Human Phenotype Ontology 
Grandparent Node:
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Abnormal central motor function (HP:0011442)help
Parent Node:
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Abnormal muscle tone (HP:0003808)help
Parent Node:
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Upper motor neuron dysfunction (HP:0002493)help
..Starting node
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Hypertonia (HP:0001276)help
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:
........expandSpasticity (HP:0001257) help
................... 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
........expandLimb hypertonia (HP:0002509) help
................... HP:0006895 Lower limb hypertonia
................... HP:0200049 Upper limb hypertonia
........expandNeck hypertonia (HP:0031867) help

 Sister Nodes: 
..expandAbnormal pyramidal sign (HP:0007256) help
..expandDysfunction of lateral corticospinal tracts (HP:0007299) help
..expandWeakness due to upper motor neuron dysfunction (HP:0010549) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001276HP:0001276Hypertonia0AARS1 CL E G H1620OMIM:616339Epileptic encephalopathy, early infantile, 29
HP:0001276HP:0001276Hypertonia0AARS1 CL E G H1620OMIM:619661LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 2; HDLS2
HP:0001276HP:0001276Hypertonia0AARS1 CL E G H1620ORPHA:442835Non-specific early-onset epileptic encephalopathy
HP:0001276HP:0001276Hypertonia0AARS1 CL E G H1620OMIM:619691TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0001276HP:0001276Hypertonia0AARS2 CL E G H5750521022OMIM:615889Leukoencephalopathy, progressive, with ovarian failure143
HP:0001276HP:0001276Hypertonia0AASS CL E G H1015717366ORPHA:2203Hyperlysinemia15
HP:0001276HP:0001276Hypertonia0AASS CL E G H1015717366ORPHA:3124Saccharopinuria15
HP:0001276HP:0001276Hypertonia0ABCA12 CL E G H2615414637OMIM:242500Ichthyosis, congenital, autosomal recessive 4B130
HP:0001276HP:0001276Hypertonia0ABCA7 CL E G H1034737ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040281 - Very frequent3
HP:0001276HP:0001276Hypertonia0ABCC8 CL E G H683359OMIM:240800Hypoglycemia of infancy, leucine-sensitive245
HP:0001276HP:0001276Hypertonia0ABCD1 CL E G H21561OMIM:300100Adrenoleukodystrophy135
HP:0001276HP:0001276Hypertonia0ABCD1 CL E G H21561ORPHA:139399Adrenomyeloneuropathy135
HP:0001276HP:0001276Hypertonia0ABCD1 CL E G H21561ORPHA:139396X-linked cerebral adrenoleukodystrophy135
HP:0001276HP:0001276Hypertonia0ABHD12 CL E G H2609015868OMIM:612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract50
HP:0001276HP:0001276Hypertonia0ABHD16A CL E G H792013921OMIM:619735SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86
HP:0001276HP:0001276Hypertonia0ACADS CL E G H3590ORPHA:26792Short chain acyl-CoA dehydrogenase deficiencyHP:0040284 - Very rare90
HP:0001276HP:0001276Hypertonia0ACAT1 CL E G H3893ORPHA:134Beta-ketothiolase deficiency91
HP:0001276HP:0001276Hypertonia0ACD CL E G H6505725070ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040282 - Frequent11
HP:0001276HP:0001276Hypertonia0ACER3 CL E G H5533116066OMIM:617762Leukodystrophy, progressive, early childhood-onset
HP:0001276HP:0001276Hypertonia0ACOX1 CL E G H51119ORPHA:2971Peroxisomal acyl-CoA oxidase deficiencyHP:0040283 - Occasional120
HP:0001276HP:0001276Hypertonia0ACOX1 CL E G H51119OMIM:264470Peroxisomal acyl-coa oxidase deficiency.120
HP:0001276HP:0001276Hypertonia0ACP5 CL E G H54124ORPHA:1855Spondyloenchondrodysplasia16
HP:0001276HP:0001276Hypertonia0ACP5 CL E G H54124OMIM:607944Spondyloenchondrodysplasia with immune dysregulation16
HP:0001276HP:0001276Hypertonia0ACTA1 CL E G H58129OMIM:161800Nemaline myopathy 3HP:0040283 - Occasional96
HP:0001276HP:0001276Hypertonia0ACTL6B CL E G H51412160OMIM:618468DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE762
HP:0001276HP:0001276Hypertonia0ACTL6B CL E G H51412160ORPHA:442835Non-specific early-onset epileptic encephalopathy2
HP:0001276HP:0001276Hypertonia0ADAM22 CL E G H53616201OMIM:617933Epileptic encephalopathy, early infantile, 61
HP:0001276HP:0001276Hypertonia0ADAR CL E G H103225ORPHA:51Aicardi-Goutières syndromeHP:0040281 - Very frequent116
HP:0001276HP:0001276Hypertonia0ADAR CL E G H103225OMIM:615010Aicardi-Goutieres syndrome 6116
HP:0001276HP:0001276Hypertonia0ADAR CL E G H103225ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040283 - Occasional116
HP:0001276HP:0001276Hypertonia0ADARB1 CL E G H104226OMIM:618862NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS1
HP:0001276HP:0001276Hypertonia0ADAT3 CL E G H11317925151ORPHA:363528Intellectual disability-strabismus syndrome9
HP:0001276HP:0001276Hypertonia0ADAT3 CL E G H11317925151OMIM:615286Mental retardation, autosomal recessive 369
HP:0001276HP:0001276Hypertonia0ADCY5 CL E G H111236OMIM:606703Dyskinesia, familial, with facial myokymia25
HP:0001276HP:0001276Hypertonia0ADCY5 CL E G H111236ORPHA:324588Familial dyskinesia and facial myokymia25
HP:0001276HP:0001276Hypertonia0ADD3 CL E G H120245OMIM:617008Cerebral palsy, spastic quadriplegic, 33
HP:0001276HP:0001276Hypertonia0ADGRG1 CL E G H92894512ORPHA:98889Bilateral perisylvian polymicrogyria88
HP:0001276HP:0001276Hypertonia0ADGRG1 CL E G H92894512OMIM:606854Polymicrogyria, bilateral frontoparietal88
HP:0001276HP:0001276Hypertonia0ADH1C CL E G H126251OMIM:168600Parkinson disease, late-onset4
HP:0001276HP:0001276Hypertonia0ADNP CL E G H2339415766ORPHA:404448ADNP syndromeHP:0040284 - Very rare47
HP:0001276HP:0001276Hypertonia0ADSL CL E G H158291OMIM:103050Adenylosuccinase deficiency118
HP:0001276HP:0001276Hypertonia0AFF3 CL E G H38996473OMIM:619297KINSSHIP SYNDROME; KINS1
HP:0001276HP:0001276Hypertonia0AFG3L2 CL E G H10939315ORPHA:313772Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome86
HP:0001276HP:0001276Hypertonia0AFG3L2 CL E G H10939315OMIM:614487Spastic ataxia 5, autosomal recessive86
HP:0001276HP:0001276Hypertonia0AFG3L2 CL E G H10939315OMIM:610246Spinocerebellar ataxia 28.86
HP:0001276HP:0001276Hypertonia0AFG3L2 CL E G H10939315ORPHA:101109Spinocerebellar ataxia type 2886
HP:0001276HP:0001276Hypertonia0AGA CL E G H175318OMIM:208400ASPARTYLGLUCOSAMINURIA76
HP:0001276HP:0001276Hypertonia0AGTPBP1 CL E G H2328717258OMIM:618276Neurodegeneration, childhood-onset, with cerebellar atrophy1
HP:0001276HP:0001276Hypertonia0AGTPBP1 CL E G H2328717258ORPHA:2254Pontocerebellar hypoplasia type 11
HP:0001276HP:0001276Hypertonia0AIFM1 CL E G H91318768ORPHA:83629Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome60
HP:0001276HP:0001276Hypertonia0AIMP1 CL E G H925510648OMIM:260600Leukodystrophy, hypomyelinating, 34
HP:0001276HP:0001276Hypertonia0ALDH18A1 CL E G H58329722ORPHA:447753Autosomal dominant spastic paraplegia type 9A89
HP:0001276HP:0001276Hypertonia0ALDH18A1 CL E G H58329722ORPHA:447757Autosomal dominant spastic paraplegia type 9B89
HP:0001276HP:0001276Hypertonia0ALDH18A1 CL E G H58329722ORPHA:447760Autosomal recessive spastic paraplegia type 9B89
HP:0001276HP:0001276Hypertonia0ALDH18A1 CL E G H58329722OMIM:601162Spastic paraplegia 9A, autosomal dominant89
HP:0001276HP:0001276Hypertonia0ALDH18A1 CL E G H58329722OMIM:616586Spastic paraplegia 9B, autosomal recessive89
HP:0001276HP:0001276Hypertonia0ALDH3A2 CL E G H224403ORPHA:816Sjögren-Larsson syndrome87
HP:0001276HP:0001276Hypertonia0ALDH3A2 CL E G H224403OMIM:270200Sjogren-Larsson syndrome87
HP:0001276HP:0001276Hypertonia0ALG11 CL E G H44013832456ORPHA:280071ALG11-CDGHP:0040282 - Frequent41
HP:0001276HP:0001276Hypertonia0ALG11 CL E G H44013832456OMIM:613661Congenital disorder of glycosylation, type Ip41
HP:0001276HP:0001276Hypertonia0ALG3 CL E G H1019523056ORPHA:79321ALG3-CDGHP:0040283 - Occasional37
HP:0001276HP:0001276Hypertonia0ALG3 CL E G H1019523056OMIM:601110Congenital disorder of glycosylation, type Id.37
HP:0001276HP:0001276Hypertonia0ALG9 CL E G H7979615672ORPHA:79328ALG9-CDG93
HP:0001276HP:0001276Hypertonia0ALS2 CL E G H57679443OMIM:205100Amyotrophic lateral sclerosis 2, juvenile114
HP:0001276HP:0001276Hypertonia0ALS2 CL E G H57679443ORPHA:293168Infantile-onset ascending hereditary spastic paralysis114
HP:0001276HP:0001276Hypertonia0ALS2 CL E G H57679443ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040282 - Frequent114
HP:0001276HP:0001276Hypertonia0ALS2 CL E G H57679443ORPHA:247604Juvenile primary lateral sclerosis114
HP:0001276HP:0001276Hypertonia0ALS2 CL E G H57679443OMIM:606353Primary lateral sclerosis, juvenile114
HP:0001276HP:0001276Hypertonia0ALS2 CL E G H57679443OMIM:607225Spastic paralysis, infantile-onset ascending114
HP:0001276HP:0001276Hypertonia0AMACR CL E G H23600451OMIM:614307Alpha-methylacyl-CoA racemase deficiency44
HP:0001276HP:0001276Hypertonia0AMPD2 CL E G H271469ORPHA:401805Autosomal recessive spastic paraplegia type 63HP:0040282 - Frequent21
HP:0001276HP:0001276Hypertonia0AMPD2 CL E G H271469OMIM:615809Pontocerebellar hypoplasia, type 921
HP:0001276HP:0001276Hypertonia0AMPD2 CL E G H271469OMIM:615686Spastic paraplegia 63, autosomal recessive21
HP:0001276HP:0001276Hypertonia0ANG CL E G H283483ORPHA:803Amyotrophic lateral sclerosis32
HP:0001276HP:0001276Hypertonia0ANG CL E G H283483OMIM:611895Amyotrophic lateral sclerosis 932
HP:0001276HP:0001276Hypertonia0ANK3 CL E G H288494ORPHA:356996ANK3-related intellectual disability-sleep disturbance syndrome176
HP:0001276HP:0001276Hypertonia0ANK3 CL E G H288494OMIM:615493Mental retardation, autosomal recessive 37176
HP:0001276HP:0001276Hypertonia0ANKLE2 CL E G H2314129101OMIM:616681Microcephaly 16, primary, autosomal recessive3
HP:0001276HP:0001276Hypertonia0ANXA11 CL E G H311535ORPHA:803Amyotrophic lateral sclerosis
HP:0001276HP:0001276Hypertonia0AP1G1 CL E G H164555OMIM:619467USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0001276HP:0001276Hypertonia0AP1G1 CL E G H164555OMIM:619548USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR
HP:0001276HP:0001276Hypertonia0AP1S2 CL E G H8905560ORPHA:85335Fried syndrome13
HP:0001276HP:0001276Hypertonia0AP1S2 CL E G H8905560OMIM:304340Pettigrew syndrome13
HP:0001276HP:0001276Hypertonia0AP3B2 CL E G H8120567OMIM:617276EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE487
