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:0002305	HP:0002305	Athetosis	0	ABCC8 CL E G H	6833	59	OMIM:618857	DIABETES MELLITUS, PERMANENT NEONATAL, 3; PNDM3		245
HP:0002305	HP:0002305	Athetosis	0	ABHD16A CL E G H	7920	13921	OMIM:619735	SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86
HP:0002305	HP:0002305	Athetosis	0	ACO2 CL E G H	50	118	OMIM:614559	INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD		60
HP:0002305	HP:0002305	Athetosis	0	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis		116
HP:0002305	HP:0002305	Athetosis	0	ADCY5 CL E G H	111	236	OMIM:606703	Dyskinesia, familial, with facial myokymia		25
HP:0002305	HP:0002305	Athetosis	0	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA	.	89
HP:0002305	HP:0002305	Athetosis	0	AP1S2 CL E G H	8905	560	OMIM:304340	Pettigrew syndrome		13
HP:0002305	HP:0002305	Athetosis	0	ARX CL E G H	170302	18060	OMIM:308350	Developmental and epileptic encephalopathy 1		166
HP:0002305	HP:0002305	Athetosis	0	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy		166
HP:0002305	HP:0002305	Athetosis	0	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31		1
HP:0002305	HP:0002305	Athetosis	0	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA		3267
HP:0002305	HP:0002305	Athetosis	0	ATN1 CL E G H	1822	3033	ORPHA:101	Dentatorubral pallidoluysian atrophy		16
HP:0002305	HP:0002305	Athetosis	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:0002305	HP:0002305	Athetosis	0	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood		239
HP:0002305	HP:0002305	Athetosis	0	ATP1A2 CL E G H	477	800	OMIM:104290	Alternating hemiplegia of childhood 1		239
HP:0002305	HP:0002305	Athetosis	0	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood		150
HP:0002305	HP:0002305	Athetosis	0	ATP1A3 CL E G H	478	801	OMIM:614820	Alternating hemiplegia of childhood 2		150
HP:0002305	HP:0002305	Athetosis	0	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis
HP:0002305	HP:0002305	Athetosis	0	AUH CL E G H	549	890	OMIM:250950	3-methylglutaconic aciduria, type I		49
HP:0002305	HP:0002305	Athetosis	0	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood		449
HP:0002305	HP:0002305	Athetosis	0	CACNA1A CL E G H	773	1388	OMIM:617106	Epileptic encephalopathy, early infantile, 42	.	449
HP:0002305	HP:0002305	Athetosis	0	CACNA1B CL E G H	774	1389	OMIM:618497	Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements		5
HP:0002305	HP:0002305	Athetosis	0	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities	HP:0040283 - Occasional	51
HP:0002305	HP:0002305	Athetosis	0	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome	HP:0040282 - Frequent	51
HP:0002305	HP:0002305	Athetosis	0	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy		118
HP:0002305	HP:0002305	Athetosis	0	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy		405
HP:0002305	HP:0002305	Athetosis	0	CERS1 CL E G H	10715	14253	OMIM:616230	Epilepsy, progressive myoclonic, 8		1
HP:0002305	HP:0002305	Athetosis	0	CHKA CL E G H	1119	1937	OMIM:620023
HP:0002305	HP:0002305	Athetosis	0	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7		38
HP:0002305	HP:0002305	Athetosis	0	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia		38
HP:0002305	HP:0002305	Athetosis	0	COX20 CL E G H	116228	26970	OMIM:619054	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11		25
HP:0002305	HP:0002305	Athetosis	0	CUX2 CL E G H	23316	19347	OMIM:618141	Epileptic encephalopathy, early infantile, 67	.
HP:0002305	HP:0002305	Athetosis	0	CYB5A CL E G H	1528	2570	ORPHA:621	Hereditary methemoglobinemia	HP:0040283 - Occasional	2
HP:0002305	HP:0002305	Athetosis	0	CYB5R3 CL E G H	1727	2873	ORPHA:621	Hereditary methemoglobinemia	HP:0040283 - Occasional	24
HP:0002305	HP:0002305	Athetosis	0	DCAF17 CL E G H	80067	25784	OMIM:241080	Woodhouse-Sakati syndrome		87
HP:0002305	HP:0002305	Athetosis	0	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome		87
HP:0002305	HP:0002305	Athetosis	0	DDC CL E G H	1644	2719	OMIM:608643	Aromatic L-amino acid decarboxylase deficiency		43
HP:0002305	HP:0002305	Athetosis	0	DLAT CL E G H	1737	2896	OMIM:245348	Pyruvate dehydrogenase E2 deficiency		82
HP:0002305	HP:0002305	Athetosis	0	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy		3
HP:0002305	HP:0002305	Athetosis	0	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1		94
HP:0002305	HP:0002305	Athetosis	0	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0002305	HP:0002305	Athetosis	0	EIF2AK2 CL E G H	5610	9437	OMIM:618877	LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0002305	HP:0002305	Athetosis	0	ELP2 CL E G H	55250	18248	OMIM:617270	Mental retardation, autosomal recessive 58		6
HP:0002305	HP:0002305	Athetosis	0	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15	.
