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:0001251	HP:0001251	Ataxia	0	AAAS CL E G H	8086	13666	OMIM:231550	Achalasia-Addisonianism-Alacrima syndrome	.	57
HP:0001251	HP:0001251	Ataxia	0	AAAS CL E G H	8086	13666	ORPHA:869	Triple A syndrome	HP:0040283 - Occasional	57
HP:0001251	HP:0001251	Ataxia	0	AARS1 CL E G H	16	20	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0001251	HP:0001251	Ataxia	0	AARS2 CL E G H	57505	21022	OMIM:615889	Leukoencephalopathy, progressive, with ovarian failure	.	143
HP:0001251	HP:0001251	Ataxia	0	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia		15
HP:0001251	HP:0001251	Ataxia	0	AASS CL E G H	10157	17366	ORPHA:3124	Saccharopinuria		15
HP:0001251	HP:0001251	Ataxia	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:0001251	HP:0001251	Ataxia	0	ABCA5 CL E G H	23461	35	ORPHA:2026	Gingival fibromatosis-hypertrichosis syndrome	HP:0040283 - Occasional	1
HP:0001251	HP:0001251	Ataxia	0	ABCA7 CL E G H	10347	37	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional	3
HP:0001251	HP:0001251	Ataxia	0	ABCB7 CL E G H	22	48	OMIM:301310	Anemia, sideroblastic, and spinocerebellar ataxia		35
HP:0001251	HP:0001251	Ataxia	0	ABCB7 CL E G H	22	48	ORPHA:2802	X-linked sideroblastic anemia and spinocerebellar ataxia	HP:0040281 - Very frequent	35
HP:0001251	HP:0001251	Ataxia	0	ABCC8 CL E G H	6833	59	OMIM:240800	Hypoglycemia of infancy, leucine-sensitive	.	245
HP:0001251	HP:0001251	Ataxia	0	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040283 - Occasional	245
HP:0001251	HP:0001251	Ataxia	0	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy		135
HP:0001251	HP:0001251	Ataxia	0	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy	HP:0040283 - Occasional	135
HP:0001251	HP:0001251	Ataxia	0	ABHD12 CL E G H	26090	15868	OMIM:612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	.	50
HP:0001251	HP:0001251	Ataxia	0	ABHD5 CL E G H	51099	21396	OMIM:275630	Chanarin-Dorfman syndrome	.	90
HP:0001251	HP:0001251	Ataxia	0	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis	HP:0040282 - Frequent	90
HP:0001251	HP:0001251	Ataxia	0	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional	197
HP:0001251	HP:0001251	Ataxia	0	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency	HP:0040283 - Occasional	91
HP:0001251	HP:0001251	Ataxia	0	ACBD5 CL E G H	91452	23338	OMIM:618863	RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD		1
HP:0001251	HP:0001251	Ataxia	0	ACD CL E G H	65057	25070	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040283 - Occasional	11
HP:0001251	HP:0001251	Ataxia	0	ACO2 CL E G H	50	118	OMIM:614559	INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD		60
HP:0001251	HP:0001251	Ataxia	0	ACOX2 CL E G H	8309	120	OMIM:617308	Bile acid synthesis defect, congenital, 6	.	2
HP:0001251	HP:0001251	Ataxia	0	ACTL6B CL E G H	51412	160	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	2
HP:0001251	HP:0001251	Ataxia	0	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome		22
HP:0001251	HP:0001251	Ataxia	0	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent	116
HP:0001251	HP:0001251	Ataxia	0	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria		88
HP:0001251	HP:0001251	Ataxia	0	ADGRG1 CL E G H	9289	4512	OMIM:606854	Polymicrogyria, bilateral frontoparietal		88
HP:0001251	HP:0001251	Ataxia	0	ADGRV1 CL E G H	84059	17416	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040283 - Occasional	530
HP:0001251	HP:0001251	Ataxia	0	ADGRV1 CL E G H	84059	17416	ORPHA:231178	Usher syndrome type 2	HP:0040283 - Occasional	530
HP:0001251	HP:0001251	Ataxia	0	ADPRS CL E G H	54936	21304	OMIM:618170	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	.
HP:0001251	HP:0001251	Ataxia	0	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency		118
HP:0001251	HP:0001251	Ataxia	0	AFG3L2 CL E G H	10939	315	ORPHA:313772	Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome	HP:0040282 - Frequent	86
HP:0001251	HP:0001251	Ataxia	0	AFG3L2 CL E G H	10939	315	OMIM:614487	Spastic ataxia 5, autosomal recessive	.	86
HP:0001251	HP:0001251	Ataxia	0	AFG3L2 CL E G H	10939	315	OMIM:610246	Spinocerebellar ataxia 28		86
HP:0001251	HP:0001251	Ataxia	0	AFG3L2 CL E G H	10939	315	ORPHA:101109	Spinocerebellar ataxia type 28		86
HP:0001251	HP:0001251	Ataxia	0	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	127
HP:0001251	HP:0001251	Ataxia	0	AGTPBP1 CL E G H	23287	17258	OMIM:618276	Neurodegeneration, childhood-onset, with cerebellar atrophy	HP:0040284 - Very rare	1
HP:0001251	HP:0001251	Ataxia	0	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1		1
HP:0001251	HP:0001251	Ataxia	0	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome	HP:0040282 - Frequent	36
HP:0001251	HP:0001251	Ataxia	0	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	175
HP:0001251	HP:0001251	Ataxia	0	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3	.	175
HP:0001251	HP:0001251	Ataxia	0	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040281 - Very frequent	175
HP:0001251	HP:0001251	Ataxia	0	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration		60
HP:0001251	HP:0001251	Ataxia	0	AIFM1 CL E G H	9131	8768	ORPHA:101078	X-linked Charcot-Marie-Tooth disease type 4	HP:0040283 - Occasional	60
HP:0001251	HP:0001251	Ataxia	0	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	54
HP:0001251	HP:0001251	Ataxia	0	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040283 - Occasional	54
HP:0001251	HP:0001251	Ataxia	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447757	Autosomal dominant spastic paraplegia type 9B		89
HP:0001251	HP:0001251	Ataxia	0	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant		89
HP:0001251	HP:0001251	Ataxia	0	ALDH5A1 CL E G H	7915	408	ORPHA:22	Succinic semialdehyde dehydrogenase deficiency	HP:0040281 - Very frequent	108
HP:0001251	HP:0001251	Ataxia	0	ALDH5A1 CL E G H	7915	408	OMIM:271980	Succinic semialdehyde dehydrogenase deficiency		108
HP:0001251	HP:0001251	Ataxia	0	ALG11 CL E G H	440138	32456	ORPHA:280071	ALG11-CDG	HP:0040283 - Occasional	41
HP:0001251	HP:0001251	Ataxia	0	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG	HP:0040282 - Frequent	66
HP:0001251	HP:0001251	Ataxia	0	ALG6 CL E G H	29929	23157	OMIM:603147	Congenital disorder of glycosylation, type Ic	.	66
HP:0001251	HP:0001251	Ataxia	0	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG	HP:0040283 - Occasional	46
HP:0001251	HP:0001251	Ataxia	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040284 - Very rare	404
HP:0001251	HP:0001251	Ataxia	0	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile		114
HP:0001251	HP:0001251	Ataxia	0	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional	114
HP:0001251	HP:0001251	Ataxia	0	AMACR CL E G H	23600	451	OMIM:614307	Alpha-methylacyl-CoA racemase deficiency	HP:0040283 - Occasional	44
HP:0001251	HP:0001251	Ataxia	0	AMACR CL E G H	23600	451	ORPHA:79095	Congenital bile acid synthesis defect type 4		44
HP:0001251	HP:0001251	Ataxia	0	ANK1 CL E G H	286	492	ORPHA:822	Hereditary spherocytosis	HP:0040283 - Occasional	150
HP:0001251	HP:0001251	Ataxia	0	ANO10 CL E G H	55129	25519	ORPHA:284289	Adult-onset autosomal recessive cerebellar ataxia		64
HP:0001251	HP:0001251	Ataxia	0	ANO10 CL E G H	55129	25519	OMIM:613728	Spinocerebellar ataxia, autosomal recessive 10		64
HP:0001251	HP:0001251	Ataxia	0	ANOS1 CL E G H	3730	6211	OMIM:308700	Hypogonadotropic hypogonadism 1 with or without anosmia	.	65
HP:0001251	HP:0001251	Ataxia	0	ANOS1 CL E G H	3730	6211	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	65
HP:0001251	HP:0001251	Ataxia	0	AP1S2 CL E G H	8905	560	OMIM:304340	Pettigrew syndrome		13
HP:0001251	HP:0001251	Ataxia	0	AP2M1 CL E G H	1173	564	OMIM:618587	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES; MRD60
HP:0001251	HP:0001251	Ataxia	0	AP2M1 CL E G H	1173	564	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040283 - Occasional
HP:0001251	HP:0001251	Ataxia	0	AP3B2 CL E G H	8120	567	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	7
HP:0001251	HP:0001251	Ataxia	0	AP5Z1 CL E G H	9907	22197	ORPHA:306511	Autosomal recessive spastic paraplegia type 48	HP:0040282 - Frequent	165
HP:0001251	HP:0001251	Ataxia	0	AP5Z1 CL E G H	9907	22197	OMIM:613647	Spastic paraplegia 48, autosomal recessive	.	165
HP:0001251	HP:0001251	Ataxia	0	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis	HP:0040284 - Very rare	3179
HP:0001251	HP:0001251	Ataxia	0	APOB CL E G H	338	603	OMIM:615558	Hypobetalipoproteinemia, familial, 1	.	356
HP:0001251	HP:0001251	Ataxia	0	APP CL E G H	351	620	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional	74
HP:0001251	HP:0001251	Ataxia	0	APTX CL E G H	54840	15984	OMIM:208920	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia		61
HP:0001251	HP:0001251	Ataxia	0	APTX CL E G H	54840	15984	ORPHA:1168	Ataxia-oculomotor apraxia type 1	HP:0040281 - Very frequent	61
HP:0001251	HP:0001251	Ataxia	0	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay		3
HP:0001251	HP:0001251	Ataxia	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0001251	HP:0001251	Ataxia	0	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	62
HP:0001251	HP:0001251	Ataxia	0	ARL13B CL E G H	200894	25419	OMIM:612291	JOUBERT SYNDROME 8; JBTS8		62
HP:0001251	HP:0001251	Ataxia	0	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	1
HP:0001251	HP:0001251	Ataxia	0	ARL3 CL E G H	403	694	OMIM:618161	JOUBERT SYNDROME 35; JBTS35		1
HP:0001251	HP:0001251	Ataxia	0	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1	.	29
HP:0001251	HP:0001251	Ataxia	0	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent
HP:0001251	HP:0001251	Ataxia	0	ARSA CL E G H	410	713	OMIM:250100	Metachromatic leukodystrophy	.	253
HP:0001251	HP:0001251	Ataxia	0	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form		253
HP:0001251	HP:0001251	Ataxia	0	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form		253
