Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal central motor function (HP:0011442)

Parent Node:
Abnormal muscle tone (HP:0003808)

Parent Node:
Upper motor neuron dysfunction (HP:0002493)

..Starting node
..Hypertonia (HP:0001276)

Term ID:

1276

Name:

Hypertonia

Synonym:

Hypertonicity; Increased muscle tone; Muscle hypertonia; Spasticity and rigidity of muscles

Definition:

A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.

Comments:

Reference:

HP:0001276

Genes and Diseases:

Child Nodes:

........

Spasticity (HP:0001257)

................... HP:0001264 Spastic diplegia
................... HP:0001285 Spastic tetraparesis
................... HP:0002061 Lower limb spasticity
................... HP:0002064 Spastic gait
................... HP:0002179 Opisthotonus
................... HP:0002191 Progressive spasticity
................... HP:0002464 Spastic dysarthria
................... HP:0002491 Spasticity of facial muscles
................... HP:0002501 Spasticity of pharyngeal muscles
................... HP:0002510 Spastic tetraplegia
................... HP:0006986 Upper limb spasticity
................... HP:0011099 Spastic hemiparesis
................... HP:0031866 Clasp-knife sign

........

Limb hypertonia (HP:0002509)

................... HP:0006895 Lower limb hypertonia
................... HP:0200049 Upper limb hypertonia

........

Neck hypertonia (HP:0031867)

Sister Nodes:

Abnormal pyramidal sign (HP:0007256)

Dysfunction of lateral corticospinal tracts (HP:0007299)