HP:0001276HP:0001276Hypertonia0AP3B2 CL E G H8120567ORPHA:442835Non-specific early-onset epileptic encephalopathy7
HP:0001276HP:0001276Hypertonia0AP4B1 CL E G H10717572ORPHA:280763Severe intellectual disability and progressive spastic paraplegia49
HP:0001276HP:0001276Hypertonia0AP4B1 CL E G H10717572OMIM:614066Spastic paraplegia 47, autosomal recessive49
HP:0001276HP:0001276Hypertonia0AP4E1 CL E G H23431573ORPHA:280763Severe intellectual disability and progressive spastic paraplegia48
HP:0001276HP:0001276Hypertonia0AP4E1 CL E G H23431573OMIM:613744Spastic paraplegia 51, autosomal recessive48
HP:0001276HP:0001276Hypertonia0AP4M1 CL E G H9179574ORPHA:280763Severe intellectual disability and progressive spastic paraplegia41
HP:0001276HP:0001276Hypertonia0AP4M1 CL E G H9179574OMIM:612936Spastic paraplegia 50, autosomal recessive41
HP:0001276HP:0001276Hypertonia0AP4S1 CL E G H11154575ORPHA:280763Severe intellectual disability and progressive spastic paraplegia18
HP:0001276HP:0001276Hypertonia0AP4S1 CL E G H11154575OMIM:614067Spastic paraplegia 52, autosomal recessive.18
HP:0001276HP:0001276Hypertonia0AP5Z1 CL E G H990722197ORPHA:306511Autosomal recessive spastic paraplegia type 48165
HP:0001276HP:0001276Hypertonia0AP5Z1 CL E G H990722197OMIM:613647Spastic paraplegia 48, autosomal recessive165
HP:0001276HP:0001276Hypertonia0APC CL E G H324583ORPHA:261584Familial adenomatous polyposis due to 5q22.2 microdeletion3179
HP:0001276HP:0001276Hypertonia0APC2 CL E G H1029724036OMIM:618677CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10; CDCBM101
HP:0001276HP:0001276Hypertonia0APOE CL E G H348613OMIM:607822Alzheimer disease 339
HP:0001276HP:0001276Hypertonia0APP CL E G H351620ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040281 - Very frequent74
HP:0001276HP:0001276Hypertonia0ARF1 CL E G H375652OMIM:618185Periventricular nodular heterotopia 8
HP:0001276HP:0001276Hypertonia0ARG1 CL E G H383663OMIM:207800Argininemia31
HP:0001276HP:0001276Hypertonia0ARG1 CL E G H383663ORPHA:90Argininemia31
HP:0001276HP:0001276Hypertonia0ARHGAP31 CL E G H5751429216ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional147
HP:0001276HP:0001276Hypertonia0ARHGEF9 CL E G H2322914561OMIM:300607Epileptic encephalopathy, early infantile, 8.45
HP:0001276HP:0001276Hypertonia0ARHGEF9 CL E G H2322914561ORPHA:163985Hyperekplexia-epilepsy syndromeHP:0040282 - Frequent45
HP:0001276HP:0001276Hypertonia0ARL13B CL E G H20089425419OMIM:612291JOUBERT SYNDROME 8; JBTS862
HP:0001276HP:0001276Hypertonia0ARL6IP1 CL E G H23204697ORPHA:401780Autosomal recessive spastic paraplegia type 611
HP:0001276HP:0001276Hypertonia0ARL6IP1 CL E G H23204697OMIM:615685Spastic paraplegia 61, autosomal recessive1
HP:0001276HP:0001276Hypertonia0ARNT2 CL E G H991516876OMIM:615926Webb-Dattani syndrome
HP:0001276HP:0001276Hypertonia0ARSA CL E G H410713OMIM:250100Metachromatic leukodystrophy253
HP:0001276HP:0001276Hypertonia0ARSA CL E G H410713ORPHA:309271Metachromatic leukodystrophy, adult form253
HP:0001276HP:0001276Hypertonia0ARSA CL E G H410713ORPHA:309263Metachromatic leukodystrophy, juvenile form253
HP:0001276HP:0001276Hypertonia0ARSA CL E G H410713ORPHA:309256Metachromatic leukodystrophy, late infantile form253
HP:0001276HP:0001276Hypertonia0ARSI CL E G H34007532521ORPHA:401815Autosomal recessive spastic paraplegia type 661
HP:0001276HP:0001276Hypertonia0ARV1 CL E G H6480129561OMIM:617020Epileptic encephalopathy, early infantile, 38.3
HP:0001276HP:0001276Hypertonia0ARV1 CL E G H6480129561ORPHA:442835Non-specific early-onset epileptic encephalopathy3
HP:0001276HP:0001276Hypertonia0ARX CL E G H17030218060ORPHA:2508Corpus callosum agenesis-abnormal genitalia syndrome166
HP:0001276HP:0001276Hypertonia0ARX CL E G H17030218060OMIM:300004Corpus callosum, agenesis of, with abnormal genitalia166
HP:0001276HP:0001276Hypertonia0ARX CL E G H17030218060OMIM:308350Developmental and epileptic encephalopathy 1.166
HP:0001276HP:0001276Hypertonia0ARX CL E G H17030218060ORPHA:1934Early infantile epileptic encephalopathy166
HP:0001276HP:0001276Hypertonia0ARX CL E G H17030218060OMIM:300215Lissencephaly, X-linked, 2166
HP:0001276HP:0001276Hypertonia0ARX CL E G H17030218060OMIM:309510Partington syndrome166
HP:0001276HP:0001276Hypertonia0ARX CL E G H17030218060ORPHA:94083Partington syndrome166
HP:0001276HP:0001276Hypertonia0ARX CL E G H17030218060ORPHA:452X-linked lissencephaly with abnormal genitalia166
HP:0001276HP:0001276Hypertonia0ARX CL E G H17030218060ORPHA:3175X-linked spasticity-intellectual disability-epilepsy syndromeHP:0040281 - Very frequent166
HP:0001276HP:0001276Hypertonia0ASAH1 CL E G H427735ORPHA:333Farber disease78
HP:0001276HP:0001276Hypertonia0ASNS CL E G H440753OMIM:615574Asparagine synthetase deficiency17
HP:0001276HP:0001276Hypertonia0ASPA CL E G H443756OMIM:271900Canavan disease48
HP:0001276HP:0001276Hypertonia0ASPA CL E G H443756ORPHA:314911Severe Canavan disease48
HP:0001276HP:0001276Hypertonia0ASXL1 CL E G H17102318318ORPHA:97297Bohring-Opitz syndrome145
HP:0001276HP:0001276Hypertonia0ASXL2 CL E G H5525223805OMIM:617190Shashi-Pena syndrome7
HP:0001276HP:0001276Hypertonia0ASXL3 CL E G H8081629357ORPHA:352577Bainbridge-Ropers syndromeHP:0040283 - Occasional49
HP:0001276HP:0001276Hypertonia0ASXL3 CL E G H8081629357OMIM:615485BAINBRIDGE-ROPERS SYNDROME; BRPS49
HP:0001276HP:0001276Hypertonia0ATAD1 CL E G H8489625903ORPHA:3197Hereditary hyperekplexiaHP:0040281 - Very frequent
HP:0001276HP:0001276Hypertonia0ATAD1 CL E G H8489625903OMIM:618011Hyperekplexia 4
HP:0001276HP:0001276Hypertonia0ATAD3A CL E G H5521025567OMIM:617183Harel-Yoon syndrome5
HP:0001276HP:0001276Hypertonia0ATAD3A CL E G H5521025567ORPHA:496790Ocular anomalies-axonal neuropathy-developmental delay syndrome5
HP:0001276HP:0001276Hypertonia0ATAD3A CL E G H5521025567OMIM:618810PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL5
HP:0001276HP:0001276Hypertonia0ATL1 CL E G H5106211231ORPHA:100984Autosomal dominant spastic paraplegia type 371
HP:0001276HP:0001276Hypertonia0ATL1 CL E G H5106211231OMIM:182600Spastic paraplegia 3, autosomal dominant71
HP:0001276HP:0001276Hypertonia0ATM CL E G H472795ORPHA:100Ataxia-telangiectasia3267
HP:0001276HP:0001276Hypertonia0ATN1 CL E G H18223033OMIM:618494Congenital hypotonia, epilepsy, developmental delay, and digital anomalies16
HP:0001276HP:0001276Hypertonia0ATP13A2 CL E G H2340030213ORPHA:314632ATP13A2-related juvenile neuronal ceroid lipofuscinosis100
HP:0001276HP:0001276Hypertonia0ATP13A2 CL E G H2340030213ORPHA:513436Autosomal recessive spastic paraplegia type 78100
HP:0001276HP:0001276Hypertonia0ATP13A2 CL E G H2340030213ORPHA:306674Kufor-Rakeb syndromeHP:0040283 - Occasional100
HP:0001276HP:0001276Hypertonia0ATP13A2 CL E G H2340030213OMIM:606693Kufor-Rakeb syndrome100
HP:0001276HP:0001276Hypertonia0ATP13A2 CL E G H2340030213OMIM:617225SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78100
HP:0001276HP:0001276Hypertonia0ATP1A2 CL E G H477800ORPHA:2131Alternating hemiplegia of childhood239
HP:0001276HP:0001276Hypertonia0ATP1A2 CL E G H477800ORPHA:442835Non-specific early-onset epileptic encephalopathy239
HP:0001276HP:0001276Hypertonia0ATP1A3 CL E G H478801ORPHA:2131Alternating hemiplegia of childhood150
HP:0001276HP:0001276Hypertonia0ATP1A3 CL E G H478801ORPHA:442835Non-specific early-onset epileptic encephalopathy150
HP:0001276HP:0001276Hypertonia0ATP2B3 CL E G H492816ORPHA:314978X-linked non progressive cerebellar ataxia19
HP:0001276HP:0001276Hypertonia0ATP5MC3 CL E G H518843OMIM:619681DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA; DYTSPG
HP:0001276HP:0001276Hypertonia0ATP6 CL E G H45087414ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040283 - Occasional
HP:0001276HP:0001276Hypertonia0ATP6 CL E G H45087414ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0001276HP:0001276Hypertonia0ATP6 CL E G H45087414ORPHA:320360MT-ATP6-related mitochondrial spastic paraplegia
HP:0001276HP:0001276Hypertonia0ATP6AP2 CL E G H1015918305OMIM:300423MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH36
HP:0001276HP:0001276Hypertonia0ATP6AP2 CL E G H1015918305OMIM:300911Parkinsonism with spasticity, X-linked36
HP:0001276HP:0001276Hypertonia0ATP6AP2 CL E G H1015918305ORPHA:93952X-linked intellectual disability, Hedera type36
HP:0001276HP:0001276Hypertonia0ATP6AP2 CL E G H1015918305ORPHA:363654X-linked parkinsonism-spasticity syndrome36
HP:0001276HP:0001276Hypertonia0ATP6V0A1 CL E G H535865OMIM:6199711
HP:0001276HP:0001276Hypertonia0ATP6V0A2 CL E G H2354518481ORPHA:357074Autosomal recessive cutis laxa type 2, classic type140
HP:0001276HP:0001276Hypertonia0ATP6V1A CL E G H523851ORPHA:357074Autosomal recessive cutis laxa type 2, classic type3
HP:0001276HP:0001276Hypertonia0ATP6V1A CL E G H523851OMIM:618012Epileptic encephalopathy, infantile or early childhood, 33
HP:0001276HP:0001276Hypertonia0ATP6V1A CL E G H523851ORPHA:442835Non-specific early-onset epileptic encephalopathy3
HP:0001276HP:0001276Hypertonia0ATP6V1E1 CL E G H529857ORPHA:357074Autosomal recessive cutis laxa type 2, classic type2
HP:0001276HP:0001276Hypertonia0ATP7A CL E G H538869ORPHA:565Menkes diseaseHP:0040281 - Very frequent192
HP:0001276HP:0001276Hypertonia0ATP7A CL E G H538869OMIM:309400Menkes disease.192
HP:0001276HP:0001276Hypertonia0ATP7B CL E G H540870OMIM:277900Wilson disease315
HP:0001276HP:0001276Hypertonia0ATPAF2 CL E G H9164718802OMIM:604273Mitochondrial complex V (atp synthase) deficiency, nuclear type 132
HP:0001276HP:0001276Hypertonia0ATRX CL E G H546886ORPHA:847Alpha-thalassemia-X-linked intellectual disability syndrome169
HP:0001276HP:0001276Hypertonia0ATRX CL E G H546886OMIM:301040Alpha-Thalassemia/mental retardation syndrome, X-linked169
HP:0001276HP:0001276Hypertonia0ATRX CL E G H546886OMIM:309580Mental retardation-hypotonic facies syndrome, X-linked, 1169
HP:0001276HP:0001276Hypertonia0ATXN1 CL E G H631010548OMIM:164400Spinocerebellar ataxia 119
HP:0001276HP:0001276Hypertonia0ATXN10 CL E G H2581410549ORPHA:98761Spinocerebellar ataxia type 109
HP:0001276HP:0001276Hypertonia0ATXN2 CL E G H631110555ORPHA:803Amyotrophic lateral sclerosis11