HP:0001251	HP:0001251	Ataxia	0	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form		253
HP:0001251	HP:0001251	Ataxia	0	ARSG CL E G H	22901	24102	ORPHA:231183	Usher syndrome type 3	HP:0040282 - Frequent
HP:0001251	HP:0001251	Ataxia	0	ARV1 CL E G H	64801	29561	OMIM:617020	Epileptic encephalopathy, early infantile, 38	.	3
HP:0001251	HP:0001251	Ataxia	0	ARV1 CL E G H	64801	29561	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	3
HP:0001251	HP:0001251	Ataxia	0	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy		166
HP:0001251	HP:0001251	Ataxia	0	ASL CL E G H	435	746	ORPHA:23	Argininosuccinic aciduria	HP:0040282 - Frequent	81
HP:0001251	HP:0001251	Ataxia	0	ASL CL E G H	435	746	OMIM:207900	Argininosuccinic aciduria	.	81
HP:0001251	HP:0001251	Ataxia	0	ASS1 CL E G H	445	758	OMIM:215700	Citrullinemia, classic	.	119
HP:0001251	HP:0001251	Ataxia	0	ATAD1 CL E G H	84896	25903	ORPHA:3197	Hereditary hyperekplexia	HP:0040281 - Very frequent
HP:0001251	HP:0001251	Ataxia	0	ATAD3A CL E G H	55210	25567	OMIM:617183	Harel-Yoon syndrome	.	5
HP:0001251	HP:0001251	Ataxia	0	ATAD3A CL E G H	55210	25567	ORPHA:496790	Ocular anomalies-axonal neuropathy-developmental delay syndrome		5
HP:0001251	HP:0001251	Ataxia	0	ATCAY CL E G H	85300	779	OMIM:601238	Cerebellar ataxia, Cayman type		72
HP:0001251	HP:0001251	Ataxia	0	ATCAY CL E G H	85300	779	ORPHA:94122	Cerebellar ataxia, Cayman type		72
HP:0001251	HP:0001251	Ataxia	0	ATG5 CL E G H	9474	589	OMIM:617584	Spinocerebellar ataxia, autosomal recessive 25	.	1
HP:0001251	HP:0001251	Ataxia	0	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31		1
HP:0001251	HP:0001251	Ataxia	0	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA	.	3267
HP:0001251	HP:0001251	Ataxia	0	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia	HP:0040281 - Very frequent	3267
HP:0001251	HP:0001251	Ataxia	0	ATN1 CL E G H	1822	3033	ORPHA:101	Dentatorubral pallidoluysian atrophy	HP:0040282 - Frequent	16
HP:0001251	HP:0001251	Ataxia	0	ATN1 CL E G H	1822	3033	OMIM:125370	Dentatorubral-Pallidoluysian atrophy naito-oyanagi disease haw river syndrome ataxia, chorea, seizures, and dementia		16
HP:0001251	HP:0001251	Ataxia	0	ATP10A CL E G H	57194	13542	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040283 - Occasional	4
HP:0001251	HP:0001251	Ataxia	0	ATP13A2 CL E G H	23400	30213	ORPHA:513436	Autosomal recessive spastic paraplegia type 78		100
HP:0001251	HP:0001251	Ataxia	0	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome	.	100
HP:0001251	HP:0001251	Ataxia	0	ATP13A2 CL E G H	23400	30213	OMIM:617225	SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78		100
HP:0001251	HP:0001251	Ataxia	0	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040282 - Frequent	239
HP:0001251	HP:0001251	Ataxia	0	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine		239
HP:0001251	HP:0001251	Ataxia	0	ATP1A2 CL E G H	477	800	OMIM:602481	Migraine, familial hemiplegic, 2		239
HP:0001251	HP:0001251	Ataxia	0	ATP1A2 CL E G H	477	800	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	239
HP:0001251	HP:0001251	Ataxia	0	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040282 - Frequent	150
HP:0001251	HP:0001251	Ataxia	0	ATP1A3 CL E G H	478	801	OMIM:614820	Alternating hemiplegia of childhood 2	.	150
HP:0001251	HP:0001251	Ataxia	0	ATP1A3 CL E G H	478	801	OMIM:601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss		150
HP:0001251	HP:0001251	Ataxia	0	ATP1A3 CL E G H	478	801	ORPHA:1171	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome	HP:0040281 - Very frequent	150
HP:0001251	HP:0001251	Ataxia	0	ATP1A3 CL E G H	478	801	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	150
HP:0001251	HP:0001251	Ataxia	0	ATP1A3 CL E G H	478	801	ORPHA:71517	Rapid-onset dystonia-parkinsonism		150
HP:0001251	HP:0001251	Ataxia	0	ATP2B3 CL E G H	492	816	OMIM:302500	Spinocerebellar ataxia, X-linked 1	.	19
HP:0001251	HP:0001251	Ataxia	0	ATP2B3 CL E G H	492	816	ORPHA:314978	X-linked non progressive cerebellar ataxia		19
HP:0001251	HP:0001251	Ataxia	0	ATP5MK CL E G H	84833	30889	OMIM:618683	MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6; MC5DN6
HP:0001251	HP:0001251	Ataxia	0	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent
HP:0001251	HP:0001251	Ataxia	0	ATP6 CL E G H	4508	7414	ORPHA:104	Leber hereditary optic neuropathy	HP:0040283 - Occasional
HP:0001251	HP:0001251	Ataxia	0	ATP6 CL E G H	4508	7414	OMIM:535000	Leber optic atrophy	.
HP:0001251	HP:0001251	Ataxia	0	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0001251	HP:0001251	Ataxia	0	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome	HP:0040282 - Frequent
HP:0001251	HP:0001251	Ataxia	0	ATP6 CL E G H	4508	7414	OMIM:551500	Neuropathy, ataxia, and retinitis pigmentosa	.
HP:0001251	HP:0001251	Ataxia	0	ATP6AP2 CL E G H	10159	18305	ORPHA:93952	X-linked intellectual disability, Hedera type		36
HP:0001251	HP:0001251	Ataxia	0	ATP6V0A1 CL E G H	535	865	OMIM:619971			1
HP:0001251	HP:0001251	Ataxia	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome		140
HP:0001251	HP:0001251	Ataxia	0	ATP6V1A CL E G H	523	851	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	3
HP:0001251	HP:0001251	Ataxia	0	ATP8 CL E G H	4509	7415	ORPHA:480	Kearns-Sayre syndrome	HP:0040282 - Frequent
HP:0001251	HP:0001251	Ataxia	0	ATP8A2 CL E G H	51761	13533	OMIM:615268	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome4		24
HP:0001251	HP:0001251	Ataxia	0	ATP8A2 CL E G H	51761	13533	ORPHA:1766	Dysequilibrium syndrome	HP:0040281 - Very frequent	24
HP:0001251	HP:0001251	Ataxia	0	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1		19
HP:0001251	HP:0001251	Ataxia	0	ATXN1 CL E G H	6310	10548	ORPHA:98755	Spinocerebellar ataxia type 1		19
HP:0001251	HP:0001251	Ataxia	0	ATXN10 CL E G H	25814	10549	OMIM:603516	Spinocerebellar ataxia 10		9
HP:0001251	HP:0001251	Ataxia	0	ATXN10 CL E G H	25814	10549	ORPHA:98761	Spinocerebellar ataxia type 10		9
HP:0001251	HP:0001251	Ataxia	0	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2		11
HP:0001251	HP:0001251	Ataxia	0	ATXN2 CL E G H	6311	10555	ORPHA:98756	Spinocerebellar ataxia type 2		11
HP:0001251	HP:0001251	Ataxia	0	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease		14
HP:0001251	HP:0001251	Ataxia	0	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1		14
HP:0001251	HP:0001251	Ataxia	0	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2		14
HP:0001251	HP:0001251	Ataxia	0	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3		14
HP:0001251	HP:0001251	Ataxia	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:0001251	HP:0001251	Ataxia	0	ATXN7 CL E G H	6314	10560	ORPHA:94147	Spinocerebellar ataxia type 7	HP:0040280 - Obligate	8
HP:0001251	HP:0001251	Ataxia	0	ATXN8 CL E G H	724066	32925	OMIM:608768	Spinocerebellar ataxia 8		1
HP:0001251	HP:0001251	Ataxia	0	ATXN8 CL E G H	724066	32925	ORPHA:98760	Spinocerebellar ataxia type 8	HP:0040282 - Frequent	1
HP:0001251	HP:0001251	Ataxia	0	ATXN8OS CL E G H	6315	10561	OMIM:608768	Spinocerebellar ataxia 8		1
HP:0001251	HP:0001251	Ataxia	0	ATXN8OS CL E G H	6315	10561	ORPHA:98760	Spinocerebellar ataxia type 8	HP:0040282 - Frequent	1
HP:0001251	HP:0001251	Ataxia	0	AUH CL E G H	549	890	ORPHA:67046	3-methylglutaconic aciduria type 1		49
HP:0001251	HP:0001251	Ataxia	0	AUH CL E G H	549	890	OMIM:250950	3-methylglutaconic aciduria, type I		49
HP:0001251	HP:0001251	Ataxia	0	B4GALNT1 CL E G H	2583	4117	OMIM:609195	Spastic paraplegia 26, autosomal recessive	.	25
HP:0001251	HP:0001251	Ataxia	0	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	28
HP:0001251	HP:0001251	Ataxia	0	B9D1 CL E G H	27077	24123	OMIM:617120	Joubert syndrome 27	.	28
HP:0001251	HP:0001251	Ataxia	0	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	34
HP:0001251	HP:0001251	Ataxia	0	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040283 - Occasional	184
HP:0001251	HP:0001251	Ataxia	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001251	HP:0001251	Ataxia	0	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1	.	114
HP:0001251	HP:0001251	Ataxia	0	BCKDHA CL E G H	593	986	OMIM:248600	Maple syrup urine disease	.	120
HP:0001251	HP:0001251	Ataxia	0	BCKDHB CL E G H	594	987	OMIM:248600	Maple syrup urine disease	.	162
HP:0001251	HP:0001251	Ataxia	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001251	HP:0001251	Ataxia	0	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1	.	72
HP:0001251	HP:0001251	Ataxia	0	BEAN1 CL E G H	146227	24160	OMIM:117210	Spinocerebellar ataxia 31	.	1
HP:0001251	HP:0001251	Ataxia	0	BEAN1 CL E G H	146227	24160	ORPHA:217012	Spinocerebellar ataxia type 31		1
HP:0001251	HP:0001251	Ataxia	0	BMP15 CL E G H	9210	1068	ORPHA:243	46,XX gonadal dysgenesis	HP:0040284 - Very rare	16
HP:0001251	HP:0001251	Ataxia	0	BNC1 CL E G H	646	1081	ORPHA:243	46,XX gonadal dysgenesis	HP:0040284 - Very rare
HP:0001251	HP:0001251	Ataxia	0	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia	HP:0040283 - Occasional	14
HP:0001251	HP:0001251	Ataxia	0	BRAT1 CL E G H	221927	21701	OMIM:618056	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures		20
HP:0001251	HP:0001251	Ataxia	0	BSCL2 CL E G H	26580	15832	OMIM:615924	Encephalopathy, progressive, with or without lipodystrophy	.	105
HP:0001251	HP:0001251	Ataxia	0	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy	HP:0040282 - Frequent	105
HP:0001251	HP:0001251	Ataxia	0	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency	HP:0040283 - Occasional	223
HP:0001251	HP:0001251	Ataxia	0	BTD CL E G H	686	1122	OMIM:253260	Biotinidase deficiencymultiple carboxylase deficiency, late-onset	.	223
HP:0001251	HP:0001251	Ataxia	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001251	HP:0001251	Ataxia	0	C12ORF4 CL E G H	57102	1184	OMIM:618221	Mental retardation, autosomal recessive 66		2
HP:0001251	HP:0001251	Ataxia	0	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4	.	114