Weakness due to upper motor neuron dysfunction (HP:0010549)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001276	HP:0001276	Hypertonia	0	AARS1 CL E G H	16	20	OMIM:616339	Epileptic encephalopathy, early infantile, 29
HP:0001276	HP:0001276	Hypertonia	0	AARS1 CL E G H	16	20	OMIM:619661	LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 2; HDLS2
HP:0001276	HP:0001276	Hypertonia	0	AARS1 CL E G H	16	20	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001276	HP:0001276	Hypertonia	0	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0001276	HP:0001276	Hypertonia	0	AARS2 CL E G H	57505	21022	OMIM:615889	Leukoencephalopathy, progressive, with ovarian failure			143
HP:0001276	HP:0001276	Hypertonia	0	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia			15
HP:0001276	HP:0001276	Hypertonia	0	AASS CL E G H	10157	17366	ORPHA:3124	Saccharopinuria			15
HP:0001276	HP:0001276	Hypertonia	0	ABCA12 CL E G H	26154	14637	OMIM:242500	Ichthyosis, congenital, autosomal recessive 4B			130
HP:0001276	HP:0001276	Hypertonia	0	ABCA7 CL E G H	10347	37	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent		3
HP:0001276	HP:0001276	Hypertonia	0	ABCC8 CL E G H	6833	59	OMIM:240800	Hypoglycemia of infancy, leucine-sensitive			245
HP:0001276	HP:0001276	Hypertonia	0	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy			135
HP:0001276	HP:0001276	Hypertonia	0	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy			135
HP:0001276	HP:0001276	Hypertonia	0	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy			135
HP:0001276	HP:0001276	Hypertonia	0	ABHD12 CL E G H	26090	15868	OMIM:612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract			50
HP:0001276	HP:0001276	Hypertonia	0	ABHD16A CL E G H	7920	13921	OMIM:619735	SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86
HP:0001276	HP:0001276	Hypertonia	0	ACADS CL E G H	35	90	ORPHA:26792	Short chain acyl-CoA dehydrogenase deficiency	HP:0040284 - Very rare		90
HP:0001276	HP:0001276	Hypertonia	0	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency			91
HP:0001276	HP:0001276	Hypertonia	0	ACD CL E G H	65057	25070	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent		11
HP:0001276	HP:0001276	Hypertonia	0	ACER3 CL E G H	55331	16066	OMIM:617762	Leukodystrophy, progressive, early childhood-onset
HP:0001276	HP:0001276	Hypertonia	0	ACOX1 CL E G H	51	119	ORPHA:2971	Peroxisomal acyl-CoA oxidase deficiency	HP:0040283 - Occasional		120
HP:0001276	HP:0001276	Hypertonia	0	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency	.		120
HP:0001276	HP:0001276	Hypertonia	0	ACP5 CL E G H	54	124	ORPHA:1855	Spondyloenchondrodysplasia			16
HP:0001276	HP:0001276	Hypertonia	0	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation			16
HP:0001276	HP:0001276	Hypertonia	0	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3	HP:0040283 - Occasional		96
HP:0001276	HP:0001276	Hypertonia	0	ACTL6B CL E G H	51412	160	OMIM:618468	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE76			2
HP:0001276	HP:0001276	Hypertonia	0	ACTL6B CL E G H	51412	160	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			2
HP:0001276	HP:0001276	Hypertonia	0	ADAM22 CL E G H	53616	201	OMIM:617933	Epileptic encephalopathy, early infantile, 61
HP:0001276	HP:0001276	Hypertonia	0	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome	HP:0040281 - Very frequent		116
HP:0001276	HP:0001276	Hypertonia	0	ADAR CL E G H	103	225	OMIM:615010	Aicardi-Goutieres syndrome 6			116
HP:0001276	HP:0001276	Hypertonia	0	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040283 - Occasional		116
HP:0001276	HP:0001276	Hypertonia	0	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS			1
HP:0001276	HP:0001276	Hypertonia	0	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome			9
HP:0001276	HP:0001276	Hypertonia	0	ADAT3 CL E G H	113179	25151	OMIM:615286	Mental retardation, autosomal recessive 36			9
HP:0001276	HP:0001276	Hypertonia	0	ADCY5 CL E G H	111	236	OMIM:606703	Dyskinesia, familial, with facial myokymia			25
HP:0001276	HP:0001276	Hypertonia	0	ADCY5 CL E G H	111	236	ORPHA:324588	Familial dyskinesia and facial myokymia			25
HP:0001276	HP:0001276	Hypertonia	0	ADD3 CL E G H	120	245	OMIM:617008	Cerebral palsy, spastic quadriplegic, 3			3
HP:0001276	HP:0001276	Hypertonia	0	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria			88
HP:0001276	HP:0001276	Hypertonia	0	ADGRG1 CL E G H	9289	4512	OMIM:606854	Polymicrogyria, bilateral frontoparietal			88
HP:0001276	HP:0001276	Hypertonia	0	ADH1C CL E G H	126	251	OMIM:168600	Parkinson disease, late-onset			4
HP:0001276	HP:0001276	Hypertonia	0	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040284 - Very rare		47
HP:0001276	HP:0001276	Hypertonia	0	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency			118
HP:0001276	HP:0001276	Hypertonia	0	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS			1
HP:0001276	HP:0001276	Hypertonia	0	AFG3L2 CL E G H	10939	315	ORPHA:313772	Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome			86
HP:0001276	HP:0001276	Hypertonia	0	AFG3L2 CL E G H	10939	315	OMIM:614487	Spastic ataxia 5, autosomal recessive			86
HP:0001276	HP:0001276	Hypertonia	0	AFG3L2 CL E G H	10939	315	OMIM:610246	Spinocerebellar ataxia 28	.		86
HP:0001276	HP:0001276	Hypertonia	0	AFG3L2 CL E G H	10939	315	ORPHA:101109	Spinocerebellar ataxia type 28			86
HP:0001276	HP:0001276	Hypertonia	0	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA			76
HP:0001276	HP:0001276	Hypertonia	0	AGTPBP1 CL E G H	23287	17258	OMIM:618276	Neurodegeneration, childhood-onset, with cerebellar atrophy			1
HP:0001276	HP:0001276	Hypertonia	0	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1			1
HP:0001276	HP:0001276	Hypertonia	0	AIFM1 CL E G H	9131	8768	ORPHA:83629	Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome			60
HP:0001276	HP:0001276	Hypertonia	0	AIMP1 CL E G H	9255	10648	OMIM:260600	Leukodystrophy, hypomyelinating, 3			4
HP:0001276	HP:0001276	Hypertonia	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A			89
HP:0001276	HP:0001276	Hypertonia	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447757	Autosomal dominant spastic paraplegia type 9B			89
HP:0001276	HP:0001276	Hypertonia	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B			89
HP:0001276	HP:0001276	Hypertonia	0	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant			89
HP:0001276	HP:0001276	Hypertonia	0	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive			89
HP:0001276	HP:0001276	Hypertonia	0	ALDH3A2 CL E G H	224	403	ORPHA:816	Sjögren-Larsson syndrome			87
HP:0001276	HP:0001276	Hypertonia	0	ALDH3A2 CL E G H	224	403	OMIM:270200	Sjogren-Larsson syndrome			87
HP:0001276	HP:0001276	Hypertonia	0	ALG11 CL E G H	440138	32456	ORPHA:280071	ALG11-CDG	HP:0040282 - Frequent		41
HP:0001276	HP:0001276	Hypertonia	0	ALG11 CL E G H	440138	32456	OMIM:613661	Congenital disorder of glycosylation, type Ip			41
HP:0001276	HP:0001276	Hypertonia	0	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG	HP:0040283 - Occasional		37
HP:0001276	HP:0001276	Hypertonia	0	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id	.		37
HP:0001276	HP:0001276	Hypertonia	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG			93
HP:0001276	HP:0001276	Hypertonia	0	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile			114
HP:0001276	HP:0001276	Hypertonia	0	ALS2 CL E G H	57679	443	ORPHA:293168	Infantile-onset ascending hereditary spastic paralysis			114
HP:0001276	HP:0001276	Hypertonia	0	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040282 - Frequent		114
HP:0001276	HP:0001276	Hypertonia	0	ALS2 CL E G H	57679	443	ORPHA:247604	Juvenile primary lateral sclerosis			114
HP:0001276	HP:0001276	Hypertonia	0	ALS2 CL E G H	57679	443	OMIM:606353	Primary lateral sclerosis, juvenile			114
HP:0001276	HP:0001276	Hypertonia	0	ALS2 CL E G H	57679	443	OMIM:607225	Spastic paralysis, infantile-onset ascending			114
HP:0001276	HP:0001276	Hypertonia	0	AMACR CL E G H	23600	451	OMIM:614307	Alpha-methylacyl-CoA racemase deficiency			44
HP:0001276	HP:0001276	Hypertonia	0	AMPD2 CL E G H	271	469	ORPHA:401805	Autosomal recessive spastic paraplegia type 63	HP:0040282 - Frequent		21
HP:0001276	HP:0001276	Hypertonia	0	AMPD2 CL E G H	271	469	OMIM:615809	Pontocerebellar hypoplasia, type 9			21
HP:0001276	HP:0001276	Hypertonia	0	AMPD2 CL E G H	271	469	OMIM:615686	Spastic paraplegia 63, autosomal recessive			21
HP:0001276	HP:0001276	Hypertonia	0	ANG CL E G H	283	483	ORPHA:803	Amyotrophic lateral sclerosis			32
HP:0001276	HP:0001276	Hypertonia	0	ANG CL E G H	283	483	OMIM:611895	Amyotrophic lateral sclerosis 9			32
HP:0001276	HP:0001276	Hypertonia	0	ANK3 CL E G H	288	494	ORPHA:356996	ANK3-related intellectual disability-sleep disturbance syndrome			176
HP:0001276	HP:0001276	Hypertonia	0	ANK3 CL E G H	288	494	OMIM:615493	Mental retardation, autosomal recessive 37			176
HP:0001276	HP:0001276	Hypertonia	0	ANKLE2 CL E G H	23141	29101	OMIM:616681	Microcephaly 16, primary, autosomal recessive			3
HP:0001276	HP:0001276	Hypertonia	0	ANXA11 CL E G H	311	535	ORPHA:803	Amyotrophic lateral sclerosis
HP:0001276	HP:0001276	Hypertonia	0	AP1G1 CL E G H	164	555	OMIM:619467	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0001276	HP:0001276	Hypertonia	0	AP1G1 CL E G H	164	555	OMIM:619548	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR
HP:0001276	HP:0001276	Hypertonia	0	AP1S2 CL E G H	8905	560	ORPHA:85335	Fried syndrome			13
HP:0001276	HP:0001276	Hypertonia	0	AP1S2 CL E G H	8905	560	OMIM:304340	Pettigrew syndrome			13
HP:0001276	HP:0001276	Hypertonia	0	AP3B2 CL E G H	8120	567	OMIM:617276	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE48			7
HP:0001276	HP:0001276	Hypertonia	0	AP3B2 CL E G H	8120	567	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			7
HP:0001276	HP:0001276	Hypertonia	0	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			49
HP:0001276	HP:0001276	Hypertonia	0	AP4B1 CL E G H	10717	572	OMIM:614066	Spastic paraplegia 47, autosomal recessive			49
HP:0001276	HP:0001276	Hypertonia	0	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			48
HP:0001276	HP:0001276	Hypertonia	0	AP4E1 CL E G H	23431	573	OMIM:613744	Spastic paraplegia 51, autosomal recessive			48
HP:0001276	HP:0001276	Hypertonia	0	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			41
HP:0001276	HP:0001276	Hypertonia	0	AP4M1 CL E G H	9179	574	OMIM:612936	Spastic paraplegia 50, autosomal recessive			41
HP:0001276	HP:0001276	Hypertonia	0	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			18
HP:0001276	HP:0001276	Hypertonia	0	AP4S1 CL E G H	11154	575	OMIM:614067	Spastic paraplegia 52, autosomal recessive	.		18
HP:0001276	HP:0001276	Hypertonia	0	AP5Z1 CL E G H	9907	22197	ORPHA:306511	Autosomal recessive spastic paraplegia type 48			165
HP:0001276	HP:0001276	Hypertonia	0	AP5Z1 CL E G H	9907	22197	OMIM:613647	Spastic paraplegia 48, autosomal recessive			165
HP:0001276	HP:0001276	Hypertonia	0	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion			3179
HP:0001276	HP:0001276	Hypertonia	0	APC2 CL E G H	10297	24036	OMIM:618677	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10; CDCBM10			1
HP:0001276	HP:0001276	Hypertonia	0	APOE CL E G H	348	613	OMIM:607822	Alzheimer disease 3			39
HP:0001276	HP:0001276	Hypertonia	0	APP CL E G H	351	620	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent		74
HP:0001276	HP:0001276	Hypertonia	0	ARF1 CL E G H	375	652	OMIM:618185	Periventricular nodular heterotopia 8
HP:0001276	HP:0001276	Hypertonia	0	ARG1 CL E G H	383	663	OMIM:207800	Argininemia			31
HP:0001276	HP:0001276	Hypertonia	0	ARG1 CL E G H	383	663	ORPHA:90	Argininemia			31
HP:0001276	HP:0001276	Hypertonia	0	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		147
HP:0001276	HP:0001276	Hypertonia	0	ARHGEF9 CL E G H	23229	14561	OMIM:300607	Epileptic encephalopathy, early infantile, 8	.		45
