserythropoiesis syndromeORPHA013211528162332
HP:0001260HP:0001260Dysarthria0TBC1D24 CL E G H57465352582ORPHA089329203613577
HP:0001260HP:0001260Dysarthria0TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA019411586605842
HP:0001260HP:0001260Dysarthria0TGFBR2 CL E G H7048144ORPHA094811773190182
HP:0001260HP:0001260Dysarthria0THPO CL E G H706671493ORPHA014911795600044
HP:0001260HP:0001260Dysarthria0TK2 CL E G H7084254875ORPHA044211831188250
HP:0001260HP:0001260Dysarthria0TTN CL E G H7273169186ORPHA02750312403188840
HP:0001260HP:0001260Dysarthria0TUBB3 CL E G H10381300570ORPHA032020772602661
HP:0001260HP:0001260Dysarthria0TWNK CL E G H56652254892ORPHA04501160606075
HP:0001260HP:0001260Dysarthria0TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0001260HP:0001260Dysarthria0VCP CL E G H7415435387ORPHA060712666601023
HP:0001260HP:0001260Dysarthria0WDR11 CL E G H55717478Acral dysostosis dyserythropoiesis syndromeORPHA036913831606417
HP:0001260HP:0002464Spastic dysarthria1ANOS1 CL E G H3730478Acral dysostosis dyserythropoiesis syndromeORPHA04706211300836
HP:0001260HP:0007024Pseudobulbar paralysis1ANOS1 CL E G H3730478Acral dysostosis dyserythropoiesis syndromeORPHA04706211300836
HP:0001260HP:0008376Nasal, dysarthic speech1ANOS1 CL E G H3730478Acral dysostosis dyserythropoiesis syndromeORPHA04706211300836
HP:0001260HP:0008376Nasal, dysarthic speech1ATL1 CL E G H51062100984ORPHA051711231606439
HP:0001260HP:0002464Spastic dysarthria1ATL1 CL E G H51062100984ORPHA051711231606439
HP:0001260HP:0007024Pseudobulbar paralysis1ATL1 CL E G H51062100984ORPHA051711231606439
HP:0001260HP:0008376Nasal, dysarthic speech1ATP13A2 CL E G H23400306674ORPHA097430213610513
HP:0001260HP:0008376Nasal, dysarthic speech1ATP13A2 CL E G H23400314632ORPHA097430213610513
HP:0001260HP:0002464Spastic dysarthria1ATP13A2 CL E G H23400306674ORPHA097430213610513
HP:0001260HP:0002464Spastic dysarthria1ATP13A2 CL E G H23400314632ORPHA097430213610513
HP:0001260HP:0007024Pseudobulbar paralysis1ATP13A2 CL E G H23400314632ORPHA097430213610513
HP:0001260HP:0007024Pseudobulbar paralysis1ATP13A2 CL E G H23400306674ORPHA097430213610513
HP:0001260HP:0007024Pseudobulbar paralysis1ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM0657106607047
HP:0001260HP:0008376Nasal, dysarthic speech1ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM0657106607047
HP:0001260HP:0002464Spastic dysarthria1ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM0657106607047
HP:0001260HP:0007024Pseudobulbar paralysis1ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM09810560607640
HP:0001260HP:0008376Nasal, dysarthic speech1ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM09810560607640
HP:0001260HP:0002464Spastic dysarthria1ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM09810560607640
HP:0001260HP:0008376Nasal, dysarthic speech1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA0249961605681
HP:0001260HP:0002464Spastic dysarthria1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA0249961605681
HP:0001260HP:0007024Pseudobulbar paralysis1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA0249961605681
HP:0001260HP:0008376Nasal, dysarthic speech1BIN1 CL E G H274169186ORPHA06561052601248
HP:0001260HP:0002464Spastic dysarthria1BIN1 CL E G H274169186ORPHA06561052601248
HP:0001260HP:0007024Pseudobulbar paralysis1BIN1 CL E G H274169186ORPHA06561052601248
HP:0001260HP:0008376Nasal, dysarthic speech1BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0001260HP:0002464Spastic dysarthria1BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0001260HP:0007024Pseudobulbar paralysis1BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0001260HP:0008376Nasal, dysarthic speech1CACNA1A CL E G H77398758ORPHA032481388601011
HP:0001260HP:0002464Spastic dysarthria1CACNA1A CL E G H77398758ORPHA032481388601011
HP:0001260HP:0007024Pseudobulbar paralysis1CACNA1A CL E G H77398758ORPHA032481388601011
HP:0001260HP:0002464Spastic dysarthria1CACNA1G CL E G H8913616795Spinocerebellar ataxia 42616795C4225205OMIM08221394604065
HP:0001260HP:0007024Pseudobulbar paralysis1CACNA1G CL E G H8913616795Spinocerebellar ataxia 42616795C4225205OMIM08221394604065
HP:0001260HP:0008376Nasal, dysarthic speech1CACNA1G CL E G H8913616795Spinocerebellar ataxia 42616795C4225205OMIM08221394604065
HP:0001260HP:0002464Spastic dysarthria1CAPN1 CL E G H823616907Spastic paraplegia 76, autosomal recessive616907C4310800OMIM02481476114220
HP:0001260HP:0007024Pseudobulbar paralysis1CAPN1 CL E G H823616907Spastic paraplegia 76, autosomal recessive616907C4310800OMIM02481476114220
HP:0001260HP:0008376Nasal, dysarthic speech1CAPN1 CL E G H823616907Spastic paraplegia 76, autosomal recessive616907C4310800OMIM02481476114220
HP:0001260HP:0002464Spastic dysarthria1CCDC141 CL E G H285025478Acral dysostosis dyserythropoiesis syndromeORPHA028126821616031
HP:0001260HP:0007024Pseudobulbar paralysis1CCDC141 CL E G H285025478Acral dysostosis dyserythropoiesis syndromeORPHA028126821616031
HP:0001260HP:0008376Nasal, dysarthic speech1CCDC141 CL E G H285025478Acral dysostosis dyserythropoiesis syndromeORPHA028126821616031
HP:0001260HP:0002464Spastic dysarthria1CHD7 CL E G H55636478Acral dysostosis dyserythropoiesis syndromeORPHA0293020626608892
HP:0001260HP:0007024Pseudobulbar paralysis1CHD7 CL E G H55636478Acral dysostosis dyserythropoiesis syndromeORPHA0293020626608892