HP:0001276HP:0001276Hypertonia0ATXN2 CL E G H631110555OMIM:168600Parkinson disease, late-onset11
HP:0001276HP:0001276Hypertonia0ATXN2 CL E G H631110555OMIM:183090Spinocerebellar ataxia 211
HP:0001276HP:0001276Hypertonia0ATXN3 CL E G H42877106OMIM:109150Machado-Joseph disease14
HP:0001276HP:0001276Hypertonia0ATXN3 CL E G H42877106ORPHA:276238Machado-Joseph disease type 114
HP:0001276HP:0001276Hypertonia0ATXN3 CL E G H42877106ORPHA:276241Machado-Joseph disease type 214
HP:0001276HP:0001276Hypertonia0ATXN3 CL E G H42877106ORPHA:276244Machado-Joseph disease type 314
HP:0001276HP:0001276Hypertonia0ATXN7 CL E G H631410560OMIM:164500Spinocerebellar ataxia 7 opca III opca with retinal degeneration opca with macular degeneration and external ophthalmoplegia autosomal dominant cerebellar ataxia, type II adca, type II8
HP:0001276HP:0001276Hypertonia0ATXN8 CL E G H72406632925OMIM:608768Spinocerebellar ataxia 81
HP:0001276HP:0001276Hypertonia0ATXN8 CL E G H72406632925ORPHA:98760Spinocerebellar ataxia type 81
HP:0001276HP:0001276Hypertonia0ATXN8OS CL E G H631510561OMIM:168600Parkinson disease, late-onset1
HP:0001276HP:0001276Hypertonia0ATXN8OS CL E G H631510561OMIM:608768Spinocerebellar ataxia 81
HP:0001276HP:0001276Hypertonia0ATXN8OS CL E G H631510561ORPHA:98760Spinocerebellar ataxia type 81
HP:0001276HP:0001276Hypertonia0AUH CL E G H549890ORPHA:670463-methylglutaconic aciduria type 149
HP:0001276HP:0001276Hypertonia0AUH CL E G H549890OMIM:2509503-methylglutaconic aciduria, type I49
HP:0001276HP:0001276Hypertonia0AUTS2 CL E G H2605314262ORPHA:352490Autism spectrum disorder due to AUTS2 deficiencyHP:0040283 - Occasional61
HP:0001276HP:0001276Hypertonia0AUTS2 CL E G H2605314262OMIM:615834Mental retardation, autosomal dominant 26HP:0040283 - Occasional61
HP:0001276HP:0001276Hypertonia0B3GALNT2 CL E G H14878928596ORPHA:588Muscle-eye-brain diseaseHP:0040282 - Frequent43
HP:0001276HP:0001276Hypertonia0B4GALNT1 CL E G H25834117ORPHA:101006Autosomal recessive spastic paraplegia type 2625
HP:0001276HP:0001276Hypertonia0B4GALNT1 CL E G H25834117OMIM:609195Spastic paraplegia 26, autosomal recessive25
HP:0001276HP:0001276Hypertonia0B4GAT1 CL E G H1104115685OMIM:615287MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1317
HP:0001276HP:0001276Hypertonia0BAZ1B CL E G H9031961ORPHA:904Williams syndrome
HP:0001276HP:0001276Hypertonia0BCAS3 CL E G H5482814347OMIM:619641HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS2
HP:0001276HP:0001276Hypertonia0BCKDHA CL E G H593986OMIM:248600Maple syrup urine disease.120
HP:0001276HP:0001276Hypertonia0BCKDHB CL E G H594987OMIM:248600Maple syrup urine disease.162
HP:0001276HP:0001276Hypertonia0BCL11B CL E G H6491913222OMIM:617237Immunodeficiency 493
HP:0001276HP:0001276Hypertonia0BCL11B CL E G H6491913222OMIM:618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES3
HP:0001276HP:0001276Hypertonia0BCL7B CL E G H92751005ORPHA:904Williams syndrome
HP:0001276HP:0001276Hypertonia0BCOR CL E G H5488020893OMIM:309800Microphthalmia, syndromic 1101
HP:0001276HP:0001276Hypertonia0BCOR CL E G H5488020893OMIM:300166Microphthalmia, syndromic 2101
HP:0001276HP:0001276Hypertonia0BCS1L CL E G H6171020OMIM:124000Mitochondrial complex III deficiency, nuclear type 172
HP:0001276HP:0001276Hypertonia0BEAN1 CL E G H14622724160ORPHA:217012Spinocerebellar ataxia type 311
HP:0001276HP:0001276Hypertonia0BICD2 CL E G H2329917208OMIM:615290Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant46
HP:0001276HP:0001276Hypertonia0BMPR1A CL E G H6571076ORPHA:440437Familial colorectal cancer Type XHP:0040282 - Frequent385
HP:0001276HP:0001276Hypertonia0BOLA3 CL E G H38896224415OMIM:614299Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia14
HP:0001276HP:0001276Hypertonia0BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1.276
HP:0001276HP:0001276Hypertonia0BRAT1 CL E G H22192721701OMIM:618056Neurodevelopmental disorder with cerebellar atrophy and with or without seizures.20
HP:0001276HP:0001276Hypertonia0BRAT1 CL E G H22192721701OMIM:614498Rigidity and multifocal seizure syndrome, lethal neonatal.20
HP:0001276HP:0001276Hypertonia0BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent
HP:0001276HP:0001276Hypertonia0BRF1 CL E G H297211551ORPHA:444072Cerebellar-facial-dental syndrome7
HP:0001276HP:0001276Hypertonia0BSCL2 CL E G H2658015832ORPHA:100998Autosomal dominant spastic paraplegia type 17105
HP:0001276HP:0001276Hypertonia0BSCL2 CL E G H2658015832OMIM:615924Encephalopathy, progressive, with or without lipodystrophy105
HP:0001276HP:0001276Hypertonia0BSCL2 CL E G H2658015832ORPHA:363400Severe neurodegenerative syndrome with lipodystrophy105
HP:0001276HP:0001276Hypertonia0BSCL2 CL E G H2658015832OMIM:270685Spastic paraplegia 17105
HP:0001276HP:0001276Hypertonia0BTD CL E G H6861122ORPHA:79241Biotinidase deficiency223
HP:0001276HP:0001276Hypertonia0BUD23 CL E G H11404916405ORPHA:904Williams syndrome
HP:0001276HP:0001276Hypertonia0C19ORF12 CL E G H8363625443ORPHA:320370Autosomal recessive spastic paraplegia type 43114
HP:0001276HP:0001276Hypertonia0C19ORF12 CL E G H8363625443ORPHA:289560Mitochondrial membrane protein-associated neurodegeneration114
HP:0001276HP:0001276Hypertonia0C19ORF12 CL E G H8363625443OMIM:614298Neurodegeneration with brain iron accumulation 4114
HP:0001276HP:0001276Hypertonia0C19ORF12 CL E G H8363625443OMIM:615043Spastic paraplegia 43, autosomal recessive114
HP:0001276HP:0001276Hypertonia0C2ORF69 CL E G H20532726799OMIM:619423COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53
HP:0001276HP:0001276Hypertonia0C9ORF72 CL E G H20322828337ORPHA:803Amyotrophic lateral sclerosis56
HP:0001276HP:0001276Hypertonia0C9ORF72 CL E G H20322828337ORPHA:401901Huntington disease-like syndrome due to C9ORF72 expansions56
HP:0001276HP:0001276Hypertonia0CACNA1A CL E G H7731388ORPHA:2131Alternating hemiplegia of childhood449
HP:0001276HP:0001276Hypertonia0CACNA1A CL E G H7731388OMIM:617106Epileptic encephalopathy, early infantile, 42.449
HP:0001276HP:0001276Hypertonia0CACNA1A CL E G H7731388ORPHA:442835Non-specific early-onset epileptic encephalopathy449
HP:0001276HP:0001276Hypertonia0CACNA1B CL E G H7741389ORPHA:442835Non-specific early-onset epileptic encephalopathy5
HP:0001276HP:0001276Hypertonia0CACNA1C CL E G H7751390OMIM:620029572
HP:0001276HP:0001276Hypertonia0CACNA1D CL E G H7761391OMIM:615474Primary aldosteronism, seizures, and neurologic abnormalities51
HP:0001276HP:0001276Hypertonia0CACNA1D CL E G H7761391ORPHA:369929Primary hyperaldosteronism-seizures-neurological abnormalities syndrome51
HP:0001276HP:0001276Hypertonia0CACNA1E CL E G H7771392OMIM:618285Developmental and epileptic encephalopathy 6911
HP:0001276HP:0001276Hypertonia0CACNA1G CL E G H89131394OMIM:616795Spinocerebellar ataxia 4232
HP:0001276HP:0001276Hypertonia0CACNA1G CL E G H89131394OMIM:618087Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits32
HP:0001276HP:0001276Hypertonia0CACNA1G CL E G H89131394ORPHA:458803Spinocerebellar ataxia type 4232
HP:0001276HP:0001276Hypertonia0CACNA2D1 CL E G H7811399ORPHA:442835Non-specific early-onset epileptic encephalopathy59
HP:0001276HP:0001276Hypertonia0CAMK2A CL E G H8151460OMIM:618095Mental retardation, autosomal recessive 631
HP:0001276HP:0001276Hypertonia0CAMK2B CL E G H8161461OMIM:617799Mental retardation, autosomal dominant 54
HP:0001276HP:0001276Hypertonia0CAPN1 CL E G H8231476ORPHA:488594Autosomal recessive spastic paraplegia type 764
HP:0001276HP:0001276Hypertonia0CAPN1 CL E G H8231476OMIM:616907SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG764
HP:0001276HP:0001276Hypertonia0CARS1 CL E G H8331493ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0001276HP:0001276Hypertonia0CARS2 CL E G H7958725695OMIM:616672Combined oxidative phosphorylation deficiency 2735
HP:0001276HP:0001276Hypertonia0CASK CL E G H85731497ORPHA:1934Early infantile epileptic encephalopathy118
HP:0001276HP:0001276Hypertonia0CASK CL E G H85731497OMIM:300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia.118
HP:0001276HP:0001276Hypertonia0CASK CL E G H85731497ORPHA:163937X-linked intellectual disability, Najm type118
HP:0001276HP:0001276Hypertonia0CCDC88C CL E G H44019319967OMIM:616053Spinocerebellar ataxia 4054
HP:0001276HP:0001276Hypertonia0CCDC88C CL E G H44019319967ORPHA:423275Spinocerebellar ataxia type 4054
HP:0001276HP:0001276Hypertonia0CCNF CL E G H8991591ORPHA:803Amyotrophic lateral sclerosis
HP:0001276HP:0001276Hypertonia0CCT5 CL E G H229481618ORPHA:139578Mutilating hereditary sensory neuropathy with spastic paraplegia56
HP:0001276HP:0001276Hypertonia0CCT5 CL E G H229481618OMIM:256840Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive56
HP:0001276HP:0001276Hypertonia0CDC40 CL E G H5136217350OMIM:619302PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0001276HP:0001276Hypertonia0CDC42BPB CL E G H95781738OMIM:619841
HP:0001276HP:0001276Hypertonia0CDK19 CL E G H2309719338OMIM:618916DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87
HP:0001276HP:0001276Hypertonia0CDK19 CL E G H2309719338ORPHA:442835Non-specific early-onset epileptic encephalopathy
HP:0001276HP:0001276Hypertonia0CDKL5 CL E G H679211411ORPHA:3095Atypical Rett syndrome405
HP:0001276HP:0001276Hypertonia0CDKL5 CL E G H679211411ORPHA:1934Early infantile epileptic encephalopathy405
HP:0001276HP:0001276Hypertonia0CDON CL E G H5093717104ORPHA:93925Alobar holoprosencephaly200
HP:0001276HP:0001276Hypertonia0CDON CL E G H5093717104ORPHA:93924Lobar holoprosencephaly200
HP:0001276HP:0001276Hypertonia0CDON CL E G H5093717104ORPHA:93926Midline interhemispheric variant of holoprosencephaly200
HP:0001276HP:0001276Hypertonia0CDON CL E G H5093717104ORPHA:220386Semilobar holoprosencephaly200
HP:0001276HP:0001276Hypertonia0CELF2 CL E G H106592550ORPHA:442835Non-specific early-onset epileptic encephalopathy
HP:0001276HP:0001276Hypertonia0CEP85L CL E G H38711921638ORPHA:572013Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome1
HP:0001276HP:0001276Hypertonia0CFAP410 CL E G H7551260ORPHA:803Amyotrophic lateral sclerosis
HP:0001276HP:0001276Hypertonia0CHCHD10 CL E G H40091615559ORPHA:803Amyotrophic lateral sclerosis11
