Human Phenotype Ontology 
Grandparent Node:
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Abnormal muscle tone (HP:0003808)help
Grandparent Node:
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Upper motor neuron dysfunction (HP:0002493)help
Parent Node:
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Hypertonia (HP:0001276)help
..Starting node
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Spasticity (HP:0001257)help
Term ID: 1257
Name: Spasticity
Synonym: Involuntary muscle stiffness, contraction, or spasm; Muscle spasticity; Muscular spasticity
Definition: A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
Comments:
Reference: HP:0001257
Genes and Diseases:
 
       Child Nodes:
........expandSpastic diplegia (HP:0001264) help
........expandSpastic tetraparesis (HP:0001285) help
........expandLower limb spasticity (HP:0002061) help
................... HP:0001258 Spastic paraplegia
................... HP:0002313 Spastic paraparesis
........expandSpastic gait (HP:0002064) help
........expandOpisthotonus (HP:0002179) help
........expandProgressive spasticity (HP:0002191) help
................... HP:0002478 Progressive spastic quadriplegia
........expandSpastic dysarthria (HP:0002464) help
........expandSpasticity of facial muscles (HP:0002491) help
........expandSpasticity of pharyngeal muscles (HP:0002501) help
........expandSpastic tetraplegia (HP:0002510) help
........expandUpper limb spasticity (HP:0006986) help
........expandSpastic hemiparesis (HP:0011099) help
........expandClasp-knife sign (HP:0031866) help

 Sister Nodes: 
..expandLimb hypertonia (HP:0002509) help
..expandNeck hypertonia (HP:0031867) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001257HP:0001257Spasticity0AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0001257HP:0001257Spasticity0AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM142921022612035
HP:0001257HP:0001257Spasticity0ABCC8 CL E G H6833240800Leucine-induced hypoglycemia240800C0271714OMIM1156959600509
HP:0001257HP:0001257Spasticity0ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM143015868613599
HP:0001257HP:0001257Spasticity0ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM14916066617036
HP:0001257HP:0001257Spasticity0ADAM22 CL E G H53616617933Early infantile epileptic encephalopathy 61617933CN244550OMIM152201603709
HP:0001257HP:0001257Spasticity0AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1385315604581
HP:0001257HP:0001257Spasticity0AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1413318613228
HP:0001257HP:0001257Spasticity0ALDH18A1 CL E G H5832616586Spastic paraplegia 9b, autosomal recessive616586C4225272OMIM14379722138250
HP:0001257HP:0001257Spasticity0ALDH3A2 CL E G H224270200Sjögren-Larsson syndrome270200C0037231OMIM1538403609523
HP:0001257HP:0001257Spasticity0ALS2 CL E G H57679300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1754443606352
HP:0001257HP:0001257Spasticity0AMACR CL E G H23600614307Alpha-methylacyl-CoA racemase deficiency614307C3280428OMIM1290451604489
HP:0001257HP:0001257Spasticity0AMPD2 CL E G H271615809Pontocerebellar hypoplasia, type 9615809C4014354OMIM1276469102771
HP:0001257HP:0001257Spasticity0ANG CL E G H283803ORPHA197483105850
HP:0001257HP:0001257Spasticity0ANG CL E G H283611895Amyotrophic lateral sclerosis type 9611895C2678468OMIM197483105850
HP:0001257HP:0001257Spasticity0ANK3 CL E G H288615493Mental retardation, autosomal recessive 37615493C3809672OMIM1615494600465
HP:0001257HP:0001257Spasticity0ANXA11 CL E G H311803ORPHA1201535602572
HP:0001257HP:0001257Spasticity0AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1218560300629
HP:0001257HP:0001257Spasticity0AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1300572607245
HP:0001257HP:0001257Spasticity0AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1122575607243
HP:0001257HP:0001257Spasticity0ARF1 CL E G H375618185PERIVENTRICULAR NODULAR HETEROTOPIA 8618185OMIM162652103180
HP:0001257HP:0001257Spasticity0ARNT2 CL E G H9915615926Webb-Dattani syndrome615926C4014708OMIM111116876606036
HP:0001257HP:0001257Spasticity0ARX CL E G H1703022508ORPHA167918060300382
HP:0001257HP:0001257Spasticity0ARX CL E G H1703023175ORPHA167918060300382
HP:0001257HP:0001257Spasticity0ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM167918060300382
HP:0001257HP:0001257Spasticity0ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM167918060300382
HP:0001257HP:0001257Spasticity0ASPA CL E G H443314911ORPHA1319756608034
HP:0001257HP:0001257Spasticity0ATAD1 CL E G H848963197Lateral body wall defectORPHA111625903614452
HP:0001257HP:0001257Spasticity0ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM129225567612316
HP:0001257HP:0001257Spasticity0ATM CL E G H472100ORPHA113379795607585
HP:0001257HP:0001257Spasticity0ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM173830213610513
HP:0001257HP:0001257Spasticity0ATP6V0A2 CL E G H23545357074ORPHA148418481611716
HP:0001257HP:0001257Spasticity0ATP6V1A CL E G H523357074ORPHA1123851607027
HP:0001257HP:0001257Spasticity0ATP6V1E1 CL E G H529357074ORPHA1172857108746
HP:0001257HP:0001257Spasticity0ATP7A CL E G H538565ORPHA11283869300011
HP:0001257HP:0001257Spasticity0ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11544886300032
HP:0001257HP:0001257Spasticity0ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM18610548601556
HP:0001257HP:0001257Spasticity0ATXN2 CL E G H6311803ORPHA15310555601517
HP:0001257HP:0001257Spasticity0ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM15310555601517
HP:0001257HP:0001257Spasticity0ATXN3 CL E G H4287276238ORPHA1467106607047
HP:0001257HP:0001257Spasticity0ATXN3 CL E G H4287276241ORPHA1467106607047
HP:0001257HP:0001257Spasticity0ATXN3 CL E G H4287276244ORPHA1467106607047
HP:0001257HP:0001257Spasticity0ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM14210560607640
HP:0001257HP:0001257Spasticity0ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0001257HP:0001257Spasticity0ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM17910561603680
HP:0001257HP:0001257Spasticity0B4GAT1 CL E G H11041615287Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13615287C3809042OMIM116615685605517
HP:0001257HP:0001257Spasticity0BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1196961605681
HP:0001257HP:0001257Spasticity0BCL11B CL E G H64919618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES618092CN253429OMIM133013222606558
HP:0001257HP:0001257Spasticity0BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM13341020603647
HP:0001257HP:0001257Spasticity0BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM13341020603647
HP:0001257HP:0001257Spasticity0BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM17624415613183
HP:0001257HP:0001257Spasticity0BSCL2 CL E G H26580363400ORPHA143515832606158
HP:0001257HP:0001257Spasticity0BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM143515832606158
HP:0001257HP:0001257Spasticity0C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM127625443614297
HP:0001257HP:0001257Spasticity0C19orf12 CL E G H83636615043Spastic paraplegia 43, autosomal recessive615043C2680446OMIM127625443614297
HP:0001257HP:0001257Spasticity0C9orf72 CL E G H203228803ORPHA117328337614260
HP:0001257HP:0001257Spasticity0CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM14451394604065
HP:0001257HP:0001257Spasticity0CAMK2A CL E G H815618095MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63618095CN253430OMIM1771460114078
HP:0001257HP:0001257Spasticity0CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM17061497300172
HP:0001257HP:0001257Spasticity0CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1117629253612013
HP:0001257HP:0001257Spasticity0CCNF CL E G H899803ORPHA11181591600227
HP:0001257HP:0001257Spasticity0CDKL5 CL E G H67923095ORPHA1152711411300203
HP:0001257HP:0001257Spasticity0CFAP410 CL E G H755803ORPHA13731260603191
HP:0001257HP:0001257Spasticity0CHCHD10 CL E G H400916803ORPHA124815559615903
HP:0001257HP:0001257Spasticity0CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM11888740164010
HP:0001257HP:0001257Spasticity0CHMP2B CL E G H25978803ORPHA114124537609512
HP:0001257HP:0001257Spasticity0CIT CL E G H11113617090Microcephaly 17, primary, autosomal recessive617090C4310723OMIM13431985605629
HP:0001257HP:0001257Spasticity0CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA111026877616174
HP:0001257HP:0001257Spasticity0CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA11812586603432
HP:0001257HP:0001257Spasticity0CLP1 CL E G H10978411493ORPHA16116999608757
HP:0001257HP:0001257Spasticity0CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM16116999608757
HP:0001257HP:0001257Spasticity0CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM145330664616254
HP:0001257HP:0001257Spasticity0CLTC CL E G H1213617854MENTAL RETARDATION, AUTOSOMAL DOMINANT 56617854CN787270OMIM13902092118955
HP:0001257HP:0001257Spasticity0CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM12678011602346
HP:0001257HP:0001257Spasticity0CNTNAP2 CL E G H26047610042Pitt-Hopkins-like syndrome 1610042C2750246OMIM1163413830604569
HP:0001257HP:0001257Spasticity0COL4A1 CL E G H1282175780Porencephaly 1175780CN032791OMIM112582202120130
HP:0001257HP:0001257Spasticity0COL4A2 CL E G H1284614483Porencephaly 2614483C3280970OMIM19922203120090
HP:0001257HP:0001257Spasticity0COPB2 CL E G H9276617800MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE617800C4540488OMIM1582232606990
HP:0001257HP:0001257Spasticity0COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM12932260602125
HP:0001257HP:0001257Spasticity0COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM12512263603646
HP:0001257HP:0001257Spasticity0CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM15182433164770
