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:0004305	HP:0004305	Involuntary movements	0	AARS1 CL E G H	16	20	OMIM:616339	Epileptic encephalopathy, early infantile, 29
HP:0004305	HP:0004305	Involuntary movements	0	AARS1 CL E G H	16	20	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0004305	HP:0004305	Involuntary movements	0	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0004305	HP:0004305	Involuntary movements	0	AARS2 CL E G H	57505	21022	OMIM:615889	Leukoencephalopathy, progressive, with ovarian failure		143
HP:0004305	HP:0004305	Involuntary movements	0	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia		15
HP:0004305	HP:0004305	Involuntary movements	0	AASS CL E G H	10157	17366	ORPHA:3124	Saccharopinuria		15
HP:0004305	HP:0004305	Involuntary movements	0	ABCA7 CL E G H	10347	37	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease		3
HP:0004305	HP:0004305	Involuntary movements	0	ABCB11 CL E G H	8647	42	ORPHA:69665	Intrahepatic cholestasis of pregnancy		146
HP:0004305	HP:0004305	Involuntary movements	0	ABCB4 CL E G H	5244	45	ORPHA:69665	Intrahepatic cholestasis of pregnancy		111
HP:0004305	HP:0004305	Involuntary movements	0	ABCB6 CL E G H	10058	47	OMIM:609153	Pseudohyperkalemia, familial, 2, due to red cell leak		20
HP:0004305	HP:0004305	Involuntary movements	0	ABCB7 CL E G H	22	48	OMIM:301310	Anemia, sideroblastic, and spinocerebellar ataxia		35
HP:0004305	HP:0004305	Involuntary movements	0	ABCC8 CL E G H	6833	59	OMIM:618857	DIABETES MELLITUS, PERMANENT NEONATAL, 3; PNDM3		245
HP:0004305	HP:0004305	Involuntary movements	0	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy		135
HP:0004305	HP:0004305	Involuntary movements	0	ABHD12 CL E G H	26090	15868	OMIM:612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract		50
HP:0004305	HP:0004305	Involuntary movements	0	ABHD16A CL E G H	7920	13921	OMIM:619735	SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86
HP:0004305	HP:0004305	Involuntary movements	0	ACAT2 CL E G H	39	94	OMIM:614055	Acetyl-Coa acetyltransferase-2 deficiency
HP:0004305	HP:0004305	Involuntary movements	0	ACBD5 CL E G H	91452	23338	OMIM:618863	RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD		1
HP:0004305	HP:0004305	Involuntary movements	0	ACO2 CL E G H	50	118	OMIM:614559	INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD		60
HP:0004305	HP:0004305	Involuntary movements	0	ACP5 CL E G H	54	124	ORPHA:1855	Spondyloenchondrodysplasia		16
HP:0004305	HP:0004305	Involuntary movements	0	ACTL6B CL E G H	51412	160	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	2
HP:0004305	HP:0004305	Involuntary movements	0	ADA2 CL E G H	51816	1839	ORPHA:820	Sneddon syndrome		22
HP:0004305	HP:0004305	Involuntary movements	0	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome		22
HP:0004305	HP:0004305	Involuntary movements	0	ADAMTS13 CL E G H	11093	1366	OMIM:274150	Thrombotic thrombocytopenic purpura, hereditary		129
HP:0004305	HP:0004305	Involuntary movements	0	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome		116
HP:0004305	HP:0004305	Involuntary movements	0	ADAR CL E G H	103	225	OMIM:615010	Aicardi-Goutieres syndrome 6		116
HP:0004305	HP:0004305	Involuntary movements	0	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis		116
HP:0004305	HP:0004305	Involuntary movements	0	ADCY5 CL E G H	111	236	OMIM:619647	DYSKINESIA WITH OROFACIAL INVOLVEMENT, AUTOSOMAL RECESSIVE; DSKOR		25
HP:0004305	HP:0004305	Involuntary movements	0	ADCY5 CL E G H	111	236	OMIM:606703	Dyskinesia, familial, with facial myokymia		25
HP:0004305	HP:0004305	Involuntary movements	0	ADCY5 CL E G H	111	236	ORPHA:324588	Familial dyskinesia and facial myokymia		25
HP:0004305	HP:0004305	Involuntary movements	0	ADCY5 CL E G H	111	236	OMIM:619651	NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD		25
HP:0004305	HP:0004305	Involuntary movements	0	ADGRG1 CL E G H	9289	4512	OMIM:606854	Polymicrogyria, bilateral frontoparietal		88
HP:0004305	HP:0004305	Involuntary movements	0	ADGRL1 CL E G H	22859	20973	OMIM:620065
HP:0004305	HP:0004305	Involuntary movements	0	ADGRV1 CL E G H	84059	17416	ORPHA:36387	Generalized epilepsy with febrile seizures-plus		530
HP:0004305	HP:0004305	Involuntary movements	0	ADH1C CL E G H	126	251	OMIM:168600	Parkinson disease, late-onset		4
HP:0004305	HP:0004305	Involuntary movements	0	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome		47
HP:0004305	HP:0004305	Involuntary movements	0	ADPRS CL E G H	54936	21304	OMIM:618170	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
HP:0004305	HP:0004305	Involuntary movements	0	ADRA2B CL E G H	151	282	ORPHA:86814	Benign adult familial myoclonic epilepsy		3
HP:0004305	HP:0004305	Involuntary movements	0	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency		118
HP:0004305	HP:0004305	Involuntary movements	0	AFF2 CL E G H	2334	3776	ORPHA:100973	FRAXE intellectual disability		59
HP:0004305	HP:0004305	Involuntary movements	0	AFF2 CL E G H	2334	3776	OMIM:309548	Mental retardation, X-linked, associated with fragile site fraxe		59
HP:0004305	HP:0004305	Involuntary movements	0	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0004305	HP:0004305	Involuntary movements	0	AFG3L2 CL E G H	10939	315	ORPHA:313772	Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome		86
HP:0004305	HP:0004305	Involuntary movements	0	AFG3L2 CL E G H	10939	315	OMIM:614487	Spastic ataxia 5, autosomal recessive		86
HP:0004305	HP:0004305	Involuntary movements	0	AFG3L2 CL E G H	10939	315	ORPHA:101109	Spinocerebellar ataxia type 28		86
HP:0004305	HP:0004305	Involuntary movements	0	AGTPBP1 CL E G H	23287	17258	OMIM:618276	Neurodegeneration, childhood-onset, with cerebellar atrophy		1
HP:0004305	HP:0004305	Involuntary movements	0	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1		1
HP:0004305	HP:0004305	Involuntary movements	0	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome		175
HP:0004305	HP:0004305	Involuntary movements	0	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect		175
HP:0004305	HP:0004305	Involuntary movements	0	AIFM1 CL E G H	9131	8768	OMIM:300816	Combined oxidative phosphorylation deficiency 6	.	60
HP:0004305	HP:0004305	Involuntary movements	0	AIFM1 CL E G H	9131	8768	ORPHA:83629	Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome		60
HP:0004305	HP:0004305	Involuntary movements	0	AIFM1 CL E G H	9131	8768	ORPHA:238329	Severe X-linked mitochondrial encephalomyopathy	HP:0040282 - Frequent	60
HP:0004305	HP:0004305	Involuntary movements	0	AIFM1 CL E G H	9131	8768	ORPHA:101078	X-linked Charcot-Marie-Tooth disease type 4		60
HP:0004305	HP:0004305	Involuntary movements	0	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6		54
HP:0004305	HP:0004305	Involuntary movements	0	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma		54
HP:0004305	HP:0004305	Involuntary movements	0	AKT3 CL E G H	10000	393	ORPHA:99802	Hemimegalencephaly		19
HP:0004305	HP:0004305	Involuntary movements	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A		89
HP:0004305	HP:0004305	Involuntary movements	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447757	Autosomal dominant spastic paraplegia type 9B		89
HP:0004305	HP:0004305	Involuntary movements	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B		89
HP:0004305	HP:0004305	Involuntary movements	0	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA		89
HP:0004305	HP:0004305	Involuntary movements	0	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant		89
HP:0004305	HP:0004305	Involuntary movements	0	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive		89
HP:0004305	HP:0004305	Involuntary movements	0	ALKBH8 CL E G H	91801	25189	OMIM:618504	Intellectual developmental disorder, autosomal recessive 71
HP:0004305	HP:0004305	Involuntary movements	0	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile		114
HP:0004305	HP:0004305	Involuntary movements	0	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		114
HP:0004305	HP:0004305	Involuntary movements	0	AMACR CL E G H	23600	451	OMIM:614307	Alpha-methylacyl-CoA racemase deficiency		44
HP:0004305	HP:0004305	Involuntary movements	0	AMACR CL E G H	23600	451	ORPHA:79095	Congenital bile acid synthesis defect type 4		44
HP:0004305	HP:0004305	Involuntary movements	0	AMPD2 CL E G H	271	469	OMIM:615809	Pontocerebellar hypoplasia, type 9		21
HP:0004305	HP:0004305	Involuntary movements	0	AMPD2 CL E G H	271	469	OMIM:615686	Spastic paraplegia 63, autosomal recessive		21
HP:0004305	HP:0004305	Involuntary movements	0	AMT CL E G H	275	473	OMIM:605899	Glycine encephalopathy		56
HP:0004305	HP:0004305	Involuntary movements	0	ANO10 CL E G H	55129	25519	ORPHA:284289	Adult-onset autosomal recessive cerebellar ataxia		64
HP:0004305	HP:0004305	Involuntary movements	0	ANO10 CL E G H	55129	25519	OMIM:613728	Spinocerebellar ataxia, autosomal recessive 10		64
HP:0004305	HP:0004305	Involuntary movements	0	ANO3 CL E G H	63982	14004	ORPHA:420485	Cranio-cervical dystonia with laryngeal and upper-limb involvement		17
HP:0004305	HP:0004305	Involuntary movements	0	ANO3 CL E G H	63982	14004	OMIM:615034	Dystonia 24		17
HP:0004305	HP:0004305	Involuntary movements	0	ANOS1 CL E G H	3730	6211	ORPHA:478	Kallmann syndrome		65
HP:0004305	HP:0004305	Involuntary movements	0	ANXA11 CL E G H	311	535	OMIM:619733	INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0004305	HP:0004305	Involuntary movements	0	AP1S2 CL E G H	8905	560	OMIM:304340	Pettigrew syndrome		13
HP:0004305	HP:0004305	Involuntary movements	0	AP2M1 CL E G H	1173	564	OMIM:618587	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES; MRD60
HP:0004305	HP:0004305	Involuntary movements	0	AP2M1 CL E G H	1173	564	ORPHA:1942	Myoclonic-astatic epilepsy
HP:0004305	HP:0004305	Involuntary movements	0	AP3B2 CL E G H	8120	567	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	7
HP:0004305	HP:0004305	Involuntary movements	0	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia		49
HP:0004305	HP:0004305	Involuntary movements	0	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia		48
HP:0004305	HP:0004305	Involuntary movements	0	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia		41
HP:0004305	HP:0004305	Involuntary movements	0	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia		18
HP:0004305	HP:0004305	Involuntary movements	0	AP5Z1 CL E G H	9907	22197	ORPHA:306511	Autosomal recessive spastic paraplegia type 48		165
HP:0004305	HP:0004305	Involuntary movements	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome		1
HP:0004305	HP:0004305	Involuntary movements	0	APOE CL E G H	348	613	OMIM:607822	Alzheimer disease 3		39
HP:0004305	HP:0004305	Involuntary movements	0	APP CL E G H	351	620	ORPHA:324708	ABeta amyloidosis, Iowa type		74
