Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of higher mental function (HP:0011446)help
Parent Node:
expand
Neurological speech impairment (HP:0002167)help
..Starting node
..expand
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
..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
..expandobsolete Dysphasia (HP:0002357) help
..expandPalilalia (HP:0031814) help
..expandPoor speech (HP:0002465) help
..expandScanning speech (HP:0002168) help
..expandStuttering (HP:0025268) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001260HP:0001260Dysarthria0AAAS CL E G H808613666OMIM:231550Achalasia-Addisonianism-Alacrima syndrome.57
HP:0001260HP:0001260Dysarthria0AARS2 CL E G H5750521022OMIM:615889Leukoencephalopathy, progressive, with ovarian failure.143
HP:0001260HP:0001260Dysarthria0ABCA2 CL E G H2032OMIM:618808INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA; IDPOGSA
HP:0001260HP:0001260Dysarthria0ABCB7 CL E G H2248OMIM:301310Anemia, sideroblastic, and spinocerebellar ataxia.35
HP:0001260HP:0001260Dysarthria0ABCD1 CL E G H21561ORPHA:139399AdrenomyeloneuropathyHP:0040283 - Occasional135
HP:0001260HP:0001260Dysarthria0ABCD1 CL E G H21561ORPHA:139396X-linked cerebral adrenoleukodystrophyHP:0040283 - Occasional135
HP:0001260HP:0001260Dysarthria0ABHD12 CL E G H2609015868OMIM:612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract.50
HP:0001260HP:0001260Dysarthria0ACBD5 CL E G H9145223338OMIM:618863RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD1
HP:0001260HP:0001260Dysarthria0ACTB CL E G H60132OMIM:607371Dystonia, juvenile-onset72
HP:0001260HP:0001260Dysarthria0ADA2 CL E G H518161839OMIM:182410Sneddon syndrome22
HP:0001260HP:0001260Dysarthria0ADAR CL E G H103225ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040282 - Frequent116
HP:0001260HP:0001260Dysarthria0ADCY5 CL E G H111236OMIM:619647DYSKINESIA WITH OROFACIAL INVOLVEMENT, AUTOSOMAL RECESSIVE; DSKOR25
HP:0001260HP:0001260Dysarthria0ADCY5 CL E G H111236OMIM:606703Dyskinesia, familial, with facial myokymia.25
HP:0001260HP:0001260Dysarthria0ADCY5 CL E G H111236ORPHA:324588Familial dyskinesia and facial myokymiaHP:0040282 - Frequent25
HP:0001260HP:0001260Dysarthria0ADD3 CL E G H120245OMIM:617008Cerebral palsy, spastic quadriplegic, 33
HP:0001260HP:0001260Dysarthria0ADGRG1 CL E G H92894512ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040283 - Occasional88
HP:0001260HP:0001260Dysarthria0ADH1C CL E G H126251OMIM:168600Parkinson disease, late-onset.4
HP:0001260HP:0001260Dysarthria0ADPRS CL E G H5493621304OMIM:618170Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures.
HP:0001260HP:0001260Dysarthria0AFG3L2 CL E G H10939315ORPHA:313772Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome86
HP:0001260HP:0001260Dysarthria0AFG3L2 CL E G H10939315OMIM:614487Spastic ataxia 5, autosomal recessive.86
HP:0001260HP:0001260Dysarthria0AFG3L2 CL E G H10939315OMIM:610246Spinocerebellar ataxia 28.86
HP:0001260HP:0001260Dysarthria0AFG3L2 CL E G H10939315ORPHA:101109Spinocerebellar ataxia type 28HP:0040281 - Very frequent86
HP:0001260HP:0001260Dysarthria0ALAD CL E G H210395ORPHA:100924Porphyria due to ALA dehydratase deficiencyHP:0040283 - Occasional62
HP:0001260HP:0001260Dysarthria0ALDH18A1 CL E G H58329722ORPHA:447753Autosomal dominant spastic paraplegia type 9A89
HP:0001260HP:0001260Dysarthria0ALDH18A1 CL E G H58329722ORPHA:447757Autosomal dominant spastic paraplegia type 9B89
HP:0001260HP:0001260Dysarthria0ALDH18A1 CL E G H58329722ORPHA:447760Autosomal recessive spastic paraplegia type 9BHP:0040282 - Frequent89
HP:0001260HP:0001260Dysarthria0ALDH18A1 CL E G H58329722OMIM:601162Spastic paraplegia 9A, autosomal dominant.89
HP:0001260HP:0001260Dysarthria0ALDH18A1 CL E G H58329722OMIM:616586Spastic paraplegia 9B, autosomal recessive.89
HP:0001260HP:0001260Dysarthria0ALDH3A2 CL E G H224403ORPHA:816Sjögren-Larsson syndromeHP:0040282 - Frequent87
HP:0001260HP:0001260Dysarthria0ALS2 CL E G H57679443OMIM:205100Amyotrophic lateral sclerosis 2, juvenile.114
HP:0001260HP:0001260Dysarthria0ALS2 CL E G H57679443ORPHA:293168Infantile-onset ascending hereditary spastic paralysisHP:0040281 - Very frequent114
HP:0001260HP:0001260Dysarthria0ALS2 CL E G H57679443ORPHA:247604Juvenile primary lateral sclerosis114
HP:0001260HP:0001260Dysarthria0ALS2 CL E G H57679443OMIM:606353Primary lateral sclerosis, juvenile114
HP:0001260HP:0001260Dysarthria0ALS2 CL E G H57679443OMIM:607225Spastic paralysis, infantile-onset ascending.114
HP:0001260HP:0001260Dysarthria0AMACR CL E G H23600451OMIM:614307Alpha-methylacyl-CoA racemase deficiency.44
HP:0001260HP:0001260Dysarthria0ANO10 CL E G H5512925519ORPHA:284289Adult-onset autosomal recessive cerebellar ataxiaHP:0040282 - Frequent64
HP:0001260HP:0001260Dysarthria0ANO10 CL E G H5512925519OMIM:613728Spinocerebellar ataxia, autosomal recessive 10.64
HP:0001260HP:0001260Dysarthria0ANOS1 CL E G H37306211ORPHA:478Kallmann syndromeHP:0040283 - Occasional65
HP:0001260HP:0001260Dysarthria0ANXA11 CL E G H311535OMIM:619733INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0001260HP:0001260Dysarthria0AP4B1 CL E G H10717572ORPHA:280763Severe intellectual disability and progressive spastic paraplegia49
HP:0001260HP:0001260Dysarthria0AP4B1 CL E G H10717572OMIM:614066Spastic paraplegia 47, autosomal recessive.49
HP:0001260HP:0001260Dysarthria0AP4E1 CL E G H23431573ORPHA:280763Severe intellectual disability and progressive spastic paraplegia48
HP:0001260HP:0001260Dysarthria0AP4M1 CL E G H9179574ORPHA:280763Severe intellectual disability and progressive spastic paraplegia41
HP:0001260HP:0001260Dysarthria0AP4S1 CL E G H11154575ORPHA:280763Severe intellectual disability and progressive spastic paraplegia18
HP:0001260HP:0001260Dysarthria0APOE CL E G H348613OMIM:607822Alzheimer disease 3.39
HP:0001260HP:0001260Dysarthria0APTX CL E G H5484015984OMIM:208920Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia.61
HP:0001260HP:0001260Dysarthria0AR CL E G H367644ORPHA:481Kennedy diseaseHP:0040281 - Very frequent125
HP:0001260HP:0001260Dysarthria0AR CL E G H367644OMIM:313200Spinal and bulbar muscular atrophy, X-linked 1.125
HP:0001260HP:0001260Dysarthria0ARSA CL E G H410713OMIM:250100Metachromatic leukodystrophy.253
HP:0001260HP:0001260Dysarthria0ARSA CL E G H410713ORPHA:309271Metachromatic leukodystrophy, adult formHP:0040282 - Frequent253
HP:0001260HP:0001260Dysarthria0ARSA CL E G H410713ORPHA:309263Metachromatic leukodystrophy, juvenile formHP:0040282 - Frequent253
HP:0001260HP:0001260Dysarthria0ARSA CL E G H410713ORPHA:309256Metachromatic leukodystrophy, late infantile formHP:0040282 - Frequent253
HP:0001260HP:0001260Dysarthria0ARX CL E G H17030218060OMIM:309510Partington syndrome166
HP:0001260HP:0001260Dysarthria0ARX CL E G H17030218060ORPHA:94083Partington syndromeHP:0040282 - Frequent166
HP:0001260HP:0001260Dysarthria0ATCAY CL E G H85300779OMIM:601238Cerebellar ataxia, Cayman type.72
HP:0001260HP:0001260Dysarthria0ATCAY CL E G H85300779ORPHA:94122Cerebellar ataxia, Cayman typeHP:0040282 - Frequent72
HP:0001260HP:0001260Dysarthria0ATG5 CL E G H9474589OMIM:617584Spinocerebellar ataxia, autosomal recessive 251
HP:0001260HP:0001260Dysarthria0ATG7 CL E G H1053316935OMIM:619422SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR311
HP:0001260HP:0001260Dysarthria0ATL1 CL E G H5106211231ORPHA:100984Autosomal dominant spastic paraplegia type 3HP:0040284 - Very rare71
HP:0001260HP:0001260Dysarthria0ATM CL E G H472795ORPHA:100Ataxia-telangiectasiaHP:0040282 - Frequent3267
HP:0001260HP:0001260Dysarthria0ATM CL E G H472795OMIM:208900ATAXIA-TELANGIECTASIA.3267
HP:0001260HP:0001260Dysarthria0ATN1 CL E G H18223033ORPHA:101Dentatorubral pallidoluysian atrophyHP:0040282 - Frequent16
HP:0001260HP:0001260Dysarthria0ATP13A2 CL E G H2340030213ORPHA:314632ATP13A2-related juvenile neuronal ceroid lipofuscinosisHP:0040283 - Occasional100
HP:0001260HP:0001260Dysarthria0ATP13A2 CL E G H2340030213ORPHA:513436Autosomal recessive spastic paraplegia type 78HP:0040281 - Very frequent100
HP:0001260HP:0001260Dysarthria0ATP13A2 CL E G H2340030213OMIM:606693Kufor-Rakeb syndrome100
HP:0001260HP:0001260Dysarthria0ATP13A2 CL E G H2340030213ORPHA:306674Kufor-Rakeb syndromeHP:0040283 - Occasional100
HP:0001260HP:0001260Dysarthria0ATP13A2 CL E G H2340030213OMIM:617225SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78100
HP:0001260HP:0001260Dysarthria0ATP1A2 CL E G H477800ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional239
HP:0001260HP:0001260Dysarthria0ATP1A2 CL E G H477800ORPHA:569Familial or sporadic hemiplegic migraineHP:0040282 - Frequent239
HP:0001260HP:0001260Dysarthria0ATP1A2 CL E G H477800OMIM:602481Migraine, familial hemiplegic, 2.239
HP:0001260HP:0001260Dysarthria0ATP1A3 CL E G H478801ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional150
HP:0001260HP:0001260Dysarthria0ATP1A3 CL E G H478801OMIM:614820Alternating hemiplegia of childhood 2.150
HP:0001260HP:0001260Dysarthria0ATP1A3 CL E G H478801OMIM:601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss.150
HP:0001260HP:0001260Dysarthria0ATP1A3 CL E G H478801OMIM:128235Dystonia 12.150
HP:0001260HP:0001260Dysarthria0ATP1A3 CL E G H478801ORPHA:71517Rapid-onset dystonia-parkinsonismHP:0040282 - Frequent150
HP:0001260HP:0001260Dysarthria0ATP2B3 CL E G H492816OMIM:302500Spinocerebellar ataxia, X-linked 1.19