HP:0001276	HP:0001276	Hypertonia	0	ARHGEF9 CL E G H	23229	14561	ORPHA:163985	Hyperekplexia-epilepsy syndrome	HP:0040282 - Frequent		45
HP:0001276	HP:0001276	Hypertonia	0	ARL13B CL E G H	200894	25419	OMIM:612291	JOUBERT SYNDROME 8; JBTS8			62
HP:0001276	HP:0001276	Hypertonia	0	ARL6IP1 CL E G H	23204	697	ORPHA:401780	Autosomal recessive spastic paraplegia type 61			1
HP:0001276	HP:0001276	Hypertonia	0	ARL6IP1 CL E G H	23204	697	OMIM:615685	Spastic paraplegia 61, autosomal recessive			1
HP:0001276	HP:0001276	Hypertonia	0	ARNT2 CL E G H	9915	16876	OMIM:615926	Webb-Dattani syndrome
HP:0001276	HP:0001276	Hypertonia	0	ARSA CL E G H	410	713	OMIM:250100	Metachromatic leukodystrophy			253
HP:0001276	HP:0001276	Hypertonia	0	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form			253
HP:0001276	HP:0001276	Hypertonia	0	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form			253
HP:0001276	HP:0001276	Hypertonia	0	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form			253
HP:0001276	HP:0001276	Hypertonia	0	ARSI CL E G H	340075	32521	ORPHA:401815	Autosomal recessive spastic paraplegia type 66			1
HP:0001276	HP:0001276	Hypertonia	0	ARV1 CL E G H	64801	29561	OMIM:617020	Epileptic encephalopathy, early infantile, 38	.		3
HP:0001276	HP:0001276	Hypertonia	0	ARV1 CL E G H	64801	29561	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0001276	HP:0001276	Hypertonia	0	ARX CL E G H	170302	18060	ORPHA:2508	Corpus callosum agenesis-abnormal genitalia syndrome			166
HP:0001276	HP:0001276	Hypertonia	0	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia			166
HP:0001276	HP:0001276	Hypertonia	0	ARX CL E G H	170302	18060	OMIM:308350	Developmental and epileptic encephalopathy 1	.		166
HP:0001276	HP:0001276	Hypertonia	0	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy			166
HP:0001276	HP:0001276	Hypertonia	0	ARX CL E G H	170302	18060	OMIM:300215	Lissencephaly, X-linked, 2			166
HP:0001276	HP:0001276	Hypertonia	0	ARX CL E G H	170302	18060	OMIM:309510	Partington syndrome			166
HP:0001276	HP:0001276	Hypertonia	0	ARX CL E G H	170302	18060	ORPHA:94083	Partington syndrome			166
HP:0001276	HP:0001276	Hypertonia	0	ARX CL E G H	170302	18060	ORPHA:452	X-linked lissencephaly with abnormal genitalia			166
HP:0001276	HP:0001276	Hypertonia	0	ARX CL E G H	170302	18060	ORPHA:3175	X-linked spasticity-intellectual disability-epilepsy syndrome	HP:0040281 - Very frequent		166
HP:0001276	HP:0001276	Hypertonia	0	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease			78
HP:0001276	HP:0001276	Hypertonia	0	ASNS CL E G H	440	753	OMIM:615574	Asparagine synthetase deficiency			17
HP:0001276	HP:0001276	Hypertonia	0	ASPA CL E G H	443	756	OMIM:271900	Canavan disease			48
HP:0001276	HP:0001276	Hypertonia	0	ASPA CL E G H	443	756	ORPHA:314911	Severe Canavan disease			48
HP:0001276	HP:0001276	Hypertonia	0	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome			145
HP:0001276	HP:0001276	Hypertonia	0	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome			7
HP:0001276	HP:0001276	Hypertonia	0	ASXL3 CL E G H	80816	29357	ORPHA:352577	Bainbridge-Ropers syndrome	HP:0040283 - Occasional		49
HP:0001276	HP:0001276	Hypertonia	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0001276	HP:0001276	Hypertonia	0	ATAD1 CL E G H	84896	25903	ORPHA:3197	Hereditary hyperekplexia	HP:0040281 - Very frequent
HP:0001276	HP:0001276	Hypertonia	0	ATAD1 CL E G H	84896	25903	OMIM:618011	Hyperekplexia 4
HP:0001276	HP:0001276	Hypertonia	0	ATAD3A CL E G H	55210	25567	OMIM:617183	Harel-Yoon syndrome			5
HP:0001276	HP:0001276	Hypertonia	0	ATAD3A CL E G H	55210	25567	ORPHA:496790	Ocular anomalies-axonal neuropathy-developmental delay syndrome			5
HP:0001276	HP:0001276	Hypertonia	0	ATAD3A CL E G H	55210	25567	OMIM:618810	PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL			5
HP:0001276	HP:0001276	Hypertonia	0	ATL1 CL E G H	51062	11231	ORPHA:100984	Autosomal dominant spastic paraplegia type 3			71
HP:0001276	HP:0001276	Hypertonia	0	ATL1 CL E G H	51062	11231	OMIM:182600	Spastic paraplegia 3, autosomal dominant			71
HP:0001276	HP:0001276	Hypertonia	0	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia			3267
HP:0001276	HP:0001276	Hypertonia	0	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies			16
HP:0001276	HP:0001276	Hypertonia	0	ATP13A2 CL E G H	23400	30213	ORPHA:314632	ATP13A2-related juvenile neuronal ceroid lipofuscinosis			100
HP:0001276	HP:0001276	Hypertonia	0	ATP13A2 CL E G H	23400	30213	ORPHA:513436	Autosomal recessive spastic paraplegia type 78			100
HP:0001276	HP:0001276	Hypertonia	0	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome	HP:0040283 - Occasional		100
HP:0001276	HP:0001276	Hypertonia	0	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome			100
HP:0001276	HP:0001276	Hypertonia	0	ATP13A2 CL E G H	23400	30213	OMIM:617225	SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78			100
HP:0001276	HP:0001276	Hypertonia	0	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood			239
HP:0001276	HP:0001276	Hypertonia	0	ATP1A2 CL E G H	477	800	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			239
HP:0001276	HP:0001276	Hypertonia	0	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood			150
HP:0001276	HP:0001276	Hypertonia	0	ATP1A3 CL E G H	478	801	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			150
HP:0001276	HP:0001276	Hypertonia	0	ATP2B3 CL E G H	492	816	ORPHA:314978	X-linked non progressive cerebellar ataxia			19
HP:0001276	HP:0001276	Hypertonia	0	ATP5MC3 CL E G H	518	843	OMIM:619681	DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA; DYTSPG
HP:0001276	HP:0001276	Hypertonia	0	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040283 - Occasional
HP:0001276	HP:0001276	Hypertonia	0	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0001276	HP:0001276	Hypertonia	0	ATP6 CL E G H	4508	7414	ORPHA:320360	MT-ATP6-related mitochondrial spastic paraplegia
HP:0001276	HP:0001276	Hypertonia	0	ATP6AP2 CL E G H	10159	18305	OMIM:300423	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH			36
HP:0001276	HP:0001276	Hypertonia	0	ATP6AP2 CL E G H	10159	18305	OMIM:300911	Parkinsonism with spasticity, X-linked			36
HP:0001276	HP:0001276	Hypertonia	0	ATP6AP2 CL E G H	10159	18305	ORPHA:93952	X-linked intellectual disability, Hedera type			36
HP:0001276	HP:0001276	Hypertonia	0	ATP6AP2 CL E G H	10159	18305	ORPHA:363654	X-linked parkinsonism-spasticity syndrome			36
HP:0001276	HP:0001276	Hypertonia	0	ATP6V0A1 CL E G H	535	865	OMIM:619971				1
HP:0001276	HP:0001276	Hypertonia	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			140
HP:0001276	HP:0001276	Hypertonia	0	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			3
HP:0001276	HP:0001276	Hypertonia	0	ATP6V1A CL E G H	523	851	OMIM:618012	Epileptic encephalopathy, infantile or early childhood, 3			3
HP:0001276	HP:0001276	Hypertonia	0	ATP6V1A CL E G H	523	851	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0001276	HP:0001276	Hypertonia	0	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			2
HP:0001276	HP:0001276	Hypertonia	0	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease	HP:0040281 - Very frequent		192
HP:0001276	HP:0001276	Hypertonia	0	ATP7A CL E G H	538	869	OMIM:309400	Menkes disease	.		192
HP:0001276	HP:0001276	Hypertonia	0	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease			315
HP:0001276	HP:0001276	Hypertonia	0	ATPAF2 CL E G H	91647	18802	OMIM:604273	Mitochondrial complex V (atp synthase) deficiency, nuclear type 1			32
HP:0001276	HP:0001276	Hypertonia	0	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome			169
HP:0001276	HP:0001276	Hypertonia	0	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked			169
HP:0001276	HP:0001276	Hypertonia	0	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1			169
HP:0001276	HP:0001276	Hypertonia	0	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1			19
HP:0001276	HP:0001276	Hypertonia	0	ATXN10 CL E G H	25814	10549	ORPHA:98761	Spinocerebellar ataxia type 10			9
HP:0001276	HP:0001276	Hypertonia	0	ATXN2 CL E G H	6311	10555	ORPHA:803	Amyotrophic lateral sclerosis			11
HP:0001276	HP:0001276	Hypertonia	0	ATXN2 CL E G H	6311	10555	OMIM:168600	Parkinson disease, late-onset			11
HP:0001276	HP:0001276	Hypertonia	0	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2			11
HP:0001276	HP:0001276	Hypertonia	0	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease			14
HP:0001276	HP:0001276	Hypertonia	0	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1			14
HP:0001276	HP:0001276	Hypertonia	0	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2			14
HP:0001276	HP:0001276	Hypertonia	0	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3			14
HP:0001276	HP:0001276	Hypertonia	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:0001276	HP:0001276	Hypertonia	0	ATXN8 CL E G H	724066	32925	OMIM:608768	Spinocerebellar ataxia 8			1
HP:0001276	HP:0001276	Hypertonia	0	ATXN8 CL E G H	724066	32925	ORPHA:98760	Spinocerebellar ataxia type 8			1
HP:0001276	HP:0001276	Hypertonia	0	ATXN8OS CL E G H	6315	10561	OMIM:168600	Parkinson disease, late-onset			1
HP:0001276	HP:0001276	Hypertonia	0	ATXN8OS CL E G H	6315	10561	OMIM:608768	Spinocerebellar ataxia 8			1
HP:0001276	HP:0001276	Hypertonia	0	ATXN8OS CL E G H	6315	10561	ORPHA:98760	Spinocerebellar ataxia type 8			1
HP:0001276	HP:0001276	Hypertonia	0	AUH CL E G H	549	890	ORPHA:67046	3-methylglutaconic aciduria type 1			49
HP:0001276	HP:0001276	Hypertonia	0	AUH CL E G H	549	890	OMIM:250950	3-methylglutaconic aciduria, type I			49
HP:0001276	HP:0001276	Hypertonia	0	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency	HP:0040283 - Occasional		61
HP:0001276	HP:0001276	Hypertonia	0	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26	HP:0040283 - Occasional		61
HP:0001276	HP:0001276	Hypertonia	0	B3GALNT2 CL E G H	148789	28596	ORPHA:588	Muscle-eye-brain disease	HP:0040282 - Frequent		43
HP:0001276	HP:0001276	Hypertonia	0	B4GALNT1 CL E G H	2583	4117	ORPHA:101006	Autosomal recessive spastic paraplegia type 26			25
HP:0001276	HP:0001276	Hypertonia	0	B4GALNT1 CL E G H	2583	4117	OMIM:609195	Spastic paraplegia 26, autosomal recessive			25
HP:0001276	HP:0001276	Hypertonia	0	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13			17
HP:0001276	HP:0001276	Hypertonia	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0001276	HP:0001276	Hypertonia	0	BCAS3 CL E G H	54828	14347	OMIM:619641	HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS			2
HP:0001276	HP:0001276	Hypertonia	0	BCKDHA CL E G H	593	986	OMIM:248600	Maple syrup urine disease	.		120
HP:0001276	HP:0001276	Hypertonia	0	BCKDHB CL E G H	594	987	OMIM:248600	Maple syrup urine disease	.		162
HP:0001276	HP:0001276	Hypertonia	0	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49			3
HP:0001276	HP:0001276	Hypertonia	0	BCL11B CL E G H	64919	13222	OMIM:618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES			3
HP:0001276	HP:0001276	Hypertonia	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0001276	HP:0001276	Hypertonia	0	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1			101
HP:0001276	HP:0001276	Hypertonia	0	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0001276	HP:0001276	Hypertonia	0	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1			72
HP:0001276	HP:0001276	Hypertonia	0	BEAN1 CL E G H	146227	24160	ORPHA:217012	Spinocerebellar ataxia type 31			1
HP:0001276	HP:0001276	Hypertonia	0	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant			46
HP:0001276	HP:0001276	Hypertonia	0	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X	HP:0040282 - Frequent		385
HP:0001276	HP:0001276	Hypertonia	0	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia			14
HP:0001276	HP:0001276	Hypertonia	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1	.		276