HP:0001257HP:0001257Spasticity0CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1104426169613129
HP:0001257HP:0001257Spasticity0CTSD CL E G H1509610127Ceroid lipofuscinosis neuronal 10610127C1864669OMIM15272529116840
HP:0001257HP:0001257Spasticity0CYFIP2 CL E G H26999618008EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65618008CN248516OMIM141613760606323
HP:0001257HP:0001257Spasticity0CYP27A1 CL E G H1593909ORPHA17512605606530
HP:0001257HP:0001257Spasticity0CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM17512605606530
HP:0001257HP:0001257Spasticity0DAO CL E G H1610803ORPHA1492671124050
HP:0001257HP:0001257Spasticity0DARS CL E G H1615615281Hypomyelination with brainstem and spinal cord involvement and leg spasticity615281C3809008OMIM12678603084
HP:0001257HP:0001257Spasticity0DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM129425538610956
HP:0001257HP:0001257Spasticity0DCTN1 CL E G H1639803ORPHA18582711601143
HP:0001257HP:0001257Spasticity0DCX CL E G H1641300067Lissencephaly, X-linked300067C1848199OMIM13882714300121
HP:0001257HP:0001257Spasticity0DDX3X CL E G H1654457260ORPHA16022745300160
HP:0001257HP:0001257Spasticity0DENND5A CL E G H23258617281Epileptic encephalopathy, early infantile, 49617281C4310635OMIM110619344617278
HP:0001257HP:0001257Spasticity0DHCR24 CL E G H171835107ORPHA12162859606418
HP:0001257HP:0001257Spasticity0DHCR24 CL E G H1718602398Desmosterolosis602398C1865596OMIM12162859606418
HP:0001257HP:0001257Spasticity0DHDDS CL E G H79947613861Retinitis pigmentosa 59613861C3151227OMIM131820603608172
HP:0001257HP:0001257Spasticity0DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA14222898238331
HP:0001257HP:0001257Spasticity0DNAJC6 CL E G H9829615528Parkinson disease 19a, juvenile-onset615528C3809811OMIM123515469608375
HP:0001257HP:0001257Spasticity0DNMT1 CL E G H1786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant604121C1858804OMIM19952976126375
HP:0001257HP:0001257Spasticity0ECHS1 CL E G H1892616277Mitochondrial short-chain enoyl-coa hydratase 1 deficiency616277C4225391OMIM13653151602292
HP:0001257HP:0001257Spasticity0EED CL E G H87263447ORPHA1973188605984
HP:0001257HP:0001257Spasticity0EIF2B1 CL E G H1967603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11423257606686
HP:0001257HP:0001257Spasticity0EIF2B2 CL E G H8892603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11383258606454
HP:0001257HP:0001257Spasticity0EIF2B3 CL E G H8891603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11403259606273
HP:0001257HP:0001257Spasticity0EIF2B4 CL E G H8890603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11703260606687
HP:0001257HP:0001257Spasticity0EIF2B5 CL E G H8893603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM14223261603945
HP:0001257HP:0001257Spasticity0ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA17633327130160
HP:0001257HP:0001257Spasticity0EML1 CL E G H2009600348Band heterotopia600348C1838239OMIM11143330602033
HP:0001257HP:0001257Spasticity0ENTPD1 CL E G H953401810ORPHA11363363601752
HP:0001257HP:0001257Spasticity0EPHA4 CL E G H2043803ORPHA11243388602188
HP:0001257HP:0001257Spasticity0EPRS CL E G H2058617951LEUKODYSTROPHY, HYPOMYELINATING, 15617951CN244566OMIM13418138295
HP:0001257HP:0001257Spasticity0ERBB4 CL E G H2066803ORPHA13213432600543
HP:0001257HP:0001257Spasticity0ERCC2 CL E G H2068220295ORPHA111963434126340
HP:0001257HP:0001257Spasticity0ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM111963434126340
HP:0001257HP:0001257Spasticity0ERCC3 CL E G H2071220295ORPHA13683435133510
HP:0001257HP:0001257Spasticity0ERCC4 CL E G H2072220295ORPHA16023436133520
HP:0001257HP:0001257Spasticity0ERCC5 CL E G H2073220295ORPHA14253437133530
HP:0001257HP:0001257Spasticity0ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM111703438609413
HP:0001257HP:0001257Spasticity0ERLIN2 CL E G H11160209951ORPHA11591356611605
HP:0001257HP:0001257Spasticity0EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM119017944606489
HP:0001257HP:0001257Spasticity0EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM11569137606180
HP:0001257HP:0001257Spasticity0EZH2 CL E G H21463447ORPHA14163527601573
HP:0001257HP:0001257Spasticity0EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM14163527601573
HP:0001257HP:0001257Spasticity0FAR1 CL E G H84188616154Peroxisomal fatty acyl-coa reductase 1 disorder616154C4015344OMIM119726222616107
HP:0001257HP:0001257Spasticity0FBXO7 CL E G H25793171695ORPHA119113586605648
HP:0001257HP:0001257Spasticity0FGFR1 CL E G H22602396ORPHA16883688136350
HP:0001257HP:0001257Spasticity0FIG4 CL E G H9896803ORPHA174916873609390
HP:0001257HP:0001257Spasticity0FOXG1 CL E G H22903095ORPHA16143811164874
HP:0001257HP:0001257Spasticity0FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM16143811164874
HP:0001257HP:0001257Spasticity0FRMPD4 CL E G H9758300983Mental retardation, X-linked 104300983C4310817OMIM135229007300838
HP:0001257HP:0001257Spasticity0FRRS1L CL E G H23732616981Epileptic encephalopathy, early infantile, 37616981C4310770OMIM13411362604574
HP:0001257HP:0001257Spasticity0FTL CL E G H2512606159Neuroferritinopathy606159C1853578OMIM11513999134790
HP:0001257HP:0001257Spasticity0FUS CL E G H2521803ORPHA14094010137070
HP:0001257HP:0001257Spasticity0FUS CL E G H2521300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA14094010137070
HP:0001257HP:0001257Spasticity0GABBR2 CL E G H95683095ORPHA16824507607340
HP:0001257HP:0001257Spasticity0GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM14214082600232
HP:0001257HP:0001257Spasticity0GAN CL E G H8139643ORPHA16614137605379
HP:0001257HP:0001257Spasticity0GBA CL E G H262977260ORPHA14177606463
HP:0001257HP:0001257Spasticity0GBA CL E G H2629230900Acute neuronopathic Gaucher's disease230900C0268250OMIM14177606463
HP:0001257HP:0001257Spasticity0GBE1 CL E G H2632206583ORPHA16004180607839
HP:0001257HP:0001257Spasticity0GCDH CL E G H263925ORPHA16004189608801
HP:0001257HP:0001257Spasticity0GFAP CL E G H2670203450Alexander's disease203450C0270726OMIM13604235137780
HP:0001257HP:0001257Spasticity0GFM1 CL E G H85476609060Combined oxidative phosphorylation deficiency 1609060C1836797OMIM149513780606639
HP:0001257HP:0001257Spasticity0GJA1 CL E G H2697164200Oculodentodigital dysplasia164200C0812437OMIM12214274121014
HP:0001257HP:0001257Spasticity0GLE1 CL E G H2733803ORPHA13824315603371
HP:0001257HP:0001257Spasticity0GLRA1 CL E G H27413197Lateral body wall defectORPHA13814326138491
HP:0001257HP:0001257Spasticity0GLRB CL E G H27433197Lateral body wall defectORPHA12874329138492
HP:0001257HP:0001257Spasticity0GNAO1 CL E G H2775617493Neurodevelopmental disorder with involuntary movements617493C4479569OMIM13584389139311
HP:0001257HP:0001257Spasticity0GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM13534446603048
HP:0001257HP:0001257Spasticity0GPHN CL E G H102433197Lateral body wall defectORPHA198215465603930
HP:0001257HP:0001257Spasticity0GPT2 CL E G H84706616281Mental retardation, autosomal recessive 49616281C4225388OMIM18618062138210
HP:0001257HP:0001257Spasticity0GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM17354584138249
HP:0001257HP:0001257Spasticity0GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM17354584138249
HP:0001257HP:0001257Spasticity0GRIN2B CL E G H2904616139Epileptic encephalopathy, early infantile, 27616139C4015316OMIM111244586138252
HP:0001257HP:0001257Spasticity0GRIN2B CL E G H2904613970Mental retardation, autosomal dominant 6613970C3151411OMIM111244586138252
HP:0001257HP:0001257Spasticity0GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11634659601679
HP:0001257HP:0001257Spasticity0GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12184661604318
HP:0001257HP:0001257Spasticity0GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM1794670607434
HP:0001257HP:0001257Spasticity0GUF1 CL E G H60558617065Epileptic encephalopathy, early infantile, 40617065C4310737OMIM122025799617064
HP:0001257HP:0001257Spasticity0HEPACAM CL E G H220296604004Megalencephalic leukoencephalopathy with subcortical cysts 1604004C1858854OMIM124726361611642
HP:0001257HP:0001257Spasticity0HEPACAM CL E G H220296613925Megalencephalic leukoencephalopathy with subcortical cysts 2a613925C3151355OMIM124726361611642
HP:0001257HP:0001257Spasticity0HIKESHI CL E G H51501616881Leukodystrophy, hypomyelinating, 13616881C4225170OMIM15226938614908
HP:0001257HP:0001257Spasticity0HMGCL CL E G H3155246450Deficiency of hydroxymethylglutaryl-CoA lyase246450C0268601OMIM13275005613898
HP:0001257HP:0001257Spasticity0HNRNPA1 CL E G H3178803ORPHA1615031164017
HP:0001257HP:0001257Spasticity0HPRT1 CL E G H3251510ORPHA13275157308000
HP:0001257HP:0001257Spasticity0HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13275157308000
HP:0001257HP:0001257Spasticity0HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM12259476602194
HP:0001257HP:0001257Spasticity0HTT CL E G H306439946,XX testicular disorder of sex developmentC2936420ORPHA17354851613004
HP:0001257HP:0001257Spasticity0HTT CL E G H3064617435Lopes-Maciel-Rodan syndrome617435C4479491OMIM17354851613004
HP:0001257HP:0001257Spasticity0IKBKG CL E G H8517308300Incontinentia pigmenti syndrome308300C0021171OMIM13575961300248
HP:0001257HP:0001257Spasticity0INPP5K CL E G H51763559ORPHA115733882607875
HP:0001257HP:0001257Spasticity0IRF2BPL CL E G H64207618088NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES618088CN252701OMIM116714282611720
HP:0001257HP:0001257Spasticity0ISCA1 CL E G H81689617613MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5617613C4539919OMIM14428660611006
HP:0001257HP:0001257Spasticity0ISCA2 CL E G H122961616370Multiple mitochondrial dysfunctions syndrome 4616370C4225348OMIM15619857615317
HP:0001257HP:0001257Spasticity0ITM2B CL E G H9445176500Dementia familial British176500C1867773OMIM11146174603904