HP:0001276HP:0001276Hypertonia0CHKA CL E G H11191937OMIM:620023
HP:0001276HP:0001276Hypertonia0CHMP1A CL E G H51198740OMIM:614961Pontocerebellar hypoplasia, type 819
HP:0001276HP:0001276Hypertonia0CHMP2B CL E G H2597824537ORPHA:803Amyotrophic lateral sclerosis42
HP:0001276HP:0001276Hypertonia0CHMP2B CL E G H2597824537OMIM:600795Frontotemporal dementia and/or amytrophic lateral sclerosis 742
HP:0001276HP:0001276Hypertonia0CHP1 CL E G H1126117433OMIM:618438Spastic ataxia 9, autosomal recessive
HP:0001276HP:0001276Hypertonia0CIT CL E G H111131985OMIM:617090Microcephaly 17, primary, autosomal recessive15
HP:0001276HP:0001276Hypertonia0CKAP2L CL E G H15046826877ORPHA:3255Filippi syndrome7
HP:0001276HP:0001276Hypertonia0CLCF1 CL E G H2352917412ORPHA:1545Crisponi syndromeHP:0040281 - Very frequent6
HP:0001276HP:0001276Hypertonia0CLCN3 CL E G H11822021OMIM:619517NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA2
HP:0001276HP:0001276Hypertonia0CLCN4 CL E G H11832022ORPHA:485350CLCN4-related X-linked intellectual disability syndrome45
HP:0001276HP:0001276Hypertonia0CLCN4 CL E G H11832022OMIM:300114Raynaud-Claes syndrome45
HP:0001276HP:0001276Hypertonia0CLDN11 CL E G H50108514OMIM:619328Leukodystrophy, hypomyelinating, 22
HP:0001276HP:0001276Hypertonia0CLIC2 CL E G H11932063OMIM:300886MENTAL RETARDATION, X-LINKED, SYNDROMIC 32; MRXS324
HP:0001276HP:0001276Hypertonia0CLIC2 CL E G H11932063ORPHA:324410X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome4
HP:0001276HP:0001276Hypertonia0CLIP2 CL E G H74612586ORPHA:904Williams syndrome
HP:0001276HP:0001276Hypertonia0CLN3 CL E G H12012074ORPHA:228346CLN3 disease216
HP:0001276HP:0001276Hypertonia0CLN5 CL E G H12032076ORPHA:228360CLN5 disease141
HP:0001276HP:0001276Hypertonia0CLN8 CL E G H20552079ORPHA:1947Progressive epilepsy-intellectual disability syndrome, Finnish type111
HP:0001276HP:0001276Hypertonia0CLP1 CL E G H1097816999ORPHA:411493Pontocerebellar hypoplasia type 10HP:0040282 - Frequent7
HP:0001276HP:0001276Hypertonia0CLP1 CL E G H1097816999OMIM:615803Pontocerebellar hypoplasia, type 10.7
HP:0001276HP:0001276Hypertonia0CLPB CL E G H8157030664ORPHA:4450383-methylglutaconic aciduria type 7HP:0040283 - Occasional38
HP:0001276HP:0001276Hypertonia0CLPB CL E G H8157030664OMIM:6162713-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia38
HP:0001276HP:0001276Hypertonia0CLTC CL E G H12132092OMIM:617854Mental retardation, autosomal dominant 561
HP:0001276HP:0001276Hypertonia0CLTC CL E G H12132092ORPHA:442835Non-specific early-onset epileptic encephalopathy1
HP:0001276HP:0001276Hypertonia0CNKSR2 CL E G H2286619701ORPHA:442835Non-specific early-onset epileptic encephalopathy18
HP:0001276HP:0001276Hypertonia0CNOT1 CL E G H230197877OMIM:618500Holoprosencephaly 12 with or without pancreatic agenesis2
HP:0001276HP:0001276Hypertonia0CNP CL E G H12672158OMIM:619071LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20
HP:0001276HP:0001276Hypertonia0CNPY3 CL E G H1069511968OMIM:617929Epileptic encephalopathy, early infantile, 60
HP:0001276HP:0001276Hypertonia0CNTNAP1 CL E G H85068011OMIM:618186Neuropathy, congenital hypomyelinating, 39
HP:0001276HP:0001276Hypertonia0CNTNAP2 CL E G H2604713830ORPHA:163681CNTNAP2-related developmental and epileptic encephalopathy518
HP:0001276HP:0001276Hypertonia0CNTNAP2 CL E G H2604713830OMIM:610042Pitt-Hopkins-Like syndrome 1518
HP:0001276HP:0001276Hypertonia0COA8 CL E G H8433420492OMIM:619061MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17; MC4DN17
HP:0001276HP:0001276Hypertonia0COA8 CL E G H8433420492ORPHA:436271Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
HP:0001276HP:0001276Hypertonia0COASY CL E G H8034729932ORPHA:397725COASY protein-associated neurodegeneration16
HP:0001276HP:0001276Hypertonia0COASY CL E G H8034729932OMIM:615643Neurodegeneration with brain iron accumulation 616
HP:0001276HP:0001276Hypertonia0COG2 CL E G H227966546ORPHA:435934COG2-CDG2
HP:0001276HP:0001276Hypertonia0COG2 CL E G H227966546OMIM:617395Congenital disorder of glycosylation, type IIq2
HP:0001276HP:0001276Hypertonia0COG4 CL E G H2583918620ORPHA:263501COG4-CDG67
HP:0001276HP:0001276Hypertonia0COG4 CL E G H2583918620OMIM:613489Congenital disorder of glycosylation, type IIj.67
HP:0001276HP:0001276Hypertonia0COL4A1 CL E G H12822202OMIM:175780Brain small vessel disease 1 with or without ocular anomalies193
HP:0001276HP:0001276Hypertonia0COL4A2 CL E G H12842203OMIM:614483PORENCEPHALY 2; POREN2147
HP:0001276HP:0001276Hypertonia0COLGALT1 CL E G H7970926182OMIM:618360Brain small vessel disease 3
HP:0001276HP:0001276Hypertonia0COPB1 CL E G H13152231OMIM:619255BARALLE-MACKEN SYNDROME; BARMACS
HP:0001276HP:0001276Hypertonia0COPB2 CL E G H92762232OMIM:619884
HP:0001276HP:0001276Hypertonia0COPB2 CL E G H92762232OMIM:617800Microcephaly 19, primary, autosomal recessive
HP:0001276HP:0001276Hypertonia0COQ2 CL E G H2723525223OMIM:146500Multiple system atrophy 1, susceptibility to54
HP:0001276HP:0001276Hypertonia0COQ2 CL E G H2723525223ORPHA:227510Multiple system atrophy, cerebellar type54
HP:0001276HP:0001276Hypertonia0COQ2 CL E G H2723525223ORPHA:98933Multiple system atrophy, parkinsonian type54
HP:0001276HP:0001276Hypertonia0COQ5 CL E G H8427428722OMIM:619028COENZYME Q10 DEFICIENCY, PRIMARY, 9; COQ10D9
HP:0001276HP:0001276Hypertonia0COQ9 CL E G H5701725302OMIM:614654Coenzyme Q10 deficiency, primary, 5.44
HP:0001276HP:0001276Hypertonia0COX15 CL E G H13552263ORPHA:255241Leigh syndrome with leukodystrophy104
HP:0001276HP:0001276Hypertonia0COX8A CL E G H13512294OMIM:619059MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN151
HP:0001276HP:0001276Hypertonia0CP CL E G H13562295ORPHA:48818Aceruloplasminemia115
HP:0001276HP:0001276Hypertonia0CP CL E G H13562295OMIM:604290ACERULOPLASMINEMIA115
HP:0001276HP:0001276Hypertonia0CPSF3 CL E G H516922326OMIM:619876
HP:0001276HP:0001276Hypertonia0CPT1C CL E G H12612918540ORPHA:444099Autosomal dominant spastic paraplegia type 731
HP:0001276HP:0001276Hypertonia0CPT1C CL E G H12612918540OMIM:616282Spastic paraplegia 73, autosomal dominant1
HP:0001276HP:0001276Hypertonia0CRLF1 CL E G H92442364ORPHA:1545Crisponi syndromeHP:0040281 - Very frequent24
HP:0001276HP:0001276Hypertonia0CRLF1 CL E G H92442364OMIM:272430Crisponi/cold-induced sweating syndrome 124
HP:0001276HP:0001276Hypertonia0CRYAB CL E G H14102389OMIM:613869Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related46
HP:0001276HP:0001276Hypertonia0CSF1R CL E G H14362433OMIM:618476Brain abnormalities, neurodegeneration, and dysosteosclerosis149
HP:0001276HP:0001276Hypertonia0CSF1R CL E G H14362433OMIM:221820Leukoencephalopathy, diffuse hereditary, with spheroids149
HP:0001276HP:0001276Hypertonia0CTC1 CL E G H8016926169OMIM:612199Cerebroretinal microangiopathy with calcifications and cysts160
HP:0001276HP:0001276Hypertonia0CTNNA2 CL E G H14962510OMIM:618174Cortical dysplasia, complex, with other brain malformations 92
HP:0001276HP:0001276Hypertonia0CTNNB1 CL E G H14992514OMIM:615075Neurodevelopmental disorder with spastic diplegia and visual defects88
HP:0001276HP:0001276Hypertonia0CTNNB1 CL E G H14992514ORPHA:404473Severe intellectual disability-progressive spastic diplegia syndrome88
HP:0001276HP:0001276Hypertonia0CTSD CL E G H15092529OMIM:610127Ceroid lipofuscinosis, neuronal, 10159
HP:0001276HP:0001276Hypertonia0CYB5A CL E G H15282570ORPHA:621Hereditary methemoglobinemiaHP:0040284 - Very rare2
HP:0001276HP:0001276Hypertonia0CYB5R3 CL E G H17272873ORPHA:621Hereditary methemoglobinemiaHP:0040284 - Very rare24
HP:0001276HP:0001276Hypertonia0CYB5R3 CL E G H17272873OMIM:250800Methemoglobinemia due to deficiency of methemoglobin reductase.24
HP:0001276HP:0001276Hypertonia0CYFIP2 CL E G H2699913760OMIM:618008EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65; EIEE651
HP:0001276HP:0001276Hypertonia0CYFIP2 CL E G H2699913760ORPHA:442835Non-specific early-onset epileptic encephalopathy1
HP:0001276HP:0001276Hypertonia0CYP27A1 CL E G H15932605ORPHA:909Cerebrotendinous xanthomatosis114
HP:0001276HP:0001276Hypertonia0CYP27A1 CL E G H15932605OMIM:213700Cerebrotendinous xanthomatosis114
HP:0001276HP:0001276Hypertonia0CYP2U1 CL E G H11361220582ORPHA:320411Autosomal recessive spastic paraplegia type 5618
HP:0001276HP:0001276Hypertonia0CYP2U1 CL E G H11361220582OMIM:615030Spastic paraplegia 56, autosomal recessive18
HP:0001276HP:0001276Hypertonia0CYP7B1 CL E G H94202652ORPHA:100986Autosomal recessive spastic paraplegia type 5A57
HP:0001276HP:0001276Hypertonia0CYP7B1 CL E G H94202652OMIM:270800Spastic paraplegia 5A, autosomal recessive57
HP:0001276HP:0001276Hypertonia0DAB1 CL E G H16002661ORPHA:363710Spinocerebellar ataxia type 374
HP:0001276HP:0001276Hypertonia0DALRD3 CL E G H5515225536ORPHA:442835Non-specific early-onset epileptic encephalopathy
HP:0001276HP:0001276Hypertonia0DAO CL E G H16102671ORPHA:803Amyotrophic lateral sclerosis
HP:0001276HP:0001276Hypertonia0DARS1 CL E G H16152678OMIM:615281HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0001276HP:0001276Hypertonia0DARS2 CL E G H5515725538ORPHA:137898Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndromeHP:0040284 - Very rare60
HP:0001276HP:0001276Hypertonia0DARS2 CL E G H5515725538OMIM:611105Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation60
HP:0001276HP:0001276Hypertonia0DBT CL E G H16292698OMIM:248600Maple syrup urine disease.156
HP:0001276HP:0001276Hypertonia0DCTN1 CL E G H16392711ORPHA:803Amyotrophic lateral sclerosis86
HP:0001276HP:0001276Hypertonia0DCTN1 CL E G H16392711OMIM:105400Amyotrophic lateral sclerosis 186
HP:0001276HP:0001276Hypertonia0DCTN1 CL E G H16392711OMIM:168605Perry syndrome86
HP:0001276HP:0001276Hypertonia0DCX CL E G H16412714OMIM:300067Lissencephaly, X-linked, 1145
HP:0001276HP:0001276Hypertonia0DDB2 CL E G H16432718ORPHA:910Xeroderma pigmentosum30
HP:0001276HP:0001276Hypertonia0DDC CL E G H16442719OMIM:608643Aromatic L-amino acid decarboxylase deficiency43
HP:0001276HP:0001276Hypertonia0DDHD1 CL E G H8082119714ORPHA:101008Autosomal recessive spastic paraplegia type 2835
HP:0001276HP:0001276Hypertonia0DDHD1 CL E G H8082119714OMIM:609340Spastic paraplegia 28, autosomal recessive35
