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:0002066	HP:0002066	Gait ataxia	0	AASS CL E G H	10157	17366	ORPHA:3124	Saccharopinuria	HP:0040283 - Occasional	15
HP:0002066	HP:0002066	Gait 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:0002066	HP:0002066	Gait ataxia	0	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent	116
HP:0002066	HP:0002066	Gait ataxia	0	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency	.	118
HP:0002066	HP:0002066	Gait ataxia	0	AFG3L2 CL E G H	10939	315	OMIM:610246	Spinocerebellar ataxia 28	.	86
HP:0002066	HP:0002066	Gait ataxia	0	AFG3L2 CL E G H	10939	315	ORPHA:101109	Spinocerebellar ataxia type 28	HP:0040281 - Very frequent	86
HP:0002066	HP:0002066	Gait ataxia	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447757	Autosomal dominant spastic paraplegia type 9B		89
HP:0002066	HP:0002066	Gait ataxia	0	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant		89
HP:0002066	HP:0002066	Gait ataxia	0	ANO10 CL E G H	55129	25519	ORPHA:284289	Adult-onset autosomal recessive cerebellar ataxia		64
HP:0002066	HP:0002066	Gait ataxia	0	ANO10 CL E G H	55129	25519	OMIM:613728	Spinocerebellar ataxia, autosomal recessive 10	.	64
HP:0002066	HP:0002066	Gait ataxia	0	AP1S2 CL E G H	8905	560	OMIM:304340	Pettigrew syndrome	.	13
HP:0002066	HP:0002066	Gait ataxia	0	AP2M1 CL E G H	1173	564	OMIM:618587	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES; MRD60
HP:0002066	HP:0002066	Gait ataxia	0	APTX CL E G H	54840	15984	OMIM:208920	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	.	61
HP:0002066	HP:0002066	Gait ataxia	0	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay	.	3
HP:0002066	HP:0002066	Gait ataxia	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0002066	HP:0002066	Gait ataxia	0	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form		253
HP:0002066	HP:0002066	Gait ataxia	0	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form		253
HP:0002066	HP:0002066	Gait ataxia	0	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form	HP:0040282 - Frequent	253
HP:0002066	HP:0002066	Gait ataxia	0	ATAD3A CL E G H	55210	25567	ORPHA:496790	Ocular anomalies-axonal neuropathy-developmental delay syndrome	HP:0040283 - Occasional	5
HP:0002066	HP:0002066	Gait ataxia	0	ATCAY CL E G H	85300	779	ORPHA:94122	Cerebellar ataxia, Cayman type	HP:0040282 - Frequent	72
HP:0002066	HP:0002066	Gait ataxia	0	ATCAY CL E G H	85300	779	OMIM:601238	Cerebellar ataxia, Cayman type	.	72
HP:0002066	HP:0002066	Gait ataxia	0	ATN1 CL E G H	1822	3033	ORPHA:101	Dentatorubral pallidoluysian atrophy	HP:0040282 - Frequent	16
HP:0002066	HP:0002066	Gait ataxia	0	ATP13A2 CL E G H	23400	30213	ORPHA:513436	Autosomal recessive spastic paraplegia type 78		100
HP:0002066	HP:0002066	Gait ataxia	0	ATP13A2 CL E G H	23400	30213	OMIM:617225	SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78		100
HP:0002066	HP:0002066	Gait ataxia	0	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine		239
HP:0002066	HP:0002066	Gait ataxia	0	ATP1A2 CL E G H	477	800	OMIM:602481	Migraine, familial hemiplegic, 2		239
HP:0002066	HP:0002066	Gait ataxia	0	ATP1A3 CL E G H	478	801	OMIM:601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss	.	150
HP:0002066	HP:0002066	Gait ataxia	0	ATP1A3 CL E G H	478	801	ORPHA:71517	Rapid-onset dystonia-parkinsonism	HP:0040282 - Frequent	150
HP:0002066	HP:0002066	Gait ataxia	0	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent
HP:0002066	HP:0002066	Gait ataxia	0	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0002066	HP:0002066	Gait ataxia	0	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome
HP:0002066	HP:0002066	Gait ataxia	0	ATXN10 CL E G H	25814	10549	OMIM:603516	Spinocerebellar ataxia 10	.	9
HP:0002066	HP:0002066	Gait ataxia	0	ATXN10 CL E G H	25814	10549	ORPHA:98761	Spinocerebellar ataxia type 10	HP:0040281 - Very frequent	9
HP:0002066	HP:0002066	Gait ataxia	0	ATXN2 CL E G H	6311	10555	ORPHA:98756	Spinocerebellar ataxia type 2	HP:0040282 - Frequent	11
HP:0002066	HP:0002066	Gait ataxia	0	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1		14
HP:0002066	HP:0002066	Gait ataxia	0	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2		14
HP:0002066	HP:0002066	Gait ataxia	0	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3		14
HP:0002066	HP:0002066	Gait ataxia	0	ATXN8 CL E G H	724066	32925	ORPHA:98760	Spinocerebellar ataxia type 8	HP:0040282 - Frequent	1
HP:0002066	HP:0002066	Gait ataxia	0	ATXN8OS CL E G H	6315	10561	ORPHA:98760	Spinocerebellar ataxia type 8	HP:0040282 - Frequent	1
HP:0002066	HP:0002066	Gait ataxia	0	BEAN1 CL E G H	146227	24160	OMIM:117210	Spinocerebellar ataxia 31	.	1
HP:0002066	HP:0002066	Gait ataxia	0	BEAN1 CL E G H	146227	24160	ORPHA:217012	Spinocerebellar ataxia type 31	HP:0040281 - Very frequent	1