HP:0001257HP:0001257Spasticity0ITM2B CL E G H9445117300Dementia, familial Danish117300C1861735OMIM11146174603904
HP:0001257HP:0001257Spasticity0JAM3 CL E G H83700613730Hemorrhagic destruction of the brain, subependymal calcification, and cataracts613730C3151000OMIM120115532606871
HP:0001257HP:0001257Spasticity0KCNT1 CL E G H57582614959Early infantile epileptic encephalopathy 14614959C3554195OMIM1167818865608167
HP:0001257HP:0001257Spasticity0KDM5C CL E G H824285279ORPHA159611114314690
HP:0001257HP:0001257Spasticity0KIF1C CL E G H10749397946ORPHA13666317603060
HP:0001257HP:0001257Spasticity0KIF1C CL E G H10749611302Ataxia, spastic, 2, autosomal recessive611302C1969796OMIM13666317603060
HP:0001257HP:0001257Spasticity0KRAS CL E G H38452396ORPHA14406407190070
HP:0001257HP:0001257Spasticity0L1CAM CL E G H38972182ORPHA17946470308840
HP:0001257HP:0001257Spasticity0L1CAM CL E G H38971497Congenital mixovirusORPHA17946470308840
HP:0001257HP:0001257Spasticity0L1CAM CL E G H3897304100Corpus callosum, partial agenesis of, X-linked304100C1839909OMIM17946470308840
HP:0001257HP:0001257Spasticity0L1CAM CL E G H3897307000X-linked hydrocephalus syndrome307000C0265216OMIM17946470308840
HP:0001257HP:0001257Spasticity0LAGE3 CL E G H8270301006GALLOWAY-MOWAT SYNDROME 2, X-LINKED301006C4538784OMIM123326058300060
HP:0001257HP:0001257Spasticity0LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12016613601329
HP:0001257HP:0001257Spasticity0LMNB1 CL E G H400199027ORPHA11696637150340
HP:0001257HP:0001257Spasticity0LMNB1 CL E G H4001169500Leukodystrophy, adult-onset, autosomal dominant169500C1868512OMIM11696637150340
HP:0001257HP:0001257Spasticity0MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM110156826609458
HP:0001257HP:0001257Spasticity0MARS2 CL E G H92935611390Ataxia, spastic, 3, autosomal recessive611390C1969645OMIM113025133609728
HP:0001257HP:0001257Spasticity0MATR3 CL E G H9782803ORPHA13336912164015
HP:0001257HP:0001257Spasticity0MECP2 CL E G H4204778ORPHA117786990300005
HP:0001257HP:0001257Spasticity0MECP2 CL E G H42043095ORPHA117786990300005
HP:0001257HP:0001257Spasticity0MECP2 CL E G H4204312750Rett syndrome312750C0035372OMIM117786990300005
HP:0001257HP:0001257Spasticity0MED17 CL E G H9440613668Microcephaly, postnatal progressive, with seizures and brain atrophy613668C3150921OMIM13572375603810
HP:0001257HP:0001257Spasticity0MED25 CL E G H81857616449Basel-Vanagaite-Smirin-Yosef syndrome616449C4225323OMIM152528845610197
HP:0001257HP:0001257Spasticity0MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM111724858614785
HP:0001257HP:0001257Spasticity0MLC1 CL E G H23209604004Megalencephalic leukoencephalopathy with subcortical cysts 1604004C1858854OMIM157817082605908
HP:0001257HP:0001257Spasticity0MRPS34 CL E G H65993617664COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32617664C4540029OMIM18316618611994
HP:0001257HP:0001257Spasticity0MT-TF CL E G H4558545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17481590070
HP:0001257HP:0001257Spasticity0MT-TI CL E G H4565545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17488590045
HP:0001257HP:0001257Spasticity0MT-TK CL E G H4566545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17489590060
HP:0001257HP:0001257Spasticity0MT-TL1 CL E G H4567545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17490590050
HP:0001257HP:0001257Spasticity0MT-TP CL E G H4571545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17494590075
HP:0001257HP:0001257Spasticity0MTFMT CL E G H123263618248MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27618248OMIM118129666611766
HP:0001257HP:0001257Spasticity0NACC1 CL E G H112939617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination617393C4479333OMIM123920967610672
HP:0001257HP:0001257Spasticity0NADK2 CL E G H1336866160342,4-Dienoyl-CoA reductase deficiency616034C1857252OMIM116426404615787
HP:0001257HP:0001257Spasticity0NAGA CL E G H466879279ORPHA11837631104170
HP:0001257HP:0001257Spasticity0NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM11837631104170
HP:0001257HP:0001257Spasticity0NARS2 CL E G H79731616239Combined oxidative phosphorylation deficiency 24616239C4015643OMIM120626274612803
HP:0001257HP:0001257Spasticity0NDUFA6 CL E G H4700618253MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33618253OMIM1567690602138
HP:0001257HP:0001257Spasticity0NDUFAF5 CL E G H79133618238MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16618238OMIM127315899612360
HP:0001257HP:0001257Spasticity0NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11047711602694
HP:0001257HP:0001257Spasticity0NDUFV2 CL E G H4729618229MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7618229OMIM11917717600532
HP:0001257HP:0001257Spasticity0NEFH CL E G H4744803ORPHA14657737162230
HP:0001257HP:0001257Spasticity0NEK1 CL E G H4750803ORPHA15257744604588
HP:0001257HP:0001257Spasticity0NEXMIF CL E G H340533300912Mental retardation, X-linked 98300912C3806730OMIM181729433300524
HP:0001257HP:0001257Spasticity0NKX6-2 CL E G H84504617560SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY617560C4479653OMIM117219321605955
HP:0001257HP:0001257Spasticity0NOTCH3 CL E G H4854136ORPHA111337883600276
HP:0001257HP:0001257Spasticity0NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM116937897607623
HP:0001257HP:0001257Spasticity0NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM118314537601015
HP:0001257HP:0001257Spasticity0NSD1 CL E G H643243447ORPHA1139014234606681
HP:0001257HP:0001257Spasticity0NSUN2 CL E G H54888611091Mental retardation, autosomal recessive 5611091C1970199OMIM144325994610916
HP:0001257HP:0001257Spasticity0NTNG1 CL E G H228543095ORPHA14523319608818
HP:0001257HP:0001257Spasticity0NUBPL CL E G H80224618242MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21618242OMIM123720278613621
HP:0001257HP:0001257Spasticity0NUP62 CL E G H23636271930Striatonigral degeneration infantile271930C0795996OMIM1978066605815
HP:0001257HP:0001257Spasticity0NUS1 CL E G H116150617082CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa617082C4310727OMIM122021042610463
HP:0001257HP:0001257Spasticity0OCLN CL E G H1005066581229ORPHA11038104602876
HP:0001257HP:0001257Spasticity0OCLN CL E G H100506658251290Band-like calcification with simplified gyration and polymicrogyria251290C3489725OMIM11038104602876
HP:0001257HP:0001257Spasticity0OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM14488142606580
HP:0001257HP:0001257Spasticity0OPHN1 CL E G H4983300486Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance300486C1845366OMIM13818148300127
HP:0001257HP:0001257Spasticity0OPTN CL E G H10133803ORPHA132817142602432
HP:0001257HP:0001257Spasticity0OSGEP CL E G H55644617729GALLOWAY-MOWAT SYNDROME 3617729C4540266OMIM110618028610107
HP:0001257HP:0001257Spasticity0PANK2 CL E G H80025216873ORPHA137115894606157
HP:0001257HP:0001257Spasticity0PANK2 CL E G H80025607236Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration607236C1846582OMIM137115894606157
HP:0001257HP:0001257Spasticity0PANK2 CL E G H80025234200Pigmentary pallidal degeneration234200C0018523OMIM137115894606157
HP:0001257HP:0001257Spasticity0PCLO CL E G H27445608027Pontocerebellar hypoplasia type 3608027C1842687OMIM1156613406604918
HP:0001257HP:0001257Spasticity0PEX1 CL E G H5189772ORPHA112058850602136
HP:0001257HP:0001257Spasticity0PEX10 CL E G H5192772ORPHA16548851602859
HP:0001257HP:0001257Spasticity0PEX11B CL E G H8799772ORPHA13508853603867
HP:0001257HP:0001257Spasticity0PEX12 CL E G H5193772ORPHA13608854601758
HP:0001257HP:0001257Spasticity0PEX13 CL E G H5194772ORPHA13978855601789
HP:0001257HP:0001257Spasticity0PEX14 CL E G H5195772ORPHA13748856601791
HP:0001257HP:0001257Spasticity0PEX16 CL E G H9409772ORPHA13468857603360
HP:0001257HP:0001257Spasticity0PEX19 CL E G H5824772ORPHA13049713600279
HP:0001257HP:0001257Spasticity0PEX2 CL E G H5828772ORPHA13669717170993
HP:0001257HP:0001257Spasticity0PEX26 CL E G H55670772ORPHA143122965608666
HP:0001257HP:0001257Spasticity0PEX3 CL E G H8504772ORPHA12718858603164
HP:0001257HP:0001257Spasticity0PEX5 CL E G H5830772ORPHA16899719600414
HP:0001257HP:0001257Spasticity0PEX6 CL E G H5190772ORPHA110858859601498
HP:0001257HP:0001257Spasticity0PEX7 CL E G H5191215100Rhizomelic chondrodysplasia punctata type 1215100C1859133OMIM14418860601757
HP:0001257HP:0001257Spasticity0PFN1 CL E G H5216803ORPHA1878881176610
HP:0001257HP:0001257Spasticity0PFN1 CL E G H5216614808Amyotrophic lateral sclerosis 18614808C3553719OMIM1878881176610
HP:0001257HP:0001257Spasticity0PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM14218957311770
HP:0001257HP:0001257Spasticity0PIGN CL E G H23556614080Multiple congenital anomalies-hypotonia-seizures syndrome 1614080C3279775OMIM18578967606097
HP:0001257HP:0001257Spasticity0PLA2G6 CL E G H8398199351ORPHA15989039603604
HP:0001257HP:0001257Spasticity0PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM15989039603604
HP:0001257HP:0001257Spasticity0PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM15989039603604
HP:0001257HP:0001257Spasticity0PLCB1 CL E G H23236613722Early infantile epileptic encephalopathy 12613722C3150988OMIM195215917607120
HP:0001257HP:0001257Spasticity0PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM114018667613036
HP:0001257HP:0001257Spasticity0PMPCB CL E G H9512617954MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6617954CN244567OMIM1689119603131
HP:0001257HP:0001257Spasticity0PNPLA8 CL E G H50640251950Mitochondrial myopathy with lactic acidosis251950C1855033OMIM19028900612123
HP:0001257HP:0001257Spasticity0POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM178530074614258
HP:0001257HP:0001257Spasticity0POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM136830348614366
HP:0001257HP:0001257Spasticity0POLR3B CL E G H55703614381Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism614381C3280644OMIM136830348614366