HP:0001260HP:0008376Nasal, dysarthic speech1CHD7 CL E G H55636478Acral dysostosis dyserythropoiesis syndromeORPHA0293020626608892
HP:0001260HP:0008376Nasal, dysarthic speech1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA02292586603432
HP:0001260HP:0002464Spastic dysarthria1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA02292586603432
HP:0001260HP:0007024Pseudobulbar paralysis1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA02292586603432
HP:0001260HP:0007024Pseudobulbar paralysis1CLN5 CL E G H1203256731Ceroid lipofuscinosis neuronal 5256731C1850442OMIM07022076608102
HP:0001260HP:0008376Nasal, dysarthic speech1CLN5 CL E G H1203256731Ceroid lipofuscinosis neuronal 5256731C1850442OMIM07022076608102
HP:0001260HP:0002464Spastic dysarthria1CLN5 CL E G H1203256731Ceroid lipofuscinosis neuronal 5256731C1850442OMIM07022076608102
HP:0001260HP:0008376Nasal, dysarthic speech1COQ2 CL E G H2723598933ORPHA034625223609825
HP:0001260HP:0002464Spastic dysarthria1COQ2 CL E G H2723598933ORPHA034625223609825
HP:0001260HP:0007024Pseudobulbar paralysis1COQ2 CL E G H2723598933ORPHA034625223609825
HP:0001260HP:0008376Nasal, dysarthic speech1CP CL E G H135648818ORPHA08312295117700
HP:0001260HP:0002464Spastic dysarthria1CP CL E G H135648818ORPHA08312295117700
HP:0001260HP:0007024Pseudobulbar paralysis1CP CL E G H135648818ORPHA08312295117700
HP:0001260HP:0008376Nasal, dysarthic speech1CPLX1 CL E G H10815352582ORPHA02062309605032
HP:0001260HP:0002464Spastic dysarthria1CPLX1 CL E G H10815352582ORPHA02062309605032
HP:0001260HP:0007024Pseudobulbar paralysis1CPLX1 CL E G H10815352582ORPHA02062309605032
HP:0001260HP:0008376Nasal, dysarthic speech1CYP7B1 CL E G H9420100986ORPHA04152652603711
HP:0001260HP:0002464Spastic dysarthria1CYP7B1 CL E G H9420100986ORPHA04152652603711
HP:0001260HP:0007024Pseudobulbar paralysis1CYP7B1 CL E G H9420100986ORPHA04152652603711
HP:0001260HP:0007024Pseudobulbar paralysis1DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM039725538610956
HP:0001260HP:0008376Nasal, dysarthic speech1DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM039725538610956
HP:0001260HP:0002464Spastic dysarthria1DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM039725538610956
HP:0001260HP:0002464Spastic dysarthria1DCC CL E G H1630478Acral dysostosis dyserythropoiesis syndromeORPHA02592701120470
HP:0001260HP:0007024Pseudobulbar paralysis1DCC CL E G H1630478Acral dysostosis dyserythropoiesis syndromeORPHA02592701120470
HP:0001260HP:0008376Nasal, dysarthic speech1DCC CL E G H1630478Acral dysostosis dyserythropoiesis syndromeORPHA02592701120470
HP:0001260HP:0002464Spastic dysarthria1DUSP6 CL E G H1848478Acral dysostosis dyserythropoiesis syndromeORPHA0663072602748
HP:0001260HP:0007024Pseudobulbar paralysis1DUSP6 CL E G H1848478Acral dysostosis dyserythropoiesis syndromeORPHA0663072602748
HP:0001260HP:0008376Nasal, dysarthic speech1DUSP6 CL E G H1848478Acral dysostosis dyserythropoiesis syndromeORPHA0663072602748
HP:0001260HP:0008376Nasal, dysarthic speech1ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA09663327130160
HP:0001260HP:0002464Spastic dysarthria1ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA09663327130160
HP:0001260HP:0007024Pseudobulbar paralysis1ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA09663327130160
HP:0001260HP:0002464Spastic dysarthria1EPCAM CL E G H4072144ORPHA074411529185535
HP:0001260HP:0007024Pseudobulbar paralysis1EPCAM CL E G H4072144ORPHA074411529185535
HP:0001260HP:0008376Nasal, dysarthic speech1EPCAM CL E G H4072144ORPHA074411529185535
HP:0001260HP:0007024Pseudobulbar paralysis1ERLIN1 CL E G H10613615681Spastic paraplegia 62, autosomal recessive615681C4284588OMIM013616947611604
HP:0001260HP:0008376Nasal, dysarthic speech1ERLIN1 CL E G H10613615681Spastic paraplegia 62, autosomal recessive615681C4284588OMIM013616947611604
HP:0001260HP:0002464Spastic dysarthria1ERLIN1 CL E G H10613615681Spastic paraplegia 62, autosomal recessive615681C4284588OMIM013616947611604
HP:0001260HP:0002464Spastic dysarthria1FAN1 CL E G H22909144ORPHA048229170613534
HP:0001260HP:0007024Pseudobulbar paralysis1FAN1 CL E G H22909144ORPHA048229170613534
HP:0001260HP:0008376Nasal, dysarthic speech1FAN1 CL E G H22909144ORPHA048229170613534
HP:0001260HP:0002464Spastic dysarthria1FEZF1 CL E G H389549478Acral dysostosis dyserythropoiesis syndromeORPHA010922788613301
HP:0001260HP:0007024Pseudobulbar paralysis1FEZF1 CL E G H389549478Acral dysostosis dyserythropoiesis syndromeORPHA010922788613301
HP:0001260HP:0008376Nasal, dysarthic speech1FEZF1 CL E G H389549478Acral dysostosis dyserythropoiesis syndromeORPHA010922788613301
HP:0001260HP:0007024Pseudobulbar paralysis1FGF14 CL E G H2259609307Spinocerebellar ataxia 27609307C1836383OMIM02513671601515
HP:0001260HP:0008376Nasal, dysarthic speech1FGF14 CL E G H2259609307Spinocerebellar ataxia 27609307C1836383OMIM02513671601515
HP:0001260HP:0002464Spastic dysarthria1FGF14 CL E G H2259609307Spinocerebellar ataxia 27609307C1836383OMIM02513671601515
HP:0001260HP:0002464Spastic dysarthria1FGF17 CL E G H8822478Acral dysostosis dyserythropoiesis syndromeORPHA01193673603725
HP:0001260HP:0007024Pseudobulbar paralysis1FGF17 CL E G H8822478Acral dysostosis dyserythropoiesis syndromeORPHA01193673603725
HP:0001260HP:0008376Nasal, dysarthic speech1FGF17 CL E G H8822478Acral dysostosis dyserythropoiesis syndromeORPHA01193673603725