HP:0004305	HP:0004305	Involuntary movements	0	APP CL E G H	351	620	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease		74
HP:0004305	HP:0004305	Involuntary movements	0	APTX CL E G H	54840	15984	OMIM:208920	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia		61
HP:0004305	HP:0004305	Involuntary movements	0	AR CL E G H	367	644	OMIM:313200	Spinal and bulbar muscular atrophy, X-linked 1		125
HP:0004305	HP:0004305	Involuntary movements	0	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6		25
HP:0004305	HP:0004305	Involuntary movements	0	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome		62
HP:0004305	HP:0004305	Involuntary movements	0	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome		1
HP:0004305	HP:0004305	Involuntary movements	0	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome
HP:0004305	HP:0004305	Involuntary movements	0	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0004305	HP:0004305	Involuntary movements	0	ARSA CL E G H	410	713	OMIM:250100	Metachromatic leukodystrophy		253
HP:0004305	HP:0004305	Involuntary movements	0	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form		253
HP:0004305	HP:0004305	Involuntary movements	0	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form		253
HP:0004305	HP:0004305	Involuntary movements	0	ARV1 CL E G H	64801	29561	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	3
HP:0004305	HP:0004305	Involuntary movements	0	ARX CL E G H	170302	18060	OMIM:308350	Developmental and epileptic encephalopathy 1		166
HP:0004305	HP:0004305	Involuntary movements	0	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy		166
HP:0004305	HP:0004305	Involuntary movements	0	ARX CL E G H	170302	18060	ORPHA:3451	Infantile spasms syndrome		166
HP:0004305	HP:0004305	Involuntary movements	0	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease		78
HP:0004305	HP:0004305	Involuntary movements	0	ASAH1 CL E G H	427	735	OMIM:159950	Spinal muscular atrophy with progressive myoclonic epilepsy		78
HP:0004305	HP:0004305	Involuntary movements	0	ASAH1 CL E G H	427	735	ORPHA:2590	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome		78
HP:0004305	HP:0004305	Involuntary movements	0	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52		1
HP:0004305	HP:0004305	Involuntary movements	0	ASXL3 CL E G H	80816	29357	ORPHA:352577	Bainbridge-Ropers syndrome		49
HP:0004305	HP:0004305	Involuntary movements	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0004305	HP:0004305	Involuntary movements	0	ATAD1 CL E G H	84896	25903	ORPHA:3197	Hereditary hyperekplexia
HP:0004305	HP:0004305	Involuntary movements	0	ATAD1 CL E G H	84896	25903	OMIM:618011	Hyperekplexia 4
HP:0004305	HP:0004305	Involuntary movements	0	ATCAY CL E G H	85300	779	OMIM:601238	Cerebellar ataxia, Cayman type		72
HP:0004305	HP:0004305	Involuntary movements	0	ATCAY CL E G H	85300	779	ORPHA:94122	Cerebellar ataxia, Cayman type		72
HP:0004305	HP:0004305	Involuntary movements	0	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31		1
HP:0004305	HP:0004305	Involuntary movements	0	ATL1 CL E G H	51062	11231	ORPHA:100984	Autosomal dominant spastic paraplegia type 3		71
HP:0004305	HP:0004305	Involuntary movements	0	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia		3267
HP:0004305	HP:0004305	Involuntary movements	0	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA		3267
HP:0004305	HP:0004305	Involuntary movements	0	ATN1 CL E G H	1822	3033	ORPHA:101	Dentatorubral pallidoluysian atrophy	HP:0040282 - Frequent	16
HP:0004305	HP:0004305	Involuntary movements	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:0004305	HP:0004305	Involuntary movements	0	ATP11A CL E G H	23250	13552	OMIM:619851	LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0004305	HP:0004305	Involuntary movements	0	ATP13A2 CL E G H	23400	30213	ORPHA:314632	ATP13A2-related juvenile neuronal ceroid lipofuscinosis		100
HP:0004305	HP:0004305	Involuntary movements	0	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome		100
HP:0004305	HP:0004305	Involuntary movements	0	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome		100
HP:0004305	HP:0004305	Involuntary movements	0	ATP13A2 CL E G H	23400	30213	OMIM:617225	SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78		100
HP:0004305	HP:0004305	Involuntary movements	0	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood		239
HP:0004305	HP:0004305	Involuntary movements	0	ATP1A2 CL E G H	477	800	OMIM:104290	Alternating hemiplegia of childhood 1		239
HP:0004305	HP:0004305	Involuntary movements	0	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent	239
HP:0004305	HP:0004305	Involuntary movements	0	ATP1A2 CL E G H	477	800	OMIM:602481	Migraine, familial hemiplegic, 2		239
HP:0004305	HP:0004305	Involuntary movements	0	ATP1A2 CL E G H	477	800	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	239
HP:0004305	HP:0004305	Involuntary movements	0	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood		150
HP:0004305	HP:0004305	Involuntary movements	0	ATP1A3 CL E G H	478	801	OMIM:614820	Alternating hemiplegia of childhood 2		150
HP:0004305	HP:0004305	Involuntary movements	0	ATP1A3 CL E G H	478	801	OMIM:619606	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99		150
HP:0004305	HP:0004305	Involuntary movements	0	ATP1A3 CL E G H	478	801	OMIM:128235	Dystonia 12		150
HP:0004305	HP:0004305	Involuntary movements	0	ATP1A3 CL E G H	478	801	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	150
HP:0004305	HP:0004305	Involuntary movements	0	ATP1A3 CL E G H	478	801	ORPHA:71517	Rapid-onset dystonia-parkinsonism		150
HP:0004305	HP:0004305	Involuntary movements	0	ATP2B3 CL E G H	492	816	OMIM:302500	Spinocerebellar ataxia, X-linked 1		19
HP:0004305	HP:0004305	Involuntary movements	0	ATP2B3 CL E G H	492	816	ORPHA:314978	X-linked non progressive cerebellar ataxia		19
HP:0004305	HP:0004305	Involuntary movements	0	ATP5MK CL E G H	84833	30889	OMIM:618683	MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6; MC5DN6
HP:0004305	HP:0004305	Involuntary movements	0	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis
HP:0004305	HP:0004305	Involuntary movements	0	ATP6 CL E G H	4508	7414	ORPHA:104	Leber hereditary optic neuropathy
HP:0004305	HP:0004305	Involuntary movements	0	ATP6 CL E G H	4508	7414	OMIM:535000	Leber optic atrophy
HP:0004305	HP:0004305	Involuntary movements	0	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0004305	HP:0004305	Involuntary movements	0	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome
HP:0004305	HP:0004305	Involuntary movements	0	ATP6AP2 CL E G H	10159	18305	OMIM:300423	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH		36
HP:0004305	HP:0004305	Involuntary movements	0	ATP6AP2 CL E G H	10159	18305	OMIM:300911	Parkinsonism with spasticity, X-linked		36
HP:0004305	HP:0004305	Involuntary movements	0	ATP6AP2 CL E G H	10159	18305	ORPHA:93952	X-linked intellectual disability, Hedera type		36
HP:0004305	HP:0004305	Involuntary movements	0	ATP6AP2 CL E G H	10159	18305	ORPHA:363654	X-linked parkinsonism-spasticity syndrome		36
HP:0004305	HP:0004305	Involuntary movements	0	ATP6V0A1 CL E G H	535	865	OMIM:619971			1
HP:0004305	HP:0004305	Involuntary movements	0	ATP6V1A CL E G H	523	851	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	3
HP:0004305	HP:0004305	Involuntary movements	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome		5
HP:0004305	HP:0004305	Involuntary movements	0	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease		192
HP:0004305	HP:0004305	Involuntary movements	0	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease		315
HP:0004305	HP:0004305	Involuntary movements	0	ATP8B1 CL E G H	5205	3706	ORPHA:69665	Intrahepatic cholestasis of pregnancy		144
HP:0004305	HP:0004305	Involuntary movements	0	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked		169
HP:0004305	HP:0004305	Involuntary movements	0	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1		19
HP:0004305	HP:0004305	Involuntary movements	0	ATXN1 CL E G H	6310	10548	ORPHA:98755	Spinocerebellar ataxia type 1		19
HP:0004305	HP:0004305	Involuntary movements	0	ATXN10 CL E G H	25814	10549	OMIM:603516	Spinocerebellar ataxia 10		9
HP:0004305	HP:0004305	Involuntary movements	0	ATXN10 CL E G H	25814	10549	ORPHA:98761	Spinocerebellar ataxia type 10		9
HP:0004305	HP:0004305	Involuntary movements	0	ATXN2 CL E G H	6311	10555	OMIM:168600	Parkinson disease, late-onset		11
HP:0004305	HP:0004305	Involuntary movements	0	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2		11
HP:0004305	HP:0004305	Involuntary movements	0	ATXN2 CL E G H	6311	10555	ORPHA:98756	Spinocerebellar ataxia type 2		11
HP:0004305	HP:0004305	Involuntary movements	0	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease		14
HP:0004305	HP:0004305	Involuntary movements	0	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1		14
HP:0004305	HP:0004305	Involuntary movements	0	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2		14
HP:0004305	HP:0004305	Involuntary movements	0	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3		14
HP:0004305	HP:0004305	Involuntary movements	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:0004305	HP:0004305	Involuntary movements	0	ATXN8 CL E G H	724066	32925	OMIM:608768	Spinocerebellar ataxia 8		1
HP:0004305	HP:0004305	Involuntary movements	0	ATXN8OS CL E G H	6315	10561	OMIM:168600	Parkinson disease, late-onset		1
HP:0004305	HP:0004305	Involuntary movements	0	ATXN8OS CL E G H	6315	10561	OMIM:608768	Spinocerebellar ataxia 8		1
HP:0004305	HP:0004305	Involuntary movements	0	AUH CL E G H	549	890	OMIM:250950	3-methylglutaconic aciduria, type I		49
HP:0004305	HP:0004305	Involuntary movements	0	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency		61
HP:0004305	HP:0004305	Involuntary movements	0	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome		28
HP:0004305	HP:0004305	Involuntary movements	0	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome		34
HP:0004305	HP:0004305	Involuntary movements	0	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma		184
HP:0004305	HP:0004305	Involuntary movements	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0004305	HP:0004305	Involuntary movements	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0004305	HP:0004305	Involuntary movements	0	BCORL1 CL E G H	63035	25657	OMIM:301029	Shukla-Vernon syndrome		17
HP:0004305	HP:0004305	Involuntary movements	0	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome		5
HP:0004305	HP:0004305	Involuntary movements	0	BEAN1 CL E G H	146227	24160	ORPHA:217012	Spinocerebellar ataxia type 31		1
HP:0004305	HP:0004305	Involuntary movements	0	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant		46