HP:0001260HP:0001260Dysarthria0ATP2B3 CL E G H492816ORPHA:314978X-linked non progressive cerebellar ataxia19
HP:0001260HP:0001260Dysarthria0ATP6 CL E G H45087414ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040282 - Frequent
HP:0001260HP:0001260Dysarthria0ATP7B CL E G H540870OMIM:277900Wilson disease.315
HP:0001260HP:0001260Dysarthria0ATP7B CL E G H540870ORPHA:905Wilson diseaseHP:0040281 - Very frequent315
HP:0001260HP:0001260Dysarthria0ATP8A2 CL E G H5176113533OMIM:615268Cerebellar ataxia, mental retardation, and dysequilibrium syndrome4.24
HP:0001260HP:0001260Dysarthria0ATXN1 CL E G H631010548OMIM:164400Spinocerebellar ataxia 1.19
HP:0001260HP:0001260Dysarthria0ATXN1 CL E G H631010548ORPHA:98755Spinocerebellar ataxia type 1HP:0040282 - Frequent19
HP:0001260HP:0001260Dysarthria0ATXN10 CL E G H2581410549OMIM:603516Spinocerebellar ataxia 10.9
HP:0001260HP:0001260Dysarthria0ATXN10 CL E G H2581410549ORPHA:98761Spinocerebellar ataxia type 10HP:0040281 - Very frequent9
HP:0001260HP:0001260Dysarthria0ATXN2 CL E G H631110555OMIM:168600Parkinson disease, late-onset.11
HP:0001260HP:0001260Dysarthria0ATXN2 CL E G H631110555OMIM:183090Spinocerebellar ataxia 2.11
HP:0001260HP:0001260Dysarthria0ATXN2 CL E G H631110555ORPHA:98756Spinocerebellar ataxia type 2HP:0040282 - Frequent11
HP:0001260HP:0001260Dysarthria0ATXN3 CL E G H42877106OMIM:109150Machado-Joseph disease14
HP:0001260HP:0001260Dysarthria0ATXN3 CL E G H42877106ORPHA:276238Machado-Joseph disease type 1HP:0040282 - Frequent14
HP:0001260HP:0001260Dysarthria0ATXN3 CL E G H42877106ORPHA:276241Machado-Joseph disease type 2HP:0040282 - Frequent14
HP:0001260HP:0001260Dysarthria0ATXN3 CL E G H42877106ORPHA:276244Machado-Joseph disease type 3HP:0040282 - Frequent14
HP:0001260HP:0001260Dysarthria0ATXN7 CL E G H631410560OMIM:164500Spinocerebellar ataxia 7 opca III opca with retinal degeneration opca with macular degeneration and external ophthalmoplegia autosomal dominant cerebellar ataxia, type II adca, type II8
HP:0001260HP:0001260Dysarthria0ATXN7 CL E G H631410560ORPHA:94147Spinocerebellar ataxia type 7HP:0040280 - Obligate8
HP:0001260HP:0001260Dysarthria0ATXN8 CL E G H72406632925OMIM:608768Spinocerebellar ataxia 8.1
HP:0001260HP:0001260Dysarthria0ATXN8 CL E G H72406632925ORPHA:98760Spinocerebellar ataxia type 81
HP:0001260HP:0001260Dysarthria0ATXN8OS CL E G H631510561OMIM:168600Parkinson disease, late-onset.1
HP:0001260HP:0001260Dysarthria0ATXN8OS CL E G H631510561OMIM:608768Spinocerebellar ataxia 8.1
HP:0001260HP:0001260Dysarthria0ATXN8OS CL E G H631510561ORPHA:98760Spinocerebellar ataxia type 81
HP:0001260HP:0001260Dysarthria0AUH CL E G H549890OMIM:2509503-methylglutaconic aciduria, type I.49
HP:0001260HP:0001260Dysarthria0B4GALNT1 CL E G H25834117ORPHA:101006Autosomal recessive spastic paraplegia type 2625
HP:0001260HP:0001260Dysarthria0B4GALNT1 CL E G H25834117OMIM:609195Spastic paraplegia 26, autosomal recessive.25
HP:0001260HP:0001260Dysarthria0BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001260HP:0001260Dysarthria0BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001260HP:0001260Dysarthria0BEAN1 CL E G H14622724160OMIM:117210Spinocerebellar ataxia 31.1
HP:0001260HP:0001260Dysarthria0BEAN1 CL E G H14622724160ORPHA:217012Spinocerebellar ataxia type 31HP:0040281 - Very frequent1
HP:0001260HP:0001260Dysarthria0BIN1 CL E G H2741052ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040283 - Occasional99
HP:0001260HP:0001260Dysarthria0BIN1 CL E G H2741052OMIM:255200Myopathy, centronuclear, 2.99
HP:0001260HP:0001260Dysarthria0BMPR1A CL E G H6571076ORPHA:440437Familial colorectal cancer Type XHP:0040283 - Occasional385
HP:0001260HP:0001260Dysarthria0BRAF CL E G H6731097ORPHA:1340Cardiofaciocutaneous syndromeHP:0040283 - Occasional276
HP:0001260HP:0001260Dysarthria0BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001260HP:0001260Dysarthria0C19ORF12 CL E G H8363625443ORPHA:289560Mitochondrial membrane protein-associated neurodegenerationHP:0040281 - Very frequent114
HP:0001260HP:0001260Dysarthria0C19ORF12 CL E G H8363625443OMIM:614298Neurodegeneration with brain iron accumulation 4.114
HP:0001260HP:0001260Dysarthria0C19ORF12 CL E G H8363625443OMIM:615043Spastic paraplegia 43, autosomal recessive.114
HP:0001260HP:0001260Dysarthria0C9ORF72 CL E G H20322828337OMIM:105550Amyotrophic lateral sclerosis and/or frontotemporal dementia 1.56
HP:0001260HP:0001260Dysarthria0C9ORF72 CL E G H20322828337ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040282 - Frequent56
HP:0001260HP:0001260Dysarthria0CA8 CL E G H7671382OMIM:613227Cerebellar ataxia, mental retardation, and dysequilibrium syndrome3.8
HP:0001260HP:0001260Dysarthria0CACNA1A CL E G H7731388ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional449
HP:0001260HP:0001260Dysarthria0CACNA1A CL E G H7731388OMIM:108500Episodic ataxia, type 2.449
HP:0001260HP:0001260Dysarthria0CACNA1A CL E G H7731388ORPHA:569Familial or sporadic hemiplegic migraineHP:0040282 - Frequent449
HP:0001260HP:0001260Dysarthria0CACNA1A CL E G H7731388ORPHA:97Familial paroxysmal ataxiaHP:0040282 - Frequent449
HP:0001260HP:0001260Dysarthria0CACNA1A CL E G H7731388OMIM:183086Spinocerebellar ataxia 6.449
HP:0001260HP:0001260Dysarthria0CACNA1A CL E G H7731388ORPHA:98758Spinocerebellar ataxia type 6HP:0040283 - Occasional449
HP:0001260HP:0001260Dysarthria0CACNA1G CL E G H89131394OMIM:616795Spinocerebellar ataxia 4232
HP:0001260HP:0001260Dysarthria0CACNA1G CL E G H89131394ORPHA:458803Spinocerebellar ataxia type 42HP:0040281 - Very frequent32
HP:0001260HP:0001260Dysarthria0CACNA2D2 CL E G H92541400OMIM:618501Cerebellar atrophy with seizures and variable developmental delay.48
HP:0001260HP:0001260Dysarthria0CACNB4 CL E G H7851404OMIM:607682Epilepsy, idiopathic generalized, susceptibility to, 9146
HP:0001260HP:0001260Dysarthria0CACNB4 CL E G H7851404ORPHA:211067Episodic ataxia type 5HP:0040282 - Frequent146
HP:0001260HP:0001260Dysarthria0CACNB4 CL E G H7851404OMIM:613855Episodic ataxia, type 5.146
HP:0001260HP:0001260Dysarthria0CAMTA1 CL E G H2326118806OMIM:614756Cerebellar ataxia, nonprogressive, with mental retardation.34
HP:0001260HP:0001260Dysarthria0CAMTA1 CL E G H2326118806ORPHA:314647Non-progressive cerebellar ataxia with intellectual disabilityHP:0040282 - Frequent34
HP:0001260HP:0001260Dysarthria0CAPN1 CL E G H8231476ORPHA:488594Autosomal recessive spastic paraplegia type 76HP:0040282 - Frequent4
HP:0001260HP:0001260Dysarthria0CAPN1 CL E G H8231476OMIM:616907SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG764
HP:0001260HP:0001260Dysarthria0CARS1 CL E G H8331493OMIM:618891MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0001260HP:0001260Dysarthria0CARS1 CL E G H8331493ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0001260HP:0001260Dysarthria0CBL CL E G H8671541ORPHA:648Noonan syndromeHP:0040281 - Very frequent317
HP:0001260HP:0001260Dysarthria0CCDC141 CL E G H28502526821ORPHA:478Kallmann syndromeHP:0040283 - Occasional
HP:0001260HP:0001260Dysarthria0CCDC88C CL E G H44019319967OMIM:616053Spinocerebellar ataxia 40.54
HP:0001260HP:0001260Dysarthria0CCDC88C CL E G H44019319967ORPHA:423275Spinocerebellar ataxia type 40HP:0040282 - Frequent54
HP:0001260HP:0001260Dysarthria0CCNF CL E G H8991591OMIM:619141FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 5; FTDALS5
HP:0001260HP:0001260Dysarthria0CERS1 CL E G H1071514253OMIM:616230Epilepsy, progressive myoclonic, 81
HP:0001260HP:0001260Dysarthria0CHAMP1 CL E G H28348920311OMIM:616579Mental retardation, autosomal dominant 4016
HP:0001260HP:0001260Dysarthria0CHCHD10 CL E G H40091615559OMIM:615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2.11
HP:0001260HP:0001260Dysarthria0CHCHD10 CL E G H40091615559ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040282 - Frequent11
HP:0001260HP:0001260Dysarthria0CHD3 CL E G H11071918OMIM:618205Snijders blok-campeau syndrome.2
HP:0001260HP:0001260Dysarthria0CHD7 CL E G H5563620626ORPHA:478Kallmann syndromeHP:0040283 - Occasional515
HP:0001260HP:0001260Dysarthria0CHRNA1 CL E G H11341955OMIM:601462Myasthenic syndrome, congenital, 1A, slow-channel.74
HP:0001260HP:0001260Dysarthria0CHRNA1 CL E G H11341955OMIM:608930Myasthenic syndrome, congenital, 1B, fast-channel.74
HP:0001260HP:0001260Dysarthria0CHRNE CL E G H11451966OMIM:608931Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency.139
HP:0001260HP:0001260Dysarthria0CIITA CL E G H42617067ORPHA:572Immunodeficiency by defective expression of MHC class IIHP:0040284 - Very rare118
HP:0001260HP:0001260Dysarthria0CISD2 CL E G H49385624212ORPHA:3463Wolfram syndromeHP:0040282 - Frequent3
HP:0001260HP:0001260Dysarthria0CLDN11 CL E G H50108514OMIM:619328Leukodystrophy, hypomyelinating, 22
HP:0001260HP:0001260Dysarthria0CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001260HP:0001260Dysarthria0CLN3 CL E G H12012074OMIM:204200Ceroid lipofuscinosis, neuronal, 3.216
HP:0001260HP:0001260Dysarthria0CLN3 CL E G H12012074ORPHA:228346CLN3 disease216
HP:0001260HP:0001260Dysarthria0CLN5 CL E G H12032076OMIM:256731Ceroid lipofuscinosis, neuronal, 5HP:0040283 - Occasional141
HP:0001260HP:0001260Dysarthria0CLPB CL E G H8157030664OMIM:6162713-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia38
HP:0001260HP:0001260Dysarthria0CNOT1 CL E G H230197877OMIM:619033VISSERS-BODMER SYNDROME; VIBOS2
HP:0001260HP:0001260Dysarthria0COA7 CL E G H6526025716OMIM:618387Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3.