HP:0001276	HP:0001276	Hypertonia	0	BRAT1 CL E G H	221927	21701	OMIM:618056	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures	.		20
HP:0001276	HP:0001276	Hypertonia	0	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal	.		20
HP:0001276	HP:0001276	Hypertonia	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent
HP:0001276	HP:0001276	Hypertonia	0	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome			7
HP:0001276	HP:0001276	Hypertonia	0	BSCL2 CL E G H	26580	15832	ORPHA:100998	Autosomal dominant spastic paraplegia type 17			105
HP:0001276	HP:0001276	Hypertonia	0	BSCL2 CL E G H	26580	15832	OMIM:615924	Encephalopathy, progressive, with or without lipodystrophy			105
HP:0001276	HP:0001276	Hypertonia	0	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy			105
HP:0001276	HP:0001276	Hypertonia	0	BSCL2 CL E G H	26580	15832	OMIM:270685	Spastic paraplegia 17			105
HP:0001276	HP:0001276	Hypertonia	0	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency			223
HP:0001276	HP:0001276	Hypertonia	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0001276	HP:0001276	Hypertonia	0	C19ORF12 CL E G H	83636	25443	ORPHA:320370	Autosomal recessive spastic paraplegia type 43			114
HP:0001276	HP:0001276	Hypertonia	0	C19ORF12 CL E G H	83636	25443	ORPHA:289560	Mitochondrial membrane protein-associated neurodegeneration			114
HP:0001276	HP:0001276	Hypertonia	0	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4			114
HP:0001276	HP:0001276	Hypertonia	0	C19ORF12 CL E G H	83636	25443	OMIM:615043	Spastic paraplegia 43, autosomal recessive			114
HP:0001276	HP:0001276	Hypertonia	0	C2ORF69 CL E G H	205327	26799	OMIM:619423	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53
HP:0001276	HP:0001276	Hypertonia	0	C9ORF72 CL E G H	203228	28337	ORPHA:803	Amyotrophic lateral sclerosis			56
HP:0001276	HP:0001276	Hypertonia	0	C9ORF72 CL E G H	203228	28337	ORPHA:401901	Huntington disease-like syndrome due to C9ORF72 expansions			56
HP:0001276	HP:0001276	Hypertonia	0	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood			449
HP:0001276	HP:0001276	Hypertonia	0	CACNA1A CL E G H	773	1388	OMIM:617106	Epileptic encephalopathy, early infantile, 42	.		449
HP:0001276	HP:0001276	Hypertonia	0	CACNA1A CL E G H	773	1388	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			449
HP:0001276	HP:0001276	Hypertonia	0	CACNA1B CL E G H	774	1389	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			5
HP:0001276	HP:0001276	Hypertonia	0	CACNA1C CL E G H	775	1390	OMIM:620029				572
HP:0001276	HP:0001276	Hypertonia	0	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities			51
HP:0001276	HP:0001276	Hypertonia	0	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome			51
HP:0001276	HP:0001276	Hypertonia	0	CACNA1E CL E G H	777	1392	OMIM:618285	Developmental and epileptic encephalopathy 69			11
HP:0001276	HP:0001276	Hypertonia	0	CACNA1G CL E G H	8913	1394	OMIM:616795	Spinocerebellar ataxia 42			32
HP:0001276	HP:0001276	Hypertonia	0	CACNA1G CL E G H	8913	1394	OMIM:618087	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits			32
HP:0001276	HP:0001276	Hypertonia	0	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42			32
HP:0001276	HP:0001276	Hypertonia	0	CACNA2D1 CL E G H	781	1399	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			59
HP:0001276	HP:0001276	Hypertonia	0	CAMK2A CL E G H	815	1460	OMIM:618095	Mental retardation, autosomal recessive 63			1
HP:0001276	HP:0001276	Hypertonia	0	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0001276	HP:0001276	Hypertonia	0	CAPN1 CL E G H	823	1476	ORPHA:488594	Autosomal recessive spastic paraplegia type 76			4
HP:0001276	HP:0001276	Hypertonia	0	CAPN1 CL E G H	823	1476	OMIM:616907	SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG76			4
HP:0001276	HP:0001276	Hypertonia	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0001276	HP:0001276	Hypertonia	0	CARS2 CL E G H	79587	25695	OMIM:616672	Combined oxidative phosphorylation deficiency 27			35
HP:0001276	HP:0001276	Hypertonia	0	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy			118
HP:0001276	HP:0001276	Hypertonia	0	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia	.		118
HP:0001276	HP:0001276	Hypertonia	0	CASK CL E G H	8573	1497	ORPHA:163937	X-linked intellectual disability, Najm type			118
HP:0001276	HP:0001276	Hypertonia	0	CCDC88C CL E G H	440193	19967	OMIM:616053	Spinocerebellar ataxia 40			54
HP:0001276	HP:0001276	Hypertonia	0	CCDC88C CL E G H	440193	19967	ORPHA:423275	Spinocerebellar ataxia type 40			54
HP:0001276	HP:0001276	Hypertonia	0	CCNF CL E G H	899	1591	ORPHA:803	Amyotrophic lateral sclerosis
HP:0001276	HP:0001276	Hypertonia	0	CCT5 CL E G H	22948	1618	ORPHA:139578	Mutilating hereditary sensory neuropathy with spastic paraplegia			56
HP:0001276	HP:0001276	Hypertonia	0	CCT5 CL E G H	22948	1618	OMIM:256840	Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive			56
HP:0001276	HP:0001276	Hypertonia	0	CDC40 CL E G H	51362	17350	OMIM:619302	PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0001276	HP:0001276	Hypertonia	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0001276	HP:0001276	Hypertonia	0	CDK19 CL E G H	23097	19338	OMIM:618916	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87
HP:0001276	HP:0001276	Hypertonia	0	CDK19 CL E G H	23097	19338	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001276	HP:0001276	Hypertonia	0	CDKL5 CL E G H	6792	11411	ORPHA:3095	Atypical Rett syndrome			405
HP:0001276	HP:0001276	Hypertonia	0	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy			405
HP:0001276	HP:0001276	Hypertonia	0	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly			200
HP:0001276	HP:0001276	Hypertonia	0	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly			200
HP:0001276	HP:0001276	Hypertonia	0	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			200
HP:0001276	HP:0001276	Hypertonia	0	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly			200
HP:0001276	HP:0001276	Hypertonia	0	CELF2 CL E G H	10659	2550	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001276	HP:0001276	Hypertonia	0	CEP85L CL E G H	387119	21638	ORPHA:572013	Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome			1
HP:0001276	HP:0001276	Hypertonia	0	CFAP410 CL E G H	755	1260	ORPHA:803	Amyotrophic lateral sclerosis
HP:0001276	HP:0001276	Hypertonia	0	CHCHD10 CL E G H	400916	15559	ORPHA:803	Amyotrophic lateral sclerosis			11
HP:0001276	HP:0001276	Hypertonia	0	CHKA CL E G H	1119	1937	OMIM:620023
HP:0001276	HP:0001276	Hypertonia	0	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8			19
HP:0001276	HP:0001276	Hypertonia	0	CHMP2B CL E G H	25978	24537	ORPHA:803	Amyotrophic lateral sclerosis			42
HP:0001276	HP:0001276	Hypertonia	0	CHMP2B CL E G H	25978	24537	OMIM:600795	Frontotemporal dementia and/or amytrophic lateral sclerosis 7			42
HP:0001276	HP:0001276	Hypertonia	0	CHP1 CL E G H	11261	17433	OMIM:618438	Spastic ataxia 9, autosomal recessive
HP:0001276	HP:0001276	Hypertonia	0	CIT CL E G H	11113	1985	OMIM:617090	Microcephaly 17, primary, autosomal recessive			15
HP:0001276	HP:0001276	Hypertonia	0	CKAP2L CL E G H	150468	26877	ORPHA:3255	Filippi syndrome			7
HP:0001276	HP:0001276	Hypertonia	0	CLCF1 CL E G H	23529	17412	ORPHA:1545	Crisponi syndrome	HP:0040281 - Very frequent		6
HP:0001276	HP:0001276	Hypertonia	0	CLCN3 CL E G H	1182	2021	OMIM:619517	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA			2
HP:0001276	HP:0001276	Hypertonia	0	CLCN4 CL E G H	1183	2022	ORPHA:485350	CLCN4-related X-linked intellectual disability syndrome			45
HP:0001276	HP:0001276	Hypertonia	0	CLCN4 CL E G H	1183	2022	OMIM:300114	Raynaud-Claes syndrome			45
HP:0001276	HP:0001276	Hypertonia	0	CLDN11 CL E G H	5010	8514	OMIM:619328	Leukodystrophy, hypomyelinating, 22
HP:0001276	HP:0001276	Hypertonia	0	CLIC2 CL E G H	1193	2063	OMIM:300886	MENTAL RETARDATION, X-LINKED, SYNDROMIC 32; MRXS32			4
HP:0001276	HP:0001276	Hypertonia	0	CLIC2 CL E G H	1193	2063	ORPHA:324410	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome			4
HP:0001276	HP:0001276	Hypertonia	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0001276	HP:0001276	Hypertonia	0	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease			216
HP:0001276	HP:0001276	Hypertonia	0	CLN5 CL E G H	1203	2076	ORPHA:228360	CLN5 disease			141
HP:0001276	HP:0001276	Hypertonia	0	CLN8 CL E G H	2055	2079	ORPHA:1947	Progressive epilepsy-intellectual disability syndrome, Finnish type			111
HP:0001276	HP:0001276	Hypertonia	0	CLP1 CL E G H	10978	16999	ORPHA:411493	Pontocerebellar hypoplasia type 10	HP:0040282 - Frequent		7
HP:0001276	HP:0001276	Hypertonia	0	CLP1 CL E G H	10978	16999	OMIM:615803	Pontocerebellar hypoplasia, type 10	.		7
HP:0001276	HP:0001276	Hypertonia	0	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7	HP:0040283 - Occasional		38
HP:0001276	HP:0001276	Hypertonia	0	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia			38
HP:0001276	HP:0001276	Hypertonia	0	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56			1
HP:0001276	HP:0001276	Hypertonia	0	CLTC CL E G H	1213	2092	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0001276	HP:0001276	Hypertonia	0	CNKSR2 CL E G H	22866	19701	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			18
HP:0001276	HP:0001276	Hypertonia	0	CNOT1 CL E G H	23019	7877	OMIM:618500	Holoprosencephaly 12 with or without pancreatic agenesis			2
HP:0001276	HP:0001276	Hypertonia	0	CNP CL E G H	1267	2158	OMIM:619071	LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20
HP:0001276	HP:0001276	Hypertonia	0	CNPY3 CL E G H	10695	11968	OMIM:617929	Epileptic encephalopathy, early infantile, 60
HP:0001276	HP:0001276	Hypertonia	0	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3			9
HP:0001276	HP:0001276	Hypertonia	0	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy			518
HP:0001276	HP:0001276	Hypertonia	0	CNTNAP2 CL E G H	26047	13830	OMIM:610042	Pitt-Hopkins-Like syndrome 1			518
HP:0001276	HP:0001276	Hypertonia	0	COA8 CL E G H	84334	20492	OMIM:619061	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17; MC4DN17
HP:0001276	HP:0001276	Hypertonia	0	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
HP:0001276	HP:0001276	Hypertonia	0	COASY CL E G H	80347	29932	ORPHA:397725	COASY protein-associated neurodegeneration			16
HP:0001276	HP:0001276	Hypertonia	0	COASY CL E G H	80347	29932	OMIM:615643	Neurodegeneration with brain iron accumulation 6			16
HP:0001276	HP:0001276	Hypertonia	0	COG2 CL E G H	22796	6546	ORPHA:435934	COG2-CDG			2
HP:0001276	HP:0001276	Hypertonia	0	COG2 CL E G H	22796	6546	OMIM:617395	Congenital disorder of glycosylation, type IIq			2
HP:0001276	HP:0001276	Hypertonia	0	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG			67
HP:0001276	HP:0001276	Hypertonia	0	COG4 CL E G H	25839	18620	OMIM:613489	Congenital disorder of glycosylation, type IIj	.		67
HP:0001276	HP:0001276	Hypertonia	0	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies			193
HP:0001276	HP:0001276	Hypertonia	0	COL4A2 CL E G H	1284	2203	OMIM:614483	PORENCEPHALY 2; POREN2			147
HP:0001276	HP:0001276	Hypertonia	0	COLGALT1 CL E G H	79709	26182	OMIM:618360	Brain small vessel disease 3
HP:0001276	HP:0001276	Hypertonia	0	COPB1 CL E G H	1315	2231	OMIM:619255	BARALLE-MACKEN SYNDROME; BARMACS
HP:0001276	HP:0001276	Hypertonia	0	COPB2 CL E G H	9276	2232	OMIM:619884
HP:0001276	HP:0001276	Hypertonia	0	COPB2 CL E G H	9276	2232	OMIM:617800	Microcephaly 19, primary, autosomal recessive
HP:0001276	HP:0001276	Hypertonia	0	COQ2 CL E G H	27235	25223	OMIM:146500	Multiple system atrophy 1, susceptibility to			54
HP:0001276	HP:0001276	Hypertonia	0	COQ2 CL E G H	27235	25223	ORPHA:227510	Multiple system atrophy, cerebellar type			54
HP:0001276	HP:0001276	Hypertonia	0	COQ2 CL E G H	27235	25223	ORPHA:98933	Multiple system atrophy, parkinsonian type			54