HP:0001276HP:0001276Hypertonia0DDHD2 CL E G H2325929106ORPHA:320380Autosomal recessive spastic paraplegia type 5429
HP:0001276HP:0001276Hypertonia0DDHD2 CL E G H2325929106OMIM:615033Spastic paraplegia 54, autosomal recessive29
HP:0001276HP:0001276Hypertonia0DDX3X CL E G H16542745OMIM:300958MENTAL RETARDATION, X-LINKED 102; MRX10257
HP:0001276HP:0001276Hypertonia0DDX3X CL E G H16542745ORPHA:457260X-linked intellectual disability-hypotonia-movement disorder syndrome57
HP:0001276HP:0001276Hypertonia0DEGS1 CL E G H856013709OMIM:618404Leukodystrophy, hypomyelinating, 18
HP:0001276HP:0001276Hypertonia0DENND5A CL E G H2325819344OMIM:617281Epileptic encephalopathy, early infantile, 496
HP:0001276HP:0001276Hypertonia0DHCR24 CL E G H17182859OMIM:602398DESMOSTEROLOSIS72
HP:0001276HP:0001276Hypertonia0DHCR24 CL E G H17182859ORPHA:35107DesmosterolosisHP:0040281 - Very frequent72
HP:0001276HP:0001276Hypertonia0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0001276HP:0001276Hypertonia0DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndromeHP:0040283 - Occasional159
HP:0001276HP:0001276Hypertonia0DHDDS CL E G H7994720603OMIM:617836Developmental delay and seizures with or without movement abnormalities47
HP:0001276HP:0001276Hypertonia0DHDDS CL E G H7994720603ORPHA:442835Non-specific early-onset epileptic encephalopathy47
HP:0001276HP:0001276Hypertonia0DHDDS CL E G H7994720603OMIM:613861Retinitis pigmentosa 5947
HP:0001276HP:0001276Hypertonia0DHPS CL E G H17252869OMIM:618480Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0001276HP:0001276Hypertonia0DISP1 CL E G H8497619711ORPHA:93925Alobar holoprosencephaly22
HP:0001276HP:0001276Hypertonia0DISP1 CL E G H8497619711ORPHA:93924Lobar holoprosencephaly22
HP:0001276HP:0001276Hypertonia0DISP1 CL E G H8497619711ORPHA:93926Midline interhemispheric variant of holoprosencephaly22
HP:0001276HP:0001276Hypertonia0DISP1 CL E G H8497619711ORPHA:220386Semilobar holoprosencephaly22
HP:0001276HP:0001276Hypertonia0DKC1 CL E G H17362890ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040282 - Frequent65
HP:0001276HP:0001276Hypertonia0DLAT CL E G H17372896ORPHA:79244Pyruvate dehydrogenase E2 deficiencyHP:0040282 - Frequent82
HP:0001276HP:0001276Hypertonia0DLD CL E G H17382898ORPHA:2394Pyruvate dehydrogenase E3 deficiency89
HP:0001276HP:0001276Hypertonia0DLL1 CL E G H285142908ORPHA:93925Alobar holoprosencephaly3
HP:0001276HP:0001276Hypertonia0DLL1 CL E G H285142908ORPHA:93924Lobar holoprosencephaly3
HP:0001276HP:0001276Hypertonia0DLL1 CL E G H285142908ORPHA:93926Midline interhemispheric variant of holoprosencephaly3
HP:0001276HP:0001276Hypertonia0DLL1 CL E G H285142908ORPHA:220386Semilobar holoprosencephaly3
HP:0001276HP:0001276Hypertonia0DLL4 CL E G H545672910ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional9
HP:0001276HP:0001276Hypertonia0DMXL2 CL E G H233122938ORPHA:1934Early infantile epileptic encephalopathy3
HP:0001276HP:0001276Hypertonia0DNAJC12 CL E G H5652128908OMIM:617384Hyperphenylalaninemia, MILD, non-bh4-deficient.3
HP:0001276HP:0001276Hypertonia0DNAJC13 CL E G H2331730343ORPHA:411602Hereditary late-onset Parkinson disease2
HP:0001276HP:0001276Hypertonia0DNAJC19 CL E G H13111830528ORPHA:66634Dilated cardiomyopathy with ataxia25
HP:0001276HP:0001276Hypertonia0DNAJC30 CL E G H8427716410ORPHA:904Williams syndrome
HP:0001276HP:0001276Hypertonia0DNAJC6 CL E G H982915469ORPHA:391411Atypical juvenile parkinsonism6
HP:0001276HP:0001276Hypertonia0DNAJC6 CL E G H982915469OMIM:615528Parkinson disease 19a, juvenile-onset6
HP:0001276HP:0001276Hypertonia0DNAJC6 CL E G H982915469ORPHA:2828Young-onset Parkinson disease6
HP:0001276HP:0001276Hypertonia0DNM1 CL E G H17592972ORPHA:442835Non-specific early-onset epileptic encephalopathy72
HP:0001276HP:0001276Hypertonia0DNM1L CL E G H100592973ORPHA:98673Autosomal dominant optic atrophy, classic form94
HP:0001276HP:0001276Hypertonia0DNMT1 CL E G H17862976ORPHA:314404Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome145
HP:0001276HP:0001276Hypertonia0DNMT1 CL E G H17862976OMIM:604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant145
HP:0001276HP:0001276Hypertonia0DOCK6 CL E G H5757219189ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional18
HP:0001276HP:0001276Hypertonia0DPAGT1 CL E G H17982995OMIM:608093Congenital disorder of glycosylation, type Ij.38
HP:0001276HP:0001276Hypertonia0DPAGT1 CL E G H17982995ORPHA:86309DPAGT1-CDGHP:0040283 - Occasional38
HP:0001276HP:0001276Hypertonia0DPH5 CL E G H5161124270OMIM:620070
HP:0001276HP:0001276Hypertonia0DPM1 CL E G H88133005ORPHA:79322DPM1-CDG27
HP:0001276HP:0001276Hypertonia0DPYD CL E G H18063012OMIM:274270Dihydropyrimidine dehydrogenase deficiency.144
HP:0001276HP:0001276Hypertonia0DPYD CL E G H18063012ORPHA:1675Dihydropyrimidine dehydrogenase deficiencyHP:0040283 - Occasional144
HP:0001276HP:0001276Hypertonia0DSTYK CL E G H2577829043ORPHA:101003Autosomal recessive spastic paraplegia type 2313
HP:0001276HP:0001276Hypertonia0DSTYK CL E G H2577829043OMIM:270750Spastic paraplegia 2313
HP:0001276HP:0001276Hypertonia0DTYMK CL E G H18413061OMIM:619847
HP:0001276HP:0001276Hypertonia0DYM CL E G H5480821317ORPHA:239Dyggve-Melchior-Clausen disease65
HP:0001276HP:0001276Hypertonia0DYNC1H1 CL E G H17782961OMIM:614563Mental retardation, autosomal dominant 13427
HP:0001276HP:0001276Hypertonia0DYNC1I2 CL E G H17812964OMIM:618492Neurodevelopmental disorder with microcephaly and structural brain anomalies1
HP:0001276HP:0001276Hypertonia0DYRK1A CL E G H18593091ORPHA:268261DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletionHP:0040283 - Occasional134
HP:0001276HP:0001276Hypertonia0EARS2 CL E G H12445429419OMIM:614924Combined oxidative phosphorylation deficiency 1280
HP:0001276HP:0001276Hypertonia0EBP CL E G H106823133ORPHA:401973MEND syndrome51
HP:0001276HP:0001276Hypertonia0EBP CL E G H106823133OMIM:300960Mend syndrome.51
HP:0001276HP:0001276Hypertonia0ECHS1 CL E G H18923151ORPHA:255241Leigh syndrome with leukodystrophy33
HP:0001276HP:0001276Hypertonia0ECHS1 CL E G H18923151OMIM:616277Mitochondrial short-chain enoyl-coa hydratase 1 deficiency33
HP:0001276HP:0001276Hypertonia0EDNRB CL E G H19103180OMIM:277580Waardenburg-Shah syndrome55
HP:0001276HP:0001276Hypertonia0EED CL E G H87263188ORPHA:3447Weaver syndromeHP:0040281 - Very frequent4
HP:0001276HP:0001276Hypertonia0EEF1A2 CL E G H19173192ORPHA:442835Non-specific early-onset epileptic encephalopathy60
HP:0001276HP:0001276Hypertonia0EIF2AK1 CL E G H2710224921OMIM:618878LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME; LEMSPAD
HP:0001276HP:0001276Hypertonia0EIF2AK2 CL E G H56109437OMIM:619687DYSTONIA 33; DYT33
HP:0001276HP:0001276Hypertonia0EIF2AK2 CL E G H56109437ORPHA:256Early-onset generalized limb-onset dystoniaHP:0040281 - Very frequent
HP:0001276HP:0001276Hypertonia0EIF2AK2 CL E G H56109437OMIM:618877LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0001276HP:0001276Hypertonia0EIF2AK3 CL E G H94513255OMIM:226980Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus.65
HP:0001276HP:0001276Hypertonia0EIF2B1 CL E G H19673257OMIM:603896Leukoencephalopathy with vanishing white matter42
HP:0001276HP:0001276Hypertonia0EIF2B2 CL E G H88923258OMIM:603896Leukoencephalopathy with vanishing white matter24
HP:0001276HP:0001276Hypertonia0EIF2B3 CL E G H88913259OMIM:603896Leukoencephalopathy with vanishing white matter32
HP:0001276HP:0001276Hypertonia0EIF2B4 CL E G H88903260OMIM:603896Leukoencephalopathy with vanishing white matter38
HP:0001276HP:0001276Hypertonia0EIF2B5 CL E G H88933261OMIM:603896Leukoencephalopathy with vanishing white matter48
HP:0001276HP:0001276Hypertonia0EIF2S3 CL E G H19683267ORPHA:85282MEHMO syndromeHP:0040282 - Frequent8
HP:0001276HP:0001276Hypertonia0EIF2S3 CL E G H19683267OMIM:300148Mehmo syndrome8
HP:0001276HP:0001276Hypertonia0EIF4G1 CL E G H19813296ORPHA:411602Hereditary late-onset Parkinson disease2
HP:0001276HP:0001276Hypertonia0EIF4G1 CL E G H19813296OMIM:614251Parkinson disease 182
HP:0001276HP:0001276Hypertonia0EIF4H CL E G H745812741ORPHA:904Williams syndrome
HP:0001276HP:0001276Hypertonia0ELN CL E G H20063327ORPHA:904Williams syndrome172
HP:0001276HP:0001276Hypertonia0ELOVL1 CL E G H6483414418OMIM:618527Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0001276HP:0001276Hypertonia0ELOVL4 CL E G H678514415OMIM:614457Ichthyosis, spastic quadriplegia, and mental retardation.62
HP:0001276HP:0001276Hypertonia0ELOVL4 CL E G H678514415OMIM:133190Spinocerebellar ataxia 3462
HP:0001276HP:0001276Hypertonia0ELP2 CL E G H5525018248OMIM:617270Mental retardation, autosomal recessive 586
HP:0001276HP:0001276Hypertonia0EMC1 CL E G H2306528957OMIM:616875Cerebellar atrophy, visual impairment, and psychomotor retardation5
HP:0001276HP:0001276Hypertonia0EMC1 CL E G H2306528957ORPHA:480898Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome5
HP:0001276HP:0001276Hypertonia0EML1 CL E G H20093330OMIM:600348Band heterotopia3
HP:0001276HP:0001276Hypertonia0ENTPD1 CL E G H9533363ORPHA:401810Autosomal recessive spastic paraplegia type 643
HP:0001276HP:0001276Hypertonia0ENTPD1 CL E G H9533363OMIM:615683Spastic paraplegia 64, autosomal recessive3
HP:0001276HP:0001276Hypertonia0EOGT CL E G H28520328526ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional4
HP:0001276HP:0001276Hypertonia0EPCAM CL E G H407211529ORPHA:144Lynch syndromeHP:0040282 - Frequent170
HP:0001276HP:0001276Hypertonia0EPHA4 CL E G H20433388ORPHA:803Amyotrophic lateral sclerosis4
HP:0001276HP:0001276Hypertonia0EPM2A CL E G H79573413ORPHA:501Lafora disease83
HP:0001276HP:0001276Hypertonia0EPRS1 CL E G H20583418OMIM:617951Leukodystrophy, hypomyelinating, 15
HP:0001276HP:0001276Hypertonia0ERBB4 CL E G H20663432ORPHA:803Amyotrophic lateral sclerosis15
HP:0001276HP:0001276Hypertonia0ERCC1 CL E G H20673433OMIM:610758Cerebrooculofacioskeletal syndrome 4.20
HP:0001276HP:0001276Hypertonia0ERCC1 CL E G H20673433ORPHA:90322Cockayne syndrome type 220
HP:0001276HP:0001276Hypertonia0ERCC1 CL E G H20673433ORPHA:1466COFS syndromeHP:0040281 - Very frequent20
HP:0001276HP:0001276Hypertonia0ERCC2 CL E G H20683434ORPHA:1466COFS syndromeHP:0040281 - Very frequent106