HP:0002305	HP:0002305	Athetosis	0	ERCC2 CL E G H	2068	3434	OMIM:278730	Xeroderma pigmentosum, complementation group D		106
HP:0002305	HP:0002305	Athetosis	0	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome		199
HP:0002305	HP:0002305	Athetosis	0	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)		384
HP:0002305	HP:0002305	Athetosis	0	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0002305	HP:0002305	Athetosis	0	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant	.	177
HP:0002305	HP:0002305	Athetosis	0	FOXRED1 CL E G H	55572	26927	OMIM:618241	Mitochondrial complex I deficiency, nuclear type 19	.	61
HP:0002305	HP:0002305	Athetosis	0	FRRS1L CL E G H	23732	1362	OMIM:616981	Epileptic encephalopathy, early infantile, 37		4
HP:0002305	HP:0002305	Athetosis	0	FTL CL E G H	2512	3999	OMIM:606159	Neurodegeneration with brain iron accumulation 3		33
HP:0002305	HP:0002305	Athetosis	0	GAMT CL E G H	2593	4136	ORPHA:382	Guanidinoacetate methyltransferase deficiency	HP:0040283 - Occasional	91
HP:0002305	HP:0002305	Athetosis	0	GCDH CL E G H	2639	4189	OMIM:231670	Glutaric acidemia I		115
HP:0002305	HP:0002305	Athetosis	0	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency	HP:0040282 - Frequent	115
HP:0002305	HP:0002305	Athetosis	0	GCH1 CL E G H	2643	4193	OMIM:233910	Hyperphenylalaninemia, BH4-deficient, B		86
HP:0002305	HP:0002305	Athetosis	0	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2		37
HP:0002305	HP:0002305	Athetosis	0	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy		36
HP:0002305	HP:0002305	Athetosis	0	GNAO1 CL E G H	2775	4389	OMIM:615473	Epileptic encephalopathy, early infantile, 17	HP:0040283 - Occasional	36
HP:0002305	HP:0002305	Athetosis	0	GNAO1 CL E G H	2775	4389	OMIM:617493	Neurodevelopmental disorder with involuntary movements	.	36
HP:0002305	HP:0002305	Athetosis	0	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A		101
HP:0002305	HP:0002305	Athetosis	0	GON7 CL E G H	84520	20356	OMIM:619603	GALLOWAY-MOWAT SYNDROME 9; GAMOS9
HP:0002305	HP:0002305	Athetosis	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:0002305	HP:0002305	Athetosis	0	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy		108
HP:0002305	HP:0002305	Athetosis	0	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy		5
HP:0002305	HP:0002305	Athetosis	0	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0002305	HP:0002305	Athetosis	0	GUF1 CL E G H	60558	25799	OMIM:617065	Epileptic encephalopathy, early infantile, 40		2
HP:0002305	HP:0002305	Athetosis	0	HCFC1 CL E G H	3054	4839	OMIM:309541	Methylmalonic acidemia and homocysteinemia, Cblx type	HP:0040283 - Occasional	100
HP:0002305	HP:0002305	Athetosis	0	HPRT1 CL E G H	3251	5157	OMIM:300322	Lesch-Nyhan syndrome		76
HP:0002305	HP:0002305	Athetosis	0	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type		19
HP:0002305	HP:0002305	Athetosis	0	HSD17B10 CL E G H	3028	4800	OMIM:300438	HSD10 mitochondrial disease		19
HP:0002305	HP:0002305	Athetosis	0	HSPD1 CL E G H	3329	5261	OMIM:612233	Leukodystrophy, hypomyelinating, 4		46
HP:0002305	HP:0002305	Athetosis	0	IREB2 CL E G H	3658	6115	OMIM:618451	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
HP:0002305	HP:0002305	Athetosis	0	IRF2BPL CL E G H	64207	14282	OMIM:618088	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
HP:0002305	HP:0002305	Athetosis	0	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy		145
HP:0002305	HP:0002305	Athetosis	0	KCNA1 CL E G H	3736	6218	ORPHA:37612	Episodic ataxia type 1		145
HP:0002305	HP:0002305	Athetosis	0	KCNA1 CL E G H	3736	6218	ORPHA:98809	Paroxysmal kinesigenic dyskinesia	HP:0040281 - Very frequent	145
HP:0002305	HP:0002305	Athetosis	0	KIF5A CL E G H	3798	6323	OMIM:617235	Myoclonus, intractable, neonatal	.	93
HP:0002305	HP:0002305	Athetosis	0	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13		950
HP:0002305	HP:0002305	Athetosis	0	MECR CL E G H	51102	19691	OMIM:617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities		6
HP:0002305	HP:0002305	Athetosis	0	MED23 CL E G H	9439	2372	OMIM:614249	Mental retardation, autosomal recessive 18		25
HP:0002305	HP:0002305	Athetosis	0	MICOS13 CL E G H	125988	33702	ORPHA:67047	3-methylglutaconic aciduria type 3
HP:0002305	HP:0002305	Athetosis	0	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs		14
HP:0002305	HP:0002305	Athetosis	0	MMUT CL E G H	4594	7526	ORPHA:79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-
HP:0002305	HP:0002305	Athetosis	0	MMUT CL E G H	4594	7526	ORPHA:289916	Vitamin B12-unresponsive methylmalonic acidemia type mut0
HP:0002305	HP:0002305	Athetosis	0	MRPS34 CL E G H	65993	16618	OMIM:617664	Combined oxidative phosphorylation deficiency 32		1
HP:0002305	HP:0002305	Athetosis	0	NADK2 CL E G H	133686	26404	OMIM:616034	2,4-Dienoyl-Coa reductase deficiency		14