HP:0002066	HP:0002066	Gait ataxia	0	BRAT1 CL E G H	221927	21701	OMIM:618056	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures	.	20
HP:0002066	HP:0002066	Gait ataxia	0	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy	HP:0040283 - Occasional	105
HP:0002066	HP:0002066	Gait ataxia	0	C12ORF4 CL E G H	57102	1184	OMIM:618221	Mental retardation, autosomal recessive 66		2
HP:0002066	HP:0002066	Gait ataxia	0	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine		449
HP:0002066	HP:0002066	Gait ataxia	0	CACNA1A CL E G H	773	1388	ORPHA:98758	Spinocerebellar ataxia type 6	HP:0040281 - Very frequent	449
HP:0002066	HP:0002066	Gait ataxia	0	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42	HP:0040282 - Frequent	32
HP:0002066	HP:0002066	Gait ataxia	0	CACNA2D2 CL E G H	9254	1400	OMIM:618501	Cerebellar atrophy with seizures and variable developmental delay	.	48
HP:0002066	HP:0002066	Gait ataxia	0	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation		34
HP:0002066	HP:0002066	Gait ataxia	0	CAPN1 CL E G H	823	1476	ORPHA:488594	Autosomal recessive spastic paraplegia type 76	HP:0040282 - Frequent	4
HP:0002066	HP:0002066	Gait ataxia	0	CAPN1 CL E G H	823	1476	OMIM:616907	SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG76		4
HP:0002066	HP:0002066	Gait ataxia	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0002066	HP:0002066	Gait ataxia	0	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7	.	11
HP:0002066	HP:0002066	Gait ataxia	0	CCDC88C CL E G H	440193	19967	ORPHA:423275	Spinocerebellar ataxia type 40	HP:0040282 - Frequent	54
HP:0002066	HP:0002066	Gait ataxia	0	CDKL5 CL E G H	6792	11411	ORPHA:3095	Atypical Rett syndrome	HP:0040282 - Frequent	405
HP:0002066	HP:0002066	Gait ataxia	0	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40	.	16
HP:0002066	HP:0002066	Gait ataxia	0	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8		19
HP:0002066	HP:0002066	Gait ataxia	0	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040284 - Very rare	118
HP:0002066	HP:0002066	Gait ataxia	0	CLCN2 CL E G H	1181	2020	OMIM:615651	Leukoencephalopathy with ataxia	.	44
HP:0002066	HP:0002066	Gait ataxia	0	CLN8 CL E G H	2055	2079	ORPHA:1947	Progressive epilepsy-intellectual disability syndrome, Finnish type	HP:0040282 - Frequent	111
HP:0002066	HP:0002066	Gait ataxia	0	COA7 CL E G H	65260	25716	OMIM:618387	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3	.
HP:0002066	HP:0002066	Gait ataxia	0	COQ2 CL E G H	27235	25223	ORPHA:227510	Multiple system atrophy, cerebellar type	HP:0040282 - Frequent	54
HP:0002066	HP:0002066	Gait ataxia	0	COQ2 CL E G H	27235	25223	ORPHA:98933	Multiple system atrophy, parkinsonian type	HP:0040283 - Occasional	54
HP:0002066	HP:0002066	Gait ataxia	0	CP CL E G H	1356	2295	ORPHA:48818	Aceruloplasminemia	HP:0040282 - Frequent	115
HP:0002066	HP:0002066	Gait ataxia	0	CTBP1 CL E G H	1487	2494	OMIM:617915	Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome	.	2
HP:0002066	HP:0002066	Gait ataxia	0	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type		38
HP:0002066	HP:0002066	Gait ataxia	0	CWF19L1 CL E G H	55280	25613	ORPHA:453521	Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency	HP:0040282 - Frequent	9
HP:0002066	HP:0002066	Gait ataxia	0	CWF19L1 CL E G H	55280	25613	OMIM:616127	Spinocerebellar ataxia, autosomal recessive 17		9
HP:0002066	HP:0002066	Gait ataxia	0	DEAF1 CL E G H	10522	14677	ORPHA:468620	Intellectual disability-epilepsy-extrapyramidal syndrome	HP:0040282 - Frequent	33
HP:0002066	HP:0002066	Gait ataxia	0	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I	HP:0040282 - Frequent
HP:0002066	HP:0002066	Gait ataxia	0	DNAJC3 CL E G H	5611	9439	OMIM:616192	Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	.	3
HP:0002066	HP:0002066	Gait ataxia	0	DNAJC3 CL E G H	5611	9439	ORPHA:445062	Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome	HP:0040282 - Frequent	3
HP:0002066	HP:0002066	Gait ataxia	0	DNAJC6 CL E G H	9829	15469	ORPHA:391411	Atypical juvenile parkinsonism	HP:0040282 - Frequent	6
HP:0002066	HP:0002066	Gait ataxia	0	DOCK3 CL E G H	1795	2989	OMIM:618292	Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia	.	3
HP:0002066	HP:0002066	Gait ataxia	0	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0002066	HP:0002066	Gait ataxia	0	EEF2 CL E G H	1938	3214	OMIM:609306	Spinocerebellar ataxia 26	.	4
HP:0002066	HP:0002066	Gait ataxia	0	EEF2 CL E G H	1938	3214	ORPHA:101112	Spinocerebellar ataxia type 26		4
HP:0002066	HP:0002066	Gait ataxia	0	EIF2AK2 CL E G H	5610	9437	OMIM:618877	LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0002066	HP:0002066	Gait ataxia	0	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome	.	8
HP:0002066	HP:0002066	Gait ataxia	0	ELOVL4 CL E G H	6785	14415	OMIM:133190	Spinocerebellar ataxia 34	.	62
HP:0002066	HP:0002066	Gait ataxia	0	ELOVL5 CL E G H	60481	21308	OMIM:615957	Spinocerebellar ataxia 38	.	4