HP:0001260HP:0001260Dysarthria0COA8 CL E G H8433420492OMIM:619061MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17; MC4DN17
HP:0001260HP:0001260Dysarthria0COASY CL E G H8034729932ORPHA:397725COASY protein-associated neurodegenerationHP:0040281 - Very frequent16
HP:0001260HP:0001260Dysarthria0COASY CL E G H8034729932OMIM:615643Neurodegeneration with brain iron accumulation 6.16
HP:0001260HP:0001260Dysarthria0COLQ CL E G H82922226OMIM:603034Myasthenic syndrome, congenital, 5.90
HP:0001260HP:0001260Dysarthria0COQ2 CL E G H2723525223OMIM:607426Coenzyme Q10 deficiency, primary, 1.54
HP:0001260HP:0001260Dysarthria0COQ2 CL E G H2723525223OMIM:146500Multiple system atrophy 1, susceptibility to.54
HP:0001260HP:0001260Dysarthria0COQ2 CL E G H2723525223ORPHA:227510Multiple system atrophy, cerebellar typeHP:0040282 - Frequent54
HP:0001260HP:0001260Dysarthria0COQ2 CL E G H2723525223ORPHA:98933Multiple system atrophy, parkinsonian typeHP:0040283 - Occasional54
HP:0001260HP:0001260Dysarthria0COX15 CL E G H13552263ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent104
HP:0001260HP:0001260Dysarthria0COX20 CL E G H11622826970OMIM:619054MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN1125
HP:0001260HP:0001260Dysarthria0CP CL E G H13562295ORPHA:48818AceruloplasminemiaHP:0040282 - Frequent115
HP:0001260HP:0001260Dysarthria0CP CL E G H13562295OMIM:604290ACERULOPLASMINEMIA.115
HP:0001260HP:0001260Dysarthria0CPLX1 CL E G H108152309ORPHA:352582Familial infantile myoclonic epilepsyHP:0040282 - Frequent1
HP:0001260HP:0001260Dysarthria0CSF1R CL E G H14362433OMIM:618476Brain abnormalities, neurodegeneration, and dysosteosclerosis.149
HP:0001260HP:0001260Dysarthria0CSF1R CL E G H14362433OMIM:221820Leukoencephalopathy, diffuse hereditary, with spheroids149
HP:0001260HP:0001260Dysarthria0CSTB CL E G H14762482OMIM:254800Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg).51
HP:0001260HP:0001260Dysarthria0CSTB CL E G H14762482ORPHA:308Progressive myoclonic epilepsy type 1HP:0040282 - Frequent51
HP:0001260HP:0001260Dysarthria0CTC1 CL E G H8016926169OMIM:612199Cerebroretinal microangiopathy with calcifications and cysts.160
HP:0001260HP:0001260Dysarthria0CTSF CL E G H87222531OMIM:615362Ceroid lipofuscinosis, neuronal, 13.20
HP:0001260HP:0001260Dysarthria0CWF19L1 CL E G H5528025613ORPHA:453521Autosomal recessive cerebellar ataxia due to CWF19L1 deficiencyHP:0040282 - Frequent9
HP:0001260HP:0001260Dysarthria0CWF19L1 CL E G H5528025613OMIM:616127Spinocerebellar ataxia, autosomal recessive 17.9
HP:0001260HP:0001260Dysarthria0CYP27A1 CL E G H15932605ORPHA:909Cerebrotendinous xanthomatosisHP:0040282 - Frequent114
HP:0001260HP:0001260Dysarthria0CYP27A1 CL E G H15932605OMIM:213700Cerebrotendinous xanthomatosis114
HP:0001260HP:0001260Dysarthria0CYP7B1 CL E G H94202652ORPHA:100986Autosomal recessive spastic paraplegia type 5AHP:0040284 - Very rare57
HP:0001260HP:0001260Dysarthria0CYP7B1 CL E G H94202652OMIM:270800Spastic paraplegia 5A, autosomal recessive.57
HP:0001260HP:0001260Dysarthria0DAB1 CL E G H16002661OMIM:615945Spinocerebellar ataxia 37.4
HP:0001260HP:0001260Dysarthria0DARS1 CL E G H16152678OMIM:615281HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0001260HP:0001260Dysarthria0DARS2 CL E G H5515725538ORPHA:137898Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndromeHP:0040282 - Frequent60
HP:0001260HP:0001260Dysarthria0DARS2 CL E G H5515725538OMIM:611105Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevationHP:0040283 - Occasional60
HP:0001260HP:0001260Dysarthria0DCAF17 CL E G H8006725784ORPHA:3464Woodhouse-Sakati syndromeHP:0040281 - Very frequent87
HP:0001260HP:0001260Dysarthria0DCAF17 CL E G H8006725784OMIM:241080Woodhouse-Sakati syndrome.87
HP:0001260HP:0001260Dysarthria0DCC CL E G H16302701ORPHA:478Kallmann syndromeHP:0040283 - Occasional36
HP:0001260HP:0001260Dysarthria0DCTN1 CL E G H16392711OMIM:105400Amyotrophic lateral sclerosis 1.86
HP:0001260HP:0001260Dysarthria0DCTN1 CL E G H16392711OMIM:168605Perry syndrome.86
HP:0001260HP:0001260Dysarthria0DCX CL E G H16412714OMIM:300067Lissencephaly, X-linked, 1.145
HP:0001260HP:0001260Dysarthria0DDHD2 CL E G H2325929106ORPHA:320380Autosomal recessive spastic paraplegia type 54HP:0040282 - Frequent29
HP:0001260HP:0001260Dysarthria0DDHD2 CL E G H2325929106OMIM:615033Spastic paraplegia 54, autosomal recessive.29
HP:0001260HP:0001260Dysarthria0DEGS1 CL E G H856013709OMIM:618404Leukodystrophy, hypomyelinating, 18.
HP:0001260HP:0001260Dysarthria0DLAT CL E G H17372896ORPHA:79244Pyruvate dehydrogenase E2 deficiencyHP:0040282 - Frequent82
HP:0001260HP:0001260Dysarthria0DMXL2 CL E G H233122938OMIM:616113Polyendocrine-Polyneuropathy syndrome.3
HP:0001260HP:0001260Dysarthria0DMXL2 CL E G H233122938ORPHA:453533Polyendocrine-polyneuropathy syndromeHP:0040282 - Frequent3
HP:0001260HP:0001260Dysarthria0DNAJB6 CL E G H1004914888ORPHA:34516DNAJB6-related limb-girdle muscular dystrophy D1HP:0040282 - Frequent103
HP:0001260HP:0001260Dysarthria0DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001260HP:0001260Dysarthria0DNAJC6 CL E G H982915469OMIM:615528Parkinson disease 19a, juvenile-onset.6
HP:0001260HP:0001260Dysarthria0DRD3 CL E G H18143024OMIM:190300Tremor, hereditary essential, 1.21
HP:0001260HP:0001260Dysarthria0DUSP6 CL E G H18483072ORPHA:478Kallmann syndromeHP:0040283 - Occasional4
HP:0001260HP:0001260Dysarthria0DYNC1I2 CL E G H17812964OMIM:618492Neurodevelopmental disorder with microcephaly and structural brain anomalies1
HP:0001260HP:0001260Dysarthria0EBF3 CL E G H25373819087OMIM:617330HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS25
HP:0001260HP:0001260Dysarthria0ECHS1 CL E G H18923151ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent33
HP:0001260HP:0001260Dysarthria0EEF2 CL E G H19383214OMIM:609306Spinocerebellar ataxia 26.4
HP:0001260HP:0001260Dysarthria0EEF2 CL E G H19383214ORPHA:101112Spinocerebellar ataxia type 26HP:0040281 - Very frequent4
HP:0001260HP:0001260Dysarthria0EIF2AK1 CL E G H2710224921OMIM:618878LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME; LEMSPAD
HP:0001260HP:0001260Dysarthria0EIF2AK2 CL E G H56109437OMIM:618877LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0001260HP:0001260Dysarthria0EIF2B1 CL E G H19673257OMIM:603896Leukoencephalopathy with vanishing white matter.42
HP:0001260HP:0001260Dysarthria0EIF2B2 CL E G H88923258OMIM:603896Leukoencephalopathy with vanishing white matter.24
HP:0001260HP:0001260Dysarthria0EIF2B3 CL E G H88913259OMIM:603896Leukoencephalopathy with vanishing white matter.32
HP:0001260HP:0001260Dysarthria0EIF2B4 CL E G H88903260OMIM:603896Leukoencephalopathy with vanishing white matter.38
HP:0001260HP:0001260Dysarthria0EIF2B5 CL E G H88933261OMIM:603896Leukoencephalopathy with vanishing white matter.48
HP:0001260HP:0001260Dysarthria0EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001260HP:0001260Dysarthria0ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040283 - Occasional172
HP:0001260HP:0001260Dysarthria0ELOVL1 CL E G H6483414418OMIM:618527Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features.
HP:0001260HP:0001260Dysarthria0ELOVL4 CL E G H678514415OMIM:133190Spinocerebellar ataxia 34.62
HP:0001260HP:0001260Dysarthria0ELOVL4 CL E G H678514415ORPHA:1955Spinocerebellar ataxia type 34HP:0040281 - Very frequent62
HP:0001260HP:0001260Dysarthria0ELOVL5 CL E G H6048121308OMIM:615957Spinocerebellar ataxia 38.4
HP:0001260HP:0001260Dysarthria0ELOVL5 CL E G H6048121308ORPHA:423296Spinocerebellar ataxia type 38HP:0040281 - Very frequent4
HP:0001260HP:0001260Dysarthria0EMC10 CL E G H28436127609OMIM:619264NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES; NEDDFAS
HP:0001260HP:0001260Dysarthria0ENTPD1 CL E G H9533363ORPHA:401810Autosomal recessive spastic paraplegia type 64HP:0040282 - Frequent3
HP:0001260HP:0001260Dysarthria0ENTPD1 CL E G H9533363OMIM:615683Spastic paraplegia 64, autosomal recessive3
HP:0001260HP:0001260Dysarthria0EPCAM CL E G H407211529ORPHA:144Lynch syndromeHP:0040283 - Occasional170
HP:0001260HP:0001260Dysarthria0EPM2A CL E G H79573413ORPHA:501Lafora diseaseHP:0040282 - Frequent83
HP:0001260HP:0001260Dysarthria0EPRS1 CL E G H20583418OMIM:617951Leukodystrophy, hypomyelinating, 15
HP:0001260HP:0001260Dysarthria0ERBB3 CL E G H20653431OMIM:243180Visceral neuropathy, familial, autosomal recessive.12
HP:0001260HP:0001260Dysarthria0ERCC2 CL E G H20683434ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional106
HP:0001260HP:0001260Dysarthria0ERCC2 CL E G H20683434ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complexHP:0040282 - Frequent106
HP:0001260HP:0001260Dysarthria0ERCC3 CL E G H20713435ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional54
HP:0001260HP:0001260Dysarthria0ERCC3 CL E G H20713435ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complexHP:0040282 - Frequent54
HP:0001260HP:0001260Dysarthria0ERCC4 CL E G H20723436ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complexHP:0040282 - Frequent158
HP:0001260HP:0001260Dysarthria0ERCC5 CL E G H20733437ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complexHP:0040282 - Frequent83
HP:0001260HP:0001260Dysarthria0ERCC8 CL E G H11613439OMIM:216400Cockayne syndrome A.55
HP:0001260HP:0001260Dysarthria0ERLIN1 CL E G H1061316947ORPHA:401785Autosomal recessive spastic paraplegia type 62HP:0040282 - Frequent2
HP:0001260HP:0001260Dysarthria0ERLIN1 CL E G H1061316947OMIM:615681Spastic paraplegia 62, autosomal recessive2
HP:0001260HP:0001260Dysarthria0ERLIN2 CL E G H111601356ORPHA:247604Juvenile primary lateral sclerosis18
HP:0001260HP:0001260Dysarthria0EXOSC5 CL E G H5691524662OMIM:619576CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0001260HP:0001260Dysarthria0EZH2 CL E G H21463527OMIM:277590Weaver syndrome.81
HP:0001260HP:0001260Dysarthria0FA2H CL E G H7915221197ORPHA:171629Autosomal recessive spastic paraplegia type 35HP:0040282 - Frequent76
HP:0001260HP:0001260Dysarthria0FA2H CL E G H7915221197ORPHA:329308Fatty acid hydroxylase-associated neurodegenerationHP:0040282 - Frequent76
HP:0001260HP:0001260Dysarthria0FA2H CL E G H7915221197OMIM:612319Spastic paraplegia 35, autosomal recessive.76
HP:0001260HP:0001260Dysarthria0FAN1 CL E G H2290929170ORPHA:144Lynch syndromeHP:0040283 - Occasional15
HP:0001260HP:0001260Dysarthria0FAR1 CL E G H8418826222ORPHA:447753Autosomal dominant spastic paraplegia type 9A7
HP:0001260HP:0001260Dysarthria0FAR1 CL E G H8418826222OMIM:619338CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY; CSPSD7
HP:0001260HP:0001260Dysarthria0FARS2 CL E G H1066721062ORPHA:466722Autosomal recessive spastic paraplegia type 77HP:0040282 - Frequent36
HP:0001260HP:0001260Dysarthria0FAT2 CL E G H21963596OMIM:617769Spinocerebellar ataxia 45.2
HP:0001260HP:0001260Dysarthria0FBLN1 CL E G H21923600ORPHA:404451FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndromeHP:0040282 - Frequent12
HP:0001260HP:0001260Dysarthria0FBXL3 CL E G H2622413599OMIM:606220Intellectual developmental disorder with short stature, facial anomalies, and speech defects.
HP:0001260HP:0001260Dysarthria0FBXO7 CL E G H2579313586OMIM:260300Parkinson disease 15, autosomal recessive early-onset.36
HP:0001260HP:0001260Dysarthria0FEZF1 CL E G H38954922788ORPHA:478Kallmann syndromeHP:0040283 - Occasional2
HP:0001260HP:0001260Dysarthria0FGF14 CL E G H22593671OMIM:193003Nystagmus 4, congenital, autosomal dominant47
HP:0001260HP:0001260Dysarthria0FGF14 CL E G H22593671ORPHA:98764Spinocerebellar ataxia type 27HP:0040281 - Very frequent47
HP:0001260HP:0001260Dysarthria0FGF17 CL E G H88223673ORPHA:478Kallmann syndromeHP:0040283 - Occasional3
HP:0001260HP:0001260Dysarthria0FGF8 CL E G H22533686ORPHA:478Kallmann syndromeHP:0040283 - Occasional17
HP:0001260HP:0001260Dysarthria0FGFR1 CL E G H22603688ORPHA:478Kallmann syndromeHP:0040283 - Occasional172
HP:0001260HP:0001260Dysarthria0FIG4 CL E G H989616873ORPHA:208441Bilateral parasagittal parieto-occipital polymicrogyria111
HP:0001260HP:0001260Dysarthria0FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001260HP:0001260Dysarthria0FLRT1 CL E G H237693760ORPHA:320406Spastic paraplegia-optic atrophy-neuropathy syndromeHP:0040282 - Frequent
HP:0001260HP:0001260Dysarthria0FLRT3 CL E G H237673762ORPHA:478Kallmann syndromeHP:0040283 - Occasional4
HP:0001260HP:0001260Dysarthria0FMR1 CL E G H23323775OMIM:300623Fragile X tremor/ataxia syndrome30
HP:0001260HP:0001260Dysarthria0FMR1 CL E G H23323775ORPHA:93256Fragile X-associated tremor/ataxia syndromeHP:0040281 - Very frequent30
HP:0001260HP:0001260Dysarthria0FOXP2 CL E G H9398613875ORPHA:209908Childhood apraxia of speechHP:0040282 - Frequent143
HP:0001260HP:0001260Dysarthria0FOXRED1 CL E G H5557226927ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent61
HP:0001260HP:0001260Dysarthria0FTL CL E G H25123999OMIM:606159Neurodegeneration with brain iron accumulation 333
HP:0001260HP:0001260Dysarthria0FTL CL E G H25123999ORPHA:157846NeuroferritinopathyHP:0040282 - Frequent33
HP:0001260HP:0001260Dysarthria0FUS CL E G H25214010ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040282 - Frequent105
HP:0001260HP:0001260Dysarthria0FUZ CL E G H8019926219ORPHA:1136Arnold-Chiari malformation type IIHP:0040283 - Occasional3
HP:0001260HP:0001260Dysarthria0FXN CL E G H23953951ORPHA:95Friedreich ataxiaHP:0040281 - Very frequent18
HP:0001260HP:0001260Dysarthria0FXN CL E G H23953951OMIM:229300Friedreich ataxia 1.18
HP:0001260HP:0001260Dysarthria0GALC CL E G H25814115ORPHA:206443Late-infantile/juvenile Krabbe diseaseHP:0040283 - Occasional160
HP:0001260HP:0001260Dysarthria0GALT CL E G H25924135ORPHA:79239Classic galactosemiaHP:0040283 - Occasional351
HP:0001260HP:0001260Dysarthria0GAN CL E G H81394137OMIM:256850Giant axonal neuropathy 1, autosomal recessive.121
HP:0001260HP:0001260Dysarthria0GBA1 CL E G H26294177OMIM:168600Parkinson disease, late-onset.