HP:0001257HP:0001257Spasticity0POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM194319139606822
HP:0001257HP:0001257Spasticity0PON1 CL E G H5444803ORPHA1589204168820
HP:0001257HP:0001257Spasticity0PON2 CL E G H5445803ORPHA1509205602447
HP:0001257HP:0001257Spasticity0PON3 CL E G H5446803ORPHA1469206602720
HP:0001257HP:0001257Spasticity0PPARGC1A CL E G H10891803ORPHA1489237604517
HP:0001257HP:0001257Spasticity0PPP1R15B CL E G H84919616817Microcephaly, short stature, and impaired glucose metabolism 2616817C4225195OMIM14014951613257
HP:0001257HP:0001257Spasticity0PPT1 CL E G H5538256730Ceroid lipofuscinosis neuronal 1256730C1850451OMIM15169325600722
HP:0001257HP:0001257Spasticity0PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM12699330300463
HP:0001257HP:0001257Spasticity0PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11649449176640
HP:0001257HP:0001257Spasticity0PRPH CL E G H5630803ORPHA1539461170710
HP:0001257HP:0001257Spasticity0PUM1 CL E G H9698617931SPINOCEREBELLAR ATAXIA 47617931CN244564OMIM111514957607204
HP:0001257HP:0001257Spasticity0PYCR2 CL E G H29920616420Leukodystrophy, hypomyelinating, 10616420C4225332OMIM110430262616406
HP:0001257HP:0001257Spasticity0RAB11B CL E G H9230617807NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER617807C4540498OMIM11129761604198
HP:0001257HP:0001257Spasticity0RAB18 CL E G H229312510ORPHA118014244602207
HP:0001257HP:0001257Spasticity0RAB27A CL E G H5873607624Griscelli syndrome type 2607624C1868679OMIM12609766603868
HP:0001257HP:0001257Spasticity0RAB3GAP1 CL E G H229302510ORPHA131717063602536
HP:0001257HP:0001257Spasticity0RAB3GAP2 CL E G H257822510ORPHA147417168609275
HP:0001257HP:0001257Spasticity0RAD50 CL E G H10111613078Nijmegen breakage syndrome-like disorder613078C2751318OMIM135719816604040
HP:0001257HP:0001257Spasticity0RARS CL E G H5917616140Leukodystrophy, hypomyelinating, 9616140C4015323OMIM19870107820
HP:0001257HP:0001257Spasticity0REPS1 CL E G H85021617916NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7617916CN895590OMIM18015578614825
HP:0001257HP:0001257Spasticity0RETREG1 CL E G H54463613115Hereditary sensory and autonomic neuropathy type IIB613115C2751092OMIM145325964613114
HP:0001257HP:0001257Spasticity0RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA11809970600404
HP:0001257HP:0001257Spasticity0RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM139930220611908
HP:0001257HP:0001257Spasticity0RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM118713429300379
HP:0001257HP:0001257Spasticity0RNASEH2A CL E G H10535610333Aicardi Goutieres syndrome 4610333C1835912OMIM131418518606034
HP:0001257HP:0001257Spasticity0RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM123524116610330
HP:0001257HP:0001257Spasticity0RNU4ATAC CL E G H1001516832636Hemihypertrophy intestinal web corneal opacityORPHA121434016601428
HP:0001257HP:0001257Spasticity0ROGDI CL E G H796411946ORPHA147329478614574
HP:0001257HP:0001257Spasticity0ROGDI CL E G H79641226750Kohlschutter's syndrome226750C0406740OMIM147329478614574
HP:0001257HP:0001257Spasticity0RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM1113529168610937
HP:0001257HP:0001257Spasticity0RPIA CL E G H22934608611Deficiency of ribose-5-phosphate isomerase608611C1291609OMIM18210297180430
HP:0001257HP:0001257Spasticity0RUSC2 CL E G H9853617773MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61617773C4540424OMIM158423625611053
HP:0001257HP:0001257Spasticity0SACS CL E G H26278270550Spastic ataxia Charlevoix-Saguenay type270550C1849140OMIM1250610519604490
HP:0001257HP:0001257Spasticity0SAMHD1 CL E G H25939612952Aicardi Goutieres syndrome 5612952C2749659OMIM154815925606754
HP:0001257HP:0001257Spasticity0SCN1B CL E G H6324617350Epileptic encephalopathy, early infantile, 52617350C4479236OMIM144410586600235
HP:0001257HP:0001257Spasticity0SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1218610680600857
HP:0001257HP:0001257Spasticity0SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1218610680600857
HP:0001257HP:0001257Spasticity0SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM16033867612848
HP:0001257HP:0001257Spasticity0SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM160710683602690
HP:0001257HP:0001257Spasticity0SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM131221061614725
HP:0001257HP:0001257Spasticity0SIGMAR1 CL E G H10280614373Amyotrophic lateral sclerosis 16, juvenile614373C3280587OMIM12068157601978
HP:0001257HP:0001257Spasticity0SIGMAR1 CL E G H10280300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA12068157601978
HP:0001257HP:0001257Spasticity0SIL1 CL E G H64374559ORPHA122924624608005
HP:0001257HP:0001257Spasticity0SIL1 CL E G H64374248800Marinesco-Sjögren syndrome248800C0024814OMIM122924624608005
HP:0001257HP:0001257Spasticity0SLC13A5 CL E G H2841111946ORPHA156823089608305
HP:0001257HP:0001257Spasticity0SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM156823089608305
HP:0001257HP:0001257Spasticity0SLC17A5 CL E G H26503604369Salla disease604369C1096903OMIM141110933604322
HP:0001257HP:0001257Spasticity0SLC25A12 CL E G H8604612949Hypomyelination, global cerebral612949C2751855OMIM134810982603667
HP:0001257HP:0001257Spasticity0SLC25A22 CL E G H79751609304Early myoclonic encephalopathy609304C0270855OMIM147819954609302
HP:0001257HP:0001257Spasticity0SLC2A1 CL E G H651371277ORPHA182711005138140
HP:0001257HP:0001257Spasticity0SLC2A1 CL E G H6513606777GLUT1 deficiency syndrome 1606777CN030711OMIM182711005138140
HP:0001257HP:0001257Spasticity0SLC2A1 CL E G H6513608885Stomatin-deficient cryohydrocytosis with neurologic defects608885C1837206OMIM182711005138140
HP:0001257HP:0001257Spasticity0SLC2A3 CL E G H651539946,XX testicular disorder of sex developmentC2936420ORPHA17111007138170
HP:0001257HP:0001257Spasticity0SLC39A14 CL E G H23516617013Hypermanganesemia with dystonia 2617013C4310765OMIM117620858608736
HP:0001257HP:0001257Spasticity0SLC6A5 CL E G H91523197Lateral body wall defectORPHA153211051604159
HP:0001257HP:0001257Spasticity0SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM190311055300036
HP:0001257HP:0001257Spasticity0SMPD1 CL E G H6609257200Niemann-Pick disease, type A257200C0268242OMIM174711120607608
HP:0001257HP:0001257Spasticity0SNCA CL E G H6622171695ORPHA117711138163890
HP:0001257HP:0001257Spasticity0SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM113032952616663
HP:0001257HP:0001257Spasticity0SNX14 CL E G H57231616354Spinocerebellar ataxia, autosomal recessive 20616354C4225355OMIM116214977616105
HP:0001257HP:0001257Spasticity0SOD1 CL E G H6647803ORPHA125311179147450
HP:0001257HP:0001257Spasticity0SOD1 CL E G H6647105400Amyotrophic lateral sclerosis type 1105400C1862939OMIM125311179147450
HP:0001257HP:0001257Spasticity0SOX10 CL E G H6663163746ORPHA130211190602229
HP:0001257HP:0001257Spasticity0SPATA5 CL E G H166378616577Epilepsy, hearing loss, and mental retardation syndrome616577C4225276OMIM164618119613940
HP:0001257HP:0001257Spasticity0SPG11 CL E G H80208602099Amyotrophic lateral sclerosis type 5602099C1865864OMIM1216511226610844
HP:0001257HP:0001257Spasticity0SPG11 CL E G H80208300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1216511226610844
HP:0001257HP:0001257Spasticity0SPG21 CL E G H51324101001ORPHA114520373608181
HP:0001257HP:0001257Spasticity0SPR CL E G H6697612716Sepiapterin reductase deficiency612716C0268468OMIM116011257182125
HP:0001257HP:0001257Spasticity0SQSTM1 CL E G H8878803ORPHA154211280601530
HP:0001257HP:0001257Spasticity0STN1 CL E G H79991617341Cerebroretinal microangiopathy with calcifications and cysts 2617341C4479220OMIM113826200613128
HP:0001257HP:0001257Spasticity0STXBP1 CL E G H68123095ORPHA187111444602926
HP:0001257HP:0001257Spasticity0SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM130911448603921
HP:0001257HP:0001257Spasticity0SUMF1 CL E G H285362272200Multiple sulfatase deficiency272200C0268263OMIM156420376607939
HP:0001257HP:0001257Spasticity0SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM135511474185620
HP:0001257HP:0001257Spasticity0SUZ12 CL E G H235123447ORPHA110317101606245
HP:0001257HP:0001257Spasticity0TAF15 CL E G H8148803ORPHA18911547601574
HP:0001257HP:0001257Spasticity0TAF2 CL E G H6873615599Mental retardation, autosomal recessive 40615599C3810080OMIM116911536604912
HP:0001257HP:0001257Spasticity0TARDBP CL E G H23435803ORPHA125911571605078
HP:0001257HP:0001257Spasticity0TARDBP CL E G H23435612069Amyotrophic lateral sclerosis type 10612069C2677565OMIM125911571605078
HP:0001257HP:0001257Spasticity0TBC1D20 CL E G H1286372510ORPHA115416133611663
HP:0001257HP:0001257Spasticity0TBK1 CL E G H29110803ORPHA129411584604834
HP:0001257HP:0001257Spasticity0TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA116611586605842
HP:0001257HP:0001257Spasticity0TBP CL E G H690898759ORPHA111611588600075
HP:0001257HP:0001257Spasticity0TCTN2 CL E G H79867616654Joubert syndrome 24616654C4084841OMIM145325774613846
HP:0001257HP:0001257Spasticity0TELO2 CL E G H9894616954You-Hoover-Fong syndrome616954C4310778OMIM117529099611140
HP:0001257HP:0001257Spasticity0TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM121711817300356
HP:0001257HP:0001257Spasticity0TMEM231 CL E G H795832752ORPHA134137234614949
HP:0001257HP:0001257Spasticity0TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM167428396609884
HP:0001257HP:0001257Spasticity0TMTC3 CL E G H160418617255Lissencephaly 8617255C4310646OMIM110826899617218
HP:0001257HP:0001257Spasticity0TP53RK CL E G H112858617730GALLOWAY-MOWAT SYNDROME 4617730C4540270OMIM14016197608679
HP:0001257HP:0001257Spasticity0TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM114412009190450
HP:0001257HP:0001257Spasticity0TPK1 CL E G H27010614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)614458C3280866OMIM126117358606370
