Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001260	HP:0001260	Dysarthria	0	AAAS CL E G H	8086	13666	OMIM:231550	Achalasia-Addisonianism-Alacrima syndrome	.	57
HP:0001260	HP:0001260	Dysarthria	0	AARS2 CL E G H	57505	21022	OMIM:615889	Leukoencephalopathy, progressive, with ovarian failure	.	143
HP:0001260	HP:0001260	Dysarthria	0	ABCA2 CL E G H	20	32	OMIM:618808	INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA; IDPOGSA
HP:0001260	HP:0001260	Dysarthria	0	ABCB7 CL E G H	22	48	OMIM:301310	Anemia, sideroblastic, and spinocerebellar ataxia	.	35
HP:0001260	HP:0001260	Dysarthria	0	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy	HP:0040283 - Occasional	135
HP:0001260	HP:0001260	Dysarthria	0	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy	HP:0040283 - Occasional	135
HP:0001260	HP:0001260	Dysarthria	0	ABHD12 CL E G H	26090	15868	OMIM:612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	.	50
HP:0001260	HP:0001260	Dysarthria	0	ACBD5 CL E G H	91452	23338	OMIM:618863	RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD		1
HP:0001260	HP:0001260	Dysarthria	0	ACTB CL E G H	60	132	OMIM:607371	Dystonia, juvenile-onset		72
HP:0001260	HP:0001260	Dysarthria	0	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome		22
HP:0001260	HP:0001260	Dysarthria	0	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent	116
HP:0001260	HP:0001260	Dysarthria	0	ADCY5 CL E G H	111	236	OMIM:619647	DYSKINESIA WITH OROFACIAL INVOLVEMENT, AUTOSOMAL RECESSIVE; DSKOR		25
HP:0001260	HP:0001260	Dysarthria	0	ADCY5 CL E G H	111	236	OMIM:606703	Dyskinesia, familial, with facial myokymia	.	25
HP:0001260	HP:0001260	Dysarthria	0	ADCY5 CL E G H	111	236	ORPHA:324588	Familial dyskinesia and facial myokymia	HP:0040282 - Frequent	25
HP:0001260	HP:0001260	Dysarthria	0	ADD3 CL E G H	120	245	OMIM:617008	Cerebral palsy, spastic quadriplegic, 3		3
HP:0001260	HP:0001260	Dysarthria	0	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional	88
HP:0001260	HP:0001260	Dysarthria	0	ADH1C CL E G H	126	251	OMIM:168600	Parkinson disease, late-onset	.	4
HP:0001260	HP:0001260	Dysarthria	0	ADPRS CL E G H	54936	21304	OMIM:618170	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	.
HP:0001260	HP:0001260	Dysarthria	0	AFG3L2 CL E G H	10939	315	ORPHA:313772	Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome		86
HP:0001260	HP:0001260	Dysarthria	0	AFG3L2 CL E G H	10939	315	OMIM:614487	Spastic ataxia 5, autosomal recessive	.	86
HP:0001260	HP:0001260	Dysarthria	0	AFG3L2 CL E G H	10939	315	OMIM:610246	Spinocerebellar ataxia 28	.	86
HP:0001260	HP:0001260	Dysarthria	0	AFG3L2 CL E G H	10939	315	ORPHA:101109	Spinocerebellar ataxia type 28	HP:0040281 - Very frequent	86
HP:0001260	HP:0001260	Dysarthria	0	ALAD CL E G H	210	395	ORPHA:100924	Porphyria due to ALA dehydratase deficiency	HP:0040283 - Occasional	62
HP:0001260	HP:0001260	Dysarthria	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A		89
HP:0001260	HP:0001260	Dysarthria	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447757	Autosomal dominant spastic paraplegia type 9B		89
HP:0001260	HP:0001260	Dysarthria	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B	HP:0040282 - Frequent	89
HP:0001260	HP:0001260	Dysarthria	0	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant	.	89
HP:0001260	HP:0001260	Dysarthria	0	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive	.	89
HP:0001260	HP:0001260	Dysarthria	0	ALDH3A2 CL E G H	224	403	ORPHA:816	Sjögren-Larsson syndrome	HP:0040282 - Frequent	87
HP:0001260	HP:0001260	Dysarthria	0	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile	.	114
HP:0001260	HP:0001260	Dysarthria	0	ALS2 CL E G H	57679	443	ORPHA:293168	Infantile-onset ascending hereditary spastic paralysis	HP:0040281 - Very frequent	114
HP:0001260	HP:0001260	Dysarthria	0	ALS2 CL E G H	57679	443	ORPHA:247604	Juvenile primary lateral sclerosis		114
HP:0001260	HP:0001260	Dysarthria	0	ALS2 CL E G H	57679	443	OMIM:606353	Primary lateral sclerosis, juvenile		114
HP:0001260	HP:0001260	Dysarthria	0	ALS2 CL E G H	57679	443	OMIM:607225	Spastic paralysis, infantile-onset ascending	.	114
HP:0001260	HP:0001260	Dysarthria	0	AMACR CL E G H	23600	451	OMIM:614307	Alpha-methylacyl-CoA racemase deficiency	.	44
HP:0001260	HP:0001260	Dysarthria	0	ANO10 CL E G H	55129	25519	ORPHA:284289	Adult-onset autosomal recessive cerebellar ataxia	HP:0040282 - Frequent	64
HP:0001260	HP:0001260	Dysarthria	0	ANO10 CL E G H	55129	25519	OMIM:613728	Spinocerebellar ataxia, autosomal recessive 10	.	64
HP:0001260	HP:0001260	Dysarthria	0	ANOS1 CL E G H	3730	6211	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	65
HP:0001260	HP:0001260	Dysarthria	0	ANXA11 CL E G H	311	535	OMIM:619733	INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0001260	HP:0001260	Dysarthria	0	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia		49
HP:0001260	HP:0001260	Dysarthria	0	AP4B1 CL E G H	10717	572	OMIM:614066	Spastic paraplegia 47, autosomal recessive	.	49
HP:0001260	HP:0001260	Dysarthria	0	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia		48
HP:0001260	HP:0001260	Dysarthria	0	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia		41
HP:0001260	HP:0001260	Dysarthria	0	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia		18
HP:0001260	HP:0001260	Dysarthria	0	APOE CL E G H	348	613	OMIM:607822	Alzheimer disease 3	.	39
HP:0001260	HP:0001260	Dysarthria	0	APTX CL E G H	54840	15984	OMIM:208920	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	.	61
HP:0001260	HP:0001260	Dysarthria	0	AR CL E G H	367	644	ORPHA:481	Kennedy disease	HP:0040281 - Very frequent	125
HP:0001260	HP:0001260	Dysarthria	0	AR CL E G H	367	644	OMIM:313200	Spinal and bulbar muscular atrophy, X-linked 1	.	125
HP:0001260	HP:0001260	Dysarthria	0	ARSA CL E G H	410	713	OMIM:250100	Metachromatic leukodystrophy	.	253
HP:0001260	HP:0001260	Dysarthria	0	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040282 - Frequent	253
HP:0001260	HP:0001260	Dysarthria	0	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040282 - Frequent	253
HP:0001260	HP:0001260	Dysarthria	0	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form	HP:0040282 - Frequent	253
HP:0001260	HP:0001260	Dysarthria	0	ARX CL E G H	170302	18060	OMIM:309510	Partington syndrome		166
HP:0001260	HP:0001260	Dysarthria	0	ARX CL E G H	170302	18060	ORPHA:94083	Partington syndrome	HP:0040282 - Frequent	166
HP:0001260	HP:0001260	Dysarthria	0	ATCAY CL E G H	85300	779	ORPHA:94122	Cerebellar ataxia, Cayman type	HP:0040282 - Frequent	72
HP:0001260	HP:0001260	Dysarthria	0	ATCAY CL E G H	85300	779	OMIM:601238	Cerebellar ataxia, Cayman type	.	72
HP:0001260	HP:0001260	Dysarthria	0	ATG5 CL E G H	9474	589	OMIM:617584	Spinocerebellar ataxia, autosomal recessive 25		1
HP:0001260	HP:0001260	Dysarthria	0	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31		1
HP:0001260	HP:0001260	Dysarthria	0	ATL1 CL E G H	51062	11231	ORPHA:100984	Autosomal dominant spastic paraplegia type 3	HP:0040284 - Very rare	71
HP:0001260	HP:0001260	Dysarthria	0	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia	HP:0040282 - Frequent	3267
HP:0001260	HP:0001260	Dysarthria	0	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA	.	3267
HP:0001260	HP:0001260	Dysarthria	0	ATN1 CL E G H	1822	3033	ORPHA:101	Dentatorubral pallidoluysian atrophy	HP:0040282 - Frequent	16
HP:0001260	HP:0001260	Dysarthria	0	ATP13A2 CL E G H	23400	30213	ORPHA:314632	ATP13A2-related juvenile neuronal ceroid lipofuscinosis	HP:0040283 - Occasional	100
HP:0001260	HP:0001260	Dysarthria	0	ATP13A2 CL E G H	23400	30213	ORPHA:513436	Autosomal recessive spastic paraplegia type 78	HP:0040281 - Very frequent	100
HP:0001260	HP:0001260	Dysarthria	0	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome		100
HP:0001260	HP:0001260	Dysarthria	0	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome	HP:0040283 - Occasional	100
HP:0001260	HP:0001260	Dysarthria	0	ATP13A2 CL E G H	23400	30213	OMIM:617225	SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78		100
HP:0001260	HP:0001260	Dysarthria	0	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional	239
HP:0001260	HP:0001260	Dysarthria	0	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent	239
HP:0001260	HP:0001260	Dysarthria	0	ATP1A2 CL E G H	477	800	OMIM:602481	Migraine, familial hemiplegic, 2	.	239
HP:0001260	HP:0001260	Dysarthria	0	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional	150
HP:0001260	HP:0001260	Dysarthria	0	ATP1A3 CL E G H	478	801	OMIM:614820	Alternating hemiplegia of childhood 2	.	150
HP:0001260	HP:0001260	Dysarthria	0	ATP1A3 CL E G H	478	801	OMIM:601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss	.	150
HP:0001260	HP:0001260	Dysarthria	0	ATP1A3 CL E G H	478	801	OMIM:128235	Dystonia 12	.	150
HP:0001260	HP:0001260	Dysarthria	0	ATP1A3 CL E G H	478	801	ORPHA:71517	Rapid-onset dystonia-parkinsonism	HP:0040282 - Frequent	150
HP:0001260	HP:0001260	Dysarthria	0	ATP2B3 CL E G H	492	816	OMIM:302500	Spinocerebellar ataxia, X-linked 1	.	19
HP:0001260	HP:0001260	Dysarthria	0	ATP2B3 CL E G H	492	816	ORPHA:314978	X-linked non progressive cerebellar ataxia		19
HP:0001260	HP:0001260	Dysarthria	0	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent
HP:0001260	HP:0001260	Dysarthria	0	ATP7B CL E G H	540	870	ORPHA:905	Wilson disease	HP:0040281 - Very frequent	315