HP:0001260HP:0001260Dysarthria0GBA2 CL E G H5770418986ORPHA:352641Autosomal recessive cerebellar ataxia with late-onset spasticity30
HP:0001260HP:0001260Dysarthria0GBA2 CL E G H5770418986ORPHA:320391Autosomal recessive spastic paraplegia type 4630
HP:0001260HP:0001260Dysarthria0GBA2 CL E G H5770418986OMIM:614409Spastic paraplegia 46, autosomal recessive.30
HP:0001260HP:0001260Dysarthria0GBF1 CL E G H87294181OMIM:606483Charcot-Marie-Tooth disease, dominant intermediate A
HP:0001260HP:0001260Dysarthria0GCDH CL E G H26394189ORPHA:25Glutaryl-CoA dehydrogenase deficiencyHP:0040282 - Frequent115
HP:0001260HP:0001260Dysarthria0GCH1 CL E G H26434193OMIM:128230Dystonia, DOPA-responsive, with or without hyperphenylalaninemia86
HP:0001260HP:0001260Dysarthria0GCLC CL E G H27294311ORPHA:33574Glutamate-cysteine ligase deficiencyHP:0040283 - Occasional2
HP:0001260HP:0001260Dysarthria0GDAP2 CL E G H5483418010OMIM:618369Spinocerebellar ataxia, autosomal recessive 27.
HP:0001260HP:0001260Dysarthria0GFAP CL E G H26704235OMIM:203450Alexander disease188
HP:0001260HP:0001260Dysarthria0GFAP CL E G H26704235ORPHA:363717Alexander disease type I188
HP:0001260HP:0001260Dysarthria0GFAP CL E G H26704235ORPHA:363722Alexander disease type II188
HP:0001260HP:0001260Dysarthria0GFM2 CL E G H8434029682ORPHA:565624Combined oxidative phosphorylation defect type 39HP:0040283 - Occasional43
HP:0001260HP:0001260Dysarthria0GFM2 CL E G H8434029682OMIM:618397Combined oxidative phosphorylation deficiency 39.43
HP:0001260HP:0001260Dysarthria0GFPT1 CL E G H26734241OMIM:608931Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency.128
HP:0001260HP:0001260Dysarthria0GIPC1 CL E G H107551226ORPHA:98897Oculopharyngodistal myopathy
HP:0001260HP:0001260Dysarthria0GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasiaHP:0040282 - Frequent68
HP:0001260HP:0001260Dysarthria0GJA1 CL E G H26974274OMIM:164200Oculodentodigital dysplasia.68
HP:0001260HP:0001260Dysarthria0GJB1 CL E G H27054283OMIM:302800Charcot-Marie-Tooth neuropathy, X-linked dominant, 1.107
HP:0001260HP:0001260Dysarthria0GJB1 CL E G H27054283ORPHA:101075X-linked Charcot-Marie-Tooth disease type 1HP:0040283 - Occasional107
HP:0001260HP:0001260Dysarthria0GJB1 CL E G H27054283ORPHA:1175X-linked progressive cerebellar ataxia107
HP:0001260HP:0001260Dysarthria0GJC2 CL E G H5716517494ORPHA:320401Autosomal recessive spastic paraplegia type 44HP:0040281 - Very frequent37
HP:0001260HP:0001260Dysarthria0GJC2 CL E G H5716517494OMIM:608804Leukodystrophy, hypomyelinating, 2.37
HP:0001260HP:0001260Dysarthria0GJC2 CL E G H5716517494OMIM:613206Spastic paraplegia 44, autosomal recessive.37
HP:0001260HP:0001260Dysarthria0GLE1 CL E G H27334315OMIM:611890Congenital arthrogryposis with anterior horn cell disease.45
HP:0001260HP:0001260Dysarthria0GLRX5 CL E G H5121820134ORPHA:401866Childhood-onset spasticity with hyperglycinemia17
HP:0001260HP:0001260Dysarthria0GLRX5 CL E G H5121820134OMIM:616859Spasticity, childhood-onset, with hyperglycinemia17
HP:0001260HP:0001260Dysarthria0GLUD2 CL E G H27474336OMIM:168600Parkinson disease, late-onset.1
HP:0001260HP:0001260Dysarthria0GNS CL E G H27994422OMIM:252940Mucopolysaccharidosis, type IIID.69
HP:0001260HP:0001260Dysarthria0GOSR2 CL E G H95704431OMIM:614018Epilepsy, progressive myoclonic, 6.88
HP:0001260HP:0001260Dysarthria0GPAA1 CL E G H87334446OMIM:617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15
HP:0001260HP:0001260Dysarthria0GPAA1 CL E G H87334446ORPHA:529665Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndromeHP:0040282 - Frequent
HP:0001260HP:0001260Dysarthria0GPT2 CL E G H8470618062OMIM:616281Mental retardation, autosomal recessive 49.4
HP:0001260HP:0001260Dysarthria0GPT2 CL E G H8470618062ORPHA:477673Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndromeHP:0040282 - Frequent4
HP:0001260HP:0001260Dysarthria0GRHL3 CL E G H5782225839ORPHA:99771Bifid uvula12
HP:0001260HP:0001260Dysarthria0GRIA1 CL E G H28904571OMIM:6199273
HP:0001260HP:0001260Dysarthria0GRID2 CL E G H28954576OMIM:616204SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR1818
HP:0001260HP:0001260Dysarthria0GRIN2A CL E G H29034585ORPHA:163721Rolandic epilepsy-speech dyspraxia syndromeHP:0040283 - Occasional434
HP:0001260HP:0001260Dysarthria0GRM1 CL E G H29114593OMIM:617691SPINOCEREBELLAR ATAXIA 44; SCA448
HP:0001260HP:0001260Dysarthria0GRM1 CL E G H29114593OMIM:614831SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR138
HP:0001260HP:0001260Dysarthria0GSN CL E G H29344620ORPHA:85448AGel amyloidosisHP:0040283 - Occasional53
HP:0001260HP:0001260Dysarthria0GSS CL E G H29374624OMIM:266130Glutathione synthetase deficiency.39
HP:0001260HP:0001260Dysarthria0GTF2E2 CL E G H29614651ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional2
HP:0001260HP:0001260Dysarthria0GTF2H5 CL E G H40467221157ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0001260HP:0001260Dysarthria0GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0001260HP:0001260Dysarthria0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0001260HP:0001260Dysarthria0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0001260HP:0001260Dysarthria0HACE1 CL E G H5753121033ORPHA:464282Spastic paraplegia-severe developmental delay-epilepsy syndromeHP:0040282 - Frequent10
HP:0001260HP:0001260Dysarthria0HEPACAM CL E G H22029626361OMIM:613925Megalencephalic leukoencephalopathy with subcortical cysts 2A.82
HP:0001260HP:0001260Dysarthria0HEPHL1 CL E G H34120830477OMIM:261990PILI TORTI AND DEVELOPMENTAL DELAY
HP:0001260HP:0001260Dysarthria0HESX1 CL E G H88204877ORPHA:478Kallmann syndromeHP:0040283 - Occasional21
HP:0001260HP:0001260Dysarthria0HEXB CL E G H30744879OMIM:268800Sandhoff disease.80
HP:0001260HP:0001260Dysarthria0HEXB CL E G H30744879ORPHA:309169Sandhoff disease, adult form80
HP:0001260HP:0001260Dysarthria0HEXB CL E G H30744879ORPHA:309162Sandhoff disease, juvenile form80
HP:0001260HP:0001260Dysarthria0HHAT CL E G H5573318270OMIM:600092Nivelon-Nivelon-Mabille syndrome
HP:0001260HP:0001260Dysarthria0HMBS CL E G H31454982ORPHA:79276Acute intermittent porphyria81
HP:0001260HP:0001260Dysarthria0HMGCL CL E G H31555005ORPHA:203-hydroxy-3-methylglutaric aciduriaHP:0040284 - Very rare35
HP:0001260HP:0001260Dysarthria0HOXB1 CL E G H32115111OMIM:614744Facial paresis, hereditary congenital, 3.2
HP:0001260HP:0001260Dysarthria0HPCA CL E G H32085144OMIM:224500Dystonia 2, torsion, autosomal recessive.4
HP:0001260HP:0001260Dysarthria0HPCA CL E G H32085144ORPHA:99657Primary dystonia, DYT2 typeHP:0040282 - Frequent4
HP:0001260HP:0001260Dysarthria0HPRT1 CL E G H32515157OMIM:300322Lesch-Nyhan syndrome.76
HP:0001260HP:0001260Dysarthria0HS6ST1 CL E G H93945201ORPHA:478Kallmann syndromeHP:0040283 - Occasional8
HP:0001260HP:0001260Dysarthria0HSD17B10 CL E G H30284800ORPHA:391428HSD10 disease, infantile typeHP:0040283 - Occasional19
HP:0001260HP:0001260Dysarthria0HSD17B10 CL E G H30284800OMIM:300438HSD10 mitochondrial disease.19
HP:0001260HP:0001260Dysarthria0HSD17B4 CL E G H32955213OMIM:233400Perrault syndrome 1HP:0040283 - Occasional98
HP:0001260HP:0001260Dysarthria0HTRA1 CL E G H56549476OMIM:600142Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL).34
HP:0001260HP:0001260Dysarthria0HTRA1 CL E G H56549476ORPHA:199354Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy34
HP:0001260HP:0001260Dysarthria0HYCC1 CL E G H8466824587OMIM:610532Leukodystrophy, hypomyelinating, 5.
HP:0001260HP:0001260Dysarthria0IFRD1 CL E G H34755456ORPHA:98771Spinocerebellar ataxia type 18HP:0040282 - Frequent1
HP:0001260HP:0001260Dysarthria0IL17RD CL E G H5475617616ORPHA:478Kallmann syndromeHP:0040283 - Occasional9
HP:0001260HP:0001260Dysarthria0INPP5K CL E G H5176333882ORPHA:559Marinesco-Sjögren syndromeHP:0040281 - Very frequent7
HP:0001260HP:0001260Dysarthria0IRF2BPL CL E G H6420714282OMIM:618088Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures.
HP:0001260HP:0001260Dysarthria0ITPR1 CL E G H37086180OMIM:606658Spinocerebellar ataxia 15.177
HP:0001260HP:0001260Dysarthria0ITPR1 CL E G H37086180OMIM:117360Spinocerebellar ataxia 29.177
HP:0001260HP:0001260Dysarthria0ITPR1 CL E G H37086180ORPHA:208513Spinocerebellar ataxia type 29HP:0040281 - Very frequent177
HP:0001260HP:0001260Dysarthria0JAK2 CL E G H37176192ORPHA:71493Familial thrombocytosisHP:0040283 - Occasional57
HP:0001260HP:0001260Dysarthria0JAM2 CL E G H5849414686OMIM:618824BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8
HP:0001260HP:0001260Dysarthria0JPH3 CL E G H5733814203OMIM:606438Huntington disease-like 2.2
HP:0001260HP:0001260Dysarthria0KCNA1 CL E G H37366218ORPHA:37612Episodic ataxia type 1HP:0040282 - Frequent145
HP:0001260HP:0001260Dysarthria0KCNA1 CL E G H37366218OMIM:160120Episodic ataxia, type 1.145
HP:0001260HP:0001260Dysarthria0KCNA1 CL E G H37366218ORPHA:972Hereditary continuous muscle fiber activityHP:0040282 - Frequent145
HP:0001260HP:0001260Dysarthria0KCNA4 CL E G H37396222OMIM:618284Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum.