HP:0002066	HP:0002066	Gait ataxia	0	ELOVL5 CL E G H	60481	21308	ORPHA:423296	Spinocerebellar ataxia type 38	HP:0040281 - Very frequent	4
HP:0002066	HP:0002066	Gait ataxia	0	ERBB3 CL E G H	2065	3431	OMIM:243180	Visceral neuropathy, familial, autosomal recessive	.	12
HP:0002066	HP:0002066	Gait ataxia	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	106
HP:0002066	HP:0002066	Gait ataxia	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	54
HP:0002066	HP:0002066	Gait ataxia	0	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome	HP:0040282 - Frequent	36
HP:0002066	HP:0002066	Gait ataxia	0	FA2H CL E G H	79152	21197	ORPHA:329308	Fatty acid hydroxylase-associated neurodegeneration		76
HP:0002066	HP:0002066	Gait ataxia	0	FAT2 CL E G H	2196	3596	OMIM:617769	Spinocerebellar ataxia 45	.	2
HP:0002066	HP:0002066	Gait ataxia	0	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0002066	HP:0002066	Gait ataxia	0	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome	HP:0040283 - Occasional
HP:0002066	HP:0002066	Gait ataxia	0	FGF14 CL E G H	2259	3671	OMIM:193003	Nystagmus 4, congenital, autosomal dominant		47
HP:0002066	HP:0002066	Gait ataxia	0	FGF14 CL E G H	2259	3671	ORPHA:98764	Spinocerebellar ataxia type 27	HP:0040282 - Frequent	47
HP:0002066	HP:0002066	Gait ataxia	0	FLVCR1 CL E G H	28982	24682	ORPHA:88628	Posterior column ataxia-retinitis pigmentosa syndrome	HP:0040282 - Frequent	111
HP:0002066	HP:0002066	Gait ataxia	0	FMR1 CL E G H	2332	3775	OMIM:300623	Fragile X tremor/ataxia syndrome		30
HP:0002066	HP:0002066	Gait ataxia	0	FMR1 CL E G H	2332	3775	ORPHA:93256	Fragile X-associated tremor/ataxia syndrome	HP:0040281 - Very frequent	30
HP:0002066	HP:0002066	Gait ataxia	0	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia	HP:0040280 - Obligate	18
HP:0002066	HP:0002066	Gait ataxia	0	FXN CL E G H	2395	3951	OMIM:229300	Friedreich ataxia 1	.	18
HP:0002066	HP:0002066	Gait ataxia	0	GABBR2 CL E G H	9568	4507	ORPHA:3095	Atypical Rett syndrome	HP:0040282 - Frequent	5
HP:0002066	HP:0002066	Gait ataxia	0	GABRA1 CL E G H	2554	4075	ORPHA:33069	Dravet syndrome		134
HP:0002066	HP:0002066	Gait ataxia	0	GABRG2 CL E G H	2566	4087	ORPHA:33069	Dravet syndrome		139
HP:0002066	HP:0002066	Gait ataxia	0	GBA2 CL E G H	57704	18986	ORPHA:352641	Autosomal recessive cerebellar ataxia with late-onset spasticity	HP:0040282 - Frequent	30
HP:0002066	HP:0002066	Gait ataxia	0	GCH1 CL E G H	2643	4193	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040282 - Frequent	86
HP:0002066	HP:0002066	Gait ataxia	0	GCH1 CL E G H	2643	4193	OMIM:128230	Dystonia, DOPA-responsive, with or without hyperphenylalaninemia		86
HP:0002066	HP:0002066	Gait ataxia	0	GDAP2 CL E G H	54834	18010	OMIM:618369	Spinocerebellar ataxia, autosomal recessive 27	.
HP:0002066	HP:0002066	Gait ataxia	0	GJB1 CL E G H	2705	4283	ORPHA:1175	X-linked progressive cerebellar ataxia		107
HP:0002066	HP:0002066	Gait ataxia	0	GPAA1 CL E G H	8733	4446	OMIM:617810	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15
HP:0002066	HP:0002066	Gait ataxia	0	GPAA1 CL E G H	8733	4446	ORPHA:529665	Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome	HP:0040282 - Frequent
HP:0002066	HP:0002066	Gait ataxia	0	GRIA2 CL E G H	2891	4572	OMIM:618917	NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; NEDLIB		1
HP:0002066	HP:0002066	Gait ataxia	0	GRID2 CL E G H	2895	4576	OMIM:616204	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR18		18
HP:0002066	HP:0002066	Gait 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:0002066	HP:0002066	Gait ataxia	0	GRIN2A CL E G H	2903	4585	ORPHA:98818	Landau-Kleffner syndrome	HP:0040283 - Occasional	434
HP:0002066	HP:0002066	Gait ataxia	0	GRM1 CL E G H	2911	4593	ORPHA:324262	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency	HP:0040281 - Very frequent	8
HP:0002066	HP:0002066	Gait ataxia	0	GRM1 CL E G H	2911	4593	OMIM:617691	SPINOCEREBELLAR ATAXIA 44; SCA44		8
HP:0002066	HP:0002066	Gait ataxia	0	GRM1 CL E G H	2911	4593	OMIM:614831	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13		8
HP:0002066	HP:0002066	Gait ataxia	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	2
HP:0002066	HP:0002066	Gait ataxia	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0002066	HP:0002066	Gait ataxia	0	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome	.
HP:0002066	HP:0002066	Gait ataxia	0	HERC1 CL E G H	8925	4867	OMIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation	.	16
HP:0002066	HP:0002066	Gait ataxia	0	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome	HP:0040282 - Frequent	16
HP:0002066	HP:0002066	Gait ataxia	0	HEXB CL E G H	3074	4879	ORPHA:309169	Sandhoff disease, adult form		80
HP:0002066	HP:0002066	Gait ataxia	0	HLA-DQB1 CL E G H	3119	4944	OMIM:123400	Creutzfeldt-Jakob disease	.