HP:0004305	HP:0004305	Involuntary movements	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0004305	HP:0004305	Involuntary movements	0	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia		14
HP:0004305	HP:0004305	Involuntary movements	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1		276
HP:0004305	HP:0004305	Involuntary movements	0	BRAT1 CL E G H	221927	21701	OMIM:618056	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures		20
HP:0004305	HP:0004305	Involuntary movements	0	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal		20
HP:0004305	HP:0004305	Involuntary movements	0	BSCL2 CL E G H	26580	15832	ORPHA:100998	Autosomal dominant spastic paraplegia type 17		105
HP:0004305	HP:0004305	Involuntary movements	0	BSCL2 CL E G H	26580	15832	OMIM:615924	Encephalopathy, progressive, with or without lipodystrophy		105
HP:0004305	HP:0004305	Involuntary movements	0	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy		105
HP:0004305	HP:0004305	Involuntary movements	0	BSCL2 CL E G H	26580	15832	OMIM:270685	Spastic paraplegia 17		105
HP:0004305	HP:0004305	Involuntary movements	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0004305	HP:0004305	Involuntary movements	0	C19ORF12 CL E G H	83636	25443	ORPHA:289560	Mitochondrial membrane protein-associated neurodegeneration		114
HP:0004305	HP:0004305	Involuntary movements	0	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4		114
HP:0004305	HP:0004305	Involuntary movements	0	C9ORF72 CL E G H	203228	28337	ORPHA:275864	Behavioral variant of frontotemporal dementia		56
HP:0004305	HP:0004305	Involuntary movements	0	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease		56
HP:0004305	HP:0004305	Involuntary movements	0	C9ORF72 CL E G H	203228	28337	ORPHA:401901	Huntington disease-like syndrome due to C9ORF72 expansions		56
HP:0004305	HP:0004305	Involuntary movements	0	CA8 CL E G H	767	1382	OMIM:613227	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome3		8
HP:0004305	HP:0004305	Involuntary movements	0	CABP4 CL E G H	57010	1386	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040282 - Frequent	94
HP:0004305	HP:0004305	Involuntary movements	0	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood		449
HP:0004305	HP:0004305	Involuntary movements	0	CACNA1A CL E G H	773	1388	OMIM:617106	Epileptic encephalopathy, early infantile, 42		449
HP:0004305	HP:0004305	Involuntary movements	0	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent	449
HP:0004305	HP:0004305	Involuntary movements	0	CACNA1A CL E G H	773	1388	ORPHA:2382	Lennox-Gastaut syndrome		449
HP:0004305	HP:0004305	Involuntary movements	0	CACNA1A CL E G H	773	1388	OMIM:141500	Migraine, familial hemiplegic, 1		449
HP:0004305	HP:0004305	Involuntary movements	0	CACNA1A CL E G H	773	1388	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	449
HP:0004305	HP:0004305	Involuntary movements	0	CACNA1A CL E G H	773	1388	ORPHA:98758	Spinocerebellar ataxia type 6		449
HP:0004305	HP:0004305	Involuntary movements	0	CACNA1B CL E G H	774	1389	OMIM:618497	Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements		5
HP:0004305	HP:0004305	Involuntary movements	0	CACNA1B CL E G H	774	1389	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	5
HP:0004305	HP:0004305	Involuntary movements	0	CACNA1C CL E G H	775	1390	OMIM:620029			572
HP:0004305	HP:0004305	Involuntary movements	0	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities		51
HP:0004305	HP:0004305	Involuntary movements	0	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome		51
HP:0004305	HP:0004305	Involuntary movements	0	CACNA1E CL E G H	777	1392	OMIM:618285	Developmental and epileptic encephalopathy 69		11
HP:0004305	HP:0004305	Involuntary movements	0	CACNA1G CL E G H	8913	1394	OMIM:616795	Spinocerebellar ataxia 42		32
HP:0004305	HP:0004305	Involuntary movements	0	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42		32
HP:0004305	HP:0004305	Involuntary movements	0	CACNA1H CL E G H	8912	1395	ORPHA:64280	Childhood absence epilepsy		75
HP:0004305	HP:0004305	Involuntary movements	0	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis		247
HP:0004305	HP:0004305	Involuntary movements	0	CACNA2D1 CL E G H	781	1399	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	59
HP:0004305	HP:0004305	Involuntary movements	0	CACNA2D2 CL E G H	9254	1400	OMIM:618501	Cerebellar atrophy with seizures and variable developmental delay		48
HP:0004305	HP:0004305	Involuntary movements	0	CACNB4 CL E G H	785	1404	OMIM:607682	Epilepsy, idiopathic generalized, susceptibility to, 9		146
HP:0004305	HP:0004305	Involuntary movements	0	CACNB4 CL E G H	785	1404	OMIM:613855	Episodic ataxia, type 5		146
HP:0004305	HP:0004305	Involuntary movements	0	CACNB4 CL E G H	785	1404	ORPHA:307	Juvenile myoclonic epilepsy		146
HP:0004305	HP:0004305	Involuntary movements	0	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53		1
HP:0004305	HP:0004305	Involuntary movements	0	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation		34
HP:0004305	HP:0004305	Involuntary movements	0	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability		34
HP:0004305	HP:0004305	Involuntary movements	0	CAPN1 CL E G H	823	1476	ORPHA:488594	Autosomal recessive spastic paraplegia type 76		4
HP:0004305	HP:0004305	Involuntary movements	0	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0004305	HP:0004305	Involuntary movements	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0004305	HP:0004305	Involuntary movements	0	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27	HP:0040283 - Occasional	35
HP:0004305	HP:0004305	Involuntary movements	0	CARS2 CL E G H	79587	25695	OMIM:616672	Combined oxidative phosphorylation deficiency 27		35
HP:0004305	HP:0004305	Involuntary movements	0	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy		118
HP:0004305	HP:0004305	Involuntary movements	0	CASR CL E G H	846	1514	ORPHA:428	Autosomal dominant hypocalcemia		272
HP:0004305	HP:0004305	Involuntary movements	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome		3
HP:0004305	HP:0004305	Involuntary movements	0	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7		11
HP:0004305	HP:0004305	Involuntary movements	0	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome		1
HP:0004305	HP:0004305	Involuntary movements	0	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect		247
HP:0004305	HP:0004305	Involuntary movements	0	CCDC141 CL E G H	285025	26821	ORPHA:478	Kallmann syndrome
HP:0004305	HP:0004305	Involuntary movements	0	CCDC88A CL E G H	55704	25523	OMIM:617507	Peho-Like syndrome		1
HP:0004305	HP:0004305	Involuntary movements	0	CCDC88C CL E G H	440193	19967	OMIM:616053	Spinocerebellar ataxia 40		54
HP:0004305	HP:0004305	Involuntary movements	0	CCDC88C CL E G H	440193	19967	ORPHA:423275	Spinocerebellar ataxia type 40		54
HP:0004305	HP:0004305	Involuntary movements	0	CCNF CL E G H	899	1591	OMIM:619141	FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 5; FTDALS5
HP:0004305	HP:0004305	Involuntary movements	0	CCT5 CL E G H	22948	1618	ORPHA:139578	Mutilating hereditary sensory neuropathy with spastic paraplegia		56
HP:0004305	HP:0004305	Involuntary movements	0	CCT5 CL E G H	22948	1618	OMIM:256840	Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive		56
HP:0004305	HP:0004305	Involuntary movements	0	CD28 CL E G H	940	1653	ORPHA:3162	Sézary syndrome
HP:0004305	HP:0004305	Involuntary movements	0	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM		33
HP:0004305	HP:0004305	Involuntary movements	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0004305	HP:0004305	Involuntary movements	0	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma		636
HP:0004305	HP:0004305	Involuntary movements	0	CDK19 CL E G H	23097	19338	OMIM:618916	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87
HP:0004305	HP:0004305	Involuntary movements	0	CDK19 CL E G H	23097	19338	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0004305	HP:0004305	Involuntary movements	0	CDKL5 CL E G H	6792	11411	ORPHA:3095	Atypical Rett syndrome	HP:0040281 - Very frequent	405
HP:0004305	HP:0004305	Involuntary movements	0	CDKL5 CL E G H	6792	11411	ORPHA:505652	CDKL5-deficiency disorder		405
HP:0004305	HP:0004305	Involuntary movements	0	CDKL5 CL E G H	6792	11411	OMIM:300672	Developmental and epileptic encephalopathy 2		405
HP:0004305	HP:0004305	Involuntary movements	0	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy		405
HP:0004305	HP:0004305	Involuntary movements	0	CDKL5 CL E G H	6792	11411	ORPHA:3451	Infantile spasms syndrome		405
HP:0004305	HP:0004305	Involuntary movements	0	CELF2 CL E G H	10659	2550	OMIM:619561	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97; DEE97
HP:0004305	HP:0004305	Involuntary movements	0	CELF2 CL E G H	10659	2550	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0004305	HP:0004305	Involuntary movements	0	CEP104 CL E G H	9731	24866	OMIM:619988			5
HP:0004305	HP:0004305	Involuntary movements	0	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome		5
HP:0004305	HP:0004305	Involuntary movements	0	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome		7
HP:0004305	HP:0004305	Involuntary movements	0	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect		7
HP:0004305	HP:0004305	Involuntary movements	0	CEP126 CL E G H	57562	29264	ORPHA:65684	Monomelic amyotrophy
HP:0004305	HP:0004305	Involuntary movements	0	CEP152 CL E G H	22995	29298	OMIM:614852	Microcephaly 9, primary, autosomal recessive		146
HP:0004305	HP:0004305	Involuntary movements	0	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome		90
HP:0004305	HP:0004305	Involuntary movements	0	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect		90
HP:0004305	HP:0004305	Involuntary movements	0	CEP85L CL E G H	387119	21638	ORPHA:572013	Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome		1
HP:0004305	HP:0004305	Involuntary movements	0	CERS1 CL E G H	10715	14253	OMIM:616230	Epilepsy, progressive myoclonic, 8		1
HP:0004305	HP:0004305	Involuntary movements	0	CERT1 CL E G H	10087	2205	OMIM:616351	Mental retardation, autosomal dominant 34
HP:0004305	HP:0004305	Involuntary movements	0	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40		16
HP:0004305	HP:0004305	Involuntary movements	0	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease		11
HP:0004305	HP:0004305	Involuntary movements	0	CHCHD10 CL E G H	400916	15559	ORPHA:276435	Lower motor neuron syndrome with late-adult onset		11
HP:0004305	HP:0004305	Involuntary movements	0	CHCHD10 CL E G H	400916	15559	OMIM:615048	Spinal muscular atrophy, Jokela type		11
HP:0004305	HP:0004305	Involuntary movements	0	CHCHD2 CL E G H	51142	21645	OMIM:616710	Parkinson disease 22, autosomal dominant		3