HP:0001260	HP:0001260	Dysarthria	0	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease	.	315
HP:0001260	HP:0001260	Dysarthria	0	ATP8A2 CL E G H	51761	13533	OMIM:615268	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome4	.	24
HP:0001260	HP:0001260	Dysarthria	0	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1	.	19
HP:0001260	HP:0001260	Dysarthria	0	ATXN1 CL E G H	6310	10548	ORPHA:98755	Spinocerebellar ataxia type 1	HP:0040282 - Frequent	19
HP:0001260	HP:0001260	Dysarthria	0	ATXN10 CL E G H	25814	10549	OMIM:603516	Spinocerebellar ataxia 10	.	9
HP:0001260	HP:0001260	Dysarthria	0	ATXN10 CL E G H	25814	10549	ORPHA:98761	Spinocerebellar ataxia type 10	HP:0040281 - Very frequent	9
HP:0001260	HP:0001260	Dysarthria	0	ATXN2 CL E G H	6311	10555	OMIM:168600	Parkinson disease, late-onset	.	11
HP:0001260	HP:0001260	Dysarthria	0	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2	.	11
HP:0001260	HP:0001260	Dysarthria	0	ATXN2 CL E G H	6311	10555	ORPHA:98756	Spinocerebellar ataxia type 2	HP:0040282 - Frequent	11
HP:0001260	HP:0001260	Dysarthria	0	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease		14
HP:0001260	HP:0001260	Dysarthria	0	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1	HP:0040282 - Frequent	14
HP:0001260	HP:0001260	Dysarthria	0	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2	HP:0040282 - Frequent	14
HP:0001260	HP:0001260	Dysarthria	0	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3	HP:0040282 - Frequent	14
HP:0001260	HP:0001260	Dysarthria	0	ATXN7 CL E G H	6314	10560	OMIM:164500	Spinocerebellar ataxia 7 opca III opca with retinal degeneration opca with macular degeneration and external ophthalmoplegia autosomal dominant cerebellar ataxia, type II adca, type II		8
HP:0001260	HP:0001260	Dysarthria	0	ATXN7 CL E G H	6314	10560	ORPHA:94147	Spinocerebellar ataxia type 7	HP:0040280 - Obligate	8
HP:0001260	HP:0001260	Dysarthria	0	ATXN8 CL E G H	724066	32925	OMIM:608768	Spinocerebellar ataxia 8	.	1
HP:0001260	HP:0001260	Dysarthria	0	ATXN8 CL E G H	724066	32925	ORPHA:98760	Spinocerebellar ataxia type 8		1
HP:0001260	HP:0001260	Dysarthria	0	ATXN8OS CL E G H	6315	10561	OMIM:168600	Parkinson disease, late-onset	.	1
HP:0001260	HP:0001260	Dysarthria	0	ATXN8OS CL E G H	6315	10561	OMIM:608768	Spinocerebellar ataxia 8	.	1
HP:0001260	HP:0001260	Dysarthria	0	ATXN8OS CL E G H	6315	10561	ORPHA:98760	Spinocerebellar ataxia type 8		1
HP:0001260	HP:0001260	Dysarthria	0	AUH CL E G H	549	890	OMIM:250950	3-methylglutaconic aciduria, type I	.	49
HP:0001260	HP:0001260	Dysarthria	0	B4GALNT1 CL E G H	2583	4117	ORPHA:101006	Autosomal recessive spastic paraplegia type 26		25
HP:0001260	HP:0001260	Dysarthria	0	B4GALNT1 CL E G H	2583	4117	OMIM:609195	Spastic paraplegia 26, autosomal recessive	.	25
HP:0001260	HP:0001260	Dysarthria	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001260	HP:0001260	Dysarthria	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001260	HP:0001260	Dysarthria	0	BEAN1 CL E G H	146227	24160	OMIM:117210	Spinocerebellar ataxia 31	.	1
HP:0001260	HP:0001260	Dysarthria	0	BEAN1 CL E G H	146227	24160	ORPHA:217012	Spinocerebellar ataxia type 31	HP:0040281 - Very frequent	1
HP:0001260	HP:0001260	Dysarthria	0	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional	99
HP:0001260	HP:0001260	Dysarthria	0	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2	.	99
HP:0001260	HP:0001260	Dysarthria	0	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional	385
HP:0001260	HP:0001260	Dysarthria	0	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040283 - Occasional	276
HP:0001260	HP:0001260	Dysarthria	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001260	HP:0001260	Dysarthria	0	C19ORF12 CL E G H	83636	25443	ORPHA:289560	Mitochondrial membrane protein-associated neurodegeneration	HP:0040281 - Very frequent	114
HP:0001260	HP:0001260	Dysarthria	0	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4	.	114
HP:0001260	HP:0001260	Dysarthria	0	C19ORF12 CL E G H	83636	25443	OMIM:615043	Spastic paraplegia 43, autosomal recessive	.	114
HP:0001260	HP:0001260	Dysarthria	0	C9ORF72 CL E G H	203228	28337	OMIM:105550	Amyotrophic lateral sclerosis and/or frontotemporal dementia 1	.	56
HP:0001260	HP:0001260	Dysarthria	0	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	56
HP:0001260	HP:0001260	Dysarthria	0	CA8 CL E G H	767	1382	OMIM:613227	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome3	.	8
HP:0001260	HP:0001260	Dysarthria	0	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional	449
HP:0001260	HP:0001260	Dysarthria	0	CACNA1A CL E G H	773	1388	OMIM:108500	Episodic ataxia, type 2	.	449
HP:0001260	HP:0001260	Dysarthria	0	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent	449
HP:0001260	HP:0001260	Dysarthria	0	CACNA1A CL E G H	773	1388	ORPHA:97	Familial paroxysmal ataxia	HP:0040282 - Frequent	449
HP:0001260	HP:0001260	Dysarthria	0	CACNA1A CL E G H	773	1388	OMIM:183086	Spinocerebellar ataxia 6	.	449
HP:0001260	HP:0001260	Dysarthria	0	CACNA1A CL E G H	773	1388	ORPHA:98758	Spinocerebellar ataxia type 6	HP:0040283 - Occasional	449
HP:0001260	HP:0001260	Dysarthria	0	CACNA1G CL E G H	8913	1394	OMIM:616795	Spinocerebellar ataxia 42		32
HP:0001260	HP:0001260	Dysarthria	0	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42	HP:0040281 - Very frequent	32
HP:0001260	HP:0001260	Dysarthria	0	CACNA2D2 CL E G H	9254	1400	OMIM:618501	Cerebellar atrophy with seizures and variable developmental delay	.	48
HP:0001260	HP:0001260	Dysarthria	0	CACNB4 CL E G H	785	1404	OMIM:607682	Epilepsy, idiopathic generalized, susceptibility to, 9		146
HP:0001260	HP:0001260	Dysarthria	0	CACNB4 CL E G H	785	1404	ORPHA:211067	Episodic ataxia type 5	HP:0040282 - Frequent	146
HP:0001260	HP:0001260	Dysarthria	0	CACNB4 CL E G H	785	1404	OMIM:613855	Episodic ataxia, type 5	.	146
HP:0001260	HP:0001260	Dysarthria	0	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation	.	34
HP:0001260	HP:0001260	Dysarthria	0	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability	HP:0040282 - Frequent	34
HP:0001260	HP:0001260	Dysarthria	0	CAPN1 CL E G H	823	1476	ORPHA:488594	Autosomal recessive spastic paraplegia type 76	HP:0040282 - Frequent	4
HP:0001260	HP:0001260	Dysarthria	0	CAPN1 CL E G H	823	1476	OMIM:616907	SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG76		4
HP:0001260	HP:0001260	Dysarthria	0	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0001260	HP:0001260	Dysarthria	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0001260	HP:0001260	Dysarthria	0	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	317
HP:0001260	HP:0001260	Dysarthria	0	CCDC141 CL E G H	285025	26821	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional
HP:0001260	HP:0001260	Dysarthria	0	CCDC88C CL E G H	440193	19967	OMIM:616053	Spinocerebellar ataxia 40	.	54
HP:0001260	HP:0001260	Dysarthria	0	CCDC88C CL E G H	440193	19967	ORPHA:423275	Spinocerebellar ataxia type 40	HP:0040282 - Frequent	54
HP:0001260	HP:0001260	Dysarthria	0	CCNF CL E G H	899	1591	OMIM:619141	FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 5; FTDALS5
HP:0001260	HP:0001260	Dysarthria	0	CERS1 CL E G H	10715	14253	OMIM:616230	Epilepsy, progressive myoclonic, 8		1
HP:0001260	HP:0001260	Dysarthria	0	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40		16
HP:0001260	HP:0001260	Dysarthria	0	CHCHD10 CL E G H	400916	15559	OMIM:615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	.	11
HP:0001260	HP:0001260	Dysarthria	0	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	11
HP:0001260	HP:0001260	Dysarthria	0	CHD3 CL E G H	1107	1918	OMIM:618205	Snijders blok-campeau syndrome	.	2
HP:0001260	HP:0001260	Dysarthria	0	CHD7 CL E G H	55636	20626	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	515
HP:0001260	HP:0001260	Dysarthria	0	CHRNA1 CL E G H	1134	1955	OMIM:601462	Myasthenic syndrome, congenital, 1A, slow-channel	.	74
HP:0001260	HP:0001260	Dysarthria	0	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel	.	74
HP:0001260	HP:0001260	Dysarthria	0	CHRNE CL E G H	1145	1966	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency	.	139
HP:0001260	HP:0001260	Dysarthria	0	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040284 - Very rare	118
HP:0001260	HP:0001260	Dysarthria	0	CISD2 CL E G H	493856	24212	ORPHA:3463	Wolfram syndrome	HP:0040282 - Frequent	3
HP:0001260	HP:0001260	Dysarthria	0	CLDN11 CL E G H	5010	8514	OMIM:619328	Leukodystrophy, hypomyelinating, 22
HP:0001260	HP:0001260	Dysarthria	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001260	HP:0001260	Dysarthria	0	CLN3 CL E G H	1201	2074	OMIM:204200	Ceroid lipofuscinosis, neuronal, 3	.	216
HP:0001260	HP:0001260	Dysarthria	0	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease		216
HP:0001260	HP:0001260	Dysarthria	0	CLN5 CL E G H	1203	2076	OMIM:256731	Ceroid lipofuscinosis, neuronal, 5	HP:0040283 - Occasional	141
HP:0001260	HP:0001260	Dysarthria	0	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia		38
HP:0001260	HP:0001260	Dysarthria	0	CNOT1 CL E G H	23019	7877	OMIM:619033	VISSERS-BODMER SYNDROME; VIBOS		2
HP:0001260	HP:0001260	Dysarthria	0	COA7 CL E G H	65260	25716	OMIM:618387	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3	.