HP:0001251	HP:0001251	Ataxia	0	C4A CL E G H	720	1323	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0001251	HP:0001251	Ataxia	0	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease		56
HP:0001251	HP:0001251	Ataxia	0	C9ORF72 CL E G H	203228	28337	ORPHA:401901	Huntington disease-like syndrome due to C9ORF72 expansions	HP:0040282 - Frequent	56
HP:0001251	HP:0001251	Ataxia	0	CA8 CL E G H	767	1382	OMIM:613227	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome3	.	8
HP:0001251	HP:0001251	Ataxia	0	CA8 CL E G H	767	1382	ORPHA:1766	Dysequilibrium syndrome	HP:0040281 - Very frequent	8
HP:0001251	HP:0001251	Ataxia	0	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040282 - Frequent	449
HP:0001251	HP:0001251	Ataxia	0	CACNA1A CL E G H	773	1388	ORPHA:71518	Benign paroxysmal torticollis of infancy	HP:0040282 - Frequent	449
HP:0001251	HP:0001251	Ataxia	0	CACNA1A CL E G H	773	1388	OMIM:617106	Epileptic encephalopathy, early infantile, 42	.	449
HP:0001251	HP:0001251	Ataxia	0	CACNA1A CL E G H	773	1388	OMIM:108500	Episodic ataxia, type 2		449
HP:0001251	HP:0001251	Ataxia	0	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine		449
HP:0001251	HP:0001251	Ataxia	0	CACNA1A CL E G H	773	1388	ORPHA:97	Familial paroxysmal ataxia	HP:0040281 - Very frequent	449
HP:0001251	HP:0001251	Ataxia	0	CACNA1A CL E G H	773	1388	OMIM:141500	Migraine, familial hemiplegic, 1	.	449
HP:0001251	HP:0001251	Ataxia	0	CACNA1A CL E G H	773	1388	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	449
HP:0001251	HP:0001251	Ataxia	0	CACNA1A CL E G H	773	1388	OMIM:183086	Spinocerebellar ataxia 6		449
HP:0001251	HP:0001251	Ataxia	0	CACNA1A CL E G H	773	1388	ORPHA:98758	Spinocerebellar ataxia type 6		449
HP:0001251	HP:0001251	Ataxia	0	CACNA1B CL E G H	774	1389	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	5
HP:0001251	HP:0001251	Ataxia	0	CACNA1G CL E G H	8913	1394	OMIM:616795	Spinocerebellar ataxia 42		32
HP:0001251	HP:0001251	Ataxia	0	CACNA1G CL E G H	8913	1394	OMIM:618087	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits	.	32
HP:0001251	HP:0001251	Ataxia	0	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42		32
HP:0001251	HP:0001251	Ataxia	0	CACNA2D1 CL E G H	781	1399	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	59
HP:0001251	HP:0001251	Ataxia	0	CACNA2D2 CL E G H	9254	1400	OMIM:618501	Cerebellar atrophy with seizures and variable developmental delay	.	48
HP:0001251	HP:0001251	Ataxia	0	CACNB4 CL E G H	785	1404	OMIM:607682	Epilepsy, idiopathic generalized, susceptibility to, 9		146
HP:0001251	HP:0001251	Ataxia	0	CACNB4 CL E G H	785	1404	ORPHA:211067	Episodic ataxia type 5	HP:0040282 - Frequent	146
HP:0001251	HP:0001251	Ataxia	0	CACNB4 CL E G H	785	1404	OMIM:613855	Episodic ataxia, type 5		146
HP:0001251	HP:0001251	Ataxia	0	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0001251	HP:0001251	Ataxia	0	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation	.	34
HP:0001251	HP:0001251	Ataxia	0	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability	HP:0040282 - Frequent	34
HP:0001251	HP:0001251	Ataxia	0	CAPN1 CL E G H	823	1476	ORPHA:488594	Autosomal recessive spastic paraplegia type 76	HP:0040282 - Frequent	4
HP:0001251	HP:0001251	Ataxia	0	CAPN1 CL E G H	823	1476	OMIM:616907	SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG76		4
HP:0001251	HP:0001251	Ataxia	0	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0001251	HP:0001251	Ataxia	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0001251	HP:0001251	Ataxia	0	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy		118
HP:0001251	HP:0001251	Ataxia	0	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7		11
HP:0001251	HP:0001251	Ataxia	0	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	1
HP:0001251	HP:0001251	Ataxia	0	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040281 - Very frequent	247
HP:0001251	HP:0001251	Ataxia	0	CC2D2A CL E G H	57545	29253	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040281 - Very frequent	247
HP:0001251	HP:0001251	Ataxia	0	CCDC141 CL E G H	285025	26821	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional
HP:0001251	HP:0001251	Ataxia	0	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1	.	4
HP:0001251	HP:0001251	Ataxia	0	CCDC88C CL E G H	440193	19967	OMIM:616053	Spinocerebellar ataxia 40		54
HP:0001251	HP:0001251	Ataxia	0	CCDC88C CL E G H	440193	19967	ORPHA:423275	Spinocerebellar ataxia type 40		54
HP:0001251	HP:0001251	Ataxia	0	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0001251	HP:0001251	Ataxia	0	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome		6
HP:0001251	HP:0001251	Ataxia	0	CDH23 CL E G H	64072	13733	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent	636
HP:0001251	HP:0001251	Ataxia	0	CDK19 CL E G H	23097	19338	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0001251	HP:0001251	Ataxia	0	CDKL5 CL E G H	6792	11411	ORPHA:3095	Atypical Rett syndrome		405
HP:0001251	HP:0001251	Ataxia	0	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy		405
HP:0001251	HP:0001251	Ataxia	0	CELF2 CL E G H	10659	2550	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0001251	HP:0001251	Ataxia	0	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	5
HP:0001251	HP:0001251	Ataxia	0	CEP104 CL E G H	9731	24866	OMIM:616781	Joubert syndrome 25		5
HP:0001251	HP:0001251	Ataxia	0	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	7
HP:0001251	HP:0001251	Ataxia	0	CEP120 CL E G H	153241	26690	OMIM:617761	Joubert syndrome 31		7
HP:0001251	HP:0001251	Ataxia	0	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040281 - Very frequent	7
HP:0001251	HP:0001251	Ataxia	0	CEP164 CL E G H	22897	29182	ORPHA:3156	Senior-Loken syndrome	HP:0040283 - Occasional	34
HP:0001251	HP:0001251	Ataxia	0	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5	.	342
HP:0001251	HP:0001251	Ataxia	0	CEP290 CL E G H	80184	29021	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040281 - Very frequent	342
HP:0001251	HP:0001251	Ataxia	0	CEP290 CL E G H	80184	29021	ORPHA:3156	Senior-Loken syndrome	HP:0040283 - Occasional	342
HP:0001251	HP:0001251	Ataxia	0	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	90
HP:0001251	HP:0001251	Ataxia	0	CEP41 CL E G H	95681	12370	OMIM:614464	Joubert syndrome 15	.	90
HP:0001251	HP:0001251	Ataxia	0	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040281 - Very frequent	90
HP:0001251	HP:0001251	Ataxia	0	CEP78 CL E G H	84131	25740	ORPHA:231183	Usher syndrome type 3	HP:0040282 - Frequent	9
HP:0001251	HP:0001251	Ataxia	0	CERS1 CL E G H	10715	14253	OMIM:616230	Epilepsy, progressive myoclonic, 8		1
HP:0001251	HP:0001251	Ataxia	0	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40		16
HP:0001251	HP:0001251	Ataxia	0	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	65
HP:0001251	HP:0001251	Ataxia	0	CHCHD10 CL E G H	400916	15559	OMIM:615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	.	11
HP:0001251	HP:0001251	Ataxia	0	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease		11
HP:0001251	HP:0001251	Ataxia	0	CHD2 CL E G H	1106	1917	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040283 - Occasional	227
HP:0001251	HP:0001251	Ataxia	0	CHD7 CL E G H	55636	20626	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	515
HP:0001251	HP:0001251	Ataxia	0	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8		19
HP:0001251	HP:0001251	Ataxia	0	CHP1 CL E G H	11261	17433	OMIM:618438	Spastic ataxia 9, autosomal recessive	.
HP:0001251	HP:0001251	Ataxia	0	CIB2 CL E G H	10518	24579	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent	15
HP:0001251	HP:0001251	Ataxia	0	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II		118
HP:0001251	HP:0001251	Ataxia	0	CISD2 CL E G H	493856	24212	ORPHA:3463	Wolfram syndrome	HP:0040282 - Frequent	3
HP:0001251	HP:0001251	Ataxia	0	CLCN2 CL E G H	1181	2020	OMIM:615651	Leukoencephalopathy with ataxia		44
HP:0001251	HP:0001251	Ataxia	0	CLCN4 CL E G H	1183	2022	ORPHA:485350	CLCN4-related X-linked intellectual disability syndrome		45
HP:0001251	HP:0001251	Ataxia	0	CLCN4 CL E G H	1183	2022	OMIM:300114	Raynaud-Claes syndrome		45
HP:0001251	HP:0001251	Ataxia	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001251	HP:0001251	Ataxia	0	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease		216
HP:0001251	HP:0001251	Ataxia	0	CLN5 CL E G H	1203	2076	OMIM:256731	Ceroid lipofuscinosis, neuronal, 5	.	141
HP:0001251	HP:0001251	Ataxia	0	CLN5 CL E G H	1203	2076	ORPHA:228360	CLN5 disease	HP:0040282 - Frequent	141
HP:0001251	HP:0001251	Ataxia	0	CLN6 CL E G H	54982	2077	OMIM:204300	Ceroid lipofuscinosis, neuronal, 4A, autosomal recessive	.	143
HP:0001251	HP:0001251	Ataxia	0	CLN8 CL E G H	2055	2079	OMIM:600143	Ceroid lipofuscinosis, neuronal, 8	.	111
HP:0001251	HP:0001251	Ataxia	0	CLN8 CL E G H	2055	2079	ORPHA:1947	Progressive epilepsy-intellectual disability syndrome, Finnish type	HP:0040282 - Frequent	111
HP:0001251	HP:0001251	Ataxia	0	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia		38
HP:0001251	HP:0001251	Ataxia	0	CLRN1 CL E G H	7401	12605	ORPHA:231183	Usher syndrome type 3	HP:0040282 - Frequent	60
HP:0001251	HP:0001251	Ataxia	0	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56	.	1
HP:0001251	HP:0001251	Ataxia	0	CLTC CL E G H	1213	2092	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	1
HP:0001251	HP:0001251	Ataxia	0	CLTRN CL E G H	57393	29437	ORPHA:2116	Hartnup disease	HP:0040281 - Very frequent
HP:0001251	HP:0001251	Ataxia	0	CNKSR2 CL E G H	22866	19701	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	18
HP:0001251	HP:0001251	Ataxia	0	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy		518
HP:0001251	HP:0001251	Ataxia	0	CNTNAP2 CL E G H	26047	13830	OMIM:610042	Pitt-Hopkins-Like syndrome 1	.	518
HP:0001251	HP:0001251	Ataxia	0	COA7 CL E G H	65260	25716	OMIM:618387	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3	.