HP:0001276HP:0001276Hypertonia0ERCC2 CL E G H20683434ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional106
HP:0001276HP:0001276Hypertonia0ERCC2 CL E G H20683434ORPHA:910Xeroderma pigmentosum106
HP:0001276HP:0001276Hypertonia0ERCC2 CL E G H20683434OMIM:278730Xeroderma pigmentosum, complementation group D106
HP:0001276HP:0001276Hypertonia0ERCC2 CL E G H20683434ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complex106
HP:0001276HP:0001276Hypertonia0ERCC3 CL E G H20713435ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional54
HP:0001276HP:0001276Hypertonia0ERCC3 CL E G H20713435ORPHA:910Xeroderma pigmentosum54
HP:0001276HP:0001276Hypertonia0ERCC3 CL E G H20713435ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complex54
HP:0001276HP:0001276Hypertonia0ERCC4 CL E G H20723436ORPHA:90321Cockayne syndrome type 1158
HP:0001276HP:0001276Hypertonia0ERCC4 CL E G H20723436ORPHA:910Xeroderma pigmentosum158
HP:0001276HP:0001276Hypertonia0ERCC4 CL E G H20723436ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complex158
HP:0001276HP:0001276Hypertonia0ERCC5 CL E G H20733437ORPHA:1466COFS syndromeHP:0040281 - Very frequent83
HP:0001276HP:0001276Hypertonia0ERCC5 CL E G H20733437ORPHA:910Xeroderma pigmentosum83
HP:0001276HP:0001276Hypertonia0ERCC5 CL E G H20733437OMIM:278780Xeroderma pigmentosum, complementation group G83
HP:0001276HP:0001276Hypertonia0ERCC5 CL E G H20733437ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complex83
HP:0001276HP:0001276Hypertonia0ERCC6 CL E G H20743438ORPHA:90321Cockayne syndrome type 1199
HP:0001276HP:0001276Hypertonia0ERCC6 CL E G H20743438ORPHA:90322Cockayne syndrome type 2199
HP:0001276HP:0001276Hypertonia0ERCC6 CL E G H20743438ORPHA:1466COFS syndromeHP:0040281 - Very frequent199
HP:0001276HP:0001276Hypertonia0ERCC6 CL E G H20743438OMIM:278800De Sanctis-Cacchione syndrome199
HP:0001276HP:0001276Hypertonia0ERCC8 CL E G H11613439ORPHA:90321Cockayne syndrome type 155
HP:0001276HP:0001276Hypertonia0ERCC8 CL E G H11613439ORPHA:90322Cockayne syndrome type 255
HP:0001276HP:0001276Hypertonia0ERLIN1 CL E G H1061316947ORPHA:401785Autosomal recessive spastic paraplegia type 622
HP:0001276HP:0001276Hypertonia0ERLIN1 CL E G H1061316947OMIM:615681Spastic paraplegia 62, autosomal recessive2
HP:0001276HP:0001276Hypertonia0ERLIN2 CL E G H111601356ORPHA:209951Autosomal recessive spastic paraplegia type 1818
HP:0001276HP:0001276Hypertonia0ERLIN2 CL E G H111601356ORPHA:247604Juvenile primary lateral sclerosis18
HP:0001276HP:0001276Hypertonia0ERLIN2 CL E G H111601356OMIM:611225Spastic paraplegia 18, autosomal recessive18
HP:0001276HP:0001276Hypertonia0EXOC2 CL E G H5577024968OMIM:619306NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH1
HP:0001276HP:0001276Hypertonia0EXOC8 CL E G H14937124659OMIM:619076NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY; NEDMISB1
HP:0001276HP:0001276Hypertonia0EXOSC3 CL E G H5101017944ORPHA:2254Pontocerebellar hypoplasia type 138
HP:0001276HP:0001276Hypertonia0EXOSC3 CL E G H5101017944OMIM:614678Pontocerebellar hypoplasia, type 1B38
HP:0001276HP:0001276Hypertonia0EXOSC5 CL E G H5691524662OMIM:619576CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0001276HP:0001276Hypertonia0EXOSC8 CL E G H1134017035ORPHA:2254Pontocerebellar hypoplasia type 14
HP:0001276HP:0001276Hypertonia0EXOSC8 CL E G H1134017035OMIM:616081Pontocerebellar hypoplasia, type 1C4
HP:0001276HP:0001276Hypertonia0EXOSC9 CL E G H53939137ORPHA:2254Pontocerebellar hypoplasia type 1
HP:0001276HP:0001276Hypertonia0EXOSC9 CL E G H53939137OMIM:618065Pontocerebellar hypoplasia, type 1D
HP:0001276HP:0001276Hypertonia0EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndromeHP:0040283 - Occasional3
HP:0001276HP:0001276Hypertonia0EYA1 CL E G H21383519ORPHA:2792Otofaciocervical syndromeHP:0040281 - Very frequent135
HP:0001276HP:0001276Hypertonia0EZH2 CL E G H21463527OMIM:277590Weaver syndrome.81
HP:0001276HP:0001276Hypertonia0EZH2 CL E G H21463527ORPHA:3447Weaver syndromeHP:0040281 - Very frequent81
HP:0001276HP:0001276Hypertonia0FA2H CL E G H7915221197ORPHA:171629Autosomal recessive spastic paraplegia type 3576
HP:0001276HP:0001276Hypertonia0FA2H CL E G H7915221197ORPHA:329308Fatty acid hydroxylase-associated neurodegeneration76
HP:0001276HP:0001276Hypertonia0FA2H CL E G H7915221197OMIM:612319Spastic paraplegia 35, autosomal recessive76
HP:0001276HP:0001276Hypertonia0FAN1 CL E G H2290929170ORPHA:144Lynch syndromeHP:0040282 - Frequent15
HP:0001276HP:0001276Hypertonia0FAR1 CL E G H8418826222ORPHA:447753Autosomal dominant spastic paraplegia type 9A7
HP:0001276HP:0001276Hypertonia0FAR1 CL E G H8418826222OMIM:619338CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY; CSPSD7
HP:0001276HP:0001276Hypertonia0FAR1 CL E G H8418826222ORPHA:438178Fatty acyl-CoA reductase 1 deficiency7
HP:0001276HP:0001276Hypertonia0FAR1 CL E G H8418826222OMIM:616154PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD7
HP:0001276HP:0001276Hypertonia0FARS2 CL E G H1066721062ORPHA:466722Autosomal recessive spastic paraplegia type 7736
HP:0001276HP:0001276Hypertonia0FARS2 CL E G H1066721062OMIM:617046Spastic paraplegia 77, autosomal recessive36
HP:0001276HP:0001276Hypertonia0FBLN1 CL E G H21923600ORPHA:404451FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome12
HP:0001276HP:0001276Hypertonia0FBXO7 CL E G H2579313586OMIM:260300Parkinson disease 15, autosomal recessive early-onset36
HP:0001276HP:0001276Hypertonia0FBXO7 CL E G H2579313586ORPHA:171695Parkinsonian-pyramidal syndrome36
HP:0001276HP:0001276Hypertonia0FBXW11 CL E G H2329113607OMIM:618914NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0001276HP:0001276Hypertonia0FCSK CL E G H19725829500OMIM:618324Congenital disorder of glycosylation with defective fucosylation 2
HP:0001276HP:0001276Hypertonia0FDX2 CL E G H11281230546OMIM:251900Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
HP:0001276HP:0001276Hypertonia0FDXR CL E G H22323642ORPHA:543470Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndromeHP:0040283 - Occasional
HP:0001276HP:0001276Hypertonia0FGF12 CL E G H22573668ORPHA:442835Non-specific early-onset epileptic encephalopathy3
HP:0001276HP:0001276Hypertonia0FGF13 CL E G H22583670OMIM:301058DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE901
HP:0001276HP:0001276Hypertonia0FGF13 CL E G H22583670ORPHA:442835Non-specific early-onset epileptic encephalopathy1
HP:0001276HP:0001276Hypertonia0FGF8 CL E G H22533686ORPHA:93925Alobar holoprosencephaly17
HP:0001276HP:0001276Hypertonia0FGF8 CL E G H22533686ORPHA:93924Lobar holoprosencephaly17
HP:0001276HP:0001276Hypertonia0FGF8 CL E G H22533686ORPHA:93926Midline interhemispheric variant of holoprosencephaly17
HP:0001276HP:0001276Hypertonia0FGF8 CL E G H22533686ORPHA:220386Semilobar holoprosencephaly17
HP:0001276HP:0001276Hypertonia0FGFR1 CL E G H22603688ORPHA:2396Encephalocraniocutaneous lipomatosisHP:0040282 - Frequent172
HP:0001276HP:0001276Hypertonia0FGFR1 CL E G H22603688ORPHA:93924Lobar holoprosencephaly172
HP:0001276HP:0001276Hypertonia0FGFR1 CL E G H22603688ORPHA:220386Semilobar holoprosencephaly172
HP:0001276HP:0001276Hypertonia0FIG4 CL E G H989616873ORPHA:803Amyotrophic lateral sclerosis111
HP:0001276HP:0001276Hypertonia0FIG4 CL E G H989616873ORPHA:208441Bilateral parasagittal parieto-occipital polymicrogyria111
HP:0001276HP:0001276Hypertonia0FKBP6 CL E G H84683722ORPHA:904Williams syndrome
HP:0001276HP:0001276Hypertonia0FKRP CL E G H7914717997ORPHA:588Muscle-eye-brain diseaseHP:0040282 - Frequent157
HP:0001276HP:0001276Hypertonia0FKTN CL E G H22183622ORPHA:588Muscle-eye-brain diseaseHP:0040282 - Frequent184
HP:0001276HP:0001276Hypertonia0FLNA CL E G H23163754OMIM:300048Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked493
HP:0001276HP:0001276Hypertonia0FLRT1 CL E G H237693760ORPHA:320406Spastic paraplegia-optic atrophy-neuropathy syndrome
HP:0001276HP:0001276Hypertonia0FMR1 CL E G H23323775ORPHA:93256Fragile X-associated tremor/ataxia syndrome30
HP:0001276HP:0001276Hypertonia0FOXG1 CL E G H22903811OMIM:613454Rett syndrome, congenital variant177
HP:0001276HP:0001276Hypertonia0FOXH1 CL E G H89283814ORPHA:93925Alobar holoprosencephaly48
HP:0001276HP:0001276Hypertonia0FOXH1 CL E G H89283814ORPHA:93924Lobar holoprosencephaly48
HP:0001276HP:0001276Hypertonia0FOXH1 CL E G H89283814ORPHA:93926Midline interhemispheric variant of holoprosencephaly48
HP:0001276HP:0001276Hypertonia0FOXH1 CL E G H89283814ORPHA:220386Semilobar holoprosencephaly48
HP:0001276HP:0001276Hypertonia0FOXP1 CL E G H270863823ORPHA:391372Intellectual disability-severe speech delay-mild dysmorphism syndrome184
HP:0001276HP:0001276Hypertonia0FOXRED1 CL E G H5557226927ORPHA:255241Leigh syndrome with leukodystrophy61
HP:0001276HP:0001276Hypertonia0FOXRED1 CL E G H5557226927OMIM:618241Mitochondrial complex I deficiency, nuclear type 1961
HP:0001276HP:0001276Hypertonia0FRMD4A CL E G H5569125491ORPHA:466688Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndromeHP:0040282 - Frequent1
HP:0001276HP:0001276Hypertonia0FRMD5 CL E G H8497828214OMIM:620094
HP:0001276HP:0001276Hypertonia0FRMPD4 CL E G H975829007OMIM:300983MENTAL RETARDATION, X-LINKED 104; MRX10432
HP:0001276HP:0001276Hypertonia0FRRS1L CL E G H237321362OMIM:616981Epileptic encephalopathy, early infantile, 374
HP:0001276HP:0001276Hypertonia0FTL CL E G H25123999OMIM:606159Neurodegeneration with brain iron accumulation 333
HP:0001276HP:0001276Hypertonia0FTO CL E G H7906824678OMIM:612938Growth retardation, developmental delay, coarse facies, and earlydeath.70
HP:0001276HP:0001276Hypertonia0FUCA1 CL E G H25174006OMIM:230000FUCOSIDOSIS43
HP:0001276HP:0001276Hypertonia0FUCA1 CL E G H25174006ORPHA:349Fucosidosis43
HP:0001276HP:0001276Hypertonia0FUS CL E G H25214010ORPHA:803Amyotrophic lateral sclerosis105
HP:0001276HP:0001276Hypertonia0FUS CL E G H25214010ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040282 - Frequent105
HP:0001276HP:0001276Hypertonia0FUZ CL E G H8019926219ORPHA:1136Arnold-Chiari malformation type II3
HP:0001276HP:0001276Hypertonia0FXN CL E G H23953951ORPHA:95Friedreich ataxia18
HP:0001276HP:0001276Hypertonia0FZR1 CL E G H5134324824ORPHA:442835Non-specific early-onset epileptic encephalopathy