HP:0002305	HP:0002305	Athetosis	0	NADK2 CL E G H	133686	26404	ORPHA:431361	Progressive encephalopathy with leukodystrophy due to DECR deficiency		14
HP:0002305	HP:0002305	Athetosis	0	NDE1 CL E G H	54820	17619	OMIM:605013	MICROHYDRANENCEPHALY	.	96
HP:0002305	HP:0002305	Athetosis	0	NDUFA1 CL E G H	4694	7683	OMIM:301020	Mitochondrial complex I deficiency, nuclear type 12		7
HP:0002305	HP:0002305	Athetosis	0	NDUFA13 CL E G H	51079	17194	OMIM:618249	Mitochondrial complex I deficiency, nuclear type 28		3
HP:0002305	HP:0002305	Athetosis	0	NDUFA9 CL E G H	4704	7693	OMIM:618247	Mitochondrial complex I deficiency, nuclear type 26		27
HP:0002305	HP:0002305	Athetosis	0	NDUFAF5 CL E G H	79133	15899	OMIM:618238	Mitochondrial complex I deficiency, nuclear type 16		34
HP:0002305	HP:0002305	Athetosis	0	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy
HP:0002305	HP:0002305	Athetosis	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040283 - Occasional	32
HP:0002305	HP:0002305	Athetosis	0	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0002305	HP:0002305	Athetosis	0	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome		51
HP:0002305	HP:0002305	Athetosis	0	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress		51
HP:0002305	HP:0002305	Athetosis	0	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis		7
HP:0002305	HP:0002305	Athetosis	0	NUP62 CL E G H	23636	8066	OMIM:271930	Striatonigral degeneration, infantile		7
HP:0002305	HP:0002305	Athetosis	0	OPA3 CL E G H	80207	8142	ORPHA:67047	3-methylglutaconic aciduria type 3		163
HP:0002305	HP:0002305	Athetosis	0	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1		55
HP:0002305	HP:0002305	Athetosis	0	PC CL E G H	5091	8636	OMIM:266150	Pyruvate carboxylase deficiency		118
HP:0002305	HP:0002305	Athetosis	0	PDE2A CL E G H	5138	8777	ORPHA:31709	Infantile convulsions and choreoathetosis	HP:0040282 - Frequent
HP:0002305	HP:0002305	Athetosis	0	PDGFB CL E G H	5155	8800	OMIM:213600	Basal ganglia calcification, idiopathic, 1	.	9
HP:0002305	HP:0002305	Athetosis	0	PDGFB CL E G H	5155	8800	OMIM:615483	Basal ganglia calcification, idiopathic, 5	.	9
HP:0002305	HP:0002305	Athetosis	0	PDGFRB CL E G H	5159	8804	OMIM:213600	Basal ganglia calcification, idiopathic, 1	.	28
HP:0002305	HP:0002305	Athetosis	0	PDHA1 CL E G H	5160	8806	OMIM:312170	Pyruvate dehydrogenase e1-alpha deficiency		88
HP:0002305	HP:0002305	Athetosis	0	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form	HP:0040283 - Occasional	37
HP:0002305	HP:0002305	Athetosis	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional	37
HP:0002305	HP:0002305	Athetosis	0	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1		37
HP:0002305	HP:0002305	Athetosis	0	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy		2
HP:0002305	HP:0002305	Athetosis	0	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy		3
HP:0002305	HP:0002305	Athetosis	0	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation	.	57
HP:0002305	HP:0002305	Athetosis	0	PIK3R5 CL E G H	23533	30035	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2		11
HP:0002305	HP:0002305	Athetosis	0	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease		60
HP:0002305	HP:0002305	Athetosis	0	PLP1 CL E G H	5354	9086	ORPHA:280219	Pelizaeus-Merzbacher disease, classic form	HP:0040282 - Frequent	60
HP:0002305	HP:0002305	Athetosis	0	PNKD CL E G H	25953	9153	ORPHA:98810	Paroxysmal non-kinesigenic dyskinesia		66
HP:0002305	HP:0002305	Athetosis	0	PNKD CL E G H	25953	9153	OMIM:118800	Paroxysmal nonkinesigenic dyskinesia 1		66
HP:0002305	HP:0002305	Athetosis	0	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy		244
HP:0002305	HP:0002305	Athetosis	0	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13		60
HP:0002305	HP:0002305	Athetosis	0	PNPT1 CL E G H	87178	23166	OMIM:614932	Combined oxidative phosphorylation deficiency 13		60
HP:0002305	HP:0002305	Athetosis	0	POLG CL E G H	5428	9179	ORPHA:726	Alpers-Huttenlocher syndrome		464
HP:0002305	HP:0002305	Athetosis	0	POLR3K CL E G H	51728	14121	OMIM:619310	LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21
HP:0002305	HP:0002305	Athetosis	0	POU3F3 CL E G H	5455	9216	OMIM:618604	SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS
HP:0002305	HP:0002305	Athetosis	0	PRRT2 CL E G H	112476	30500	OMIM:602066	Convulsions, familial infantile, with paroxysmal choreoathetosis		94
HP:0002305	HP:0002305	Athetosis	0	PRRT2 CL E G H	112476	30500	OMIM:128200	Episodic kinesigenic dyskinesia 1		94
HP:0002305	HP:0002305	Athetosis	0	PRRT2 CL E G H	112476	30500	ORPHA:31709	Infantile convulsions and choreoathetosis	HP:0040282 - Frequent	94
HP:0002305	HP:0002305	Athetosis	0	PRRT2 CL E G H	112476	30500	ORPHA:98811	Paroxysmal exertion-induced dyskinesia		94
HP:0002305	HP:0002305	Athetosis	0	PRRT2 CL E G H	112476	30500	ORPHA:98809	Paroxysmal kinesigenic dyskinesia	HP:0040281 - Very frequent	94