HP:0004305	HP:0004305	Involuntary movements	0	CHD1 CL E G H	1105	1915	ORPHA:529965	Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome		2
HP:0004305	HP:0004305	Involuntary movements	0	CHD2 CL E G H	1106	1917	ORPHA:2382	Lennox-Gastaut syndrome		227
HP:0004305	HP:0004305	Involuntary movements	0	CHD2 CL E G H	1106	1917	ORPHA:1942	Myoclonic-astatic epilepsy		227
HP:0004305	HP:0004305	Involuntary movements	0	CHD3 CL E G H	1107	1918	OMIM:618205	Snijders blok-campeau syndrome		2
HP:0004305	HP:0004305	Involuntary movements	0	CHD7 CL E G H	55636	20626	ORPHA:478	Kallmann syndrome		515
HP:0004305	HP:0004305	Involuntary movements	0	CHD8 CL E G H	57680	20153	OMIM:615032	AUTISM, SUSCEPTIBILITY TO, 18; AUTS18		72
HP:0004305	HP:0004305	Involuntary movements	0	CHKA CL E G H	1119	1937	OMIM:620023
HP:0004305	HP:0004305	Involuntary movements	0	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8		19
HP:0004305	HP:0004305	Involuntary movements	0	CHMP2B CL E G H	25978	24537	ORPHA:275864	Behavioral variant of frontotemporal dementia		42
HP:0004305	HP:0004305	Involuntary movements	0	CHMP2B CL E G H	25978	24537	OMIM:600795	Frontotemporal dementia and/or amytrophic lateral sclerosis 7		42
HP:0004305	HP:0004305	Involuntary movements	0	CHRNA2 CL E G H	1135	1956	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040282 - Frequent	188
HP:0004305	HP:0004305	Involuntary movements	0	CHRNA4 CL E G H	1137	1958	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040282 - Frequent	225
HP:0004305	HP:0004305	Involuntary movements	0	CHRNB2 CL E G H	1141	1962	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040282 - Frequent	88
HP:0004305	HP:0004305	Involuntary movements	0	CIC CL E G H	23152	14214	OMIM:617600	Mental retardation, autosomal dominant 45		39
HP:0004305	HP:0004305	Involuntary movements	0	CILK1 CL E G H	22858	21219	ORPHA:307	Juvenile myoclonic epilepsy
HP:0004305	HP:0004305	Involuntary movements	0	CIZ1 CL E G H	25792	16744	ORPHA:420492	Adult-onset cervical dystonia, DYT23 type		16
HP:0004305	HP:0004305	Involuntary movements	0	CLCN2 CL E G H	1181	2020	ORPHA:307	Juvenile myoclonic epilepsy		44
HP:0004305	HP:0004305	Involuntary movements	0	CLCN2 CL E G H	1181	2020	OMIM:615651	Leukoencephalopathy with ataxia		44
HP:0004305	HP:0004305	Involuntary movements	0	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0004305	HP:0004305	Involuntary movements	0	CLCN4 CL E G H	1183	2022	ORPHA:485350	CLCN4-related X-linked intellectual disability syndrome		45
HP:0004305	HP:0004305	Involuntary movements	0	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis		102
HP:0004305	HP:0004305	Involuntary movements	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0004305	HP:0004305	Involuntary movements	0	CLN3 CL E G H	1201	2074	OMIM:204200	Ceroid lipofuscinosis, neuronal, 3		216
HP:0004305	HP:0004305	Involuntary movements	0	CLN5 CL E G H	1203	2076	OMIM:256731	Ceroid lipofuscinosis, neuronal, 5		141
HP:0004305	HP:0004305	Involuntary movements	0	CLN5 CL E G H	1203	2076	ORPHA:228360	CLN5 disease		141
HP:0004305	HP:0004305	Involuntary movements	0	CLN6 CL E G H	54982	2077	OMIM:204300	Ceroid lipofuscinosis, neuronal, 4A, autosomal recessive		143
HP:0004305	HP:0004305	Involuntary movements	0	CLN8 CL E G H	2055	2079	OMIM:600143	Ceroid lipofuscinosis, neuronal, 8		111
HP:0004305	HP:0004305	Involuntary movements	0	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7		38
HP:0004305	HP:0004305	Involuntary movements	0	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia		38
HP:0004305	HP:0004305	Involuntary movements	0	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56		1
HP:0004305	HP:0004305	Involuntary movements	0	CLTC CL E G H	1213	2092	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	1
HP:0004305	HP:0004305	Involuntary movements	0	CNKSR2 CL E G H	22866	19701	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	18
HP:0004305	HP:0004305	Involuntary movements	0	CNPY3 CL E G H	10695	11968	ORPHA:3451	Infantile spasms syndrome
HP:0004305	HP:0004305	Involuntary movements	0	CNTN2 CL E G H	6900	2172	ORPHA:86814	Benign adult familial myoclonic epilepsy		9
HP:0004305	HP:0004305	Involuntary movements	0	CNTN2 CL E G H	6900	2172	OMIM:615400	Epilepsy, familial adult myoclonic, 5		9
HP:0004305	HP:0004305	Involuntary movements	0	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy		518
HP:0004305	HP:0004305	Involuntary movements	0	CNTNAP2 CL E G H	26047	13830	OMIM:610042	Pitt-Hopkins-Like syndrome 1		518
HP:0004305	HP:0004305	Involuntary movements	0	COA7 CL E G H	65260	25716	OMIM:618387	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3
HP:0004305	HP:0004305	Involuntary movements	0	COG8 CL E G H	84342	18623	ORPHA:95428	COG8-CDG		39
HP:0004305	HP:0004305	Involuntary movements	0	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita		3
HP:0004305	HP:0004305	Involuntary movements	0	COL6A3 CL E G H	1293	2213	OMIM:616411	Dystonia 27		702
HP:0004305	HP:0004305	Involuntary movements	0	COL6A3 CL E G H	1293	2213	ORPHA:464440	Primary dystonia, DYT27 type		702
HP:0004305	HP:0004305	Involuntary movements	0	COQ2 CL E G H	27235	25223	OMIM:607426	Coenzyme Q10 deficiency, primary, 1		54
HP:0004305	HP:0004305	Involuntary movements	0	COQ2 CL E G H	27235	25223	OMIM:146500	Multiple system atrophy 1, susceptibility to		54
HP:0004305	HP:0004305	Involuntary movements	0	COQ2 CL E G H	27235	25223	ORPHA:227510	Multiple system atrophy, cerebellar type		54
HP:0004305	HP:0004305	Involuntary movements	0	COQ2 CL E G H	27235	25223	ORPHA:98933	Multiple system atrophy, parkinsonian type		54
HP:0004305	HP:0004305	Involuntary movements	0	COQ5 CL E G H	84274	28722	OMIM:619028	COENZYME Q10 DEFICIENCY, PRIMARY, 9; COQ10D9
HP:0004305	HP:0004305	Involuntary movements	0	COQ8A CL E G H	56997	16812	ORPHA:139485	Autosomal recessive ataxia due to ubiquinone deficiency		136
HP:0004305	HP:0004305	Involuntary movements	0	COQ8A CL E G H	56997	16812	OMIM:612016	Coenzyme Q10 deficiency, primary, 4		136
HP:0004305	HP:0004305	Involuntary movements	0	COX1 CL E G H	4512	7419	ORPHA:104	Leber hereditary optic neuropathy
HP:0004305	HP:0004305	Involuntary movements	0	COX1 CL E G H	4512	7419	ORPHA:550	MELAS
HP:0004305	HP:0004305	Involuntary movements	0	COX2 CL E G H	4513	7421	ORPHA:550	MELAS
HP:0004305	HP:0004305	Involuntary movements	0	COX20 CL E G H	116228	26970	OMIM:619054	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11		25
HP:0004305	HP:0004305	Involuntary movements	0	COX3 CL E G H	4514	7422	ORPHA:104	Leber hereditary optic neuropathy
HP:0004305	HP:0004305	Involuntary movements	0	COX3 CL E G H	4514	7422	OMIM:535000	Leber optic atrophy
HP:0004305	HP:0004305	Involuntary movements	0	COX3 CL E G H	4514	7422	ORPHA:550	MELAS
HP:0004305	HP:0004305	Involuntary movements	0	COX4I1 CL E G H	1327	2265	OMIM:619060	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0004305	HP:0004305	Involuntary movements	0	CP CL E G H	1356	2295	ORPHA:48818	Aceruloplasminemia	HP:0040282 - Frequent	115
HP:0004305	HP:0004305	Involuntary movements	0	CP CL E G H	1356	2295	OMIM:604290	ACERULOPLASMINEMIA		115
HP:0004305	HP:0004305	Involuntary movements	0	CPLANE1 CL E G H	65250	25801	ORPHA:475	Joubert syndrome
HP:0004305	HP:0004305	Involuntary movements	0	CPLANE1 CL E G H	65250	25801	ORPHA:65684	Monomelic amyotrophy
HP:0004305	HP:0004305	Involuntary movements	0	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0004305	HP:0004305	Involuntary movements	0	CPLX1 CL E G H	10815	2309	ORPHA:352582	Familial infantile myoclonic epilepsy		1
HP:0004305	HP:0004305	Involuntary movements	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0004305	HP:0004305	Involuntary movements	0	CRAT CL E G H	1384	2342	OMIM:617917	Neurodegeneration with brain iron accumulation 8
HP:0004305	HP:0004305	Involuntary movements	0	CRB1 CL E G H	23418	2343	OMIM:613835	Leber congenital amaurosis 8		156
HP:0004305	HP:0004305	Involuntary movements	0	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion		291
HP:0004305	HP:0004305	Involuntary movements	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations		291
HP:0004305	HP:0004305	Involuntary movements	0	CRH CL E G H	1392	2355	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040282 - Frequent	1
HP:0004305	HP:0004305	Involuntary movements	0	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0004305	HP:0004305	Involuntary movements	0	CSPP1 CL E G H	79848	26193	ORPHA:475	Joubert syndrome		57
HP:0004305	HP:0004305	Involuntary movements	0	CSTB CL E G H	1476	2482	OMIM:254800	Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)		51
HP:0004305	HP:0004305	Involuntary movements	0	CSTB CL E G H	1476	2482	ORPHA:308	Progressive myoclonic epilepsy type 1		51
HP:0004305	HP:0004305	Involuntary movements	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0004305	HP:0004305	Involuntary movements	0	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts		160
HP:0004305	HP:0004305	Involuntary movements	0	CTDP1 CL E G H	9150	2498	OMIM:604168	Congenital cataracts, facial dysmorphism, and neuropathy		17
HP:0004305	HP:0004305	Involuntary movements	0	CTDP1 CL E G H	9150	2498	ORPHA:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome		17
HP:0004305	HP:0004305	Involuntary movements	0	CTH CL E G H	1491	2501	ORPHA:212	Cystathioninuria		38
HP:0004305	HP:0004305	Involuntary movements	0	CTLA4 CL E G H	1493	2505	ORPHA:3162	Sézary syndrome		10
HP:0004305	HP:0004305	Involuntary movements	0	CTNND2 CL E G H	1501	2516	ORPHA:86814	Benign adult familial myoclonic epilepsy		15
HP:0004305	HP:0004305	Involuntary movements	0	CTSF CL E G H	8722	2531	OMIM:615362	Ceroid lipofuscinosis, neuronal, 13		20
HP:0004305	HP:0004305	Involuntary movements	0	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type		38
HP:0004305	HP:0004305	Involuntary movements	0	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type		38
HP:0004305	HP:0004305	Involuntary movements	0	CUX2 CL E G H	23316	19347	OMIM:618141	Epileptic encephalopathy, early infantile, 67
HP:0004305	HP:0004305	Involuntary movements	0	CUX2 CL E G H	23316	19347	ORPHA:2382	Lennox-Gastaut syndrome
HP:0004305	HP:0004305	Involuntary movements	0	CWF19L1 CL E G H	55280	25613	ORPHA:453521	Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency		9
HP:0004305	HP:0004305	Involuntary movements	0	CWF19L1 CL E G H	55280	25613	OMIM:616127	Spinocerebellar ataxia, autosomal recessive 17		9
HP:0004305	HP:0004305	Involuntary movements	0	CYB5A CL E G H	1528	2570	ORPHA:621	Hereditary methemoglobinemia		2
HP:0004305	HP:0004305	Involuntary movements	0	CYB5R3 CL E G H	1727	2873	ORPHA:621	Hereditary methemoglobinemia		24
HP:0004305	HP:0004305	Involuntary movements	0	CYFIP2 CL E G H	26999	13760	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	1
HP:0004305	HP:0004305	Involuntary movements	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis		114