HP:0001260	HP:0001260	Dysarthria	0	COA8 CL E G H	84334	20492	OMIM:619061	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17; MC4DN17
HP:0001260	HP:0001260	Dysarthria	0	COASY CL E G H	80347	29932	ORPHA:397725	COASY protein-associated neurodegeneration	HP:0040281 - Very frequent	16
HP:0001260	HP:0001260	Dysarthria	0	COASY CL E G H	80347	29932	OMIM:615643	Neurodegeneration with brain iron accumulation 6	.	16
HP:0001260	HP:0001260	Dysarthria	0	COLQ CL E G H	8292	2226	OMIM:603034	Myasthenic syndrome, congenital, 5	.	90
HP:0001260	HP:0001260	Dysarthria	0	COQ2 CL E G H	27235	25223	OMIM:607426	Coenzyme Q10 deficiency, primary, 1	.	54
HP:0001260	HP:0001260	Dysarthria	0	COQ2 CL E G H	27235	25223	OMIM:146500	Multiple system atrophy 1, susceptibility to	.	54
HP:0001260	HP:0001260	Dysarthria	0	COQ2 CL E G H	27235	25223	ORPHA:227510	Multiple system atrophy, cerebellar type	HP:0040282 - Frequent	54
HP:0001260	HP:0001260	Dysarthria	0	COQ2 CL E G H	27235	25223	ORPHA:98933	Multiple system atrophy, parkinsonian type	HP:0040283 - Occasional	54
HP:0001260	HP:0001260	Dysarthria	0	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	104
HP:0001260	HP:0001260	Dysarthria	0	COX20 CL E G H	116228	26970	OMIM:619054	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11		25
HP:0001260	HP:0001260	Dysarthria	0	CP CL E G H	1356	2295	OMIM:604290	ACERULOPLASMINEMIA	.	115
HP:0001260	HP:0001260	Dysarthria	0	CP CL E G H	1356	2295	ORPHA:48818	Aceruloplasminemia	HP:0040282 - Frequent	115
HP:0001260	HP:0001260	Dysarthria	0	CPLX1 CL E G H	10815	2309	ORPHA:352582	Familial infantile myoclonic epilepsy	HP:0040282 - Frequent	1
HP:0001260	HP:0001260	Dysarthria	0	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis	.	149
HP:0001260	HP:0001260	Dysarthria	0	CSF1R CL E G H	1436	2433	OMIM:221820	Leukoencephalopathy, diffuse hereditary, with spheroids		149
HP:0001260	HP:0001260	Dysarthria	0	CSTB CL E G H	1476	2482	OMIM:254800	Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)	.	51
HP:0001260	HP:0001260	Dysarthria	0	CSTB CL E G H	1476	2482	ORPHA:308	Progressive myoclonic epilepsy type 1	HP:0040282 - Frequent	51
HP:0001260	HP:0001260	Dysarthria	0	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts	.	160
HP:0001260	HP:0001260	Dysarthria	0	CTSF CL E G H	8722	2531	OMIM:615362	Ceroid lipofuscinosis, neuronal, 13	.	20
HP:0001260	HP:0001260	Dysarthria	0	CWF19L1 CL E G H	55280	25613	ORPHA:453521	Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency	HP:0040282 - Frequent	9
HP:0001260	HP:0001260	Dysarthria	0	CWF19L1 CL E G H	55280	25613	OMIM:616127	Spinocerebellar ataxia, autosomal recessive 17	.	9
HP:0001260	HP:0001260	Dysarthria	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040282 - Frequent	114
HP:0001260	HP:0001260	Dysarthria	0	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis		114
HP:0001260	HP:0001260	Dysarthria	0	CYP7B1 CL E G H	9420	2652	ORPHA:100986	Autosomal recessive spastic paraplegia type 5A	HP:0040284 - Very rare	57
HP:0001260	HP:0001260	Dysarthria	0	CYP7B1 CL E G H	9420	2652	OMIM:270800	Spastic paraplegia 5A, autosomal recessive	.	57
HP:0001260	HP:0001260	Dysarthria	0	DAB1 CL E G H	1600	2661	OMIM:615945	Spinocerebellar ataxia 37	.	4
HP:0001260	HP:0001260	Dysarthria	0	DARS1 CL E G H	1615	2678	OMIM:615281	HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0001260	HP:0001260	Dysarthria	0	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	HP:0040282 - Frequent	60
HP:0001260	HP:0001260	Dysarthria	0	DARS2 CL E G H	55157	25538	OMIM:611105	Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation	HP:0040283 - Occasional	60
HP:0001260	HP:0001260	Dysarthria	0	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome	HP:0040281 - Very frequent	87
HP:0001260	HP:0001260	Dysarthria	0	DCAF17 CL E G H	80067	25784	OMIM:241080	Woodhouse-Sakati syndrome	.	87
HP:0001260	HP:0001260	Dysarthria	0	DCC CL E G H	1630	2701	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	36
HP:0001260	HP:0001260	Dysarthria	0	DCTN1 CL E G H	1639	2711	OMIM:105400	Amyotrophic lateral sclerosis 1	.	86
HP:0001260	HP:0001260	Dysarthria	0	DCTN1 CL E G H	1639	2711	OMIM:168605	Perry syndrome	.	86
HP:0001260	HP:0001260	Dysarthria	0	DCX CL E G H	1641	2714	OMIM:300067	Lissencephaly, X-linked, 1	.	145
HP:0001260	HP:0001260	Dysarthria	0	DDHD2 CL E G H	23259	29106	ORPHA:320380	Autosomal recessive spastic paraplegia type 54	HP:0040282 - Frequent	29
HP:0001260	HP:0001260	Dysarthria	0	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive	.	29
HP:0001260	HP:0001260	Dysarthria	0	DEGS1 CL E G H	8560	13709	OMIM:618404	Leukodystrophy, hypomyelinating, 18	.
HP:0001260	HP:0001260	Dysarthria	0	DLAT CL E G H	1737	2896	ORPHA:79244	Pyruvate dehydrogenase E2 deficiency	HP:0040282 - Frequent	82
HP:0001260	HP:0001260	Dysarthria	0	DMXL2 CL E G H	23312	2938	OMIM:616113	Polyendocrine-Polyneuropathy syndrome	.	3
HP:0001260	HP:0001260	Dysarthria	0	DMXL2 CL E G H	23312	2938	ORPHA:453533	Polyendocrine-polyneuropathy syndrome	HP:0040282 - Frequent	3
HP:0001260	HP:0001260	Dysarthria	0	DNAJB6 CL E G H	10049	14888	ORPHA:34516	DNAJB6-related limb-girdle muscular dystrophy D1	HP:0040282 - Frequent	103
HP:0001260	HP:0001260	Dysarthria	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001260	HP:0001260	Dysarthria	0	DNAJC6 CL E G H	9829	15469	OMIM:615528	Parkinson disease 19a, juvenile-onset	.	6
HP:0001260	HP:0001260	Dysarthria	0	DRD3 CL E G H	1814	3024	OMIM:190300	Tremor, hereditary essential, 1	.	21
HP:0001260	HP:0001260	Dysarthria	0	DUSP6 CL E G H	1848	3072	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	4
HP:0001260	HP:0001260	Dysarthria	0	DYNC1I2 CL E G H	1781	2964	OMIM:618492	Neurodevelopmental disorder with microcephaly and structural brain anomalies		1
HP:0001260	HP:0001260	Dysarthria	0	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0001260	HP:0001260	Dysarthria	0	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	33
HP:0001260	HP:0001260	Dysarthria	0	EEF2 CL E G H	1938	3214	OMIM:609306	Spinocerebellar ataxia 26	.	4
HP:0001260	HP:0001260	Dysarthria	0	EEF2 CL E G H	1938	3214	ORPHA:101112	Spinocerebellar ataxia type 26	HP:0040281 - Very frequent	4
HP:0001260	HP:0001260	Dysarthria	0	EIF2AK1 CL E G H	27102	24921	OMIM:618878	LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME; LEMSPAD
HP:0001260	HP:0001260	Dysarthria	0	EIF2AK2 CL E G H	5610	9437	OMIM:618877	LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0001260	HP:0001260	Dysarthria	0	EIF2B1 CL E G H	1967	3257	OMIM:603896	Leukoencephalopathy with vanishing white matter	.	42
HP:0001260	HP:0001260	Dysarthria	0	EIF2B2 CL E G H	8892	3258	OMIM:603896	Leukoencephalopathy with vanishing white matter	.	24
HP:0001260	HP:0001260	Dysarthria	0	EIF2B3 CL E G H	8891	3259	OMIM:603896	Leukoencephalopathy with vanishing white matter	.	32
HP:0001260	HP:0001260	Dysarthria	0	EIF2B4 CL E G H	8890	3260	OMIM:603896	Leukoencephalopathy with vanishing white matter	.	38
HP:0001260	HP:0001260	Dysarthria	0	EIF2B5 CL E G H	8893	3261	OMIM:603896	Leukoencephalopathy with vanishing white matter	.	48
HP:0001260	HP:0001260	Dysarthria	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001260	HP:0001260	Dysarthria	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	172
HP:0001260	HP:0001260	Dysarthria	0	ELOVL1 CL E G H	64834	14418	OMIM:618527	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features	.
HP:0001260	HP:0001260	Dysarthria	0	ELOVL4 CL E G H	6785	14415	OMIM:133190	Spinocerebellar ataxia 34	.	62
HP:0001260	HP:0001260	Dysarthria	0	ELOVL4 CL E G H	6785	14415	ORPHA:1955	Spinocerebellar ataxia type 34	HP:0040281 - Very frequent	62
HP:0001260	HP:0001260	Dysarthria	0	ELOVL5 CL E G H	60481	21308	OMIM:615957	Spinocerebellar ataxia 38	.	4
HP:0001260	HP:0001260	Dysarthria	0	ELOVL5 CL E G H	60481	21308	ORPHA:423296	Spinocerebellar ataxia type 38	HP:0040281 - Very frequent	4
HP:0001260	HP:0001260	Dysarthria	0	EMC10 CL E G H	284361	27609	OMIM:619264	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES; NEDDFAS
HP:0001260	HP:0001260	Dysarthria	0	ENTPD1 CL E G H	953	3363	ORPHA:401810	Autosomal recessive spastic paraplegia type 64	HP:0040282 - Frequent	3
HP:0001260	HP:0001260	Dysarthria	0	ENTPD1 CL E G H	953	3363	OMIM:615683	Spastic paraplegia 64, autosomal recessive		3
HP:0001260	HP:0001260	Dysarthria	0	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	170
HP:0001260	HP:0001260	Dysarthria	0	EPM2A CL E G H	7957	3413	ORPHA:501	Lafora disease	HP:0040282 - Frequent	83
HP:0001260	HP:0001260	Dysarthria	0	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15
HP:0001260	HP:0001260	Dysarthria	0	ERBB3 CL E G H	2065	3431	OMIM:243180	Visceral neuropathy, familial, autosomal recessive	.	12
HP:0001260	HP:0001260	Dysarthria	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	106
HP:0001260	HP:0001260	Dysarthria	0	ERCC2 CL E G H	2068	3434	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040282 - Frequent	106
HP:0001260	HP:0001260	Dysarthria	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	54
HP:0001260	HP:0001260	Dysarthria	0	ERCC3 CL E G H	2071	3435	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040282 - Frequent	54
HP:0001260	HP:0001260	Dysarthria	0	ERCC4 CL E G H	2072	3436	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040282 - Frequent	158
HP:0001260	HP:0001260	Dysarthria	0	ERCC5 CL E G H	2073	3437	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040282 - Frequent	83
HP:0001260	HP:0001260	Dysarthria	0	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A	.	55
HP:0001260	HP:0001260	Dysarthria	0	ERLIN1 CL E G H	10613	16947	ORPHA:401785	Autosomal recessive spastic paraplegia type 62	HP:0040282 - Frequent	2
HP:0001260	HP:0001260	Dysarthria	0	ERLIN1 CL E G H	10613	16947	OMIM:615681	Spastic paraplegia 62, autosomal recessive		2
HP:0001260	HP:0001260	Dysarthria	0	ERLIN2 CL E G H	11160	1356	ORPHA:247604	Juvenile primary lateral sclerosis		18
HP:0001260	HP:0001260	Dysarthria	0	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0001260	HP:0001260	Dysarthria	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.	81
HP:0001260	HP:0001260	Dysarthria	0	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35	HP:0040282 - Frequent	76
HP:0001260	HP:0001260	Dysarthria	0	FA2H CL E G H	79152	21197	ORPHA:329308	Fatty acid hydroxylase-associated neurodegeneration	HP:0040282 - Frequent	76
HP:0001260	HP:0001260	Dysarthria	0	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive	.	76
HP:0001260	HP:0001260	Dysarthria	0	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	15
HP:0001260	HP:0001260	Dysarthria	0	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A		7
HP:0001260	HP:0001260	Dysarthria	0	FAR1 CL E G H	84188	26222	OMIM:619338	CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY; CSPSD		7
HP:0001260	HP:0001260	Dysarthria	0	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77	HP:0040282 - Frequent	36
HP:0001260	HP:0001260	Dysarthria	0	FAT2 CL E G H	2196	3596	OMIM:617769	Spinocerebellar ataxia 45	.	2
HP:0001260	HP:0001260	Dysarthria	0	FBLN1 CL E G H	2192	3600	ORPHA:404451	FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome	HP:0040282 - Frequent	12
HP:0001260	HP:0001260	Dysarthria	0	FBXL3 CL E G H	26224	13599	OMIM:606220	Intellectual developmental disorder with short stature, facial anomalies, and speech defects	.