HP:0001260HP:0002464Spastic dysarthria1FGF8 CL E G H2253478Acral dysostosis dyserythropoiesis syndromeORPHA0983686600483
HP:0001260HP:0007024Pseudobulbar paralysis1FGF8 CL E G H2253478Acral dysostosis dyserythropoiesis syndromeORPHA0983686600483
HP:0001260HP:0008376Nasal, dysarthic speech1FGF8 CL E G H2253478Acral dysostosis dyserythropoiesis syndromeORPHA0983686600483
HP:0001260HP:0002464Spastic dysarthria1FGFR1 CL E G H2260478Acral dysostosis dyserythropoiesis syndromeORPHA09363688136350
HP:0001260HP:0007024Pseudobulbar paralysis1FGFR1 CL E G H2260478Acral dysostosis dyserythropoiesis syndromeORPHA09363688136350
HP:0001260HP:0008376Nasal, dysarthic speech1FGFR1 CL E G H2260478Acral dysostosis dyserythropoiesis syndromeORPHA09363688136350
HP:0001260HP:0002464Spastic dysarthria1FGFR3 CL E G H226115Antisocial personality disorderORPHA09163690134934
HP:0001260HP:0007024Pseudobulbar paralysis1FGFR3 CL E G H226115Antisocial personality disorderORPHA09163690134934
HP:0001260HP:0008376Nasal, dysarthic speech1FGFR3 CL E G H226115Antisocial personality disorderORPHA09163690134934
HP:0001260HP:0002464Spastic dysarthria1FLRT3 CL E G H23767478Acral dysostosis dyserythropoiesis syndromeORPHA0773762604808
HP:0001260HP:0007024Pseudobulbar paralysis1FLRT3 CL E G H23767478Acral dysostosis dyserythropoiesis syndromeORPHA0773762604808
HP:0001260HP:0008376Nasal, dysarthic speech1FLRT3 CL E G H23767478Acral dysostosis dyserythropoiesis syndromeORPHA0773762604808
HP:0001260HP:0008376Nasal, dysarthic speech1GALT CL E G H259279239ORPHA07194135606999
HP:0001260HP:0002464Spastic dysarthria1GALT CL E G H259279239ORPHA07194135606999
HP:0001260HP:0007024Pseudobulbar paralysis1GALT CL E G H259279239ORPHA07194135606999
HP:0001260HP:0008376Nasal, dysarthic speech1GJB1 CL E G H2705101075ORPHA08604283304040
HP:0001260HP:0002464Spastic dysarthria1GJB1 CL E G H2705101075ORPHA08604283304040
HP:0001260HP:0007024Pseudobulbar paralysis1GJB1 CL E G H2705101075ORPHA08604283304040
HP:0001260HP:0008376Nasal, dysarthic speech1GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA01784659601679
HP:0001260HP:0002464Spastic dysarthria1GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA01784659601679
HP:0001260HP:0007024Pseudobulbar paralysis1GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA01784659601679
HP:0001260HP:0008376Nasal, dysarthic speech1GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA02664661604318
HP:0001260HP:0002464Spastic dysarthria1GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA02664661604318
HP:0001260HP:0007024Pseudobulbar paralysis1GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA02664661604318
HP:0001260HP:0002464Spastic dysarthria1HESX1 CL E G H8820478Acral dysostosis dyserythropoiesis syndromeORPHA01124877601802
HP:0001260HP:0007024Pseudobulbar paralysis1HESX1 CL E G H8820478Acral dysostosis dyserythropoiesis syndromeORPHA01124877601802
HP:0001260HP:0008376Nasal, dysarthic speech1HESX1 CL E G H8820478Acral dysostosis dyserythropoiesis syndromeORPHA01124877601802
HP:0001260HP:0002464Spastic dysarthria1HS6ST1 CL E G H9394478Acral dysostosis dyserythropoiesis syndromeORPHA01125201604846
HP:0001260HP:0007024Pseudobulbar paralysis1HS6ST1 CL E G H9394478Acral dysostosis dyserythropoiesis syndromeORPHA01125201604846
HP:0001260HP:0008376Nasal, dysarthic speech1HS6ST1 CL E G H9394478Acral dysostosis dyserythropoiesis syndromeORPHA01125201604846
HP:0001260HP:0007024Pseudobulbar paralysis1HSD17B4 CL E G H3295233400Perrault syndrome 1233400OMIM09835213601860
HP:0001260HP:0008376Nasal, dysarthic speech1HSD17B4 CL E G H3295233400Perrault syndrome 1233400OMIM09835213601860
HP:0001260HP:0002464Spastic dysarthria1HSD17B4 CL E G H3295233400Perrault syndrome 1233400OMIM09835213601860
HP:0001260HP:0002464Spastic dysarthria1IL17RD CL E G H54756478Acral dysostosis dyserythropoiesis syndromeORPHA016317616606807
HP:0001260HP:0007024Pseudobulbar paralysis1IL17RD CL E G H54756478Acral dysostosis dyserythropoiesis syndromeORPHA016317616606807
HP:0001260HP:0008376Nasal, dysarthic speech1IL17RD CL E G H54756478Acral dysostosis dyserythropoiesis syndromeORPHA016317616606807
HP:0001260HP:0008376Nasal, dysarthic speech1JAK2 CL E G H371771493ORPHA04126192147796
HP:0001260HP:0002464Spastic dysarthria1JAK2 CL E G H371771493ORPHA04126192147796
HP:0001260HP:0007024Pseudobulbar paralysis1JAK2 CL E G H371771493ORPHA04126192147796
HP:0001260HP:0008376Nasal, dysarthic speech1KCND3 CL E G H375298772ORPHA04676239605411
HP:0001260HP:0002464Spastic dysarthria1KCND3 CL E G H375298772ORPHA04676239605411
HP:0001260HP:0007024Pseudobulbar paralysis1KCND3 CL E G H375298772ORPHA04676239605411
HP:0001260HP:0002464Spastic dysarthria1KISS1R CL E G H84634478Acral dysostosis dyserythropoiesis syndromeORPHA01544510604161
HP:0001260HP:0007024Pseudobulbar paralysis1KISS1R CL E G H84634478Acral dysostosis dyserythropoiesis syndromeORPHA01544510604161
HP:0001260HP:0008376Nasal, dysarthic speech1KISS1R CL E G H84634478Acral dysostosis dyserythropoiesis syndromeORPHA01544510604161
HP:0001260HP:0002464Spastic dysarthria1KRAS CL E G H3845144ORPHA04806407190070
HP:0001260HP:0007024Pseudobulbar paralysis1KRAS CL E G H3845144ORPHA04806407190070
HP:0001260HP:0008376Nasal, dysarthic speech1KRAS CL E G H3845144ORPHA04806407190070