HP:0002305	HP:0002305	Athetosis	0	PRRT2 CL E G H	112476	30500	ORPHA:98810	Paroxysmal non-kinesigenic dyskinesia		94
HP:0002305	HP:0002305	Athetosis	0	PTS CL E G H	5805	9689	ORPHA:13	6-pyruvoyl-tetrahydropterin synthase deficiency		19
HP:0002305	HP:0002305	Athetosis	0	PTS CL E G H	5805	9689	OMIM:261640	Hyperphenylalaninemia, BH4-deficient, A		19
HP:0002305	HP:0002305	Athetosis	0	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB		53
HP:0002305	HP:0002305	Athetosis	0	QDPR CL E G H	5860	9752	OMIM:261630	Hyperphenylalaninemia, bh4-deficient, C		43
HP:0002305	HP:0002305	Athetosis	0	RNASET2 CL E G H	8635	21686	OMIM:612951	Leukoencephalopathy, cystic, without megalencephaly	HP:0040283 - Occasional	37
HP:0002305	HP:0002305	Athetosis	0	SCN1A CL E G H	6323	10585	OMIM:619317	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B		1053
HP:0002305	HP:0002305	Athetosis	0	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy		126
HP:0002305	HP:0002305	Athetosis	0	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy		427
HP:0002305	HP:0002305	Athetosis	0	SCN8A CL E G H	6334	10596	ORPHA:31709	Infantile convulsions and choreoathetosis	HP:0040282 - Frequent	357
HP:0002305	HP:0002305	Athetosis	0	SEPSECS CL E G H	51091	30605	ORPHA:2524	Pontocerebellar hypoplasia type 2		66
HP:0002305	HP:0002305	Athetosis	0	SETX CL E G H	23064	445	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2		162
HP:0002305	HP:0002305	Athetosis	0	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome
HP:0002305	HP:0002305	Athetosis	0	SHQ1 CL E G H	55164	25543	OMIM:619922
HP:0002305	HP:0002305	Athetosis	0	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy		11
HP:0002305	HP:0002305	Athetosis	0	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome		57
HP:0002305	HP:0002305	Athetosis	0	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome		57
HP:0002305	HP:0002305	Athetosis	0	SLC17A5 CL E G H	26503	10933	OMIM:604369	Salla disease	.	78
HP:0002305	HP:0002305	Athetosis	0	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood		63
HP:0002305	HP:0002305	Athetosis	0	SLC20A2 CL E G H	6575	10947	OMIM:213600	Basal ganglia calcification, idiopathic, 1	.	70
HP:0002305	HP:0002305	Athetosis	0	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy		166
HP:0002305	HP:0002305	Athetosis	0	SLC25A42 CL E G H	284439	28380	OMIM:618416	Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression		1
HP:0002305	HP:0002305	Athetosis	0	SLC2A1 CL E G H	6513	11005	ORPHA:71277	Classic glucose transporter type 1 deficiency syndrome		255
HP:0002305	HP:0002305	Athetosis	0	SLC2A1 CL E G H	6513	11005	OMIM:601042	Dystonia 9		255
HP:0002305	HP:0002305	Athetosis	0	SLC2A1 CL E G H	6513	11005	OMIM:606777	Glut1 deficiency syndrome 1		255
HP:0002305	HP:0002305	Athetosis	0	SLC2A1 CL E G H	6513	11005	OMIM:612126	Glut1 deficiency syndrome 2		255
HP:0002305	HP:0002305	Athetosis	0	SLC2A1 CL E G H	6513	11005	ORPHA:53583	Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity		255
HP:0002305	HP:0002305	Athetosis	0	SLC2A1 CL E G H	6513	11005	ORPHA:98811	Paroxysmal exertion-induced dyskinesia		255
HP:0002305	HP:0002305	Athetosis	0	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome		1
HP:0002305	HP:0002305	Athetosis	0	SLC46A1 CL E G H	113235	30521	OMIM:229050	Folate malabsorption, hereditary	.	101
HP:0002305	HP:0002305	Athetosis	0	SLC6A8 CL E G H	6535	11055	ORPHA:52503	X-linked creatine transporter deficiency	HP:0040282 - Frequent	122
HP:0002305	HP:0002305	Athetosis	0	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A	.	164
HP:0002305	HP:0002305	Athetosis	0	SPR CL E G H	6697	11257	OMIM:612716	Dystonia, dopa-responsive, due to sepiapterin reductase deficiency		28
HP:0002305	HP:0002305	Athetosis	0	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness		3
HP:0002305	HP:0002305	Athetosis	0	ST3GAL5 CL E G H	8869	10872	OMIM:609056	Salt and pepper developmental regression syndrome		47
HP:0002305	HP:0002305	Athetosis	0	STXBP1 CL E G H	6812	11444	OMIM:612164	Epileptic encephalopathy, early infantile, 4		237
HP:0002305	HP:0002305	Athetosis	0	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	.	66
HP:0002305	HP:0002305	Athetosis	0	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria		60
HP:0002305	HP:0002305	Athetosis	0	SUOX CL E G H	6821	11460	OMIM:272300	SULFOCYSTEINURIA		40
HP:0002305	HP:0002305	Athetosis	0	SYT1 CL E G H	6857	11509	OMIM:618218	Baker-Gordon syndrome		1
HP:0002305	HP:0002305	Athetosis	0	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome		1
HP:0002305	HP:0002305	Athetosis	0	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX		1
HP:0002305	HP:0002305	Athetosis	0	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16
HP:0002305	HP:0002305	Athetosis	0	TNR CL E G H	7143	11953	OMIM:619653	NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO		7