HP:0001260HP:0001260Dysarthria0KCNC3 CL E G H37486235OMIM:605259Spinocerebellar ataxia 13.17
HP:0001260HP:0001260Dysarthria0KCNC3 CL E G H37486235ORPHA:98768Spinocerebellar ataxia type 13HP:0040282 - Frequent17
HP:0001260HP:0001260Dysarthria0KCND3 CL E G H37526239OMIM:607346Spinocerebellar ataxia 19.35
HP:0001260HP:0001260Dysarthria0KCND3 CL E G H37526239ORPHA:98772Spinocerebellar ataxia type 19/22HP:0040283 - Occasional35
HP:0001260HP:0001260Dysarthria0KCTD17 CL E G H7973425705OMIM:616398Dystonia 26, myoclonic.1
HP:0001260HP:0001260Dysarthria0KCTD7 CL E G H15488121957OMIM:611726Epilepsy, progressive myoclonic 3, with or without intracellular inclusions106
HP:0001260HP:0001260Dysarthria0KCTD7 CL E G H15488121957ORPHA:263516Progressive myoclonic epilepsy type 3HP:0040282 - Frequent106
HP:0001260HP:0001260Dysarthria0KDM6A CL E G H740312637OMIM:147920Kabuki syndrome 153
HP:0001260HP:0001260Dysarthria0KIF1C CL E G H107496317ORPHA:397946Autosomal spastic paraplegia type 58HP:0040281 - Very frequent38
HP:0001260HP:0001260Dysarthria0KIF1C CL E G H107496317OMIM:611302Spastic ataxia 2, autosomal recessive.38
HP:0001260HP:0001260Dysarthria0KLC2 CL E G H6483720716OMIM:609541Spastic paraplegia, optic atrophy, and neuropathy.1
HP:0001260HP:0001260Dysarthria0KLC2 CL E G H6483720716ORPHA:320406Spastic paraplegia-optic atrophy-neuropathy syndromeHP:0040282 - Frequent1
HP:0001260HP:0001260Dysarthria0KMT2B CL E G H975715840ORPHA:589618Dystonia 2811
HP:0001260HP:0001260Dysarthria0KMT2B CL E G H975715840OMIM:617284Dystonia 28, childhood-onset.11
HP:0001260HP:0001260Dysarthria0KMT2D CL E G H80857133OMIM:147920Kabuki syndrome 1660
HP:0001260HP:0001260Dysarthria0KRAS CL E G H38456407ORPHA:1340Cardiofaciocutaneous syndromeHP:0040283 - Occasional196
HP:0001260HP:0001260Dysarthria0KRAS CL E G H38456407ORPHA:144Lynch syndromeHP:0040283 - Occasional196
HP:0001260HP:0001260Dysarthria0KRAS CL E G H38456407ORPHA:648Noonan syndromeHP:0040281 - Very frequent196
HP:0001260HP:0001260Dysarthria0LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001260HP:0001260Dysarthria0LIPT1 CL E G H5160129569ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent21
HP:0001260HP:0001260Dysarthria0LMNB1 CL E G H40016637ORPHA:99027Adult-onset autosomal dominant leukodystrophyHP:0040283 - Occasional44
HP:0001260HP:0001260Dysarthria0LMNB1 CL E G H40016637OMIM:169500Leukodystrophy, adult-onset, autosomal dominant44
HP:0001260HP:0001260Dysarthria0LRP12 CL E G H2996731708OMIM:164310Oculopharyngodistal myopathy 1
HP:0001260HP:0001260Dysarthria0LYRM7 CL E G H9062428072OMIM:615838Mitochondrial complex III deficiency, nuclear type 8.10
HP:0001260HP:0001260Dysarthria0LZTR1 CL E G H82166742ORPHA:648Noonan syndromeHP:0040281 - Very frequent43
HP:0001260HP:0001260Dysarthria0MAG CL E G H40996783OMIM:616680Spastic paraplegia 75, autosomal recessive4
HP:0001260HP:0001260Dysarthria0MAN2B1 CL E G H41256826OMIM:248500Alpha-mannosidosis.136
HP:0001260HP:0001260Dysarthria0MAP2K1 CL E G H56046840ORPHA:1340Cardiofaciocutaneous syndromeHP:0040283 - Occasional134
HP:0001260HP:0001260Dysarthria0MAP2K2 CL E G H56056842ORPHA:1340Cardiofaciocutaneous syndromeHP:0040283 - Occasional178
HP:0001260HP:0001260Dysarthria0MAPT CL E G H41376893ORPHA:240071Classic progressive supranuclear palsy syndromeHP:0040282 - Frequent140
HP:0001260HP:0001260Dysarthria0MAPT CL E G H41376893OMIM:168600Parkinson disease, late-onset.140
HP:0001260HP:0001260Dysarthria0MAPT CL E G H41376893ORPHA:240103Progressive supranuclear palsy-corticobasal syndromeHP:0040282 - Frequent140
HP:0001260HP:0001260Dysarthria0MAPT CL E G H41376893ORPHA:240094Progressive supranuclear palsy-pure akinesia with gait freezing syndrome140
HP:0001260HP:0001260Dysarthria0MAPT CL E G H41376893OMIM:601104Supranuclear palsy, progressive, 1.140
HP:0001260HP:0001260Dysarthria0MARS2 CL E G H9293525133ORPHA:314603Autosomal recessive spastic ataxia with leukoencephalopathy25
HP:0001260HP:0001260Dysarthria0MARS2 CL E G H9293525133OMIM:611390Spastic ataxia 3, autosomal recessive25
HP:0001260HP:0001260Dysarthria0MATR3 CL E G H97826912OMIM:606070Amyotrophic lateral sclerosis 21.80
HP:0001260HP:0001260Dysarthria0MATR3 CL E G H97826912ORPHA:600Vocal cord and pharyngeal distal myopathyHP:0040282 - Frequent80
HP:0001260HP:0001260Dysarthria0MECR CL E G H5110219691OMIM:617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities.6
HP:0001260HP:0001260Dysarthria0MECR CL E G H5110219691ORPHA:508093MEPAN syndrome6
HP:0001260HP:0001260Dysarthria0MED13L CL E G H2338922962OMIM:616789Mental retardation and distinctive facial features with or without cardiac defects74
HP:0001260HP:0001260Dysarthria0METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0001260HP:0001260Dysarthria0MICOS13 CL E G H12598833702ORPHA:670473-methylglutaconic aciduria type 3HP:0040282 - Frequent
HP:0001260HP:0001260Dysarthria0MKS1 CL E G H549037121OMIM:617121JOUBERT SYNDROME 28; JBTS28127
HP:0001260HP:0001260Dysarthria0MLH1 CL E G H42927127ORPHA:144Lynch syndromeHP:0040283 - Occasional1819
HP:0001260HP:0001260Dysarthria0MLH3 CL E G H270307128ORPHA:144Lynch syndromeHP:0040283 - Occasional131
HP:0001260HP:0001260Dysarthria0MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0001260HP:0001260Dysarthria0MME CL E G H43117154OMIM:617018SPINOCEREBELLAR ATAXIA 43; SCA4318
HP:0001260HP:0001260Dysarthria0MME CL E G H43117154ORPHA:497764Spinocerebellar ataxia type 43HP:0040282 - Frequent18
HP:0001260HP:0001260Dysarthria0MMUT CL E G H45947526ORPHA:79312Vitamin B12-unresponsive methylmalonic acidemia type mut-HP:0040282 - Frequent
HP:0001260HP:0001260Dysarthria0MPL CL E G H43527217ORPHA:71493Familial thrombocytosisHP:0040283 - Occasional97
HP:0001260HP:0001260Dysarthria0MPLKIP CL E G H13664716002ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional9
HP:0001260HP:0001260Dysarthria0MRAS CL E G H228087227ORPHA:648Noonan syndromeHP:0040281 - Very frequent
HP:0001260HP:0001260Dysarthria0MRE11 CL E G H43617230ORPHA:251347Ataxia-telangiectasia-like disorderHP:0040282 - Frequent532
HP:0001260HP:0001260Dysarthria0MRE11 CL E G H43617230OMIM:604391Ataxia-Telangiectasia-Like disorder 1.532
HP:0001260HP:0001260Dysarthria0MSH2 CL E G H44367325ORPHA:144Lynch syndromeHP:0040283 - Occasional2162
HP:0001260HP:0001260Dysarthria0MSH6 CL E G H29567329ORPHA:144Lynch syndromeHP:0040283 - Occasional2232
HP:0001260HP:0001260Dysarthria0MTFMT CL E G H12326329666ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent29
HP:0001260HP:0001260Dysarthria0MTPAP CL E G H5514925532ORPHA:254343Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndromeHP:0040281 - Very frequent19
HP:0001260HP:0001260Dysarthria0MTPAP CL E G H5514925532OMIM:613672Spastic ataxia 4, autosomal recessive.19
HP:0001260HP:0001260Dysarthria0MTRFR CL E G H9157426784ORPHA:254930Combined oxidative phosphorylation defect type 7HP:0040283 - Occasional
HP:0001260HP:0001260Dysarthria0MTRFR CL E G H9157426784OMIM:613559Combined oxidative phosphorylation deficiency 7.
HP:0001260HP:0001260Dysarthria0MTTP CL E G H45477467ORPHA:14AbetalipoproteinemiaHP:0040283 - Occasional81
HP:0001260HP:0001260Dysarthria0MVK CL E G H45987530OMIM:610377Mevalonic aciduria150
HP:0001260HP:0001260Dysarthria0MYORG CL E G H5746219918OMIM:618317Basal ganglia calcification, idiopathic, 7, autosomal recessive.
HP:0001260HP:0001260Dysarthria0MYOT CL E G H949912399ORPHA:98911Distal myotilinopathyHP:0040282 - Frequent75
HP:0001260HP:0001260Dysarthria0NARS2 CL E G H7973126274OMIM:616239Combined oxidative phosphorylation deficiency 24HP:0040283 - Occasional34
HP:0001260HP:0001260Dysarthria0NAXE CL E G H12824018453OMIM:617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 19
HP:0001260HP:0001260Dysarthria0NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040283 - Occasional13
HP:0001260HP:0001260Dysarthria0NDNF CL E G H7962526256ORPHA:478Kallmann syndromeHP:0040283 - Occasional
HP:0001260HP:0001260Dysarthria0NDUFA10 CL E G H47057684ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent91
HP:0001260HP:0001260Dysarthria0NDUFA12 CL E G H5596723987ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent7
HP:0001260HP:0001260Dysarthria0NDUFA13 CL E G H5107917194ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent3
HP:0001260HP:0001260Dysarthria0NDUFA2 CL E G H46957685ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent19
HP:0001260HP:0001260Dysarthria0NDUFA4 CL E G H46977687ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent4
HP:0001260HP:0001260Dysarthria0NDUFA6 CL E G H47007690OMIM:618253Mitochondrial complex I deficiency, nuclear type 331
HP:0001260HP:0001260Dysarthria0NDUFA9 CL E G H47047693ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent27
HP:0001260HP:0001260Dysarthria0NDUFA9 CL E G H47047693OMIM:618247Mitochondrial complex I deficiency, nuclear type 26.27
HP:0001260HP:0001260Dysarthria0NDUFAF2 CL E G H9194228086ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent26
HP:0001260HP:0001260Dysarthria0NDUFAF5 CL E G H7913315899ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent34
HP:0001260HP:0001260Dysarthria0NDUFAF5 CL E G H7913315899OMIM:618238Mitochondrial complex I deficiency, nuclear type 1634
HP:0001260HP:0001260Dysarthria0NDUFAF6 CL E G H13768228625ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent39
HP:0001260HP:0001260Dysarthria0NDUFAF6 CL E G H13768228625OMIM:618239Mitochondrial complex I deficiency, nuclear type 17.39
HP:0001260HP:0001260Dysarthria0NDUFS1 CL E G H47197707ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent81
HP:0001260HP:0001260Dysarthria0NDUFS2 CL E G H47207708ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent65
HP:0001260HP:0001260Dysarthria0NDUFS3 CL E G H47227710ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent22
HP:0001260HP:0001260Dysarthria0NDUFS4 CL E G H47247711ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent27
HP:0001260HP:0001260Dysarthria0NDUFS7 CL E G H3742917714ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent38
HP:0001260HP:0001260Dysarthria0NDUFS7 CL E G H3742917714OMIM:618224Mitochondrial complex I deficiency, nuclear type 3.38
HP:0001260HP:0001260Dysarthria0NDUFS8 CL E G H47287715ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent42
HP:0001260HP:0001260Dysarthria0NDUFS8 CL E G H47287715OMIM:618222Mitochondrial complex I deficiency, nuclear type 2.42
HP:0001260HP:0001260Dysarthria0NDUFV1 CL E G H47237716ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent74
HP:0001260HP:0001260Dysarthria0NDUFV2 CL E G H47297717ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent27
HP:0001260HP:0001260Dysarthria0NEB CL E G H47037720OMIM:256030Nemaline myopathy 2, autosomal recessive745
HP:0001260HP:0001260Dysarthria0NEFH CL E G H47447737OMIM:105400Amyotrophic lateral sclerosis 1.24
HP:0001260HP:0001260Dysarthria0NEFL CL E G H47477739ORPHA:101085Charcot-Marie-Tooth disease type 1FHP:0040283 - Occasional118
HP:0001260HP:0001260Dysarthria0NEK1 CL E G H47507744OMIM:617892Amyotrophic lateral sclerosis, susceptibility to, 24.101
HP:0001260HP:0001260Dysarthria0NF2 CL E G H47717773ORPHA:637Neurofibromatosis type 2HP:0040283 - Occasional220
HP:0001260HP:0001260Dysarthria0NFASC CL E G H2311429866OMIM:618356Neurodevelopmental disorder with central and peripheral motor dysfunction.