HP:0001260	HP:0001260	Dysarthria	0	FBXO7 CL E G H	25793	13586	OMIM:260300	Parkinson disease 15, autosomal recessive early-onset	.	36
HP:0001260	HP:0001260	Dysarthria	0	FEZF1 CL E G H	389549	22788	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	2
HP:0001260	HP:0001260	Dysarthria	0	FGF14 CL E G H	2259	3671	OMIM:193003	Nystagmus 4, congenital, autosomal dominant		47
HP:0001260	HP:0001260	Dysarthria	0	FGF14 CL E G H	2259	3671	ORPHA:98764	Spinocerebellar ataxia type 27	HP:0040281 - Very frequent	47
HP:0001260	HP:0001260	Dysarthria	0	FGF17 CL E G H	8822	3673	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	3
HP:0001260	HP:0001260	Dysarthria	0	FGF8 CL E G H	2253	3686	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	17
HP:0001260	HP:0001260	Dysarthria	0	FGFR1 CL E G H	2260	3688	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	172
HP:0001260	HP:0001260	Dysarthria	0	FIG4 CL E G H	9896	16873	ORPHA:208441	Bilateral parasagittal parieto-occipital polymicrogyria		111
HP:0001260	HP:0001260	Dysarthria	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001260	HP:0001260	Dysarthria	0	FLRT1 CL E G H	23769	3760	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome	HP:0040282 - Frequent
HP:0001260	HP:0001260	Dysarthria	0	FLRT3 CL E G H	23767	3762	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	4
HP:0001260	HP:0001260	Dysarthria	0	FMR1 CL E G H	2332	3775	OMIM:300623	Fragile X tremor/ataxia syndrome		30
HP:0001260	HP:0001260	Dysarthria	0	FMR1 CL E G H	2332	3775	ORPHA:93256	Fragile X-associated tremor/ataxia syndrome	HP:0040281 - Very frequent	30
HP:0001260	HP:0001260	Dysarthria	0	FOXP2 CL E G H	93986	13875	ORPHA:209908	Childhood apraxia of speech	HP:0040282 - Frequent	143
HP:0001260	HP:0001260	Dysarthria	0	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	61
HP:0001260	HP:0001260	Dysarthria	0	FTL CL E G H	2512	3999	OMIM:606159	Neurodegeneration with brain iron accumulation 3		33
HP:0001260	HP:0001260	Dysarthria	0	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy	HP:0040282 - Frequent	33
HP:0001260	HP:0001260	Dysarthria	0	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	105
HP:0001260	HP:0001260	Dysarthria	0	FUZ CL E G H	80199	26219	ORPHA:1136	Arnold-Chiari malformation type II	HP:0040283 - Occasional	3
HP:0001260	HP:0001260	Dysarthria	0	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia	HP:0040281 - Very frequent	18
HP:0001260	HP:0001260	Dysarthria	0	FXN CL E G H	2395	3951	OMIM:229300	Friedreich ataxia 1	.	18
HP:0001260	HP:0001260	Dysarthria	0	GALC CL E G H	2581	4115	ORPHA:206443	Late-infantile/juvenile Krabbe disease	HP:0040283 - Occasional	160
HP:0001260	HP:0001260	Dysarthria	0	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia	HP:0040283 - Occasional	351
HP:0001260	HP:0001260	Dysarthria	0	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive	.	121
HP:0001260	HP:0001260	Dysarthria	0	GBA1 CL E G H	2629	4177	OMIM:168600	Parkinson disease, late-onset	.
HP:0001260	HP:0001260	Dysarthria	0	GBA2 CL E G H	57704	18986	ORPHA:352641	Autosomal recessive cerebellar ataxia with late-onset spasticity		30
HP:0001260	HP:0001260	Dysarthria	0	GBA2 CL E G H	57704	18986	ORPHA:320391	Autosomal recessive spastic paraplegia type 46		30
HP:0001260	HP:0001260	Dysarthria	0	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive	.	30
HP:0001260	HP:0001260	Dysarthria	0	GBF1 CL E G H	8729	4181	OMIM:606483	Charcot-Marie-Tooth disease, dominant intermediate A
HP:0001260	HP:0001260	Dysarthria	0	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency	HP:0040282 - Frequent	115
HP:0001260	HP:0001260	Dysarthria	0	GCH1 CL E G H	2643	4193	OMIM:128230	Dystonia, DOPA-responsive, with or without hyperphenylalaninemia		86
HP:0001260	HP:0001260	Dysarthria	0	GCLC CL E G H	2729	4311	ORPHA:33574	Glutamate-cysteine ligase deficiency	HP:0040283 - Occasional	2
HP:0001260	HP:0001260	Dysarthria	0	GDAP2 CL E G H	54834	18010	OMIM:618369	Spinocerebellar ataxia, autosomal recessive 27	.
HP:0001260	HP:0001260	Dysarthria	0	GFAP CL E G H	2670	4235	OMIM:203450	Alexander disease		188
HP:0001260	HP:0001260	Dysarthria	0	GFAP CL E G H	2670	4235	ORPHA:363717	Alexander disease type I		188
HP:0001260	HP:0001260	Dysarthria	0	GFAP CL E G H	2670	4235	ORPHA:363722	Alexander disease type II		188
HP:0001260	HP:0001260	Dysarthria	0	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39	HP:0040283 - Occasional	43
HP:0001260	HP:0001260	Dysarthria	0	GFM2 CL E G H	84340	29682	OMIM:618397	Combined oxidative phosphorylation deficiency 39	.	43
HP:0001260	HP:0001260	Dysarthria	0	GFPT1 CL E G H	2673	4241	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency	.	128
HP:0001260	HP:0001260	Dysarthria	0	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy
HP:0001260	HP:0001260	Dysarthria	0	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia	.	68
HP:0001260	HP:0001260	Dysarthria	0	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040282 - Frequent	68
HP:0001260	HP:0001260	Dysarthria	0	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1	.	107
HP:0001260	HP:0001260	Dysarthria	0	GJB1 CL E G H	2705	4283	ORPHA:101075	X-linked Charcot-Marie-Tooth disease type 1	HP:0040283 - Occasional	107
HP:0001260	HP:0001260	Dysarthria	0	GJB1 CL E G H	2705	4283	ORPHA:1175	X-linked progressive cerebellar ataxia		107
HP:0001260	HP:0001260	Dysarthria	0	GJC2 CL E G H	57165	17494	ORPHA:320401	Autosomal recessive spastic paraplegia type 44	HP:0040281 - Very frequent	37
HP:0001260	HP:0001260	Dysarthria	0	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2	.	37
HP:0001260	HP:0001260	Dysarthria	0	GJC2 CL E G H	57165	17494	OMIM:613206	Spastic paraplegia 44, autosomal recessive	.	37
HP:0001260	HP:0001260	Dysarthria	0	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease	.	45
HP:0001260	HP:0001260	Dysarthria	0	GLRX5 CL E G H	51218	20134	ORPHA:401866	Childhood-onset spasticity with hyperglycinemia		17
HP:0001260	HP:0001260	Dysarthria	0	GLRX5 CL E G H	51218	20134	OMIM:616859	Spasticity, childhood-onset, with hyperglycinemia		17
HP:0001260	HP:0001260	Dysarthria	0	GLUD2 CL E G H	2747	4336	OMIM:168600	Parkinson disease, late-onset	.	1
HP:0001260	HP:0001260	Dysarthria	0	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID	.	69
HP:0001260	HP:0001260	Dysarthria	0	GOSR2 CL E G H	9570	4431	OMIM:614018	Epilepsy, progressive myoclonic, 6	.	88
HP:0001260	HP:0001260	Dysarthria	0	GPAA1 CL E G H	8733	4446	OMIM:617810	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15
HP:0001260	HP:0001260	Dysarthria	0	GPAA1 CL E G H	8733	4446	ORPHA:529665	Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome	HP:0040282 - Frequent
HP:0001260	HP:0001260	Dysarthria	0	GPT2 CL E G H	84706	18062	OMIM:616281	Mental retardation, autosomal recessive 49	.	4
HP:0001260	HP:0001260	Dysarthria	0	GPT2 CL E G H	84706	18062	ORPHA:477673	Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome	HP:0040282 - Frequent	4
HP:0001260	HP:0001260	Dysarthria	0	GRHL3 CL E G H	57822	25839	ORPHA:99771	Bifid uvula		12
HP:0001260	HP:0001260	Dysarthria	0	GRIA1 CL E G H	2890	4571	OMIM:619927			3
HP:0001260	HP:0001260	Dysarthria	0	GRID2 CL E G H	2895	4576	OMIM:616204	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR18		18
HP:0001260	HP:0001260	Dysarthria	0	GRIN2A CL E G H	2903	4585	ORPHA:163721	Rolandic epilepsy-speech dyspraxia syndrome	HP:0040283 - Occasional	434
HP:0001260	HP:0001260	Dysarthria	0	GRM1 CL E G H	2911	4593	OMIM:617691	SPINOCEREBELLAR ATAXIA 44; SCA44		8
HP:0001260	HP:0001260	Dysarthria	0	GRM1 CL E G H	2911	4593	OMIM:614831	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13		8
HP:0001260	HP:0001260	Dysarthria	0	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis	HP:0040283 - Occasional	53
HP:0001260	HP:0001260	Dysarthria	0	GSS CL E G H	2937	4624	OMIM:266130	Glutathione synthetase deficiency	.	39
HP:0001260	HP:0001260	Dysarthria	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	2
HP:0001260	HP:0001260	Dysarthria	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0001260	HP:0001260	Dysarthria	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0001260	HP:0001260	Dysarthria	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0001260	HP:0001260	Dysarthria	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0001260	HP:0001260	Dysarthria	0	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome	HP:0040282 - Frequent	10
HP:0001260	HP:0001260	Dysarthria	0	HEPACAM CL E G H	220296	26361	OMIM:613925	Megalencephalic leukoencephalopathy with subcortical cysts 2A	.	82
HP:0001260	HP:0001260	Dysarthria	0	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0001260	HP:0001260	Dysarthria	0	HESX1 CL E G H	8820	4877	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	21
HP:0001260	HP:0001260	Dysarthria	0	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease	.	80
HP:0001260	HP:0001260	Dysarthria	0	HEXB CL E G H	3074	4879	ORPHA:309169	Sandhoff disease, adult form		80
HP:0001260	HP:0001260	Dysarthria	0	HEXB CL E G H	3074	4879	ORPHA:309162	Sandhoff disease, juvenile form		80
HP:0001260	HP:0001260	Dysarthria	0	HHAT CL E G H	55733	18270	OMIM:600092	Nivelon-Nivelon-Mabille syndrome
HP:0001260	HP:0001260	Dysarthria	0	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria		81
HP:0001260	HP:0001260	Dysarthria	0	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria	HP:0040284 - Very rare	35
HP:0001260	HP:0001260	Dysarthria	0	HOXB1 CL E G H	3211	5111	OMIM:614744	Facial paresis, hereditary congenital, 3	.	2
HP:0001260	HP:0001260	Dysarthria	0	HPCA CL E G H	3208	5144	OMIM:224500	Dystonia 2, torsion, autosomal recessive	.	4
HP:0001260	HP:0001260	Dysarthria	0	HPCA CL E G H	3208	5144	ORPHA:99657	Primary dystonia, DYT2 type	HP:0040282 - Frequent	4
HP:0001260	HP:0001260	Dysarthria	0	HPRT1 CL E G H	3251	5157	OMIM:300322	Lesch-Nyhan syndrome	.	76
HP:0001260	HP:0001260	Dysarthria	0	HS6ST1 CL E G H	9394	5201	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	8
HP:0001260	HP:0001260	Dysarthria	0	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type	HP:0040283 - Occasional	19
HP:0001260	HP:0001260	Dysarthria	0	HSD17B10 CL E G H	3028	4800	OMIM:300438	HSD10 mitochondrial disease	.	19
HP:0001260	HP:0001260	Dysarthria	0	HSD17B4 CL E G H	3295	5213	OMIM:233400	Perrault syndrome 1	HP:0040283 - Occasional	98
HP:0001260	HP:0001260	Dysarthria	0	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)	.	34
HP:0001260	HP:0001260	Dysarthria	0	HTRA1 CL E G H	5654	9476	ORPHA:199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy		34
HP:0001260	HP:0001260	Dysarthria	0	HYCC1 CL E G H	84668	24587	OMIM:610532	Leukodystrophy, hypomyelinating, 5	.
HP:0001260	HP:0001260	Dysarthria	0	IFRD1 CL E G H	3475	5456	ORPHA:98771	Spinocerebellar ataxia type 18	HP:0040282 - Frequent	1
HP:0001260	HP:0001260	Dysarthria	0	IL17RD CL E G H	54756	17616	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	9
HP:0001260	HP:0001260	Dysarthria	0	INPP5K CL E G H	51763	33882	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040281 - Very frequent	7
HP:0001260	HP:0001260	Dysarthria	0	IRF2BPL CL E G H	64207	14282	OMIM:618088	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	.