HP:0002305	HP:0002305	Athetosis	0	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7		6
HP:0002305	HP:0002305	Athetosis	0	TRAPPC11 CL E G H	60684	25751	OMIM:615356	Muscular dystrophy, limb-girdle, autosomal recessive 18	.	27
HP:0002305	HP:0002305	Athetosis	0	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy		1
HP:0002305	HP:0002305	Athetosis	0	TSEN15 CL E G H	116461	16791	ORPHA:2524	Pontocerebellar hypoplasia type 2		3
HP:0002305	HP:0002305	Athetosis	0	TSEN2 CL E G H	80746	28422	ORPHA:2524	Pontocerebellar hypoplasia type 2		84
HP:0002305	HP:0002305	Athetosis	0	TSEN34 CL E G H	79042	15506	ORPHA:2524	Pontocerebellar hypoplasia type 2		57
HP:0002305	HP:0002305	Athetosis	0	TSEN54 CL E G H	283989	27561	ORPHA:2524	Pontocerebellar hypoplasia type 2		102
HP:0002305	HP:0002305	Athetosis	0	TUBB4A CL E G H	10382	20774	OMIM:612438	Leukodystrophy, hypomyelinating, 6		66
HP:0002305	HP:0002305	Athetosis	0	TWNK CL E G H	56652	1160	OMIM:271245	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)	.	113
HP:0002305	HP:0002305	Athetosis	0	UBA5 CL E G H	79876	23230	OMIM:617132	Epileptic encephalopathy, early infantile, 44	.	13
HP:0002305	HP:0002305	Athetosis	0	UBQLN2 CL E G H	29978	12509	OMIM:300857	Amyotrophic lateral sclerosis 15 with or without frontotemporal dementia	.	20
HP:0002305	HP:0002305	Athetosis	0	UQCRQ CL E G H	27089	29594	OMIM:615159	Mitochondrial complex III deficiency, nuclear type 4	.	34
HP:0002305	HP:0002305	Athetosis	0	VPS13A CL E G H	23230	1908	OMIM:200150	CHOREOACANTHOCYTOSIS		130
HP:0002305	HP:0002305	Athetosis	0	WARS2 CL E G H	10352	12730	OMIM:617710	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures	.	2
HP:0002305	HP:0002305	Athetosis	0	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect	HP:0040283 - Occasional	2
HP:0002305	HP:0002305	Athetosis	0	XPA CL E G H	7507	12814	OMIM:278700	Xeroderma pigmentosum, complementation group A		34
HP:0002305	HP:0002305	Athetosis	0	XPR1 CL E G H	9213	12827	OMIM:616413	Basal ganglia calcification, idiopathic, 6		4
HP:0002305	HP:0001266	Choreoathetosis	1	ABHD16A CL E G H	7920	13921	OMIM:619735	SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86
HP:0002305	HP:0001266	Choreoathetosis	1	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent	116
HP:0002305	HP:0001266	Choreoathetosis	1	ADCY5 CL E G H	111	236	OMIM:606703	Dyskinesia, familial, with facial myokymia		25
HP:0002305	HP:0001266	Choreoathetosis	1	AP1S2 CL E G H	8905	560	OMIM:304340	Pettigrew syndrome	.	13
HP:0002305	HP:0001266	Choreoathetosis	1	ARX CL E G H	170302	18060	OMIM:308350	Developmental and epileptic encephalopathy 1	.	166
HP:0002305	HP:0001266	Choreoathetosis	1	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	166
HP:0002305	HP:0001266	Choreoathetosis	1	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31		1
HP:0002305	HP:0001266	Choreoathetosis	1	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA	.	3267
HP:0002305	HP:0001266	Choreoathetosis	1	ATN1 CL E G H	1822	3033	ORPHA:101	Dentatorubral pallidoluysian atrophy	HP:0040282 - Frequent	16
HP:0002305	HP:0001266	Choreoathetosis	1	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:0002305	HP:0001266	Choreoathetosis	1	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional	239
HP:0002305	HP:0001266	Choreoathetosis	1	ATP1A2 CL E G H	477	800	OMIM:104290	Alternating hemiplegia of childhood 1	.	239
HP:0002305	HP:0001266	Choreoathetosis	1	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional	150
HP:0002305	HP:0001266	Choreoathetosis	1	ATP1A3 CL E G H	478	801	OMIM:614820	Alternating hemiplegia of childhood 2	.	150
HP:0002305	HP:0001266	Choreoathetosis	1	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent
HP:0002305	HP:0001266	Choreoathetosis	1	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional	449
HP:0002305	HP:0001266	Choreoathetosis	1	CACNA1B CL E G H	774	1389	OMIM:618497	Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements	.	5
HP:0002305	HP:0001266	Choreoathetosis	1	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	118
HP:0002305	HP:0001266	Choreoathetosis	1	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	405
HP:0002305	HP:0001266	Choreoathetosis	1	CERS1 CL E G H	10715	14253	OMIM:616230	Epilepsy, progressive myoclonic, 8		1
HP:0002305	HP:0001266	Choreoathetosis	1	CHKA CL E G H	1119	1937	OMIM:620023
HP:0002305	HP:0001266	Choreoathetosis	1	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7	HP:0040282 - Frequent	38
HP:0002305	HP:0001266	Choreoathetosis	1	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia		38
HP:0002305	HP:0001266	Choreoathetosis	1	COX20 CL E G H	116228	26970	OMIM:619054	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11		25
HP:0002305	HP:0001266	Choreoathetosis	1	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome	HP:0040281 - Very frequent	87