HP:0004305	HP:0004305	Involuntary movements	0	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis		114
HP:0004305	HP:0004305	Involuntary movements	0	CYP7B1 CL E G H	9420	2652	ORPHA:100986	Autosomal recessive spastic paraplegia type 5A		57
HP:0004305	HP:0004305	Involuntary movements	0	CYP7B1 CL E G H	9420	2652	OMIM:270800	Spastic paraplegia 5A, autosomal recessive		57
HP:0004305	HP:0004305	Involuntary movements	0	CYTB CL E G H	4519	7427	ORPHA:104	Leber hereditary optic neuropathy
HP:0004305	HP:0004305	Involuntary movements	0	CYTB CL E G H	4519	7427	OMIM:535000	Leber optic atrophy
HP:0004305	HP:0004305	Involuntary movements	0	DAB1 CL E G H	1600	2661	OMIM:615945	Spinocerebellar ataxia 37		4
HP:0004305	HP:0004305	Involuntary movements	0	DAB1 CL E G H	1600	2661	ORPHA:363710	Spinocerebellar ataxia type 37		4
HP:0004305	HP:0004305	Involuntary movements	0	DALRD3 CL E G H	55152	25536	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0004305	HP:0004305	Involuntary movements	0	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome		60
HP:0004305	HP:0004305	Involuntary movements	0	DARS2 CL E G H	55157	25538	OMIM:611105	Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation		60
HP:0004305	HP:0004305	Involuntary movements	0	DCAF17 CL E G H	80067	25784	OMIM:241080	Woodhouse-Sakati syndrome		87
HP:0004305	HP:0004305	Involuntary movements	0	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome		87
HP:0004305	HP:0004305	Involuntary movements	0	DCC CL E G H	1630	2701	ORPHA:478	Kallmann syndrome		36
HP:0004305	HP:0004305	Involuntary movements	0	DCTN1 CL E G H	1639	2711	OMIM:105400	Amyotrophic lateral sclerosis 1		86
HP:0004305	HP:0004305	Involuntary movements	0	DCTN1 CL E G H	1639	2711	ORPHA:178509	Perry syndrome		86
HP:0004305	HP:0004305	Involuntary movements	0	DCTN1 CL E G H	1639	2711	OMIM:168605	Perry syndrome		86
HP:0004305	HP:0004305	Involuntary movements	0	DDC CL E G H	1644	2719	OMIM:608643	Aromatic L-amino acid decarboxylase deficiency		43
HP:0004305	HP:0004305	Involuntary movements	0	DDOST CL E G H	1650	2728	ORPHA:300536	DDOST-CDG		62
HP:0004305	HP:0004305	Involuntary movements	0	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0004305	HP:0004305	Involuntary movements	0	DEAF1 CL E G H	10522	14677	OMIM:617171	Dyskinesia, seizures, and intellectual developmental disorder	.	33
HP:0004305	HP:0004305	Involuntary movements	0	DEAF1 CL E G H	10522	14677	ORPHA:468620	Intellectual disability-epilepsy-extrapyramidal syndrome	HP:0040283 - Occasional	33
HP:0004305	HP:0004305	Involuntary movements	0	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome		33
HP:0004305	HP:0004305	Involuntary movements	0	DENND5A CL E G H	23258	19344	OMIM:617281	Epileptic encephalopathy, early infantile, 49		6
HP:0004305	HP:0004305	Involuntary movements	0	DEPDC5 CL E G H	9681	18423	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040282 - Frequent	172
HP:0004305	HP:0004305	Involuntary movements	0	DHDDS CL E G H	79947	20603	OMIM:617836	Developmental delay and seizures with or without movement abnormalities		47
HP:0004305	HP:0004305	Involuntary movements	0	DHDDS CL E G H	79947	20603	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	47
HP:0004305	HP:0004305	Involuntary movements	0	DHFR CL E G H	1719	2861	OMIM:613839	Megaloblastic anemia due to dihydrofolate reductase deficiency		7
HP:0004305	HP:0004305	Involuntary movements	0	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0004305	HP:0004305	Involuntary movements	0	DHX30 CL E G H	22907	16716	OMIM:617804	Neurodevelopmental disorder with severe motor impairment and absent language	.	4
HP:0004305	HP:0004305	Involuntary movements	0	DLAT CL E G H	1737	2896	OMIM:245348	Pyruvate dehydrogenase E2 deficiency		82
HP:0004305	HP:0004305	Involuntary movements	0	DLL1 CL E G H	28514	2908	OMIM:618709	NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES; NEDBAS		3
HP:0004305	HP:0004305	Involuntary movements	0	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0004305	HP:0004305	Involuntary movements	0	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy		3
HP:0004305	HP:0004305	Involuntary movements	0	DNAJC13 CL E G H	23317	30343	ORPHA:411602	Hereditary late-onset Parkinson disease		2
HP:0004305	HP:0004305	Involuntary movements	0	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia		25
HP:0004305	HP:0004305	Involuntary movements	0	DNAJC30 CL E G H	84277	16410	ORPHA:104	Leber hereditary optic neuropathy
HP:0004305	HP:0004305	Involuntary movements	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0004305	HP:0004305	Involuntary movements	0	DNAJC5 CL E G H	80331	16235	OMIM:162350	Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant		155
HP:0004305	HP:0004305	Involuntary movements	0	DNAJC6 CL E G H	9829	15469	ORPHA:391411	Atypical juvenile parkinsonism	HP:0040282 - Frequent	6
HP:0004305	HP:0004305	Involuntary movements	0	DNAJC6 CL E G H	9829	15469	OMIM:615528	Parkinson disease 19a, juvenile-onset		6
HP:0004305	HP:0004305	Involuntary movements	0	DNAJC6 CL E G H	9829	15469	ORPHA:2828	Young-onset Parkinson disease		6
HP:0004305	HP:0004305	Involuntary movements	0	DNM1 CL E G H	1759	2972	ORPHA:2382	Lennox-Gastaut syndrome		72
HP:0004305	HP:0004305	Involuntary movements	0	DNM1 CL E G H	1759	2972	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	72
HP:0004305	HP:0004305	Involuntary movements	0	DNM1L CL E G H	10059	2973	ORPHA:330050	DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect		94
HP:0004305	HP:0004305	Involuntary movements	0	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1		94
HP:0004305	HP:0004305	Involuntary movements	0	DNMT1 CL E G H	1786	2976	ORPHA:314404	Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome		145
HP:0004305	HP:0004305	Involuntary movements	0	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		44
HP:0004305	HP:0004305	Involuntary movements	0	DOCK7 CL E G H	85440	19190	ORPHA:411986	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome		11
HP:0004305	HP:0004305	Involuntary movements	0	DPAGT1 CL E G H	1798	2995	OMIM:608093	Congenital disorder of glycosylation, type Ij		38
HP:0004305	HP:0004305	Involuntary movements	0	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG		38
HP:0004305	HP:0004305	Involuntary movements	0	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0004305	HP:0004305	Involuntary movements	0	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE		27
HP:0004305	HP:0004305	Involuntary movements	0	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0004305	HP:0004305	Involuntary movements	0	DRD2 CL E G H	1813	3023	ORPHA:36899	Myoclonus-dystonia syndrome		16
HP:0004305	HP:0004305	Involuntary movements	0	DRD3 CL E G H	1814	3024	OMIM:190300	Tremor, hereditary essential, 1		21
HP:0004305	HP:0004305	Involuntary movements	0	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0004305	HP:0004305	Involuntary movements	0	DUSP6 CL E G H	1848	3072	ORPHA:478	Kallmann syndrome		4
HP:0004305	HP:0004305	Involuntary movements	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion		134
HP:0004305	HP:0004305	Involuntary movements	0	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation		134
HP:0004305	HP:0004305	Involuntary movements	0	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7		134
HP:0004305	HP:0004305	Involuntary movements	0	DYSF CL E G H	8291	3097	ORPHA:268	Dysferlin-related limb-girdle muscular dystrophy R2		600
HP:0004305	HP:0004305	Involuntary movements	0	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0004305	HP:0004305	Involuntary movements	0	EEF1A2 CL E G H	1917	3192	OMIM:616393	Mental retardation, autosomal dominant 38		60
HP:0004305	HP:0004305	Involuntary movements	0	EEF1A2 CL E G H	1917	3192	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	60
HP:0004305	HP:0004305	Involuntary movements	0	EFHC1 CL E G H	114327	16406	ORPHA:1941	Juvenile absence epilepsy		153
HP:0004305	HP:0004305	Involuntary movements	0	EFHC1 CL E G H	114327	16406	ORPHA:307	Juvenile myoclonic epilepsy		153
HP:0004305	HP:0004305	Involuntary movements	0	EFHC1 CL E G H	114327	16406	OMIM:254770	Myoclonic epilepsy, juvenile, susceptibility to, 1		153
HP:0004305	HP:0004305	Involuntary movements	0	EGR2 CL E G H	1959	3239	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		58
HP:0004305	HP:0004305	Involuntary movements	0	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome		223
HP:0004305	HP:0004305	Involuntary movements	0	EIF2AK2 CL E G H	5610	9437	OMIM:618877	LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0004305	HP:0004305	Involuntary movements	0	EIF4G1 CL E G H	1981	3296	ORPHA:411602	Hereditary late-onset Parkinson disease		2
HP:0004305	HP:0004305	Involuntary movements	0	EIF4G1 CL E G H	1981	3296	OMIM:614251	Parkinson disease 18		2
HP:0004305	HP:0004305	Involuntary movements	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0004305	HP:0004305	Involuntary movements	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	172
HP:0004305	HP:0004305	Involuntary movements	0	ELOVL1 CL E G H	64834	14418	OMIM:618527	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0004305	HP:0004305	Involuntary movements	0	ELOVL4 CL E G H	6785	14415	OMIM:133190	Spinocerebellar ataxia 34		62
HP:0004305	HP:0004305	Involuntary movements	0	ELOVL5 CL E G H	60481	21308	ORPHA:423296	Spinocerebellar ataxia type 38		4
HP:0004305	HP:0004305	Involuntary movements	0	ELP2 CL E G H	55250	18248	OMIM:617270	Mental retardation, autosomal recessive 58		6
HP:0004305	HP:0004305	Involuntary movements	0	EMC10 CL E G H	284361	27609	OMIM:619264	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES; NEDDFAS
HP:0004305	HP:0004305	Involuntary movements	0	EMILIN1 CL E G H	11117	19880	OMIM:620080			2
HP:0004305	HP:0004305	Involuntary movements	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency		250
HP:0004305	HP:0004305	Involuntary movements	0	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		112
HP:0004305	HP:0004305	Involuntary movements	0	EPM2A CL E G H	7957	3413	ORPHA:501	Lafora disease		83
HP:0004305	HP:0004305	Involuntary movements	0	EPM2A CL E G H	7957	3413	OMIM:254780	Myoclonic epilepsy of lafora		83
HP:0004305	HP:0004305	Involuntary movements	0	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15
HP:0004305	HP:0004305	Involuntary movements	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy		106
HP:0004305	HP:0004305	Involuntary movements	0	ERCC2 CL E G H	2068	3434	OMIM:278730	Xeroderma pigmentosum, complementation group D		106
HP:0004305	HP:0004305	Involuntary movements	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy		54
HP:0004305	HP:0004305	Involuntary movements	0	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1		158