HP:0002066	HP:0002066	Gait ataxia	0	HPDL CL E G H	84842	28242	OMIM:619027	SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE; SPG83
HP:0002066	HP:0002066	Gait ataxia	0	HSD17B4 CL E G H	3295	5213	OMIM:233400	Perrault syndrome 1	.	98
HP:0002066	HP:0002066	Gait ataxia	0	HTT CL E G H	3064	4851	OMIM:143100	Huntington disease	.	12
HP:0002066	HP:0002066	Gait ataxia	0	HTT CL E G H	3064	4851	ORPHA:248111	Juvenile Huntington disease	HP:0040282 - Frequent	12
HP:0002066	HP:0002066	Gait ataxia	0	IFRD1 CL E G H	3475	5456	ORPHA:98771	Spinocerebellar ataxia type 18	HP:0040281 - Very frequent	1
HP:0002066	HP:0002066	Gait ataxia	0	IMPDH2 CL E G H	3615	6053	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040282 - Frequent	1
HP:0002066	HP:0002066	Gait ataxia	0	IQSEC1 CL E G H	9922	29112	OMIM:618687	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES; IDDSSBA
HP:0002066	HP:0002066	Gait ataxia	0	ITPR1 CL E G H	3708	6180	OMIM:606658	Spinocerebellar ataxia 15	.	177
HP:0002066	HP:0002066	Gait ataxia	0	ITPR1 CL E G H	3708	6180	OMIM:117360	Spinocerebellar ataxia 29		177
HP:0002066	HP:0002066	Gait ataxia	0	ITPR1 CL E G H	3708	6180	ORPHA:98769	Spinocerebellar ataxia type 15/16	HP:0040282 - Frequent	177
HP:0002066	HP:0002066	Gait ataxia	0	ITPR1 CL E G H	3708	6180	ORPHA:208513	Spinocerebellar ataxia type 29	HP:0040281 - Very frequent	177
HP:0002066	HP:0002066	Gait ataxia	0	KCNC3 CL E G H	3748	6235	OMIM:605259	Spinocerebellar ataxia 13	.	17
HP:0002066	HP:0002066	Gait ataxia	0	KCNC3 CL E G H	3748	6235	ORPHA:98768	Spinocerebellar ataxia type 13	HP:0040282 - Frequent	17
HP:0002066	HP:0002066	Gait ataxia	0	KCND3 CL E G H	3752	6239	OMIM:607346	Spinocerebellar ataxia 19	.	35
HP:0002066	HP:0002066	Gait ataxia	0	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65		2
HP:0002066	HP:0002066	Gait ataxia	0	KIF1C CL E G H	10749	6317	ORPHA:397946	Autosomal spastic paraplegia type 58	HP:0040281 - Very frequent	38
HP:0002066	HP:0002066	Gait ataxia	0	KIF1C CL E G H	10749	6317	OMIM:611302	Spastic ataxia 2, autosomal recessive	.	38
HP:0002066	HP:0002066	Gait ataxia	0	LARS2 CL E G H	23395	17095	OMIM:615300	Perrault syndrome 4		54
HP:0002066	HP:0002066	Gait ataxia	0	LETM1 CL E G H	3954	6556	OMIM:620089			2
HP:0002066	HP:0002066	Gait ataxia	0	LITAF CL E G H	9516	16841	OMIM:601098	Charcot-Marie-Tooth disease, demyelinating, type 1C		74
HP:0002066	HP:0002066	Gait ataxia	0	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy	HP:0040282 - Frequent	44
HP:0002066	HP:0002066	Gait ataxia	0	LMNB2 CL E G H	84823	6638	OMIM:616540	Epilepsy, progressive myoclonic, 9	.	11
HP:0002066	HP:0002066	Gait ataxia	0	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome	.
HP:0002066	HP:0002066	Gait ataxia	0	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis	.	136
HP:0002066	HP:0002066	Gait ataxia	0	MARS2 CL E G H	92935	25133	ORPHA:314603	Autosomal recessive spastic ataxia with leukoencephalopathy	HP:0040282 - Frequent	25
HP:0002066	HP:0002066	Gait ataxia	0	MARS2 CL E G H	92935	25133	OMIM:611390	Spastic ataxia 3, autosomal recessive	.	25
HP:0002066	HP:0002066	Gait ataxia	0	MECP2 CL E G H	4204	6990	ORPHA:3095	Atypical Rett syndrome	HP:0040282 - Frequent	950
HP:0002066	HP:0002066	Gait ataxia	0	MECP2 CL E G H	4204	6990	OMIM:312750	Rett syndrome	.	950
HP:0002066	HP:0002066	Gait ataxia	0	MME CL E G H	4311	7154	OMIM:617018	SPINOCEREBELLAR ATAXIA 43; SCA43		18
HP:0002066	HP:0002066	Gait ataxia	0	MME CL E G H	4311	7154	ORPHA:497764	Spinocerebellar ataxia type 43	HP:0040282 - Frequent	18
HP:0002066	HP:0002066	Gait ataxia	0	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z		8
HP:0002066	HP:0002066	Gait ataxia	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	9
HP:0002066	HP:0002066	Gait ataxia	0	MPZ CL E G H	4359	7225	ORPHA:3115	Roussy-Lévy syndrome	HP:0040282 - Frequent	134
HP:0002066	HP:0002066	Gait ataxia	0	MPZ CL E G H	4359	7225	OMIM:180800	Roussy-Levy hereditary areflexic dystasia	.	134
HP:0002066	HP:0002066	Gait ataxia	0	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder	HP:0040282 - Frequent	532
HP:0002066	HP:0002066	Gait ataxia	0	MRE11 CL E G H	4361	7230	OMIM:604391	Ataxia-Telangiectasia-Like disorder 1	.	532
HP:0002066	HP:0002066	Gait ataxia	0	MTPAP CL E G H	55149	25532	ORPHA:254343	Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome		19
HP:0002066	HP:0002066	Gait ataxia	0	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040283 - Occasional	81
HP:0002066	HP:0002066	Gait ataxia	0	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0002066	HP:0002066	Gait ataxia	0	NARS1 CL E G H	4677	7643	OMIM:619092	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0002066	HP:0002066	Gait ataxia	0	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0002066	HP:0002066	Gait ataxia	0	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0002066	HP:0002066	Gait ataxia	0	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0002066	HP:0002066	Gait ataxia	0	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0002066	HP:0002066	Gait ataxia	0	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0002066	HP:0002066	Gait ataxia	0	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0002066	HP:0002066	Gait ataxia	0	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0002066	HP:0002066	Gait ataxia	0	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F	HP:0040282 - Frequent	118
HP:0002066	HP:0002066	Gait ataxia	0	NOP56 CL E G H	10528	15911	OMIM:614153	Spinocerebellar ataxia 36		9
HP:0002066	HP:0002066	Gait ataxia	0	NPC1 CL E G H	4864	7897	OMIM:257220	Niemann-pick disease, type C1		258
HP:0002066	HP:0002066	Gait ataxia	0	NR4A2 CL E G H	4929	7981	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040282 - Frequent	27
HP:0002066	HP:0002066	Gait ataxia	0	NTNG1 CL E G H	22854	23319	ORPHA:3095	Atypical Rett syndrome	HP:0040282 - Frequent	1
HP:0002066	HP:0002066	Gait ataxia	0	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent	7
HP:0002066	HP:0002066	Gait ataxia	0	NUS1 CL E G H	116150	21042	OMIM:617831	MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES; MRD55		1
