Human Phenotype Ontology 
Grandparent Node:
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Abnormal central motor function (HP:0011442)help
Parent Node:
expand
Abnormal muscle tone (HP:0003808)help
Parent Node:
expand
Upper motor neuron dysfunction (HP:0002493)help
..Starting node
..expand
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 entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001276HP:0001276Hypertonia0ABCA7 CL E G H103471020ORPHA114837605414
HP:0001276HP:0001276Hypertonia0ACD CL E G H650573322ORPHA183425070609377
HP:0001276HP:0001276Hypertonia0ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1517119609751
HP:0001276HP:0001276Hypertonia0AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1385315604581
HP:0001276HP:0001276Hypertonia0ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM117923056608750
HP:0001276HP:0001276Hypertonia0APP CL E G H3511020ORPHA1404620104760
HP:0001276HP:0001276Hypertonia0ARHGEF9 CL E G H23229300607Early infantile epileptic encephalopathy 8300607C1845102OMIM143914561300429
HP:0001276HP:0001276Hypertonia0ARV1 CL E G H64801617020Epileptic encephalopathy, early infantile, 38617020C4310762OMIM17129561611647
HP:0001276HP:0001276Hypertonia0ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM167918060300382
HP:0001276HP:0001276Hypertonia0ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM111625903614452
HP:0001276HP:0001276Hypertonia0ATP7A CL E G H538309400Menkes kinky-hair syndrome309400C0022716OMIM11283869300011
HP:0001276HP:0001276Hypertonia0B3GALNT2 CL E G H148789588ORPHA146228596610194
HP:0001276HP:0001276Hypertonia0BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1495986608348
HP:0001276HP:0001276Hypertonia0BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1547987248611
HP:0001276HP:0001276Hypertonia0BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM19481097164757
HP:0001276HP:0001276Hypertonia0BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM196021701614506
HP:0001276HP:0001276Hypertonia0BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM196021701614506
HP:0001276HP:0001276Hypertonia0CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM126891388601011
HP:0001276HP:0001276Hypertonia0CLCF1 CL E G H235291545Corsello Opitz syndromeORPHA13317412607672
HP:0001276HP:0001276Hypertonia0COG4 CL E G H25839613489Congenital disorder of glycosylation type 2J613489C3150736OMIM126218620606976
HP:0001276HP:0001276Hypertonia0COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM118325302612837
HP:0001276HP:0001276Hypertonia0CP CL E G H135648818ORPHA16552295117700
HP:0001276HP:0001276Hypertonia0CRLF1 CL E G H92441545Corsello Opitz syndromeORPHA1802364604237
HP:0001276HP:0001276Hypertonia0CYB5R3 CL E G H1727250800Deficiency of cytochrome-b5 reductase250800C0268193OMIM11512873613213
HP:0001276HP:0001276Hypertonia0DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM15822698248610
HP:0001276HP:0001276Hypertonia0DCX CL E G H16412148ORPHA13882714300121
HP:0001276HP:0001276Hypertonia0DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM16482860602858
HP:0001276HP:0001276Hypertonia0DKC1 CL E G H17363322ORPHA14772890300126
HP:0001276HP:0001276Hypertonia0DMPK CL E G H1760273ORPHA12352933605377
HP:0001276HP:0001276Hypertonia0DNAJC12 CL E G H56521617384Hyperphenylalaninemia, mild, non-bh4-deficient617384C4479270OMIM19328908606060
HP:0001276HP:0001276Hypertonia0DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM12582995191350
HP:0001276HP:0001276Hypertonia0DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM13793012612779
HP:0001276HP:0001276Hypertonia0EBP CL E G H10682300960MEND syndrome300960C4085243OMIM12913133300205
HP:0001276HP:0001276Hypertonia0EIF2AK3 CL E G H9451226980Wolcott-Rallison dysplasia226980C0432217OMIM13593255604032
HP:0001276HP:0001276Hypertonia0EIF2S3 CL E G H196885282ORPHA11903267300161
HP:0001276HP:0001276Hypertonia0EPCAM CL E G H4072144ORPHA161311529185535
HP:0001276HP:0001276Hypertonia0ERCC1 CL E G H20671466ORPHA11133433126380
HP:0001276HP:0001276Hypertonia0ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11133433126380
HP:0001276HP:0001276Hypertonia0ERCC2 CL E G H20681466ORPHA111963434126340
HP:0001276HP:0001276Hypertonia0ERCC5 CL E G H20731466ORPHA14253437133530
HP:0001276HP:0001276Hypertonia0ERCC6 CL E G H20741466ORPHA111703438609413
HP:0001276HP:0001276Hypertonia0EYA1 CL E G H21382792Hyperbilirubinemia type 1ORPHA14343519601653
HP:0001276HP:0001276Hypertonia0EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM14163527601573
HP:0001276HP:0001276Hypertonia0FAN1 CL E G H22909144ORPHA136029170613534
HP:0001276HP:0001276Hypertonia0FKRP CL E G H79147588ORPHA178717997606596
HP:0001276HP:0001276Hypertonia0FKTN CL E G H2218588ORPHA17833622607440
HP:0001276HP:0001276Hypertonia0FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM119924678610966
HP:0001276HP:0001276Hypertonia0GALC CL E G H2581245200Galactosylceramide beta-galactosidase deficiency245200C0023521OMIM19624115606890
HP:0001276HP:0001276Hypertonia0GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM14874136601240
HP:0001276HP:0001276Hypertonia0GBA CL E G H26292072ORPHA14177606463
HP:0001276HP:0001276Hypertonia0GBA CL E G H262985212ORPHA14177606463
HP:0001276HP:0001276Hypertonia0GLRA1 CL E G H2741149400Hyperekplexia hereditary149400C1835614OMIM13814326138491
HP:0001276HP:0001276Hypertonia0GLRB CL E G H2743614619Hyperekplexia 2614619C3553291OMIM12874329138492
HP:0001276HP:0001276Hypertonia0GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM11664367613109
HP:0001276HP:0001276Hypertonia0GMPPB CL E G H29925588ORPHA127322932615320
HP:0001276HP:0001276Hypertonia0GMPPB CL E G H29925615351Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14615351C3809221OMIM127322932615320
HP:0001276HP:0001276Hypertonia0GPHN CL E G H10243149400Hyperekplexia hereditary149400C1835614OMIM198215465603930
HP:0001276HP:0001276Hypertonia0GRIN2D CL E G H2906617162Epileptic encephalopathy, early infantile, 46617162C4310687OMIM15194588602717
HP:0001276HP:0001276Hypertonia0HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA132213315300269
HP:0001276HP:0001276Hypertonia0HEXA CL E G H3073272800Tay-Sachs disease272800C0039373OMIM17704878606869
HP:0001276HP:0001276Hypertonia0HIST1H1E CL E G H3008617537RAHMAN SYNDROME617537C4479637OMIM14718142220
HP:0001276HP:0001276Hypertonia0HLCS CL E G H3141253270Holocarboxylase synthetase deficiency253270C0268581OMIM17224976609018
HP:0001276HP:0001276Hypertonia0HNRNPH2 CL E G H3188300986Mental retardation, X-linked, syndromic, Bain type300986C4310814OMIM11865042300610
HP:0001276HP:0001276Hypertonia0HSPG2 CL E G H3339800ORPHA118305273142461
HP:0001276HP:0001276Hypertonia0HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM116214348606441
HP:0001276HP:0001276Hypertonia0ITM2B CL E G H9445176500Dementia familial British176500C1867773OMIM11146174603904
HP:0001276HP:0001276Hypertonia0KCNQ2 CL E G H3785306ORPHA116896296602235
HP:0001276HP:0001276Hypertonia0KCNQ2 CL E G H37851949Benign familial neonatal seizuresCN200689ORPHA116896296602235
HP:0001276HP:0001276Hypertonia0KCNQ3 CL E G H3786306ORPHA110826297602232
HP:0001276HP:0001276Hypertonia0KCNQ3 CL E G H37861949Benign familial neonatal seizuresCN200689ORPHA110826297602232
HP:0001276HP:0001276Hypertonia0KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA113177132159555
HP:0001276HP:0001276Hypertonia0KRAS CL E G H3845144ORPHA14406407190070
HP:0001276HP:0001276Hypertonia0KYNU CL E G H894279155ORPHA1626469605197
HP:0001276HP:0001276Hypertonia0KYNU CL E G H8942236800Hydroxykynureninuria236800C0268474OMIM1626469605197
HP:0001276HP:0001276Hypertonia0LARGE1 CL E G H9215588ORPHA16586511603590
HP:0001276HP:0001276Hypertonia0MBOAT7 CL E G H79143617188Mental retardation, autosomal recessive 57617188C4310673OMIM17115505606048
HP:0001276HP:0001276Hypertonia0MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM1106316877608507
HP:0001276HP:0001276Hypertonia0MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11237045602616
HP:0001276HP:0001276Hypertonia0MIPEP CL E G H4285617228Combined oxidative phosphorylation deficiency 31617228C4310661OMIM11857104602241
HP:0001276HP:0001276Hypertonia0MLH1 CL E G H4292144ORPHA148267127120436
HP:0001276HP:0001276Hypertonia0MLH3 CL E G H27030144ORPHA118247128604395
HP:0001276HP:0001276Hypertonia0MSH2 CL E G H4436144ORPHA163747325609309
HP:0001276HP:0001276Hypertonia0MSH6 CL E G H2956144ORPHA177067329600678
HP:0001276HP:0001276Hypertonia0MYO5A CL E G H464479476ORPHA12497602160777
HP:0001276HP:0001276Hypertonia0NAA10 CL E G H8260300855N-terminal acetyltransferase deficiency300855C3275447OMIM136118704300013
HP:0001276HP:0001276Hypertonia0NECAP1 CL E G H25977615833Early infantile epileptic encephalopathy 21615833C4014430OMIM116724539611623