HP:0001260HP:0008376Nasal, dysarthic speech1KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0001260HP:0002464Spastic dysarthria1KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0001260HP:0007024Pseudobulbar paralysis1KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0001260HP:0008376Nasal, dysarthic speech1LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA02326613601329
HP:0001260HP:0002464Spastic dysarthria1LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA02326613601329
HP:0001260HP:0007024Pseudobulbar paralysis1LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA02326613601329
HP:0001260HP:0008376Nasal, dysarthic speech1LMNB1 CL E G H400199027ORPHA02416637150340
HP:0001260HP:0002464Spastic dysarthria1LMNB1 CL E G H400199027ORPHA02416637150340
HP:0001260HP:0007024Pseudobulbar paralysis1LMNB1 CL E G H400199027ORPHA02416637150340
HP:0001260HP:0008376Nasal, dysarthic speech1MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0001260HP:0002464Spastic dysarthria1MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0001260HP:0007024Pseudobulbar paralysis1MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0001260HP:0008376Nasal, dysarthic speech1MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0001260HP:0002464Spastic dysarthria1MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0001260HP:0007024Pseudobulbar paralysis1MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0001260HP:0007024Pseudobulbar paralysis1MARS2 CL E G H92935611390Ataxia, spastic, 3, autosomal recessive611390C1969645OMIM020425133609728
HP:0001260HP:0008376Nasal, dysarthic speech1MARS2 CL E G H92935611390Ataxia, spastic, 3, autosomal recessive611390C1969645OMIM020425133609728
HP:0001260HP:0002464Spastic dysarthria1MARS2 CL E G H92935611390Ataxia, spastic, 3, autosomal recessive611390C1969645OMIM020425133609728
HP:0001260HP:0002464Spastic dysarthria1MLH1 CL E G H4292144ORPHA051227127120436
HP:0001260HP:0007024Pseudobulbar paralysis1MLH1 CL E G H4292144ORPHA051227127120436
HP:0001260HP:0008376Nasal, dysarthic speech1MLH1 CL E G H4292144ORPHA051227127120436
HP:0001260HP:0002464Spastic dysarthria1MLH3 CL E G H27030144ORPHA022107128604395
HP:0001260HP:0007024Pseudobulbar paralysis1MLH3 CL E G H27030144ORPHA022107128604395
HP:0001260HP:0008376Nasal, dysarthic speech1MLH3 CL E G H27030144ORPHA022107128604395
HP:0001260HP:0008376Nasal, dysarthic speech1MPL CL E G H435271493ORPHA05627217159530
HP:0001260HP:0002464Spastic dysarthria1MPL CL E G H435271493ORPHA05627217159530
HP:0001260HP:0007024Pseudobulbar paralysis1MPL CL E G H435271493ORPHA05627217159530
HP:0001260HP:0002464Spastic dysarthria1MSH2 CL E G H4436144ORPHA068567325609309
HP:0001260HP:0007024Pseudobulbar paralysis1MSH2 CL E G H4436144ORPHA068567325609309
HP:0001260HP:0008376Nasal, dysarthic speech1MSH2 CL E G H4436144ORPHA068567325609309
HP:0001260HP:0002464Spastic dysarthria1MSH6 CL E G H2956144ORPHA084387329600678
HP:0001260HP:0007024Pseudobulbar paralysis1MSH6 CL E G H2956144ORPHA084387329600678
HP:0001260HP:0008376Nasal, dysarthic speech1MSH6 CL E G H2956144ORPHA084387329600678
HP:0001260HP:0002464Spastic dysarthria1MT-CO1 CL E G H4512550ORPHA07419516030
HP:0001260HP:0007024Pseudobulbar paralysis1MT-CO1 CL E G H4512550ORPHA07419516030
HP:0001260HP:0008376Nasal, dysarthic speech1MT-CO1 CL E G H4512550ORPHA07419516030
HP:0001260HP:0002464Spastic dysarthria1MT-CO2 CL E G H4513550ORPHA07421516040
HP:0001260HP:0007024Pseudobulbar paralysis1MT-CO2 CL E G H4513550ORPHA07421516040
HP:0001260HP:0008376Nasal, dysarthic speech1MT-CO2 CL E G H4513550ORPHA07421516040
HP:0001260HP:0002464Spastic dysarthria1MT-CO3 CL E G H4514550ORPHA07422516050
HP:0001260HP:0007024Pseudobulbar paralysis1MT-CO3 CL E G H4514550ORPHA07422516050
HP:0001260HP:0008376Nasal, dysarthic speech1MT-CO3 CL E G H4514550ORPHA07422516050
HP:0001260HP:0002464Spastic dysarthria1MT-ND1 CL E G H4535550ORPHA07455516000
HP:0001260HP:0007024Pseudobulbar paralysis1MT-ND1 CL E G H4535550ORPHA07455516000
HP:0001260HP:0008376Nasal, dysarthic speech1MT-ND1 CL E G H4535550ORPHA07455516000
HP:0001260HP:0002464Spastic dysarthria1MT-ND4 CL E G H4538550ORPHA07459516003
HP:0001260HP:0007024Pseudobulbar paralysis1MT-ND4 CL E G H4538550ORPHA07459516003
HP:0001260HP:0008376Nasal, dysarthic speech1MT-ND4 CL E G H4538550ORPHA07459516003
HP:0001260HP:0002464Spastic dysarthria1MT-ND5 CL E G H4540550ORPHA07461516005
HP:0001260HP:0007024Pseudobulbar paralysis1MT-ND5 CL E G H4540550ORPHA07461516005
HP:0001260HP:0008376Nasal, dysarthic speech1MT-ND5 CL E G H4540550ORPHA07461516005
HP:0001260HP:0002464Spastic dysarthria1MT-ND6 CL E G H4541550ORPHA07462516006
HP:0001260HP:0007024Pseudobulbar paralysis1MT-ND6 CL E G H4541550ORPHA07462516006
HP:0001260HP:0008376Nasal, dysarthic speech1MT-ND6 CL E G H4541550ORPHA07462516006
HP:0001260HP:0008376Nasal, dysarthic speech1MT-TE CL E G H45562596HantavirosisORPHA07479590025
HP:0001260HP:0002464Spastic dysarthria1MT-TE CL E G H45562596HantavirosisORPHA07479590025
HP:0001260HP:0007024Pseudobulbar paralysis1MT-TE CL E G H45562596HantavirosisORPHA07479590025
HP:0001260HP:0002464Spastic dysarthria1MT-TF CL E G H4558550ORPHA07481590070
HP:0001260HP:0007024Pseudobulbar paralysis1MT-TF CL E G H4558550ORPHA07481590070
HP:0001260HP:0008376Nasal, dysarthic speech1MT-TF CL E G H4558550ORPHA07481590070
HP:0001260HP:0002464Spastic dysarthria1MT-TH CL E G H4564550ORPHA07487590040
HP:0001260HP:0007024Pseudobulbar paralysis1MT-TH CL E G H4564550ORPHA07487590040