HP:0001251	HP:0001251	Ataxia	0	COA8 CL E G H	84334	20492	OMIM:619061	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17; MC4DN17
HP:0001251	HP:0001251	Ataxia	0	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy	HP:0040282 - Frequent
HP:0001251	HP:0001251	Ataxia	0	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG	HP:0040282 - Frequent	67
HP:0001251	HP:0001251	Ataxia	0	COG4 CL E G H	25839	18620	OMIM:613489	Congenital disorder of glycosylation, type IIj	.	67
HP:0001251	HP:0001251	Ataxia	0	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG		79
HP:0001251	HP:0001251	Ataxia	0	COG5 CL E G H	10466	14857	OMIM:613612	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi; CDG2I		79
HP:0001251	HP:0001251	Ataxia	0	COG8 CL E G H	84342	18623	ORPHA:95428	COG8-CDG	HP:0040282 - Frequent	39
HP:0001251	HP:0001251	Ataxia	0	COG8 CL E G H	84342	18623	OMIM:611182	Congenital disorder of glycosylation, type IIh		39
HP:0001251	HP:0001251	Ataxia	0	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	6
HP:0001251	HP:0001251	Ataxia	0	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1	.	177
HP:0001251	HP:0001251	Ataxia	0	COQ2 CL E G H	27235	25223	OMIM:607426	Coenzyme Q10 deficiency, primary, 1	.	54
HP:0001251	HP:0001251	Ataxia	0	COQ2 CL E G H	27235	25223	OMIM:146500	Multiple system atrophy 1, susceptibility to	.	54
HP:0001251	HP:0001251	Ataxia	0	COQ2 CL E G H	27235	25223	ORPHA:227510	Multiple system atrophy, cerebellar type		54
HP:0001251	HP:0001251	Ataxia	0	COQ2 CL E G H	27235	25223	ORPHA:98933	Multiple system atrophy, parkinsonian type		54
HP:0001251	HP:0001251	Ataxia	0	COQ5 CL E G H	84274	28722	OMIM:619028	COENZYME Q10 DEFICIENCY, PRIMARY, 9; COQ10D9
HP:0001251	HP:0001251	Ataxia	0	COQ8A CL E G H	56997	16812	ORPHA:139485	Autosomal recessive ataxia due to ubiquinone deficiency		136
HP:0001251	HP:0001251	Ataxia	0	COQ8A CL E G H	56997	16812	OMIM:612016	Coenzyme Q10 deficiency, primary, 4	.	136
HP:0001251	HP:0001251	Ataxia	0	COX1 CL E G H	4512	7419	ORPHA:104	Leber hereditary optic neuropathy	HP:0040283 - Occasional
HP:0001251	HP:0001251	Ataxia	0	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0001251	HP:0001251	Ataxia	0	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3		82
HP:0001251	HP:0001251	Ataxia	0	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy		104
HP:0001251	HP:0001251	Ataxia	0	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0001251	HP:0001251	Ataxia	0	COX20 CL E G H	116228	26970	OMIM:619054	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11		25
HP:0001251	HP:0001251	Ataxia	0	COX3 CL E G H	4514	7422	ORPHA:104	Leber hereditary optic neuropathy	HP:0040283 - Occasional
HP:0001251	HP:0001251	Ataxia	0	COX3 CL E G H	4514	7422	OMIM:535000	Leber optic atrophy	.
HP:0001251	HP:0001251	Ataxia	0	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0001251	HP:0001251	Ataxia	0	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7		10
HP:0001251	HP:0001251	Ataxia	0	CP CL E G H	1356	2295	ORPHA:48818	Aceruloplasminemia	HP:0040282 - Frequent	115
HP:0001251	HP:0001251	Ataxia	0	CP CL E G H	1356	2295	OMIM:604290	ACERULOPLASMINEMIA	.	115
HP:0001251	HP:0001251	Ataxia	0	CPLANE1 CL E G H	65250	25801	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent
HP:0001251	HP:0001251	Ataxia	0	CPLANE1 CL E G H	65250	25801	OMIM:614615	Joubert syndrome 17	.
HP:0001251	HP:0001251	Ataxia	0	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent
HP:0001251	HP:0001251	Ataxia	0	CPLX1 CL E G H	10815	2309	ORPHA:352582	Familial infantile myoclonic epilepsy	HP:0040283 - Occasional	1
HP:0001251	HP:0001251	Ataxia	0	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	1
HP:0001251	HP:0001251	Ataxia	0	CPS1 CL E G H	1373	2323	OMIM:237300	Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to	.	124
HP:0001251	HP:0001251	Ataxia	0	CRAT CL E G H	1384	2342	OMIM:617917	Neurodegeneration with brain iron accumulation 8	.
HP:0001251	HP:0001251	Ataxia	0	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis	.	149
HP:0001251	HP:0001251	Ataxia	0	CSPP1 CL E G H	79848	26193	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	57
HP:0001251	HP:0001251	Ataxia	0	CSPP1 CL E G H	79848	26193	OMIM:615636	Joubert syndrome 21	.	57
HP:0001251	HP:0001251	Ataxia	0	CSTB CL E G H	1476	2482	OMIM:254800	Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)		51
HP:0001251	HP:0001251	Ataxia	0	CSTB CL E G H	1476	2482	ORPHA:308	Progressive myoclonic epilepsy type 1	HP:0040282 - Frequent	51
HP:0001251	HP:0001251	Ataxia	0	CTBP1 CL E G H	1487	2494	OMIM:617915	Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome		2
HP:0001251	HP:0001251	Ataxia	0	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	2
HP:0001251	HP:0001251	Ataxia	0	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts	.	160
HP:0001251	HP:0001251	Ataxia	0	CTDP1 CL E G H	9150	2498	OMIM:604168	Congenital cataracts, facial dysmorphism, and neuropathy	.	17
HP:0001251	HP:0001251	Ataxia	0	CTDP1 CL E G H	9150	2498	ORPHA:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome	HP:0040281 - Very frequent	17
HP:0001251	HP:0001251	Ataxia	0	CTNNA2 CL E G H	1496	2510	OMIM:618174	Cortical dysplasia, complex, with other brain malformations 9	.	2
HP:0001251	HP:0001251	Ataxia	0	CTSD CL E G H	1509	2529	OMIM:610127	Ceroid lipofuscinosis, neuronal, 10	.	159
HP:0001251	HP:0001251	Ataxia	0	CTSF CL E G H	8722	2531	OMIM:615362	Ceroid lipofuscinosis, neuronal, 13	.	20
HP:0001251	HP:0001251	Ataxia	0	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type		38
HP:0001251	HP:0001251	Ataxia	0	CWF19L1 CL E G H	55280	25613	ORPHA:453521	Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency		9
HP:0001251	HP:0001251	Ataxia	0	CWF19L1 CL E G H	55280	25613	OMIM:616127	Spinocerebellar ataxia, autosomal recessive 17		9
HP:0001251	HP:0001251	Ataxia	0	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome		9
HP:0001251	HP:0001251	Ataxia	0	CYFIP2 CL E G H	26999	13760	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	1
HP:0001251	HP:0001251	Ataxia	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040282 - Frequent	114
HP:0001251	HP:0001251	Ataxia	0	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis		114
HP:0001251	HP:0001251	Ataxia	0	CYP7B1 CL E G H	9420	2652	ORPHA:100986	Autosomal recessive spastic paraplegia type 5A		57
HP:0001251	HP:0001251	Ataxia	0	CYP7B1 CL E G H	9420	2652	OMIM:270800	Spastic paraplegia 5A, autosomal recessive		57
HP:0001251	HP:0001251	Ataxia	0	CYTB CL E G H	4519	7427	ORPHA:104	Leber hereditary optic neuropathy	HP:0040283 - Occasional
HP:0001251	HP:0001251	Ataxia	0	CYTB CL E G H	4519	7427	OMIM:535000	Leber optic atrophy	.
HP:0001251	HP:0001251	Ataxia	0	DAB1 CL E G H	1600	2661	OMIM:615945	Spinocerebellar ataxia 37	.	4
HP:0001251	HP:0001251	Ataxia	0	DAB1 CL E G H	1600	2661	ORPHA:363710	Spinocerebellar ataxia type 37		4
HP:0001251	HP:0001251	Ataxia	0	DALRD3 CL E G H	55152	25536	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0001251	HP:0001251	Ataxia	0	DARS1 CL E G H	1615	2678	OMIM:615281	HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0001251	HP:0001251	Ataxia	0	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome		60
HP:0001251	HP:0001251	Ataxia	0	DARS2 CL E G H	55157	25538	OMIM:611105	Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation	.	60
HP:0001251	HP:0001251	Ataxia	0	DBT CL E G H	1629	2698	OMIM:248600	Maple syrup urine disease	.	156
HP:0001251	HP:0001251	Ataxia	0	DCC CL E G H	1630	2701	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	36
HP:0001251	HP:0001251	Ataxia	0	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040283 - Occasional	27
HP:0001251	HP:0001251	Ataxia	0	DCX CL E G H	1641	2714	OMIM:300067	Lissencephaly, X-linked, 1	.	145
HP:0001251	HP:0001251	Ataxia	0	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	30
HP:0001251	HP:0001251	Ataxia	0	DEAF1 CL E G H	10522	14677	ORPHA:468620	Intellectual disability-epilepsy-extrapyramidal syndrome		33
HP:0001251	HP:0001251	Ataxia	0	DEGS1 CL E G H	8560	13709	OMIM:618404	Leukodystrophy, hypomyelinating, 18
HP:0001251	HP:0001251	Ataxia	0	DGUOK CL E G H	1716	2858	ORPHA:329314	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency	HP:0040283 - Occasional	57
HP:0001251	HP:0001251	Ataxia	0	DHDDS CL E G H	79947	20603	OMIM:617836	Developmental delay and seizures with or without movement abnormalities		47
HP:0001251	HP:0001251	Ataxia	0	DHDDS CL E G H	79947	20603	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	47
HP:0001251	HP:0001251	Ataxia	0	DHFR CL E G H	1719	2861	OMIM:613839	Megaloblastic anemia due to dihydrofolate reductase deficiency	.	7
HP:0001251	HP:0001251	Ataxia	0	DHX30 CL E G H	22907	16716	OMIM:617804	Neurodevelopmental disorder with severe motor impairment and absent language	.	4
HP:0001251	HP:0001251	Ataxia	0	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked	HP:0040283 - Occasional	65
HP:0001251	HP:0001251	Ataxia	0	DKC1 CL E G H	1736	2890	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040283 - Occasional	65
HP:0001251	HP:0001251	Ataxia	0	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I
HP:0001251	HP:0001251	Ataxia	0	DLAT CL E G H	1737	2896	OMIM:245348	Pyruvate dehydrogenase E2 deficiency	.	82
HP:0001251	HP:0001251	Ataxia	0	DLD CL E G H	1738	2898	OMIM:246900	Dihydrolipoamide dehydrogenase deficiency	.	89
HP:0001251	HP:0001251	Ataxia	0	DLD CL E G H	1738	2898	ORPHA:2394	Pyruvate dehydrogenase E3 deficiency	HP:0040283 - Occasional	89
HP:0001251	HP:0001251	Ataxia	0	DLL1 CL E G H	28514	2908	OMIM:618709	NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES; NEDBAS		3
HP:0001251	HP:0001251	Ataxia	0	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy		3
HP:0001251	HP:0001251	Ataxia	0	DMXL2 CL E G H	23312	2938	ORPHA:453533	Polyendocrine-polyneuropathy syndrome	HP:0040282 - Frequent	3
HP:0001251	HP:0001251	Ataxia	0	DMXL2 CL E G H	23312	2938	OMIM:616113	Polyendocrine-Polyneuropathy syndrome	.	3
HP:0001251	HP:0001251	Ataxia	0	DNAJC19 CL E G H	131118	30528	OMIM:610198	3-@methylglutaconic aciduria, type V		25
HP:0001251	HP:0001251	Ataxia	0	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia	HP:0040281 - Very frequent	25
HP:0001251	HP:0001251	Ataxia	0	DNAJC3 CL E G H	5611	9439	OMIM:616192	Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus		3
HP:0001251	HP:0001251	Ataxia	0	DNAJC3 CL E G H	5611	9439	ORPHA:445062	Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome		3
HP:0001251	HP:0001251	Ataxia	0	DNAJC30 CL E G H	84277	16410	ORPHA:104	Leber hereditary optic neuropathy	HP:0040283 - Occasional