HP:0001276HP:0001276Hypertonia0NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA1120128862608667
HP:0001276HP:0001276Hypertonia0NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1120128862608667
HP:0001276HP:0001276Hypertonia0OGDH CL E G H496731Serpiginous choroiditisORPHA11058124613022
HP:0001276HP:0001276Hypertonia0PAH CL E G H505379254ORPHA113168582612349
HP:0001276HP:0001276Hypertonia0PARN CL E G H50733322ORPHA14438609604212
HP:0001276HP:0001276Hypertonia0PAX1 CL E G H50752792Hyperbilirubinemia type 1ORPHA12088615167411
HP:0001276HP:0001276Hypertonia0PCBD1 CL E G H5092264070Hyperphenylalaninemia, BH4-deficient, D264070C1849700OMIM1678646126090
HP:0001276HP:0001276Hypertonia0PIK3CA CL E G H5290144ORPHA19758975171834
HP:0001276HP:0001276Hypertonia0PITX3 CL E G H5309610623Cataract 11610623C1864567OMIM1399006602669
HP:0001276HP:0001276Hypertonia0PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM15989039603604
HP:0001276HP:0001276Hypertonia0PLAA CL E G H9373617527NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES617527C4479631OMIM13389043603873
HP:0001276HP:0001276Hypertonia0PLK4 CL E G H107332518ORPHA140711397605031
HP:0001276HP:0001276Hypertonia0PLPBP CL E G H11212617290Epilepsy, early-onset, vitamin b6-dependent617290C4310632OMIM1909457604436
HP:0001276HP:0001276Hypertonia0PMS1 CL E G H5378144ORPHA1969121600258
HP:0001276HP:0001276Hypertonia0PMS2 CL E G H5395144ORPHA143469122600259
HP:0001276HP:0001276Hypertonia0PNPO CL E G H5516379096ORPHA128130260603287
HP:0001276HP:0001276Hypertonia0PNPO CL E G H55163610090Pyridoxal 5'-phosphate-dependent epilepsy610090C1864723OMIM128130260603287
HP:0001276HP:0001276Hypertonia0POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM119179179174763
HP:0001276HP:0001276Hypertonia0POMGNT1 CL E G H55624588ORPHA194319139606822
HP:0001276HP:0001276Hypertonia0POMT1 CL E G H10585588ORPHA17379202607423
HP:0001276HP:0001276Hypertonia0POMT2 CL E G H29954588ORPHA176619743607439
HP:0001276HP:0001276Hypertonia0PRF1 CL E G H5551603553Hemophagocytic lymphohistiocytosis, familial, 2603553C1863727OMIM14049360170280
HP:0001276HP:0001276Hypertonia0PRRT2 CL E G H112476306ORPHA170230500614386
HP:0001276HP:0001276Hypertonia0PSAP CL E G H5660611722Krabbe disease atypical due to Saposin A deficiency611722C2673266OMIM15989498176801
HP:0001276HP:0001276Hypertonia0PSAT1 CL E G H29968610992Phosphoserine aminotransferase deficiency610992C1970253OMIM144319129610936
HP:0001276HP:0001276Hypertonia0PSEN1 CL E G H56631020ORPHA14529508104311
HP:0001276HP:0001276Hypertonia0PSEN2 CL E G H56641020ORPHA12379509600759
HP:0001276HP:0001276Hypertonia0PSPH CL E G H5723614023Deficiency of phosphoserine phosphatase614023C1291463OMIM11609577172480
HP:0001276HP:0001276Hypertonia0PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12149689612719
HP:0001276HP:0001276Hypertonia0QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM12599752612676
HP:0001276HP:0001276Hypertonia0RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA12939811606462
HP:0001276HP:0001276Hypertonia0RTEL1 CL E G H517503322ORPHA1200515888608833
HP:0001276HP:0001276Hypertonia0SCN2A CL E G H6326306ORPHA1191410588182390
HP:0001276HP:0001276Hypertonia0SCN4A CL E G H632999734ORPHA1139110591603967
HP:0001276HP:0001276Hypertonia0SCN4A CL E G H632999735ORPHA1139110591603967
HP:0001276HP:0001276Hypertonia0SCN4A CL E G H632999736ORPHA1139110591603967
HP:0001276HP:0001276Hypertonia0SCN8A CL E G H6334306ORPHA1149410596600702
HP:0001276HP:0001276Hypertonia0SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA161725566615743
HP:0001276HP:0001276Hypertonia0SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM148216266606152
HP:0001276HP:0001276Hypertonia0SLC6A19 CL E G H340024234500Neutral 1 amino acid transport defect234500C0018609OMIM137127960608893
HP:0001276HP:0001276Hypertonia0SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM147911049126455
HP:0001276HP:0001276Hypertonia0SLC6A5 CL E G H9152614618Hyperekplexia 3614618C3553288OMIM153211051604159
HP:0001276HP:0001276Hypertonia0SLC6A8 CL E G H653552503ORPHA190311055300036
HP:0001276HP:0001276Hypertonia0SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM116811056601019
HP:0001276HP:0001276Hypertonia0SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA179811111300040
HP:0001276HP:0001276Hypertonia0SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA13582468606062
HP:0001276HP:0001276Hypertonia0SORL1 CL E G H66531020ORPHA132011185602005
HP:0001276HP:0001276Hypertonia0SOX10 CL E G H6663611584Waardenburg syndrome type 2E611584C2700405OMIM130211190602229
HP:0001276HP:0001276Hypertonia0SUOX CL E G H6821272300Sulfite oxidase deficiency272300C0268624OMIM127511460606887
HP:0001276HP:0001276Hypertonia0TERT CL E G H70153322ORPHA1244911730187270
HP:0001276HP:0001276Hypertonia0TGFBR2 CL E G H7048144ORPHA184211773190182
HP:0001276HP:0001276Hypertonia0TINF2 CL E G H262773322ORPHA133011824604319
HP:0001276HP:0001276Hypertonia0TINF2 CL E G H26277268130Revesz syndrome268130C1327916OMIM133011824604319
HP:0001276HP:0001276Hypertonia0TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM18722407613413
HP:0001276HP:0001276Hypertonia0TOMM40 CL E G H104521020ORPHA11418001608061
HP:0001276HP:0001276Hypertonia0TOR1A CL E G H1861128100Dystonia 1128100C1851945OMIM11723098605204
HP:0001276HP:0001276Hypertonia0TOR1A CL E G H1861256Schrander-Stumpel Theunissen Hulsmans syndromeORPHA11723098605204
HP:0001276HP:0001276Hypertonia0TRAF7 CL E G H84231618164CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY618164OMIM110120456606692
HP:0001276HP:0001276Hypertonia0TREM2 CL E G H542091020ORPHA111017761605086
HP:0001276HP:0001276Hypertonia0TUBGCP4 CL E G H272292518ORPHA135416691609610
HP:0001276HP:0001276Hypertonia0TUBGCP6 CL E G H853782518ORPHA1154118127610053
HP:0001276HP:0001276Hypertonia0VAC14 CL E G H55697617054Striatonigral degeneration, childhood-onset617054C4310743OMIM122025507604632
HP:0001276HP:0001276Hypertonia0VPS37A CL E G H137492614898Spastic paraplegia 53, autosomal recessive614898C3539494OMIM119824928609927
HP:0001276HP:0001276Hypertonia0ZSWIM6 CL E G H57688617865NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES617865CN800196OMIM146629316615951
HP:0001276HP:0002509Limb hypertonia1ABCA7 CL E G H103471020ORPHA114837605414
HP:0001276HP:0031867Neck hypertonia1ABCA7 CL E G H103471020ORPHA114837605414
HP:0001276HP:0002063Rigidity1ABCA7 CL E G H103471020ORPHA114837605414
HP:0001276HP:0001257Spasticity1ABCA7 CL E G H103471020ORPHA114837605414
HP:0001276HP:0002509Limb hypertonia1ACD CL E G H650573322ORPHA183425070609377
HP:0001276HP:0031867Neck hypertonia1ACD CL E G H650573322ORPHA183425070609377
HP:0001276HP:0002063Rigidity1ACD CL E G H650573322ORPHA183425070609377
HP:0001276HP:0001257Spasticity1ACD CL E G H650573322ORPHA183425070609377
HP:0001276HP:0002509Limb hypertonia1ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1517119609751
HP:0001276HP:0031867Neck hypertonia1ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1517119609751
HP:0001276HP:0002063Rigidity1ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1517119609751
HP:0001276HP:0001257Spasticity1ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1517119609751
HP:0001276HP:0002509Limb hypertonia1AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1385315604581
HP:0001276HP:0031867Neck hypertonia1AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1385315604581
HP:0001276HP:0002063Rigidity1AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1385315604581
HP:0001276HP:0001257Spasticity1AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1385315604581
HP:0001276HP:0002509Limb hypertonia1ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM117923056608750
HP:0001276HP:0031867Neck hypertonia1ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM117923056608750
HP:0001276HP:0002063Rigidity1ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM117923056608750
HP:0001276HP:0001257Spasticity1ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM117923056608750
HP:0001276HP:0002509Limb hypertonia1APP CL E G H3511020ORPHA1404620104760
HP:0001276HP:0031867Neck hypertonia1APP CL E G H3511020ORPHA1404620104760
HP:0001276HP:0002063Rigidity1APP CL E G H3511020ORPHA1404620104760
HP:0001276HP:0001257Spasticity1APP CL E G H3511020ORPHA1404620104760
HP:0001276HP:0002509Limb hypertonia1ARHGEF9 CL E G H23229300607Early infantile epileptic encephalopathy 8300607C1845102OMIM143914561300429
HP:0001276HP:0031867Neck hypertonia1ARHGEF9 CL E G H23229300607Early infantile epileptic encephalopathy 8300607C1845102OMIM143914561300429
HP:0001276HP:0002063Rigidity1ARHGEF9 CL E G H23229300607Early infantile epileptic encephalopathy 8300607C1845102OMIM143914561300429
HP:0001276HP:0001257Spasticity1ARHGEF9 CL E G H23229300607Early infantile epileptic encephalopathy 8300607C1845102OMIM143914561300429