HP:0002305	HP:0001266	Choreoathetosis	1	DCAF17 CL E G H	80067	25784	OMIM:241080	Woodhouse-Sakati syndrome	.	87
HP:0002305	HP:0001266	Choreoathetosis	1	DDC CL E G H	1644	2719	OMIM:608643	Aromatic L-amino acid decarboxylase deficiency	.	43
HP:0002305	HP:0001266	Choreoathetosis	1	DLAT CL E G H	1737	2896	OMIM:245348	Pyruvate dehydrogenase E2 deficiency	.	82
HP:0002305	HP:0001266	Choreoathetosis	1	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	3
HP:0002305	HP:0001266	Choreoathetosis	1	EIF2AK2 CL E G H	5610	9437	OMIM:618877	LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0002305	HP:0001266	Choreoathetosis	1	ELP2 CL E G H	55250	18248	OMIM:617270	Mental retardation, autosomal recessive 58	.	6
HP:0002305	HP:0001266	Choreoathetosis	1	ERCC2 CL E G H	2068	3434	OMIM:278730	Xeroderma pigmentosum, complementation group D	.	106
HP:0002305	HP:0001266	Choreoathetosis	1	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome	.	199
HP:0002305	HP:0001266	Choreoathetosis	1	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	HP:0040283 - Occasional	384
HP:0002305	HP:0001266	Choreoathetosis	1	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0002305	HP:0001266	Choreoathetosis	1	FRRS1L CL E G H	23732	1362	OMIM:616981	Epileptic encephalopathy, early infantile, 37	.	4
HP:0002305	HP:0001266	Choreoathetosis	1	FTL CL E G H	2512	3999	OMIM:606159	Neurodegeneration with brain iron accumulation 3		33
HP:0002305	HP:0001266	Choreoathetosis	1	GCDH CL E G H	2639	4189	OMIM:231670	Glutaric acidemia I	.	115
HP:0002305	HP:0001266	Choreoathetosis	1	GCH1 CL E G H	2643	4193	OMIM:233910	Hyperphenylalaninemia, BH4-deficient, B	.	86
HP:0002305	HP:0001266	Choreoathetosis	1	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2	.	37
HP:0002305	HP:0001266	Choreoathetosis	1	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	36
HP:0002305	HP:0001266	Choreoathetosis	1	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A	HP:0040283 - Occasional	101
HP:0002305	HP:0001266	Choreoathetosis	1	GON7 CL E G H	84520	20356	OMIM:619603	GALLOWAY-MOWAT SYNDROME 9; GAMOS9
HP:0002305	HP:0001266	Choreoathetosis	1	GRIK2 CL E G H	2898	4580	OMIM:619580	NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS		32
HP:0002305	HP:0001266	Choreoathetosis	1	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	108
HP:0002305	HP:0001266	Choreoathetosis	1	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	5
HP:0002305	HP:0001266	Choreoathetosis	1	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome	.
HP:0002305	HP:0001266	Choreoathetosis	1	GUF1 CL E G H	60558	25799	OMIM:617065	Epileptic encephalopathy, early infantile, 40	.	2
HP:0002305	HP:0001266	Choreoathetosis	1	HPRT1 CL E G H	3251	5157	OMIM:300322	Lesch-Nyhan syndrome	.	76
HP:0002305	HP:0001266	Choreoathetosis	1	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type	HP:0040283 - Occasional	19
HP:0002305	HP:0001266	Choreoathetosis	1	HSD17B10 CL E G H	3028	4800	OMIM:300438	HSD10 mitochondrial disease	.	19
HP:0002305	HP:0001266	Choreoathetosis	1	HSPD1 CL E G H	3329	5261	OMIM:612233	Leukodystrophy, hypomyelinating, 4	.	46
HP:0002305	HP:0001266	Choreoathetosis	1	IREB2 CL E G H	3658	6115	OMIM:618451	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia	.
HP:0002305	HP:0001266	Choreoathetosis	1	IRF2BPL CL E G H	64207	14282	OMIM:618088	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	.
HP:0002305	HP:0001266	Choreoathetosis	1	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	145
HP:0002305	HP:0001266	Choreoathetosis	1	KCNA1 CL E G H	3736	6218	ORPHA:37612	Episodic ataxia type 1	HP:0040283 - Occasional	145
HP:0002305	HP:0001266	Choreoathetosis	1	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13		950
HP:0002305	HP:0001266	Choreoathetosis	1	MED23 CL E G H	9439	2372	OMIM:614249	Mental retardation, autosomal recessive 18		25
HP:0002305	HP:0001266	Choreoathetosis	1	MICOS13 CL E G H	125988	33702	ORPHA:67047	3-methylglutaconic aciduria type 3	HP:0040281 - Very frequent
HP:0002305	HP:0001266	Choreoathetosis	1	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs		14
HP:0002305	HP:0001266	Choreoathetosis	1	MMUT CL E G H	4594	7526	ORPHA:79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-	HP:0040283 - Occasional
HP:0002305	HP:0001266	Choreoathetosis	1	MMUT CL E G H	4594	7526	ORPHA:289916	Vitamin B12-unresponsive methylmalonic acidemia type mut0	HP:0040283 - Occasional
HP:0002305	HP:0001266	Choreoathetosis	1	MRPS34 CL E G H	65993	16618	OMIM:617664	Combined oxidative phosphorylation deficiency 32	.	1
HP:0002305	HP:0001266	Choreoathetosis	1	NADK2 CL E G H	133686	26404	OMIM:616034	2,4-Dienoyl-Coa reductase deficiency	.	14
HP:0002305	HP:0001266	Choreoathetosis	1	NADK2 CL E G H	133686	26404	ORPHA:431361	Progressive encephalopathy with leukodystrophy due to DECR deficiency	HP:0040282 - Frequent	14