HP:0001260HP:0008376Nasal, dysarthic speech1MT-TH CL E G H4564550ORPHA07487590040
HP:0001260HP:0008376Nasal, dysarthic speech1MT-TL1 CL E G H4567550ORPHA07490590050
HP:0001260HP:0002464Spastic dysarthria1MT-TL1 CL E G H4567550ORPHA07490590050
HP:0001260HP:0007024Pseudobulbar paralysis1MT-TL1 CL E G H4567550ORPHA07490590050
HP:0001260HP:0008376Nasal, dysarthic speech1MT-TQ CL E G H4572550ORPHA07495590030
HP:0001260HP:0002464Spastic dysarthria1MT-TQ CL E G H4572550ORPHA07495590030
HP:0001260HP:0007024Pseudobulbar paralysis1MT-TQ CL E G H4572550ORPHA07495590030
HP:0001260HP:0008376Nasal, dysarthic speech1MT-TS1 CL E G H4574550ORPHA07497590080
HP:0001260HP:0002464Spastic dysarthria1MT-TS1 CL E G H4574550ORPHA07497590080
HP:0001260HP:0007024Pseudobulbar paralysis1MT-TS1 CL E G H4574550ORPHA07497590080
HP:0001260HP:0008376Nasal, dysarthic speech1MT-TS2 CL E G H4575550ORPHA07498590085
HP:0001260HP:0002464Spastic dysarthria1MT-TS2 CL E G H4575550ORPHA07498590085
HP:0001260HP:0007024Pseudobulbar paralysis1MT-TS2 CL E G H4575550ORPHA07498590085
HP:0001260HP:0008376Nasal, dysarthic speech1MT-TW CL E G H4578550ORPHA07501590095
HP:0001260HP:0002464Spastic dysarthria1MT-TW CL E G H4578550ORPHA07501590095
HP:0001260HP:0007024Pseudobulbar paralysis1MT-TW CL E G H4578550ORPHA07501590095
HP:0001260HP:0002464Spastic dysarthria1NARS2 CL E G H79731616239Combined oxidative phosphorylation deficiency 24616239C4015643OMIM030226274612803
HP:0001260HP:0007024Pseudobulbar paralysis1NARS2 CL E G H79731616239Combined oxidative phosphorylation deficiency 24616239C4015643OMIM030226274612803
HP:0001260HP:0008376Nasal, dysarthic speech1NARS2 CL E G H79731616239Combined oxidative phosphorylation deficiency 24616239C4015643OMIM030226274612803
HP:0001260HP:0007024Pseudobulbar paralysis1NKX2-1 CL E G H7080118700Benign hereditary chorea118700C0393584OMIM031711825600635
HP:0001260HP:0008376Nasal, dysarthic speech1NKX2-1 CL E G H7080118700Benign hereditary chorea118700C0393584OMIM031711825600635
HP:0001260HP:0002464Spastic dysarthria1NKX2-1 CL E G H7080118700Benign hereditary chorea118700C0393584OMIM031711825600635
HP:0001260HP:0007024Pseudobulbar paralysis1NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM06715911614154
HP:0001260HP:0008376Nasal, dysarthic speech1NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM06715911614154
HP:0001260HP:0002464Spastic dysarthria1NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM06715911614154
HP:0001260HP:0002464Spastic dysarthria1NSMF CL E G H26012478Acral dysostosis dyserythropoiesis syndromeORPHA019729843608137
HP:0001260HP:0007024Pseudobulbar paralysis1NSMF CL E G H26012478Acral dysostosis dyserythropoiesis syndromeORPHA019729843608137
HP:0001260HP:0008376Nasal, dysarthic speech1NSMF CL E G H26012478Acral dysostosis dyserythropoiesis syndromeORPHA019729843608137
HP:0001260HP:0002464Spastic dysarthria1NUS1 CL E G H116150617831MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES617831CN757796OMIM032621042610463
HP:0001260HP:0007024Pseudobulbar paralysis1NUS1 CL E G H116150617831MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES617831CN757796OMIM032621042610463
HP:0001260HP:0008376Nasal, dysarthic speech1NUS1 CL E G H116150617831MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES617831CN757796OMIM032621042610463
HP:0001260HP:0002464Spastic dysarthria1PIEZO2 CL E G H63895617146Arthrogryposis, distal, with impaired proprioception and touch617146C4310692OMIM097826270613629
HP:0001260HP:0007024Pseudobulbar paralysis1PIEZO2 CL E G H63895617146Arthrogryposis, distal, with impaired proprioception and touch617146C4310692OMIM097826270613629
HP:0001260HP:0008376Nasal, dysarthic speech1PIEZO2 CL E G H63895617146Arthrogryposis, distal, with impaired proprioception and touch617146C4310692OMIM097826270613629
HP:0001260HP:0002464Spastic dysarthria1PIK3CA CL E G H5290144ORPHA011598975171834
HP:0001260HP:0007024Pseudobulbar paralysis1PIK3CA CL E G H5290144ORPHA011598975171834
HP:0001260HP:0008376Nasal, dysarthic speech1PIK3CA CL E G H5290144ORPHA011598975171834
HP:0001260HP:0008376Nasal, dysarthic speech1PLP1 CL E G H535499015ORPHA04519086300401
HP:0001260HP:0002464Spastic dysarthria1PLP1 CL E G H535499015ORPHA04519086300401
HP:0001260HP:0007024Pseudobulbar paralysis1PLP1 CL E G H535499015ORPHA04519086300401
HP:0001260HP:0002464Spastic dysarthria1PMS1 CL E G H5378144ORPHA01259121600258
HP:0001260HP:0007024Pseudobulbar paralysis1PMS1 CL E G H5378144ORPHA01259121600258
HP:0001260HP:0008376Nasal, dysarthic speech1PMS1 CL E G H5378144ORPHA01259121600258
HP:0001260HP:0002464Spastic dysarthria1PMS2 CL E G H5395144ORPHA047199122600259
HP:0001260HP:0007024Pseudobulbar paralysis1PMS2 CL E G H5395144ORPHA047199122600259
HP:0001260HP:0008376Nasal, dysarthic speech1PMS2 CL E G H5395144ORPHA047199122600259
HP:0001260HP:0008376Nasal, dysarthic speech1POLG CL E G H5428254892ORPHA023249179174763
HP:0001260HP:0002464Spastic dysarthria1POLG CL E G H5428254892ORPHA023249179174763
HP:0001260HP:0007024Pseudobulbar paralysis1POLG CL E G H5428254892ORPHA023249179174763
HP:0001260HP:0008376Nasal, dysarthic speech1POLG CL E G H542894125Recessive mitochondrial ataxia syndromeCN206743ORPHA023249179174763
HP:0001260HP:0002464Spastic dysarthria1POLG CL E G H542894125Recessive mitochondrial ataxia syndromeCN206743ORPHA023249179174763