HP:0001276HP:0002509Limb hypertonia1ARV1 CL E G H64801617020Epileptic encephalopathy, early infantile, 38617020C4310762OMIM17129561611647
HP:0001276HP:0031867Neck hypertonia1ARV1 CL E G H64801617020Epileptic encephalopathy, early infantile, 38617020C4310762OMIM17129561611647
HP:0001276HP:0002063Rigidity1ARV1 CL E G H64801617020Epileptic encephalopathy, early infantile, 38617020C4310762OMIM17129561611647
HP:0001276HP:0001257Spasticity1ARV1 CL E G H64801617020Epileptic encephalopathy, early infantile, 38617020C4310762OMIM17129561611647
HP:0001276HP:0002509Limb hypertonia1ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM167918060300382
HP:0001276HP:0031867Neck hypertonia1ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM167918060300382
HP:0001276HP:0002063Rigidity1ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM167918060300382
HP:0001276HP:0001257Spasticity1ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM167918060300382
HP:0001276HP:0002509Limb hypertonia1ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM111625903614452
HP:0001276HP:0031867Neck hypertonia1ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM111625903614452
HP:0001276HP:0002063Rigidity1ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM111625903614452
HP:0001276HP:0001257Spasticity1ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM111625903614452
HP:0001276HP:0002509Limb hypertonia1ATP7A CL E G H538309400Menkes kinky-hair syndrome309400C0022716OMIM11283869300011
HP:0001276HP:0031867Neck hypertonia1ATP7A CL E G H538309400Menkes kinky-hair syndrome309400C0022716OMIM11283869300011
HP:0001276HP:0002063Rigidity1ATP7A CL E G H538309400Menkes kinky-hair syndrome309400C0022716OMIM11283869300011
HP:0001276HP:0001257Spasticity1ATP7A CL E G H538309400Menkes kinky-hair syndrome309400C0022716OMIM11283869300011
HP:0001276HP:0002509Limb hypertonia1B3GALNT2 CL E G H148789588ORPHA146228596610194
HP:0001276HP:0031867Neck hypertonia1B3GALNT2 CL E G H148789588ORPHA146228596610194
HP:0001276HP:0002063Rigidity1B3GALNT2 CL E G H148789588ORPHA146228596610194
HP:0001276HP:0001257Spasticity1B3GALNT2 CL E G H148789588ORPHA146228596610194
HP:0001276HP:0002509Limb hypertonia1BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1495986608348
HP:0001276HP:0031867Neck hypertonia1BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1495986608348
HP:0001276HP:0002063Rigidity1BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1495986608348
HP:0001276HP:0001257Spasticity1BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1495986608348
HP:0001276HP:0002509Limb hypertonia1BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1547987248611
HP:0001276HP:0031867Neck hypertonia1BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1547987248611
HP:0001276HP:0002063Rigidity1BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1547987248611
HP:0001276HP:0001257Spasticity1BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1547987248611
HP:0001276HP:0002509Limb hypertonia1BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM19481097164757
HP:0001276HP:0031867Neck hypertonia1BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM19481097164757
HP:0001276HP:0002063Rigidity1BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM19481097164757
HP:0001276HP:0001257Spasticity1BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM19481097164757
HP:0001276HP:0002509Limb hypertonia1BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM196021701614506
HP:0001276HP:0031867Neck hypertonia1BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM196021701614506
HP:0001276HP:0002063Rigidity1BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM196021701614506
HP:0001276HP:0001257Spasticity1BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM196021701614506
HP:0001276HP:0002509Limb hypertonia1BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM196021701614506
HP:0001276HP:0031867Neck hypertonia1BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM196021701614506
HP:0001276HP:0002063Rigidity1BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM196021701614506
HP:0001276HP:0001257Spasticity1BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM196021701614506
HP:0001276HP:0002509Limb hypertonia1CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM126891388601011
HP:0001276HP:0031867Neck hypertonia1CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM126891388601011
HP:0001276HP:0002063Rigidity1CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM126891388601011
HP:0001276HP:0001257Spasticity1CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM126891388601011
HP:0001276HP:0002509Limb hypertonia1CLCF1 CL E G H235291545Corsello Opitz syndromeORPHA13317412607672
HP:0001276HP:0031867Neck hypertonia1CLCF1 CL E G H235291545Corsello Opitz syndromeORPHA13317412607672
HP:0001276HP:0002063Rigidity1CLCF1 CL E G H235291545Corsello Opitz syndromeORPHA13317412607672
HP:0001276HP:0001257Spasticity1CLCF1 CL E G H235291545Corsello Opitz syndromeORPHA13317412607672
HP:0001276HP:0002509Limb hypertonia1COG4 CL E G H25839613489Congenital disorder of glycosylation type 2J613489C3150736OMIM126218620606976
HP:0001276HP:0031867Neck hypertonia1COG4 CL E G H25839613489Congenital disorder of glycosylation type 2J613489C3150736OMIM126218620606976
HP:0001276HP:0002063Rigidity1COG4 CL E G H25839613489Congenital disorder of glycosylation type 2J613489C3150736OMIM126218620606976
HP:0001276HP:0001257Spasticity1COG4 CL E G H25839613489Congenital disorder of glycosylation type 2J613489C3150736OMIM126218620606976
HP:0001276HP:0002509Limb hypertonia1COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM118325302612837
HP:0001276HP:0031867Neck hypertonia1COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM118325302612837
HP:0001276HP:0002063Rigidity1COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM118325302612837
HP:0001276HP:0001257Spasticity1COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM118325302612837
HP:0001276HP:0002509Limb hypertonia1CP CL E G H135648818ORPHA16552295117700
HP:0001276HP:0031867Neck hypertonia1CP CL E G H135648818ORPHA16552295117700
HP:0001276HP:0002063Rigidity1CP CL E G H135648818ORPHA16552295117700
HP:0001276HP:0001257Spasticity1CP CL E G H135648818ORPHA16552295117700
HP:0001276HP:0002509Limb hypertonia1CRLF1 CL E G H92441545Corsello Opitz syndromeORPHA1802364604237
HP:0001276HP:0031867Neck hypertonia1CRLF1 CL E G H92441545Corsello Opitz syndromeORPHA1802364604237
HP:0001276HP:0002063Rigidity1CRLF1 CL E G H92441545Corsello Opitz syndromeORPHA1802364604237
HP:0001276HP:0001257Spasticity1CRLF1 CL E G H92441545Corsello Opitz syndromeORPHA1802364604237
HP:0001276HP:0002509Limb hypertonia1CYB5R3 CL E G H1727250800Deficiency of cytochrome-b5 reductase250800C0268193OMIM11512873613213
HP:0001276HP:0031867Neck hypertonia1CYB5R3 CL E G H1727250800Deficiency of cytochrome-b5 reductase250800C0268193OMIM11512873613213
HP:0001276HP:0002063Rigidity1CYB5R3 CL E G H1727250800Deficiency of cytochrome-b5 reductase250800C0268193OMIM11512873613213
HP:0001276HP:0001257Spasticity1CYB5R3 CL E G H1727250800Deficiency of cytochrome-b5 reductase250800C0268193OMIM11512873613213
HP:0001276HP:0002509Limb hypertonia1DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM15822698248610
HP:0001276HP:0031867Neck hypertonia1DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM15822698248610
HP:0001276HP:0002063Rigidity1DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM15822698248610
HP:0001276HP:0001257Spasticity1DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM15822698248610
HP:0001276HP:0002509Limb hypertonia1DCX CL E G H16412148ORPHA13882714300121
HP:0001276HP:0031867Neck hypertonia1DCX CL E G H16412148ORPHA13882714300121
HP:0001276HP:0002063Rigidity1DCX CL E G H16412148ORPHA13882714300121
HP:0001276HP:0001257Spasticity1DCX CL E G H16412148ORPHA13882714300121
HP:0001276HP:0002509Limb hypertonia1DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM16482860602858
HP:0001276HP:0031867Neck hypertonia1DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM16482860602858
HP:0001276HP:0002063Rigidity1DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM16482860602858
HP:0001276HP:0001257Spasticity1DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM16482860602858
HP:0001276HP:0002509Limb hypertonia1DKC1 CL E G H17363322ORPHA14772890300126
HP:0001276HP:0031867Neck hypertonia1DKC1 CL E G H17363322ORPHA14772890300126
HP:0001276HP:0002063Rigidity1DKC1 CL E G H17363322ORPHA14772890300126
HP:0001276HP:0001257Spasticity1DKC1 CL E G H17363322ORPHA14772890300126
HP:0001276HP:0002509Limb hypertonia1DMPK CL E G H1760273ORPHA12352933605377
HP:0001276HP:0031867Neck hypertonia1DMPK CL E G H1760273ORPHA12352933605377
HP:0001276HP:0002063Rigidity1DMPK CL E G H1760273ORPHA12352933605377