HP:0001276HP:0001276Hypertonia0GABBR2 CL E G H95684507ORPHA:3095Atypical Rett syndrome5
HP:0001276HP:0001276Hypertonia0GABBR2 CL E G H95684507ORPHA:442835Non-specific early-onset epileptic encephalopathy5
HP:0001276HP:0001276Hypertonia0GABRA1 CL E G H25544075ORPHA:33069Dravet syndrome134
HP:0001276HP:0001276Hypertonia0GABRA2 CL E G H25554076OMIM:618557DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 78; DEE784
HP:0001276HP:0001276Hypertonia0GABRA2 CL E G H25554076ORPHA:442835Non-specific early-onset epileptic encephalopathy4
HP:0001276HP:0001276Hypertonia0GABRA5 CL E G H25584079OMIM:618559DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79; DEE79
HP:0001276HP:0001276Hypertonia0GABRA5 CL E G H25584079ORPHA:442835Non-specific early-onset epileptic encephalopathy
HP:0001276HP:0001276Hypertonia0GABRB2 CL E G H25614082OMIM:617829Epileptic encephalopathy, infantile or early childhood, 244
HP:0001276HP:0001276Hypertonia0GABRB2 CL E G H25614082ORPHA:442835Non-specific early-onset epileptic encephalopathy44
HP:0001276HP:0001276Hypertonia0GABRG2 CL E G H25664087ORPHA:33069Dravet syndrome139
HP:0001276HP:0001276Hypertonia0GABRG2 CL E G H25664087ORPHA:442835Non-specific early-onset epileptic encephalopathy139
HP:0001276HP:0001276Hypertonia0GAD1 CL E G H25714092OMIM:619124DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE8944
HP:0001276HP:0001276Hypertonia0GALC CL E G H25814115ORPHA:206448Adult Krabbe disease160
HP:0001276HP:0001276Hypertonia0GALC CL E G H25814115ORPHA:206436Infantile Krabbe disease160
HP:0001276HP:0001276Hypertonia0GALC CL E G H25814115OMIM:245200Krabbe disease.160
HP:0001276HP:0001276Hypertonia0GALC CL E G H25814115ORPHA:206443Late-infantile/juvenile Krabbe disease160
HP:0001276HP:0001276Hypertonia0GAMT CL E G H25934136OMIM:612736Cerebral creatine deficiency syndrome 2.91
HP:0001276HP:0001276Hypertonia0GAN CL E G H81394137ORPHA:643Giant axonal neuropathy121
HP:0001276HP:0001276Hypertonia0GAN CL E G H81394137OMIM:256850Giant axonal neuropathy 1, autosomal recessive121
HP:0001276HP:0001276Hypertonia0GAS1 CL E G H26194165ORPHA:93925Alobar holoprosencephaly2
HP:0001276HP:0001276Hypertonia0GAS1 CL E G H26194165ORPHA:93924Lobar holoprosencephaly2
HP:0001276HP:0001276Hypertonia0GAS1 CL E G H26194165ORPHA:93926Midline interhemispheric variant of holoprosencephaly2
HP:0001276HP:0001276Hypertonia0GAS1 CL E G H26194165ORPHA:220386Semilobar holoprosencephaly2
HP:0001276HP:0001276Hypertonia0GATAD2B CL E G H5745930778ORPHA:363686Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome33
HP:0001276HP:0001276Hypertonia0GBA1 CL E G H26294177ORPHA:85212Fetal Gaucher diseaseHP:0040282 - Frequent
HP:0001276HP:0001276Hypertonia0GBA1 CL E G H26294177ORPHA:77260Gaucher disease type 2
HP:0001276HP:0001276Hypertonia0GBA1 CL E G H26294177OMIM:608013Gaucher disease, perinatal lethal
HP:0001276HP:0001276Hypertonia0GBA1 CL E G H26294177OMIM:230900Gaucher disease, type II
HP:0001276HP:0001276Hypertonia0GBA1 CL E G H26294177OMIM:231000Gaucher disease, type III
HP:0001276HP:0001276Hypertonia0GBA1 CL E G H26294177ORPHA:2072Gaucher disease-ophthalmoplegia-cardiovascular calcification syndromeHP:0040284 - Very rare
HP:0001276HP:0001276Hypertonia0GBA1 CL E G H26294177ORPHA:411602Hereditary late-onset Parkinson disease
HP:0001276HP:0001276Hypertonia0GBA1 CL E G H26294177OMIM:168600Parkinson disease, late-onset
HP:0001276HP:0001276Hypertonia0GBA2 CL E G H5770418986ORPHA:352641Autosomal recessive cerebellar ataxia with late-onset spasticity30
HP:0001276HP:0001276Hypertonia0GBA2 CL E G H5770418986ORPHA:320391Autosomal recessive spastic paraplegia type 4630
HP:0001276HP:0001276Hypertonia0GBA2 CL E G H5770418986OMIM:614409Spastic paraplegia 46, autosomal recessive30
HP:0001276HP:0001276Hypertonia0GBE1 CL E G H26324180ORPHA:206583Adult polyglucosan body disease86
HP:0001276HP:0001276Hypertonia0GBE1 CL E G H26324180OMIM:263570Polyglucosan body neuropathy, adult form86
HP:0001276HP:0001276Hypertonia0GCDH CL E G H26394189OMIM:231670Glutaric acidemia I115
HP:0001276HP:0001276Hypertonia0GCDH CL E G H26394189ORPHA:25Glutaryl-CoA dehydrogenase deficiency115
HP:0001276HP:0001276Hypertonia0GCH1 CL E G H26434193ORPHA:98808Autosomal dominant dopa-responsive dystonia86
HP:0001276HP:0001276Hypertonia0GCH1 CL E G H26434193OMIM:128230Dystonia, DOPA-responsive, with or without hyperphenylalaninemia86
HP:0001276HP:0001276Hypertonia0GCH1 CL E G H26434193OMIM:233910Hyperphenylalaninemia, BH4-deficient, B86
HP:0001276HP:0001276Hypertonia0GDAP2 CL E G H5483418010OMIM:618369Spinocerebellar ataxia, autosomal recessive 27
HP:0001276HP:0001276Hypertonia0GEMIN4 CL E G H5062815717OMIM:617913Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities1
HP:0001276HP:0001276Hypertonia0GFAP CL E G H26704235OMIM:203450Alexander disease188
HP:0001276HP:0001276Hypertonia0GFAP CL E G H26704235ORPHA:363717Alexander disease type I188
HP:0001276HP:0001276Hypertonia0GFAP CL E G H26704235ORPHA:363722Alexander disease type II188
HP:0001276HP:0001276Hypertonia0GFM1 CL E G H8547613780OMIM:609060Combined oxidative phosphorylation deficiency 185
HP:0001276HP:0001276Hypertonia0GFM2 CL E G H8434029682ORPHA:565624Combined oxidative phosphorylation defect type 3943
HP:0001276HP:0001276Hypertonia0GFM2 CL E G H8434029682OMIM:618397Combined oxidative phosphorylation deficiency 3943
HP:0001276HP:0001276Hypertonia0GIGYF2 CL E G H2605811960ORPHA:411602Hereditary late-onset Parkinson disease8
HP:0001276HP:0001276Hypertonia0GIGYF2 CL E G H2605811960OMIM:607688PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK118
HP:0001276HP:0001276Hypertonia0GJA1 CL E G H26974274OMIM:164200Oculodentodigital dysplasia68
HP:0001276HP:0001276Hypertonia0GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasia68
HP:0001276HP:0001276Hypertonia0GJB1 CL E G H27054283ORPHA:1175X-linked progressive cerebellar ataxia107
HP:0001276HP:0001276Hypertonia0GJC2 CL E G H5716517494ORPHA:320401Autosomal recessive spastic paraplegia type 4437
HP:0001276HP:0001276Hypertonia0GJC2 CL E G H5716517494OMIM:608804Leukodystrophy, hypomyelinating, 237
HP:0001276HP:0001276Hypertonia0GJC2 CL E G H5716517494OMIM:613206Spastic paraplegia 44, autosomal recessive37
HP:0001276HP:0001276Hypertonia0GLB1 CL E G H27204298ORPHA:79255GM1 gangliosidosis type 1120
HP:0001276HP:0001276Hypertonia0GLB1 CL E G H27204298OMIM:230500GM1-gangliosidosis, type I120
HP:0001276HP:0001276Hypertonia0GLB1 CL E G H27204298OMIM:230600Gm1-gangliosidosis, type II120
HP:0001276HP:0001276Hypertonia0GLE1 CL E G H27334315ORPHA:803Amyotrophic lateral sclerosis45
HP:0001276HP:0001276Hypertonia0GLI2 CL E G H27364318ORPHA:93925Alobar holoprosencephaly173
HP:0001276HP:0001276Hypertonia0GLI2 CL E G H27364318ORPHA:93924Lobar holoprosencephaly173
HP:0001276HP:0001276Hypertonia0GLI2 CL E G H27364318ORPHA:93926Midline interhemispheric variant of holoprosencephaly173
HP:0001276HP:0001276Hypertonia0GLI2 CL E G H27364318ORPHA:220386Semilobar holoprosencephaly173
HP:0001276HP:0001276Hypertonia0GLRA1 CL E G H27414326ORPHA:3197Hereditary hyperekplexiaHP:0040281 - Very frequent63
HP:0001276HP:0001276Hypertonia0GLRA1 CL E G H27414326OMIM:149400Hyperekplexia 1.63
HP:0001276HP:0001276Hypertonia0GLRB CL E G H27434329ORPHA:3197Hereditary hyperekplexiaHP:0040281 - Very frequent46
HP:0001276HP:0001276Hypertonia0GLRB CL E G H27434329OMIM:614619Hyperekplexia 2.46
HP:0001276HP:0001276Hypertonia0GLRX5 CL E G H5121820134ORPHA:401866Childhood-onset spasticity with hyperglycinemiaHP:0040282 - Frequent17
HP:0001276HP:0001276Hypertonia0GLRX5 CL E G H5121820134OMIM:616859Spasticity, childhood-onset, with hyperglycinemia17
HP:0001276HP:0001276Hypertonia0GLT8D1 CL E G H5583024870ORPHA:803Amyotrophic lateral sclerosis
HP:0001276HP:0001276Hypertonia0GLUD2 CL E G H27474336OMIM:168600Parkinson disease, late-onset1
HP:0001276HP:0001276Hypertonia0GLYCTK CL E G H13215824247OMIM:220120D-GLYCERIC ACIDURIA6
HP:0001276HP:0001276Hypertonia0GLYCTK CL E G H13215824247ORPHA:941D-glyceric aciduria6
HP:0001276HP:0001276Hypertonia0GM2A CL E G H27604367ORPHA:309246GM2 gangliosidosis, AB variant69
HP:0001276HP:0001276Hypertonia0GM2A CL E G H27604367OMIM:272750Gm2-Gangliosidosis, ab variant.69
HP:0001276HP:0001276Hypertonia0GMPPA CL E G H2992622923OMIM:615510Alacrima, achalasia, and mental retardation syndrome24
HP:0001276HP:0001276Hypertonia0GMPPB CL E G H2992522932ORPHA:588Muscle-eye-brain diseaseHP:0040282 - Frequent34
HP:0001276HP:0001276Hypertonia0GMPPB CL E G H2992522932OMIM:615351MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14.34
HP:0001276HP:0001276Hypertonia0GNAI1 CL E G H27704384OMIM:619854
HP:0001276HP:0001276Hypertonia0GNAO1 CL E G H27754389ORPHA:1934Early infantile epileptic encephalopathy36
HP:0001276HP:0001276Hypertonia0GNAO1 CL E G H27754389OMIM:617493Neurodevelopmental disorder with involuntary movements36
HP:0001276HP:0001276Hypertonia0GNB1 CL E G H27824396ORPHA:488613Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome12
HP:0001276HP:0001276Hypertonia0GNB1 CL E G H27824396OMIM:616973Mental retardation, autosomal dominant 4212
HP:0001276HP:0001276Hypertonia0GOT2 CL E G H28064433OMIM:618721DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82
HP:0001276HP:0001276Hypertonia0GPAA1 CL E G H87334446OMIM:617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15
HP:0001276HP:0001276Hypertonia0GPAA1 CL E G H87334446ORPHA:529665Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome
HP:0001276HP:0001276Hypertonia0GPHN CL E G H1024315465ORPHA:3197Hereditary hyperekplexiaHP:0040281 - Very frequent18
HP:0001276HP:0001276Hypertonia0GPHN CL E G H1024315465OMIM:149400Hyperekplexia 1.18
HP:0001276HP:0001276Hypertonia0GPHN CL E G H1024315465OMIM:615501Molybdenum cofactor deficiency, complementation group C.18
HP:0001276HP:0001276Hypertonia0GPT2 CL E G H8470618062OMIM:616281Mental retardation, autosomal recessive 494
HP:0001276HP:0001276Hypertonia0GPT2 CL E G H8470618062ORPHA:477673Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome4
HP:0001276HP:0001276Hypertonia0GRIA2 CL E G H28914572OMIM:618917NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; NEDLIB1