HP:0001260HP:0007024Pseudobulbar paralysis1POLG CL E G H542894125Recessive mitochondrial ataxia syndromeCN206743ORPHA023249179174763
HP:0001260HP:0008376Nasal, dysarthic speech1POLG2 CL E G H11232254892ORPHA03579180604983
HP:0001260HP:0002464Spastic dysarthria1POLG2 CL E G H11232254892ORPHA03579180604983
HP:0001260HP:0007024Pseudobulbar paralysis1POLG2 CL E G H11232254892ORPHA03579180604983
HP:0001260HP:0008376Nasal, dysarthic speech1PRKCG CL E G H558298763ORPHA03239402176980
HP:0001260HP:0002464Spastic dysarthria1PRKCG CL E G H558298763ORPHA03239402176980
HP:0001260HP:0007024Pseudobulbar paralysis1PRKCG CL E G H558298763ORPHA03239402176980
HP:0001260HP:0002464Spastic dysarthria1PROK2 CL E G H60675478Acral dysostosis dyserythropoiesis syndromeORPHA06518455607002
HP:0001260HP:0007024Pseudobulbar paralysis1PROK2 CL E G H60675478Acral dysostosis dyserythropoiesis syndromeORPHA06518455607002
HP:0001260HP:0008376Nasal, dysarthic speech1PROK2 CL E G H60675478Acral dysostosis dyserythropoiesis syndromeORPHA06518455607002
HP:0001260HP:0002464Spastic dysarthria1PROKR2 CL E G H128674478Acral dysostosis dyserythropoiesis syndromeORPHA016015836607123
HP:0001260HP:0007024Pseudobulbar paralysis1PROKR2 CL E G H128674478Acral dysostosis dyserythropoiesis syndromeORPHA016015836607123
HP:0001260HP:0008376Nasal, dysarthic speech1PROKR2 CL E G H128674478Acral dysostosis dyserythropoiesis syndromeORPHA016015836607123
HP:0001260HP:0008376Nasal, dysarthic speech1PRPS1 CL E G H563199014ORPHA04159462311850
HP:0001260HP:0002464Spastic dysarthria1PRPS1 CL E G H563199014ORPHA04159462311850
HP:0001260HP:0007024Pseudobulbar paralysis1PRPS1 CL E G H563199014ORPHA04159462311850
HP:0001260HP:0008376Nasal, dysarthic speech1REEP1 CL E G H65055101011ORPHA043425786609139
HP:0001260HP:0002464Spastic dysarthria1REEP1 CL E G H65055101011ORPHA043425786609139
HP:0001260HP:0007024Pseudobulbar paralysis1REEP1 CL E G H65055101011ORPHA043425786609139
HP:0001260HP:0008376Nasal, dysarthic speech1RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA02009970600404
HP:0001260HP:0002464Spastic dysarthria1RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA02009970600404
HP:0001260HP:0007024Pseudobulbar paralysis1RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA02009970600404
HP:0001260HP:0008376Nasal, dysarthic speech1RRM2B CL E G H50484254892ORPHA035417296604712
HP:0001260HP:0002464Spastic dysarthria1RRM2B CL E G H50484254892ORPHA035417296604712
HP:0001260HP:0007024Pseudobulbar paralysis1RRM2B CL E G H50484254892ORPHA035417296604712
HP:0001260HP:0007024Pseudobulbar paralysis1RTTN CL E G H25914614833Microcephaly, short stature, and polymicrogyria with or without seizures614833C3553831OMIM0120618654610436
HP:0001260HP:0008376Nasal, dysarthic speech1RTTN CL E G H25914614833Microcephaly, short stature, and polymicrogyria with or without seizures614833C3553831OMIM0120618654610436
HP:0001260HP:0002464Spastic dysarthria1RTTN CL E G H25914614833Microcephaly, short stature, and polymicrogyria with or without seizures614833C3553831OMIM0120618654610436
HP:0001260HP:0008376Nasal, dysarthic speech1RYR1 CL E G H6261169186ORPHA0616410483180901
HP:0001260HP:0002464Spastic dysarthria1RYR1 CL E G H6261169186ORPHA0616410483180901
HP:0001260HP:0007024Pseudobulbar paralysis1RYR1 CL E G H6261169186ORPHA0616410483180901
HP:0001260HP:0007024Pseudobulbar paralysis1SCN8A CL E G H6334614306Cognitive impairment with or without cerebellar ataxia614306C3280415OMIM0179910596600702
HP:0001260HP:0008376Nasal, dysarthic speech1SCN8A CL E G H6334614306Cognitive impairment with or without cerebellar ataxia614306C3280415OMIM0179910596600702
HP:0001260HP:0002464Spastic dysarthria1SCN8A CL E G H6334614306Cognitive impairment with or without cerebellar ataxia614306C3280415OMIM0179910596600702
HP:0001260HP:0002464Spastic dysarthria1SEMA3A CL E G H10371478Acral dysostosis dyserythropoiesis syndromeORPHA021410723603961
HP:0001260HP:0007024Pseudobulbar paralysis1SEMA3A CL E G H10371478Acral dysostosis dyserythropoiesis syndromeORPHA021410723603961
HP:0001260HP:0008376Nasal, dysarthic speech1SEMA3A CL E G H10371478Acral dysostosis dyserythropoiesis syndromeORPHA021410723603961
HP:0001260HP:0007024Pseudobulbar paralysis1SETX CL E G H23064606002Spinocerebellar ataxia autosomal recessive 1606002C1853761OMIM01556445608465
HP:0001260HP:0008376Nasal, dysarthic speech1SETX CL E G H23064606002Spinocerebellar ataxia autosomal recessive 1606002C1853761OMIM01556445608465
HP:0001260HP:0002464Spastic dysarthria1SETX CL E G H23064606002Spinocerebellar ataxia autosomal recessive 1606002C1853761OMIM01556445608465
HP:0001260HP:0008376Nasal, dysarthic speech1SLC25A4 CL E G H291254892ORPHA033310990103220
HP:0001260HP:0002464Spastic dysarthria1SLC25A4 CL E G H291254892ORPHA033310990103220
HP:0001260HP:0007024Pseudobulbar paralysis1SLC25A4 CL E G H291254892ORPHA033310990103220
HP:0001260HP:0002464Spastic dysarthria1SOX10 CL E G H6663478Acral dysostosis dyserythropoiesis syndromeORPHA037811190602229
HP:0001260HP:0007024Pseudobulbar paralysis1SOX10 CL E G H6663478Acral dysostosis dyserythropoiesis syndromeORPHA037811190602229
HP:0001260HP:0008376Nasal, dysarthic speech1SOX10 CL E G H6663478Acral dysostosis dyserythropoiesis syndromeORPHA037811190602229
HP:0001260HP:0008376Nasal, dysarthic speech1SPAST CL E G H6683100985ORPHA0121511233604277
HP:0001260HP:0002464Spastic dysarthria1SPAST CL E G H6683100985ORPHA0121511233604277