HP:0001260	HP:0001260	Dysarthria	0	ITPR1 CL E G H	3708	6180	OMIM:606658	Spinocerebellar ataxia 15	.	177
HP:0001260	HP:0001260	Dysarthria	0	ITPR1 CL E G H	3708	6180	OMIM:117360	Spinocerebellar ataxia 29	.	177
HP:0001260	HP:0001260	Dysarthria	0	ITPR1 CL E G H	3708	6180	ORPHA:208513	Spinocerebellar ataxia type 29	HP:0040281 - Very frequent	177
HP:0001260	HP:0001260	Dysarthria	0	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis	HP:0040283 - Occasional	57
HP:0001260	HP:0001260	Dysarthria	0	JAM2 CL E G H	58494	14686	OMIM:618824	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8
HP:0001260	HP:0001260	Dysarthria	0	JPH3 CL E G H	57338	14203	OMIM:606438	Huntington disease-like 2	.	2
HP:0001260	HP:0001260	Dysarthria	0	KCNA1 CL E G H	3736	6218	ORPHA:37612	Episodic ataxia type 1	HP:0040282 - Frequent	145
HP:0001260	HP:0001260	Dysarthria	0	KCNA1 CL E G H	3736	6218	OMIM:160120	Episodic ataxia, type 1	.	145
HP:0001260	HP:0001260	Dysarthria	0	KCNA1 CL E G H	3736	6218	ORPHA:972	Hereditary continuous muscle fiber activity	HP:0040282 - Frequent	145
HP:0001260	HP:0001260	Dysarthria	0	KCNA4 CL E G H	3739	6222	OMIM:618284	Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum	.
HP:0001260	HP:0001260	Dysarthria	0	KCNC3 CL E G H	3748	6235	OMIM:605259	Spinocerebellar ataxia 13	.	17
HP:0001260	HP:0001260	Dysarthria	0	KCNC3 CL E G H	3748	6235	ORPHA:98768	Spinocerebellar ataxia type 13	HP:0040282 - Frequent	17
HP:0001260	HP:0001260	Dysarthria	0	KCND3 CL E G H	3752	6239	OMIM:607346	Spinocerebellar ataxia 19	.	35
HP:0001260	HP:0001260	Dysarthria	0	KCND3 CL E G H	3752	6239	ORPHA:98772	Spinocerebellar ataxia type 19/22	HP:0040283 - Occasional	35
HP:0001260	HP:0001260	Dysarthria	0	KCTD17 CL E G H	79734	25705	OMIM:616398	Dystonia 26, myoclonic	.	1
HP:0001260	HP:0001260	Dysarthria	0	KCTD7 CL E G H	154881	21957	OMIM:611726	Epilepsy, progressive myoclonic 3, with or without intracellular inclusions		106
HP:0001260	HP:0001260	Dysarthria	0	KCTD7 CL E G H	154881	21957	ORPHA:263516	Progressive myoclonic epilepsy type 3	HP:0040282 - Frequent	106
HP:0001260	HP:0001260	Dysarthria	0	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1		53
HP:0001260	HP:0001260	Dysarthria	0	KIF1C CL E G H	10749	6317	ORPHA:397946	Autosomal spastic paraplegia type 58	HP:0040281 - Very frequent	38
HP:0001260	HP:0001260	Dysarthria	0	KIF1C CL E G H	10749	6317	OMIM:611302	Spastic ataxia 2, autosomal recessive	.	38
HP:0001260	HP:0001260	Dysarthria	0	KLC2 CL E G H	64837	20716	OMIM:609541	Spastic paraplegia, optic atrophy, and neuropathy	.	1
HP:0001260	HP:0001260	Dysarthria	0	KLC2 CL E G H	64837	20716	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome	HP:0040282 - Frequent	1
HP:0001260	HP:0001260	Dysarthria	0	KMT2B CL E G H	9757	15840	ORPHA:589618	Dystonia 28		11
HP:0001260	HP:0001260	Dysarthria	0	KMT2B CL E G H	9757	15840	OMIM:617284	Dystonia 28, childhood-onset	.	11
HP:0001260	HP:0001260	Dysarthria	0	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1		660
HP:0001260	HP:0001260	Dysarthria	0	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040283 - Occasional	196
HP:0001260	HP:0001260	Dysarthria	0	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	196
HP:0001260	HP:0001260	Dysarthria	0	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	196
HP:0001260	HP:0001260	Dysarthria	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001260	HP:0001260	Dysarthria	0	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	21
HP:0001260	HP:0001260	Dysarthria	0	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy	HP:0040283 - Occasional	44
HP:0001260	HP:0001260	Dysarthria	0	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant		44
HP:0001260	HP:0001260	Dysarthria	0	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0001260	HP:0001260	Dysarthria	0	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8	.	10
HP:0001260	HP:0001260	Dysarthria	0	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	43
HP:0001260	HP:0001260	Dysarthria	0	MAG CL E G H	4099	6783	OMIM:616680	Spastic paraplegia 75, autosomal recessive		4
HP:0001260	HP:0001260	Dysarthria	0	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis	.	136
HP:0001260	HP:0001260	Dysarthria	0	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040283 - Occasional	134
HP:0001260	HP:0001260	Dysarthria	0	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040283 - Occasional	178
HP:0001260	HP:0001260	Dysarthria	0	MAPT CL E G H	4137	6893	ORPHA:240071	Classic progressive supranuclear palsy syndrome	HP:0040282 - Frequent	140
HP:0001260	HP:0001260	Dysarthria	0	MAPT CL E G H	4137	6893	OMIM:168600	Parkinson disease, late-onset	.	140
HP:0001260	HP:0001260	Dysarthria	0	MAPT CL E G H	4137	6893	ORPHA:240103	Progressive supranuclear palsy-corticobasal syndrome	HP:0040282 - Frequent	140
HP:0001260	HP:0001260	Dysarthria	0	MAPT CL E G H	4137	6893	ORPHA:240094	Progressive supranuclear palsy-pure akinesia with gait freezing syndrome		140
HP:0001260	HP:0001260	Dysarthria	0	MAPT CL E G H	4137	6893	OMIM:601104	Supranuclear palsy, progressive, 1	.	140
HP:0001260	HP:0001260	Dysarthria	0	MARS2 CL E G H	92935	25133	ORPHA:314603	Autosomal recessive spastic ataxia with leukoencephalopathy		25
HP:0001260	HP:0001260	Dysarthria	0	MARS2 CL E G H	92935	25133	OMIM:611390	Spastic ataxia 3, autosomal recessive		25
HP:0001260	HP:0001260	Dysarthria	0	MATR3 CL E G H	9782	6912	OMIM:606070	Amyotrophic lateral sclerosis 21	.	80
HP:0001260	HP:0001260	Dysarthria	0	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy	HP:0040282 - Frequent	80
HP:0001260	HP:0001260	Dysarthria	0	MECR CL E G H	51102	19691	OMIM:617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities	.	6
HP:0001260	HP:0001260	Dysarthria	0	MECR CL E G H	51102	19691	ORPHA:508093	MEPAN syndrome		6
HP:0001260	HP:0001260	Dysarthria	0	MED13L CL E G H	23389	22962	OMIM:616789	Mental retardation and distinctive facial features with or without cardiac defects		74
HP:0001260	HP:0001260	Dysarthria	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0001260	HP:0001260	Dysarthria	0	MICOS13 CL E G H	125988	33702	ORPHA:67047	3-methylglutaconic aciduria type 3	HP:0040282 - Frequent
HP:0001260	HP:0001260	Dysarthria	0	MKS1 CL E G H	54903	7121	OMIM:617121	JOUBERT SYNDROME 28; JBTS28		127
HP:0001260	HP:0001260	Dysarthria	0	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	1819
HP:0001260	HP:0001260	Dysarthria	0	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	131
HP:0001260	HP:0001260	Dysarthria	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0001260	HP:0001260	Dysarthria	0	MME CL E G H	4311	7154	OMIM:617018	SPINOCEREBELLAR ATAXIA 43; SCA43		18
HP:0001260	HP:0001260	Dysarthria	0	MME CL E G H	4311	7154	ORPHA:497764	Spinocerebellar ataxia type 43	HP:0040282 - Frequent	18
HP:0001260	HP:0001260	Dysarthria	0	MMUT CL E G H	4594	7526	ORPHA:79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-	HP:0040282 - Frequent
HP:0001260	HP:0001260	Dysarthria	0	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis	HP:0040283 - Occasional	97
HP:0001260	HP:0001260	Dysarthria	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	9
HP:0001260	HP:0001260	Dysarthria	0	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0001260	HP:0001260	Dysarthria	0	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder	HP:0040282 - Frequent	532
HP:0001260	HP:0001260	Dysarthria	0	MRE11 CL E G H	4361	7230	OMIM:604391	Ataxia-Telangiectasia-Like disorder 1	.	532
HP:0001260	HP:0001260	Dysarthria	0	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	2162
HP:0001260	HP:0001260	Dysarthria	0	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	2232
HP:0001260	HP:0001260	Dysarthria	0	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	29
HP:0001260	HP:0001260	Dysarthria	0	MTPAP CL E G H	55149	25532	ORPHA:254343	Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome	HP:0040281 - Very frequent	19
HP:0001260	HP:0001260	Dysarthria	0	MTPAP CL E G H	55149	25532	OMIM:613672	Spastic ataxia 4, autosomal recessive	.	19
HP:0001260	HP:0001260	Dysarthria	0	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7	HP:0040283 - Occasional
HP:0001260	HP:0001260	Dysarthria	0	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7	.
HP:0001260	HP:0001260	Dysarthria	0	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040283 - Occasional	81
HP:0001260	HP:0001260	Dysarthria	0	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria		150
HP:0001260	HP:0001260	Dysarthria	0	MYORG CL E G H	57462	19918	OMIM:618317	Basal ganglia calcification, idiopathic, 7, autosomal recessive	.
HP:0001260	HP:0001260	Dysarthria	0	MYOT CL E G H	9499	12399	ORPHA:98911	Distal myotilinopathy	HP:0040282 - Frequent	75
HP:0001260	HP:0001260	Dysarthria	0	NARS2 CL E G H	79731	26274	OMIM:616239	Combined oxidative phosphorylation deficiency 24	HP:0040283 - Occasional	34
HP:0001260	HP:0001260	Dysarthria	0	NAXE CL E G H	128240	18453	OMIM:617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1		9
HP:0001260	HP:0001260	Dysarthria	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	13
HP:0001260	HP:0001260	Dysarthria	0	NDNF CL E G H	79625	26256	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional
HP:0001260	HP:0001260	Dysarthria	0	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	91
HP:0001260	HP:0001260	Dysarthria	0	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	7
HP:0001260	HP:0001260	Dysarthria	0	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	3
HP:0001260	HP:0001260	Dysarthria	0	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	19
HP:0001260	HP:0001260	Dysarthria	0	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	4
HP:0001260	HP:0001260	Dysarthria	0	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33		1
HP:0001260	HP:0001260	Dysarthria	0	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	27
HP:0001260	HP:0001260	Dysarthria	0	NDUFA9 CL E G H	4704	7693	OMIM:618247	Mitochondrial complex I deficiency, nuclear type 26	.	27
HP:0001260	HP:0001260	Dysarthria	0	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	26
HP:0001260	HP:0001260	Dysarthria	0	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	34
HP:0001260	HP:0001260	Dysarthria	0	NDUFAF5 CL E G H	79133	15899	OMIM:618238	Mitochondrial complex I deficiency, nuclear type 16		34
HP:0001260	HP:0001260	Dysarthria	0	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	39
HP:0001260	HP:0001260	Dysarthria	0	NDUFAF6 CL E G H	137682	28625	OMIM:618239	Mitochondrial complex I deficiency, nuclear type 17	.	39
HP:0001260	HP:0001260	Dysarthria	0	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	81
HP:0001260	HP:0001260	Dysarthria	0	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	65
HP:0001260	HP:0001260	Dysarthria	0	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	22
HP:0001260	HP:0001260	Dysarthria	0	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	27
HP:0001260	HP:0001260	Dysarthria	0	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	38
HP:0001260	HP:0001260	Dysarthria	0	NDUFS7 CL E G H	374291	7714	OMIM:618224	Mitochondrial complex I deficiency, nuclear type 3	.	38
HP:0001260	HP:0001260	Dysarthria	0	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	42
HP:0001260	HP:0001260	Dysarthria	0	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2	.	42
HP:0001260	HP:0001260	Dysarthria	0	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	74
HP:0001260	HP:0001260	Dysarthria	0	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	27
HP:0001260	HP:0001260	Dysarthria	0	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive		745
HP:0001260	HP:0001260	Dysarthria	0	NEFH CL E G H	4744	7737	OMIM:105400	Amyotrophic lateral sclerosis 1	.	24
HP:0001260	HP:0001260	Dysarthria	0	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F	HP:0040283 - Occasional	118
HP:0001260	HP:0001260	Dysarthria	0	NEK1 CL E G H	4750	7744	OMIM:617892	Amyotrophic lateral sclerosis, susceptibility to, 24	.	101
HP:0001260	HP:0001260	Dysarthria	0	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2	HP:0040283 - Occasional	220
HP:0001260	HP:0001260	Dysarthria	0	NFASC CL E G H	23114	29866	OMIM:618356	Neurodevelopmental disorder with central and peripheral motor dysfunction	.