HP:0001260HP:0001260Dysarthria0NHLRC1 CL E G H37888421576ORPHA:501Lafora diseaseHP:0040282 - Frequent77
HP:0001260HP:0001260Dysarthria0NKX2-1 CL E G H708011825ORPHA:209905Brain-lung-thyroid syndromeHP:0040283 - Occasional51
HP:0001260HP:0001260Dysarthria0NKX2-1 CL E G H708011825OMIM:118700Chorea, benign hereditaryHP:0040283 - Occasional51
HP:0001260HP:0001260Dysarthria0NKX2-1 CL E G H708011825OMIM:610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress51
HP:0001260HP:0001260Dysarthria0NKX6-2 CL E G H8450419321ORPHA:527497NKX6-2-related autosomal recessive hypomyelinating leukodystrophyHP:0040282 - Frequent2
HP:0001260HP:0001260Dysarthria0NKX6-2 CL E G H8450419321OMIM:617560Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy.2
HP:0001260HP:0001260Dysarthria0NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndrome10
HP:0001260HP:0001260Dysarthria0NOP56 CL E G H1052815911OMIM:614153Spinocerebellar ataxia 369
HP:0001260HP:0001260Dysarthria0NOP56 CL E G H1052815911ORPHA:276198Spinocerebellar ataxia type 36HP:0040281 - Very frequent9
HP:0001260HP:0001260Dysarthria0NOTCH2NLC CL E G H10099671753924OMIM:603472NEURONAL INTRANUCLEAR INCLUSION DISEASE
HP:0001260HP:0001260Dysarthria0NOTCH2NLC CL E G H10099671753924ORPHA:2289Neuronal intranuclear inclusion diseaseHP:0040281 - Very frequent
HP:0001260HP:0001260Dysarthria0NOTCH2NLC CL E G H10099671753924ORPHA:98897Oculopharyngodistal myopathy
HP:0001260HP:0001260Dysarthria0NOTCH2NLC CL E G H10099671753924OMIM:619473OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0001260HP:0001260Dysarthria0NOTCH3 CL E G H48547883OMIM:125310Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy144
HP:0001260HP:0001260Dysarthria0NOTCH3 CL E G H48547883ORPHA:136Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathyHP:0040283 - Occasional144
HP:0001260HP:0001260Dysarthria0NPC1 CL E G H48647897OMIM:257220Niemann-pick disease, type C1.258
HP:0001260HP:0001260Dysarthria0NPC2 CL E G H1057714537OMIM:607625Niemann-pick disease, type C2.33
HP:0001260HP:0001260Dysarthria0NPPA CL E G H48787939ORPHA:1344Atrial standstillHP:0040283 - Occasional13
HP:0001260HP:0001260Dysarthria0NR4A2 CL E G H49297981OMIM:168600Parkinson disease, late-onset.27
HP:0001260HP:0001260Dysarthria0NRAS CL E G H48937989ORPHA:648Noonan syndromeHP:0040281 - Very frequent102
HP:0001260HP:0001260Dysarthria0NSUN2 CL E G H5488825994OMIM:611091Mental retardation, autosomal recessive 5.84
HP:0001260HP:0001260Dysarthria0NUBPL CL E G H8022420278OMIM:618242Mitochondrial complex I deficiency, nuclear type 21.89
HP:0001260HP:0001260Dysarthria0NUP62 CL E G H236368066ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040282 - Frequent7
HP:0001260HP:0001260Dysarthria0NUS1 CL E G H11615021042OMIM:617831MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES; MRD551
HP:0001260HP:0001260Dysarthria0NUTM2B-AS1 CL E G H10106069151204OMIM:618637OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1; OPML1
HP:0001260HP:0001260Dysarthria0OPA1 CL E G H49768140OMIM:210000Behr syndrome214
HP:0001260HP:0001260Dysarthria0OPA3 CL E G H802078142ORPHA:670473-methylglutaconic aciduria type 3HP:0040282 - Frequent163
HP:0001260HP:0001260Dysarthria0OPA3 CL E G H802078142OMIM:2585013-methylglutaconic aciduria, type III.163
HP:0001260HP:0001260Dysarthria0OPTN CL E G H1013317142OMIM:613435Amyotrophic lateral sclerosis 12.62
HP:0001260HP:0001260Dysarthria0PABPN1 CL E G H81068565OMIM:164300Oculopharyngeal muscular dystrophy.10
HP:0001260HP:0001260Dysarthria0PACS1 CL E G H5569030032ORPHA:329224Intellectual disability-craniofacial dysmorphism-cryptorchidism syndromeHP:0040283 - Occasional24
HP:0001260HP:0001260Dysarthria0PANK2 CL E G H8002515894ORPHA:216873Atypical pantothenate kinase-associated neurodegenerationHP:0040282 - Frequent55
HP:0001260HP:0001260Dysarthria0PANK2 CL E G H8002515894ORPHA:216866Classic pantothenate kinase-associated neurodegenerationHP:0040282 - Frequent55
HP:0001260HP:0001260Dysarthria0PANK2 CL E G H8002515894OMIM:607236Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration.55
HP:0001260HP:0001260Dysarthria0PANK2 CL E G H8002515894OMIM:234200Neurodegeneration with brain iron accumulation 1.55
HP:0001260HP:0001260Dysarthria0PCGF2 CL E G H770312929OMIM:618371Turnpenny-Fry syndrome.
HP:0001260HP:0001260Dysarthria0PCNA CL E G H51118729OMIM:615919Ataxia-Telangiectasia-Like disorder 2.1
HP:0001260HP:0001260Dysarthria0PDE10A CL E G H108468772OMIM:616921Dyskinesia, limb and orofacial, infantile-onset5
HP:0001260HP:0001260Dysarthria0PDE10A CL E G H108468772ORPHA:494526Infantile-onset generalized dyskinesia with orofacial involvementHP:0040282 - Frequent5
HP:0001260HP:0001260Dysarthria0PDE8B CL E G H86228794ORPHA:228169Autosomal dominant striatal neurodegenerationHP:0040281 - Very frequent75
HP:0001260HP:0001260Dysarthria0PDE8B CL E G H86228794OMIM:609161Striatal degeneration, autosomal dominant.75
HP:0001260HP:0001260Dysarthria0PDGFB CL E G H51558800OMIM:213600Basal ganglia calcification, idiopathic, 1.9
HP:0001260HP:0001260Dysarthria0PDGFB CL E G H51558800OMIM:615483Basal ganglia calcification, idiopathic, 5.9
HP:0001260HP:0001260Dysarthria0PDGFRB CL E G H51598804OMIM:213600Basal ganglia calcification, idiopathic, 1.28
HP:0001260HP:0001260Dysarthria0PDHA1 CL E G H51608806ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent88
HP:0001260HP:0001260Dysarthria0PDYN CL E G H51738820OMIM:610245Spinocerebellar ataxia 23.52
HP:0001260HP:0001260Dysarthria0PDYN CL E G H51738820ORPHA:101108Spinocerebellar ataxia type 23HP:0040282 - Frequent52
HP:0001260HP:0001260Dysarthria0PET100 CL E G H10013180140038ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent6
HP:0001260HP:0001260Dysarthria0PEX10 CL E G H51928851ORPHA:247815Autosomal recessive ataxia due to PEX10 deficiencyHP:0040282 - Frequent75
HP:0001260HP:0001260Dysarthria0PEX10 CL E G H51928851OMIM:614871Peroxisome biogenesis disorder 6B.75
HP:0001260HP:0001260Dysarthria0PEX16 CL E G H94098857OMIM:614877Peroxisome biogenesis disorder 8B.59
HP:0001260HP:0001260Dysarthria0PEX2 CL E G H58289717OMIM:614867Peroxisome biogenesis disorder 5B.82
HP:0001260HP:0001260Dysarthria0PEX6 CL E G H51908859ORPHA:95433Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome98
HP:0001260HP:0001260Dysarthria0PFN1 CL E G H52168881OMIM:614808AMYOTROPHIC LATERAL SCLEROSIS 18; ALS186
HP:0001260HP:0001260Dysarthria0PGM3 CL E G H52388907OMIM:615816Immunodeficiency 2315
HP:0001260HP:0001260Dysarthria0PGM3 CL E G H52388907ORPHA:443811PGM3-CDGHP:0040283 - Occasional15
HP:0001260HP:0001260Dysarthria0PI4KA CL E G H52978983ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040283 - Occasional11
HP:0001260HP:0001260Dysarthria0PIEZO2 CL E G H6389526270OMIM:617146Arthrogryposis, distal, with impaired proprioception and touch77
HP:0001260HP:0001260Dysarthria0PIK3CA CL E G H52908975ORPHA:144Lynch syndromeHP:0040283 - Occasional162
HP:0001260HP:0001260Dysarthria0PIK3R5 CL E G H2353330035OMIM:615217Ataxia-Oculomotor apraxia 3.11
HP:0001260HP:0001260Dysarthria0PLA2G6 CL E G H83989039ORPHA:199351Adult-onset dystonia-parkinsonismHP:0040282 - Frequent133
HP:0001260HP:0001260Dysarthria0PLA2G6 CL E G H83989039ORPHA:35069Infantile neuroaxonal dystrophyHP:0040283 - Occasional133
HP:0001260HP:0001260Dysarthria0PLA2G6 CL E G H83989039OMIM:610217Neurodegeneration with brain iron accumulation 2B.133
HP:0001260HP:0001260Dysarthria0PLA2G6 CL E G H83989039OMIM:612953Parkinson disease 14, autosomal recessive.133
HP:0001260HP:0001260Dysarthria0PLD3 CL E G H2364617158OMIM:617770Spinocerebellar ataxia 46.2
HP:0001260HP:0001260Dysarthria0PLEKHG4 CL E G H2589424501ORPHA:98765Spinocerebellar ataxia type 4HP:0040282 - Frequent4
HP:0001260HP:0001260Dysarthria0PLP1 CL E G H53549086OMIM:312080Pelizaeus-Merzbacher disease60
HP:0001260HP:0001260Dysarthria0PLP1 CL E G H53549086ORPHA:280210Pelizaeus-Merzbacher disease, connatal formHP:0040282 - Frequent60
HP:0001260HP:0001260Dysarthria0PLP1 CL E G H53549086OMIM:312920Spastic paraplegia 2, X-linked.60
HP:0001260HP:0001260Dysarthria0PLP1 CL E G H53549086ORPHA:99015Spastic paraplegia type 2HP:0040283 - Occasional60
HP:0001260HP:0001260Dysarthria0PMM2 CL E G H53739115OMIM:212065Congenital disorder of glycosylation, type Ia150
HP:0001260HP:0001260Dysarthria0PMPCA CL E G H2320318667ORPHA:1170Autosomal recessive cerebelloparenchymal disorder type 3HP:0040281 - Very frequent7
HP:0001260HP:0001260Dysarthria0PMPCA CL E G H2320318667OMIM:213200Spinocerebellar ataxia, autosomal recessive 2.7
HP:0001260HP:0001260Dysarthria0PMS1 CL E G H53789121ORPHA:144Lynch syndromeHP:0040283 - Occasional56
HP:0001260HP:0001260Dysarthria0PMS2 CL E G H53959122ORPHA:144Lynch syndromeHP:0040283 - Occasional1121
HP:0001260HP:0001260Dysarthria0PNKD CL E G H259539153OMIM:118800Paroxysmal nonkinesigenic dyskinesia 1.66
HP:0001260HP:0001260Dysarthria0PNKP CL E G H112849154ORPHA:459033Ataxia-oculomotor apraxia type 4HP:0040283 - Occasional244
HP:0001260HP:0001260Dysarthria0PNPLA8 CL E G H5064028900OMIM:251950Mitochondrial myopathy with lactic acidosis.3
HP:0001260HP:0001260Dysarthria0PNPT1 CL E G H8717823166OMIM:608703Spinocerebellar ataxia 25.60
HP:0001260HP:0001260Dysarthria0PNPT1 CL E G H8717823166ORPHA:101111Spinocerebellar ataxia type 2560
HP:0001260HP:0001260Dysarthria0POLG CL E G H54289179ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional464
HP:0001260HP:0001260Dysarthria0POLG CL E G H54289179OMIM:157640Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1.464
HP:0001260HP:0001260Dysarthria0POLG CL E G H54289179OMIM:258450Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive.464
HP:0001260HP:0001260Dysarthria0POLG CL E G H54289179ORPHA:94125Recessive mitochondrial ataxia syndromeHP:0040283 - Occasional464
HP:0001260HP:0001260Dysarthria0POLG CL E G H54289179OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis464
HP:0001260HP:0001260Dysarthria0POLG CL E G H54289179ORPHA:70595Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndromeHP:0040282 - Frequent464
HP:0001260HP:0001260Dysarthria0POLG2 CL E G H112329180ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional45
HP:0001260HP:0001260Dysarthria0POLR3A CL E G H1112830074OMIM:607694Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism.138
HP:0001260HP:0001260Dysarthria0POLR3A CL E G H1112830074ORPHA:447896Tremor-ataxia-central hypomyelination syndrome138
HP:0001260HP:0001260Dysarthria0POLR3B CL E G H5570330348OMIM:619742CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I67