HP:0001251	HP:0001251	Ataxia	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001251	HP:0001251	Ataxia	0	DNAJC5 CL E G H	80331	16235	OMIM:162350	Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant	.	155
HP:0001251	HP:0001251	Ataxia	0	DNAJC6 CL E G H	9829	15469	ORPHA:391411	Atypical juvenile parkinsonism		6
HP:0001251	HP:0001251	Ataxia	0	DNASE1L3 CL E G H	1776	2959	ORPHA:36412	Hypocomplementemic urticarial vasculitis	HP:0040283 - Occasional	3
HP:0001251	HP:0001251	Ataxia	0	DNM1 CL E G H	1759	2972	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	72
HP:0001251	HP:0001251	Ataxia	0	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040283 - Occasional	94
HP:0001251	HP:0001251	Ataxia	0	DNMT1 CL E G H	1786	2976	ORPHA:314404	Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome	HP:0040283 - Occasional	145
HP:0001251	HP:0001251	Ataxia	0	DNMT1 CL E G H	1786	2976	OMIM:604121	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant	.	145
HP:0001251	HP:0001251	Ataxia	0	DOCK3 CL E G H	1795	2989	OMIM:618292	Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia		3
HP:0001251	HP:0001251	Ataxia	0	DOHH CL E G H	83475	28662	OMIM:620066
HP:0001251	HP:0001251	Ataxia	0	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG	HP:0040284 - Very rare	38
HP:0001251	HP:0001251	Ataxia	0	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE	.	27
HP:0001251	HP:0001251	Ataxia	0	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG	HP:0040283 - Occasional	27
HP:0001251	HP:0001251	Ataxia	0	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0001251	HP:0001251	Ataxia	0	DUSP6 CL E G H	1848	3072	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	4
HP:0001251	HP:0001251	Ataxia	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040282 - Frequent	134
HP:0001251	HP:0001251	Ataxia	0	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7		134
HP:0001251	HP:0001251	Ataxia	0	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0001251	HP:0001251	Ataxia	0	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy		33
HP:0001251	HP:0001251	Ataxia	0	EDNRB CL E G H	1910	3180	OMIM:277580	Waardenburg-Shah syndrome	.	55
HP:0001251	HP:0001251	Ataxia	0	EEF1A2 CL E G H	1917	3192	OMIM:616393	Mental retardation, autosomal dominant 38		60
HP:0001251	HP:0001251	Ataxia	0	EEF1A2 CL E G H	1917	3192	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	60
HP:0001251	HP:0001251	Ataxia	0	EEF2 CL E G H	1938	3214	OMIM:609306	Spinocerebellar ataxia 26		4
HP:0001251	HP:0001251	Ataxia	0	EEF2 CL E G H	1938	3214	ORPHA:101112	Spinocerebellar ataxia type 26		4
HP:0001251	HP:0001251	Ataxia	0	EIF2AK2 CL E G H	5610	9437	OMIM:618877	LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0001251	HP:0001251	Ataxia	0	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome		8
HP:0001251	HP:0001251	Ataxia	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001251	HP:0001251	Ataxia	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	172
HP:0001251	HP:0001251	Ataxia	0	ELOVL1 CL E G H	64834	14418	OMIM:618527	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0001251	HP:0001251	Ataxia	0	ELOVL4 CL E G H	6785	14415	OMIM:133190	Spinocerebellar ataxia 34	.	62
HP:0001251	HP:0001251	Ataxia	0	ELOVL4 CL E G H	6785	14415	ORPHA:1955	Spinocerebellar ataxia type 34		62
HP:0001251	HP:0001251	Ataxia	0	ELOVL5 CL E G H	60481	21308	OMIM:615957	Spinocerebellar ataxia 38	.	4
HP:0001251	HP:0001251	Ataxia	0	ELOVL5 CL E G H	60481	21308	ORPHA:423296	Spinocerebellar ataxia type 38		4
HP:0001251	HP:0001251	Ataxia	0	ELP1 CL E G H	8518	5959	ORPHA:1764	Familial dysautonomia	HP:0040282 - Frequent	133
HP:0001251	HP:0001251	Ataxia	0	EPB42 CL E G H	2038	3381	ORPHA:822	Hereditary spherocytosis	HP:0040283 - Occasional	51
HP:0001251	HP:0001251	Ataxia	0	EPM2A CL E G H	7957	3413	ORPHA:501	Lafora disease	HP:0040282 - Frequent	83
HP:0001251	HP:0001251	Ataxia	0	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15	.
HP:0001251	HP:0001251	Ataxia	0	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0001251	HP:0001251	Ataxia	0	ERBB3 CL E G H	2065	3431	OMIM:243180	Visceral neuropathy, familial, autosomal recessive		12
HP:0001251	HP:0001251	Ataxia	0	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2	HP:0040282 - Frequent	20
HP:0001251	HP:0001251	Ataxia	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy		106
HP:0001251	HP:0001251	Ataxia	0	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	106
HP:0001251	HP:0001251	Ataxia	0	ERCC2 CL E G H	2068	3434	OMIM:278730	Xeroderma pigmentosum, complementation group D	.	106
HP:0001251	HP:0001251	Ataxia	0	ERCC2 CL E G H	2068	3434	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent	106
HP:0001251	HP:0001251	Ataxia	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy		54
HP:0001251	HP:0001251	Ataxia	0	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	54
HP:0001251	HP:0001251	Ataxia	0	ERCC3 CL E G H	2071	3435	OMIM:610651	Xeroderma pigmentosum, complementation group B	.	54
HP:0001251	HP:0001251	Ataxia	0	ERCC3 CL E G H	2071	3435	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent	54
HP:0001251	HP:0001251	Ataxia	0	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1	HP:0040282 - Frequent	158
HP:0001251	HP:0001251	Ataxia	0	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	158
HP:0001251	HP:0001251	Ataxia	0	ERCC4 CL E G H	2072	3436	OMIM:278760	Xeroderma pigmentosum, complementation group F	HP:0040283 - Occasional	158
HP:0001251	HP:0001251	Ataxia	0	ERCC4 CL E G H	2072	3436	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent	158
HP:0001251	HP:0001251	Ataxia	0	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	83
HP:0001251	HP:0001251	Ataxia	0	ERCC5 CL E G H	2073	3437	OMIM:278780	Xeroderma pigmentosum, complementation group G	HP:0040283 - Occasional	83
HP:0001251	HP:0001251	Ataxia	0	ERCC5 CL E G H	2073	3437	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent	83
HP:0001251	HP:0001251	Ataxia	0	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1	HP:0040282 - Frequent	199
HP:0001251	HP:0001251	Ataxia	0	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2	HP:0040282 - Frequent	199
HP:0001251	HP:0001251	Ataxia	0	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.	199
HP:0001251	HP:0001251	Ataxia	0	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome	.	199
HP:0001251	HP:0001251	Ataxia	0	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A	.	55
HP:0001251	HP:0001251	Ataxia	0	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1	HP:0040282 - Frequent	55
HP:0001251	HP:0001251	Ataxia	0	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2	HP:0040282 - Frequent	55
HP:0001251	HP:0001251	Ataxia	0	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome		36
HP:0001251	HP:0001251	Ataxia	0	ESPN CL E G H	83715	13281	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent	33
HP:0001251	HP:0001251	Ataxia	0	ETHE1 CL E G H	23474	23287	OMIM:602473	Encephalopathy, ethylmalonic	.	42
HP:0001251	HP:0001251	Ataxia	0	ETHE1 CL E G H	23474	23287	ORPHA:51188	Ethylmalonic encephalopathy	HP:0040282 - Frequent	42
HP:0001251	HP:0001251	Ataxia	0	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1		38
HP:0001251	HP:0001251	Ataxia	0	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0001251	HP:0001251	Ataxia	0	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1		4
HP:0001251	HP:0001251	Ataxia	0	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0001251	HP:0001251	Ataxia	0	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35		76
HP:0001251	HP:0001251	Ataxia	0	FA2H CL E G H	79152	21197	ORPHA:329308	Fatty acid hydroxylase-associated neurodegeneration		76
HP:0001251	HP:0001251	Ataxia	0	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive	.	76
HP:0001251	HP:0001251	Ataxia	0	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent
HP:0001251	HP:0001251	Ataxia	0	FAS CL E G H	355	11920	ORPHA:117	Behçet disease	HP:0040283 - Occasional	59
HP:0001251	HP:0001251	Ataxia	0	FAT2 CL E G H	2196	3596	OMIM:617769	Spinocerebellar ataxia 45	.	2
HP:0001251	HP:0001251	Ataxia	0	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040283 - Occasional	114
HP:0001251	HP:0001251	Ataxia	0	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	HP:0040283 - Occasional	384
HP:0001251	HP:0001251	Ataxia	0	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0001251	HP:0001251	Ataxia	0	FBXW7 CL E G H	55294	16712	OMIM:620012			22
HP:0001251	HP:0001251	Ataxia	0	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome	HP:0040282 - Frequent
HP:0001251	HP:0001251	Ataxia	0	FEZF1 CL E G H	389549	22788	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	2
HP:0001251	HP:0001251	Ataxia	0	FGF12 CL E G H	2257	3668	OMIM:617166	Epileptic encephalopathy, early infantile, 47		3
HP:0001251	HP:0001251	Ataxia	0	FGF12 CL E G H	2257	3668	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	3
HP:0001251	HP:0001251	Ataxia	0	FGF13 CL E G H	2258	3670	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	1
HP:0001251	HP:0001251	Ataxia	0	FGF14 CL E G H	2259	3671	OMIM:193003	Nystagmus 4, congenital, autosomal dominant		47
HP:0001251	HP:0001251	Ataxia	0	FGF14 CL E G H	2259	3671	ORPHA:98764	Spinocerebellar ataxia type 27		47
HP:0001251	HP:0001251	Ataxia	0	FGF17 CL E G H	8822	3673	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	3
HP:0001251	HP:0001251	Ataxia	0	FGF8 CL E G H	2253	3686	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	17
HP:0001251	HP:0001251	Ataxia	0	FGFR1 CL E G H	2260	3688	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	172
HP:0001251	HP:0001251	Ataxia	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001251	HP:0001251	Ataxia	0	FLRT3 CL E G H	23767	3762	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	4
HP:0001251	HP:0001251	Ataxia	0	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa		111
HP:0001251	HP:0001251	Ataxia	0	FLVCR1 CL E G H	28982	24682	ORPHA:88628	Posterior column ataxia-retinitis pigmentosa syndrome	HP:0040281 - Very frequent	111
HP:0001251	HP:0001251	Ataxia	0	FMR1 CL E G H	2332	3775	OMIM:300623	Fragile X tremor/ataxia syndrome		30
HP:0001251	HP:0001251	Ataxia	0	FMR1 CL E G H	2332	3775	ORPHA:93256	Fragile X-associated tremor/ataxia syndrome	HP:0040281 - Very frequent	30
HP:0001251	HP:0001251	Ataxia	0	FOXI1 CL E G H	2299	3815	ORPHA:705	Pendred syndrome	HP:0040283 - Occasional	33
HP:0001251	HP:0001251	Ataxia	0	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	61
HP:0001251	HP:0001251	Ataxia	0	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy		61
HP:0001251	HP:0001251	Ataxia	0	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia	.	1
HP:0001251	HP:0001251	Ataxia	0	FRMD4A CL E G H	55691	25491	ORPHA:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome		1