HP:0004305	HP:0004305	Involuntary movements	0	ERCC4 CL E G H	2072	3436	OMIM:278760	Xeroderma pigmentosum, complementation group F		158
HP:0004305	HP:0004305	Involuntary movements	0	ERCC5 CL E G H	2073	3437	OMIM:278780	Xeroderma pigmentosum, complementation group G		83
HP:0004305	HP:0004305	Involuntary movements	0	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1		199
HP:0004305	HP:0004305	Involuntary movements	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3		199
HP:0004305	HP:0004305	Involuntary movements	0	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B		199
HP:0004305	HP:0004305	Involuntary movements	0	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome		199
HP:0004305	HP:0004305	Involuntary movements	0	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A		55
HP:0004305	HP:0004305	Involuntary movements	0	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1		55
HP:0004305	HP:0004305	Involuntary movements	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3		55
HP:0004305	HP:0004305	Involuntary movements	0	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita
HP:0004305	HP:0004305	Involuntary movements	0	ERLIN1 CL E G H	10613	16947	ORPHA:401785	Autosomal recessive spastic paraplegia type 62		2
HP:0004305	HP:0004305	Involuntary movements	0	ERLIN1 CL E G H	10613	16947	OMIM:615681	Spastic paraplegia 62, autosomal recessive		2
HP:0004305	HP:0004305	Involuntary movements	0	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18		18
HP:0004305	HP:0004305	Involuntary movements	0	ERLIN2 CL E G H	11160	1356	ORPHA:280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome		18
HP:0004305	HP:0004305	Involuntary movements	0	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1		38
HP:0004305	HP:0004305	Involuntary movements	0	EXOSC3 CL E G H	51010	17944	OMIM:614678	Pontocerebellar hypoplasia, type 1B		38
HP:0004305	HP:0004305	Involuntary movements	0	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1		4
HP:0004305	HP:0004305	Involuntary movements	0	EXOSC8 CL E G H	11340	17035	OMIM:616081	Pontocerebellar hypoplasia, type 1C		4
HP:0004305	HP:0004305	Involuntary movements	0	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0004305	HP:0004305	Involuntary movements	0	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D
HP:0004305	HP:0004305	Involuntary movements	0	EXT2 CL E G H	2132	3513	OMIM:616682	Seizures, scoliosis, and macrocephaly/microcephaly syndrome		102
HP:0004305	HP:0004305	Involuntary movements	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0004305	HP:0004305	Involuntary movements	0	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35		76
HP:0004305	HP:0004305	Involuntary movements	0	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive		76
HP:0004305	HP:0004305	Involuntary movements	0	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0004305	HP:0004305	Involuntary movements	0	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A		7
HP:0004305	HP:0004305	Involuntary movements	0	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77		36
HP:0004305	HP:0004305	Involuntary movements	0	FARS2 CL E G H	10667	21062	OMIM:614946	Combined oxidative phosphorylation deficiency 14		36
HP:0004305	HP:0004305	Involuntary movements	0	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)		384
HP:0004305	HP:0004305	Involuntary movements	0	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0004305	HP:0004305	Involuntary movements	0	FBXO38 CL E G H	81545	28844	OMIM:615575	Neuronopathy, distal hereditary motor, type IID		1
HP:0004305	HP:0004305	Involuntary movements	0	FBXO7 CL E G H	25793	13586	OMIM:260300	Parkinson disease 15, autosomal recessive early-onset		36
HP:0004305	HP:0004305	Involuntary movements	0	FBXO7 CL E G H	25793	13586	ORPHA:171695	Parkinsonian-pyramidal syndrome		36
HP:0004305	HP:0004305	Involuntary movements	0	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0004305	HP:0004305	Involuntary movements	0	FEZF1 CL E G H	389549	22788	ORPHA:478	Kallmann syndrome		2
HP:0004305	HP:0004305	Involuntary movements	0	FGF12 CL E G H	2257	3668	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	3
HP:0004305	HP:0004305	Involuntary movements	0	FGF13 CL E G H	2258	3670	OMIM:301058	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90		1
HP:0004305	HP:0004305	Involuntary movements	0	FGF13 CL E G H	2258	3670	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	1
HP:0004305	HP:0004305	Involuntary movements	0	FGF14 CL E G H	2259	3671	OMIM:193003	Nystagmus 4, congenital, autosomal dominant		47
HP:0004305	HP:0004305	Involuntary movements	0	FGF14 CL E G H	2259	3671	ORPHA:98764	Spinocerebellar ataxia type 27		47
HP:0004305	HP:0004305	Involuntary movements	0	FGF17 CL E G H	8822	3673	ORPHA:478	Kallmann syndrome		3
HP:0004305	HP:0004305	Involuntary movements	0	FGF8 CL E G H	2253	3686	ORPHA:478	Kallmann syndrome		17
HP:0004305	HP:0004305	Involuntary movements	0	FGFR1 CL E G H	2260	3688	ORPHA:478	Kallmann syndrome		172
HP:0004305	HP:0004305	Involuntary movements	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0004305	HP:0004305	Involuntary movements	0	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		301
HP:0004305	HP:0004305	Involuntary movements	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0004305	HP:0004305	Involuntary movements	0	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		157
HP:0004305	HP:0004305	Involuntary movements	0	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome		332
HP:0004305	HP:0004305	Involuntary movements	0	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome
HP:0004305	HP:0004305	Involuntary movements	0	FLRT3 CL E G H	23767	3762	ORPHA:478	Kallmann syndrome		4
HP:0004305	HP:0004305	Involuntary movements	0	FLVCR1 CL E G H	28982	24682	ORPHA:88628	Posterior column ataxia-retinitis pigmentosa syndrome		111
HP:0004305	HP:0004305	Involuntary movements	0	FMR1 CL E G H	2332	3775	OMIM:300624	Fragile X mental retardation syndrome		30
HP:0004305	HP:0004305	Involuntary movements	0	FMR1 CL E G H	2332	3775	OMIM:300623	Fragile X tremor/ataxia syndrome		30
HP:0004305	HP:0004305	Involuntary movements	0	FMR1 CL E G H	2332	3775	ORPHA:93256	Fragile X-associated tremor/ataxia syndrome		30
HP:0004305	HP:0004305	Involuntary movements	0	FMR1 CL E G H	2332	3775	ORPHA:449291	Symptomatic form of fragile X syndrome in female carriers		30
HP:0004305	HP:0004305	Involuntary movements	0	FOXG1 CL E G H	2290	3811	ORPHA:261144	FOXG1 syndrome due to 14q12 microdeletion		177
HP:0004305	HP:0004305	Involuntary movements	0	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant		177
HP:0004305	HP:0004305	Involuntary movements	0	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome		184
HP:0004305	HP:0004305	Involuntary movements	0	FOXP1 CL E G H	27086	3823	OMIM:613670	Mental retardation with language impairment and with or without autistic features		184
HP:0004305	HP:0004305	Involuntary movements	0	FOXRED1 CL E G H	55572	26927	OMIM:618241	Mitochondrial complex I deficiency, nuclear type 19		61
HP:0004305	HP:0004305	Involuntary movements	0	FRMD5 CL E G H	84978	28214	OMIM:620094
HP:0004305	HP:0004305	Involuntary movements	0	FRMPD4 CL E G H	9758	29007	OMIM:300983	MENTAL RETARDATION, X-LINKED 104; MRX104		32
HP:0004305	HP:0004305	Involuntary movements	0	FRRS1L CL E G H	23732	1362	OMIM:616981	Epileptic encephalopathy, early infantile, 37		4
HP:0004305	HP:0004305	Involuntary movements	0	FTL CL E G H	2512	3999	OMIM:606159	Neurodegeneration with brain iron accumulation 3		33
HP:0004305	HP:0004305	Involuntary movements	0	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy	HP:0040282 - Frequent	33
HP:0004305	HP:0004305	Involuntary movements	0	FUS CL E G H	2521	4010	OMIM:608030	Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia		105
HP:0004305	HP:0004305	Involuntary movements	0	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease		105
HP:0004305	HP:0004305	Involuntary movements	0	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		105
HP:0004305	HP:0004305	Involuntary movements	0	FUS CL E G H	2521	4010	OMIM:614782	TREMOR, HEREDITARY ESSENTIAL, 4; ETM4		105
HP:0004305	HP:0004305	Involuntary movements	0	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia		18
HP:0004305	HP:0004305	Involuntary movements	0	FXR1 CL E G H	8087	4023	OMIM:618823	MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL
HP:0004305	HP:0004305	Involuntary movements	0	FXR1 CL E G H	8087	4023	OMIM:618822	MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF
HP:0004305	HP:0004305	Involuntary movements	0	FZR1 CL E G H	51343	24824	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0004305	HP:0004305	Involuntary movements	0	GABBR2 CL E G H	9568	4507	ORPHA:3095	Atypical Rett syndrome	HP:0040281 - Very frequent	5
HP:0004305	HP:0004305	Involuntary movements	0	GABBR2 CL E G H	9568	4507	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	5
HP:0004305	HP:0004305	Involuntary movements	0	GABRA1 CL E G H	2554	4075	ORPHA:64280	Childhood absence epilepsy		134
HP:0004305	HP:0004305	Involuntary movements	0	GABRA1 CL E G H	2554	4075	ORPHA:33069	Dravet syndrome		134
HP:0004305	HP:0004305	Involuntary movements	0	GABRA1 CL E G H	2554	4075	ORPHA:307	Juvenile myoclonic epilepsy		134
HP:0004305	HP:0004305	Involuntary movements	0	GABRA2 CL E G H	2555	4076	OMIM:618557	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 78; DEE78		4
HP:0004305	HP:0004305	Involuntary movements	0	GABRA2 CL E G H	2555	4076	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	4
HP:0004305	HP:0004305	Involuntary movements	0	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis
HP:0004305	HP:0004305	Involuntary movements	0	GABRA5 CL E G H	2558	4079	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0004305	HP:0004305	Involuntary movements	0	GABRB2 CL E G H	2561	4082	OMIM:617829	Epileptic encephalopathy, infantile or early childhood, 2		44
HP:0004305	HP:0004305	Involuntary movements	0	GABRB2 CL E G H	2561	4082	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	44
HP:0004305	HP:0004305	Involuntary movements	0	GABRB3 CL E G H	2562	4083	ORPHA:64280	Childhood absence epilepsy		57
HP:0004305	HP:0004305	Involuntary movements	0	GABRB3 CL E G H	2562	4083	ORPHA:2382	Lennox-Gastaut syndrome		57
HP:0004305	HP:0004305	Involuntary movements	0	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome		10
HP:0004305	HP:0004305	Involuntary movements	0	GABRD CL E G H	2563	4084	ORPHA:36387	Generalized epilepsy with febrile seizures-plus		10
HP:0004305	HP:0004305	Involuntary movements	0	GABRD CL E G H	2563	4084	ORPHA:307	Juvenile myoclonic epilepsy		10
HP:0004305	HP:0004305	Involuntary movements	0	GABRG2 CL E G H	2566	4087	ORPHA:64280	Childhood absence epilepsy		139