HP:0001260	HP:0001260	Dysarthria	0	NHLRC1 CL E G H	378884	21576	ORPHA:501	Lafora disease	HP:0040282 - Frequent	77
HP:0001260	HP:0001260	Dysarthria	0	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome	HP:0040283 - Occasional	51
HP:0001260	HP:0001260	Dysarthria	0	NKX2-1 CL E G H	7080	11825	OMIM:118700	Chorea, benign hereditary	HP:0040283 - Occasional	51
HP:0001260	HP:0001260	Dysarthria	0	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress		51
HP:0001260	HP:0001260	Dysarthria	0	NKX6-2 CL E G H	84504	19321	ORPHA:527497	NKX6-2-related autosomal recessive hypomyelinating leukodystrophy	HP:0040282 - Frequent	2
HP:0001260	HP:0001260	Dysarthria	0	NKX6-2 CL E G H	84504	19321	OMIM:617560	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy	.	2
HP:0001260	HP:0001260	Dysarthria	0	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome		10
HP:0001260	HP:0001260	Dysarthria	0	NOP56 CL E G H	10528	15911	OMIM:614153	Spinocerebellar ataxia 36		9
HP:0001260	HP:0001260	Dysarthria	0	NOP56 CL E G H	10528	15911	ORPHA:276198	Spinocerebellar ataxia type 36	HP:0040281 - Very frequent	9
HP:0001260	HP:0001260	Dysarthria	0	NOTCH2NLC CL E G H	100996717	53924	OMIM:603472	NEURONAL INTRANUCLEAR INCLUSION DISEASE
HP:0001260	HP:0001260	Dysarthria	0	NOTCH2NLC CL E G H	100996717	53924	ORPHA:2289	Neuronal intranuclear inclusion disease	HP:0040281 - Very frequent
HP:0001260	HP:0001260	Dysarthria	0	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy
HP:0001260	HP:0001260	Dysarthria	0	NOTCH2NLC CL E G H	100996717	53924	OMIM:619473	OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0001260	HP:0001260	Dysarthria	0	NOTCH3 CL E G H	4854	7883	OMIM:125310	Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy		144
HP:0001260	HP:0001260	Dysarthria	0	NOTCH3 CL E G H	4854	7883	ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy	HP:0040283 - Occasional	144
HP:0001260	HP:0001260	Dysarthria	0	NPC1 CL E G H	4864	7897	OMIM:257220	Niemann-pick disease, type C1	.	258
HP:0001260	HP:0001260	Dysarthria	0	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2	.	33
HP:0001260	HP:0001260	Dysarthria	0	NPPA CL E G H	4878	7939	ORPHA:1344	Atrial standstill	HP:0040283 - Occasional	13
HP:0001260	HP:0001260	Dysarthria	0	NR4A2 CL E G H	4929	7981	OMIM:168600	Parkinson disease, late-onset	.	27
HP:0001260	HP:0001260	Dysarthria	0	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	102
HP:0001260	HP:0001260	Dysarthria	0	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5	.	84
HP:0001260	HP:0001260	Dysarthria	0	NUBPL CL E G H	80224	20278	OMIM:618242	Mitochondrial complex I deficiency, nuclear type 21	.	89
HP:0001260	HP:0001260	Dysarthria	0	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent	7
HP:0001260	HP:0001260	Dysarthria	0	NUS1 CL E G H	116150	21042	OMIM:617831	MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES; MRD55		1
HP:0001260	HP:0001260	Dysarthria	0	NUTM2B-AS1 CL E G H	101060691	51204	OMIM:618637	OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1; OPML1
HP:0001260	HP:0001260	Dysarthria	0	OPA1 CL E G H	4976	8140	OMIM:210000	Behr syndrome		214
HP:0001260	HP:0001260	Dysarthria	0	OPA3 CL E G H	80207	8142	ORPHA:67047	3-methylglutaconic aciduria type 3	HP:0040282 - Frequent	163
HP:0001260	HP:0001260	Dysarthria	0	OPA3 CL E G H	80207	8142	OMIM:258501	3-methylglutaconic aciduria, type III	.	163
HP:0001260	HP:0001260	Dysarthria	0	OPTN CL E G H	10133	17142	OMIM:613435	Amyotrophic lateral sclerosis 12	.	62
HP:0001260	HP:0001260	Dysarthria	0	PABPN1 CL E G H	8106	8565	OMIM:164300	Oculopharyngeal muscular dystrophy	.	10
HP:0001260	HP:0001260	Dysarthria	0	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	HP:0040283 - Occasional	24
HP:0001260	HP:0001260	Dysarthria	0	PANK2 CL E G H	80025	15894	ORPHA:216873	Atypical pantothenate kinase-associated neurodegeneration	HP:0040282 - Frequent	55
HP:0001260	HP:0001260	Dysarthria	0	PANK2 CL E G H	80025	15894	ORPHA:216866	Classic pantothenate kinase-associated neurodegeneration	HP:0040282 - Frequent	55
HP:0001260	HP:0001260	Dysarthria	0	PANK2 CL E G H	80025	15894	OMIM:607236	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration	.	55
HP:0001260	HP:0001260	Dysarthria	0	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1	.	55
HP:0001260	HP:0001260	Dysarthria	0	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	.
HP:0001260	HP:0001260	Dysarthria	0	PCNA CL E G H	5111	8729	OMIM:615919	Ataxia-Telangiectasia-Like disorder 2	.	1
HP:0001260	HP:0001260	Dysarthria	0	PDE10A CL E G H	10846	8772	OMIM:616921	Dyskinesia, limb and orofacial, infantile-onset		5
HP:0001260	HP:0001260	Dysarthria	0	PDE10A CL E G H	10846	8772	ORPHA:494526	Infantile-onset generalized dyskinesia with orofacial involvement	HP:0040282 - Frequent	5
HP:0001260	HP:0001260	Dysarthria	0	PDE8B CL E G H	8622	8794	ORPHA:228169	Autosomal dominant striatal neurodegeneration	HP:0040281 - Very frequent	75
HP:0001260	HP:0001260	Dysarthria	0	PDE8B CL E G H	8622	8794	OMIM:609161	Striatal degeneration, autosomal dominant	.	75
HP:0001260	HP:0001260	Dysarthria	0	PDGFB CL E G H	5155	8800	OMIM:213600	Basal ganglia calcification, idiopathic, 1	.	9
HP:0001260	HP:0001260	Dysarthria	0	PDGFB CL E G H	5155	8800	OMIM:615483	Basal ganglia calcification, idiopathic, 5	.	9
HP:0001260	HP:0001260	Dysarthria	0	PDGFRB CL E G H	5159	8804	OMIM:213600	Basal ganglia calcification, idiopathic, 1	.	28
HP:0001260	HP:0001260	Dysarthria	0	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	88
HP:0001260	HP:0001260	Dysarthria	0	PDYN CL E G H	5173	8820	OMIM:610245	Spinocerebellar ataxia 23	.	52
HP:0001260	HP:0001260	Dysarthria	0	PDYN CL E G H	5173	8820	ORPHA:101108	Spinocerebellar ataxia type 23	HP:0040282 - Frequent	52
HP:0001260	HP:0001260	Dysarthria	0	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	6
HP:0001260	HP:0001260	Dysarthria	0	PEX10 CL E G H	5192	8851	ORPHA:247815	Autosomal recessive ataxia due to PEX10 deficiency	HP:0040282 - Frequent	75
HP:0001260	HP:0001260	Dysarthria	0	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B	.	75
HP:0001260	HP:0001260	Dysarthria	0	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B	.	59
HP:0001260	HP:0001260	Dysarthria	0	PEX2 CL E G H	5828	9717	OMIM:614867	Peroxisome biogenesis disorder 5B	.	82
HP:0001260	HP:0001260	Dysarthria	0	PEX6 CL E G H	5190	8859	ORPHA:95433	Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome		98
HP:0001260	HP:0001260	Dysarthria	0	PFN1 CL E G H	5216	8881	OMIM:614808	AMYOTROPHIC LATERAL SCLEROSIS 18; ALS18		6
HP:0001260	HP:0001260	Dysarthria	0	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23		15
HP:0001260	HP:0001260	Dysarthria	0	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040283 - Occasional	15
HP:0001260	HP:0001260	Dysarthria	0	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional	11
HP:0001260	HP:0001260	Dysarthria	0	PIEZO2 CL E G H	63895	26270	OMIM:617146	Arthrogryposis, distal, with impaired proprioception and touch		77
HP:0001260	HP:0001260	Dysarthria	0	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	162
HP:0001260	HP:0001260	Dysarthria	0	PIK3R5 CL E G H	23533	30035	OMIM:615217	Ataxia-Oculomotor apraxia 3	.	11
HP:0001260	HP:0001260	Dysarthria	0	PLA2G6 CL E G H	8398	9039	ORPHA:199351	Adult-onset dystonia-parkinsonism	HP:0040282 - Frequent	133
HP:0001260	HP:0001260	Dysarthria	0	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy	HP:0040283 - Occasional	133
HP:0001260	HP:0001260	Dysarthria	0	PLA2G6 CL E G H	8398	9039	OMIM:610217	Neurodegeneration with brain iron accumulation 2B	.	133
HP:0001260	HP:0001260	Dysarthria	0	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive	.	133
HP:0001260	HP:0001260	Dysarthria	0	PLD3 CL E G H	23646	17158	OMIM:617770	Spinocerebellar ataxia 46	.	2
HP:0001260	HP:0001260	Dysarthria	0	PLEKHG4 CL E G H	25894	24501	ORPHA:98765	Spinocerebellar ataxia type 4	HP:0040282 - Frequent	4
HP:0001260	HP:0001260	Dysarthria	0	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease		60
HP:0001260	HP:0001260	Dysarthria	0	PLP1 CL E G H	5354	9086	ORPHA:280210	Pelizaeus-Merzbacher disease, connatal form	HP:0040282 - Frequent	60
HP:0001260	HP:0001260	Dysarthria	0	PLP1 CL E G H	5354	9086	OMIM:312920	Spastic paraplegia 2, X-linked	.	60
HP:0001260	HP:0001260	Dysarthria	0	PLP1 CL E G H	5354	9086	ORPHA:99015	Spastic paraplegia type 2	HP:0040283 - Occasional	60
HP:0001260	HP:0001260	Dysarthria	0	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia		150
HP:0001260	HP:0001260	Dysarthria	0	PMPCA CL E G H	23203	18667	ORPHA:1170	Autosomal recessive cerebelloparenchymal disorder type 3	HP:0040281 - Very frequent	7
HP:0001260	HP:0001260	Dysarthria	0	PMPCA CL E G H	23203	18667	OMIM:213200	Spinocerebellar ataxia, autosomal recessive 2	.	7
HP:0001260	HP:0001260	Dysarthria	0	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	56
HP:0001260	HP:0001260	Dysarthria	0	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	1121
HP:0001260	HP:0001260	Dysarthria	0	PNKD CL E G H	25953	9153	OMIM:118800	Paroxysmal nonkinesigenic dyskinesia 1	.	66
HP:0001260	HP:0001260	Dysarthria	0	PNKP CL E G H	11284	9154	ORPHA:459033	Ataxia-oculomotor apraxia type 4	HP:0040283 - Occasional	244
HP:0001260	HP:0001260	Dysarthria	0	PNPLA8 CL E G H	50640	28900	OMIM:251950	Mitochondrial myopathy with lactic acidosis	.	3
HP:0001260	HP:0001260	Dysarthria	0	PNPT1 CL E G H	87178	23166	OMIM:608703	Spinocerebellar ataxia 25	.	60
HP:0001260	HP:0001260	Dysarthria	0	PNPT1 CL E G H	87178	23166	ORPHA:101111	Spinocerebellar ataxia type 25		60
HP:0001260	HP:0001260	Dysarthria	0	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	464
HP:0001260	HP:0001260	Dysarthria	0	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1	.	464
HP:0001260	HP:0001260	Dysarthria	0	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive	.	464
HP:0001260	HP:0001260	Dysarthria	0	POLG CL E G H	5428	9179	ORPHA:94125	Recessive mitochondrial ataxia syndrome	HP:0040283 - Occasional	464
HP:0001260	HP:0001260	Dysarthria	0	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		464
HP:0001260	HP:0001260	Dysarthria	0	POLG CL E G H	5428	9179	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	HP:0040282 - Frequent	464
HP:0001260	HP:0001260	Dysarthria	0	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	45
HP:0001260	HP:0001260	Dysarthria	0	POLR3A CL E G H	11128	30074	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism	.	138
HP:0001260	HP:0001260	Dysarthria	0	POLR3A CL E G H	11128	30074	ORPHA:447896	Tremor-ataxia-central hypomyelination syndrome		138