HP:0001276HP:0001257Spasticity1DMPK CL E G H1760273ORPHA12352933605377
HP:0001276HP:0002509Limb hypertonia1DNAJC12 CL E G H56521617384Hyperphenylalaninemia, mild, non-bh4-deficient617384C4479270OMIM19328908606060
HP:0001276HP:0031867Neck hypertonia1DNAJC12 CL E G H56521617384Hyperphenylalaninemia, mild, non-bh4-deficient617384C4479270OMIM19328908606060
HP:0001276HP:0002063Rigidity1DNAJC12 CL E G H56521617384Hyperphenylalaninemia, mild, non-bh4-deficient617384C4479270OMIM19328908606060
HP:0001276HP:0001257Spasticity1DNAJC12 CL E G H56521617384Hyperphenylalaninemia, mild, non-bh4-deficient617384C4479270OMIM19328908606060
HP:0001276HP:0002509Limb hypertonia1DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM12582995191350
HP:0001276HP:0031867Neck hypertonia1DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM12582995191350
HP:0001276HP:0002063Rigidity1DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM12582995191350
HP:0001276HP:0001257Spasticity1DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM12582995191350
HP:0001276HP:0002509Limb hypertonia1DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM13793012612779
HP:0001276HP:0031867Neck hypertonia1DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM13793012612779
HP:0001276HP:0002063Rigidity1DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM13793012612779
HP:0001276HP:0001257Spasticity1DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM13793012612779
HP:0001276HP:0002509Limb hypertonia1EBP CL E G H10682300960MEND syndrome300960C4085243OMIM12913133300205
HP:0001276HP:0031867Neck hypertonia1EBP CL E G H10682300960MEND syndrome300960C4085243OMIM12913133300205
HP:0001276HP:0002063Rigidity1EBP CL E G H10682300960MEND syndrome300960C4085243OMIM12913133300205
HP:0001276HP:0001257Spasticity1EBP CL E G H10682300960MEND syndrome300960C4085243OMIM12913133300205
HP:0001276HP:0002509Limb hypertonia1EIF2AK3 CL E G H9451226980Wolcott-Rallison dysplasia226980C0432217OMIM13593255604032
HP:0001276HP:0031867Neck hypertonia1EIF2AK3 CL E G H9451226980Wolcott-Rallison dysplasia226980C0432217OMIM13593255604032
HP:0001276HP:0002063Rigidity1EIF2AK3 CL E G H9451226980Wolcott-Rallison dysplasia226980C0432217OMIM13593255604032
HP:0001276HP:0001257Spasticity1EIF2AK3 CL E G H9451226980Wolcott-Rallison dysplasia226980C0432217OMIM13593255604032
HP:0001276HP:0002509Limb hypertonia1EIF2S3 CL E G H196885282ORPHA11903267300161
HP:0001276HP:0031867Neck hypertonia1EIF2S3 CL E G H196885282ORPHA11903267300161
HP:0001276HP:0002063Rigidity1EIF2S3 CL E G H196885282ORPHA11903267300161
HP:0001276HP:0001257Spasticity1EIF2S3 CL E G H196885282ORPHA11903267300161
HP:0001276HP:0002509Limb hypertonia1EPCAM CL E G H4072144ORPHA161311529185535
HP:0001276HP:0031867Neck hypertonia1EPCAM CL E G H4072144ORPHA161311529185535
HP:0001276HP:0002063Rigidity1EPCAM CL E G H4072144ORPHA161311529185535
HP:0001276HP:0001257Spasticity1EPCAM CL E G H4072144ORPHA161311529185535
HP:0001276HP:0002509Limb hypertonia1ERCC1 CL E G H20671466ORPHA11133433126380
HP:0001276HP:0031867Neck hypertonia1ERCC1 CL E G H20671466ORPHA11133433126380
HP:0001276HP:0002063Rigidity1ERCC1 CL E G H20671466ORPHA11133433126380
HP:0001276HP:0001257Spasticity1ERCC1 CL E G H20671466ORPHA11133433126380
HP:0001276HP:0002509Limb hypertonia1ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11133433126380
HP:0001276HP:0031867Neck hypertonia1ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11133433126380
HP:0001276HP:0002063Rigidity1ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11133433126380
HP:0001276HP:0001257Spasticity1ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11133433126380
HP:0001276HP:0002509Limb hypertonia1ERCC2 CL E G H20681466ORPHA111963434126340
HP:0001276HP:0031867Neck hypertonia1ERCC2 CL E G H20681466ORPHA111963434126340
HP:0001276HP:0002063Rigidity1ERCC2 CL E G H20681466ORPHA111963434126340
HP:0001276HP:0001257Spasticity1ERCC2 CL E G H20681466ORPHA111963434126340
HP:0001276HP:0002509Limb hypertonia1ERCC5 CL E G H20731466ORPHA14253437133530
HP:0001276HP:0031867Neck hypertonia1ERCC5 CL E G H20731466ORPHA14253437133530
HP:0001276HP:0002063Rigidity1ERCC5 CL E G H20731466ORPHA14253437133530
HP:0001276HP:0001257Spasticity1ERCC5 CL E G H20731466ORPHA14253437133530
HP:0001276HP:0002509Limb hypertonia1ERCC6 CL E G H20741466ORPHA111703438609413
HP:0001276HP:0031867Neck hypertonia1ERCC6 CL E G H20741466ORPHA111703438609413
HP:0001276HP:0002063Rigidity1ERCC6 CL E G H20741466ORPHA111703438609413
HP:0001276HP:0001257Spasticity1ERCC6 CL E G H20741466ORPHA111703438609413
HP:0001276HP:0002509Limb hypertonia1EYA1 CL E G H21382792Hyperbilirubinemia type 1ORPHA14343519601653
HP:0001276HP:0031867Neck hypertonia1EYA1 CL E G H21382792Hyperbilirubinemia type 1ORPHA14343519601653
HP:0001276HP:0002063Rigidity1EYA1 CL E G H21382792Hyperbilirubinemia type 1ORPHA14343519601653
HP:0001276HP:0001257Spasticity1EYA1 CL E G H21382792Hyperbilirubinemia type 1ORPHA14343519601653
HP:0001276HP:0002509Limb hypertonia1EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM14163527601573
HP:0001276HP:0031867Neck hypertonia1EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM14163527601573
HP:0001276HP:0002063Rigidity1EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM14163527601573
HP:0001276HP:0001257Spasticity1EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM14163527601573
HP:0001276HP:0002509Limb hypertonia1FAN1 CL E G H22909144ORPHA136029170613534
HP:0001276HP:0031867Neck hypertonia1FAN1 CL E G H22909144ORPHA136029170613534
HP:0001276HP:0002063Rigidity1FAN1 CL E G H22909144ORPHA136029170613534
HP:0001276HP:0001257Spasticity1FAN1 CL E G H22909144ORPHA136029170613534
HP:0001276HP:0002509Limb hypertonia1FKRP CL E G H79147588ORPHA178717997606596
HP:0001276HP:0031867Neck hypertonia1FKRP CL E G H79147588ORPHA178717997606596
HP:0001276HP:0002063Rigidity1FKRP CL E G H79147588ORPHA178717997606596
HP:0001276HP:0001257Spasticity1FKRP CL E G H79147588ORPHA178717997606596
HP:0001276HP:0002509Limb hypertonia1FKTN CL E G H2218588ORPHA17833622607440
HP:0001276HP:0031867Neck hypertonia1FKTN CL E G H2218588ORPHA17833622607440
HP:0001276HP:0002063Rigidity1FKTN CL E G H2218588ORPHA17833622607440
HP:0001276HP:0001257Spasticity1FKTN CL E G H2218588ORPHA17833622607440
HP:0001276HP:0002509Limb hypertonia1FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM119924678610966
HP:0001276HP:0031867Neck hypertonia1FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM119924678610966
HP:0001276HP:0002063Rigidity1FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM119924678610966
HP:0001276HP:0001257Spasticity1FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM119924678610966
HP:0001276HP:0002509Limb hypertonia1GALC CL E G H2581245200Galactosylceramide beta-galactosidase deficiency245200C0023521OMIM19624115606890
HP:0001276HP:0031867Neck hypertonia1GALC CL E G H2581245200Galactosylceramide beta-galactosidase deficiency245200C0023521OMIM19624115606890
HP:0001276HP:0002063Rigidity1GALC CL E G H2581245200Galactosylceramide beta-galactosidase deficiency245200C0023521OMIM19624115606890
HP:0001276HP:0001257Spasticity1GALC CL E G H2581245200Galactosylceramide beta-galactosidase deficiency245200C0023521OMIM19624115606890
HP:0001276HP:0002509Limb hypertonia1GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM14874136601240
HP:0001276HP:0031867Neck hypertonia1GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM14874136601240
HP:0001276HP:0002063Rigidity1GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM14874136601240
HP:0001276HP:0001257Spasticity1GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM14874136601240
HP:0001276HP:0002509Limb hypertonia1GBA CL E G H26292072ORPHA14177606463
HP:0001276HP:0031867Neck hypertonia1GBA CL E G H26292072ORPHA14177606463
HP:0001276HP:0002063Rigidity1GBA CL E G H26292072ORPHA14177606463
HP:0001276HP:0001257Spasticity1GBA CL E G H26292072ORPHA14177606463
HP:0001276HP:0002509Limb hypertonia1GBA CL E G H262985212ORPHA14177606463
HP:0001276HP:0031867Neck hypertonia1GBA CL E G H262985212ORPHA14177606463
HP:0001276HP:0002063Rigidity1GBA CL E G H262985212ORPHA14177606463
HP:0001276HP:0001257Spasticity1GBA CL E G H262985212ORPHA14177606463
HP:0001276HP:0002509Limb hypertonia1GLRA1 CL E G H2741149400Hyperekplexia hereditary149400C1835614OMIM13814326138491
HP:0001276HP:0031867Neck hypertonia1GLRA1 CL E G H2741149400Hyperekplexia hereditary149400C1835614OMIM13814326138491
HP:0001276HP:0002063Rigidity1GLRA1 CL E G H2741149400Hyperekplexia hereditary149400C1835614OMIM13814326138491
HP:0001276HP:0001257Spasticity1GLRA1 CL E G H2741149400Hyperekplexia hereditary149400C1835614OMIM13814326138491
HP:0001276HP:0002509Limb hypertonia1GLRB CL E G H2743614619Hyperekplexia 2614619C3553291OMIM12874329138492