HP:0002066	HP:0002066	Gait ataxia	0	OGDH CL E G H	4967	8124	OMIM:203740	Alpha-Ketoglutarate dehydrogenase deficiency
HP:0002066	HP:0002066	Gait ataxia	0	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance		55
HP:0002066	HP:0002066	Gait ataxia	0	PAK1 CL E G H	5058	8590	OMIM:618158	Intellectual developmental disorder with macrocephaly, seizures, and speech delay
HP:0002066	HP:0002066	Gait ataxia	0	PCDH19 CL E G H	57526	14270	ORPHA:33069	Dravet syndrome		225
HP:0002066	HP:0002066	Gait ataxia	0	PCNA CL E G H	5111	8729	ORPHA:438134	PCNA-related progressive neurodegenerative photosensitivity syndrome	HP:0040281 - Very frequent	1
HP:0002066	HP:0002066	Gait ataxia	0	PDP1 CL E G H	54704	9279	OMIM:608782	Pyruvate dehydrogenase phosphatase deficiency	.	52
HP:0002066	HP:0002066	Gait ataxia	0	PDYN CL E G H	5173	8820	OMIM:610245	Spinocerebellar ataxia 23	.	52
HP:0002066	HP:0002066	Gait ataxia	0	PDYN CL E G H	5173	8820	ORPHA:101108	Spinocerebellar ataxia type 23	HP:0040281 - Very frequent	52
HP:0002066	HP:0002066	Gait ataxia	0	PEX10 CL E G H	5192	8851	ORPHA:247815	Autosomal recessive ataxia due to PEX10 deficiency		75
HP:0002066	HP:0002066	Gait ataxia	0	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B		75
HP:0002066	HP:0002066	Gait ataxia	0	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B		59
HP:0002066	HP:0002066	Gait ataxia	0	PEX6 CL E G H	5190	8859	ORPHA:95433	Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome	HP:0040282 - Frequent	98
HP:0002066	HP:0002066	Gait ataxia	0	PIGG CL E G H	54872	25985	ORPHA:488635	Early-onset epilepsy-intellectual disability-brain anomalies syndrome	HP:0040282 - Frequent	7
HP:0002066	HP:0002066	Gait ataxia	0	PLA2G6 CL E G H	8398	9039	OMIM:610217	Neurodegeneration with brain iron accumulation 2B	.	133
HP:0002066	HP:0002066	Gait ataxia	0	PLD3 CL E G H	23646	17158	OMIM:617770	Spinocerebellar ataxia 46	.	2
HP:0002066	HP:0002066	Gait ataxia	0	PMP22 CL E G H	5376	9118	ORPHA:3115	Roussy-Lévy syndrome	HP:0040282 - Frequent	79
HP:0002066	HP:0002066	Gait ataxia	0	PMP22 CL E G H	5376	9118	OMIM:180800	Roussy-Levy hereditary areflexic dystasia	.	79
HP:0002066	HP:0002066	Gait ataxia	0	PMPCA CL E G H	23203	18667	ORPHA:1170	Autosomal recessive cerebelloparenchymal disorder type 3	HP:0040281 - Very frequent	7
HP:0002066	HP:0002066	Gait ataxia	0	PMPCA CL E G H	23203	18667	OMIM:213200	Spinocerebellar ataxia, autosomal recessive 2	.	7
HP:0002066	HP:0002066	Gait ataxia	0	PNPLA6 CL E G H	10908	16268	ORPHA:139480	Autosomal recessive spastic paraplegia type 39	HP:0040283 - Occasional	103
HP:0002066	HP:0002066	Gait ataxia	0	PNPLA6 CL E G H	10908	16268	OMIM:215470	Boucher-Neuhauser syndrome		103
HP:0002066	HP:0002066	Gait ataxia	0	PNPT1 CL E G H	87178	23166	ORPHA:101111	Spinocerebellar ataxia type 25	HP:0040282 - Frequent	60
HP:0002066	HP:0002066	Gait ataxia	0	PODXL CL E G H	5420	9171	ORPHA:391411	Atypical juvenile parkinsonism	HP:0040282 - Frequent	6
HP:0002066	HP:0002066	Gait ataxia	0	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	464
HP:0002066	HP:0002066	Gait ataxia	0	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1	.	464
HP:0002066	HP:0002066	Gait ataxia	0	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive	.	464
HP:0002066	HP:0002066	Gait ataxia	0	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		464
HP:0002066	HP:0002066	Gait ataxia	0	POLG CL E G H	5428	9179	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	HP:0040282 - Frequent	464
HP:0002066	HP:0002066	Gait ataxia	0	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	45
HP:0002066	HP:0002066	Gait ataxia	0	POLR3B CL E G H	55703	30348	OMIM:614381	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism		67
HP:0002066	HP:0002066	Gait ataxia	0	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome	HP:0040282 - Frequent	40
HP:0002066	HP:0002066	Gait ataxia	0	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2		2
HP:0002066	HP:0002066	Gait ataxia	0	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0002066	HP:0002066	Gait ataxia	0	PPP2R1A CL E G H	5518	9302	OMIM:616362	Mental retardation, autosomal dominant 36		13
HP:0002066	HP:0002066	Gait ataxia	0	PPP2R5D CL E G H	5528	9312	OMIM:616355	Mental retardation, autosomal dominant 35		10
HP:0002066	HP:0002066	Gait ataxia	0	PRDM13 CL E G H	59336	13998	OMIM:619761	CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM; CDIDHH		2
HP:0002066	HP:0002066	Gait ataxia	0	PRDX3 CL E G H	10935	9354	OMIM:619862
HP:0002066	HP:0002066	Gait ataxia	0	PRKCG CL E G H	5582	9402	OMIM:605361	Spinocerebellar ataxia 14	.	83
HP:0002066	HP:0002066	Gait ataxia	0	PRKCG CL E G H	5582	9402	ORPHA:98763	Spinocerebellar ataxia type 14	HP:0040281 - Very frequent	83
HP:0002066	HP:0002066	Gait ataxia	0	PRNP CL E G H	5621	9449	OMIM:123400	Creutzfeldt-Jakob disease	.	69
HP:0002066	HP:0002066	Gait ataxia	0	PRNP CL E G H	5621	9449	OMIM:137440	Gerstmann-Straussler disease	.	69
HP:0002066	HP:0002066	Gait ataxia	0	PRNP CL E G H	5621	9449	ORPHA:356	Gerstmann-Straussler-Scheinker syndrome	HP:0040281 - Very frequent	69
HP:0002066	HP:0002066	Gait ataxia	0	PRNP CL E G H	5621	9449	ORPHA:157941	Huntington disease-like 1	HP:0040282 - Frequent	69
HP:0002066	HP:0002066	Gait ataxia	0	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease	HP:0040282 - Frequent	69
HP:0002066	HP:0002066	Gait ataxia	0	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine		94
HP:0002066	HP:0002066	Gait ataxia	0	PRX CL E G H	57716	13797	OMIM:614895	Charcot-Marie-Tooth disease, demyelinating, type 4F		170
HP:0002066	HP:0002066	Gait ataxia	0	PSAP CL E G H	5660	9498	OMIM:249900	Metachromatic leukodystrophy due to saposin B deficiency	.	81
HP:0002066	HP:0002066	Gait ataxia	0	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form		81
HP:0002066	HP:0002066	Gait ataxia	0	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form		81
HP:0002066	HP:0002066	Gait ataxia	0	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form	HP:0040282 - Frequent	81
HP:0002066	HP:0002066	Gait ataxia	0	RAB11B CL E G H	9230	9761	OMIM:617807	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter	.