HP:0001251	HP:0001251	Ataxia	0	FRMD5 CL E G H	84978	28214	OMIM:620094
HP:0001251	HP:0001251	Ataxia	0	FRMPD4 CL E G H	9758	29007	OMIM:300983	MENTAL RETARDATION, X-LINKED 104; MRX104		32
HP:0001251	HP:0001251	Ataxia	0	FSHR CL E G H	2492	3969	ORPHA:243	46,XX gonadal dysgenesis	HP:0040284 - Very rare	50
HP:0001251	HP:0001251	Ataxia	0	FTL CL E G H	2512	3999	OMIM:606159	Neurodegeneration with brain iron accumulation 3	.	33
HP:0001251	HP:0001251	Ataxia	0	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease		105
HP:0001251	HP:0001251	Ataxia	0	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional	105
HP:0001251	HP:0001251	Ataxia	0	FUZ CL E G H	80199	26219	ORPHA:1136	Arnold-Chiari malformation type II	HP:0040283 - Occasional	3
HP:0001251	HP:0001251	Ataxia	0	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia		18
HP:0001251	HP:0001251	Ataxia	0	FXN CL E G H	2395	3951	OMIM:229300	Friedreich ataxia 1	.	18
HP:0001251	HP:0001251	Ataxia	0	FZR1 CL E G H	51343	24824	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0001251	HP:0001251	Ataxia	0	GABBR2 CL E G H	9568	4507	ORPHA:3095	Atypical Rett syndrome		5
HP:0001251	HP:0001251	Ataxia	0	GABBR2 CL E G H	9568	4507	OMIM:617904	Epileptic encephalopathy, early infantile, 59		5
HP:0001251	HP:0001251	Ataxia	0	GABBR2 CL E G H	9568	4507	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	5
HP:0001251	HP:0001251	Ataxia	0	GABRA1 CL E G H	2554	4075	ORPHA:33069	Dravet syndrome		134
HP:0001251	HP:0001251	Ataxia	0	GABRA2 CL E G H	2555	4076	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	4
HP:0001251	HP:0001251	Ataxia	0	GABRA5 CL E G H	2558	4079	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0001251	HP:0001251	Ataxia	0	GABRB1 CL E G H	2560	4081	OMIM:617153	Epileptic encephalopathy, early infantile, 45	.	3
HP:0001251	HP:0001251	Ataxia	0	GABRB2 CL E G H	2561	4082	OMIM:617829	Epileptic encephalopathy, infantile or early childhood, 2	.	44
HP:0001251	HP:0001251	Ataxia	0	GABRB2 CL E G H	2561	4082	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	44
HP:0001251	HP:0001251	Ataxia	0	GABRB3 CL E G H	2562	4083	OMIM:617113	Epileptic encephalopathy, early infantile, 43	.	57
HP:0001251	HP:0001251	Ataxia	0	GABRD CL E G H	2563	4084	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040283 - Occasional	10
HP:0001251	HP:0001251	Ataxia	0	GABRG2 CL E G H	2566	4087	ORPHA:33069	Dravet syndrome		139
HP:0001251	HP:0001251	Ataxia	0	GABRG2 CL E G H	2566	4087	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040283 - Occasional	139
HP:0001251	HP:0001251	Ataxia	0	GABRG2 CL E G H	2566	4087	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	139
HP:0001251	HP:0001251	Ataxia	0	GALC CL E G H	2581	4115	ORPHA:206448	Adult Krabbe disease	HP:0040282 - Frequent	160
HP:0001251	HP:0001251	Ataxia	0	GALC CL E G H	2581	4115	ORPHA:206443	Late-infantile/juvenile Krabbe disease	HP:0040283 - Occasional	160
HP:0001251	HP:0001251	Ataxia	0	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia	HP:0040283 - Occasional	351
HP:0001251	HP:0001251	Ataxia	0	GAMT CL E G H	2593	4136	OMIM:612736	Cerebral creatine deficiency syndrome 2	.	91
HP:0001251	HP:0001251	Ataxia	0	GAMT CL E G H	2593	4136	ORPHA:382	Guanidinoacetate methyltransferase deficiency	HP:0040283 - Occasional	91
HP:0001251	HP:0001251	Ataxia	0	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3	HP:0040282 - Frequent
HP:0001251	HP:0001251	Ataxia	0	GBA1 CL E G H	2629	4177	OMIM:231000	Gaucher disease, type III	.
HP:0001251	HP:0001251	Ataxia	0	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0001251	HP:0001251	Ataxia	0	GBA2 CL E G H	57704	18986	ORPHA:352641	Autosomal recessive cerebellar ataxia with late-onset spasticity		30
HP:0001251	HP:0001251	Ataxia	0	GBA2 CL E G H	57704	18986	ORPHA:320391	Autosomal recessive spastic paraplegia type 46	HP:0040281 - Very frequent	30
HP:0001251	HP:0001251	Ataxia	0	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive		30
HP:0001251	HP:0001251	Ataxia	0	GBE1 CL E G H	2632	4180	ORPHA:206583	Adult polyglucosan body disease	HP:0040283 - Occasional	86
HP:0001251	HP:0001251	Ataxia	0	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency	HP:0040283 - Occasional	115
HP:0001251	HP:0001251	Ataxia	0	GCH1 CL E G H	2643	4193	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040282 - Frequent	86
HP:0001251	HP:0001251	Ataxia	0	GCH1 CL E G H	2643	4193	OMIM:128230	Dystonia, DOPA-responsive, with or without hyperphenylalaninemia		86
HP:0001251	HP:0001251	Ataxia	0	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040283 - Occasional	237
HP:0001251	HP:0001251	Ataxia	0	GCLC CL E G H	2729	4311	ORPHA:33574	Glutamate-cysteine ligase deficiency	HP:0040283 - Occasional	2
HP:0001251	HP:0001251	Ataxia	0	GDAP2 CL E G H	54834	18010	OMIM:618369	Spinocerebellar ataxia, autosomal recessive 27
HP:0001251	HP:0001251	Ataxia	0	GEMIN5 CL E G H	25929	20043	OMIM:619333	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION; NEDCAM
HP:0001251	HP:0001251	Ataxia	0	GFAP CL E G H	2670	4235	OMIM:203450	Alexander disease		188
HP:0001251	HP:0001251	Ataxia	0	GFAP CL E G H	2670	4235	ORPHA:363717	Alexander disease type I		188
HP:0001251	HP:0001251	Ataxia	0	GFAP CL E G H	2670	4235	ORPHA:363722	Alexander disease type II		188
HP:0001251	HP:0001251	Ataxia	0	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040282 - Frequent	68
HP:0001251	HP:0001251	Ataxia	0	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia	.	68
HP:0001251	HP:0001251	Ataxia	0	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1		107
HP:0001251	HP:0001251	Ataxia	0	GJB1 CL E G H	2705	4283	ORPHA:101075	X-linked Charcot-Marie-Tooth disease type 1	HP:0040283 - Occasional	107
HP:0001251	HP:0001251	Ataxia	0	GJB1 CL E G H	2705	4283	ORPHA:1175	X-linked progressive cerebellar ataxia		107
HP:0001251	HP:0001251	Ataxia	0	GJC2 CL E G H	57165	17494	ORPHA:320401	Autosomal recessive spastic paraplegia type 44	HP:0040281 - Very frequent	37
HP:0001251	HP:0001251	Ataxia	0	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2	.	37
HP:0001251	HP:0001251	Ataxia	0	GJC2 CL E G H	57165	17494	OMIM:613206	Spastic paraplegia 44, autosomal recessive		37
HP:0001251	HP:0001251	Ataxia	0	GLB1 CL E G H	2720	4298	OMIM:230600	Gm1-gangliosidosis, type II	.	120
HP:0001251	HP:0001251	Ataxia	0	GLRA1 CL E G H	2741	4326	ORPHA:3197	Hereditary hyperekplexia	HP:0040281 - Very frequent	63
HP:0001251	HP:0001251	Ataxia	0	GLRB CL E G H	2743	4329	ORPHA:3197	Hereditary hyperekplexia	HP:0040281 - Very frequent	46
HP:0001251	HP:0001251	Ataxia	0	GLRX5 CL E G H	51218	20134	ORPHA:401866	Childhood-onset spasticity with hyperglycinemia	HP:0040283 - Occasional	17
HP:0001251	HP:0001251	Ataxia	0	GLRX5 CL E G H	51218	20134	OMIM:616859	Spasticity, childhood-onset, with hyperglycinemia		17
HP:0001251	HP:0001251	Ataxia	0	GLS CL E G H	2744	4331	OMIM:618412	Global developmental delay, progressive ataxia, and elevated glutamine
HP:0001251	HP:0001251	Ataxia	0	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome		24
HP:0001251	HP:0001251	Ataxia	0	GMPPA CL E G H	29926	22923	ORPHA:869	Triple A syndrome	HP:0040283 - Occasional	24
HP:0001251	HP:0001251	Ataxia	0	GMPPB CL E G H	29925	22932	OMIM:615350	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14	.	34
HP:0001251	HP:0001251	Ataxia	0	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy		36
HP:0001251	HP:0001251	Ataxia	0	GOSR2 CL E G H	9570	4431	OMIM:614018	Epilepsy, progressive myoclonic, 6	.	88
HP:0001251	HP:0001251	Ataxia	0	GPAA1 CL E G H	8733	4446	OMIM:617810	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15
HP:0001251	HP:0001251	Ataxia	0	GPAA1 CL E G H	8733	4446	ORPHA:529665	Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome
HP:0001251	HP:0001251	Ataxia	0	GPHN CL E G H	10243	15465	ORPHA:3197	Hereditary hyperekplexia	HP:0040281 - Very frequent	18
HP:0001251	HP:0001251	Ataxia	0	GPI CL E G H	2821	4458	OMIM:613470	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerasedeficiency	.	12
HP:0001251	HP:0001251	Ataxia	0	GRIA2 CL E G H	2891	4572	OMIM:618917	NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; NEDLIB		1
HP:0001251	HP:0001251	Ataxia	0	GRID2 CL E G H	2895	4576	ORPHA:363432	Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency		18
HP:0001251	HP:0001251	Ataxia	0	GRID2 CL E G H	2895	4576	OMIM:616204	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR18		18
HP:0001251	HP:0001251	Ataxia	0	GRIK2 CL E G H	2898	4580	OMIM:619580	NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS		32
HP:0001251	HP:0001251	Ataxia	0	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy		108
HP:0001251	HP:0001251	Ataxia	0	GRIN2A CL E G H	2903	4585	ORPHA:98818	Landau-Kleffner syndrome		434
HP:0001251	HP:0001251	Ataxia	0	GRIN2D CL E G H	2906	4588	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	2
HP:0001251	HP:0001251	Ataxia	0	GRM1 CL E G H	2911	4593	ORPHA:324262	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency		8
HP:0001251	HP:0001251	Ataxia	0	GRM1 CL E G H	2911	4593	OMIM:617691	SPINOCEREBELLAR ATAXIA 44; SCA44		8
HP:0001251	HP:0001251	Ataxia	0	GRM1 CL E G H	2911	4593	OMIM:614831	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13		8
HP:0001251	HP:0001251	Ataxia	0	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy		5
HP:0001251	HP:0001251	Ataxia	0	GRN CL E G H	2896	4601	OMIM:614706	Ceroid lipofuscinosis, neuronal, 11	.	126
HP:0001251	HP:0001251	Ataxia	0	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis	HP:0040282 - Frequent	53
HP:0001251	HP:0001251	Ataxia	0	GSS CL E G H	2937	4624	OMIM:266130	Glutathione synthetase deficiency	.	39
HP:0001251	HP:0001251	Ataxia	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy		2
HP:0001251	HP:0001251	Ataxia	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy		3
HP:0001251	HP:0001251	Ataxia	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0001251	HP:0001251	Ataxia	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0001251	HP:0001251	Ataxia	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0001251	HP:0001251	Ataxia	0	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0001251	HP:0001251	Ataxia	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0001251	HP:0001251	Ataxia	0	HACE1 CL E G H	57531	21033	OMIM:616756	Spastic paraplegia and psychomotor retardation with or without seizures	.	10
HP:0001251	HP:0001251	Ataxia	0	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome	HP:0040282 - Frequent	10
HP:0001251	HP:0001251	Ataxia	0	HARS1 CL E G H	3035	4816	ORPHA:231183	Usher syndrome type 3	HP:0040282 - Frequent
HP:0001251	HP:0001251	Ataxia	0	HARS1 CL E G H	3035	4816	OMIM:614504	Usher syndrome, type IIIB	.