HP:0001257HP:0001257Spasticity0TPRKB CL E G H51002617731GALLOWAY-MOWAT SYNDROME 5617731C4540274OMIM12224259608680
HP:0001257HP:0001257Spasticity0TRAK1 CL E G H22906618201EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68618201OMIM110629947608112
HP:0001257HP:0001257Spasticity0TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM111424284614139
HP:0001257HP:0001257Spasticity0TREM2 CL E G H54209803ORPHA111017761605086
HP:0001257HP:0001257Spasticity0TREM2 CL E G H542092770ORPHA111017761605086
HP:0001257HP:0001257Spasticity0TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM132712269606609
HP:0001257HP:0001257Spasticity0TRIT1 CL E G H54802617873COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35617873CN807948OMIM17620286617840
HP:0001257HP:0001257Spasticity0TRMT5 CL E G H57570616539Combined oxidative phosphorylation deficiency 26616539C4225290OMIM19823141611023
HP:0001257HP:0001257Spasticity0TSEN54 CL E G H283989225753Pontocerebellar hypoplasia type 4225753C1856974OMIM130427561608755
HP:0001257HP:0001257Spasticity0TTR CL E G H7276105210Amyloidogenic transthyretin amyloidosis105210C2751492OMIM134112405176300
HP:0001257HP:0001257Spasticity0TUBB3 CL E G H10381614039Cortical dysplasia, complex, with other brain malformations 1614039C3808397OMIM124720772602661
HP:0001257HP:0001257Spasticity0TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM121920774602662
HP:0001257HP:0001257Spasticity0TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM15017772609063
HP:0001257HP:0001257Spasticity0TYROBP CL E G H73052770ORPHA18512449604142
HP:0001257HP:0001257Spasticity0TYROBP CL E G H7305221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy221770C1857316OMIM18512449604142
HP:0001257HP:0001257Spasticity0UBA5 CL E G H79876617132Epileptic encephalopathy, early infantile, 44617132C4310700OMIM115723230610552
HP:0001257HP:0001257Spasticity0UBQLN2 CL E G H29978803ORPHA122312509300264
HP:0001257HP:0001257Spasticity0UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM15512511600673
HP:0001257HP:0001257Spasticity0UFC1 CL E G H51506618076NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH618076CN252685OMIM12526941610554
HP:0001257HP:0001257Spasticity0UFM1 CL E G H51569617899LEUKODYSTROPHY, HYPOMYELINATING, 14617899CN845004OMIM16520597610553
HP:0001257HP:0001257Spasticity0UNC13A CL E G H23025803ORPHA17523150609894
HP:0001257HP:0001257Spasticity0UNC80 CL E G H285175616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 2616801C4225203OMIM1116626582612636
HP:0001257HP:0001257Spasticity0VAPB CL E G H9217803ORPHA131912649605704
HP:0001257HP:0001257Spasticity0VCP CL E G H7415803ORPHA147312666601023
HP:0001257HP:0001257Spasticity0VPS11 CL E G H55823466934ORPHA113914583608549
HP:0001257HP:0001257Spasticity0VPS11 CL E G H55823616683Leukodystrophy, hypomyelinating, 12616683C4225247OMIM113914583608549
HP:0001257HP:0001257Spasticity0VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM139023595608877
HP:0001257HP:0001257Spasticity0WDR73 CL E G H8494283472ORPHA113825928616144
HP:0001257HP:0001257Spasticity0WWOX CL E G H51741616211Epileptic encephalopathy, early infantile, 28616211C4015519OMIM196712799605131
HP:0001257HP:0001257Spasticity0XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM127612814611153
HP:0001257HP:0001257Spasticity0ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM123724931300897
HP:0001257HP:0001257Spasticity0ZNF335 CL E G H63925615095Primary autosomal recessive microcephaly 10615095C3554499OMIM131115807610827
HP:0001257HP:0001257Spasticity0ZNF592 CL E G H964083472ORPHA16728986613624
HP:0001257HP:0002491Spasticity of facial muscles1AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0001257HP:0031866Clasp-knife sign1AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0001257HP:0002061Lower limb spasticity1AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0001257HP:0002179Opisthotonus1AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0001257HP:0002191Progressive spasticity1AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0001257HP:0001264Spastic diplegia1AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0001257HP:0002464Spastic dysarthria1AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0001257HP:0002064Spastic gait1AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0001257HP:0011099Spastic hemiparesis1AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0001257HP:0001285Spastic tetraparesis1AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0001257HP:0002510Spastic tetraplegia1AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0001257HP:0002501Spasticity of pharyngeal muscles1AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0001257HP:0006986Upper limb spasticity1AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0001257HP:0002491Spasticity of facial muscles1AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM142921022612035
HP:0001257HP:0031866Clasp-knife sign1AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM142921022612035
HP:0001257HP:0002061Lower limb spasticity1AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM142921022612035
HP:0001257HP:0002179Opisthotonus1AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM142921022612035
HP:0001257HP:0002191Progressive spasticity1AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM142921022612035
HP:0001257HP:0001264Spastic diplegia1AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM142921022612035
HP:0001257HP:0002464Spastic dysarthria1AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM142921022612035
HP:0001257HP:0002064Spastic gait1AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM142921022612035
HP:0001257HP:0011099Spastic hemiparesis1AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM142921022612035
HP:0001257HP:0001285Spastic tetraparesis1AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM142921022612035
HP:0001257HP:0002510Spastic tetraplegia1AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM142921022612035
HP:0001257HP:0002501Spasticity of pharyngeal muscles1AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM142921022612035
HP:0001257HP:0006986Upper limb spasticity1AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM142921022612035
HP:0001257HP:0002491Spasticity of facial muscles1ABCC8 CL E G H6833240800Leucine-induced hypoglycemia240800C0271714OMIM1156959600509
HP:0001257HP:0031866Clasp-knife sign1ABCC8 CL E G H6833240800Leucine-induced hypoglycemia240800C0271714OMIM1156959600509
HP:0001257HP:0002061Lower limb spasticity1ABCC8 CL E G H6833240800Leucine-induced hypoglycemia240800C0271714OMIM1156959600509
HP:0001257HP:0002179Opisthotonus1ABCC8 CL E G H6833240800Leucine-induced hypoglycemia240800C0271714OMIM1156959600509
HP:0001257HP:0002191Progressive spasticity1ABCC8 CL E G H6833240800Leucine-induced hypoglycemia240800C0271714OMIM1156959600509
HP:0001257HP:0001264Spastic diplegia1ABCC8 CL E G H6833240800Leucine-induced hypoglycemia240800C0271714OMIM1156959600509
HP:0001257HP:0002464Spastic dysarthria1ABCC8 CL E G H6833240800Leucine-induced hypoglycemia240800C0271714OMIM1156959600509
HP:0001257HP:0002064Spastic gait1ABCC8 CL E G H6833240800Leucine-induced hypoglycemia240800C0271714OMIM1156959600509
HP:0001257HP:0011099Spastic hemiparesis1ABCC8 CL E G H6833240800Leucine-induced hypoglycemia240800C0271714OMIM1156959600509
HP:0001257HP:0001285Spastic tetraparesis1ABCC8 CL E G H6833240800Leucine-induced hypoglycemia240800C0271714OMIM1156959600509
HP:0001257HP:0002510Spastic tetraplegia1ABCC8 CL E G H6833240800Leucine-induced hypoglycemia240800C0271714OMIM1156959600509
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ABCC8 CL E G H6833240800Leucine-induced hypoglycemia240800C0271714OMIM1156959600509
HP:0001257HP:0006986Upper limb spasticity1ABCC8 CL E G H6833240800Leucine-induced hypoglycemia240800C0271714OMIM1156959600509
HP:0001257HP:0002491Spasticity of facial muscles1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM143015868613599
HP:0001257HP:0031866Clasp-knife sign1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM143015868613599
HP:0001257HP:0002061Lower limb spasticity1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM143015868613599
HP:0001257HP:0002179Opisthotonus1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM143015868613599
HP:0001257HP:0002191Progressive spasticity1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM143015868613599
HP:0001257HP:0001264Spastic diplegia1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM143015868613599
HP:0001257HP:0002464Spastic dysarthria1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM143015868613599
HP:0001257HP:0002064Spastic gait1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM143015868613599
HP:0001257HP:0011099Spastic hemiparesis1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM143015868613599
HP:0001257HP:0001285Spastic tetraparesis1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM143015868613599
HP:0001257HP:0002510Spastic tetraplegia1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM143015868613599
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM143015868613599
HP:0001257HP:0006986Upper limb spasticity1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM143015868613599
HP:0001257HP:0002491Spasticity of facial muscles1ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM14916066617036
HP:0001257HP:0031866Clasp-knife sign1ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM14916066617036
HP:0001257HP:0002061Lower limb spasticity1ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM14916066617036
HP:0001257HP:0002179Opisthotonus1ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM14916066617036
HP:0001257HP:0002191Progressive spasticity1ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM14916066617036