HP:0002066	HP:0002066	Gait ataxia	0	RFC1 CL E G H	5981	9969	ORPHA:504476	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	HP:0040282 - Frequent
HP:0002066	HP:0002066	Gait ataxia	0	RFC1 CL E G H	5981	9969	OMIM:614575	Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome	.
HP:0002066	HP:0002066	Gait ataxia	0	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040284 - Very rare	38
HP:0002066	HP:0002066	Gait ataxia	0	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040284 - Very rare	26
HP:0002066	HP:0002066	Gait ataxia	0	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040284 - Very rare	34
HP:0002066	HP:0002066	Gait ataxia	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0002066	HP:0002066	Gait ataxia	0	RNU12 CL E G H	267010	19380	ORPHA:512260	Congenital cerebellar ataxia due to RNU12 mutation	HP:0040282 - Frequent
HP:0002066	HP:0002066	Gait ataxia	0	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0002066	HP:0002066	Gait ataxia	0	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	125
HP:0002066	HP:0002066	Gait ataxia	0	RRM2B CL E G H	50484	17296	OMIM:612075	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)	.	125
HP:0002066	HP:0002066	Gait ataxia	0	RRM2B CL E G H	50484	17296	OMIM:613077	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5	HP:0040283 - Occasional	125
HP:0002066	HP:0002066	Gait ataxia	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:0002066	HP:0002066	Gait ataxia	0	RUBCN CL E G H	9711	28991	OMIM:615705	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15		9
HP:0002066	HP:0002066	Gait ataxia	0	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay	HP:0040283 - Occasional	309
HP:0002066	HP:0002066	Gait ataxia	0	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type		309
HP:0002066	HP:0002066	Gait ataxia	0	SCARB2 CL E G H	950	1665	OMIM:254900	Epilepsy, progressive myoclonic, 4, with or without renal failure	.	77
HP:0002066	HP:0002066	Gait ataxia	0	SCN1A CL E G H	6323	10585	ORPHA:33069	Dravet syndrome		1053
HP:0002066	HP:0002066	Gait ataxia	0	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine		1053
HP:0002066	HP:0002066	Gait ataxia	0	SCN1B CL E G H	6324	10586	ORPHA:33069	Dravet syndrome		126
HP:0002066	HP:0002066	Gait ataxia	0	SCN2A CL E G H	6326	10588	ORPHA:33069	Dravet syndrome		427
HP:0002066	HP:0002066	Gait ataxia	0	SCN8A CL E G H	6334	10596	OMIM:614306	Cognitive impairment with or without cerebellar ataxia		357
HP:0002066	HP:0002066	Gait ataxia	0	SCN9A CL E G H	6335	10597	ORPHA:33069	Dravet syndrome		318
HP:0002066	HP:0002066	Gait ataxia	0	SCYL1 CL E G H	57410	14372	ORPHA:466794	Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome	HP:0040282 - Frequent	5
HP:0002066	HP:0002066	Gait ataxia	0	SCYL1 CL E G H	57410	14372	OMIM:616719	Spinocerebellar ataxia, autosomal recessive 21	.	5
HP:0002066	HP:0002066	Gait ataxia	0	SDHA CL E G H	6389	10680	OMIM:619259	NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA		304
HP:0002066	HP:0002066	Gait ataxia	0	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1		162
HP:0002066	HP:0002066	Gait ataxia	0	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C	HP:0040282 - Frequent	493
HP:0002066	HP:0002066	Gait ataxia	0	SIL1 CL E G H	64374	24624	OMIM:248800	Marinesco-Sjogren syndrome	.	67
HP:0002066	HP:0002066	Gait ataxia	0	SLC19A3 CL E G H	80704	16266	OMIM:607483	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)		110
HP:0002066	HP:0002066	Gait ataxia	0	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	68
HP:0002066	HP:0002066	Gait ataxia	0	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB		14
HP:0002066	HP:0002066	Gait ataxia	0	SLC9A1 CL E G H	6548	11071	OMIM:616291	Lichtenstein-Knorr syndrome	.	2
HP:0002066	HP:0002066	Gait ataxia	0	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome	HP:0040282 - Frequent	93
HP:0002066	HP:0002066	Gait ataxia	0	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0002066	HP:0002066	Gait ataxia	0	SMC1A CL E G H	8243	11111	ORPHA:3095	Atypical Rett syndrome	HP:0040282 - Frequent	135
HP:0002066	HP:0002066	Gait ataxia	0	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome		37
HP:0002066	HP:0002066	Gait ataxia	0	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive	.	171
HP:0002066	HP:0002066	Gait ataxia	0	SPTBN2 CL E G H	6712	11276	ORPHA:352403	Spectrin-associated autosomal recessive cerebellar ataxia		126
HP:0002066	HP:0002066	Gait ataxia	0	SPTBN2 CL E G H	6712	11276	OMIM:600224	Spinocerebellar ataxia 5	.	126
HP:0002066	HP:0002066	Gait ataxia	0	SPTBN2 CL E G H	6712	11276	OMIM:615386	Spinocerebellar ataxia, autosomal recessive 14	.	126
HP:0002066	HP:0002066	Gait ataxia	0	SQSTM1 CL E G H	8878	11280	OMIM:617145	Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset	.	62
HP:0002066	HP:0002066	Gait ataxia	0	STUB1 CL E G H	10273	11427	OMIM:618093	SPINOCEREBELLAR ATAXIA 48; SCA48		14
HP:0002066	HP:0002066	Gait ataxia	0	SYNE1 CL E G H	23345	17089	OMIM:610743	Spinocerebellar ataxia, autosomal recessive 8	.	1129