HP:0001251	HP:0001251	Ataxia	0	HCN1 CL E G H	348980	4845	OMIM:615871	Epileptic encephalopathy, early infantile, 24	HP:0040283 - Occasional	54
HP:0001251	HP:0001251	Ataxia	0	HCN1 CL E G H	348980	4845	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040283 - Occasional	54
HP:0001251	HP:0001251	Ataxia	0	HCN1 CL E G H	348980	4845	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	54
HP:0001251	HP:0001251	Ataxia	0	HEPACAM CL E G H	220296	26361	OMIM:604004	Megalencephalic leukoencephalopathy with subcortical cysts 1	.	82
HP:0001251	HP:0001251	Ataxia	0	HEPACAM CL E G H	220296	26361	OMIM:613925	Megalencephalic leukoencephalopathy with subcortical cysts 2A	.	82
HP:0001251	HP:0001251	Ataxia	0	HERC1 CL E G H	8925	4867	OMIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation		16
HP:0001251	HP:0001251	Ataxia	0	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome		16
HP:0001251	HP:0001251	Ataxia	0	HESX1 CL E G H	8820	4877	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	21
HP:0001251	HP:0001251	Ataxia	0	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease	.	80
HP:0001251	HP:0001251	Ataxia	0	HEXB CL E G H	3074	4879	ORPHA:309169	Sandhoff disease, adult form		80
HP:0001251	HP:0001251	Ataxia	0	HEXB CL E G H	3074	4879	ORPHA:309162	Sandhoff disease, juvenile form		80
HP:0001251	HP:0001251	Ataxia	0	HIBCH CL E G H	26275	4908	OMIM:250620	3-Hydroxyisobutyryl-Coa hydrolase deficiency	.	32
HP:0001251	HP:0001251	Ataxia	0	HIBCH CL E G H	26275	4908	ORPHA:88639	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency		32
HP:0001251	HP:0001251	Ataxia	0	HIC1 CL E G H	3090	4909	ORPHA:531	Miller-Dieker syndrome	HP:0040283 - Occasional
HP:0001251	HP:0001251	Ataxia	0	HIKESHI CL E G H	51501	26938	OMIM:616881	Leukodystrophy, hypomyelinating, 13	HP:0040283 - Occasional	3
HP:0001251	HP:0001251	Ataxia	0	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43		13
HP:0001251	HP:0001251	Ataxia	0	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA		11
HP:0001251	HP:0001251	Ataxia	0	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease	HP:0040283 - Occasional	4
HP:0001251	HP:0001251	Ataxia	0	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	4
HP:0001251	HP:0001251	Ataxia	0	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0001251	HP:0001251	Ataxia	0	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0001251	HP:0001251	Ataxia	0	HLA-DQB1 CL E G H	3119	4944	OMIM:123400	Creutzfeldt-Jakob disease
HP:0001251	HP:0001251	Ataxia	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	2
HP:0001251	HP:0001251	Ataxia	0	HLCS CL E G H	3141	4976	ORPHA:79242	Holocarboxylase synthetase deficiency	HP:0040283 - Occasional	148
HP:0001251	HP:0001251	Ataxia	0	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria	HP:0040284 - Very rare	35
HP:0001251	HP:0001251	Ataxia	0	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0001251	HP:0001251	Ataxia	0	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB		3
HP:0001251	HP:0001251	Ataxia	0	HPDL CL E G H	84842	28242	OMIM:619027	SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE; SPG83
HP:0001251	HP:0001251	Ataxia	0	HS6ST1 CL E G H	9394	5201	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	8
HP:0001251	HP:0001251	Ataxia	0	HSD17B4 CL E G H	3295	5213	OMIM:233400	Perrault syndrome 1		98
HP:0001251	HP:0001251	Ataxia	0	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)	.	34
HP:0001251	HP:0001251	Ataxia	0	HTRA1 CL E G H	5654	9476	ORPHA:199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy		34
HP:0001251	HP:0001251	Ataxia	0	HTT CL E G H	3064	4851	OMIM:143100	Huntington disease		12
HP:0001251	HP:0001251	Ataxia	0	HTT CL E G H	3064	4851	ORPHA:248111	Juvenile Huntington disease	HP:0040282 - Frequent	12
HP:0001251	HP:0001251	Ataxia	0	HYLS1 CL E G H	219844	26558	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	31
HP:0001251	HP:0001251	Ataxia	0	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease	HP:0040283 - Occasional	60
HP:0001251	HP:0001251	Ataxia	0	IFRD1 CL E G H	3475	5456	ORPHA:98771	Spinocerebellar ataxia type 18		1
HP:0001251	HP:0001251	Ataxia	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly	.	148
HP:0001251	HP:0001251	Ataxia	0	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease	HP:0040283 - Occasional	2
HP:0001251	HP:0001251	Ataxia	0	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0001251	HP:0001251	Ataxia	0	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0001251	HP:0001251	Ataxia	0	IL17RD CL E G H	54756	17616	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	9
HP:0001251	HP:0001251	Ataxia	0	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0001251	HP:0001251	Ataxia	0	IMPDH2 CL E G H	3615	6053	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040282 - Frequent	1
HP:0001251	HP:0001251	Ataxia	0	INPP5E CL E G H	56623	21474	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	111
HP:0001251	HP:0001251	Ataxia	0	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1		111
HP:0001251	HP:0001251	Ataxia	0	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040281 - Very frequent	111
HP:0001251	HP:0001251	Ataxia	0	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040281 - Very frequent	111
HP:0001251	HP:0001251	Ataxia	0	INPP5K CL E G H	51763	33882	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040281 - Very frequent	7
HP:0001251	HP:0001251	Ataxia	0	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040283 - Occasional	62
HP:0001251	HP:0001251	Ataxia	0	INVS CL E G H	27130	17870	ORPHA:3156	Senior-Loken syndrome	HP:0040283 - Occasional	106
HP:0001251	HP:0001251	Ataxia	0	IQCB1 CL E G H	9657	28949	ORPHA:3156	Senior-Loken syndrome	HP:0040283 - Occasional	61
HP:0001251	HP:0001251	Ataxia	0	IQSEC1 CL E G H	9922	29112	OMIM:618687	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES; IDDSSBA
HP:0001251	HP:0001251	Ataxia	0	IRF2BPL CL E G H	64207	14282	OMIM:618088	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	.
HP:0001251	HP:0001251	Ataxia	0	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease	HP:0040283 - Occasional	1
HP:0001251	HP:0001251	Ataxia	0	ITM2B CL E G H	9445	6174	OMIM:117300	Dementia, familial danish		3
HP:0001251	HP:0001251	Ataxia	0	ITPR1 CL E G H	3708	6180	ORPHA:1065	Aniridia-cerebellar ataxia-intellectual disability syndrome	HP:0040281 - Very frequent	177
HP:0001251	HP:0001251	Ataxia	0	ITPR1 CL E G H	3708	6180	OMIM:206700	Gillespie syndrome	.	177
HP:0001251	HP:0001251	Ataxia	0	ITPR1 CL E G H	3708	6180	OMIM:606658	Spinocerebellar ataxia 15		177
HP:0001251	HP:0001251	Ataxia	0	ITPR1 CL E G H	3708	6180	OMIM:117360	Spinocerebellar ataxia 29	.	177
HP:0001251	HP:0001251	Ataxia	0	ITPR1 CL E G H	3708	6180	ORPHA:98769	Spinocerebellar ataxia type 15/16	HP:0040281 - Very frequent	177
HP:0001251	HP:0001251	Ataxia	0	ITPR1 CL E G H	3708	6180	ORPHA:208513	Spinocerebellar ataxia type 29	HP:0040283 - Occasional	177
HP:0001251	HP:0001251	Ataxia	0	JAM2 CL E G H	58494	14686	OMIM:618824	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8
HP:0001251	HP:0001251	Ataxia	0	KARS1 CL E G H	3735	6215	OMIM:619196	DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY; DEAPLE
HP:0001251	HP:0001251	Ataxia	0	KATNIP CL E G H	23247	29068	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent
HP:0001251	HP:0001251	Ataxia	0	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy		145
HP:0001251	HP:0001251	Ataxia	0	KCNA1 CL E G H	3736	6218	OMIM:160120	Episodic ataxia, type 1		145
HP:0001251	HP:0001251	Ataxia	0	KCNA1 CL E G H	3736	6218	ORPHA:972	Hereditary continuous muscle fiber activity	HP:0040282 - Frequent	145
HP:0001251	HP:0001251	Ataxia	0	KCNA2 CL E G H	3737	6220	OMIM:616366	Epileptic encephalopathy, early infantile, 32	.	13
HP:0001251	HP:0001251	Ataxia	0	KCNA2 CL E G H	3737	6220	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	13
HP:0001251	HP:0001251	Ataxia	0	KCNB1 CL E G H	3745	6231	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	65
HP:0001251	HP:0001251	Ataxia	0	KCNC1 CL E G H	3746	6233	OMIM:616187	Epilepsy, progressive myoclonic 7	HP:0040283 - Occasional	6
HP:0001251	HP:0001251	Ataxia	0	KCNC2 CL E G H	3747	6234	OMIM:619913
HP:0001251	HP:0001251	Ataxia	0	KCNC3 CL E G H	3748	6235	OMIM:605259	Spinocerebellar ataxia 13		17
HP:0001251	HP:0001251	Ataxia	0	KCNC3 CL E G H	3748	6235	ORPHA:98768	Spinocerebellar ataxia type 13		17
HP:0001251	HP:0001251	Ataxia	0	KCND3 CL E G H	3752	6239	OMIM:607346	Spinocerebellar ataxia 19		35
HP:0001251	HP:0001251	Ataxia	0	KCND3 CL E G H	3752	6239	ORPHA:98772	Spinocerebellar ataxia type 19/22	HP:0040281 - Very frequent	35
HP:0001251	HP:0001251	Ataxia	0	KCNJ10 CL E G H	3766	6256	ORPHA:199343	EAST syndrome	HP:0040281 - Very frequent	121
HP:0001251	HP:0001251	Ataxia	0	KCNJ10 CL E G H	3766	6256	ORPHA:705	Pendred syndrome	HP:0040283 - Occasional	121
HP:0001251	HP:0001251	Ataxia	0	KCNJ10 CL E G H	3766	6256	OMIM:612780	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance	.	121
HP:0001251	HP:0001251	Ataxia	0	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040283 - Occasional	127
HP:0001251	HP:0001251	Ataxia	0	KCNMA1 CL E G H	3778	6284	OMIM:618729	LIANG-WANG SYNDROME; LIWAS		114
HP:0001251	HP:0001251	Ataxia	0	KCNN2 CL E G H	3781	6291	OMIM:619725	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0001251	HP:0001251	Ataxia	0	KCTD7 CL E G H	154881	21957	OMIM:611726	Epilepsy, progressive myoclonic 3, with or without intracellular inclusions		106
HP:0001251	HP:0001251	Ataxia	0	KCTD7 CL E G H	154881	21957	ORPHA:263516	Progressive myoclonic epilepsy type 3		106