HP:0001257HP:0001264Spastic diplegia1ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM14916066617036
HP:0001257HP:0002464Spastic dysarthria1ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM14916066617036
HP:0001257HP:0002064Spastic gait1ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM14916066617036
HP:0001257HP:0011099Spastic hemiparesis1ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM14916066617036
HP:0001257HP:0001285Spastic tetraparesis1ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM14916066617036
HP:0001257HP:0002510Spastic tetraplegia1ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM14916066617036
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM14916066617036
HP:0001257HP:0006986Upper limb spasticity1ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM14916066617036
HP:0001257HP:0002491Spasticity of facial muscles1ADAM22 CL E G H53616617933Early infantile epileptic encephalopathy 61617933CN244550OMIM152201603709
HP:0001257HP:0031866Clasp-knife sign1ADAM22 CL E G H53616617933Early infantile epileptic encephalopathy 61617933CN244550OMIM152201603709
HP:0001257HP:0002061Lower limb spasticity1ADAM22 CL E G H53616617933Early infantile epileptic encephalopathy 61617933CN244550OMIM152201603709
HP:0001257HP:0002179Opisthotonus1ADAM22 CL E G H53616617933Early infantile epileptic encephalopathy 61617933CN244550OMIM152201603709
HP:0001257HP:0002191Progressive spasticity1ADAM22 CL E G H53616617933Early infantile epileptic encephalopathy 61617933CN244550OMIM152201603709
HP:0001257HP:0001264Spastic diplegia1ADAM22 CL E G H53616617933Early infantile epileptic encephalopathy 61617933CN244550OMIM152201603709
HP:0001257HP:0002464Spastic dysarthria1ADAM22 CL E G H53616617933Early infantile epileptic encephalopathy 61617933CN244550OMIM152201603709
HP:0001257HP:0002064Spastic gait1ADAM22 CL E G H53616617933Early infantile epileptic encephalopathy 61617933CN244550OMIM152201603709
HP:0001257HP:0011099Spastic hemiparesis1ADAM22 CL E G H53616617933Early infantile epileptic encephalopathy 61617933CN244550OMIM152201603709
HP:0001257HP:0001285Spastic tetraparesis1ADAM22 CL E G H53616617933Early infantile epileptic encephalopathy 61617933CN244550OMIM152201603709
HP:0001257HP:0002510Spastic tetraplegia1ADAM22 CL E G H53616617933Early infantile epileptic encephalopathy 61617933CN244550OMIM152201603709
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ADAM22 CL E G H53616617933Early infantile epileptic encephalopathy 61617933CN244550OMIM152201603709
HP:0001257HP:0006986Upper limb spasticity1ADAM22 CL E G H53616617933Early infantile epileptic encephalopathy 61617933CN244550OMIM152201603709
HP:0001257HP:0002491Spasticity of facial muscles1AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1385315604581
HP:0001257HP:0031866Clasp-knife sign1AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1385315604581
HP:0001257HP:0002061Lower limb spasticity1AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1385315604581
HP:0001257HP:0002179Opisthotonus1AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1385315604581
HP:0001257HP:0002191Progressive spasticity1AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1385315604581
HP:0001257HP:0001264Spastic diplegia1AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1385315604581
HP:0001257HP:0002464Spastic dysarthria1AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1385315604581
HP:0001257HP:0002064Spastic gait1AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1385315604581
HP:0001257HP:0011099Spastic hemiparesis1AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1385315604581
HP:0001257HP:0001285Spastic tetraparesis1AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1385315604581
HP:0001257HP:0002510Spastic tetraplegia1AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1385315604581
HP:0001257HP:0002501Spasticity of pharyngeal muscles1AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1385315604581
HP:0001257HP:0006986Upper limb spasticity1AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1385315604581
HP:0001257HP:0002491Spasticity of facial muscles1AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1413318613228
HP:0001257HP:0031866Clasp-knife sign1AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1413318613228
HP:0001257HP:0002061Lower limb spasticity1AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1413318613228
HP:0001257HP:0002179Opisthotonus1AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1413318613228
HP:0001257HP:0002191Progressive spasticity1AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1413318613228
HP:0001257HP:0001264Spastic diplegia1AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1413318613228
HP:0001257HP:0002464Spastic dysarthria1AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1413318613228
HP:0001257HP:0002064Spastic gait1AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1413318613228
HP:0001257HP:0011099Spastic hemiparesis1AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1413318613228
HP:0001257HP:0001285Spastic tetraparesis1AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1413318613228
HP:0001257HP:0002510Spastic tetraplegia1AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1413318613228
HP:0001257HP:0002501Spasticity of pharyngeal muscles1AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1413318613228
HP:0001257HP:0006986Upper limb spasticity1AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1413318613228
HP:0001257HP:0002491Spasticity of facial muscles1ALDH18A1 CL E G H5832616586Spastic paraplegia 9b, autosomal recessive616586C4225272OMIM14379722138250
HP:0001257HP:0031866Clasp-knife sign1ALDH18A1 CL E G H5832616586Spastic paraplegia 9b, autosomal recessive616586C4225272OMIM14379722138250
HP:0001257HP:0002061Lower limb spasticity1ALDH18A1 CL E G H5832616586Spastic paraplegia 9b, autosomal recessive616586C4225272OMIM14379722138250
HP:0001257HP:0002179Opisthotonus1ALDH18A1 CL E G H5832616586Spastic paraplegia 9b, autosomal recessive616586C4225272OMIM14379722138250
HP:0001257HP:0002191Progressive spasticity1ALDH18A1 CL E G H5832616586Spastic paraplegia 9b, autosomal recessive616586C4225272OMIM14379722138250
HP:0001257HP:0001264Spastic diplegia1ALDH18A1 CL E G H5832616586Spastic paraplegia 9b, autosomal recessive616586C4225272OMIM14379722138250
HP:0001257HP:0002464Spastic dysarthria1ALDH18A1 CL E G H5832616586Spastic paraplegia 9b, autosomal recessive616586C4225272OMIM14379722138250
HP:0001257HP:0002064Spastic gait1ALDH18A1 CL E G H5832616586Spastic paraplegia 9b, autosomal recessive616586C4225272OMIM14379722138250
HP:0001257HP:0011099Spastic hemiparesis1ALDH18A1 CL E G H5832616586Spastic paraplegia 9b, autosomal recessive616586C4225272OMIM14379722138250
HP:0001257HP:0001285Spastic tetraparesis1ALDH18A1 CL E G H5832616586Spastic paraplegia 9b, autosomal recessive616586C4225272OMIM14379722138250
HP:0001257HP:0002510Spastic tetraplegia1ALDH18A1 CL E G H5832616586Spastic paraplegia 9b, autosomal recessive616586C4225272OMIM14379722138250
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ALDH18A1 CL E G H5832616586Spastic paraplegia 9b, autosomal recessive616586C4225272OMIM14379722138250
HP:0001257HP:0006986Upper limb spasticity1ALDH18A1 CL E G H5832616586Spastic paraplegia 9b, autosomal recessive616586C4225272OMIM14379722138250
HP:0001257HP:0002491Spasticity of facial muscles1ALDH3A2 CL E G H224270200Sjögren-Larsson syndrome270200C0037231OMIM1538403609523
HP:0001257HP:0031866Clasp-knife sign1ALDH3A2 CL E G H224270200Sjögren-Larsson syndrome270200C0037231OMIM1538403609523
HP:0001257HP:0002061Lower limb spasticity1ALDH3A2 CL E G H224270200Sjögren-Larsson syndrome270200C0037231OMIM1538403609523
HP:0001257HP:0002179Opisthotonus1ALDH3A2 CL E G H224270200Sjögren-Larsson syndrome270200C0037231OMIM1538403609523
HP:0001257HP:0002191Progressive spasticity1ALDH3A2 CL E G H224270200Sjögren-Larsson syndrome270200C0037231OMIM1538403609523
HP:0001257HP:0001264Spastic diplegia1ALDH3A2 CL E G H224270200Sjögren-Larsson syndrome270200C0037231OMIM1538403609523
HP:0001257HP:0002464Spastic dysarthria1ALDH3A2 CL E G H224270200Sjögren-Larsson syndrome270200C0037231OMIM1538403609523
HP:0001257HP:0002064Spastic gait1ALDH3A2 CL E G H224270200Sjögren-Larsson syndrome270200C0037231OMIM1538403609523
HP:0001257HP:0011099Spastic hemiparesis1ALDH3A2 CL E G H224270200Sjögren-Larsson syndrome270200C0037231OMIM1538403609523
HP:0001257HP:0001285Spastic tetraparesis1ALDH3A2 CL E G H224270200Sjögren-Larsson syndrome270200C0037231OMIM1538403609523
HP:0001257HP:0002510Spastic tetraplegia1ALDH3A2 CL E G H224270200Sjögren-Larsson syndrome270200C0037231OMIM1538403609523
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ALDH3A2 CL E G H224270200Sjögren-Larsson syndrome270200C0037231OMIM1538403609523
HP:0001257HP:0006986Upper limb spasticity1ALDH3A2 CL E G H224270200Sjögren-Larsson syndrome270200C0037231OMIM1538403609523
HP:0001257HP:0002491Spasticity of facial muscles1ALS2 CL E G H57679300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1754443606352
HP:0001257HP:0031866Clasp-knife sign1ALS2 CL E G H57679300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1754443606352
HP:0001257HP:0002061Lower limb spasticity1ALS2 CL E G H57679300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1754443606352
HP:0001257HP:0002179Opisthotonus1ALS2 CL E G H57679300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1754443606352
HP:0001257HP:0002191Progressive spasticity1ALS2 CL E G H57679300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1754443606352
HP:0001257HP:0001264Spastic diplegia1ALS2 CL E G H57679300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1754443606352
HP:0001257HP:0002464Spastic dysarthria1ALS2 CL E G H57679300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1754443606352