HP:0004305	HP:0004305	Involuntary movements	0	GABRG2 CL E G H	2566	4087	ORPHA:33069	Dravet syndrome		139
HP:0004305	HP:0004305	Involuntary movements	0	GABRG2 CL E G H	2566	4087	ORPHA:36387	Generalized epilepsy with febrile seizures-plus		139
HP:0004305	HP:0004305	Involuntary movements	0	GABRG2 CL E G H	2566	4087	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	139
HP:0004305	HP:0004305	Involuntary movements	0	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease		160
HP:0004305	HP:0004305	Involuntary movements	0	GALC CL E G H	2581	4115	ORPHA:206443	Late-infantile/juvenile Krabbe disease		160
HP:0004305	HP:0004305	Involuntary movements	0	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia		351
HP:0004305	HP:0004305	Involuntary movements	0	GAMT CL E G H	2593	4136	OMIM:612736	Cerebral creatine deficiency syndrome 2		91
HP:0004305	HP:0004305	Involuntary movements	0	GAMT CL E G H	2593	4136	ORPHA:382	Guanidinoacetate methyltransferase deficiency		91
HP:0004305	HP:0004305	Involuntary movements	0	GATAD2B CL E G H	57459	30778	OMIM:615074	Mental retardation, autosomal dominant 18		33
HP:0004305	HP:0004305	Involuntary movements	0	GATAD2B CL E G H	57459	30778	ORPHA:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome		33
HP:0004305	HP:0004305	Involuntary movements	0	GBA1 CL E G H	2629	4177	OMIM:231000	Gaucher disease, type III
HP:0004305	HP:0004305	Involuntary movements	0	GBA1 CL E G H	2629	4177	ORPHA:411602	Hereditary late-onset Parkinson disease
HP:0004305	HP:0004305	Involuntary movements	0	GBA1 CL E G H	2629	4177	OMIM:168600	Parkinson disease, late-onset
HP:0004305	HP:0004305	Involuntary movements	0	GBA2 CL E G H	57704	18986	ORPHA:352641	Autosomal recessive cerebellar ataxia with late-onset spasticity		30
HP:0004305	HP:0004305	Involuntary movements	0	GBA2 CL E G H	57704	18986	ORPHA:320391	Autosomal recessive spastic paraplegia type 46		30
HP:0004305	HP:0004305	Involuntary movements	0	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive		30
HP:0004305	HP:0004305	Involuntary movements	0	GCDH CL E G H	2639	4189	OMIM:231670	Glutaric acidemia I		115
HP:0004305	HP:0004305	Involuntary movements	0	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency		115
HP:0004305	HP:0004305	Involuntary movements	0	GCH1 CL E G H	2643	4193	ORPHA:98808	Autosomal dominant dopa-responsive dystonia		86
HP:0004305	HP:0004305	Involuntary movements	0	GCH1 CL E G H	2643	4193	OMIM:128230	Dystonia, DOPA-responsive, with or without hyperphenylalaninemia		86
HP:0004305	HP:0004305	Involuntary movements	0	GCH1 CL E G H	2643	4193	OMIM:233910	Hyperphenylalaninemia, BH4-deficient, B		86
HP:0004305	HP:0004305	Involuntary movements	0	GCK CL E G H	2645	4195	ORPHA:79299	Hyperinsulinism due to glucokinase deficiency		237
HP:0004305	HP:0004305	Involuntary movements	0	GCSH CL E G H	2653	4208	OMIM:605899	Glycine encephalopathy		5
HP:0004305	HP:0004305	Involuntary movements	0	GFAP CL E G H	2670	4235	OMIM:203450	Alexander disease		188
HP:0004305	HP:0004305	Involuntary movements	0	GFAP CL E G H	2670	4235	ORPHA:363717	Alexander disease type I		188
HP:0004305	HP:0004305	Involuntary movements	0	GFAP CL E G H	2670	4235	ORPHA:363722	Alexander disease type II		188
HP:0004305	HP:0004305	Involuntary movements	0	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39	HP:0040283 - Occasional	43
HP:0004305	HP:0004305	Involuntary movements	0	GFM2 CL E G H	84340	29682	OMIM:618397	Combined oxidative phosphorylation deficiency 39	.	43
HP:0004305	HP:0004305	Involuntary movements	0	GGT1 CL E G H	2678	4250	OMIM:231950	GLUTATHIONURIA
HP:0004305	HP:0004305	Involuntary movements	0	GIGYF2 CL E G H	26058	11960	ORPHA:411602	Hereditary late-onset Parkinson disease		8
HP:0004305	HP:0004305	Involuntary movements	0	GIGYF2 CL E G H	26058	11960	OMIM:607688	PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK11		8
HP:0004305	HP:0004305	Involuntary movements	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0004305	HP:0004305	Involuntary movements	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0004305	HP:0004305	Involuntary movements	0	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1		107
HP:0004305	HP:0004305	Involuntary movements	0	GJB1 CL E G H	2705	4283	ORPHA:101075	X-linked Charcot-Marie-Tooth disease type 1		107
HP:0004305	HP:0004305	Involuntary movements	0	GJB1 CL E G H	2705	4283	ORPHA:1175	X-linked progressive cerebellar ataxia		107
HP:0004305	HP:0004305	Involuntary movements	0	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2		37
HP:0004305	HP:0004305	Involuntary movements	0	GJC2 CL E G H	57165	17494	OMIM:613206	Spastic paraplegia 44, autosomal recessive		37
HP:0004305	HP:0004305	Involuntary movements	0	GLA CL E G H	2717	4296	OMIM:301500	Fabry disease		291
HP:0004305	HP:0004305	Involuntary movements	0	GLDC CL E G H	2731	4313	OMIM:605899	Glycine encephalopathy		166
HP:0004305	HP:0004305	Involuntary movements	0	GLRA1 CL E G H	2741	4326	ORPHA:3197	Hereditary hyperekplexia		63
HP:0004305	HP:0004305	Involuntary movements	0	GLRA1 CL E G H	2741	4326	OMIM:149400	Hyperekplexia 1		63
HP:0004305	HP:0004305	Involuntary movements	0	GLRB CL E G H	2743	4329	ORPHA:3197	Hereditary hyperekplexia		46
HP:0004305	HP:0004305	Involuntary movements	0	GLRB CL E G H	2743	4329	OMIM:614619	Hyperekplexia 2		46
HP:0004305	HP:0004305	Involuntary movements	0	GLRX5 CL E G H	51218	20134	ORPHA:401866	Childhood-onset spasticity with hyperglycinemia		17
HP:0004305	HP:0004305	Involuntary movements	0	GLUD2 CL E G H	2747	4336	OMIM:168600	Parkinson disease, late-onset		1
HP:0004305	HP:0004305	Involuntary movements	0	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA		6
HP:0004305	HP:0004305	Involuntary movements	0	GLYCTK CL E G H	132158	24247	ORPHA:941	D-glyceric aciduria		6
HP:0004305	HP:0004305	Involuntary movements	0	GM2A CL E G H	2760	4367	ORPHA:309246	GM2 gangliosidosis, AB variant		69
HP:0004305	HP:0004305	Involuntary movements	0	GM2A CL E G H	2760	4367	OMIM:272750	Gm2-Gangliosidosis, ab variant		69
HP:0004305	HP:0004305	Involuntary movements	0	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		34
HP:0004305	HP:0004305	Involuntary movements	0	GNA11 CL E G H	2767	4379	ORPHA:428	Autosomal dominant hypocalcemia		16
HP:0004305	HP:0004305	Involuntary movements	0	GNAI1 CL E G H	2770	4384	OMIM:619854
HP:0004305	HP:0004305	Involuntary movements	0	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy		36
HP:0004305	HP:0004305	Involuntary movements	0	GNAO1 CL E G H	2775	4389	OMIM:615473	Epileptic encephalopathy, early infantile, 17		36
HP:0004305	HP:0004305	Involuntary movements	0	GNAO1 CL E G H	2775	4389	OMIM:617493	Neurodevelopmental disorder with involuntary movements	.	36
HP:0004305	HP:0004305	Involuntary movements	0	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A	HP:0040283 - Occasional	101
HP:0004305	HP:0004305	Involuntary movements	0	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B		101
HP:0004305	HP:0004305	Involuntary movements	0	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C		101
HP:0004305	HP:0004305	Involuntary movements	0	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42		12
HP:0004305	HP:0004305	Involuntary movements	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0004305	HP:0004305	Involuntary movements	0	GON7 CL E G H	84520	20356	OMIM:619603	GALLOWAY-MOWAT SYNDROME 9; GAMOS9
HP:0004305	HP:0004305	Involuntary movements	0	GOSR2 CL E G H	9570	4431	OMIM:614018	Epilepsy, progressive myoclonic, 6		88
HP:0004305	HP:0004305	Involuntary movements	0	GPAA1 CL E G H	8733	4446	OMIM:617810	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15
HP:0004305	HP:0004305	Involuntary movements	0	GPAA1 CL E G H	8733	4446	ORPHA:529665	Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome
HP:0004305	HP:0004305	Involuntary movements	0	GPHN CL E G H	10243	15465	ORPHA:3197	Hereditary hyperekplexia		18
HP:0004305	HP:0004305	Involuntary movements	0	GPHN CL E G H	10243	15465	OMIM:149400	Hyperekplexia 1		18
HP:0004305	HP:0004305	Involuntary movements	0	GPR88 CL E G H	54112	4539	OMIM:616939	Chorea, childhood-onset, with psychomotor retardation		1
HP:0004305	HP:0004305	Involuntary movements	0	GPT2 CL E G H	84706	18062	ORPHA:477673	Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome		4
HP:0004305	HP:0004305	Involuntary movements	0	GRIA1 CL E G H	2890	4571	OMIM:619927			3
HP:0004305	HP:0004305	Involuntary movements	0	GRIA2 CL E G H	2891	4572	OMIM:618917	NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; NEDLIB		1
HP:0004305	HP:0004305	Involuntary movements	0	GRIA3 CL E G H	2892	4573	OMIM:300699	Mental retardation, X-linked 94		30
HP:0004305	HP:0004305	Involuntary movements	0	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations		30
HP:0004305	HP:0004305	Involuntary movements	0	GRIA4 CL E G H	2893	4574	OMIM:617864	Neurodevelopmental disorder with or without seizures and gait abnormalities
HP:0004305	HP:0004305	Involuntary movements	0	GRIK2 CL E G H	2898	4580	OMIM:611092	Mental retardation, autosomal recessive 6	HP:0040283 - Occasional	32
HP:0004305	HP:0004305	Involuntary movements	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:0004305	HP:0004305	Involuntary movements	0	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria		108
HP:0004305	HP:0004305	Involuntary movements	0	GRIN1 CL E G H	2902	4584	OMIM:619814	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101; DEE101		108
HP:0004305	HP:0004305	Involuntary movements	0	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy		108
HP:0004305	HP:0004305	Involuntary movements	0	GRIN1 CL E G H	2902	4584	OMIM:614254	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant		108
HP:0004305	HP:0004305	Involuntary movements	0	GRIN1 CL E G H	2902	4584	OMIM:617820	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive	.	108
HP:0004305	HP:0004305	Involuntary movements	0	GRIN2A CL E G H	2903	4585	ORPHA:289266	Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation		434
HP:0004305	HP:0004305	Involuntary movements	0	GRIN2B CL E G H	2904	4586	OMIM:616139	Epileptic encephalopathy, early infantile, 27		274
HP:0004305	HP:0004305	Involuntary movements	0	GRIN2B CL E G H	2904	4586	ORPHA:3451	Infantile spasms syndrome		274
HP:0004305	HP:0004305	Involuntary movements	0	GRIN2B CL E G H	2904	4586	OMIM:613970	Mental retardation, autosomal dominant 6, with or without seizures		274
HP:0004305	HP:0004305	Involuntary movements	0	GRIN2D CL E G H	2906	4588	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	2
HP:0004305	HP:0004305	Involuntary movements	0	GRM1 CL E G H	2911	4593	OMIM:614831	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13		8
HP:0004305	HP:0004305	Involuntary movements	0	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy		5