HP:0001260	HP:0001260	Dysarthria	0	POLR3B CL E G H	55703	30348	OMIM:619742	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I		67
HP:0001260	HP:0001260	Dysarthria	0	POLR3B CL E G H	55703	30348	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism	.	67
HP:0001260	HP:0001260	Dysarthria	0	POLR3B CL E G H	55703	30348	OMIM:614381	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism	.	67
HP:0001260	HP:0001260	Dysarthria	0	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0001260	HP:0001260	Dysarthria	0	POU4F1 CL E G H	5457	9218	OMIM:619352	ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET; ATITHS
HP:0001260	HP:0001260	Dysarthria	0	POU4F1 CL E G H	5457	9218	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability	HP:0040282 - Frequent
HP:0001260	HP:0001260	Dysarthria	0	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2		2
HP:0001260	HP:0001260	Dysarthria	0	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0001260	HP:0001260	Dysarthria	0	PPP2R2B CL E G H	5521	9305	OMIM:604326	Spinocerebellar ataxia 12	.	5
HP:0001260	HP:0001260	Dysarthria	0	PRDM8 CL E G H	56978	13993	ORPHA:324290	Early-onset Lafora body disease	HP:0040282 - Frequent	1
HP:0001260	HP:0001260	Dysarthria	0	PRDM8 CL E G H	56978	13993	OMIM:616640	Epilepsy, progressive myoclonic, 10		1
HP:0001260	HP:0001260	Dysarthria	0	PRDX3 CL E G H	10935	9354	OMIM:619862
HP:0001260	HP:0001260	Dysarthria	0	PRICKLE1 CL E G H	144165	17019	OMIM:612437	Epilepsy, progressive myoclonic 1B	.	133
HP:0001260	HP:0001260	Dysarthria	0	PRICKLE1 CL E G H	144165	17019	ORPHA:308	Progressive myoclonic epilepsy type 1	HP:0040282 - Frequent	133
HP:0001260	HP:0001260	Dysarthria	0	PRKCG CL E G H	5582	9402	OMIM:605361	Spinocerebellar ataxia 14	.	83
HP:0001260	HP:0001260	Dysarthria	0	PRKCG CL E G H	5582	9402	ORPHA:98763	Spinocerebellar ataxia type 14	HP:0040283 - Occasional	83
HP:0001260	HP:0001260	Dysarthria	0	PRKRA CL E G H	8575	9438	OMIM:612067	Dystonia 16	.	37
HP:0001260	HP:0001260	Dysarthria	0	PRKRA CL E G H	8575	9438	ORPHA:210571	Dystonia 16	HP:0040282 - Frequent	37
HP:0001260	HP:0001260	Dysarthria	0	PRNP CL E G H	5621	9449	OMIM:600072	Fatal familial insomnia	.	69
HP:0001260	HP:0001260	Dysarthria	0	PRNP CL E G H	5621	9449	OMIM:137440	Gerstmann-Straussler disease	.	69
HP:0001260	HP:0001260	Dysarthria	0	PRNP CL E G H	5621	9449	ORPHA:356	Gerstmann-Straussler-Scheinker syndrome	HP:0040282 - Frequent	69
HP:0001260	HP:0001260	Dysarthria	0	PRNP CL E G H	5621	9449	OMIM:603218	Huntington disease-like 1	.	69
HP:0001260	HP:0001260	Dysarthria	0	PRNP CL E G H	5621	9449	ORPHA:157941	Huntington disease-like 1	HP:0040282 - Frequent	69
HP:0001260	HP:0001260	Dysarthria	0	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease		69
HP:0001260	HP:0001260	Dysarthria	0	PROK2 CL E G H	60675	18455	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	9
HP:0001260	HP:0001260	Dysarthria	0	PROKR2 CL E G H	128674	15836	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	34
HP:0001260	HP:0001260	Dysarthria	0	PRPH CL E G H	5630	9461	OMIM:105400	Amyotrophic lateral sclerosis 1	.	25
HP:0001260	HP:0001260	Dysarthria	0	PRPS1 CL E G H	5631	9462	ORPHA:99014	X-linked Charcot-Marie-Tooth disease type 5	HP:0040283 - Occasional	49
HP:0001260	HP:0001260	Dysarthria	0	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent	94
HP:0001260	HP:0001260	Dysarthria	0	PSAP CL E G H	5660	9498	OMIM:249900	Metachromatic leukodystrophy due to saposin B deficiency	.	81
HP:0001260	HP:0001260	Dysarthria	0	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040282 - Frequent	81
HP:0001260	HP:0001260	Dysarthria	0	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040282 - Frequent	81
HP:0001260	HP:0001260	Dysarthria	0	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form	HP:0040282 - Frequent	81
HP:0001260	HP:0001260	Dysarthria	0	PSEN1 CL E G H	5663	9508	OMIM:607822	Alzheimer disease 3	.	241
HP:0001260	HP:0001260	Dysarthria	0	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	291
HP:0001260	HP:0001260	Dysarthria	0	PUM1 CL E G H	9698	14957	OMIM:617931	Spinocerebellar ataxia 47	.	1
HP:0001260	HP:0001260	Dysarthria	0	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	HP:0040283 - Occasional	1
HP:0001260	HP:0001260	Dysarthria	0	RAB39B CL E G H	116442	16499	OMIM:311510	Waisman syndrome	.	34
HP:0001260	HP:0001260	Dysarthria	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:401830	Autosomal recessive spastic paraplegia type 69		135
HP:0001260	HP:0001260	Dysarthria	0	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	212
HP:0001260	HP:0001260	Dysarthria	0	RAI1 CL E G H	10743	9834	ORPHA:1713	17p11.2 microduplication syndrome	HP:0040281 - Very frequent	150
HP:0001260	HP:0001260	Dysarthria	0	RANBP2 CL E G H	5903	9848	ORPHA:88619	Familial acute necrotizing encephalopathy	HP:0040282 - Frequent	57
HP:0001260	HP:0001260	Dysarthria	0	RARS1 CL E G H	5917	9870	OMIM:616140	Leukodystrophy, hypomyelinating, 9	.
HP:0001260	HP:0001260	Dysarthria	0	RARS1 CL E G H	5917	9870	ORPHA:438114	RARS-related autosomal recessive hypomyelinating leukodystrophy	HP:0040282 - Frequent
HP:0001260	HP:0001260	Dysarthria	0	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	3
HP:0001260	HP:0001260	Dysarthria	0	REEP1 CL E G H	65055	25786	ORPHA:101011	Autosomal dominant spastic paraplegia type 31	HP:0040283 - Occasional	87
HP:0001260	HP:0001260	Dysarthria	0	REEP1 CL E G H	65055	25786	OMIM:610250	Spastic paraplegia 31, autosomal dominant	.	87
HP:0001260	HP:0001260	Dysarthria	0	REPS1 CL E G H	85021	15578	OMIM:617916	Neurodegeneration with brain iron accumulation 7	.
HP:0001260	HP:0001260	Dysarthria	0	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0001260	HP:0001260	Dysarthria	0	RFC1 CL E G H	5981	9969	ORPHA:504476	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	HP:0040282 - Frequent
HP:0001260	HP:0001260	Dysarthria	0	RFC1 CL E G H	5981	9969	OMIM:614575	Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome	.
HP:0001260	HP:0001260	Dysarthria	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001260	HP:0001260	Dysarthria	0	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040284 - Very rare	38
HP:0001260	HP:0001260	Dysarthria	0	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040284 - Very rare	26
HP:0001260	HP:0001260	Dysarthria	0	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040284 - Very rare	34
HP:0001260	HP:0001260	Dysarthria	0	RILPL1 CL E G H	353116	26814	OMIM:619790	OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4
HP:0001260	HP:0001260	Dysarthria	0	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	39
HP:0001260	HP:0001260	Dysarthria	0	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	HP:0040282 - Frequent	3
HP:0001260	HP:0001260	Dysarthria	0	RNASEH1 CL E G H	246243	18466	OMIM:616479	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2	.	3
HP:0001260	HP:0001260	Dysarthria	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0001260	HP:0001260	Dysarthria	0	RNF170 CL E G H	81790	25358	OMIM:619686	SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG85		3
HP:0001260	HP:0001260	Dysarthria	0	RNF216 CL E G H	54476	21698	OMIM:212840	Cerebellar ataxia and hypogonadotropic hypogonadism	.	10
HP:0001260	HP:0001260	Dysarthria	0	RNF220 CL E G H	55182	25552	OMIM:619688	LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY; HLD23		1
HP:0001260	HP:0001260	Dysarthria	0	RNU12 CL E G H	267010	19380	ORPHA:512260	Congenital cerebellar ataxia due to RNU12 mutation	HP:0040282 - Frequent
HP:0001260	HP:0001260	Dysarthria	0	RPIA CL E G H	22934	10297	OMIM:608611	Ribose 5-phosphate isomerase deficiency	.	18
HP:0001260	HP:0001260	Dysarthria	0	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional	1
HP:0001260	HP:0001260	Dysarthria	0	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0001260	HP:0001260	Dysarthria	0	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	1
HP:0001260	HP:0001260	Dysarthria	0	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	HP:0040282 - Frequent	125
HP:0001260	HP:0001260	Dysarthria	0	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	125
HP:0001260	HP:0001260	Dysarthria	0	RRM2B CL E G H	50484	17296	OMIM:613077	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5	.	125
HP:0001260	HP:0001260	Dysarthria	0	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040283 - Occasional	113
HP:0001260	HP:0001260	Dysarthria	0	RTTN CL E G H	25914	18654	OMIM:614833	Microcephaly, short stature, and polymicrogyria with or without seizures		113
HP:0001260	HP:0001260	Dysarthria	0	RUBCN CL E G H	9711	28991	ORPHA:404499	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency	HP:0040281 - Very frequent	9
HP:0001260	HP:0001260	Dysarthria	0	RUBCN CL E G H	9711	28991	OMIM:615705	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15		9
HP:0001260	HP:0001260	Dysarthria	0	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional	1200
HP:0001260	HP:0001260	Dysarthria	0	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay	HP:0040282 - Frequent	309
HP:0001260	HP:0001260	Dysarthria	0	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type		309
HP:0001260	HP:0001260	Dysarthria	0	SAMD9L CL E G H	219285	1349	OMIM:159550	Ataxia-Pancytopenia syndrome	.	4
HP:0001260	HP:0001260	Dysarthria	0	SAMD9L CL E G H	219285	1349	OMIM:619806	SPINOCEREBELLAR ATAXIA 49; SCA49		4
HP:0001260	HP:0001260	Dysarthria	0	SATB1 CL E G H	6304	10541	OMIM:619228	DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES; DEFDA
HP:0001260	HP:0001260	Dysarthria	0	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0001260	HP:0001260	Dysarthria	0	SCARB2 CL E G H	950	1665	OMIM:254900	Epilepsy, progressive myoclonic, 4, with or without renal failure	.	77
HP:0001260	HP:0001260	Dysarthria	0	SCARB2 CL E G H	950	1665	ORPHA:308	Progressive myoclonic epilepsy type 1	HP:0040282 - Frequent	77
HP:0001260	HP:0001260	Dysarthria	0	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent	1053
HP:0001260	HP:0001260	Dysarthria	0	SCN5A CL E G H	6331	10593	ORPHA:1344	Atrial standstill	HP:0040283 - Occasional	1134
HP:0001260	HP:0001260	Dysarthria	0	SCN8A CL E G H	6334	10596	OMIM:614306	Cognitive impairment with or without cerebellar ataxia	HP:0040283 - Occasional	357
HP:0001260	HP:0001260	Dysarthria	0	SCO2 CL E G H	9997	10604	ORPHA:521411	Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect	HP:0040282 - Frequent	40
HP:0001260	HP:0001260	Dysarthria	0	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	304