HP:0001260HP:0007024Pseudobulbar paralysis1SPAST CL E G H6683100985ORPHA0121511233604277
HP:0001260HP:0008376Nasal, dysarthic speech1SPEG CL E G H10290169186ORPHA0148216901615950
HP:0001260HP:0002464Spastic dysarthria1SPEG CL E G H10290169186ORPHA0148216901615950
HP:0001260HP:0007024Pseudobulbar paralysis1SPEG CL E G H10290169186ORPHA0148216901615950
HP:0001260HP:0007024Pseudobulbar paralysis1SPG21 CL E G H51324248900Mast syndrome248900C1855346OMIM016220373608181
HP:0001260HP:0008376Nasal, dysarthic speech1SPG21 CL E G H51324248900Mast syndrome248900C1855346OMIM016220373608181
HP:0001260HP:0002464Spastic dysarthria1SPG21 CL E G H51324248900Mast syndrome248900C1855346OMIM016220373608181
HP:0001260HP:0008376Nasal, dysarthic speech1SPG7 CL E G H668799013ORPHA096611237602783
HP:0001260HP:0002464Spastic dysarthria1SPG7 CL E G H668799013ORPHA096611237602783
HP:0001260HP:0007024Pseudobulbar paralysis1SPG7 CL E G H668799013ORPHA096611237602783
HP:0001260HP:0002464Spastic dysarthria1SPRY4 CL E G H81848478Acral dysostosis dyserythropoiesis syndromeORPHA07815533607984
HP:0001260HP:0007024Pseudobulbar paralysis1SPRY4 CL E G H81848478Acral dysostosis dyserythropoiesis syndromeORPHA07815533607984
HP:0001260HP:0008376Nasal, dysarthic speech1SPRY4 CL E G H81848478Acral dysostosis dyserythropoiesis syndromeORPHA07815533607984
HP:0001260HP:0002464Spastic dysarthria1TACR3 CL E G H6870478Acral dysostosis dyserythropoiesis syndromeORPHA013211528162332
HP:0001260HP:0007024Pseudobulbar paralysis1TACR3 CL E G H6870478Acral dysostosis dyserythropoiesis syndromeORPHA013211528162332
HP:0001260HP:0008376Nasal, dysarthic speech1TACR3 CL E G H6870478Acral dysostosis dyserythropoiesis syndromeORPHA013211528162332
HP:0001260HP:0008376Nasal, dysarthic speech1TBC1D24 CL E G H57465352582ORPHA089329203613577
HP:0001260HP:0002464Spastic dysarthria1TBC1D24 CL E G H57465352582ORPHA089329203613577
HP:0001260HP:0007024Pseudobulbar paralysis1TBC1D24 CL E G H57465352582ORPHA089329203613577
HP:0001260HP:0008376Nasal, dysarthic speech1TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA019411586605842
HP:0001260HP:0002464Spastic dysarthria1TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA019411586605842
HP:0001260HP:0007024Pseudobulbar paralysis1TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA019411586605842
HP:0001260HP:0002464Spastic dysarthria1TGFBR2 CL E G H7048144ORPHA094811773190182
HP:0001260HP:0007024Pseudobulbar paralysis1TGFBR2 CL E G H7048144ORPHA094811773190182
HP:0001260HP:0008376Nasal, dysarthic speech1TGFBR2 CL E G H7048144ORPHA094811773190182
HP:0001260HP:0008376Nasal, dysarthic speech1THPO CL E G H706671493ORPHA014911795600044
HP:0001260HP:0002464Spastic dysarthria1THPO CL E G H706671493ORPHA014911795600044
HP:0001260HP:0007024Pseudobulbar paralysis1THPO CL E G H706671493ORPHA014911795600044
HP:0001260HP:0008376Nasal, dysarthic speech1TK2 CL E G H7084254875ORPHA044211831188250
HP:0001260HP:0002464Spastic dysarthria1TK2 CL E G H7084254875ORPHA044211831188250
HP:0001260HP:0007024Pseudobulbar paralysis1TK2 CL E G H7084254875ORPHA044211831188250
HP:0001260HP:0008376Nasal, dysarthic speech1TTN CL E G H7273169186ORPHA02750312403188840
HP:0001260HP:0002464Spastic dysarthria1TTN CL E G H7273169186ORPHA02750312403188840
HP:0001260HP:0007024Pseudobulbar paralysis1TTN CL E G H7273169186ORPHA02750312403188840
HP:0001260HP:0008376Nasal, dysarthic speech1TUBB3 CL E G H10381300570ORPHA032020772602661
HP:0001260HP:0002464Spastic dysarthria1TUBB3 CL E G H10381300570ORPHA032020772602661
HP:0001260HP:0007024Pseudobulbar paralysis1TUBB3 CL E G H10381300570ORPHA032020772602661
HP:0001260HP:0008376Nasal, dysarthic speech1TWNK CL E G H56652254892ORPHA04501160606075
HP:0001260HP:0002464Spastic dysarthria1TWNK CL E G H56652254892ORPHA04501160606075
HP:0001260HP:0007024Pseudobulbar paralysis1TWNK CL E G H56652254892ORPHA04501160606075
HP:0001260HP:0007024Pseudobulbar paralysis1TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0001260HP:0008376Nasal, dysarthic speech1TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0001260HP:0002464Spastic dysarthria1TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0001260HP:0008376Nasal, dysarthic speech1VCP CL E G H7415435387ORPHA060712666601023
HP:0001260HP:0002464Spastic dysarthria1VCP CL E G H7415435387ORPHA060712666601023
HP:0001260HP:0007024Pseudobulbar paralysis1VCP CL E G H7415435387ORPHA060712666601023
HP:0001260HP:0002464Spastic dysarthria1WDR11 CL E G H55717478Acral dysostosis dyserythropoiesis syndromeORPHA036913831606417
HP:0001260HP:0007024Pseudobulbar paralysis1WDR11 CL E G H55717478Acral dysostosis dyserythropoiesis syndromeORPHA036913831606417
HP:0001260HP:0008376Nasal, dysarthic speech1WDR11 CL E G H55717478Acral dysostosis dyserythropoiesis syndromeORPHA036913831606417