HP:0001276HP:0031867Neck hypertonia1GLRB CL E G H2743614619Hyperekplexia 2614619C3553291OMIM12874329138492
HP:0001276HP:0002063Rigidity1GLRB CL E G H2743614619Hyperekplexia 2614619C3553291OMIM12874329138492
HP:0001276HP:0001257Spasticity1GLRB CL E G H2743614619Hyperekplexia 2614619C3553291OMIM12874329138492
HP:0001276HP:0002509Limb hypertonia1GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM11664367613109
HP:0001276HP:0031867Neck hypertonia1GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM11664367613109
HP:0001276HP:0002063Rigidity1GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM11664367613109
HP:0001276HP:0001257Spasticity1GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM11664367613109
HP:0001276HP:0002509Limb hypertonia1GMPPB CL E G H29925588ORPHA127322932615320
HP:0001276HP:0031867Neck hypertonia1GMPPB CL E G H29925588ORPHA127322932615320
HP:0001276HP:0002063Rigidity1GMPPB CL E G H29925588ORPHA127322932615320
HP:0001276HP:0001257Spasticity1GMPPB CL E G H29925588ORPHA127322932615320
HP:0001276HP:0002509Limb hypertonia1GMPPB CL E G H29925615351Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14615351C3809221OMIM127322932615320
HP:0001276HP:0031867Neck hypertonia1GMPPB CL E G H29925615351Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14615351C3809221OMIM127322932615320
HP:0001276HP:0002063Rigidity1GMPPB CL E G H29925615351Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14615351C3809221OMIM127322932615320
HP:0001276HP:0001257Spasticity1GMPPB CL E G H29925615351Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14615351C3809221OMIM127322932615320
HP:0001276HP:0002509Limb hypertonia1GPHN CL E G H10243149400Hyperekplexia hereditary149400C1835614OMIM198215465603930
HP:0001276HP:0031867Neck hypertonia1GPHN CL E G H10243149400Hyperekplexia hereditary149400C1835614OMIM198215465603930
HP:0001276HP:0002063Rigidity1GPHN CL E G H10243149400Hyperekplexia hereditary149400C1835614OMIM198215465603930
HP:0001276HP:0001257Spasticity1GPHN CL E G H10243149400Hyperekplexia hereditary149400C1835614OMIM198215465603930
HP:0001276HP:0002509Limb hypertonia1GRIN2D CL E G H2906617162Epileptic encephalopathy, early infantile, 46617162C4310687OMIM15194588602717
HP:0001276HP:0031867Neck hypertonia1GRIN2D CL E G H2906617162Epileptic encephalopathy, early infantile, 46617162C4310687OMIM15194588602717
HP:0001276HP:0002063Rigidity1GRIN2D CL E G H2906617162Epileptic encephalopathy, early infantile, 46617162C4310687OMIM15194588602717
HP:0001276HP:0001257Spasticity1GRIN2D CL E G H2906617162Epileptic encephalopathy, early infantile, 46617162C4310687OMIM15194588602717
HP:0001276HP:0002509Limb hypertonia1HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA132213315300269
HP:0001276HP:0031867Neck hypertonia1HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA132213315300269
HP:0001276HP:0002063Rigidity1HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA132213315300269
HP:0001276HP:0001257Spasticity1HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA132213315300269
HP:0001276HP:0002509Limb hypertonia1HEXA CL E G H3073272800Tay-Sachs disease272800C0039373OMIM17704878606869
HP:0001276HP:0031867Neck hypertonia1HEXA CL E G H3073272800Tay-Sachs disease272800C0039373OMIM17704878606869
HP:0001276HP:0002063Rigidity1HEXA CL E G H3073272800Tay-Sachs disease272800C0039373OMIM17704878606869
HP:0001276HP:0001257Spasticity1HEXA CL E G H3073272800Tay-Sachs disease272800C0039373OMIM17704878606869
HP:0001276HP:0002509Limb hypertonia1HIST1H1E CL E G H3008617537RAHMAN SYNDROME617537C4479637OMIM14718142220
HP:0001276HP:0031867Neck hypertonia1HIST1H1E CL E G H3008617537RAHMAN SYNDROME617537C4479637OMIM14718142220
HP:0001276HP:0002063Rigidity1HIST1H1E CL E G H3008617537RAHMAN SYNDROME617537C4479637OMIM14718142220
HP:0001276HP:0001257Spasticity1HIST1H1E CL E G H3008617537RAHMAN SYNDROME617537C4479637OMIM14718142220
HP:0001276HP:0002509Limb hypertonia1HLCS CL E G H3141253270Holocarboxylase synthetase deficiency253270C0268581OMIM17224976609018
HP:0001276HP:0031867Neck hypertonia1HLCS CL E G H3141253270Holocarboxylase synthetase deficiency253270C0268581OMIM17224976609018
HP:0001276HP:0002063Rigidity1HLCS CL E G H3141253270Holocarboxylase synthetase deficiency253270C0268581OMIM17224976609018
HP:0001276HP:0001257Spasticity1HLCS CL E G H3141253270Holocarboxylase synthetase deficiency253270C0268581OMIM17224976609018
HP:0001276HP:0002509Limb hypertonia1HNRNPH2 CL E G H3188300986Mental retardation, X-linked, syndromic, Bain type300986C4310814OMIM11865042300610
HP:0001276HP:0031867Neck hypertonia1HNRNPH2 CL E G H3188300986Mental retardation, X-linked, syndromic, Bain type300986C4310814OMIM11865042300610
HP:0001276HP:0002063Rigidity1HNRNPH2 CL E G H3188300986Mental retardation, X-linked, syndromic, Bain type300986C4310814OMIM11865042300610
HP:0001276HP:0001257Spasticity1HNRNPH2 CL E G H3188300986Mental retardation, X-linked, syndromic, Bain type300986C4310814OMIM11865042300610
HP:0001276HP:0002509Limb hypertonia1HSPG2 CL E G H3339800ORPHA118305273142461
HP:0001276HP:0031867Neck hypertonia1HSPG2 CL E G H3339800ORPHA118305273142461
HP:0001276HP:0002063Rigidity1HSPG2 CL E G H3339800ORPHA118305273142461
HP:0001276HP:0001257Spasticity1HSPG2 CL E G H3339800ORPHA118305273142461
HP:0001276HP:0002509Limb hypertonia1HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM116214348606441
HP:0001276HP:0031867Neck hypertonia1HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM116214348606441
HP:0001276HP:0002063Rigidity1HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM116214348606441
HP:0001276HP:0001257Spasticity1HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM116214348606441
HP:0001276HP:0002509Limb hypertonia1ITM2B CL E G H9445176500Dementia familial British176500C1867773OMIM11146174603904
HP:0001276HP:0031867Neck hypertonia1ITM2B CL E G H9445176500Dementia familial British176500C1867773OMIM11146174603904
HP:0001276HP:0002063Rigidity1ITM2B CL E G H9445176500Dementia familial British176500C1867773OMIM11146174603904
HP:0001276HP:0001257Spasticity1ITM2B CL E G H9445176500Dementia familial British176500C1867773OMIM11146174603904
HP:0001276HP:0002509Limb hypertonia1KCNQ2 CL E G H3785306ORPHA116896296602235
HP:0001276HP:0031867Neck hypertonia1KCNQ2 CL E G H3785306ORPHA116896296602235
HP:0001276HP:0002063Rigidity1KCNQ2 CL E G H3785306ORPHA116896296602235
HP:0001276HP:0001257Spasticity1KCNQ2 CL E G H3785306ORPHA116896296602235
HP:0001276HP:0002509Limb hypertonia1KCNQ2 CL E G H37851949Benign familial neonatal seizuresCN200689ORPHA116896296602235
HP:0001276HP:0031867Neck hypertonia1KCNQ2 CL E G H37851949Benign familial neonatal seizuresCN200689ORPHA116896296602235
HP:0001276HP:0002063Rigidity1KCNQ2 CL E G H37851949Benign familial neonatal seizuresCN200689ORPHA116896296602235
HP:0001276HP:0001257Spasticity1KCNQ2 CL E G H37851949Benign familial neonatal seizuresCN200689ORPHA116896296602235
HP:0001276HP:0002509Limb hypertonia1KCNQ3 CL E G H3786306ORPHA110826297602232
HP:0001276HP:0031867Neck hypertonia1KCNQ3 CL E G H3786306ORPHA110826297602232
HP:0001276HP:0002063Rigidity1KCNQ3 CL E G H3786306ORPHA110826297602232
HP:0001276HP:0001257Spasticity1KCNQ3 CL E G H3786306ORPHA110826297602232
HP:0001276HP:0002509Limb hypertonia1KCNQ3 CL E G H37861949Benign familial neonatal seizuresCN200689ORPHA110826297602232
HP:0001276HP:0031867Neck hypertonia1KCNQ3 CL E G H37861949Benign familial neonatal seizuresCN200689ORPHA110826297602232
HP:0001276HP:0002063Rigidity1KCNQ3 CL E G H37861949Benign familial neonatal seizuresCN200689ORPHA110826297602232
HP:0001276HP:0001257Spasticity1KCNQ3 CL E G H37861949Benign familial neonatal seizuresCN200689ORPHA110826297602232
HP:0001276HP:0002509Limb hypertonia1KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA113177132159555
HP:0001276HP:0031867Neck hypertonia1KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA113177132159555
HP:0001276HP:0002063Rigidity1KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA113177132159555
HP:0001276HP:0001257Spasticity1KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA113177132159555
HP:0001276HP:0002509Limb hypertonia1KRAS CL E G H3845144ORPHA14406407190070
HP:0001276HP:0031867Neck hypertonia1KRAS CL E G H3845144ORPHA14406407190070
HP:0001276HP:0002063Rigidity1KRAS CL E G H3845144ORPHA14406407190070
HP:0001276HP:0001257Spasticity1KRAS CL E G H3845144ORPHA14406407190070
HP:0001276HP:0002509Limb hypertonia1KYNU CL E G H894279155ORPHA1626469605197
HP:0001276HP:0031867Neck hypertonia1KYNU CL E G H894279155ORPHA1626469605197
HP:0001276HP:0002063Rigidity1KYNU CL E G H894279155ORPHA1626469605197
HP:0001276HP:0001257Spasticity1KYNU CL E G H894279155ORPHA1626469605197
HP:0001276HP:0002509Limb hypertonia1KYNU CL E G H8942236800Hydroxykynureninuria236800C0268474OMIM1626469605197
HP:0001276HP:0031867Neck hypertonia1KYNU CL E G H8942236800Hydroxykynureninuria236800C0268474OMIM1626469605197