HP:0001257HP:0002064Spastic gait1ALS2 CL E G H57679300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1754443606352
HP:0001257HP:0011099Spastic hemiparesis1ALS2 CL E G H57679300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1754443606352
HP:0001257HP:0001285Spastic tetraparesis1ALS2 CL E G H57679300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1754443606352
HP:0001257HP:0002510Spastic tetraplegia1ALS2 CL E G H57679300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1754443606352
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ALS2 CL E G H57679300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1754443606352
HP:0001257HP:0006986Upper limb spasticity1ALS2 CL E G H57679300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1754443606352
HP:0001257HP:0002491Spasticity of facial muscles1AMACR CL E G H23600614307Alpha-methylacyl-CoA racemase deficiency614307C3280428OMIM1290451604489
HP:0001257HP:0031866Clasp-knife sign1AMACR CL E G H23600614307Alpha-methylacyl-CoA racemase deficiency614307C3280428OMIM1290451604489
HP:0001257HP:0002061Lower limb spasticity1AMACR CL E G H23600614307Alpha-methylacyl-CoA racemase deficiency614307C3280428OMIM1290451604489
HP:0001257HP:0002179Opisthotonus1AMACR CL E G H23600614307Alpha-methylacyl-CoA racemase deficiency614307C3280428OMIM1290451604489
HP:0001257HP:0002191Progressive spasticity1AMACR CL E G H23600614307Alpha-methylacyl-CoA racemase deficiency614307C3280428OMIM1290451604489
HP:0001257HP:0001264Spastic diplegia1AMACR CL E G H23600614307Alpha-methylacyl-CoA racemase deficiency614307C3280428OMIM1290451604489
HP:0001257HP:0002464Spastic dysarthria1AMACR CL E G H23600614307Alpha-methylacyl-CoA racemase deficiency614307C3280428OMIM1290451604489
HP:0001257HP:0002064Spastic gait1AMACR CL E G H23600614307Alpha-methylacyl-CoA racemase deficiency614307C3280428OMIM1290451604489
HP:0001257HP:0011099Spastic hemiparesis1AMACR CL E G H23600614307Alpha-methylacyl-CoA racemase deficiency614307C3280428OMIM1290451604489
HP:0001257HP:0001285Spastic tetraparesis1AMACR CL E G H23600614307Alpha-methylacyl-CoA racemase deficiency614307C3280428OMIM1290451604489
HP:0001257HP:0002510Spastic tetraplegia1AMACR CL E G H23600614307Alpha-methylacyl-CoA racemase deficiency614307C3280428OMIM1290451604489
HP:0001257HP:0002501Spasticity of pharyngeal muscles1AMACR CL E G H23600614307Alpha-methylacyl-CoA racemase deficiency614307C3280428OMIM1290451604489
HP:0001257HP:0006986Upper limb spasticity1AMACR CL E G H23600614307Alpha-methylacyl-CoA racemase deficiency614307C3280428OMIM1290451604489
HP:0001257HP:0002491Spasticity of facial muscles1AMPD2 CL E G H271615809Pontocerebellar hypoplasia, type 9615809C4014354OMIM1276469102771
HP:0001257HP:0031866Clasp-knife sign1AMPD2 CL E G H271615809Pontocerebellar hypoplasia, type 9615809C4014354OMIM1276469102771
HP:0001257HP:0002061Lower limb spasticity1AMPD2 CL E G H271615809Pontocerebellar hypoplasia, type 9615809C4014354OMIM1276469102771
HP:0001257HP:0002179Opisthotonus1AMPD2 CL E G H271615809Pontocerebellar hypoplasia, type 9615809C4014354OMIM1276469102771
HP:0001257HP:0002191Progressive spasticity1AMPD2 CL E G H271615809Pontocerebellar hypoplasia, type 9615809C4014354OMIM1276469102771
HP:0001257HP:0001264Spastic diplegia1AMPD2 CL E G H271615809Pontocerebellar hypoplasia, type 9615809C4014354OMIM1276469102771
HP:0001257HP:0002464Spastic dysarthria1AMPD2 CL E G H271615809Pontocerebellar hypoplasia, type 9615809C4014354OMIM1276469102771
HP:0001257HP:0002064Spastic gait1AMPD2 CL E G H271615809Pontocerebellar hypoplasia, type 9615809C4014354OMIM1276469102771
HP:0001257HP:0011099Spastic hemiparesis1AMPD2 CL E G H271615809Pontocerebellar hypoplasia, type 9615809C4014354OMIM1276469102771
HP:0001257HP:0001285Spastic tetraparesis1AMPD2 CL E G H271615809Pontocerebellar hypoplasia, type 9615809C4014354OMIM1276469102771
HP:0001257HP:0002510Spastic tetraplegia1AMPD2 CL E G H271615809Pontocerebellar hypoplasia, type 9615809C4014354OMIM1276469102771
HP:0001257HP:0002501Spasticity of pharyngeal muscles1AMPD2 CL E G H271615809Pontocerebellar hypoplasia, type 9615809C4014354OMIM1276469102771
HP:0001257HP:0006986Upper limb spasticity1AMPD2 CL E G H271615809Pontocerebellar hypoplasia, type 9615809C4014354OMIM1276469102771
HP:0001257HP:0002491Spasticity of facial muscles1ANG CL E G H283803ORPHA197483105850
HP:0001257HP:0031866Clasp-knife sign1ANG CL E G H283803ORPHA197483105850
HP:0001257HP:0002061Lower limb spasticity1ANG CL E G H283803ORPHA197483105850
HP:0001257HP:0002179Opisthotonus1ANG CL E G H283803ORPHA197483105850
HP:0001257HP:0002191Progressive spasticity1ANG CL E G H283803ORPHA197483105850
HP:0001257HP:0001264Spastic diplegia1ANG CL E G H283803ORPHA197483105850
HP:0001257HP:0002464Spastic dysarthria1ANG CL E G H283803ORPHA197483105850
HP:0001257HP:0002064Spastic gait1ANG CL E G H283803ORPHA197483105850
HP:0001257HP:0011099Spastic hemiparesis1ANG CL E G H283803ORPHA197483105850
HP:0001257HP:0001285Spastic tetraparesis1ANG CL E G H283803ORPHA197483105850
HP:0001257HP:0002510Spastic tetraplegia1ANG CL E G H283803ORPHA197483105850
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ANG CL E G H283803ORPHA197483105850
HP:0001257HP:0006986Upper limb spasticity1ANG CL E G H283803ORPHA197483105850
HP:0001257HP:0002491Spasticity of facial muscles1ANG CL E G H283611895Amyotrophic lateral sclerosis type 9611895C2678468OMIM197483105850
HP:0001257HP:0031866Clasp-knife sign1ANG CL E G H283611895Amyotrophic lateral sclerosis type 9611895C2678468OMIM197483105850
HP:0001257HP:0002061Lower limb spasticity1ANG CL E G H283611895Amyotrophic lateral sclerosis type 9611895C2678468OMIM197483105850
HP:0001257HP:0002179Opisthotonus1ANG CL E G H283611895Amyotrophic lateral sclerosis type 9611895C2678468OMIM197483105850
HP:0001257HP:0002191Progressive spasticity1ANG CL E G H283611895Amyotrophic lateral sclerosis type 9611895C2678468OMIM197483105850
HP:0001257HP:0001264Spastic diplegia1ANG CL E G H283611895Amyotrophic lateral sclerosis type 9611895C2678468OMIM197483105850
HP:0001257HP:0002464Spastic dysarthria1ANG CL E G H283611895Amyotrophic lateral sclerosis type 9611895C2678468OMIM197483105850
HP:0001257HP:0002064Spastic gait1ANG CL E G H283611895Amyotrophic lateral sclerosis type 9611895C2678468OMIM197483105850
HP:0001257HP:0011099Spastic hemiparesis1ANG CL E G H283611895Amyotrophic lateral sclerosis type 9611895C2678468OMIM197483105850
HP:0001257HP:0001285Spastic tetraparesis1ANG CL E G H283611895Amyotrophic lateral sclerosis type 9611895C2678468OMIM197483105850
HP:0001257HP:0002510Spastic tetraplegia1ANG CL E G H283611895Amyotrophic lateral sclerosis type 9611895C2678468OMIM197483105850
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ANG CL E G H283611895Amyotrophic lateral sclerosis type 9611895C2678468OMIM197483105850
HP:0001257HP:0006986Upper limb spasticity1ANG CL E G H283611895Amyotrophic lateral sclerosis type 9611895C2678468OMIM197483105850
HP:0001257HP:0002491Spasticity of facial muscles1ANK3 CL E G H288615493Mental retardation, autosomal recessive 37615493C3809672OMIM1615494600465
HP:0001257HP:0031866Clasp-knife sign1ANK3 CL E G H288615493Mental retardation, autosomal recessive 37615493C3809672OMIM1615494600465
HP:0001257HP:0002061Lower limb spasticity1ANK3 CL E G H288615493Mental retardation, autosomal recessive 37615493C3809672OMIM1615494600465
HP:0001257HP:0002179Opisthotonus1ANK3 CL E G H288615493Mental retardation, autosomal recessive 37615493C3809672OMIM1615494600465
HP:0001257HP:0002191Progressive spasticity1ANK3 CL E G H288615493Mental retardation, autosomal recessive 37615493C3809672OMIM1615494600465
HP:0001257HP:0001264Spastic diplegia1ANK3 CL E G H288615493Mental retardation, autosomal recessive 37615493C3809672OMIM1615494600465
HP:0001257HP:0002464Spastic dysarthria1ANK3 CL E G H288615493Mental retardation, autosomal recessive 37615493C3809672OMIM1615494600465
HP:0001257HP:0002064Spastic gait1ANK3 CL E G H288615493Mental retardation, autosomal recessive 37615493C3809672OMIM1615494600465
HP:0001257HP:0011099Spastic hemiparesis1ANK3 CL E G H288615493Mental retardation, autosomal recessive 37615493C3809672OMIM1615494600465
HP:0001257HP:0001285Spastic tetraparesis1ANK3 CL E G H288615493Mental retardation, autosomal recessive 37615493C3809672OMIM1615494600465
HP:0001257HP:0002510Spastic tetraplegia1ANK3 CL E G H288615493Mental retardation, autosomal recessive 37615493C3809672OMIM1615494600465
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ANK3 CL E G H288615493Mental retardation, autosomal recessive 37615493C3809672OMIM1615494600465
HP:0001257HP:0006986Upper limb spasticity1ANK3 CL E G H288615493Mental retardation, autosomal recessive 37615493C3809672OMIM1615494600465
HP:0001257HP:0002491Spasticity of facial muscles1ANXA11 CL E G H311803ORPHA1201535602572
HP:0001257HP:0031866Clasp-knife sign1ANXA11 CL E G H311803ORPHA1201535602572
HP:0001257HP:0002061Lower limb spasticity1ANXA11 CL E G H311803ORPHA1201535602572
HP:0001257HP:0002179Opisthotonus1ANXA11 CL E G H311803ORPHA1201535602572
HP:0001257HP:0002191Progressive spasticity1ANXA11 CL E G H311803ORPHA1201535602572
HP:0001257HP:0001264Spastic diplegia1ANXA11 CL E G H311803ORPHA1201535602572
HP:0001257HP:0002464Spastic dysarthria1ANXA11 CL E G H311803ORPHA1201535602572
HP:0001257HP:0002064Spastic gait1ANXA11 CL E G H311803ORPHA1201535602572
HP:0001257HP:0011099Spastic hemiparesis1ANXA11 CL E G H311803ORPHA1201535602572
HP:0001257HP:0001285Spastic tetraparesis1ANXA11 CL E G H311803ORPHA1201535602572
HP:0001257HP:0002510Spastic tetraplegia1ANXA11 CL E G H311803ORPHA1201535602572
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ANXA11 CL E G H311803ORPHA1201535602572
HP:0001257HP:0006986Upper limb spasticity1ANXA11 CL E G H311803ORPHA1201535602572