HP:0001260HP:0001260Dysarthria0POLR3B CL E G H5570330348OMIM:607694Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism.67
HP:0001260HP:0001260Dysarthria0POLR3B CL E G H5570330348OMIM:614381Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism.67
HP:0001260HP:0001260Dysarthria0POLR3GL CL E G H8426528466OMIM:619234SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0001260HP:0001260Dysarthria0POU4F1 CL E G H54579218OMIM:619352ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET; ATITHS
HP:0001260HP:0001260Dysarthria0POU4F1 CL E G H54579218ORPHA:314647Non-progressive cerebellar ataxia with intellectual disabilityHP:0040282 - Frequent
HP:0001260HP:0001260Dysarthria0PPP1R15B CL E G H8491914951OMIM:616817Microcephaly, short stature, and impaired glucose metabolism 22
HP:0001260HP:0001260Dysarthria0PPP1R21 CL E G H12928530595OMIM:619383NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0001260HP:0001260Dysarthria0PPP2R2B CL E G H55219305OMIM:604326Spinocerebellar ataxia 12.5
HP:0001260HP:0001260Dysarthria0PRDM8 CL E G H5697813993ORPHA:324290Early-onset Lafora body diseaseHP:0040282 - Frequent1
HP:0001260HP:0001260Dysarthria0PRDM8 CL E G H5697813993OMIM:616640Epilepsy, progressive myoclonic, 101
HP:0001260HP:0001260Dysarthria0PRDX3 CL E G H109359354OMIM:619862
HP:0001260HP:0001260Dysarthria0PRICKLE1 CL E G H14416517019OMIM:612437Epilepsy, progressive myoclonic 1B.133
HP:0001260HP:0001260Dysarthria0PRICKLE1 CL E G H14416517019ORPHA:308Progressive myoclonic epilepsy type 1HP:0040282 - Frequent133
HP:0001260HP:0001260Dysarthria0PRKCG CL E G H55829402OMIM:605361Spinocerebellar ataxia 14.83
HP:0001260HP:0001260Dysarthria0PRKCG CL E G H55829402ORPHA:98763Spinocerebellar ataxia type 14HP:0040283 - Occasional83
HP:0001260HP:0001260Dysarthria0PRKRA CL E G H85759438ORPHA:210571Dystonia 16HP:0040282 - Frequent37
HP:0001260HP:0001260Dysarthria0PRKRA CL E G H85759438OMIM:612067Dystonia 16.37
HP:0001260HP:0001260Dysarthria0PRNP CL E G H56219449OMIM:600072Fatal familial insomnia.69
HP:0001260HP:0001260Dysarthria0PRNP CL E G H56219449OMIM:137440Gerstmann-Straussler disease.69
HP:0001260HP:0001260Dysarthria0PRNP CL E G H56219449ORPHA:356Gerstmann-Straussler-Scheinker syndromeHP:0040282 - Frequent69
HP:0001260HP:0001260Dysarthria0PRNP CL E G H56219449OMIM:603218Huntington disease-like 1.69
HP:0001260HP:0001260Dysarthria0PRNP CL E G H56219449ORPHA:157941Huntington disease-like 1HP:0040282 - Frequent69
HP:0001260HP:0001260Dysarthria0PRNP CL E G H56219449ORPHA:282166Inherited Creutzfeldt-Jakob disease69
HP:0001260HP:0001260Dysarthria0PROK2 CL E G H6067518455ORPHA:478Kallmann syndromeHP:0040283 - Occasional9
HP:0001260HP:0001260Dysarthria0PROKR2 CL E G H12867415836ORPHA:478Kallmann syndromeHP:0040283 - Occasional34
HP:0001260HP:0001260Dysarthria0PRPH CL E G H56309461OMIM:105400Amyotrophic lateral sclerosis 1.25
HP:0001260HP:0001260Dysarthria0PRPS1 CL E G H56319462ORPHA:99014X-linked Charcot-Marie-Tooth disease type 5HP:0040283 - Occasional49
HP:0001260HP:0001260Dysarthria0PRRT2 CL E G H11247630500ORPHA:569Familial or sporadic hemiplegic migraineHP:0040282 - Frequent94
HP:0001260HP:0001260Dysarthria0PSAP CL E G H56609498OMIM:249900Metachromatic leukodystrophy due to saposin B deficiency.81
HP:0001260HP:0001260Dysarthria0PSAP CL E G H56609498ORPHA:309271Metachromatic leukodystrophy, adult formHP:0040282 - Frequent81
HP:0001260HP:0001260Dysarthria0PSAP CL E G H56609498ORPHA:309263Metachromatic leukodystrophy, juvenile formHP:0040282 - Frequent81
HP:0001260HP:0001260Dysarthria0PSAP CL E G H56609498ORPHA:309256Metachromatic leukodystrophy, late infantile formHP:0040282 - Frequent81
HP:0001260HP:0001260Dysarthria0PSEN1 CL E G H56639508OMIM:607822Alzheimer disease 3.241
HP:0001260HP:0001260Dysarthria0PTPN11 CL E G H57819644ORPHA:648Noonan syndromeHP:0040281 - Very frequent291
HP:0001260HP:0001260Dysarthria0PUM1 CL E G H969814957OMIM:617931Spinocerebellar ataxia 47.1
HP:0001260HP:0001260Dysarthria0PUS3 CL E G H8348025461ORPHA:488627Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndromeHP:0040283 - Occasional1
HP:0001260HP:0001260Dysarthria0RAB39B CL E G H11644216499OMIM:311510Waisman syndrome.34
HP:0001260HP:0001260Dysarthria0RAB3GAP2 CL E G H2578217168ORPHA:401830Autosomal recessive spastic paraplegia type 69135
HP:0001260HP:0001260Dysarthria0RAF1 CL E G H58949829ORPHA:648Noonan syndromeHP:0040281 - Very frequent212
HP:0001260HP:0001260Dysarthria0RAI1 CL E G H107439834ORPHA:171317p11.2 microduplication syndromeHP:0040281 - Very frequent150
HP:0001260HP:0001260Dysarthria0RANBP2 CL E G H59039848ORPHA:88619Familial acute necrotizing encephalopathyHP:0040282 - Frequent57
HP:0001260HP:0001260Dysarthria0RARS1 CL E G H59179870OMIM:616140Leukodystrophy, hypomyelinating, 9.
HP:0001260HP:0001260Dysarthria0RARS1 CL E G H59179870ORPHA:438114RARS-related autosomal recessive hypomyelinating leukodystrophyHP:0040282 - Frequent
HP:0001260HP:0001260Dysarthria0RASA2 CL E G H59229872ORPHA:648Noonan syndromeHP:0040281 - Very frequent3
HP:0001260HP:0001260Dysarthria0REEP1 CL E G H6505525786ORPHA:101011Autosomal dominant spastic paraplegia type 31HP:0040283 - Occasional87
HP:0001260HP:0001260Dysarthria0REEP1 CL E G H6505525786OMIM:610250Spastic paraplegia 31, autosomal dominant.87
HP:0001260HP:0001260Dysarthria0REPS1 CL E G H8502115578OMIM:617916Neurodegeneration with brain iron accumulation 7.
HP:0001260HP:0001260Dysarthria0RERE CL E G H4739965OMIM:616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart16
HP:0001260HP:0001260Dysarthria0RFC1 CL E G H59819969ORPHA:504476Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndromeHP:0040282 - Frequent
HP:0001260HP:0001260Dysarthria0RFC1 CL E G H59819969OMIM:614575Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome.
HP:0001260HP:0001260Dysarthria0RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001260HP:0001260Dysarthria0RFX5 CL E G H59939986ORPHA:572Immunodeficiency by defective expression of MHC class IIHP:0040284 - Very rare38
HP:0001260HP:0001260Dysarthria0RFXANK CL E G H86259987ORPHA:572Immunodeficiency by defective expression of MHC class IIHP:0040284 - Very rare26
HP:0001260HP:0001260Dysarthria0RFXAP CL E G H59949988ORPHA:572Immunodeficiency by defective expression of MHC class IIHP:0040284 - Very rare34
HP:0001260HP:0001260Dysarthria0RILPL1 CL E G H35311626814OMIM:619790OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4
HP:0001260HP:0001260Dysarthria0RIT1 CL E G H601610023ORPHA:648Noonan syndromeHP:0040281 - Very frequent39
HP:0001260HP:0001260Dysarthria0RNASEH1 CL E G H24624318466ORPHA:329336Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathyHP:0040282 - Frequent3
HP:0001260HP:0001260Dysarthria0RNASEH1 CL E G H24624318466OMIM:616479Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2.3
HP:0001260HP:0001260Dysarthria0RNF113A CL E G H773712974ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0001260HP:0001260Dysarthria0RNF170 CL E G H8179025358OMIM:619686SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG853
HP:0001260HP:0001260Dysarthria0RNF216 CL E G H5447621698OMIM:212840Cerebellar ataxia and hypogonadotropic hypogonadism.10
HP:0001260HP:0001260Dysarthria0RNF220 CL E G H5518225552OMIM:619688LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY; HLD231
HP:0001260HP:0001260Dysarthria0RNU12 CL E G H26701019380ORPHA:512260Congenital cerebellar ataxia due to RNU12 mutationHP:0040282 - Frequent
HP:0001260HP:0001260Dysarthria0RPIA CL E G H2293410297OMIM:608611Ribose 5-phosphate isomerase deficiency.18
HP:0001260HP:0001260Dysarthria0RPS20 CL E G H622410405ORPHA:440437Familial colorectal cancer Type XHP:0040283 - Occasional1
HP:0001260HP:0001260Dysarthria0RRAS CL E G H623710447ORPHA:648Noonan syndromeHP:0040281 - Very frequent
HP:0001260HP:0001260Dysarthria0RRAS2 CL E G H2280017271ORPHA:648Noonan syndromeHP:0040281 - Very frequent1
HP:0001260HP:0001260Dysarthria0RRM2B CL E G H5048417296ORPHA:329336Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathyHP:0040282 - Frequent125
HP:0001260HP:0001260Dysarthria0RRM2B CL E G H5048417296ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional125
HP:0001260HP:0001260Dysarthria0RRM2B CL E G H5048417296OMIM:613077Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5.125
HP:0001260HP:0001260Dysarthria0RTTN CL E G H2591418654ORPHA:468631Microcephalic cortical malformations-short stature due to RTTN deficiencyHP:0040283 - Occasional113
HP:0001260HP:0001260Dysarthria0RTTN CL E G H2591418654OMIM:614833Microcephaly, short stature, and polymicrogyria with or without seizures113
HP:0001260HP:0001260Dysarthria0RUBCN CL E G H971128991ORPHA:404499Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiencyHP:0040281 - Very frequent9
HP:0001260HP:0001260Dysarthria0RUBCN CL E G H971128991OMIM:615705SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR159
HP:0001260HP:0001260Dysarthria0RYR1 CL E G H626110483ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040283 - Occasional1200
HP:0001260HP:0001260Dysarthria0SACS CL E G H2627810519ORPHA:98Autosomal recessive spastic ataxia of Charlevoix-SaguenayHP:0040282 - Frequent309
HP:0001260HP:0001260Dysarthria0SACS CL E G H2627810519OMIM:270550Spastic ataxia, Charlevoix-Saguenay type309
HP:0001260HP:0001260Dysarthria0SAMD9L CL E G H2192851349OMIM:159550Ataxia-Pancytopenia syndrome.4
HP:0001260HP:0001260Dysarthria0SAMD9L CL E G H2192851349OMIM:619806SPINOCEREBELLAR ATAXIA 49; SCA494
HP:0001260HP:0001260Dysarthria0SATB1 CL E G H630410541OMIM:619228DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES; DEFDA
HP:0001260HP:0001260Dysarthria0SATB1 CL E G H630410541OMIM:619229KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0001260HP:0001260Dysarthria0SCARB2 CL E G H9501665OMIM:254900Epilepsy, progressive myoclonic, 4, with or without renal failure.77
HP:0001260HP:0001260Dysarthria0SCARB2 CL E G H9501665ORPHA:308Progressive myoclonic epilepsy type 1HP:0040282 - Frequent77
HP:0001260HP:0001260Dysarthria0SCN1A CL E G H632310585ORPHA:569Familial or sporadic hemiplegic migraineHP:0040282 - Frequent1053
HP:0001260HP:0001260Dysarthria0SCN5A CL E G H633110593ORPHA:1344Atrial standstillHP:0040283 - Occasional1134
HP:0001260HP:0001260Dysarthria0SCN8A CL E G H633410596OMIM:614306Cognitive impairment with or without cerebellar ataxiaHP:0040283 - Occasional357
HP:0001260HP:0001260Dysarthria0SCO2 CL E G H999710604ORPHA:521411Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defectHP:0040282 - Frequent40
HP:0001260HP:0001260Dysarthria0SDHA CL E G H638910680ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent304