HP:0001276HP:0002063Rigidity1KYNU CL E G H8942236800Hydroxykynureninuria236800C0268474OMIM1626469605197
HP:0001276HP:0001257Spasticity1KYNU CL E G H8942236800Hydroxykynureninuria236800C0268474OMIM1626469605197
HP:0001276HP:0002509Limb hypertonia1LARGE1 CL E G H9215588ORPHA16586511603590
HP:0001276HP:0031867Neck hypertonia1LARGE1 CL E G H9215588ORPHA16586511603590
HP:0001276HP:0002063Rigidity1LARGE1 CL E G H9215588ORPHA16586511603590
HP:0001276HP:0001257Spasticity1LARGE1 CL E G H9215588ORPHA16586511603590
HP:0001276HP:0002509Limb hypertonia1MBOAT7 CL E G H79143617188Mental retardation, autosomal recessive 57617188C4310673OMIM17115505606048
HP:0001276HP:0031867Neck hypertonia1MBOAT7 CL E G H79143617188Mental retardation, autosomal recessive 57617188C4310673OMIM17115505606048
HP:0001276HP:0002063Rigidity1MBOAT7 CL E G H79143617188Mental retardation, autosomal recessive 57617188C4310673OMIM17115505606048
HP:0001276HP:0001257Spasticity1MBOAT7 CL E G H79143617188Mental retardation, autosomal recessive 57617188C4310673OMIM17115505606048
HP:0001276HP:0002509Limb hypertonia1MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM1106316877608507
HP:0001276HP:0031867Neck hypertonia1MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM1106316877608507
HP:0001276HP:0002063Rigidity1MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM1106316877608507
HP:0001276HP:0001257Spasticity1MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM1106316877608507
HP:0001276HP:0002509Limb hypertonia1MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11237045602616
HP:0001276HP:0031867Neck hypertonia1MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11237045602616
HP:0001276HP:0002063Rigidity1MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11237045602616
HP:0001276HP:0001257Spasticity1MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11237045602616
HP:0001276HP:0002509Limb hypertonia1MIPEP CL E G H4285617228Combined oxidative phosphorylation deficiency 31617228C4310661OMIM11857104602241
HP:0001276HP:0031867Neck hypertonia1MIPEP CL E G H4285617228Combined oxidative phosphorylation deficiency 31617228C4310661OMIM11857104602241
HP:0001276HP:0002063Rigidity1MIPEP CL E G H4285617228Combined oxidative phosphorylation deficiency 31617228C4310661OMIM11857104602241
HP:0001276HP:0001257Spasticity1MIPEP CL E G H4285617228Combined oxidative phosphorylation deficiency 31617228C4310661OMIM11857104602241
HP:0001276HP:0002509Limb hypertonia1MLH1 CL E G H4292144ORPHA148267127120436
HP:0001276HP:0031867Neck hypertonia1MLH1 CL E G H4292144ORPHA148267127120436
HP:0001276HP:0002063Rigidity1MLH1 CL E G H4292144ORPHA148267127120436
HP:0001276HP:0001257Spasticity1MLH1 CL E G H4292144ORPHA148267127120436
HP:0001276HP:0002509Limb hypertonia1MLH3 CL E G H27030144ORPHA118247128604395
HP:0001276HP:0031867Neck hypertonia1MLH3 CL E G H27030144ORPHA118247128604395
HP:0001276HP:0002063Rigidity1MLH3 CL E G H27030144ORPHA118247128604395
HP:0001276HP:0001257Spasticity1MLH3 CL E G H27030144ORPHA118247128604395
HP:0001276HP:0002509Limb hypertonia1MSH2 CL E G H4436144ORPHA163747325609309
HP:0001276HP:0031867Neck hypertonia1MSH2 CL E G H4436144ORPHA163747325609309
HP:0001276HP:0002063Rigidity1MSH2 CL E G H4436144ORPHA163747325609309
HP:0001276HP:0001257Spasticity1MSH2 CL E G H4436144ORPHA163747325609309
HP:0001276HP:0002509Limb hypertonia1MSH6 CL E G H2956144ORPHA177067329600678
HP:0001276HP:0031867Neck hypertonia1MSH6 CL E G H2956144ORPHA177067329600678
HP:0001276HP:0002063Rigidity1MSH6 CL E G H2956144ORPHA177067329600678
HP:0001276HP:0001257Spasticity1MSH6 CL E G H2956144ORPHA177067329600678
HP:0001276HP:0002509Limb hypertonia1MYO5A CL E G H464479476ORPHA12497602160777
HP:0001276HP:0031867Neck hypertonia1MYO5A CL E G H464479476ORPHA12497602160777
HP:0001276HP:0002063Rigidity1MYO5A CL E G H464479476ORPHA12497602160777
HP:0001276HP:0001257Spasticity1MYO5A CL E G H464479476ORPHA12497602160777
HP:0001276HP:0002509Limb hypertonia1NAA10 CL E G H8260300855N-terminal acetyltransferase deficiency300855C3275447OMIM136118704300013
HP:0001276HP:0031867Neck hypertonia1NAA10 CL E G H8260300855N-terminal acetyltransferase deficiency300855C3275447OMIM136118704300013
HP:0001276HP:0002063Rigidity1NAA10 CL E G H8260300855N-terminal acetyltransferase deficiency300855C3275447OMIM136118704300013
HP:0001276HP:0001257Spasticity1NAA10 CL E G H8260300855N-terminal acetyltransferase deficiency300855C3275447OMIM136118704300013
HP:0001276HP:0002509Limb hypertonia1NECAP1 CL E G H25977615833Early infantile epileptic encephalopathy 21615833C4014430OMIM116724539611623
HP:0001276HP:0031867Neck hypertonia1NECAP1 CL E G H25977615833Early infantile epileptic encephalopathy 21615833C4014430OMIM116724539611623
HP:0001276HP:0002063Rigidity1NECAP1 CL E G H25977615833Early infantile epileptic encephalopathy 21615833C4014430OMIM116724539611623
HP:0001276HP:0001257Spasticity1NECAP1 CL E G H25977615833Early infantile epileptic encephalopathy 21615833C4014430OMIM116724539611623
HP:0001276HP:0002509Limb hypertonia1NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA1120128862608667
HP:0001276HP:0031867Neck hypertonia1NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA1120128862608667
HP:0001276HP:0002063Rigidity1NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA1120128862608667
HP:0001276HP:0001257Spasticity1NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA1120128862608667
HP:0001276HP:0002509Limb hypertonia1NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1120128862608667
HP:0001276HP:0031867Neck hypertonia1NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1120128862608667
HP:0001276HP:0002063Rigidity1NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1120128862608667
HP:0001276HP:0001257Spasticity1NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1120128862608667
HP:0001276HP:0002509Limb hypertonia1OGDH CL E G H496731Serpiginous choroiditisORPHA11058124613022
HP:0001276HP:0031867Neck hypertonia1OGDH CL E G H496731Serpiginous choroiditisORPHA11058124613022
HP:0001276HP:0002063Rigidity1OGDH CL E G H496731Serpiginous choroiditisORPHA11058124613022
HP:0001276HP:0001257Spasticity1OGDH CL E G H496731Serpiginous choroiditisORPHA11058124613022
HP:0001276HP:0002509Limb hypertonia1PAH CL E G H505379254ORPHA113168582612349
HP:0001276HP:0031867Neck hypertonia1PAH CL E G H505379254ORPHA113168582612349
HP:0001276HP:0002063Rigidity1PAH CL E G H505379254ORPHA113168582612349
HP:0001276HP:0001257Spasticity1PAH CL E G H505379254ORPHA113168582612349
HP:0001276HP:0002509Limb hypertonia1PARN CL E G H50733322ORPHA14438609604212
HP:0001276HP:0031867Neck hypertonia1PARN CL E G H50733322ORPHA14438609604212
HP:0001276HP:0002063Rigidity1PARN CL E G H50733322ORPHA14438609604212
HP:0001276HP:0001257Spasticity1PARN CL E G H50733322ORPHA14438609604212
HP:0001276HP:0002509Limb hypertonia1PAX1 CL E G H50752792Hyperbilirubinemia type 1ORPHA12088615167411
HP:0001276HP:0031867Neck hypertonia1PAX1 CL E G H50752792Hyperbilirubinemia type 1ORPHA12088615167411
HP:0001276HP:0002063Rigidity1PAX1 CL E G H50752792Hyperbilirubinemia type 1ORPHA12088615167411
HP:0001276HP:0001257Spasticity1PAX1 CL E G H50752792Hyperbilirubinemia type 1ORPHA12088615167411
HP:0001276HP:0002509Limb hypertonia1PCBD1 CL E G H5092264070Hyperphenylalaninemia, BH4-deficient, D264070C1849700OMIM1678646126090
HP:0001276HP:0031867Neck hypertonia1PCBD1 CL E G H5092264070Hyperphenylalaninemia, BH4-deficient, D264070C1849700OMIM1678646126090
HP:0001276HP:0002063Rigidity1PCBD1 CL E G H5092264070Hyperphenylalaninemia, BH4-deficient, D264070C1849700OMIM1678646126090
HP:0001276HP:0001257Spasticity1PCBD1 CL E G H5092264070Hyperphenylalaninemia, BH4-deficient, D264070C1849700OMIM1678646126090
HP:0001276HP:0002509Limb hypertonia1PIK3CA CL E G H5290144ORPHA19758975171834
HP:0001276HP:0031867Neck hypertonia1PIK3CA CL E G H5290144ORPHA19758975171834
HP:0001276HP:0002063Rigidity1PIK3CA CL E G H5290144ORPHA19758975171834
HP:0001276HP:0001257Spasticity1PIK3CA CL E G H5290144ORPHA19758975171834
HP:0001276HP:0002509Limb hypertonia1PITX3 CL E G H5309610623Cataract 11610623C1864567OMIM1399006602669
HP:0001276HP:0031867Neck hypertonia1PITX3 CL E G H5309610623Cataract 11610623C1864567OMIM1399006602669
HP:0001276HP:0002063Rigidity1PITX3 CL E G H5309610623Cataract 11610623C1864567OMIM1399006602669
HP:0001276HP:0001257Spasticity1PITX3 CL E G H5309610623Cataract 11610623C1864567OMIM1399006602669
HP:0001276HP:0002509Limb hypertonia1PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM15989039603604
HP:0001276HP:0031867Neck hypertonia1PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM15989039603604
HP:0001276HP:0002063Rigidity1PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM15989039603604