HP:0002305	HP:0001266	Choreoathetosis	1	NDUFA1 CL E G H	4694	7683	OMIM:301020	Mitochondrial complex I deficiency, nuclear type 12	.	7
HP:0002305	HP:0001266	Choreoathetosis	1	NDUFA13 CL E G H	51079	17194	OMIM:618249	Mitochondrial complex I deficiency, nuclear type 28	.	3
HP:0002305	HP:0001266	Choreoathetosis	1	NDUFA9 CL E G H	4704	7693	OMIM:618247	Mitochondrial complex I deficiency, nuclear type 26	.	27
HP:0002305	HP:0001266	Choreoathetosis	1	NDUFAF5 CL E G H	79133	15899	OMIM:618238	Mitochondrial complex I deficiency, nuclear type 16		34
HP:0002305	HP:0001266	Choreoathetosis	1	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional
HP:0002305	HP:0001266	Choreoathetosis	1	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome	HP:0040282 - Frequent	51
HP:0002305	HP:0001266	Choreoathetosis	1	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress		51
HP:0002305	HP:0001266	Choreoathetosis	1	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent	7
HP:0002305	HP:0001266	Choreoathetosis	1	NUP62 CL E G H	23636	8066	OMIM:271930	Striatonigral degeneration, infantile	.	7
HP:0002305	HP:0001266	Choreoathetosis	1	OPA3 CL E G H	80207	8142	ORPHA:67047	3-methylglutaconic aciduria type 3	HP:0040281 - Very frequent	163
HP:0002305	HP:0001266	Choreoathetosis	1	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1	.	55
HP:0002305	HP:0001266	Choreoathetosis	1	PDE2A CL E G H	5138	8777	ORPHA:31709	Infantile convulsions and choreoathetosis	HP:0040282 - Frequent
HP:0002305	HP:0001266	Choreoathetosis	1	PDHA1 CL E G H	5160	8806	OMIM:312170	Pyruvate dehydrogenase e1-alpha deficiency	.	88
HP:0002305	HP:0001266	Choreoathetosis	1	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1	HP:0040282 - Frequent	37
HP:0002305	HP:0001266	Choreoathetosis	1	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	2
HP:0002305	HP:0001266	Choreoathetosis	1	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	3
HP:0002305	HP:0001266	Choreoathetosis	1	PIK3R5 CL E G H	23533	30035	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2	HP:0040283 - Occasional	11
HP:0002305	HP:0001266	Choreoathetosis	1	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease		60
HP:0002305	HP:0001266	Choreoathetosis	1	PNKD CL E G H	25953	9153	ORPHA:98810	Paroxysmal non-kinesigenic dyskinesia	HP:0040282 - Frequent	66
HP:0002305	HP:0001266	Choreoathetosis	1	PNKD CL E G H	25953	9153	OMIM:118800	Paroxysmal nonkinesigenic dyskinesia 1		66
HP:0002305	HP:0001266	Choreoathetosis	1	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	244
HP:0002305	HP:0001266	Choreoathetosis	1	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13	HP:0040282 - Frequent	60
HP:0002305	HP:0001266	Choreoathetosis	1	PNPT1 CL E G H	87178	23166	OMIM:614932	Combined oxidative phosphorylation deficiency 13		60
HP:0002305	HP:0001266	Choreoathetosis	1	POLG CL E G H	5428	9179	ORPHA:726	Alpers-Huttenlocher syndrome	HP:0040282 - Frequent	464
HP:0002305	HP:0001266	Choreoathetosis	1	POU3F3 CL E G H	5455	9216	OMIM:618604	SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS
HP:0002305	HP:0001266	Choreoathetosis	1	PRRT2 CL E G H	112476	30500	OMIM:602066	Convulsions, familial infantile, with paroxysmal choreoathetosis		94
HP:0002305	HP:0001266	Choreoathetosis	1	PRRT2 CL E G H	112476	30500	OMIM:128200	Episodic kinesigenic dyskinesia 1		94
HP:0002305	HP:0001266	Choreoathetosis	1	PRRT2 CL E G H	112476	30500	ORPHA:31709	Infantile convulsions and choreoathetosis	HP:0040282 - Frequent	94
HP:0002305	HP:0001266	Choreoathetosis	1	PRRT2 CL E G H	112476	30500	ORPHA:98811	Paroxysmal exertion-induced dyskinesia	HP:0040281 - Very frequent	94
HP:0002305	HP:0001266	Choreoathetosis	1	PRRT2 CL E G H	112476	30500	ORPHA:98810	Paroxysmal non-kinesigenic dyskinesia	HP:0040282 - Frequent	94
HP:0002305	HP:0001266	Choreoathetosis	1	PTS CL E G H	5805	9689	ORPHA:13	6-pyruvoyl-tetrahydropterin synthase deficiency	HP:0040283 - Occasional	19
HP:0002305	HP:0001266	Choreoathetosis	1	PTS CL E G H	5805	9689	OMIM:261640	Hyperphenylalaninemia, BH4-deficient, A	.	19
HP:0002305	HP:0001266	Choreoathetosis	1	QDPR CL E G H	5860	9752	OMIM:261630	Hyperphenylalaninemia, bh4-deficient, C	.	43
HP:0002305	HP:0001266	Choreoathetosis	1	SCN1A CL E G H	6323	10585	OMIM:619317	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B		1053
HP:0002305	HP:0001266	Choreoathetosis	1	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	126
HP:0002305	HP:0001266	Choreoathetosis	1	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	427
HP:0002305	HP:0001266	Choreoathetosis	1	SCN8A CL E G H	6334	10596	ORPHA:31709	Infantile convulsions and choreoathetosis	HP:0040282 - Frequent	357
HP:0002305	HP:0001266	Choreoathetosis	1	SEPSECS CL E G H	51091	30605	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040281 - Very frequent	66