HP:0001260	HP:0001260	Dysarthria	0	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0001260	HP:0001260	Dysarthria	0	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
HP:0001260	HP:0001260	Dysarthria	0	SELENOI CL E G H	85465	29361	OMIM:618768	SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0001260	HP:0001260	Dysarthria	0	SEMA3A CL E G H	10371	10723	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	14
HP:0001260	HP:0001260	Dysarthria	0	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional	48
HP:0001260	HP:0001260	Dysarthria	0	SERPINI1 CL E G H	5274	8943	OMIM:604218	Encephalopathy, familial, with neuroserpin inclusion bodies	.	28
HP:0001260	HP:0001260	Dysarthria	0	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1		162
HP:0001260	HP:0001260	Dysarthria	0	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C	HP:0040283 - Occasional	493
HP:0001260	HP:0001260	Dysarthria	0	SIL1 CL E G H	64374	24624	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040281 - Very frequent	67
HP:0001260	HP:0001260	Dysarthria	0	SIL1 CL E G H	64374	24624	OMIM:248800	Marinesco-Sjogren syndrome	.	67
HP:0001260	HP:0001260	Dysarthria	0	SLC13A3 CL E G H	64849	14430	OMIM:618384	Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate	.	2
HP:0001260	HP:0001260	Dysarthria	0	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome	.	57
HP:0001260	HP:0001260	Dysarthria	0	SLC17A5 CL E G H	26503	10933	OMIM:604369	Salla disease	.	78
HP:0001260	HP:0001260	Dysarthria	0	SLC18A2 CL E G H	6571	10935	ORPHA:352649	Brain dopamine-serotonin vesicular transport disease	HP:0040281 - Very frequent	2
HP:0001260	HP:0001260	Dysarthria	0	SLC18A2 CL E G H	6571	10935	OMIM:618049	Parkinsonism-Dystonia, infantile, 2	.	2
HP:0001260	HP:0001260	Dysarthria	0	SLC19A3 CL E G H	80704	16266	ORPHA:263410	Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome	HP:0040282 - Frequent	110
HP:0001260	HP:0001260	Dysarthria	0	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	110
HP:0001260	HP:0001260	Dysarthria	0	SLC19A3 CL E G H	80704	16266	OMIM:607483	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)		110
HP:0001260	HP:0001260	Dysarthria	0	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional	63
HP:0001260	HP:0001260	Dysarthria	0	SLC1A3 CL E G H	6507	10941	OMIM:612656	Episodic ataxia, type 6	.	63
HP:0001260	HP:0001260	Dysarthria	0	SLC20A2 CL E G H	6575	10947	OMIM:213600	Basal ganglia calcification, idiopathic, 1	.	70
HP:0001260	HP:0001260	Dysarthria	0	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	68
HP:0001260	HP:0001260	Dysarthria	0	SLC2A1 CL E G H	6513	11005	ORPHA:71277	Classic glucose transporter type 1 deficiency syndrome	HP:0040282 - Frequent	255
HP:0001260	HP:0001260	Dysarthria	0	SLC2A1 CL E G H	6513	11005	OMIM:601042	Dystonia 9	.	255
HP:0001260	HP:0001260	Dysarthria	0	SLC2A1 CL E G H	6513	11005	OMIM:606777	Glut1 deficiency syndrome 1	.	255
HP:0001260	HP:0001260	Dysarthria	0	SLC2A1 CL E G H	6513	11005	ORPHA:53583	Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity	HP:0040282 - Frequent	255
HP:0001260	HP:0001260	Dysarthria	0	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome	HP:0040282 - Frequent	42
HP:0001260	HP:0001260	Dysarthria	0	SLC30A10 CL E G H	55532	25355	OMIM:613280	Hypermanganesemia with dystonia 1		42
HP:0001260	HP:0001260	Dysarthria	0	SLC35A1 CL E G H	10559	11021	OMIM:603585	Congenital disorder of glycosylation, type IIf	.	24
HP:0001260	HP:0001260	Dysarthria	0	SLC44A1 CL E G H	23446	18798	OMIM:618868	NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC		1
HP:0001260	HP:0001260	Dysarthria	0	SLC7A6OS CL E G H	84138	25807	OMIM:619191	EPILEPSY, PROGRESSIVE MYOCLONIC, 12; EPM12
HP:0001260	HP:0001260	Dysarthria	0	SLC9A1 CL E G H	6548	11071	OMIM:616291	Lichtenstein-Knorr syndrome	.	2
HP:0001260	HP:0001260	Dysarthria	0	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040283 - Occasional	74
HP:0001260	HP:0001260	Dysarthria	0	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type	.	19
HP:0001260	HP:0001260	Dysarthria	0	SNAP25 CL E G H	6616	11132	OMIM:616330	Myasthenic syndrome, congenital, 18	.	2
HP:0001260	HP:0001260	Dysarthria	0	SNCA CL E G H	6622	11138	OMIM:168601	Parkinson disease 1, autosomal dominant	.	65
HP:0001260	HP:0001260	Dysarthria	0	SNCAIP CL E G H	9627	11139	OMIM:168600	Parkinson disease, late-onset	.	35
HP:0001260	HP:0001260	Dysarthria	0	SNORD118 CL E G H	727676	32952	ORPHA:542310	Leukoencephalopathy with calcifications and cysts		6
HP:0001260	HP:0001260	Dysarthria	0	SNORD118 CL E G H	727676	32952	OMIM:614561	Leukoencephalopathy, brain calcifications, and cysts	.	6
HP:0001260	HP:0001260	Dysarthria	0	SOD1 CL E G H	6647	11179	OMIM:105400	Amyotrophic lateral sclerosis 1	.	53
HP:0001260	HP:0001260	Dysarthria	0	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	315
HP:0001260	HP:0001260	Dysarthria	0	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	30
HP:0001260	HP:0001260	Dysarthria	0	SOX10 CL E G H	6663	11190	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	61
HP:0001260	HP:0001260	Dysarthria	0	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20	HP:0040282 - Frequent	66
HP:0001260	HP:0001260	Dysarthria	0	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive	.	66
HP:0001260	HP:0001260	Dysarthria	0	SPAST CL E G H	6683	11233	ORPHA:100985	Autosomal dominant spastic paraplegia type 4	HP:0040283 - Occasional	208
HP:0001260	HP:0001260	Dysarthria	0	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional	20
HP:0001260	HP:0001260	Dysarthria	0	SPG11 CL E G H	80208	11226	OMIM:602099	Amyotrophic lateral sclerosis 5, juvenile	.	287
HP:0001260	HP:0001260	Dysarthria	0	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11	HP:0040282 - Frequent	287
HP:0001260	HP:0001260	Dysarthria	0	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive	.	287
HP:0001260	HP:0001260	Dysarthria	0	SPG21 CL E G H	51324	20373	OMIM:248900	Mast syndrome	HP:0040283 - Occasional	28
HP:0001260	HP:0001260	Dysarthria	0	SPG7 CL E G H	6687	11237	ORPHA:35689	Primary lateral sclerosis		171
HP:0001260	HP:0001260	Dysarthria	0	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive	.	171
HP:0001260	HP:0001260	Dysarthria	0	SPG7 CL E G H	6687	11237	ORPHA:99013	Spastic paraplegia type 7	HP:0040283 - Occasional	171
HP:0001260	HP:0001260	Dysarthria	0	SPR CL E G H	6697	11257	OMIM:612716	Dystonia, dopa-responsive, due to sepiapterin reductase deficiency	.	28
HP:0001260	HP:0001260	Dysarthria	0	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0001260	HP:0001260	Dysarthria	0	SPRY4 CL E G H	81848	15533	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	5
HP:0001260	HP:0001260	Dysarthria	0	SPTBN2 CL E G H	6712	11276	ORPHA:352403	Spectrin-associated autosomal recessive cerebellar ataxia	HP:0040282 - Frequent	126
HP:0001260	HP:0001260	Dysarthria	0	SPTBN2 CL E G H	6712	11276	OMIM:600224	Spinocerebellar ataxia 5	.	126
HP:0001260	HP:0001260	Dysarthria	0	SQSTM1 CL E G H	8878	11280	OMIM:616437	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3	.	62
HP:0001260	HP:0001260	Dysarthria	0	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	62
HP:0001260	HP:0001260	Dysarthria	0	SQSTM1 CL E G H	8878	11280	OMIM:617145	Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset	.	62
HP:0001260	HP:0001260	Dysarthria	0	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040283 - Occasional	138
HP:0001260	HP:0001260	Dysarthria	0	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional	50
HP:0001260	HP:0001260	Dysarthria	0	SRPX2 CL E G H	27286	30668	ORPHA:163721	Rolandic epilepsy-speech dyspraxia syndrome	HP:0040283 - Occasional	50
HP:0001260	HP:0001260	Dysarthria	0	STAC3 CL E G H	246329	28423	ORPHA:168572	Native American myopathy	HP:0040283 - Occasional	14
HP:0001260	HP:0001260	Dysarthria	0	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency	HP:0040281 - Very frequent	14
HP:0001260	HP:0001260	Dysarthria	0	STUB1 CL E G H	10273	11427	OMIM:618093	SPINOCEREBELLAR ATAXIA 48; SCA48		14
HP:0001260	HP:0001260	Dysarthria	0	STUB1 CL E G H	10273	11427	OMIM:615768	Spinocerebellar ataxia, autosomal recessive 16		14
HP:0001260	HP:0001260	Dysarthria	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001260	HP:0001260	Dysarthria	0	SUFU CL E G H	51684	16466	OMIM:617757	Joubert syndrome 32	.	124
HP:0001260	HP:0001260	Dysarthria	0	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	73
HP:0001260	HP:0001260	Dysarthria	0	SYNE1 CL E G H	23345	17089	ORPHA:88644	Autosomal recessive ataxia, Beauce type	HP:0040283 - Occasional	1129
HP:0001260	HP:0001260	Dysarthria	0	SYNE1 CL E G H	23345	17089	OMIM:610743	Spinocerebellar ataxia, autosomal recessive 8	.	1129
HP:0001260	HP:0001260	Dysarthria	0	SYNJ1 CL E G H	8867	11503	OMIM:615530	Parkinson disease 20, early-onset	.	9
HP:0001260	HP:0001260	Dysarthria	0	SYT14 CL E G H	255928	23143	ORPHA:284271	Autosomal recessive cerebellar ataxia-psychomotor delay syndrome	HP:0040281 - Very frequent	4
HP:0001260	HP:0001260	Dysarthria	0	SYT14 CL E G H	255928	23143	OMIM:614229	Spinocerebellar ataxia, autosomal recessive 11	.	4
HP:0001260	HP:0001260	Dysarthria	0	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B		4
HP:0001260	HP:0001260	Dysarthria	0	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	23
HP:0001260	HP:0001260	Dysarthria	0	TACO1 CL E G H	51204	24316	OMIM:619052	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 8; MC4DN8		23
HP:0001260	HP:0001260	Dysarthria	0	TACR3 CL E G H	6870	11528	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	34
HP:0001260	HP:0001260	Dysarthria	0	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration		12
HP:0001260	HP:0001260	Dysarthria	0	TARDBP CL E G H	23435	11571	OMIM:612069	Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia	.	65
HP:0001260	HP:0001260	Dysarthria	0	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	65
HP:0001260	HP:0001260	Dysarthria	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0001260	HP:0001260	Dysarthria	0	TBC1D23 CL E G H	55773	25622	OMIM:617695	Pontocerebellar hypoplasia, type 11	.
HP:0001260	HP:0001260	Dysarthria	0	TBC1D24 CL E G H	57465	29203	OMIM:608105	Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp	.	271
HP:0001260	HP:0001260	Dysarthria	0	TBC1D24 CL E G H	57465	29203	ORPHA:352582	Familial infantile myoclonic epilepsy	HP:0040282 - Frequent	271
HP:0001260	HP:0001260	Dysarthria	0	TBC1D24 CL E G H	57465	29203	OMIM:605021	Myoclonic epilepsy, familial infantile	.	271
HP:0001260	HP:0001260	Dysarthria