HP:0001276HP:0001257Spasticity1PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM15989039603604
HP:0001276HP:0002509Limb hypertonia1PLAA CL E G H9373617527NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES617527C4479631OMIM13389043603873
HP:0001276HP:0031867Neck hypertonia1PLAA CL E G H9373617527NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES617527C4479631OMIM13389043603873
HP:0001276HP:0002063Rigidity1PLAA CL E G H9373617527NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES617527C4479631OMIM13389043603873
HP:0001276HP:0001257Spasticity1PLAA CL E G H9373617527NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES617527C4479631OMIM13389043603873
HP:0001276HP:0002509Limb hypertonia1PLK4 CL E G H107332518ORPHA140711397605031
HP:0001276HP:0031867Neck hypertonia1PLK4 CL E G H107332518ORPHA140711397605031
HP:0001276HP:0002063Rigidity1PLK4 CL E G H107332518ORPHA140711397605031
HP:0001276HP:0001257Spasticity1PLK4 CL E G H107332518ORPHA140711397605031
HP:0001276HP:0002509Limb hypertonia1PLPBP CL E G H11212617290Epilepsy, early-onset, vitamin b6-dependent617290C4310632OMIM1909457604436
HP:0001276HP:0031867Neck hypertonia1PLPBP CL E G H11212617290Epilepsy, early-onset, vitamin b6-dependent617290C4310632OMIM1909457604436
HP:0001276HP:0002063Rigidity1PLPBP CL E G H11212617290Epilepsy, early-onset, vitamin b6-dependent617290C4310632OMIM1909457604436
HP:0001276HP:0001257Spasticity1PLPBP CL E G H11212617290Epilepsy, early-onset, vitamin b6-dependent617290C4310632OMIM1909457604436
HP:0001276HP:0002509Limb hypertonia1PMS1 CL E G H5378144ORPHA1969121600258
HP:0001276HP:0031867Neck hypertonia1PMS1 CL E G H5378144ORPHA1969121600258
HP:0001276HP:0002063Rigidity1PMS1 CL E G H5378144ORPHA1969121600258
HP:0001276HP:0001257Spasticity1PMS1 CL E G H5378144ORPHA1969121600258
HP:0001276HP:0002509Limb hypertonia1PMS2 CL E G H5395144ORPHA143469122600259
HP:0001276HP:0031867Neck hypertonia1PMS2 CL E G H5395144ORPHA143469122600259
HP:0001276HP:0002063Rigidity1PMS2 CL E G H5395144ORPHA143469122600259
HP:0001276HP:0001257Spasticity1PMS2 CL E G H5395144ORPHA143469122600259
HP:0001276HP:0002509Limb hypertonia1PNPO CL E G H5516379096ORPHA128130260603287
HP:0001276HP:0031867Neck hypertonia1PNPO CL E G H5516379096ORPHA128130260603287
HP:0001276HP:0002063Rigidity1PNPO CL E G H5516379096ORPHA128130260603287
HP:0001276HP:0001257Spasticity1PNPO CL E G H5516379096ORPHA128130260603287
HP:0001276HP:0002509Limb hypertonia1PNPO CL E G H55163610090Pyridoxal 5'-phosphate-dependent epilepsy610090C1864723OMIM128130260603287
HP:0001276HP:0031867Neck hypertonia1PNPO CL E G H55163610090Pyridoxal 5'-phosphate-dependent epilepsy610090C1864723OMIM128130260603287
HP:0001276HP:0002063Rigidity1PNPO CL E G H55163610090Pyridoxal 5'-phosphate-dependent epilepsy610090C1864723OMIM128130260603287
HP:0001276HP:0001257Spasticity1PNPO CL E G H55163610090Pyridoxal 5'-phosphate-dependent epilepsy610090C1864723OMIM128130260603287
HP:0001276HP:0002509Limb hypertonia1POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM119179179174763
HP:0001276HP:0031867Neck hypertonia1POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM119179179174763
HP:0001276HP:0002063Rigidity1POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM119179179174763
HP:0001276HP:0001257Spasticity1POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM119179179174763
HP:0001276HP:0002509Limb hypertonia1POMGNT1 CL E G H55624588ORPHA194319139606822
HP:0001276HP:0031867Neck hypertonia1POMGNT1 CL E G H55624588ORPHA194319139606822
HP:0001276HP:0002063Rigidity1POMGNT1 CL E G H55624588ORPHA194319139606822
HP:0001276HP:0001257Spasticity1POMGNT1 CL E G H55624588ORPHA194319139606822
HP:0001276HP:0002509Limb hypertonia1POMT1 CL E G H10585588ORPHA17379202607423
HP:0001276HP:0031867Neck hypertonia1POMT1 CL E G H10585588ORPHA17379202607423
HP:0001276HP:0002063Rigidity1POMT1 CL E G H10585588ORPHA17379202607423
HP:0001276HP:0001257Spasticity1POMT1 CL E G H10585588ORPHA17379202607423
HP:0001276HP:0002509Limb hypertonia1POMT2 CL E G H29954588ORPHA176619743607439
HP:0001276HP:0031867Neck hypertonia1POMT2 CL E G H29954588ORPHA176619743607439
HP:0001276HP:0002063Rigidity1POMT2 CL E G H29954588ORPHA176619743607439
HP:0001276HP:0001257Spasticity1POMT2 CL E G H29954588ORPHA176619743607439
HP:0001276HP:0002509Limb hypertonia1PRF1 CL E G H5551603553Hemophagocytic lymphohistiocytosis, familial, 2603553C1863727OMIM14049360170280
HP:0001276HP:0031867Neck hypertonia1PRF1 CL E G H5551603553Hemophagocytic lymphohistiocytosis, familial, 2603553C1863727OMIM14049360170280
HP:0001276HP:0002063Rigidity1PRF1 CL E G H5551603553Hemophagocytic lymphohistiocytosis, familial, 2603553C1863727OMIM14049360170280
HP:0001276HP:0001257Spasticity1PRF1 CL E G H5551603553Hemophagocytic lymphohistiocytosis, familial, 2603553C1863727OMIM14049360170280
HP:0001276HP:0002509Limb hypertonia1PRRT2 CL E G H112476306ORPHA170230500614386
HP:0001276HP:0031867Neck hypertonia1PRRT2 CL E G H112476306ORPHA170230500614386
HP:0001276HP:0002063Rigidity1PRRT2 CL E G H112476306ORPHA170230500614386
HP:0001276HP:0001257Spasticity1PRRT2 CL E G H112476306ORPHA170230500614386
HP:0001276HP:0002509Limb hypertonia1PSAP CL E G H5660611722Krabbe disease atypical due to Saposin A deficiency611722C2673266OMIM15989498176801
HP:0001276HP:0031867Neck hypertonia1PSAP CL E G H5660611722Krabbe disease atypical due to Saposin A deficiency611722C2673266OMIM15989498176801
HP:0001276HP:0002063Rigidity1PSAP CL E G H5660611722Krabbe disease atypical due to Saposin A deficiency611722C2673266OMIM15989498176801
HP:0001276HP:0001257Spasticity1PSAP CL E G H5660611722Krabbe disease atypical due to Saposin A deficiency611722C2673266OMIM15989498176801
HP:0001276HP:0002509Limb hypertonia1PSAT1 CL E G H29968610992Phosphoserine aminotransferase deficiency610992C1970253OMIM144319129610936
HP:0001276HP:0031867Neck hypertonia1PSAT1 CL E G H29968610992Phosphoserine aminotransferase deficiency610992C1970253OMIM144319129610936
HP:0001276HP:0002063Rigidity1PSAT1 CL E G H29968610992Phosphoserine aminotransferase deficiency610992C1970253OMIM144319129610936
HP:0001276HP:0001257Spasticity1PSAT1 CL E G H29968610992Phosphoserine aminotransferase deficiency610992C1970253OMIM144319129610936
HP:0001276HP:0002509Limb hypertonia1PSEN1 CL E G H56631020ORPHA14529508104311
HP:0001276HP:0031867Neck hypertonia1PSEN1 CL E G H56631020ORPHA14529508104311
HP:0001276HP:0002063Rigidity1PSEN1 CL E G H56631020ORPHA14529508104311
HP:0001276HP:0001257Spasticity1PSEN1 CL E G H56631020ORPHA14529508104311
HP:0001276HP:0002509Limb hypertonia1PSEN2 CL E G H56641020ORPHA12379509600759
HP:0001276HP:0031867Neck hypertonia1PSEN2 CL E G H56641020ORPHA12379509600759
HP:0001276HP:0002063Rigidity1PSEN2 CL E G H56641020ORPHA12379509600759
HP:0001276HP:0001257Spasticity1PSEN2 CL E G H56641020ORPHA12379509600759
HP:0001276HP:0002509Limb hypertonia1PSPH CL E G H5723614023Deficiency of phosphoserine phosphatase614023C1291463OMIM11609577172480
HP:0001276HP:0031867Neck hypertonia1PSPH CL E G H5723614023Deficiency of phosphoserine phosphatase614023C1291463OMIM11609577172480
HP:0001276HP:0002063Rigidity1PSPH CL E G H5723614023Deficiency of phosphoserine phosphatase614023C1291463OMIM11609577172480
HP:0001276HP:0001257Spasticity1PSPH CL E G H5723614023Deficiency of phosphoserine phosphatase614023C1291463OMIM11609577172480
HP:0001276HP:0002509Limb hypertonia1PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12149689612719
HP:0001276HP:0031867Neck hypertonia1PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12149689612719
HP:0001276HP:0002063Rigidity1PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12149689612719
HP:0001276HP:0001257Spasticity1PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12149689612719
HP:0001276HP:0002509Limb hypertonia1QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM12599752612676
HP:0001276HP:0031867Neck hypertonia1QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM12599752612676
HP:0001276HP:0002063Rigidity1QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM12599752612676
HP:0001276HP:0001257Spasticity1QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM12599752612676
HP:0001276HP:0002509Limb hypertonia1RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA12939811606462
HP:0001276HP:0031867Neck hypertonia1RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA12939811606462
HP:0001276HP:0002063Rigidity1RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA12939811606462
HP:0001276HP:0001257Spasticity1RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA12939811606462
HP:0001276HP:0002509Limb hypertonia1RTEL1 CL E G H517503322ORPHA1200515888608833
HP:0001276HP:0031867Neck hypertonia1RTEL1 CL E G H517503322ORPHA1200515888608833
HP:0001276HP:0002063Rigidity1RTEL1 CL E G H517503322ORPHA1200515888608833
HP:0001276HP:0001257Spasticity1RTEL1 CL E G H517503322ORPHA1200515888608833