HP:0002305	HP:0001266	Choreoathetosis	1	SETX CL E G H	23064	445	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2	HP:0040283 - Occasional	162
HP:0002305	HP:0001266	Choreoathetosis	1	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0002305	HP:0001266	Choreoathetosis	1	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	11
HP:0002305	HP:0001266	Choreoathetosis	1	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome	HP:0040282 - Frequent	57
HP:0002305	HP:0001266	Choreoathetosis	1	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional	63
HP:0002305	HP:0001266	Choreoathetosis	1	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	166
HP:0002305	HP:0001266	Choreoathetosis	1	SLC25A42 CL E G H	284439	28380	OMIM:618416	Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression	.	1
HP:0002305	HP:0001266	Choreoathetosis	1	SLC2A1 CL E G H	6513	11005	ORPHA:71277	Classic glucose transporter type 1 deficiency syndrome	HP:0040282 - Frequent	255
HP:0002305	HP:0001266	Choreoathetosis	1	SLC2A1 CL E G H	6513	11005	OMIM:601042	Dystonia 9	.	255
HP:0002305	HP:0001266	Choreoathetosis	1	SLC2A1 CL E G H	6513	11005	OMIM:606777	Glut1 deficiency syndrome 1	.	255
HP:0002305	HP:0001266	Choreoathetosis	1	SLC2A1 CL E G H	6513	11005	OMIM:612126	Glut1 deficiency syndrome 2	.	255
HP:0002305	HP:0001266	Choreoathetosis	1	SLC2A1 CL E G H	6513	11005	ORPHA:53583	Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity	HP:0040282 - Frequent	255
HP:0002305	HP:0001266	Choreoathetosis	1	SLC2A1 CL E G H	6513	11005	ORPHA:98811	Paroxysmal exertion-induced dyskinesia	HP:0040281 - Very frequent	255
HP:0002305	HP:0001266	Choreoathetosis	1	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome	.	1
HP:0002305	HP:0001266	Choreoathetosis	1	SPR CL E G H	6697	11257	OMIM:612716	Dystonia, dopa-responsive, due to sepiapterin reductase deficiency	.	28
HP:0002305	HP:0001266	Choreoathetosis	1	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness		3
HP:0002305	HP:0001266	Choreoathetosis	1	ST3GAL5 CL E G H	8869	10872	OMIM:609056	Salt and pepper developmental regression syndrome	.	47
HP:0002305	HP:0001266	Choreoathetosis	1	STXBP1 CL E G H	6812	11444	OMIM:612164	Epileptic encephalopathy, early infantile, 4		237
HP:0002305	HP:0001266	Choreoathetosis	1	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria	HP:0040283 - Occasional	60
HP:0002305	HP:0001266	Choreoathetosis	1	SUOX CL E G H	6821	11460	OMIM:272300	SULFOCYSTEINURIA	.	40
HP:0002305	HP:0001266	Choreoathetosis	1	SYT1 CL E G H	6857	11509	OMIM:618218	Baker-Gordon syndrome	.	1
HP:0002305	HP:0001266	Choreoathetosis	1	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	HP:0040283 - Occasional	1
HP:0002305	HP:0001266	Choreoathetosis	1	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX		1
HP:0002305	HP:0001266	Choreoathetosis	1	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16
HP:0002305	HP:0001266	Choreoathetosis	1	TNR CL E G H	7143	11953	OMIM:619653	NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO		7
HP:0002305	HP:0001266	Choreoathetosis	1	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7		6
HP:0002305	HP:0001266	Choreoathetosis	1	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	1
HP:0002305	HP:0001266	Choreoathetosis	1	TSEN15 CL E G H	116461	16791	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040281 - Very frequent	3
HP:0002305	HP:0001266	Choreoathetosis	1	TSEN2 CL E G H	80746	28422	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040281 - Very frequent	84
HP:0002305	HP:0001266	Choreoathetosis	1	TSEN34 CL E G H	79042	15506	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040281 - Very frequent	57
HP:0002305	HP:0001266	Choreoathetosis	1	TSEN54 CL E G H	283989	27561	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040281 - Very frequent	102
HP:0002305	HP:0001266	Choreoathetosis	1	TUBB4A CL E G H	10382	20774	OMIM:612438	Leukodystrophy, hypomyelinating, 6	.	66
HP:0002305	HP:0001266	Choreoathetosis	1	VPS13A CL E G H	23230	1908	OMIM:200150	CHOREOACANTHOCYTOSIS		130
HP:0002305	HP:0001266	Choreoathetosis	1	XPA CL E G H	7507	12814	OMIM:278700	Xeroderma pigmentosum, complementation group A	.	34
HP:0002305	HP:0001266	Choreoathetosis	1	XPR1 CL E G H	9213	12827	OMIM:616413	Basal ganglia calcification, idiopathic, 6	.	4
HP:0002305	HP:0007098	Paroxysmal choreoathetosis	2	PNKD CL E G H	25953	9153	OMIM:118800	Paroxysmal nonkinesigenic dyskinesia 1	.	66
HP:0002305	HP:0007098	Paroxysmal choreoathetosis	2	PRRT2 CL E G H	112476	30500	OMIM:602066	Convulsions, familial infantile, with paroxysmal choreoathetosis	.	94
HP:0002305	HP:0007098	Paroxysmal choreoathetosis	2	PRRT2 CL E G H	112476	30500	OMIM:128200	Episodic kinesigenic dyskinesia 1	.	94
HP:0002305	HP:0007326	Progressive choreoathetosis	2	VPS13A CL E G H	23230	1908	OMIM:200150	CHOREOACANTHOCYTOSIS	.	130