HP:0001260HP:0001260Dysarthria0SEC31A CL E G H2287217052OMIM:618651HALPERIN-BIRK SYNDROME; HLBKS
HP:0001260HP:0001260Dysarthria0SELENOI CL E G H8546529361ORPHA:506353Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
HP:0001260HP:0001260Dysarthria0SELENOI CL E G H8546529361OMIM:618768SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0001260HP:0001260Dysarthria0SEMA3A CL E G H1037110723ORPHA:478Kallmann syndromeHP:0040283 - Occasional14
HP:0001260HP:0001260Dysarthria0SEMA4A CL E G H6421810729ORPHA:440437Familial colorectal cancer Type XHP:0040283 - Occasional48
HP:0001260HP:0001260Dysarthria0SERPINI1 CL E G H52748943OMIM:604218Encephalopathy, familial, with neuroserpin inclusion bodies.28
HP:0001260HP:0001260Dysarthria0SETX CL E G H23064445OMIM:606002Spinocerebellar ataxia, autosomal recessive 1162
HP:0001260HP:0001260Dysarthria0SH3TC2 CL E G H7962829427ORPHA:99949Charcot-Marie-Tooth disease type 4CHP:0040283 - Occasional493
HP:0001260HP:0001260Dysarthria0SIL1 CL E G H6437424624ORPHA:559Marinesco-Sjögren syndromeHP:0040281 - Very frequent67
HP:0001260HP:0001260Dysarthria0SIL1 CL E G H6437424624OMIM:248800Marinesco-Sjogren syndrome.67
HP:0001260HP:0001260Dysarthria0SLC13A3 CL E G H6484914430OMIM:618384Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate.2
HP:0001260HP:0001260Dysarthria0SLC16A2 CL E G H656710923OMIM:300523Allan-Herndon-Dudley syndrome.57
HP:0001260HP:0001260Dysarthria0SLC17A5 CL E G H2650310933OMIM:604369Salla disease.78
HP:0001260HP:0001260Dysarthria0SLC18A2 CL E G H657110935ORPHA:352649Brain dopamine-serotonin vesicular transport diseaseHP:0040281 - Very frequent2
HP:0001260HP:0001260Dysarthria0SLC18A2 CL E G H657110935OMIM:618049Parkinsonism-Dystonia, infantile, 2.2
HP:0001260HP:0001260Dysarthria0SLC19A3 CL E G H8070416266ORPHA:263410Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndromeHP:0040282 - Frequent110
HP:0001260HP:0001260Dysarthria0SLC19A3 CL E G H8070416266ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent110
HP:0001260HP:0001260Dysarthria0SLC19A3 CL E G H8070416266OMIM:607483Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)110
HP:0001260HP:0001260Dysarthria0SLC1A3 CL E G H650710941ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional63
HP:0001260HP:0001260Dysarthria0SLC1A3 CL E G H650710941OMIM:612656Episodic ataxia, type 6.63
HP:0001260HP:0001260Dysarthria0SLC20A2 CL E G H657510947OMIM:213600Basal ganglia calcification, idiopathic, 1.70
HP:0001260HP:0001260Dysarthria0SLC25A4 CL E G H29110990ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional68
HP:0001260HP:0001260Dysarthria0SLC2A1 CL E G H651311005ORPHA:71277Classic glucose transporter type 1 deficiency syndromeHP:0040282 - Frequent255
HP:0001260HP:0001260Dysarthria0SLC2A1 CL E G H651311005OMIM:601042Dystonia 9.255
HP:0001260HP:0001260Dysarthria0SLC2A1 CL E G H651311005OMIM:606777Glut1 deficiency syndrome 1.255
HP:0001260HP:0001260Dysarthria0SLC2A1 CL E G H651311005ORPHA:53583Paroxysmal dystonic choreathetosis with episodic ataxia and spasticityHP:0040282 - Frequent255
HP:0001260HP:0001260Dysarthria0SLC30A10 CL E G H5553225355ORPHA:309854Cirrhosis-dystonia-polycythemia-hypermanganesemia syndromeHP:0040282 - Frequent42
HP:0001260HP:0001260Dysarthria0SLC30A10 CL E G H5553225355OMIM:613280Hypermanganesemia with dystonia 142
HP:0001260HP:0001260Dysarthria0SLC35A1 CL E G H1055911021OMIM:603585Congenital disorder of glycosylation, type IIf.24
HP:0001260HP:0001260Dysarthria0SLC44A1 CL E G H2344618798OMIM:618868NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC1
HP:0001260HP:0001260Dysarthria0SLC7A6OS CL E G H8413825807OMIM:619191EPILEPSY, PROGRESSIVE MYOCLONIC, 12; EPM12
HP:0001260HP:0001260Dysarthria0SLC9A1 CL E G H654811071OMIM:616291Lichtenstein-Knorr syndrome.2
HP:0001260HP:0001260Dysarthria0SMARCAL1 CL E G H5048511102ORPHA:1830Schimke immuno-osseous dysplasiaHP:0040283 - Occasional74
HP:0001260HP:0001260Dysarthria0SMS CL E G H661111123OMIM:309583Mental retardation, X-linked, syndromic, Snyder-Robinson type.19
HP:0001260HP:0001260Dysarthria0SNAP25 CL E G H661611132OMIM:616330Myasthenic syndrome, congenital, 18.2
HP:0001260HP:0001260Dysarthria0SNCA CL E G H662211138OMIM:168601Parkinson disease 1, autosomal dominant.65
HP:0001260HP:0001260Dysarthria0SNCAIP CL E G H962711139OMIM:168600Parkinson disease, late-onset.35
HP:0001260HP:0001260Dysarthria0SNORD118 CL E G H72767632952ORPHA:542310Leukoencephalopathy with calcifications and cysts6
HP:0001260HP:0001260Dysarthria0SNORD118 CL E G H72767632952OMIM:614561Leukoencephalopathy, brain calcifications, and cysts.6
HP:0001260HP:0001260Dysarthria0SOD1 CL E G H664711179OMIM:105400Amyotrophic lateral sclerosis 1.53
HP:0001260HP:0001260Dysarthria0SOS1 CL E G H665411187ORPHA:648Noonan syndromeHP:0040281 - Very frequent315
HP:0001260HP:0001260Dysarthria0SOS2 CL E G H665511188ORPHA:648Noonan syndromeHP:0040281 - Very frequent30
HP:0001260HP:0001260Dysarthria0SOX10 CL E G H666311190ORPHA:478Kallmann syndromeHP:0040283 - Occasional61
HP:0001260HP:0001260Dysarthria0SPART CL E G H2311118514ORPHA:101000Autosomal recessive spastic paraplegia type 20HP:0040282 - Frequent66
HP:0001260HP:0001260Dysarthria0SPART CL E G H2311118514OMIM:275900Spastic paraplegia 20, autosomal recessive.66
HP:0001260HP:0001260Dysarthria0SPAST CL E G H668311233ORPHA:100985Autosomal dominant spastic paraplegia type 4HP:0040283 - Occasional208
HP:0001260HP:0001260Dysarthria0SPEG CL E G H1029016901ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040283 - Occasional20
HP:0001260HP:0001260Dysarthria0SPG11 CL E G H8020811226OMIM:602099Amyotrophic lateral sclerosis 5, juvenile.287
HP:0001260HP:0001260Dysarthria0SPG11 CL E G H8020811226ORPHA:2822Autosomal recessive spastic paraplegia type 11HP:0040282 - Frequent287
HP:0001260HP:0001260Dysarthria0SPG11 CL E G H8020811226OMIM:604360Spastic paraplegia 11, autosomal recessive.287
HP:0001260HP:0001260Dysarthria0SPG21 CL E G H5132420373OMIM:248900Mast syndromeHP:0040283 - Occasional28
HP:0001260HP:0001260Dysarthria0SPG7 CL E G H668711237ORPHA:35689Primary lateral sclerosis171
HP:0001260HP:0001260Dysarthria0SPG7 CL E G H668711237OMIM:607259Spastic paraplegia 7, autosomal recessive.171
HP:0001260HP:0001260Dysarthria0SPG7 CL E G H668711237ORPHA:99013Spastic paraplegia type 7HP:0040283 - Occasional171
HP:0001260HP:0001260Dysarthria0SPR CL E G H669711257OMIM:612716Dystonia, dopa-responsive, due to sepiapterin reductase deficiency.28
HP:0001260HP:0001260Dysarthria0SPRED2 CL E G H20073417722ORPHA:648Noonan syndromeHP:0040281 - Very frequent
HP:0001260HP:0001260Dysarthria0SPRY4 CL E G H8184815533ORPHA:478Kallmann syndromeHP:0040283 - Occasional5
HP:0001260HP:0001260Dysarthria0SPTBN2 CL E G H671211276ORPHA:352403Spectrin-associated autosomal recessive cerebellar ataxiaHP:0040282 - Frequent126
HP:0001260HP:0001260Dysarthria0SPTBN2 CL E G H671211276OMIM:600224Spinocerebellar ataxia 5.126
HP:0001260HP:0001260Dysarthria0SQSTM1 CL E G H887811280OMIM:616437Frontotemporal dementia and/or amyotrophic lateral sclerosis 3.62
HP:0001260HP:0001260Dysarthria0SQSTM1 CL E G H887811280ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040282 - Frequent62
HP:0001260HP:0001260Dysarthria0SQSTM1 CL E G H887811280OMIM:617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset.62
HP:0001260HP:0001260Dysarthria0SRCAP CL E G H1084716974ORPHA:2044Floating-Harbor syndromeHP:0040283 - Occasional138
HP:0001260HP:0001260Dysarthria0SRPX2 CL E G H2728630668ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040283 - Occasional50
HP:0001260HP:0001260Dysarthria0SRPX2 CL E G H2728630668ORPHA:163721Rolandic epilepsy-speech dyspraxia syndromeHP:0040283 - Occasional50
HP:0001260HP:0001260Dysarthria0STAC3 CL E G H24632928423ORPHA:168572Native American myopathyHP:0040283 - Occasional14
HP:0001260HP:0001260Dysarthria0STUB1 CL E G H1027311427ORPHA:412057Autosomal recessive cerebellar ataxia due to STUB1 deficiencyHP:0040281 - Very frequent14
HP:0001260HP:0001260Dysarthria0STUB1 CL E G H1027311427OMIM:618093SPINOCEREBELLAR ATAXIA 48; SCA4814
HP:0001260HP:0001260Dysarthria0STUB1 CL E G H1027311427OMIM:615768Spinocerebellar ataxia, autosomal recessive 1614
HP:0001260HP:0001260Dysarthria0STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001260HP:0001260Dysarthria0SUFU CL E G H5168416466OMIM:617757Joubert syndrome 32.124
HP:0001260HP:0001260Dysarthria0SURF1 CL E G H683411474ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent73
HP:0001260HP:0001260Dysarthria0SYNE1 CL E G H2334517089ORPHA:88644Autosomal recessive ataxia, Beauce typeHP:0040283 - Occasional1129
HP:0001260HP:0001260Dysarthria0SYNE1 CL E G H2334517089OMIM:610743Spinocerebellar ataxia, autosomal recessive 8.1129
HP:0001260HP:0001260Dysarthria0SYNJ1 CL E G H886711503OMIM:615530Parkinson disease 20, early-onset.9
HP:0001260HP:0001260Dysarthria0SYT14 CL E G H25592823143ORPHA:284271Autosomal recessive cerebellar ataxia-psychomotor delay syndromeHP:0040281 - Very frequent4
HP:0001260HP:0001260Dysarthria0SYT14 CL E G H25592823143OMIM:614229Spinocerebellar ataxia, autosomal recessive 11.4
HP:0001260HP:0001260Dysarthria0SYT2 CL E G H12783311510OMIM:619461MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B4
HP:0001260HP:0001260Dysarthria0TACO1 CL E G H5120424316ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent23
HP:0001260HP:0001260Dysarthria0TACO1 CL E G H5120424316OMIM:619052MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 8; MC4DN823
HP:0001260HP:0001260Dysarthria0TACR3 CL E G H687011528ORPHA:478Kallmann syndromeHP:0040283 - Occasional34
HP:0001260HP:0001260Dysarthria0TANGO2 CL E G H12898925439OMIM:616878Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration12
HP:0001260HP:0001260Dysarthria0TARDBP CL E G H2343511571OMIM:612069Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia.65
HP:0001260HP:0001260Dysarthria0TARDBP CL E G H2343511571ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040282 - Frequent65
HP:0001260HP:0001260Dysarthria0TARS1 CL E G H689711572ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0001260HP:0001260Dysarthria0TBC1D23 CL E G H5577325622OMIM:617695Pontocerebellar hypoplasia, type 11.
HP:0001260HP:0001260Dysarthria0TBC1D24 CL E G H5746529203OMIM:608105Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp.271
HP:0001260HP:0001260Dysarthria0TBC1D24 CL E G H5746529203ORPHA:352582Familial infantile myoclonic epilepsyHP:0040282 - Frequent271
HP:0001260HP:0001260Dysarthria0TBC1D24 CL E G H5746529203OMIM:605021Myoclonic epilepsy, familial infantile.271
HP:0001260HP:0001260Dysarthria