HP:0004305	HP:0004305	Involuntary movements	0	GRN CL E G H	2896	4601	ORPHA:275864	Behavioral variant of frontotemporal dementia		126
HP:0004305	HP:0004305	Involuntary movements	0	GRN CL E G H	2896	4601	OMIM:607485	Frontotemporal lobar degeneration with TDP43 inclusions		126
HP:0004305	HP:0004305	Involuntary movements	0	GSS CL E G H	2937	4624	OMIM:266130	Glutathione synthetase deficiency		39
HP:0004305	HP:0004305	Involuntary movements	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy		2
HP:0004305	HP:0004305	Involuntary movements	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy		3
HP:0004305	HP:0004305	Involuntary movements	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0004305	HP:0004305	Involuntary movements	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0004305	HP:0004305	Involuntary movements	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0004305	HP:0004305	Involuntary movements	0	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0004305	HP:0004305	Involuntary movements	0	GUCY2D CL E G H	3000	4689	OMIM:204000	Leber congenital amaurosis, type I		124
HP:0004305	HP:0004305	Involuntary movements	0	GUF1 CL E G H	60558	25799	OMIM:617065	Epileptic encephalopathy, early infantile, 40		2
HP:0004305	HP:0004305	Involuntary movements	0	GUF1 CL E G H	60558	25799	ORPHA:3451	Infantile spasms syndrome		2
HP:0004305	HP:0004305	Involuntary movements	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0004305	HP:0004305	Involuntary movements	0	HCFC1 CL E G H	3054	4839	OMIM:309541	Methylmalonic acidemia and homocysteinemia, Cblx type		100
HP:0004305	HP:0004305	Involuntary movements	0	HCN1 CL E G H	348980	4845	ORPHA:36387	Generalized epilepsy with febrile seizures-plus		54
HP:0004305	HP:0004305	Involuntary movements	0	HCN1 CL E G H	348980	4845	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	54
HP:0004305	HP:0004305	Involuntary movements	0	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome		33
HP:0004305	HP:0004305	Involuntary movements	0	HDC CL E G H	3067	4855	OMIM:137580	Gilles de la tourette syndrome		1
HP:0004305	HP:0004305	Involuntary movements	0	HECW2 CL E G H	57520	29853	OMIM:617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language		11
HP:0004305	HP:0004305	Involuntary movements	0	HERC2 CL E G H	8924	4868	OMIM:615516	Mental retardation, autosomal recessive 38		38
HP:0004305	HP:0004305	Involuntary movements	0	HESX1 CL E G H	8820	4877	ORPHA:478	Kallmann syndrome		21
HP:0004305	HP:0004305	Involuntary movements	0	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease		80
HP:0004305	HP:0004305	Involuntary movements	0	HEXB CL E G H	3074	4879	ORPHA:309169	Sandhoff disease, adult form		80
HP:0004305	HP:0004305	Involuntary movements	0	HEXB CL E G H	3074	4879	ORPHA:309155	Sandhoff disease, infantile form		80
HP:0004305	HP:0004305	Involuntary movements	0	HEXB CL E G H	3074	4879	ORPHA:309162	Sandhoff disease, juvenile form		80
HP:0004305	HP:0004305	Involuntary movements	0	HIBCH CL E G H	26275	4908	OMIM:250620	3-Hydroxyisobutyryl-Coa hydrolase deficiency		32
HP:0004305	HP:0004305	Involuntary movements	0	HIBCH CL E G H	26275	4908	ORPHA:88639	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency		32
HP:0004305	HP:0004305	Involuntary movements	0	HIKESHI CL E G H	51501	26938	OMIM:616881	Leukodystrophy, hypomyelinating, 13		3
HP:0004305	HP:0004305	Involuntary movements	0	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia		12
HP:0004305	HP:0004305	Involuntary movements	0	HINT1 CL E G H	3094	4912	OMIM:137200	Neuromyotonia and axonal neuropathy, autosomal recessive		12
HP:0004305	HP:0004305	Involuntary movements	0	HLA-DQB1 CL E G H	3119	4944	OMIM:123400	Creutzfeldt-Jakob disease
HP:0004305	HP:0004305	Involuntary movements	0	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria		81
HP:0004305	HP:0004305	Involuntary movements	0	HMGA2 CL E G H	8091	5009	ORPHA:94063	12q14 microdeletion syndrome		2
HP:0004305	HP:0004305	Involuntary movements	0	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria		35
HP:0004305	HP:0004305	Involuntary movements	0	HMGCL CL E G H	3155	5005	OMIM:246450	3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency		35
HP:0004305	HP:0004305	Involuntary movements	0	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency		138
HP:0004305	HP:0004305	Involuntary movements	0	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia		31
HP:0004305	HP:0004305	Involuntary movements	0	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia		5
HP:0004305	HP:0004305	Involuntary movements	0	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB		3
HP:0004305	HP:0004305	Involuntary movements	0	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0004305	HP:0004305	Involuntary movements	0	HNRNPU CL E G H	3192	5048	OMIM:617391	Epileptic encephalopathy, early infantile, 54		39
HP:0004305	HP:0004305	Involuntary movements	0	HPCA CL E G H	3208	5144	OMIM:224500	Dystonia 2, torsion, autosomal recessive		4
HP:0004305	HP:0004305	Involuntary movements	0	HPCA CL E G H	3208	5144	ORPHA:99657	Primary dystonia, DYT2 type	HP:0040282 - Frequent	4
HP:0004305	HP:0004305	Involuntary movements	0	HPRT1 CL E G H	3251	5157	OMIM:300322	Lesch-Nyhan syndrome		76
HP:0004305	HP:0004305	Involuntary movements	0	HS6ST1 CL E G H	9394	5201	ORPHA:478	Kallmann syndrome		8
HP:0004305	HP:0004305	Involuntary movements	0	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type		19
HP:0004305	HP:0004305	Involuntary movements	0	HSD17B10 CL E G H	3028	4800	OMIM:300438	HSD10 mitochondrial disease		19
HP:0004305	HP:0004305	Involuntary movements	0	HSD17B4 CL E G H	3295	5213	OMIM:233400	Perrault syndrome 1		98
HP:0004305	HP:0004305	Involuntary movements	0	HSPB1 CL E G H	3315	5246	ORPHA:99940	Autosomal dominant Charcot-Marie-Tooth disease type 2F		47
HP:0004305	HP:0004305	Involuntary movements	0	HSPB1 CL E G H	3315	5246	OMIM:606595	Charcot-Marie-Tooth disease, axonal, type 2F		47
HP:0004305	HP:0004305	Involuntary movements	0	HSPD1 CL E G H	3329	5261	OMIM:612233	Leukodystrophy, hypomyelinating, 4		46
HP:0004305	HP:0004305	Involuntary movements	0	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome		345
HP:0004305	HP:0004305	Involuntary movements	0	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII		39
HP:0004305	HP:0004305	Involuntary movements	0	HTRA2 CL E G H	27429	14348	OMIM:610297	PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK13		39
HP:0004305	HP:0004305	Involuntary movements	0	HTRA2 CL E G H	27429	14348	ORPHA:2828	Young-onset Parkinson disease		39
HP:0004305	HP:0004305	Involuntary movements	0	HTT CL E G H	3064	4851	OMIM:143100	Huntington disease		12
HP:0004305	HP:0004305	Involuntary movements	0	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease	HP:0040282 - Frequent	12
HP:0004305	HP:0004305	Involuntary movements	0	HTT CL E G H	3064	4851	ORPHA:248111	Juvenile Huntington disease		12
HP:0004305	HP:0004305	Involuntary movements	0	HTT CL E G H	3064	4851	OMIM:617435	Lopes-Maciel-Rodan syndrome		12
HP:0004305	HP:0004305	Involuntary movements	0	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type		98
HP:0004305	HP:0004305	Involuntary movements	0	HYCC1 CL E G H	84668	24587	OMIM:610532	Leukodystrophy, hypomyelinating, 5
HP:0004305	HP:0004305	Involuntary movements	0	HYLS1 CL E G H	219844	26558	ORPHA:475	Joubert syndrome		31
HP:0004305	HP:0004305	Involuntary movements	0	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome		28
HP:0004305	HP:0004305	Involuntary movements	0	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex		23
HP:0004305	HP:0004305	Involuntary movements	0	IFRD1 CL E G H	3475	5456	ORPHA:98771	Spinocerebellar ataxia type 18		1
HP:0004305	HP:0004305	Involuntary movements	0	IL17RD CL E G H	54756	17616	ORPHA:478	Kallmann syndrome		9
HP:0004305	HP:0004305	Involuntary movements	0	IMPDH2 CL E G H	3615	6053	ORPHA:98808	Autosomal dominant dopa-responsive dystonia		1
HP:0004305	HP:0004305	Involuntary movements	0	INPP5E CL E G H	56623	21474	ORPHA:475	Joubert syndrome		111
HP:0004305	HP:0004305	Involuntary movements	0	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1		111
HP:0004305	HP:0004305	Involuntary movements	0	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect		111
HP:0004305	HP:0004305	Involuntary movements	0	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect		111
HP:0004305	HP:0004305	Involuntary movements	0	IQSEC2 CL E G H	23096	29059	ORPHA:397933	Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome		119
HP:0004305	HP:0004305	Involuntary movements	0	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome		119
HP:0004305	HP:0004305	Involuntary movements	0	IREB2 CL E G H	3658	6115	OMIM:618451	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
HP:0004305	HP:0004305	Involuntary movements	0	IRF2BPL CL E G H	64207	14282	OMIM:618088	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
HP:0004305	HP:0004305	Involuntary movements	0	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease		1
HP:0004305	HP:0004305	Involuntary movements	0	ITM2B CL E G H	9445	6174	OMIM:176500	Cerebral amyloid angiopathy, itm2b-related, 1		3
HP:0004305	HP:0004305	Involuntary movements	0	ITM2B CL E G H	9445	6174	OMIM:117300	Dementia, familial danish		3
HP:0004305	HP:0004305	Involuntary movements	0	ITPA CL E G H	3704	6176	OMIM:616647	Epileptic encephalopathy, early infantile, 35		8
HP:0004305	HP:0004305	Involuntary movements	0	ITPR1 CL E G H	3708	6180	OMIM:206700	Gillespie syndrome		177
HP:0004305	HP:0004305	Involuntary movements	0	ITPR1 CL E G H	3708	6180	OMIM:606658	Spinocerebellar ataxia 15		177
HP:0004305	HP:0004305	Involuntary movements	0	ITPR1 CL E G H	3708	6180	OMIM:117360	Spinocerebellar ataxia 29		177
HP:0004305	HP:0004305	Involuntary movements	0	ITPR1 CL E G H	3708	6180	ORPHA:98769	Spinocerebellar ataxia type 15/16		177
HP:0004305	HP:0004305	Involuntary movements	0	ITPR1 CL E G H	3708	6180	ORPHA:208513	Spinocerebellar ataxia type 29		177
HP:0004305	HP:0004305	Involuntary movements	0	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH		257
HP:0004305	HP:0004305	Involuntary movements	0	JPH3 CL E G H	57338	14203	ORPHA:98934	Huntington disease-like 2	HP:0040283 - Occasional	2
HP:0004305	HP:0004305	Involuntary movements	0	JPH3 CL E G H	57338	14203	OMIM:606438	Huntington disease-like 2		2
HP:0004305	HP:0004305	Involuntary movements	0	JRK CL E G H	8629	6199	ORPHA:64280	Childhood absence epilepsy
HP:0004305	HP:0004305	Involuntary movements	0	JRK CL E G H	8629	6199	ORPHA:307	Juvenile myoclonic epilepsy
HP:0004305	HP:0004305	Involuntary movements	0	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB		1
HP:0004305	HP:0004305	Involuntary movements	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0004305