HP:0001251	HP:0001251	Ataxia	0	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0001251	HP:0001251	Ataxia	0	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65		2
HP:0001251	HP:0001251	Ataxia	0	KIAA0586 CL E G H	9786	19960	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	24
HP:0001251	HP:0001251	Ataxia	0	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	4
HP:0001251	HP:0001251	Ataxia	0	KIF1A CL E G H	547	888	ORPHA:101010	Autosomal spastic paraplegia type 30	HP:0040282 - Frequent	276
HP:0001251	HP:0001251	Ataxia	0	KIF1A CL E G H	547	888	OMIM:610357	Spastic paraplegia 30, autosomal recessive	HP:0040282 - Frequent	276
HP:0001251	HP:0001251	Ataxia	0	KIF1B CL E G H	23095	16636	OMIM:256700	Neuroblastoma, susceptibility to	.	202
HP:0001251	HP:0001251	Ataxia	0	KIF1C CL E G H	10749	6317	ORPHA:397946	Autosomal spastic paraplegia type 58		38
HP:0001251	HP:0001251	Ataxia	0	KIF1C CL E G H	10749	6317	OMIM:611302	Spastic ataxia 2, autosomal recessive		38
HP:0001251	HP:0001251	Ataxia	0	KIF5A CL E G H	3798	6323	OMIM:604187	Spastic paraplegia 10, autosomal dominant	HP:0040283 - Occasional	93
HP:0001251	HP:0001251	Ataxia	0	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	167
HP:0001251	HP:0001251	Ataxia	0	KIT CL E G H	3815	6342	ORPHA:2884	Piebaldism	HP:0040283 - Occasional	327
HP:0001251	HP:0001251	Ataxia	0	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	1
HP:0001251	HP:0001251	Ataxia	0	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0001251	HP:0001251	Ataxia	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0001251	HP:0001251	Ataxia	0	L1CAM CL E G H	3897	6470	ORPHA:306617	X-linked complicated spastic paraplegia type 1	HP:0040283 - Occasional	134
HP:0001251	HP:0001251	Ataxia	0	LAGE3 CL E G H	8270	26058	OMIM:301006	Galloway-Mowat syndrome 2, X-linked
HP:0001251	HP:0001251	Ataxia	0	LAMA1 CL E G H	284217	6481	ORPHA:370022	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome	HP:0040281 - Very frequent	35
HP:0001251	HP:0001251	Ataxia	0	LARS2 CL E G H	23395	17095	OMIM:615300	Perrault syndrome 4		54
HP:0001251	HP:0001251	Ataxia	0	LETM1 CL E G H	3954	6556	OMIM:620089			2
HP:0001251	HP:0001251	Ataxia	0	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	2
HP:0001251	HP:0001251	Ataxia	0	LGI3 CL E G H	203190	18711	OMIM:620007
HP:0001251	HP:0001251	Ataxia	0	LIG3 CL E G H	3980	6600	OMIM:619780	MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE); MTDPS20		1
HP:0001251	HP:0001251	Ataxia	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001251	HP:0001251	Ataxia	0	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy		21
HP:0001251	HP:0001251	Ataxia	0	LITAF CL E G H	9516	16841	OMIM:601098	Charcot-Marie-Tooth disease, demyelinating, type 1C		74
HP:0001251	HP:0001251	Ataxia	0	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy	HP:0040281 - Very frequent	44
HP:0001251	HP:0001251	Ataxia	0	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant		44
HP:0001251	HP:0001251	Ataxia	0	LMNB2 CL E G H	84823	6638	OMIM:616540	Epilepsy, progressive myoclonic, 9		11
HP:0001251	HP:0001251	Ataxia	0	LNPK CL E G H	80856	21610	OMIM:618090	Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum
HP:0001251	HP:0001251	Ataxia	0	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040283 - Occasional	8
HP:0001251	HP:0001251	Ataxia	0	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0001251	HP:0001251	Ataxia	0	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	HP:0040282 - Frequent	191
HP:0001251	HP:0001251	Ataxia	0	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type	.	191
HP:0001251	HP:0001251	Ataxia	0	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8	.	10
HP:0001251	HP:0001251	Ataxia	0	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040283 - Occasional	239
HP:0001251	HP:0001251	Ataxia	0	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome		239
HP:0001251	HP:0001251	Ataxia	0	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome
HP:0001251	HP:0001251	Ataxia	0	MAG CL E G H	4099	6783	ORPHA:459056	Autosomal recessive spastic paraplegia type 75		4
HP:0001251	HP:0001251	Ataxia	0	MAG CL E G H	4099	6783	OMIM:616680	Spastic paraplegia 75, autosomal recessive		4
HP:0001251	HP:0001251	Ataxia	0	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome		93
HP:0001251	HP:0001251	Ataxia	0	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis		136
HP:0001251	HP:0001251	Ataxia	0	MAN2B1 CL E G H	4125	6826	ORPHA:309288	Alpha-mannosidosis, adult form	HP:0040282 - Frequent	136
HP:0001251	HP:0001251	Ataxia	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040282 - Frequent	136
HP:0001251	HP:0001251	Ataxia	0	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities	.
HP:0001251	HP:0001251	Ataxia	0	MARS1 CL E G H	4141	6898	OMIM:619692	TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE; TTD9
HP:0001251	HP:0001251	Ataxia	0	MARS2 CL E G H	92935	25133	ORPHA:314603	Autosomal recessive spastic ataxia with leukoencephalopathy		25
HP:0001251	HP:0001251	Ataxia	0	MARS2 CL E G H	92935	25133	OMIM:611390	Spastic ataxia 3, autosomal recessive		25
HP:0001251	HP:0001251	Ataxia	0	MAST1 CL E G H	22983	19034	OMIM:618273	Mega-Corpus-Callosum syndrome with cerebellar hypoplasia and cortical malformations	.	1
HP:0001251	HP:0001251	Ataxia	0	MBD5 CL E G H	55777	20444	ORPHA:228402	2q23.1 microdeletion syndrome	HP:0040282 - Frequent	252
HP:0001251	HP:0001251	Ataxia	0	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1	.	252
HP:0001251	HP:0001251	Ataxia	0	MCM3AP CL E G H	8888	6946	OMIM:618124	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development		3
HP:0001251	HP:0001251	Ataxia	0	MCOLN1 CL E G H	57192	13356	ORPHA:578	Mucolipidosis type IV	HP:0040282 - Frequent	78
HP:0001251	HP:0001251	Ataxia	0	MECP2 CL E G H	4204	6990	ORPHA:3095	Atypical Rett syndrome		950
HP:0001251	HP:0001251	Ataxia	0	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type	.	950
HP:0001251	HP:0001251	Ataxia	0	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13	.	950
HP:0001251	HP:0001251	Ataxia	0	MECP2 CL E G H	4204	6990	OMIM:312750	Rett syndrome		950
HP:0001251	HP:0001251	Ataxia	0	MECR CL E G H	51102	19691	OMIM:617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities	.	6
HP:0001251	HP:0001251	Ataxia	0	MECR CL E G H	51102	19691	ORPHA:508093	MEPAN syndrome		6
HP:0001251	HP:0001251	Ataxia	0	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency	HP:0040283 - Occasional	74
HP:0001251	HP:0001251	Ataxia	0	MED13L CL E G H	23389	22962	OMIM:616789	Mental retardation and distinctive facial features with or without cardiac defects		74
HP:0001251	HP:0001251	Ataxia	0	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease	HP:0040283 - Occasional	281
HP:0001251	HP:0001251	Ataxia	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0001251	HP:0001251	Ataxia	0	MFSD8 CL E G H	256471	28486	OMIM:610951	Ceroid lipofuscinosis, neuronal, 7	.	120
HP:0001251	HP:0001251	Ataxia	0	MICOS13 CL E G H	125988	33702	ORPHA:67047	3-methylglutaconic aciduria type 3	HP:0040282 - Frequent
HP:0001251	HP:0001251	Ataxia	0	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs	HP:0040283 - Occasional	14
HP:0001251	HP:0001251	Ataxia	0	MICU1 CL E G H	10367	1530	ORPHA:401768	Proximal myopathy with extrapyramidal signs	HP:0040283 - Occasional	14
HP:0001251	HP:0001251	Ataxia	0	MKS1 CL E G H	54903	7121	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	127
HP:0001251	HP:0001251	Ataxia	0	MKS1 CL E G H	54903	7121	OMIM:617121	JOUBERT SYNDROME 28; JBTS28		127
HP:0001251	HP:0001251	Ataxia	0	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040281 - Very frequent	127
HP:0001251	HP:0001251	Ataxia	0	MLC1 CL E G H	23209	17082	OMIM:604004	Megalencephalic leukoencephalopathy with subcortical cysts 1	.	112
HP:0001251	HP:0001251	Ataxia	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0001251	HP:0001251	Ataxia	0	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040283 - Occasional	101
HP:0001251	HP:0001251	Ataxia	0	MMADHC CL E G H	27249	25221	OMIM:277410	Methylmalonic aciduria and homocystinuria, Cbld type		50
HP:0001251	HP:0001251	Ataxia	0	MME CL E G H	4311	7154	OMIM:617018	SPINOCEREBELLAR ATAXIA 43; SCA43		18
HP:0001251	HP:0001251	Ataxia	0	MME CL E G H	4311	7154	ORPHA:497764	Spinocerebellar ataxia type 43		18
HP:0001251	HP:0001251	Ataxia	0	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z		8
HP:0001251	HP:0001251	Ataxia	0	MPDU1 CL E G H	9526	7207	OMIM:609180	Congenital disorder of glycosylation, type IF	.	32
HP:0001251	HP:0001251	Ataxia	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy		9
HP:0001251	HP:0001251	Ataxia	0	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy	.	56
HP:0001251	HP:0001251	Ataxia	0	MPZ CL E G H	4359	7225	ORPHA:3115	Roussy-Lévy syndrome		134
HP:0001251	HP:0001251	Ataxia	0	MPZ CL E G H	4359	7225	OMIM:180800	Roussy-Levy hereditary areflexic dystasia		134
HP:0001251	HP:0001251	Ataxia	0	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder	HP:0040281 - Very frequent	532
HP:0001251	HP:0001251	Ataxia	0	MRE11 CL E G H	4361	7230	OMIM:604391	Ataxia-Telangiectasia-Like disorder 1		532
HP:0001251	HP:0001251	Ataxia	0	MRPL12 CL E G H	6182	10378	OMIM:618951	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD45		11
HP:0001251	HP:0001251	Ataxia	0	MRPS22 CL E G H	56945	14508	ORPHA:243	46,XX gonadal dysgenesis	HP:0040284 - Very rare	25
HP:0001251	HP:0001251	Ataxia	0	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
HP:0001251	HP:0001251	Ataxia	0	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia	.
HP:0001251	HP:0001251	Ataxia	0	MTFMT CL E G H	123263	29666