HP:0001276HP:0001276Hypertonia0GRIA3 CL E G H28924573OMIM:300699Mental retardation, X-linked 9430
HP:0001276HP:0001276Hypertonia0GRIA3 CL E G H28924573ORPHA:364028X-linked intellectual disability due to GRIA3 mutations30
HP:0001276HP:0001276Hypertonia0GRIA4 CL E G H28934574OMIM:617864Neurodevelopmental disorder with or without seizures and gait abnormalities.HP:0003623 - Neonatal onset
HP:0001276HP:0001276Hypertonia0GRIK2 CL E G H28984580OMIM:619580NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS32
HP:0001276HP:0001276Hypertonia0GRIN1 CL E G H29024584ORPHA:208447Bilateral generalized polymicrogyria108
HP:0001276HP:0001276Hypertonia0GRIN1 CL E G H29024584OMIM:619814DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101; DEE101108
HP:0001276HP:0001276Hypertonia0GRIN1 CL E G H29024584ORPHA:1934Early infantile epileptic encephalopathy108
HP:0001276HP:0001276Hypertonia0GRIN1 CL E G H29024584OMIM:614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant108
HP:0001276HP:0001276Hypertonia0GRIN1 CL E G H29024584OMIM:617820Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive108
HP:0001276HP:0001276Hypertonia0GRIN2A CL E G H29034585ORPHA:289266Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutationHP:0040283 - Occasional434
HP:0001276HP:0001276Hypertonia0GRIN2B CL E G H29044586OMIM:616139Epileptic encephalopathy, early infantile, 27274
HP:0001276HP:0001276Hypertonia0GRIN2B CL E G H29044586OMIM:613970Mental retardation, autosomal dominant 6, with or without seizures274
HP:0001276HP:0001276Hypertonia0GRIN2D CL E G H29064588OMIM:617162Epileptic encephalopathy, early infantile, 46.2
HP:0001276HP:0001276Hypertonia0GRIN2D CL E G H29064588ORPHA:442835Non-specific early-onset epileptic encephalopathy2
HP:0001276HP:0001276Hypertonia0GRM1 CL E G H29114593OMIM:617691SPINOCEREBELLAR ATAXIA 44; SCA448
HP:0001276HP:0001276Hypertonia0GRM7 CL E G H29174599ORPHA:1934Early infantile epileptic encephalopathy5
HP:0001276HP:0001276Hypertonia0GRM7 CL E G H29174599OMIM:618922NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA5
HP:0001276HP:0001276Hypertonia0GSS CL E G H29374624OMIM:266130Glutathione synthetase deficiency39
HP:0001276HP:0001276Hypertonia0GSX2 CL E G H17082524959OMIM:618646DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2; DMJDS2
HP:0001276HP:0001276Hypertonia0GTF2E2 CL E G H29614651ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional2
HP:0001276HP:0001276Hypertonia0GTF2H5 CL E G H40467221157ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0001276HP:0001276Hypertonia0GTF2H5 CL E G H40467221157OMIM:616395Trichothiodystrophy 3, photosensitive3
HP:0001276HP:0001276Hypertonia0GTF2I CL E G H29694659ORPHA:904Williams syndrome1
HP:0001276HP:0001276Hypertonia0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndrome1
HP:0001276HP:0001276Hypertonia0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndrome1
HP:0001276HP:0001276Hypertonia0GTPBP2 CL E G H546764670OMIM:617988Jaberi-Elahi syndrome
HP:0001276HP:0001276Hypertonia0GUF1 CL E G H6055825799OMIM:617065Epileptic encephalopathy, early infantile, 402
HP:0001276HP:0001276Hypertonia0H1-4 CL E G H30084718OMIM:617537Rahman syndrome.HP:0003623 - Neonatal onset
HP:0001276HP:0001276Hypertonia0H3-3A CL E G H30204764OMIM:619720BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0001276HP:0001276Hypertonia0H4C5 CL E G H83674790OMIM:619950
HP:0001276HP:0001276Hypertonia0HACE1 CL E G H5753121033OMIM:616756Spastic paraplegia and psychomotor retardation with or without seizures10
HP:0001276HP:0001276Hypertonia0HACE1 CL E G H5753121033ORPHA:464282Spastic paraplegia-severe developmental delay-epilepsy syndrome10
HP:0001276HP:0001276Hypertonia0HCN1 CL E G H3489804845ORPHA:442835Non-specific early-onset epileptic encephalopathy54
HP:0001276HP:0001276Hypertonia0HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent37
HP:0001276HP:0001276Hypertonia0HEPACAM CL E G H22029626361OMIM:604004Megalencephalic leukoencephalopathy with subcortical cysts 182
HP:0001276HP:0001276Hypertonia0HEPACAM CL E G H22029626361OMIM:613925Megalencephalic leukoencephalopathy with subcortical cysts 2A.82
HP:0001276HP:0001276Hypertonia0HEXB CL E G H30744879OMIM:268800Sandhoff disease80
HP:0001276HP:0001276Hypertonia0HEXB CL E G H30744879ORPHA:309169Sandhoff disease, adult form80
HP:0001276HP:0001276Hypertonia0HEXB CL E G H30744879ORPHA:309155Sandhoff disease, infantile form80
HP:0001276HP:0001276Hypertonia0HID1 CL E G H28398715736OMIM:619983
HP:0001276HP:0001276Hypertonia0HIKESHI CL E G H5150126938OMIM:616881Leukodystrophy, hypomyelinating, 13.3
HP:0001276HP:0001276Hypertonia0HK1 CL E G H30984922OMIM:618547NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA11
HP:0001276HP:0001276Hypertonia0HLA-DQB1 CL E G H31194944OMIM:123400Creutzfeldt-Jakob disease
HP:0001276HP:0001276Hypertonia0HLA-DQB1 CL E G H31194944OMIM:126200Multiple sclerosis, susceptibility to
HP:0001276HP:0001276Hypertonia0HLA-DRB1 CL E G H31234948OMIM:126200Multiple sclerosis, susceptibility to2
HP:0001276HP:0001276Hypertonia0HLCS CL E G H31414976OMIM:253270Holocarboxylase synthetase deficiency.148
HP:0001276HP:0001276Hypertonia0HMGCL CL E G H31555005ORPHA:203-hydroxy-3-methylglutaric aciduria35
HP:0001276HP:0001276Hypertonia0HMGCL CL E G H31555005OMIM:2464503-Hydroxy-3-Methylglutaryl-Coa lyase deficiency35
HP:0001276HP:0001276Hypertonia0HNRNPA1 CL E G H31785031ORPHA:803Amyotrophic lateral sclerosis31
HP:0001276HP:0001276Hypertonia0HNRNPH2 CL E G H31885042OMIM:300986MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB3
HP:0001276HP:0001276Hypertonia0HPDL CL E G H8484228242OMIM:619026NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0001276HP:0001276Hypertonia0HPDL CL E G H8484228242OMIM:619027SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE; SPG83
HP:0001276HP:0001276Hypertonia0HPRT1 CL E G H32515157OMIM:300322Lesch-Nyhan syndrome76
HP:0001276HP:0001276Hypertonia0HPRT1 CL E G H32515157ORPHA:510Lesch-Nyhan syndrome76
HP:0001276HP:0001276Hypertonia0HS2ST1 CL E G H96535193OMIM:619194NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0001276HP:0001276Hypertonia0HSD17B10 CL E G H30284800ORPHA:391428HSD10 disease, infantile type19
HP:0001276HP:0001276Hypertonia0HSD17B10 CL E G H30284800OMIM:300438HSD10 mitochondrial disease19
HP:0001276HP:0001276Hypertonia0HSD17B4 CL E G H32955213OMIM:233400Perrault syndrome 198
HP:0001276HP:0001276Hypertonia0HSPD1 CL E G H33295261ORPHA:100994Autosomal dominant spastic paraplegia type 1346
HP:0001276HP:0001276Hypertonia0HSPD1 CL E G H33295261OMIM:612233Leukodystrophy, hypomyelinating, 446
HP:0001276HP:0001276Hypertonia0HSPD1 CL E G H33295261OMIM:605280Spastic paraplegia 13, autosomal dominant46
HP:0001276HP:0001276Hypertonia0HSPG2 CL E G H33395273ORPHA:800Schwartz-Jampel syndromeHP:0040281 - Very frequent345
HP:0001276HP:0001276Hypertonia0HTRA1 CL E G H56549476OMIM:600142Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)34
HP:0001276HP:0001276Hypertonia0HTRA1 CL E G H56549476ORPHA:199354Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy34
HP:0001276HP:0001276Hypertonia0HTRA2 CL E G H2742914348OMIM:6172483-methylglutaconic aciduria, type VIII.39
HP:0001276HP:0001276Hypertonia0HTRA2 CL E G H2742914348OMIM:610297PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK1339
HP:0001276HP:0001276Hypertonia0HTRA2 CL E G H2742914348ORPHA:2828Young-onset Parkinson disease39
HP:0001276HP:0001276Hypertonia0HTT CL E G H30644851OMIM:143100Huntington disease12
HP:0001276HP:0001276Hypertonia0HTT CL E G H30644851ORPHA:399Huntington disease12
HP:0001276HP:0001276Hypertonia0HTT CL E G H30644851ORPHA:248111Juvenile Huntington disease12
HP:0001276HP:0001276Hypertonia0HTT CL E G H30644851OMIM:617435Lopes-Maciel-Rodan syndrome.12
HP:0001276HP:0001276Hypertonia0HUWE1 CL E G H1007530892OMIM:309590Mental retardation, x-linked syndromic, Turner type98
HP:0001276HP:0001276Hypertonia0IARS1 CL E G H33765330ORPHA:541423Growth delay-intellectual disability-hepatopathy syndrome
HP:0001276HP:0001276Hypertonia0IARS1 CL E G H33765330OMIM:617093Growth retardation, impaired intellectual development, hypotonia, and hepatopathy
HP:0001276HP:0001276Hypertonia0IBA57 CL E G H20020527302ORPHA:468661Autosomal recessive spastic paraplegia type 7416
HP:0001276HP:0001276Hypertonia0IBA57 CL E G H20020527302OMIM:615330Multiple mitochondrial dysfunctions syndrome 316
HP:0001276HP:0001276Hypertonia0IBA57 CL E G H20020527302OMIM:616451Spastic paraplegia 74, autosomal recessive16
HP:0001276HP:0001276Hypertonia0IDUA CL E G H34255391ORPHA:93473Hurler syndrome115
HP:0001276HP:0001276Hypertonia0IDUA CL E G H34255391ORPHA:93474Scheie syndrome115
HP:0001276HP:0001276Hypertonia0IFIH1 CL E G H6413518873ORPHA:51Aicardi-Goutières syndromeHP:0040281 - Very frequent28
HP:0001276HP:0001276Hypertonia0IFIH1 CL E G H6413518873OMIM:615846Aicardi-Goutieres syndrome 728
HP:0001276HP:0001276Hypertonia0IKBKG CL E G H85175961ORPHA:464Incontinentia pigmenti52
HP:0001276HP:0001276Hypertonia0IKBKG CL E G H85175961OMIM:308300Incontinentia pigmenti52
HP:0001276HP:0001276Hypertonia0IMPDH2 CL E G H36156053ORPHA:98808Autosomal dominant dopa-responsive dystonia1
HP:0001276HP:0001276Hypertonia0INPP5K CL E G H5176333882ORPHA:559Marinesco-Sjögren syndromeHP:0040282 - Frequent7
HP:0001276HP:0001276Hypertonia0INPP5K CL E G H5176333882OMIM:617404Muscular dystrophy, congenital, with cataracts and intellectual disability7
HP:0001276HP:0001276Hypertonia0INTS8 CL E G H5565626048OMIM:618572NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY; NEDCHS2
HP:0001276HP:0001276Hypertonia0IREB2 CL E G H36586115OMIM:618451Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
HP:0001276HP:0001276Hypertonia0IRF2BPL CL E G H6420714282OMIM:618088Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
HP:0001276HP:0001276Hypertonia0ISCA1 CL E G H8168928660OMIM:617613Multiple mitochondrial dysfunctions syndrome 51
HP:0001276HP:0001276Hypertonia0ISCA2 CL E G H12296119857OMIM:616370Multiple mitochondrial dysfunctions syndrome 47
HP:0001276HP:0001276Hypertonia0ITM2B CL E G H94456174OMIM:176500Cerebral amyloid angiopathy, itm2b-related, 1.3
HP:0001276