HP:0001257HP:0002491Spasticity of facial muscles1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1218560300629
HP:0001257HP:0031866Clasp-knife sign1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1218560300629
HP:0001257HP:0002061Lower limb spasticity1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1218560300629
HP:0001257HP:0002179Opisthotonus1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1218560300629
HP:0001257HP:0002191Progressive spasticity1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1218560300629
HP:0001257HP:0001264Spastic diplegia1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1218560300629
HP:0001257HP:0002464Spastic dysarthria1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1218560300629
HP:0001257HP:0002064Spastic gait1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1218560300629
HP:0001257HP:0011099Spastic hemiparesis1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1218560300629
HP:0001257HP:0001285Spastic tetraparesis1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1218560300629
HP:0001257HP:0002510Spastic tetraplegia1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1218560300629
HP:0001257HP:0002501Spasticity of pharyngeal muscles1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1218560300629
HP:0001257HP:0006986Upper limb spasticity1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1218560300629
HP:0001257HP:0002491Spasticity of facial muscles1AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1300572607245
HP:0001257HP:0031866Clasp-knife sign1AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1300572607245
HP:0001257HP:0002061Lower limb spasticity1AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1300572607245
HP:0001257HP:0002179Opisthotonus1AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1300572607245
HP:0001257HP:0002191Progressive spasticity1AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1300572607245
HP:0001257HP:0001264Spastic diplegia1AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1300572607245
HP:0001257HP:0002464Spastic dysarthria1AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1300572607245
HP:0001257HP:0002064Spastic gait1AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1300572607245
HP:0001257HP:0011099Spastic hemiparesis1AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1300572607245
HP:0001257HP:0001285Spastic tetraparesis1AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1300572607245
HP:0001257HP:0002510Spastic tetraplegia1AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1300572607245
HP:0001257HP:0002501Spasticity of pharyngeal muscles1AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1300572607245
HP:0001257HP:0006986Upper limb spasticity1AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1300572607245
HP:0001257HP:0002491Spasticity of facial muscles1AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1122575607243
HP:0001257HP:0031866Clasp-knife sign1AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1122575607243
HP:0001257HP:0002061Lower limb spasticity1AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1122575607243
HP:0001257HP:0002179Opisthotonus1AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1122575607243
HP:0001257HP:0002191Progressive spasticity1AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1122575607243
HP:0001257HP:0001264Spastic diplegia1AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1122575607243
HP:0001257HP:0002464Spastic dysarthria1AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1122575607243
HP:0001257HP:0002064Spastic gait1AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1122575607243
HP:0001257HP:0011099Spastic hemiparesis1AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1122575607243
HP:0001257HP:0001285Spastic tetraparesis1AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1122575607243
HP:0001257HP:0002510Spastic tetraplegia1AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1122575607243
HP:0001257HP:0002501Spasticity of pharyngeal muscles1AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1122575607243
HP:0001257HP:0006986Upper limb spasticity1AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1122575607243
HP:0001257HP:0002491Spasticity of facial muscles1ARF1 CL E G H375618185PERIVENTRICULAR NODULAR HETEROTOPIA 8618185OMIM162652103180
HP:0001257HP:0031866Clasp-knife sign1ARF1 CL E G H375618185PERIVENTRICULAR NODULAR HETEROTOPIA 8618185OMIM162652103180
HP:0001257HP:0002061Lower limb spasticity1ARF1 CL E G H375618185PERIVENTRICULAR NODULAR HETEROTOPIA 8618185OMIM162652103180
HP:0001257HP:0002179Opisthotonus1ARF1 CL E G H375618185PERIVENTRICULAR NODULAR HETEROTOPIA 8618185OMIM162652103180
HP:0001257HP:0002191Progressive spasticity1ARF1 CL E G H375618185PERIVENTRICULAR NODULAR HETEROTOPIA 8618185OMIM162652103180
HP:0001257HP:0001264Spastic diplegia1ARF1 CL E G H375618185PERIVENTRICULAR NODULAR HETEROTOPIA 8618185OMIM162652103180
HP:0001257HP:0002464Spastic dysarthria1ARF1 CL E G H375618185PERIVENTRICULAR NODULAR HETEROTOPIA 8618185OMIM162652103180
HP:0001257HP:0002064Spastic gait1ARF1 CL E G H375618185PERIVENTRICULAR NODULAR HETEROTOPIA 8618185OMIM162652103180
HP:0001257HP:0011099Spastic hemiparesis1ARF1 CL E G H375618185PERIVENTRICULAR NODULAR HETEROTOPIA 8618185OMIM162652103180
HP:0001257HP:0001285Spastic tetraparesis1ARF1 CL E G H375618185PERIVENTRICULAR NODULAR HETEROTOPIA 8618185OMIM162652103180
HP:0001257HP:0002510Spastic tetraplegia1ARF1 CL E G H375618185PERIVENTRICULAR NODULAR HETEROTOPIA 8618185OMIM162652103180
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ARF1 CL E G H375618185PERIVENTRICULAR NODULAR HETEROTOPIA 8618185OMIM162652103180
HP:0001257HP:0006986Upper limb spasticity1ARF1 CL E G H375618185PERIVENTRICULAR NODULAR HETEROTOPIA 8618185OMIM162652103180
HP:0001257HP:0002491Spasticity of facial muscles1ARNT2 CL E G H9915615926Webb-Dattani syndrome615926C4014708OMIM111116876606036
HP:0001257HP:0031866Clasp-knife sign1ARNT2 CL E G H9915615926Webb-Dattani syndrome615926C4014708OMIM111116876606036
HP:0001257HP:0002061Lower limb spasticity1ARNT2 CL E G H9915615926Webb-Dattani syndrome615926C4014708OMIM111116876606036
HP:0001257HP:0002179Opisthotonus1ARNT2 CL E G H9915615926Webb-Dattani syndrome615926C4014708OMIM111116876606036
HP:0001257HP:0002191Progressive spasticity1ARNT2 CL E G H9915615926Webb-Dattani syndrome615926C4014708OMIM111116876606036
HP:0001257HP:0001264Spastic diplegia1ARNT2 CL E G H9915615926Webb-Dattani syndrome615926C4014708OMIM111116876606036
HP:0001257HP:0002464Spastic dysarthria1ARNT2 CL E G H9915615926Webb-Dattani syndrome615926C4014708OMIM111116876606036
HP:0001257HP:0002064Spastic gait1ARNT2 CL E G H9915615926Webb-Dattani syndrome615926C4014708OMIM111116876606036
HP:0001257HP:0011099Spastic hemiparesis1ARNT2 CL E G H9915615926Webb-Dattani syndrome615926C4014708OMIM111116876606036
HP:0001257HP:0001285Spastic tetraparesis1ARNT2 CL E G H9915615926Webb-Dattani syndrome615926C4014708OMIM111116876606036
HP:0001257HP:0002510Spastic tetraplegia1ARNT2 CL E G H9915615926Webb-Dattani syndrome615926C4014708OMIM111116876606036
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ARNT2 CL E G H9915615926Webb-Dattani syndrome615926C4014708OMIM111116876606036
HP:0001257HP:0006986Upper limb spasticity1ARNT2 CL E G H9915615926Webb-Dattani syndrome615926C4014708OMIM111116876606036
HP:0001257HP:0002491Spasticity of facial muscles1ARX CL E G H1703022508ORPHA167918060300382
HP:0001257HP:0031866Clasp-knife sign1ARX CL E G H1703022508ORPHA167918060300382
HP:0001257HP:0002061Lower limb spasticity1ARX CL E G H1703022508ORPHA167918060300382
HP:0001257HP:0002179Opisthotonus1ARX CL E G H1703022508ORPHA167918060300382
HP:0001257HP:0002191Progressive spasticity1ARX CL E G H1703022508ORPHA167918060300382
HP:0001257HP:0001264Spastic diplegia1ARX CL E G H1703022508ORPHA167918060300382
HP:0001257HP:0002464Spastic dysarthria1ARX CL E G H1703022508ORPHA167918060300382
HP:0001257HP:0002064Spastic gait1ARX CL E G H1703022508ORPHA167918060300382
HP:0001257HP:0011099Spastic hemiparesis1ARX CL E G H1703022508ORPHA167918060300382
HP:0001257HP:0001285Spastic tetraparesis1ARX CL E G H1703022508ORPHA167918060300382
HP:0001257HP:0002510Spastic tetraplegia1ARX CL E G H1703022508ORPHA167918060300382
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ARX CL E G H1703022508ORPHA167918060300382
HP:0001257HP:0006986Upper limb spasticity1ARX CL E G H1703022508ORPHA167918060300382
HP:0001257HP:0002491Spasticity of facial muscles1ARX CL E G H1703023175ORPHA167918060300382
HP:0001257HP:0031866Clasp-knife sign1ARX CL E G H1703023175ORPHA167918060300382
HP:0001257HP:0002061Lower limb spasticity1ARX CL E G H1703023175ORPHA167918060300382
HP:0001257HP:0002179Opisthotonus1ARX CL E G H1703023175ORPHA167918060300382
HP:0001257HP:0002191Progressive spasticity1ARX CL E G H1703023175ORPHA167918060300382
HP:0001257HP:0001264Spastic diplegia1ARX CL E G H1703023175ORPHA167918060300382
HP:0001257HP:0002464Spastic dysarthria1ARX CL E G H1703023175ORPHA167918060300382
HP:0001257HP:0002064Spastic gait1ARX CL E G H1703023175ORPHA167918060300382
HP:0001257HP:0011099Spastic hemiparesis1ARX CL E G H1703023175ORPHA167918060300382
HP:0001257HP:0001285Spastic tetraparesis1ARX CL E G H1703023175ORPHA167918060300382
HP:0001257HP:0002510Spastic tetraplegia1ARX CL E G H1703023175ORPHA167918060300382
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ARX CL E G H1703023175ORPHA167918060300382
HP:0001257HP:0006986Upper limb spasticity1ARX CL E G H1703023175ORPHA167918060300382
HP:0001257HP:0002491Spasticity of facial muscles1ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM167918060300382
HP:0001257HP:0031866Clasp-knife sign1ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM167918060300382
HP:0001257HP:0002061Lower limb spasticity1