HP:0001276	HP:0001276	Hypertonia	0	COQ5 CL E G H	84274	28722	OMIM:619028	COENZYME Q10 DEFICIENCY, PRIMARY, 9; COQ10D9
HP:0001276	HP:0001276	Hypertonia	0	COQ9 CL E G H	57017	25302	OMIM:614654	Coenzyme Q10 deficiency, primary, 5	.		44
HP:0001276	HP:0001276	Hypertonia	0	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy			104
HP:0001276	HP:0001276	Hypertonia	0	COX8A CL E G H	1351	2294	OMIM:619059	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15			1
HP:0001276	HP:0001276	Hypertonia	0	CP CL E G H	1356	2295	ORPHA:48818	Aceruloplasminemia			115
HP:0001276	HP:0001276	Hypertonia	0	CP CL E G H	1356	2295	OMIM:604290	ACERULOPLASMINEMIA			115
HP:0001276	HP:0001276	Hypertonia	0	CPSF3 CL E G H	51692	2326	OMIM:619876
HP:0001276	HP:0001276	Hypertonia	0	CPT1C CL E G H	126129	18540	ORPHA:444099	Autosomal dominant spastic paraplegia type 73			1
HP:0001276	HP:0001276	Hypertonia	0	CPT1C CL E G H	126129	18540	OMIM:616282	Spastic paraplegia 73, autosomal dominant			1
HP:0001276	HP:0001276	Hypertonia	0	CRLF1 CL E G H	9244	2364	ORPHA:1545	Crisponi syndrome	HP:0040281 - Very frequent		24
HP:0001276	HP:0001276	Hypertonia	0	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1			24
HP:0001276	HP:0001276	Hypertonia	0	CRYAB CL E G H	1410	2389	OMIM:613869	Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related			46
HP:0001276	HP:0001276	Hypertonia	0	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis			149
HP:0001276	HP:0001276	Hypertonia	0	CSF1R CL E G H	1436	2433	OMIM:221820	Leukoencephalopathy, diffuse hereditary, with spheroids			149
HP:0001276	HP:0001276	Hypertonia	0	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts			160
HP:0001276	HP:0001276	Hypertonia	0	CTNNA2 CL E G H	1496	2510	OMIM:618174	Cortical dysplasia, complex, with other brain malformations 9			2
HP:0001276	HP:0001276	Hypertonia	0	CTNNB1 CL E G H	1499	2514	OMIM:615075	Neurodevelopmental disorder with spastic diplegia and visual defects			88
HP:0001276	HP:0001276	Hypertonia	0	CTNNB1 CL E G H	1499	2514	ORPHA:404473	Severe intellectual disability-progressive spastic diplegia syndrome			88
HP:0001276	HP:0001276	Hypertonia	0	CTSD CL E G H	1509	2529	OMIM:610127	Ceroid lipofuscinosis, neuronal, 10			159
HP:0001276	HP:0001276	Hypertonia	0	CYB5A CL E G H	1528	2570	ORPHA:621	Hereditary methemoglobinemia	HP:0040284 - Very rare		2
HP:0001276	HP:0001276	Hypertonia	0	CYB5R3 CL E G H	1727	2873	ORPHA:621	Hereditary methemoglobinemia	HP:0040284 - Very rare		24
HP:0001276	HP:0001276	Hypertonia	0	CYB5R3 CL E G H	1727	2873	OMIM:250800	Methemoglobinemia due to deficiency of methemoglobin reductase	.		24
HP:0001276	HP:0001276	Hypertonia	0	CYFIP2 CL E G H	26999	13760	OMIM:618008	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65; EIEE65			1
HP:0001276	HP:0001276	Hypertonia	0	CYFIP2 CL E G H	26999	13760	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0001276	HP:0001276	Hypertonia	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis			114
HP:0001276	HP:0001276	Hypertonia	0	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis			114
HP:0001276	HP:0001276	Hypertonia	0	CYP2U1 CL E G H	113612	20582	ORPHA:320411	Autosomal recessive spastic paraplegia type 56			18
HP:0001276	HP:0001276	Hypertonia	0	CYP2U1 CL E G H	113612	20582	OMIM:615030	Spastic paraplegia 56, autosomal recessive			18
HP:0001276	HP:0001276	Hypertonia	0	CYP7B1 CL E G H	9420	2652	ORPHA:100986	Autosomal recessive spastic paraplegia type 5A			57
HP:0001276	HP:0001276	Hypertonia	0	CYP7B1 CL E G H	9420	2652	OMIM:270800	Spastic paraplegia 5A, autosomal recessive			57
HP:0001276	HP:0001276	Hypertonia	0	DAB1 CL E G H	1600	2661	ORPHA:363710	Spinocerebellar ataxia type 37			4
HP:0001276	HP:0001276	Hypertonia	0	DALRD3 CL E G H	55152	25536	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001276	HP:0001276	Hypertonia	0	DAO CL E G H	1610	2671	ORPHA:803	Amyotrophic lateral sclerosis
HP:0001276	HP:0001276	Hypertonia	0	DARS1 CL E G H	1615	2678	OMIM:615281	HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0001276	HP:0001276	Hypertonia	0	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	HP:0040284 - Very rare		60
HP:0001276	HP:0001276	Hypertonia	0	DARS2 CL E G H	55157	25538	OMIM:611105	Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation			60
HP:0001276	HP:0001276	Hypertonia	0	DBT CL E G H	1629	2698	OMIM:248600	Maple syrup urine disease	.		156
HP:0001276	HP:0001276	Hypertonia	0	DCTN1 CL E G H	1639	2711	ORPHA:803	Amyotrophic lateral sclerosis			86
HP:0001276	HP:0001276	Hypertonia	0	DCTN1 CL E G H	1639	2711	OMIM:105400	Amyotrophic lateral sclerosis 1			86
HP:0001276	HP:0001276	Hypertonia	0	DCTN1 CL E G H	1639	2711	OMIM:168605	Perry syndrome			86
HP:0001276	HP:0001276	Hypertonia	0	DCX CL E G H	1641	2714	OMIM:300067	Lissencephaly, X-linked, 1			145
HP:0001276	HP:0001276	Hypertonia	0	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum			30
HP:0001276	HP:0001276	Hypertonia	0	DDC CL E G H	1644	2719	OMIM:608643	Aromatic L-amino acid decarboxylase deficiency			43
HP:0001276	HP:0001276	Hypertonia	0	DDHD1 CL E G H	80821	19714	ORPHA:101008	Autosomal recessive spastic paraplegia type 28			35
HP:0001276	HP:0001276	Hypertonia	0	DDHD1 CL E G H	80821	19714	OMIM:609340	Spastic paraplegia 28, autosomal recessive			35
HP:0001276	HP:0001276	Hypertonia	0	DDHD2 CL E G H	23259	29106	ORPHA:320380	Autosomal recessive spastic paraplegia type 54			29
HP:0001276	HP:0001276	Hypertonia	0	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive			29
HP:0001276	HP:0001276	Hypertonia	0	DDX3X CL E G H	1654	2745	OMIM:300958	MENTAL RETARDATION, X-LINKED 102; MRX102			57
HP:0001276	HP:0001276	Hypertonia	0	DDX3X CL E G H	1654	2745	ORPHA:457260	X-linked intellectual disability-hypotonia-movement disorder syndrome			57
HP:0001276	HP:0001276	Hypertonia	0	DEGS1 CL E G H	8560	13709	OMIM:618404	Leukodystrophy, hypomyelinating, 18
HP:0001276	HP:0001276	Hypertonia	0	DENND5A CL E G H	23258	19344	OMIM:617281	Epileptic encephalopathy, early infantile, 49			6
HP:0001276	HP:0001276	Hypertonia	0	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS			72
HP:0001276	HP:0001276	Hypertonia	0	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis	HP:0040281 - Very frequent		72
HP:0001276	HP:0001276	Hypertonia	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0001276	HP:0001276	Hypertonia	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040283 - Occasional		159
HP:0001276	HP:0001276	Hypertonia	0	DHDDS CL E G H	79947	20603	OMIM:617836	Developmental delay and seizures with or without movement abnormalities			47
HP:0001276	HP:0001276	Hypertonia	0	DHDDS CL E G H	79947	20603	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			47
HP:0001276	HP:0001276	Hypertonia	0	DHDDS CL E G H	79947	20603	OMIM:613861	Retinitis pigmentosa 59			47
HP:0001276	HP:0001276	Hypertonia	0	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0001276	HP:0001276	Hypertonia	0	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly			22
HP:0001276	HP:0001276	Hypertonia	0	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly			22
HP:0001276	HP:0001276	Hypertonia	0	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			22
HP:0001276	HP:0001276	Hypertonia	0	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly			22
HP:0001276	HP:0001276	Hypertonia	0	DKC1 CL E G H	1736	2890	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent		65
HP:0001276	HP:0001276	Hypertonia	0	DLAT CL E G H	1737	2896	ORPHA:79244	Pyruvate dehydrogenase E2 deficiency	HP:0040282 - Frequent		82
HP:0001276	HP:0001276	Hypertonia	0	DLD CL E G H	1738	2898	ORPHA:2394	Pyruvate dehydrogenase E3 deficiency			89
HP:0001276	HP:0001276	Hypertonia	0	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly			3
HP:0001276	HP:0001276	Hypertonia	0	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly			3
HP:0001276	HP:0001276	Hypertonia	0	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			3
HP:0001276	HP:0001276	Hypertonia	0	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly			3
HP:0001276	HP:0001276	Hypertonia	0	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		9
HP:0001276	HP:0001276	Hypertonia	0	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy			3
HP:0001276	HP:0001276	Hypertonia	0	DNAJC12 CL E G H	56521	28908	OMIM:617384	Hyperphenylalaninemia, MILD, non-bh4-deficient	.		3
HP:0001276	HP:0001276	Hypertonia	0	DNAJC13 CL E G H	23317	30343	ORPHA:411602	Hereditary late-onset Parkinson disease			2
HP:0001276	HP:0001276	Hypertonia	0	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia			25
HP:0001276	HP:0001276	Hypertonia	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0001276	HP:0001276	Hypertonia	0	DNAJC6 CL E G H	9829	15469	ORPHA:391411	Atypical juvenile parkinsonism			6
HP:0001276	HP:0001276	Hypertonia	0	DNAJC6 CL E G H	9829	15469	OMIM:615528	Parkinson disease 19a, juvenile-onset			6
HP:0001276	HP:0001276	Hypertonia	0	DNAJC6 CL E G H	9829	15469	ORPHA:2828	Young-onset Parkinson disease			6
HP:0001276	HP:0001276	Hypertonia	0	DNM1 CL E G H	1759	2972	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			72
HP:0001276	HP:0001276	Hypertonia	0	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form			94
HP:0001276	HP:0001276	Hypertonia	0	DNMT1 CL E G H	1786	2976	ORPHA:314404	Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome			145
HP:0001276	HP:0001276	Hypertonia	0	DNMT1 CL E G H	1786	2976	OMIM:604121	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant			145
HP:0001276	HP:0001276	Hypertonia	0	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		18
HP:0001276	HP:0001276	Hypertonia	0	DPAGT1 CL E G H	1798	2995	OMIM:608093	Congenital disorder of glycosylation, type Ij	.		38
HP:0001276	HP:0001276	Hypertonia	0	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG	HP:0040283 - Occasional		38
HP:0001276	HP:0001276	Hypertonia	0	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0001276	HP:0001276	Hypertonia	0	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG			27
HP:0001276	HP:0001276	Hypertonia	0	DPYD CL E G H	1806	3012	OMIM:274270	Dihydropyrimidine dehydrogenase deficiency	.		144
HP:0001276	HP:0001276	Hypertonia	0	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency	HP:0040283 - Occasional		144
HP:0001276	HP:0001276	Hypertonia	0	DSTYK CL E G H	25778	29043	ORPHA:101003	Autosomal recessive spastic paraplegia type 23			13
HP:0001276	HP:0001276	Hypertonia	0	DSTYK CL E G H	25778	29043	OMIM:270750	Spastic paraplegia 23			13
HP:0001276	HP:0001276	Hypertonia	0	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0001276	HP:0001276	Hypertonia	0	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease			65
HP:0001276	HP:0001276	Hypertonia	0	DYNC1H1 CL E G H	1778	2961	OMIM:614563	Mental retardation, autosomal dominant 13			427
HP:0001276	HP:0001276	Hypertonia	0	DYNC1I2 CL E G H	1781	2964	OMIM:618492	Neurodevelopmental disorder with microcephaly and structural brain anomalies			1
HP:0001276	HP:0001276	Hypertonia	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040283 - Occasional		134
HP:0001276	HP:0001276	Hypertonia	0	EARS2 CL E G H	124454	29419	OMIM:614924	Combined oxidative phosphorylation deficiency 12			80
HP:0001276	HP:0001276	Hypertonia	0	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome			51
HP:0001276	HP:0001276	Hypertonia	0	EBP CL E G H	10682	3133	OMIM:300960	Mend syndrome	.		51
HP:0001276	HP:0001276	Hypertonia	0	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy			33
HP:0001276	HP:0001276	Hypertonia	0	ECHS1 CL E G H	1892	3151	OMIM:616277	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency			33
HP:0001276	HP:0001276	Hypertonia	0	EDNRB CL E G H	1910	3180	OMIM:277580	Waardenburg-Shah syndrome			55
HP:0001276	HP:0001276	Hypertonia	0	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent		4