Genes (433) :A2ML1 AAAS AARS2 ABCB7 ABHD12 ADA2 ADAR ADCY5 ADPRHL2 AFG3L2 ALDH18A1 ALDH3A2 ALS2 AMACR ANO10 ANOS1 AP4B1 AP4E1 AP4M1 AP4S1 APTX AR ARSA ARX ATCAY ATL1 ATM ATN1 ATP13A2 ATP1A2 ATP1A3 ATP2B3 ATP6 ATP7B ATP8A2 ATXN1 ATXN10 ATXN2 ATXN3 ATXN7 ATXN8 ATXN8OS AUH B4GALNT1 BAZ1B BCS1L BEAN1 BIN1 BRAF C12ORF65 C12orf65 C19ORF12 C19orf12 C9ORF72 C9orf72 CA8 CACNA1A CACNA1G CACNB4 CAMTA1 CAPN1 CCDC141 CCDC88C CHCHD10 CHD2 CHD3 CHD7 CHMP2B CHRNA1 CHRNE CISD2 CLIP2 CLN3 CLN5 COASY COLQ COQ2 COX1 COX10 COX15 COX2 COX3 CP CPLX1 CSTB CTC1 CTSF CWF19L1 CYP27A1 CYP7B1 DAB1 DARS2 DCAF17 DCC DCTN1 DCX DDHD2 DMXL2 DNAJB6 DNAJC6 DUSP6 EBF3 ECHS1 EEF2 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 ELN ELOVL4 ELOVL5 ENTPD1 EPCAM ERCC2 ERCC3 ERCC4 ERCC5 ERCC8 ERLIN1 ERLIN2 EZH2 FA2H FAM126A FAN1 FAT2 FBXO7 FEZF1 FGF14 FGF17 FGF8 FGFR1 FGFR3 FLRT1 FLRT3 FMR1 FOXRED1 FTL FUS FXN GALT GAN GBA2 GFPT1 GJA1 GJB1 GJC2 GLRX5 GNS GOSR2 GPAA1 GPT2 GRHL3 GRID2 GRM1 GSS GTF2I GTF2IRD1 HACE1 HEPACAM HESX1 HEXB HOXB1 HPCA HPRT1 HS6ST1 HSD17B10 HSD17B4 HTRA1 IFRD1 IL17RD INPP5K IRF2BPL ITPR1 JAK2 JPH3 KAT6B KCNA1 KCNA4 KCNC3 KCND3 KCTD17 KCTD7 KIF1C KISS1R KLC2 KMT2B KRAS LIMK1 LIPT1 LMNB1 LYRM7 LZTR1 MAG MAN2B1 MAP2K1 MAP2K2 MAPT MARS2 MATR3 MECR MED13L MICOS13 MLH1 MLH3 MME MMUT MPL MRE11 MSH2 MSH6 MT-ATP6 MTFMT MTPAP MYOT NARS2 ND1 ND4 ND5 ND6 NDUFA10 NDUFA12 NDUFA13 NDUFA2 NDUFA4 NDUFA9 NDUFAF2 NDUFAF5 NDUFAF6 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NKX2-1 NKX6-2 NOP56 NOTCH3 NPC1 NPC2 NR4A2 NRAS NSMF NSUN2 NUBPL NUP62 NUS1 OPA3 OPTN PABPN1 PANK2 PCNA PDE10A PDE8B PDGFB PDGFRB PDHA1 PDYN PET100 PEX10 PEX16 PEX2 PEX6 PFN1 PGM3 PIEZO2 PIK3CA PIK3R5 PLA2G6 PLD3 PLEKHG4 PLP1 PMPCA PMS1 PMS2 PNKD PNPLA8 POLG POLG2 POLR3A POLR3B PPP1R15B PPP2R2B PRDM8 PRICKLE1 PRKCG PRKRA PRNP PROK2 PROKR2 PRPS1 PSAP PSEN1 PTPN11 PUM1 RAB39B RAB3GAP2 RAF1 RAI1 RANBP2 RARS RASA2 REEP1 REPS1 RERE RFC2 RIT1 RNASEH1 RNF216 RNU12 RPIA RRAS RRM2B RTTN RUBCN RYR1 SACS SAMD9L SCARB2 SCN8A SCO2 SDHA SEMA3A SERPINI1 SETX SIGMAR1 SIL1 SLC16A2 SLC17A5 SLC18A2 SLC19A3 SLC1A3 SLC20A2 SLC25A4 SLC2A1 SLC30A10 SLC35A1 SLC52A2 SLC52A3 SLC6A1 SLC9A1 SMS SNAP25 SNCA SNCAIP SNORD118 SOD1 SOS1 SOS2 SOX10 SPART SPAST SPEG SPG11 SPG21 SPG7 SPR SPRY4 SPTBN2 SQSTM1 STUB1 SUFU SURF1 SYNE1 SYNJ1 SYT14 TACO1 TACR3 TANGO2 TARDBP TBC1D23 TBC1D24 TBCE TBK1 TBL2 TBP TDP1 TECPR2 TGFBR2 TGM6 THAP1 THPO TIMM8A TK2 TMEM106B TMEM240 TOP3A TOR1A TPP1 TRAPPC11 TREX1 TRIM37 TRNE TRNF TRNH TRNL1 TRNQ TRNS1 TRNS2 TRNW TTBK2 TTC19 TTN TTPA TTR TUBB3 TUBB4A TWNK UBA5 UBB UBQLN2 UROC1 VAMP1 VAPB VCP VLDLR VPS13A VPS13D VWA3B WDR11 WDR73 WDR81 WFS1 WWOX XK XPR1 XRCC1 XRCC4 ZFYVE26 ZNF592

Diseases (471) :648 231550 615889 301310 612674 182410 225154 324588 606703 618170 101109 614487 610246 447760 601162 816 293168 607225 300605 614307 284289 613728 478 614066 208920 481 313200 309271 309263 309256 250100 309510 94122 601238 100984 100 208900 101 314632 513436 306674 606693 617225 602481 71517 614820 601338 128235 302500 905 277900 615268 98755 164400 98761 603516 98756 183090 276241 276244 276238 109150 94147 164500 608768 250950 609195 904 256000 217012 117210 169186 255200 1340 613559 289560 614298 615043 275872 105550 613227 98758 97 108500 183086 458803 616795 211067 613855 314647 614756 488594 616907 423275 616053 615911 1942 618205 614696 608930 601462 608931 3463 204200 256731 397725 615643 603034 98933 227510 607426 550 255241 48818 352582 308 254800 612199 615362 453521 616127 100986 270800 615945 611105 3464 241080 168605 300067 320380 615033 616113 34516 615528 617330 101112 609306 603896 1955 133190 423296 615957 401810 615683 144 220295 216400 401785 615681 277590 171629 612319 610532 617769 260300 98764 609307 15 320406 93256 300623 606159 95 229300 79239 256850 614409 2710 164200 101075 302800 320401 608804 613206 616859 252940 614018 617810 477673 616281 616204 617691 614831 266130 464282 613925 268800 614744 99657 224500 300322 300438 233400 600142 98771 559 618088 208513 606658 117360 71493 606438 37612 972 160120 618284 98768 605259 98772 607346 616398 263516 611726 397946 611302 609541 617284 99027 615838 248500 601104 611390 600 606070 617282 616789 67047 497764 617018 79312 251347 604391 254343 613672 98911 616239 618247 618238 618239 618224 618222 118700 610978 527497 617560 276198 614153 257220 607625 168600 611091 618242 617831 258501 613435 164300 216866 216873 607236 234200 615919 494526 616921 228169 609161 213600 615483 101108 610245 247815 614871 614877 614867 614808 615816 617146 615217 199351 610217 612953 617770 98765 99015 312080 312920 213200 118800 251950 70595 254892 157640 258450 94125 607459 607694 614381 616817 604326 324290 616640 612437 98763 605361 210571 612067 157941 600072 137440 603218 99014 249900 607822 617931 311510 1713 88619 616140 101011 610250 617916 616975 329336 616479 212840 512260 608611 613077 614833 404499 615705 98 270550 159550 254900 614306 521411 604218 606002 248800 300523 604369 352649 618049 607483 612656 71277 53583 601042 606777 309854 613280 603585 97229 616291 309583 616330 168601 614561 275900 100985 602099 2822 604360 248900 99013 607259 612716 352403 600224 616437 617145 412057 618093 615768 617757 610743 615530 284271 614229 616878 612069 617695 605021 496756 617207 616439 607136 320385 615031 613908 98806 602629 304700 254875 617069 617964 98773 607454 618098 128100 284324 609270 615356 247691 192315 253250 2596 98767 604432 615157 96 105210 300570 612438 609286 617133 300857 210128 108600 608627 435387 613954 224050 2388 200150 607317 616948 83472 610185 222300 284282 614322 300842 616413 617633 616541 270700 313772 447753 447757 616586 247604 205100 606353 280763 314978 98760 101006 213700 209951 320391 352641 1175 401866 99771 169500 616680 314603 125310 95433 447896 282166 401830 438114 105400 101000 35689 94124 276193 251282 100996
 

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