HP:0001276HP:0002509Limb hypertonia1SCN2A CL E G H6326306ORPHA1191410588182390
HP:0001276HP:0031867Neck hypertonia1SCN2A CL E G H6326306ORPHA1191410588182390
HP:0001276HP:0002063Rigidity1SCN2A CL E G H6326306ORPHA1191410588182390
HP:0001276HP:0001257Spasticity1SCN2A CL E G H6326306ORPHA1191410588182390
HP:0001276HP:0002509Limb hypertonia1SCN4A CL E G H632999734ORPHA1139110591603967
HP:0001276HP:0031867Neck hypertonia1SCN4A CL E G H632999734ORPHA1139110591603967
HP:0001276HP:0002063Rigidity1SCN4A CL E G H632999734ORPHA1139110591603967
HP:0001276HP:0001257Spasticity1SCN4A CL E G H632999734ORPHA1139110591603967
HP:0001276HP:0002509Limb hypertonia1SCN4A CL E G H632999735ORPHA1139110591603967
HP:0001276HP:0031867Neck hypertonia1SCN4A CL E G H632999735ORPHA1139110591603967
HP:0001276HP:0002063Rigidity1SCN4A CL E G H632999735ORPHA1139110591603967
HP:0001276HP:0001257Spasticity1SCN4A CL E G H632999735ORPHA1139110591603967
HP:0001276HP:0002509Limb hypertonia1SCN4A CL E G H632999736ORPHA1139110591603967
HP:0001276HP:0031867Neck hypertonia1SCN4A CL E G H632999736ORPHA1139110591603967
HP:0001276HP:0002063Rigidity1SCN4A CL E G H632999736ORPHA1139110591603967
HP:0001276HP:0001257Spasticity1SCN4A CL E G H632999736ORPHA1139110591603967
HP:0001276HP:0002509Limb hypertonia1SCN8A CL E G H6334306ORPHA1149410596600702
HP:0001276HP:0031867Neck hypertonia1SCN8A CL E G H6334306ORPHA1149410596600702
HP:0001276HP:0002063Rigidity1SCN8A CL E G H6334306ORPHA1149410596600702
HP:0001276HP:0001257Spasticity1SCN8A CL E G H6334306ORPHA1149410596600702
HP:0001276HP:0002509Limb hypertonia1SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA161725566615743
HP:0001276HP:0031867Neck hypertonia1SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA161725566615743
HP:0001276HP:0002063Rigidity1SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA161725566615743
HP:0001276HP:0001257Spasticity1SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA161725566615743
HP:0001276HP:0002509Limb hypertonia1SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM148216266606152
HP:0001276HP:0031867Neck hypertonia1SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM148216266606152
HP:0001276HP:0002063Rigidity1SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM148216266606152
HP:0001276HP:0001257Spasticity1SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM148216266606152
HP:0001276HP:0002509Limb hypertonia1SLC6A19 CL E G H340024234500Neutral 1 amino acid transport defect234500C0018609OMIM137127960608893
HP:0001276HP:0031867Neck hypertonia1SLC6A19 CL E G H340024234500Neutral 1 amino acid transport defect234500C0018609OMIM137127960608893
HP:0001276HP:0002063Rigidity1SLC6A19 CL E G H340024234500Neutral 1 amino acid transport defect234500C0018609OMIM137127960608893
HP:0001276HP:0001257Spasticity1SLC6A19 CL E G H340024234500Neutral 1 amino acid transport defect234500C0018609OMIM137127960608893
HP:0001276HP:0002509Limb hypertonia1SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM147911049126455
HP:0001276HP:0031867Neck hypertonia1SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM147911049126455
HP:0001276HP:0002063Rigidity1SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM147911049126455
HP:0001276HP:0001257Spasticity1SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM147911049126455
HP:0001276HP:0002509Limb hypertonia1SLC6A5 CL E G H9152614618Hyperekplexia 3614618C3553288OMIM153211051604159
HP:0001276HP:0031867Neck hypertonia1SLC6A5 CL E G H9152614618Hyperekplexia 3614618C3553288OMIM153211051604159
HP:0001276HP:0002063Rigidity1SLC6A5 CL E G H9152614618Hyperekplexia 3614618C3553288OMIM153211051604159
HP:0001276HP:0001257Spasticity1SLC6A5 CL E G H9152614618Hyperekplexia 3614618C3553288OMIM153211051604159
HP:0001276HP:0002509Limb hypertonia1SLC6A8 CL E G H653552503ORPHA190311055300036
HP:0001276HP:0031867Neck hypertonia1SLC6A8 CL E G H653552503ORPHA190311055300036
HP:0001276HP:0002063Rigidity1SLC6A8 CL E G H653552503ORPHA190311055300036
HP:0001276HP:0001257Spasticity1SLC6A8 CL E G H653552503ORPHA190311055300036
HP:0001276HP:0002509Limb hypertonia1SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM116811056601019
HP:0001276HP:0031867Neck hypertonia1SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM116811056601019
HP:0001276HP:0002063Rigidity1SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM116811056601019
HP:0001276HP:0001257Spasticity1SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM116811056601019
HP:0001276HP:0002509Limb hypertonia1SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA179811111300040
HP:0001276HP:0031867Neck hypertonia1SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA179811111300040
HP:0001276HP:0002063Rigidity1SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA179811111300040
HP:0001276HP:0001257Spasticity1SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA179811111300040
HP:0001276HP:0002509Limb hypertonia1SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA13582468606062
HP:0001276HP:0031867Neck hypertonia1SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA13582468606062
HP:0001276HP:0002063Rigidity1SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA13582468606062
HP:0001276HP:0001257Spasticity1SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA13582468606062
HP:0001276HP:0002509Limb hypertonia1SORL1 CL E G H66531020ORPHA132011185602005
HP:0001276HP:0031867Neck hypertonia1SORL1 CL E G H66531020ORPHA132011185602005
HP:0001276HP:0002063Rigidity1SORL1 CL E G H66531020ORPHA132011185602005
HP:0001276HP:0001257Spasticity1SORL1 CL E G H66531020ORPHA132011185602005
HP:0001276HP:0002509Limb hypertonia1SOX10 CL E G H6663611584Waardenburg syndrome type 2E611584C2700405OMIM130211190602229
HP:0001276HP:0031867Neck hypertonia1SOX10 CL E G H6663611584Waardenburg syndrome type 2E611584C2700405OMIM130211190602229
HP:0001276HP:0002063Rigidity1SOX10 CL E G H6663611584Waardenburg syndrome type 2E611584C2700405OMIM130211190602229
HP:0001276HP:0001257Spasticity1SOX10 CL E G H6663611584Waardenburg syndrome type 2E611584C2700405OMIM130211190602229
HP:0001276HP:0002509Limb hypertonia1SUOX CL E G H6821272300Sulfite oxidase deficiency272300C0268624OMIM127511460606887
HP:0001276HP:0031867Neck hypertonia1SUOX CL E G H6821272300Sulfite oxidase deficiency272300C0268624OMIM127511460606887
HP:0001276HP:0002063Rigidity1SUOX CL E G H6821272300Sulfite oxidase deficiency272300C0268624OMIM127511460606887
HP:0001276HP:0001257Spasticity1SUOX CL E G H6821272300Sulfite oxidase deficiency272300C0268624OMIM127511460606887
HP:0001276HP:0002509Limb hypertonia1TERT CL E G H70153322ORPHA1244911730187270
HP:0001276HP:0031867Neck hypertonia1TERT CL E G H70153322ORPHA1244911730187270
HP:0001276HP:0002063Rigidity1TERT CL E G H70153322ORPHA1244911730187270
HP:0001276HP:0001257Spasticity1TERT CL E G H70153322ORPHA1244911730187270
HP:0001276HP:0002509Limb hypertonia1TGFBR2 CL E G H7048144ORPHA184211773190182
HP:0001276HP:0031867Neck hypertonia1TGFBR2 CL E G H7048144ORPHA184211773190182
HP:0001276HP:0002063Rigidity1TGFBR2 CL E G H7048144ORPHA184211773190182
HP:0001276HP:0001257Spasticity1TGFBR2 CL E G H7048144ORPHA184211773190182
HP:0001276HP:0002509Limb hypertonia1TINF2 CL E G H262773322ORPHA133011824604319
HP:0001276HP:0031867Neck hypertonia1TINF2 CL E G H262773322ORPHA133011824604319
HP:0001276HP:0002063Rigidity1TINF2 CL E G H262773322ORPHA133011824604319
HP:0001276HP:0001257Spasticity1TINF2 CL E G H262773322ORPHA133011824604319
HP:0001276HP:0002509Limb hypertonia1TINF2 CL E G H26277268130Revesz syndrome268130C1327916OMIM133011824604319
HP:0001276HP:0031867Neck hypertonia1TINF2 CL E G H26277268130Revesz syndrome268130C1327916OMIM133011824604319
HP:0001276HP:0002063Rigidity1TINF2 CL E G H26277268130Revesz syndrome268130C1327916OMIM133011824604319
HP:0001276HP:0001257Spasticity1TINF2 CL E G H26277268130Revesz syndrome268130C1327916OMIM133011824604319
HP:0001276HP:0002509Limb hypertonia1TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM18722407613413
HP:0001276HP:0031867Neck hypertonia1TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM18722407613413
HP:0001276HP:0002063Rigidity1TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM18722407613413
HP:0001276HP:0001257Spasticity1TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM18722407613413
HP:0001276HP:0002509Limb hypertonia1TOMM40 CL E G H104521020ORPHA11418001608061
HP:0001276HP:0031867Neck hypertonia1TOMM40 CL E G H104521020ORPHA11418001608061
HP:0001276HP:0002063Rigidity1TOMM40 CL E G H104521020ORPHA11418001608061
HP:0001276HP:0001257Spasticity1TOMM40 CL E G H104521020ORPHA11418001608061
HP:0001276HP:0002509Limb hypertonia1TOR1A CL E G H1861128100Dystonia 1128100C1851945OMIM11723098605204
HP:0001276HP:0031867Neck hypertonia1TOR1A<