HP:0001276	HP:0001276	Hypertonia	0	EEF1A2 CL E G H	1917	3192	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			60
HP:0001276	HP:0001276	Hypertonia	0	EIF2AK1 CL E G H	27102	24921	OMIM:618878	LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME; LEMSPAD
HP:0001276	HP:0001276	Hypertonia	0	EIF2AK2 CL E G H	5610	9437	OMIM:619687	DYSTONIA 33; DYT33
HP:0001276	HP:0001276	Hypertonia	0	EIF2AK2 CL E G H	5610	9437	ORPHA:256	Early-onset generalized limb-onset dystonia	HP:0040281 - Very frequent
HP:0001276	HP:0001276	Hypertonia	0	EIF2AK2 CL E G H	5610	9437	OMIM:618877	LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0001276	HP:0001276	Hypertonia	0	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus	.		65
HP:0001276	HP:0001276	Hypertonia	0	EIF2B1 CL E G H	1967	3257	OMIM:603896	Leukoencephalopathy with vanishing white matter			42
HP:0001276	HP:0001276	Hypertonia	0	EIF2B2 CL E G H	8892	3258	OMIM:603896	Leukoencephalopathy with vanishing white matter			24
HP:0001276	HP:0001276	Hypertonia	0	EIF2B3 CL E G H	8891	3259	OMIM:603896	Leukoencephalopathy with vanishing white matter			32
HP:0001276	HP:0001276	Hypertonia	0	EIF2B4 CL E G H	8890	3260	OMIM:603896	Leukoencephalopathy with vanishing white matter			38
HP:0001276	HP:0001276	Hypertonia	0	EIF2B5 CL E G H	8893	3261	OMIM:603896	Leukoencephalopathy with vanishing white matter			48
HP:0001276	HP:0001276	Hypertonia	0	EIF2S3 CL E G H	1968	3267	ORPHA:85282	MEHMO syndrome	HP:0040282 - Frequent		8
HP:0001276	HP:0001276	Hypertonia	0	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome			8
HP:0001276	HP:0001276	Hypertonia	0	EIF4G1 CL E G H	1981	3296	ORPHA:411602	Hereditary late-onset Parkinson disease			2
HP:0001276	HP:0001276	Hypertonia	0	EIF4G1 CL E G H	1981	3296	OMIM:614251	Parkinson disease 18			2
HP:0001276	HP:0001276	Hypertonia	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0001276	HP:0001276	Hypertonia	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0001276	HP:0001276	Hypertonia	0	ELOVL1 CL E G H	64834	14418	OMIM:618527	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0001276	HP:0001276	Hypertonia	0	ELOVL4 CL E G H	6785	14415	OMIM:614457	Ichthyosis, spastic quadriplegia, and mental retardation	.		62
HP:0001276	HP:0001276	Hypertonia	0	ELOVL4 CL E G H	6785	14415	OMIM:133190	Spinocerebellar ataxia 34			62
HP:0001276	HP:0001276	Hypertonia	0	ELP2 CL E G H	55250	18248	OMIM:617270	Mental retardation, autosomal recessive 58			6
HP:0001276	HP:0001276	Hypertonia	0	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation			5
HP:0001276	HP:0001276	Hypertonia	0	EMC1 CL E G H	23065	28957	ORPHA:480898	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome			5
HP:0001276	HP:0001276	Hypertonia	0	EML1 CL E G H	2009	3330	OMIM:600348	Band heterotopia			3
HP:0001276	HP:0001276	Hypertonia	0	ENTPD1 CL E G H	953	3363	ORPHA:401810	Autosomal recessive spastic paraplegia type 64			3
HP:0001276	HP:0001276	Hypertonia	0	ENTPD1 CL E G H	953	3363	OMIM:615683	Spastic paraplegia 64, autosomal recessive			3
HP:0001276	HP:0001276	Hypertonia	0	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		4
HP:0001276	HP:0001276	Hypertonia	0	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent		170
HP:0001276	HP:0001276	Hypertonia	0	EPHA4 CL E G H	2043	3388	ORPHA:803	Amyotrophic lateral sclerosis			4
HP:0001276	HP:0001276	Hypertonia	0	EPM2A CL E G H	7957	3413	ORPHA:501	Lafora disease			83
HP:0001276	HP:0001276	Hypertonia	0	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15
HP:0001276	HP:0001276	Hypertonia	0	ERBB4 CL E G H	2066	3432	ORPHA:803	Amyotrophic lateral sclerosis			15
HP:0001276	HP:0001276	Hypertonia	0	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4	.		20
HP:0001276	HP:0001276	Hypertonia	0	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2			20
HP:0001276	HP:0001276	Hypertonia	0	ERCC1 CL E G H	2067	3433	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent		20
HP:0001276	HP:0001276	Hypertonia	0	ERCC2 CL E G H	2068	3434	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent		106
HP:0001276	HP:0001276	Hypertonia	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		106
HP:0001276	HP:0001276	Hypertonia	0	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum			106
HP:0001276	HP:0001276	Hypertonia	0	ERCC2 CL E G H	2068	3434	OMIM:278730	Xeroderma pigmentosum, complementation group D			106
HP:0001276	HP:0001276	Hypertonia	0	ERCC2 CL E G H	2068	3434	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			106
HP:0001276	HP:0001276	Hypertonia	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		54
HP:0001276	HP:0001276	Hypertonia	0	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum			54
HP:0001276	HP:0001276	Hypertonia	0	ERCC3 CL E G H	2071	3435	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			54
HP:0001276	HP:0001276	Hypertonia	0	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1			158
HP:0001276	HP:0001276	Hypertonia	0	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum			158
HP:0001276	HP:0001276	Hypertonia	0	ERCC4 CL E G H	2072	3436	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			158
HP:0001276	HP:0001276	Hypertonia	0	ERCC5 CL E G H	2073	3437	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent		83
HP:0001276	HP:0001276	Hypertonia	0	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum			83
HP:0001276	HP:0001276	Hypertonia	0	ERCC5 CL E G H	2073	3437	OMIM:278780	Xeroderma pigmentosum, complementation group G			83
HP:0001276	HP:0001276	Hypertonia	0	ERCC5 CL E G H	2073	3437	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			83
HP:0001276	HP:0001276	Hypertonia	0	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1			199
HP:0001276	HP:0001276	Hypertonia	0	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2			199
HP:0001276	HP:0001276	Hypertonia	0	ERCC6 CL E G H	2074	3438	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent		199
HP:0001276	HP:0001276	Hypertonia	0	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome			199
HP:0001276	HP:0001276	Hypertonia	0	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1			55
HP:0001276	HP:0001276	Hypertonia	0	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2			55
HP:0001276	HP:0001276	Hypertonia	0	ERLIN1 CL E G H	10613	16947	ORPHA:401785	Autosomal recessive spastic paraplegia type 62			2
HP:0001276	HP:0001276	Hypertonia	0	ERLIN1 CL E G H	10613	16947	OMIM:615681	Spastic paraplegia 62, autosomal recessive			2
HP:0001276	HP:0001276	Hypertonia	0	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18			18
HP:0001276	HP:0001276	Hypertonia	0	ERLIN2 CL E G H	11160	1356	ORPHA:247604	Juvenile primary lateral sclerosis			18
HP:0001276	HP:0001276	Hypertonia	0	ERLIN2 CL E G H	11160	1356	OMIM:611225	Spastic paraplegia 18, autosomal recessive			18
HP:0001276	HP:0001276	Hypertonia	0	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH			1
HP:0001276	HP:0001276	Hypertonia	0	EXOC8 CL E G H	149371	24659	OMIM:619076	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY; NEDMISB			1
HP:0001276	HP:0001276	Hypertonia	0	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1			38
HP:0001276	HP:0001276	Hypertonia	0	EXOSC3 CL E G H	51010	17944	OMIM:614678	Pontocerebellar hypoplasia, type 1B			38
HP:0001276	HP:0001276	Hypertonia	0	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0001276	HP:0001276	Hypertonia	0	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1			4
HP:0001276	HP:0001276	Hypertonia	0	EXOSC8 CL E G H	11340	17035	OMIM:616081	Pontocerebellar hypoplasia, type 1C			4
HP:0001276	HP:0001276	Hypertonia	0	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0001276	HP:0001276	Hypertonia	0	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D
HP:0001276	HP:0001276	Hypertonia	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional		3
HP:0001276	HP:0001276	Hypertonia	0	EYA1 CL E G H	2138	3519	ORPHA:2792	Otofaciocervical syndrome	HP:0040281 - Very frequent		135
HP:0001276	HP:0001276	Hypertonia	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.		81
HP:0001276	HP:0001276	Hypertonia	0	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent		81
HP:0001276	HP:0001276	Hypertonia	0	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35			76
HP:0001276	HP:0001276	Hypertonia	0	FA2H CL E G H	79152	21197	ORPHA:329308	Fatty acid hydroxylase-associated neurodegeneration			76
HP:0001276	HP:0001276	Hypertonia	0	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive			76
HP:0001276	HP:0001276	Hypertonia	0	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent		15
HP:0001276	HP:0001276	Hypertonia	0	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A			7
HP:0001276	HP:0001276	Hypertonia	0	FAR1 CL E G H	84188	26222	OMIM:619338	CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY; CSPSD			7
HP:0001276	HP:0001276	Hypertonia	0	FAR1 CL E G H	84188	26222	ORPHA:438178	Fatty acyl-CoA reductase 1 deficiency			7
HP:0001276	HP:0001276	Hypertonia	0	FAR1 CL E G H	84188	26222	OMIM:616154	PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD			7
HP:0001276	HP:0001276	Hypertonia	0	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77			36
HP:0001276	HP:0001276	Hypertonia	0	FARS2 CL E G H	10667	21062	OMIM:617046	Spastic paraplegia 77, autosomal recessive			36
HP:0001276	HP:0001276	Hypertonia	0	FBLN1 CL E G H	2192	3600	ORPHA:404451	FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome			12
HP:0001276	HP:0001276	Hypertonia	0	FBXO7 CL E G H	25793	13586	OMIM:260300	Parkinson disease 15, autosomal recessive early-onset			36
HP:0001276	HP:0001276	Hypertonia	0	FBXO7 CL E G H	25793	13586	ORPHA:171695	Parkinsonian-pyramidal syndrome			36
HP:0001276	HP:0001276	Hypertonia	0	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0001276	HP:0001276	Hypertonia	0	FCSK CL E G H	197258	29500	OMIM:618324	Congenital disorder of glycosylation with defective fucosylation 2
HP:0001276	HP:0001276	Hypertonia	0	FDX2 CL E G H	112812	30546	OMIM:251900	Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
HP:0001276	HP:0001276	Hypertonia	0	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome	HP:0040283 - Occasional
HP:0001276	HP:0001276	Hypertonia	0	FGF12 CL E G H	2257	3668	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0001276	HP:0001276	Hypertonia	0	FGF13 CL E G H	2258	3670	OMIM:301058	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90			1
HP:0001276	HP:0001276	Hypertonia	0	FGF13 CL E G H	2258	3670	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0001276	HP:0001276	Hypertonia	0	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly			17
HP:0001276	HP:0001276	Hypertonia	0	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly			17
HP:0001276	HP:0001276	Hypertonia	0	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			17
HP:0001276	HP:0001276	Hypertonia	0	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly			17
HP:0001276	HP:0001276	Hypertonia	0	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040282 - Frequent		172
HP:0001276	HP:0001276	Hypertonia	0	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly			172
HP:0001276	HP:0001276	Hypertonia	0	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly			172
HP:0001276	HP:0001276	Hypertonia	0	FIG4 CL E G H	9896	16873	ORPHA:803	Amyotrophic lateral sclerosis			111
HP:0001276	HP:0001276	Hypertonia	0	FIG4 CL E G H	9896	16873	ORPHA:208441	Bilateral parasagittal parieto-occipital polymicrogyria			111
HP:0001276	HP:0001276	Hypertonia	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0001276	HP:0001276	Hypertonia	0	FKRP CL E G H	79147	17997	ORPHA:588	Muscle-eye-brain disease	HP:0040282 - Frequent		157
HP:0001276	HP:0001276	Hypertonia	0	FKTN CL E G H	2218	3622	ORPHA:588	Muscle-eye-brain disease	HP:0040282 - Frequent		184