HP:0002066	HP:0002066	Gait ataxia	0	SYNJ1 CL E G H	8867	11503	ORPHA:391411	Atypical juvenile parkinsonism	HP:0040282 - Frequent	9
HP:0002066	HP:0002066	Gait ataxia	0	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration	.	12
HP:0002066	HP:0002066	Gait ataxia	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0002066	HP:0002066	Gait ataxia	0	TBC1D24 CL E G H	57465	29203	OMIM:605021	Myoclonic epilepsy, familial infantile		271
HP:0002066	HP:0002066	Gait ataxia	0	TBC1D2B CL E G H	23102	29183	OMIM:619323	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH; NEDSGO
HP:0002066	HP:0002066	Gait ataxia	0	TBP CL E G H	6908	11588	OMIM:607136	Spinocerebellar ataxia 17	.	7
HP:0002066	HP:0002066	Gait ataxia	0	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome	.	241
HP:0002066	HP:0002066	Gait ataxia	0	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome	HP:0040282 - Frequent	241
HP:0002066	HP:0002066	Gait ataxia	0	TECPR2 CL E G H	9895	19957	ORPHA:320385	Hereditary sensory and autonomic neuropathy due to TECPR2 mutation	HP:0040282 - Frequent	39
HP:0002066	HP:0002066	Gait ataxia	0	TECPR2 CL E G H	9895	19957	OMIM:615031	Spastic paraplegia 49, autosomal recessive	.	39
HP:0002066	HP:0002066	Gait ataxia	0	TGM6 CL E G H	343641	16255	ORPHA:276193	Spinocerebellar ataxia type 35	HP:0040282 - Frequent	58
HP:0002066	HP:0002066	Gait ataxia	0	TH CL E G H	7054	11782	ORPHA:101150	Autosomal recessive dopa-responsive dystonia	HP:0040282 - Frequent	80
HP:0002066	HP:0002066	Gait ataxia	0	TH CL E G H	7054	11782	OMIM:605407	Segawa syndrome, autosomal recessive	.	80
HP:0002066	HP:0002066	Gait ataxia	0	THG1L CL E G H	54974	26053	OMIM:618800	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28
HP:0002066	HP:0002066	Gait ataxia	0	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16	.
HP:0002066	HP:0002066	Gait ataxia	0	TMEM240 CL E G H	339453	25186	OMIM:607454	Spinocerebellar ataxia 21		9
HP:0002066	HP:0002066	Gait ataxia	0	TMEM240 CL E G H	339453	25186	ORPHA:98773	Spinocerebellar ataxia type 21	HP:0040281 - Very frequent	9
HP:0002066	HP:0002066	Gait ataxia	0	TPK1 CL E G H	27010	17358	OMIM:614458	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)		21
HP:0002066	HP:0002066	Gait ataxia	0	TPP1 CL E G H	1200	2073	ORPHA:284324	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia		203
HP:0002066	HP:0002066	Gait ataxia	0	TPP1 CL E G H	1200	2073	OMIM:609270	Spinocerebellar ataxia, autosomal recessive 7	.	203
HP:0002066	HP:0002066	Gait ataxia	0	TRAPPC6B CL E G H	122553	23066	OMIM:617862	Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
HP:0002066	HP:0002066	Gait ataxia	0	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	HP:0040283 - Occasional	8
HP:0002066	HP:0002066	Gait ataxia	0	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0002066	HP:0002066	Gait ataxia	0	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0002066	HP:0002066	Gait ataxia	0	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0002066	HP:0002066	Gait ataxia	0	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0002066	HP:0002066	Gait ataxia	0	TRPC3 CL E G H	7222	12335	OMIM:616410	Spinocerebellar ataxia 41		1
HP:0002066	HP:0002066	Gait ataxia	0	TRPC3 CL E G H	7222	12335	ORPHA:458798	Spinocerebellar ataxia type 41	HP:0040282 - Frequent	1
HP:0002066	HP:0002066	Gait ataxia	0	TSPOAP1 CL E G H	9256	16831	ORPHA:101150	Autosomal recessive dopa-responsive dystonia	HP:0040282 - Frequent	2
HP:0002066	HP:0002066	Gait ataxia	0	TUBB4A CL E G H	10382	20774	OMIM:128101	Dystonia 4, torsion, autosomal dominant	.	66
HP:0002066	HP:0002066	Gait ataxia	0	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	113
HP:0002066	HP:0002066	Gait ataxia	0	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		113
HP:0002066	HP:0002066	Gait ataxia	0	TWNK CL E G H	56652	1160	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	HP:0040282 - Frequent	113
HP:0002066	HP:0002066	Gait ataxia	0	UBA5 CL E G H	79876	23230	OMIM:617133	Spinocerebellar ataxia, autosomal recessive 24	.	13
HP:0002066	HP:0002066	Gait ataxia	0	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome		278
HP:0002066	HP:0002066	Gait ataxia	0	UBTF CL E G H	7343	12511	ORPHA:500180	Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder	HP:0040282 - Frequent	1
HP:0002066	HP:0002066	Gait ataxia	0	UROC1 CL E G H	131669	26444	OMIM:276880	Urocanase deficiency		8
HP:0002066	HP:0002066	Gait ataxia	0	UROC1 CL E G H	131669	26444	ORPHA:210128	Urocanic aciduria	HP:0040281 - Very frequent	8
HP:0002066	HP:0002066	Gait ataxia	0	VLDLR CL E G H	7436	12698	OMIM:224050	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1	.	111
HP:0002066	HP:0002066	Gait ataxia	0	VPS13D CL E G H	55187	23595	ORPHA:95434	Autosomal recessive cerebellar ataxia-movement disorder syndrome	HP:0040281 - Very frequent
HP:0002066	HP:0002066	Gait ataxia	0	VPS13D CL E G H	55187	23595	OMIM:607317	Spinocerebellar ataxia, autosomal recessive 4	.