HP:0001276	HP:0001276	Hypertonia	0	FLNA CL E G H	2316	3754	OMIM:300048	Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked			493
HP:0001276	HP:0001276	Hypertonia	0	FLRT1 CL E G H	23769	3760	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome
HP:0001276	HP:0001276	Hypertonia	0	FMR1 CL E G H	2332	3775	ORPHA:93256	Fragile X-associated tremor/ataxia syndrome			30
HP:0001276	HP:0001276	Hypertonia	0	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant			177
HP:0001276	HP:0001276	Hypertonia	0	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly			48
HP:0001276	HP:0001276	Hypertonia	0	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly			48
HP:0001276	HP:0001276	Hypertonia	0	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			48
HP:0001276	HP:0001276	Hypertonia	0	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly			48
HP:0001276	HP:0001276	Hypertonia	0	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome			184
HP:0001276	HP:0001276	Hypertonia	0	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy			61
HP:0001276	HP:0001276	Hypertonia	0	FOXRED1 CL E G H	55572	26927	OMIM:618241	Mitochondrial complex I deficiency, nuclear type 19			61
HP:0001276	HP:0001276	Hypertonia	0	FRMD4A CL E G H	55691	25491	ORPHA:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome	HP:0040282 - Frequent		1
HP:0001276	HP:0001276	Hypertonia	0	FRMD5 CL E G H	84978	28214	OMIM:620094
HP:0001276	HP:0001276	Hypertonia	0	FRMPD4 CL E G H	9758	29007	OMIM:300983	MENTAL RETARDATION, X-LINKED 104; MRX104			32
HP:0001276	HP:0001276	Hypertonia	0	FRRS1L CL E G H	23732	1362	OMIM:616981	Epileptic encephalopathy, early infantile, 37			4
HP:0001276	HP:0001276	Hypertonia	0	FTL CL E G H	2512	3999	OMIM:606159	Neurodegeneration with brain iron accumulation 3			33
HP:0001276	HP:0001276	Hypertonia	0	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath	.		70
HP:0001276	HP:0001276	Hypertonia	0	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS			43
HP:0001276	HP:0001276	Hypertonia	0	FUCA1 CL E G H	2517	4006	ORPHA:349	Fucosidosis			43
HP:0001276	HP:0001276	Hypertonia	0	FUS CL E G H	2521	4010	ORPHA:803	Amyotrophic lateral sclerosis			105
HP:0001276	HP:0001276	Hypertonia	0	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040282 - Frequent		105
HP:0001276	HP:0001276	Hypertonia	0	FUZ CL E G H	80199	26219	ORPHA:1136	Arnold-Chiari malformation type II			3
HP:0001276	HP:0001276	Hypertonia	0	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia			18
HP:0001276	HP:0001276	Hypertonia	0	FZR1 CL E G H	51343	24824	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001276	HP:0001276	Hypertonia	0	GABBR2 CL E G H	9568	4507	ORPHA:3095	Atypical Rett syndrome			5
HP:0001276	HP:0001276	Hypertonia	0	GABBR2 CL E G H	9568	4507	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			5
HP:0001276	HP:0001276	Hypertonia	0	GABRA1 CL E G H	2554	4075	ORPHA:33069	Dravet syndrome			134
HP:0001276	HP:0001276	Hypertonia	0	GABRA2 CL E G H	2555	4076	OMIM:618557	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 78; DEE78			4
HP:0001276	HP:0001276	Hypertonia	0	GABRA2 CL E G H	2555	4076	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			4
HP:0001276	HP:0001276	Hypertonia	0	GABRA5 CL E G H	2558	4079	OMIM:618559	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79; DEE79
HP:0001276	HP:0001276	Hypertonia	0	GABRA5 CL E G H	2558	4079	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001276	HP:0001276	Hypertonia	0	GABRB2 CL E G H	2561	4082	OMIM:617829	Epileptic encephalopathy, infantile or early childhood, 2			44
HP:0001276	HP:0001276	Hypertonia	0	GABRB2 CL E G H	2561	4082	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			44
HP:0001276	HP:0001276	Hypertonia	0	GABRG2 CL E G H	2566	4087	ORPHA:33069	Dravet syndrome			139
HP:0001276	HP:0001276	Hypertonia	0	GABRG2 CL E G H	2566	4087	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			139
HP:0001276	HP:0001276	Hypertonia	0	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89			44
HP:0001276	HP:0001276	Hypertonia	0	GALC CL E G H	2581	4115	ORPHA:206448	Adult Krabbe disease			160
HP:0001276	HP:0001276	Hypertonia	0	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease			160
HP:0001276	HP:0001276	Hypertonia	0	GALC CL E G H	2581	4115	OMIM:245200	Krabbe disease	.		160
HP:0001276	HP:0001276	Hypertonia	0	GALC CL E G H	2581	4115	ORPHA:206443	Late-infantile/juvenile Krabbe disease			160
HP:0001276	HP:0001276	Hypertonia	0	GAMT CL E G H	2593	4136	OMIM:612736	Cerebral creatine deficiency syndrome 2	.		91
HP:0001276	HP:0001276	Hypertonia	0	GAN CL E G H	8139	4137	ORPHA:643	Giant axonal neuropathy			121
HP:0001276	HP:0001276	Hypertonia	0	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive			121
HP:0001276	HP:0001276	Hypertonia	0	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly			2
HP:0001276	HP:0001276	Hypertonia	0	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly			2
HP:0001276	HP:0001276	Hypertonia	0	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			2
HP:0001276	HP:0001276	Hypertonia	0	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly			2
HP:0001276	HP:0001276	Hypertonia	0	GATAD2B CL E G H	57459	30778	ORPHA:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome			33
HP:0001276	HP:0001276	Hypertonia	0	GBA1 CL E G H	2629	4177	ORPHA:85212	Fetal Gaucher disease	HP:0040282 - Frequent
HP:0001276	HP:0001276	Hypertonia	0	GBA1 CL E G H	2629	4177	ORPHA:77260	Gaucher disease type 2
HP:0001276	HP:0001276	Hypertonia	0	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0001276	HP:0001276	Hypertonia	0	GBA1 CL E G H	2629	4177	OMIM:230900	Gaucher disease, type II
HP:0001276	HP:0001276	Hypertonia	0	GBA1 CL E G H	2629	4177	OMIM:231000	Gaucher disease, type III
HP:0001276	HP:0001276	Hypertonia	0	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040284 - Very rare
HP:0001276	HP:0001276	Hypertonia	0	GBA1 CL E G H	2629	4177	ORPHA:411602	Hereditary late-onset Parkinson disease
HP:0001276	HP:0001276	Hypertonia	0	GBA1 CL E G H	2629	4177	OMIM:168600	Parkinson disease, late-onset
HP:0001276	HP:0001276	Hypertonia	0	GBA2 CL E G H	57704	18986	ORPHA:352641	Autosomal recessive cerebellar ataxia with late-onset spasticity			30
HP:0001276	HP:0001276	Hypertonia	0	GBA2 CL E G H	57704	18986	ORPHA:320391	Autosomal recessive spastic paraplegia type 46			30
HP:0001276	HP:0001276	Hypertonia	0	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive			30
HP:0001276	HP:0001276	Hypertonia	0	GBE1 CL E G H	2632	4180	ORPHA:206583	Adult polyglucosan body disease			86
HP:0001276	HP:0001276	Hypertonia	0	GBE1 CL E G H	2632	4180	OMIM:263570	Polyglucosan body neuropathy, adult form			86
HP:0001276	HP:0001276	Hypertonia	0	GCDH CL E G H	2639	4189	OMIM:231670	Glutaric acidemia I			115
HP:0001276	HP:0001276	Hypertonia	0	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency			115
HP:0001276	HP:0001276	Hypertonia	0	GCH1 CL E G H	2643	4193	ORPHA:98808	Autosomal dominant dopa-responsive dystonia			86
HP:0001276	HP:0001276	Hypertonia	0	GCH1 CL E G H	2643	4193	OMIM:128230	Dystonia, DOPA-responsive, with or without hyperphenylalaninemia			86
HP:0001276	HP:0001276	Hypertonia	0	GCH1 CL E G H	2643	4193	OMIM:233910	Hyperphenylalaninemia, BH4-deficient, B			86
HP:0001276	HP:0001276	Hypertonia	0	GDAP2 CL E G H	54834	18010	OMIM:618369	Spinocerebellar ataxia, autosomal recessive 27
HP:0001276	HP:0001276	Hypertonia	0	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities			1
HP:0001276	HP:0001276	Hypertonia	0	GFAP CL E G H	2670	4235	OMIM:203450	Alexander disease			188
HP:0001276	HP:0001276	Hypertonia	0	GFAP CL E G H	2670	4235	ORPHA:363717	Alexander disease type I			188
HP:0001276	HP:0001276	Hypertonia	0	GFAP CL E G H	2670	4235	ORPHA:363722	Alexander disease type II			188
HP:0001276	HP:0001276	Hypertonia	0	GFM1 CL E G H	85476	13780	OMIM:609060	Combined oxidative phosphorylation deficiency 1			85
HP:0001276	HP:0001276	Hypertonia	0	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39			43
HP:0001276	HP:0001276	Hypertonia	0	GFM2 CL E G H	84340	29682	OMIM:618397	Combined oxidative phosphorylation deficiency 39			43
HP:0001276	HP:0001276	Hypertonia	0	GIGYF2 CL E G H	26058	11960	ORPHA:411602	Hereditary late-onset Parkinson disease			8
HP:0001276	HP:0001276	Hypertonia	0	GIGYF2 CL E G H	26058	11960	OMIM:607688	PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK11			8
HP:0001276	HP:0001276	Hypertonia	0	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia			68
HP:0001276	HP:0001276	Hypertonia	0	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia			68
HP:0001276	HP:0001276	Hypertonia	0	GJB1 CL E G H	2705	4283	ORPHA:1175	X-linked progressive cerebellar ataxia			107
HP:0001276	HP:0001276	Hypertonia	0	GJC2 CL E G H	57165	17494	ORPHA:320401	Autosomal recessive spastic paraplegia type 44			37
HP:0001276	HP:0001276	Hypertonia	0	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2			37
HP:0001276	HP:0001276	Hypertonia	0	GJC2 CL E G H	57165	17494	OMIM:613206	Spastic paraplegia 44, autosomal recessive			37
HP:0001276	HP:0001276	Hypertonia	0	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1			120
HP:0001276	HP:0001276	Hypertonia	0	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I			120
HP:0001276	HP:0001276	Hypertonia	0	GLB1 CL E G H	2720	4298	OMIM:230600	Gm1-gangliosidosis, type II			120
HP:0001276	HP:0001276	Hypertonia	0	GLE1 CL E G H	2733	4315	ORPHA:803	Amyotrophic lateral sclerosis			45
HP:0001276	HP:0001276	Hypertonia	0	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly			173
HP:0001276	HP:0001276	Hypertonia	0	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly			173
HP:0001276	HP:0001276	Hypertonia	0	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			173
HP:0001276	HP:0001276	Hypertonia	0	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly			173
HP:0001276	HP:0001276	Hypertonia	0	GLRA1 CL E G H	2741	4326	ORPHA:3197	Hereditary hyperekplexia	HP:0040281 - Very frequent		63
HP:0001276	HP:0001276	Hypertonia	0	GLRA1 CL E G H	2741	4326	OMIM:149400	Hyperekplexia 1	.		63
HP:0001276	HP:0001276	Hypertonia	0	GLRB CL E G H	2743	4329	ORPHA:3197	Hereditary hyperekplexia	HP:0040281 - Very frequent		46
HP:0001276	HP:0001276	Hypertonia	0	GLRB CL E G H	2743	4329	OMIM:614619	Hyperekplexia 2	.		46
HP:0001276	HP:0001276	Hypertonia	0	GLRX5 CL E G H	51218	20134	ORPHA:401866	Childhood-onset spasticity with hyperglycinemia	HP:0040282 - Frequent		17
HP:0001276	HP:0001276	Hypertonia	0	GLRX5 CL E G H	51218	20134	OMIM:616859	Spasticity, childhood-onset, with hyperglycinemia			17
HP:0001276	HP:0001276	Hypertonia	0	GLT8D1 CL E G H	55830	24870	ORPHA:803	Amyotrophic lateral sclerosis
HP:0001276	HP:0001276	Hypertonia	0	GLUD2 CL E G H	2747	4336	OMIM:168600	Parkinson disease, late-onset			1
HP:0001276	HP:0001276	Hypertonia	0	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA			6
HP:0001276	HP:0001276	Hypertonia	0	GLYCTK CL E G H	132158	24247	ORPHA:941	D-glyceric aciduria			6
HP:0001276	HP:0001276	Hypertonia	0	GM2A CL E G H	2760	4367	ORPHA:309246	GM2 gangliosidosis, AB variant			69
HP:0001276	HP:0001276	Hypertonia	0	GM2A CL E G H	2760	4367	OMIM:272750	Gm2-Gangliosidosis, ab variant	.		69
HP:0001276	HP:0001276	Hypertonia	0	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome			24
HP:0001276	HP:0001276	Hypertonia	0	GMPPB CL E G H	29925	22932	ORPHA:588	Muscle-eye-brain disease	HP:0040282 - Frequent		34
HP:0001276	HP:0001276	Hypertonia	0	GMPPB CL E G H	29925	22932	OMIM:615351	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14	.		34
HP:0001276	HP:0001276	Hypertonia	0	GNAI1 CL E G H	2770	4384	OMIM:619854
HP:0001276	HP:0001276	Hypertonia	0	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy			36
HP:0001276	HP:0001276	Hypertonia	0	GNAO1 CL E G H	2775	4389	OMIM:617493	Neurodevelopmental disorder with involuntary movements			36
HP:0001276	HP:0001276	Hypertonia	0	GNB1 CL E G H	2782	4396	ORPHA:488613	Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome			12
HP:0001276	HP:0001276	Hypertonia	0	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0001276	HP:0001276	Hypertonia	0	GOT2 CL E G H	2806	4433	OMIM:618721	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82
HP:0001276	HP:0001276	Hypertonia	0	GPAA1 CL E G H	8733	4446	OMIM:617810	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15
HP:0001276	HP:0001276	Hypertonia	0	GPAA1 CL E G H	8733	4446	ORPHA:529665	Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome
HP:0001276	HP:0001276	Hypertonia	0	GPHN CL E G H	10243	15465	ORPHA:3197	Hereditary hyperekplexia	HP:0040281 - Very frequent		18
HP:0001276	HP:0001276	Hypertonia	0	GPHN CL E G H	10243	15465	OMIM:149400	Hyperekplexia 1	.		18
HP:0001276	HP:0001276	Hypertonia	0	GPHN CL E G H	10243	15465	OMIM:615501	Molybdenum cofactor deficiency, complementation group C	.		18
HP:0001276	HP:0001276	Hypertonia	0	GPT2 CL E G H	84706	18062	OMIM:616281	Mental retardation, autosomal recessive 49			4
HP:0001276	HP:0001276	Hypertonia	0	GPT2 CL E G H	84706	18062	ORPHA:477673	Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome			4
HP:0001276	HP:0001276	Hypertonia	0	GRIA2 CL E G H	2891	4572	OMIM:618917	NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; NEDLIB			1
HP:0001276	HP:0001276	Hypertonia	0	GRIA3 CL E G H	2892	4573	OMIM:300699	Mental retardation, X-linked 94			30
HP:0001276	HP:0001276	Hypertonia	0	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations			30
HP:0001276	HP:0001276	Hypertonia	0	GRIA4 CL E G H	2893	4574	OMIM:617864	Neurodevelopmental disorder with or without seizures and gait abnormalities	.	HP:0003623 - Neonatal onset
HP:0001276	HP:0001276	Hypertonia	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:0001276	HP:0001276	Hypertonia	0	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria			108
HP:0001276	HP:0001276	Hypertonia	0	GRIN1 CL E G H	2902	4584	OMIM:619814	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101; DEE101			108
HP:0001276	HP:0001276	Hypertonia	0	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy			108
HP:0001276	HP:0001276	Hypertonia	0	GRIN1 CL E G H	2902	4584	OMIM:614254	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant			108
HP:0001276	HP:0001276	Hypertonia	0	GRIN1 CL E G H	2902	4584	OMIM:617820	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive			108
HP:0001276	HP:0001276	Hypertonia	0	GRIN2A CL E G H	2903	4585	ORPHA:289266	Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation	HP:0040283 - Occasional		434
HP:0001276	HP:0001276	Hypertonia	0	GRIN2B CL E G H	2904	4586	OMIM:616139	Epileptic encephalopathy, early infantile, 27			274
HP:0001276	HP:0001276	Hypertonia	0	GRIN2B CL E G H	2904	4586	OMIM:613970	Mental retardation, autosomal dominant 6, with or without seizures			274
HP:0001276	HP:0001276	Hypertonia	0	GRIN2D CL E G H	2906	4588	OMIM:617162	Epileptic encephalopathy, early infantile, 46	.		2
HP:0001276	HP:0001276	Hypertonia	0	GRIN2D CL E G H	2906	4588	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			2
HP:0001276	HP:0001276	Hypertonia	0	GRM1 CL E G H	2911	4593	OMIM:617691	SPINOCEREBELLAR ATAXIA 44; SCA44			8
HP:0001276	HP:0001276	Hypertonia	0	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy			5
HP:0001276	HP:0001276	Hypertonia	0	GRM7 CL E G H	2917	4599	OMIM:618922	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA			5
HP:0001276	HP:0001276	Hypertonia	0	GSS CL E G H	2937	4624	OMIM:266130	Glutathione synthetase deficiency			39
HP:0001276	HP:0001276	Hypertonia	0	GSX2 CL E G H	170825	24959	OMIM:618646	DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2; DMJDS2
HP:0001276	HP:0001276	Hypertonia	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		2
HP:0001276	HP:0001276	Hypertonia	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0001276	HP:0001276	Hypertonia	0	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive			3
HP:0001276	HP:0001276	Hypertonia	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0001276	HP:0001276	Hypertonia	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0001276	HP:0001276	Hypertonia	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0001276	HP:0001276	Hypertonia	0	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0001276	HP:0001276	Hypertonia	0	GUF1 CL E G H	60558	25799	OMIM:617065	Epileptic encephalopathy, early infantile, 40			2
HP:0001276	HP:0001276	Hypertonia	0	H1-4 CL E G H	3008	4718	OMIM:617537	Rahman syndrome	.	HP:0003623 - Neonatal onset
HP:0001276	HP:0001276	Hypertonia	0	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0001276	HP:0001276	Hypertonia	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0001276	HP:0001276	Hypertonia	0	HACE1 CL E G H	57531	21033	OMIM:616756	Spastic paraplegia and psychomotor retardation with or without seizures			10
HP:0001276	HP:0001276	Hypertonia	0	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome			10
HP:0001276	HP:0001276	Hypertonia	0	HCN1 CL E G H	348980	4845	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			54
HP:0001276	HP:0001276	Hypertonia	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		37
HP:0001276	HP:0001276	Hypertonia	0	HEPACAM CL E G H	220296	26361	OMIM:604004	Megalencephalic leukoencephalopathy with subcortical cysts 1			82
HP:0001276	HP:0001276	Hypertonia	0	HEPACAM CL E G H	220296	26361	OMIM:613925	Megalencephalic leukoencephalopathy with subcortical cysts 2A	.		82
HP:0001276	HP:0001276	Hypertonia	0	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease			80
HP:0001276	HP:0001276	Hypertonia	0	HEXB CL E G H	3074	4879	ORPHA:309169	Sandhoff disease, adult form			80
HP:0001276	HP:0001276	Hypertonia	0	HEXB CL E G H	3074	4879	ORPHA:309155	Sandhoff disease, infantile form			80
HP:0001276	HP:0001276	Hypertonia	0	HID1 CL E G H	283987	15736	OMIM:619983
HP:0001276	HP:0001276	Hypertonia	0	HIKESHI CL E G H	51501	26938	OMIM:616881	Leukodystrophy, hypomyelinating, 13	.		3
HP:0001276	HP:0001276	Hypertonia	0	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA			11
HP:0001276	HP:0001276	Hypertonia	0	HLA-DQB1 CL E G H	3119	4944	OMIM:123400	Creutzfeldt-Jakob disease
HP:0001276	HP:0001276	Hypertonia	0	HLA-DQB1 CL E G H	3119	4944	OMIM:126200	Multiple sclerosis, susceptibility to
HP:0001276	HP:0001276	Hypertonia	0	HLA-DRB1 CL E G H	3123	4948	OMIM:126200	Multiple sclerosis, susceptibility to			2
HP:0001276	HP:0001276	Hypertonia	0	HLCS CL E G H	3141	4976	OMIM:253270	Holocarboxylase synthetase deficiency	.		148
HP:0001276	HP:0001276	Hypertonia	0	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria			35
HP:0001276	HP:0001276	Hypertonia	0	HMGCL CL E G H	3155	5005	OMIM:246450	3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency			35
HP:0001276	HP:0001276	Hypertonia	0	HNRNPA1 CL E G H	3178	5031	ORPHA:803	Amyotrophic lateral sclerosis			31
HP:0001276	HP:0001276	Hypertonia	0	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB			3
HP:0001276	HP:0001276	Hypertonia	0	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0001276	HP:0001276	Hypertonia	0	HPDL CL E G H	84842	28242	OMIM:619027	SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE; SPG83
HP:0001276	HP:0001276	Hypertonia	0	HPRT1 CL E G H	3251	5157	OMIM:300322	Lesch-Nyhan syndrome			76
HP:0001276	HP:0001276	Hypertonia	0	HPRT1 CL E G H	3251	5157	ORPHA:510	Lesch-Nyhan syndrome			76
HP:0001276	HP:0001276	Hypertonia	0	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0001276	HP:0001276	Hypertonia	0	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type			19
HP:0001276	HP:0001276	Hypertonia	0	HSD17B10 CL E G H	3028	4800	OMIM:300438	HSD10 mitochondrial disease			19
HP:0001276	HP:0001276	Hypertonia	0	HSD17B4 CL E G H	3295	5213	OMIM:233400	Perrault syndrome 1			98
HP:0001276	HP:0001276	Hypertonia	0	HSPD1 CL E G H	3329	5261	ORPHA:100994	Autosomal dominant spastic paraplegia type 13			46
HP:0001276	HP:0001276	Hypertonia	0	HSPD1 CL E G H	3329	5261	OMIM:612233	Leukodystrophy, hypomyelinating, 4			46
HP:0001276	HP:0001276	Hypertonia	0	HSPD1 CL E G H	3329	5261	OMIM:605280	Spastic paraplegia 13, autosomal dominant			46
HP:0001276	HP:0001276	Hypertonia	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040281 - Very frequent		345
HP:0001276	HP:0001276	Hypertonia	0	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)			34
HP:0001276	HP:0001276	Hypertonia	0	HTRA1 CL E G H	5654	9476	ORPHA:199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy			34
HP:0001276	HP:0001276	Hypertonia	0	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII	.		39
HP:0001276	HP:0001276	Hypertonia	0	HTRA2 CL E G H	27429	14348	OMIM:610297	PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK13			39
HP:0001276	HP:0001276	Hypertonia	0	HTRA2 CL E G H	27429	14348	ORPHA:2828	Young-onset Parkinson disease			39
HP:0001276	HP:0001276	Hypertonia	0	HTT CL E G H	3064	4851	OMIM:143100	Huntington disease			12
HP:0001276	HP:0001276	Hypertonia	0	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease			12
HP:0001276	HP:0001276	Hypertonia	0	HTT CL E G H	3064	4851	ORPHA:248111	Juvenile Huntington disease			12
HP:0001276	HP:0001276	Hypertonia	0	HTT CL E G H	3064	4851	OMIM:617435	Lopes-Maciel-Rodan syndrome	.		12
HP:0001276	HP:0001276	Hypertonia	0	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type			98
HP:0001276	HP:0001276	Hypertonia	0	IARS1 CL E G H	3376	5330	ORPHA:541423	Growth delay-intellectual disability-hepatopathy syndrome
HP:0001276	HP:0001276	Hypertonia	0	IARS1 CL E G H	3376	5330	OMIM:617093	Growth retardation, impaired intellectual development, hypotonia, and hepatopathy
HP:0001276	HP:0001276	Hypertonia	0	IBA57 CL E G H	200205	27302	ORPHA:468661	Autosomal recessive spastic paraplegia type 74			16
HP:0001276	HP:0001276	Hypertonia	0	IBA57 CL E G H	200205	27302	OMIM:615330	Multiple mitochondrial dysfunctions syndrome 3			16
HP:0001276	HP:0001276	Hypertonia	0	IBA57 CL E G H	200205	27302	OMIM:616451	Spastic paraplegia 74, autosomal recessive			16
HP:0001276	HP:0001276	Hypertonia	0	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome			115
HP:0001276	HP:0001276	Hypertonia	0	IDUA CL E G H	3425	5391	ORPHA:93474	Scheie syndrome			115
HP:0001276	HP:0001276	Hypertonia	0	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome	HP:0040281 - Very frequent		28
HP:0001276	HP:0001276	Hypertonia	0	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7			28
HP:0001276	HP:0001276	Hypertonia	0	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti			52
HP:0001276	HP:0001276	Hypertonia	0	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti			52
HP:0001276	HP:0001276	Hypertonia	0	IMPDH2 CL E G H	3615	6053	ORPHA:98808	Autosomal dominant dopa-responsive dystonia			1
HP:0001276	HP:0001276	Hypertonia	0	INPP5K CL E G H	51763	33882	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040282 - Frequent		7
HP:0001276	HP:0001276	Hypertonia	0	INPP5K CL E G H	51763	33882	OMIM:617404	Muscular dystrophy, congenital, with cataracts and intellectual disability			7
HP:0001276	HP:0001276	Hypertonia	0	INTS8 CL E G H	55656	26048	OMIM:618572	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY; NEDCHS			2
HP:0001276	HP:0001276	Hypertonia	0	IREB2 CL E G H	3658	6115	OMIM:618451	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
HP:0001276	HP:0001276	Hypertonia	0	IRF2BPL CL E G H	64207	14282	OMIM:618088	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
HP:0001276	HP:0001276	Hypertonia	0	ISCA1 CL E G H	81689	28660	OMIM:617613	Multiple mitochondrial dysfunctions syndrome 5			1
HP:0001276	HP:0001276	Hypertonia	0	ISCA2 CL E G H	122961	19857	OMIM:616370	Multiple mitochondrial dysfunctions syndrome 4			7
HP:0001276	HP:0001276	Hypertonia	0	ITM2B CL E G H	9445	6174	OMIM:176500	Cerebral amyloid angiopathy, itm2b-related, 1	.		3
HP:0001276