HP:0002066	HP:0002066	Gait ataxia	0	VPS41 CL E G H	27072	12713	ORPHA:95434	Autosomal recessive cerebellar ataxia-movement disorder syndrome	HP:0040281 - Very frequent
HP:0002066	HP:0002066	Gait ataxia	0	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0002066	HP:0002066	Gait ataxia	0	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome	HP:0040283 - Occasional	8
HP:0002066	HP:0002066	Gait ataxia	0	WWOX CL E G H	51741	12799	ORPHA:284282	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency	HP:0040281 - Very frequent	149
HP:0002066	HP:0002066	Gait ataxia	0	WWOX CL E G H	51741	12799	OMIM:614322	Spinocerebellar ataxia, autosomal recessive 12	.	149
HP:0002066	HP:0002066	Gait ataxia	0	XRCC1 CL E G H	7515	12828	OMIM:617633	Spinocerebellar ataxia, autosomal recessive 26		4
HP:0002066	HP:0012651	Abasia	1	CL E G H
HP:0002066	HP:0007240	Progressive gait ataxia	1	ALDH18A1 CL E G H	5832	9722	ORPHA:447757	Autosomal dominant spastic paraplegia type 9B	HP:0040282 - Frequent	89
HP:0002066	HP:0007240	Progressive gait ataxia	1	ANO10 CL E G H	55129	25519	ORPHA:284289	Adult-onset autosomal recessive cerebellar ataxia	HP:0040282 - Frequent	64
HP:0002066	HP:0007240	Progressive gait ataxia	1	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040283 - Occasional	253
HP:0002066	HP:0007240	Progressive gait ataxia	1	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040283 - Occasional	253
HP:0002066	HP:0007240	Progressive gait ataxia	1	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form	HP:0040282 - Frequent	253
HP:0002066	HP:0007240	Progressive gait ataxia	1	ATP13A2 CL E G H	23400	30213	ORPHA:513436	Autosomal recessive spastic paraplegia type 78	HP:0040281 - Very frequent	100
HP:0002066	HP:0007240	Progressive gait ataxia	1	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent	239
HP:0002066	HP:0007240	Progressive gait ataxia	1	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome	HP:0040282 - Frequent
HP:0002066	HP:0007240	Progressive gait ataxia	1	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1	HP:0040282 - Frequent	14
HP:0002066	HP:0007240	Progressive gait ataxia	1	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2	HP:0040282 - Frequent	14
HP:0002066	HP:0007240	Progressive gait ataxia	1	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3	HP:0040282 - Frequent	14
HP:0002066	HP:0007240	Progressive gait ataxia	1	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent	449
HP:0002066	HP:0007240	Progressive gait ataxia	1	EEF2 CL E G H	1938	3214	ORPHA:101112	Spinocerebellar ataxia type 26	HP:0040281 - Very frequent	4
HP:0002066	HP:0007240	Progressive gait ataxia	1	FA2H CL E G H	79152	21197	ORPHA:329308	Fatty acid hydroxylase-associated neurodegeneration	HP:0040281 - Very frequent	76
HP:0002066	HP:0007240	Progressive gait ataxia	1	GABRA1 CL E G H	2554	4075	ORPHA:33069	Dravet syndrome	HP:0040281 - Very frequent	134
HP:0002066	HP:0007240	Progressive gait ataxia	1	GABRG2 CL E G H	2566	4087	ORPHA:33069	Dravet syndrome	HP:0040281 - Very frequent	139
HP:0002066	HP:0007240	Progressive gait ataxia	1	GJB1 CL E G H	2705	4283	ORPHA:1175	X-linked progressive cerebellar ataxia	HP:0040282 - Frequent	107
HP:0002066	HP:0007240	Progressive gait ataxia	1	MTPAP CL E G H	55149	25532	ORPHA:254343	Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome	HP:0040282 - Frequent	19
HP:0002066	HP:0007240	Progressive gait ataxia	1	PCDH19 CL E G H	57526	14270	ORPHA:33069	Dravet syndrome	HP:0040281 - Very frequent	225
HP:0002066	HP:0007240	Progressive gait ataxia	1	PEX10 CL E G H	5192	8851	ORPHA:247815	Autosomal recessive ataxia due to PEX10 deficiency	HP:0040282 - Frequent	75
HP:0002066	HP:0007240	Progressive gait ataxia	1	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	.	464
HP:0002066	HP:0007240	Progressive gait ataxia	1	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent	94
HP:0002066	HP:0007240	Progressive gait ataxia	1	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040283 - Occasional	81
HP:0002066	HP:0007240	Progressive gait ataxia	1	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040283 - Occasional	81
HP:0002066	HP:0007240	Progressive gait ataxia	1	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form	HP:0040282 - Frequent	81
HP:0002066	HP:0007240	Progressive gait ataxia	1	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type	.	309
HP:0002066	HP:0007240	Progressive gait ataxia	1	SCN1A CL E G H	6323	10585	ORPHA:33069	Dravet syndrome	HP:0040281 - Very frequent	1053
HP:0002066	HP:0007240	Progressive gait ataxia	1	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent	1053
HP:0002066	HP:0007240	Progressive gait ataxia	1	SCN1B CL E G H	6324	10586	ORPHA:33069	Dravet syndrome	HP:0040281 - Very frequent	126
HP:0002066	HP:0007240	Progressive gait ataxia	1	SCN2A CL E G H	6326	10588	ORPHA:33069	Dravet syndrome	HP:0040281 - Very frequent	427
HP:0002066	HP:0007240	Progressive gait ataxia	1	SCN9A CL E G H	6335	10597	ORPHA:33069	Dravet syndrome	HP:0040281 - Very frequent	318
HP:0002066	HP:0007240	Progressive gait ataxia	1	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1	.	162
HP:0002066	HP:0007240	Progressive gait ataxia	1	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome		37
HP:0002066	HP:0007240	Progressive gait ataxia	1	SPTBN2 CL E G H	6712	11276	ORPHA:352403	Spectrin-associated autosomal recessive cerebellar ataxia	HP:0040282 - Frequent	126
HP:0002066	HP:0007240	Progressive gait ataxia	1	TPP1 CL E G H	1200	2073	ORPHA:284324	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia	HP:0040282 - Frequent	203
HP:0002066	HP:0007240	Progressive gait ataxia	1	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	.	113
HP:0002066	HP:0007240	Progressive gait ataxia	1	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome		278