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 failure615889C4014588OMIM154321022612035
HP:0001257HP:0001257Spasticity0ABCC8 CL E G H6833240800Leucine-induced hypoglycemia240800C0271714OMIM1189259600509
HP:0001257HP:0001257Spasticity0ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM152915868613599
HP:0001257HP:0001257Spasticity0ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM17316066617036
HP:0001257HP:0001257Spasticity0ADAM22 CL E G H53616617933Early infantile epileptic encephalopathy 61617933CN244550OMIM189201603709
HP:0001257HP:0001257Spasticity0AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1480315604581
HP:0001257HP:0001257Spasticity0AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1509318613228
HP:0001257HP:0001257Spasticity0ALDH18A1 CL E G H5832616586Spastic paraplegia 9b, autosomal recessive616586C4225272OMIM15869722138250
HP:0001257HP:0001257Spasticity0ALDH3A2 CL E G H224270200Sjögren-Larsson syndrome270200C0037231OMIM1635403609523
HP:0001257HP:0001257Spasticity0ALS2 CL E G H57679300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1947443606352
HP:0001257HP:0001257Spasticity0AMACR CL E G H23600614307Alpha-methylacyl-CoA racemase deficiency614307C3280428OMIM1392451604489
HP:0001257HP:0001257Spasticity0AMPD2 CL E G H271615809Pontocerebellar hypoplasia, type 9615809C4014354OMIM1392469102771
HP:0001257HP:0001257Spasticity0ANG CL E G H283803ORPHA1114483105850
HP:0001257HP:0001257Spasticity0ANG CL E G H283611895Amyotrophic lateral sclerosis type 9611895C2678468OMIM1114483105850
HP:0001257HP:0001257Spasticity0ANK3 CL E G H288615493Mental retardation, autosomal recessive 37615493C3809672OMIM11073494600465
HP:0001257HP:0001257Spasticity0ANXA11 CL E G H311803ORPHA1305535602572
HP:0001257HP:0001257Spasticity0AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0001257HP:0001257Spasticity0AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1403572607245
HP:0001257HP:0001257Spasticity0AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1148575607243
HP:0001257HP:0001257Spasticity0ARF1 CL E G H375618185PERIVENTRICULAR NODULAR HETEROTOPIA 8618185OMIM166652103180
HP:0001257HP:0001257Spasticity0ARNT2 CL E G H9915615926Webb-Dattani syndrome615926C4014708OMIM119416876606036
HP:0001257HP:0001257Spasticity0ARX CL E G H1703022508ORPHA181018060300382
HP:0001257HP:0001257Spasticity0ARX CL E G H1703023175ORPHA181018060300382
HP:0001257HP:0001257Spasticity0ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001257HP:0001257Spasticity0ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM181018060300382
HP:0001257HP:0001257Spasticity0ASPA CL E G H443314911ORPHA1388756608034
HP:0001257HP:0001257Spasticity0ATAD1 CL E G H848963197Lateral body wall defectORPHA118325903614452
HP:0001257HP:0001257Spasticity0ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM139925567612316
HP:0001257HP:0001257Spasticity0ATM CL E G H472100ORPHA114692795607585
HP:0001257HP:0001257Spasticity0ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM197430213610513
HP:0001257HP:0001257Spasticity0ATP6V0A2 CL E G H23545357074ORPHA161018481611716
HP:0001257HP:0001257Spasticity0ATP6V1A CL E G H523357074ORPHA1229851607027
HP:0001257HP:0001257Spasticity0ATP6V1E1 CL E G H529357074ORPHA1196857108746
HP:0001257HP:0001257Spasticity0ATP7A CL E G H538565ORPHA11751869300011
HP:0001257HP:0001257Spasticity0ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11925886300032
HP:0001257HP:0001257Spasticity0ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM112010548601556
HP:0001257HP:0001257Spasticity0ATXN2 CL E G H6311803ORPHA111510555601517
HP:0001257HP:0001257Spasticity0ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM111510555601517
HP:0001257HP:0001257Spasticity0ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0001257HP:0001257Spasticity0ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0001257HP:0001257Spasticity0ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0001257HP:0001257Spasticity0ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM19810560607640
HP:0001257HP:0001257Spasticity0ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0001257HP:0001257Spasticity0ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM18710561603680
HP:0001257HP:0001257Spasticity0B4GAT1 CL E G H11041615287Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13615287C3809042OMIM120515685605517
HP:0001257HP:0001257Spasticity0BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0001257HP:0001257Spasticity0BCL11B CL E G H64919618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES618092CN253429OMIM152513222606558
HP:0001257HP:0001257Spasticity0BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0001257HP:0001257Spasticity0BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM14131020603647
HP:0001257HP:0001257Spasticity0BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM110224415613183
HP:0001257HP:0001257Spasticity0BSCL2 CL E G H26580363400ORPHA151015832606158
HP:0001257HP:0001257Spasticity0BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001257HP:0001257Spasticity0C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM130725443614297
HP:0001257HP:0001257Spasticity0C19orf12 CL E G H83636615043Spastic paraplegia 43, autosomal recessive615043C2680446OMIM130725443614297
HP:0001257HP:0001257Spasticity0C9orf72 CL E G H203228803ORPHA117728337614260
HP:0001257HP:0001257Spasticity0CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM18221394604065
HP:0001257HP:0001257Spasticity0CAMK2A CL E G H815618095MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63618095CN253430OMIM11161460114078
HP:0001257HP:0001257Spasticity0CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM18441497300172
HP:0001257HP:0001257Spasticity0CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1152529253612013
HP:0001257HP:0001257Spasticity0CCNF CL E G H899803ORPHA11511591600227
HP:0001257HP:0001257Spasticity0CDKL5 CL E G H67923095ORPHA1173811411300203
HP:0001257HP:0001257Spasticity0CFAP410 CL E G H755803ORPHA14591260603191
HP:0001257HP:0001257Spasticity0CHCHD10 CL E G H400916803ORPHA129715559615903
HP:0001257HP:0001257Spasticity0CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM12488740164010
HP:0001257HP:0001257Spasticity0CHMP2B CL E G H25978803ORPHA116024537609512
HP:0001257HP:0001257Spasticity0CIT CL E G H11113617090Microcephaly 17, primary, autosomal recessive617090C4310723OMIM15141985605629
HP:0001257HP:0001257Spasticity0CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA116826877616174
HP:0001257HP:0001257Spasticity0CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0001257HP:0001257Spasticity0CLP1 CL E G H10978411493ORPHA19716999608757
HP:0001257HP:0001257Spasticity0CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM19716999608757
HP:0001257HP:0001257Spasticity0CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM158530664616254
HP:0001257HP:0001257Spasticity0CLTC CL E G H1213617854MENTAL RETARDATION, AUTOSOMAL DOMINANT 56617854CN787270OMIM16452092118955
HP:0001257HP:0001257Spasticity0CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM14258011602346
HP:0001257HP:0001257Spasticity0CNTNAP2 CL E G H26047610042Pitt-Hopkins-like syndrome 1610042C2750246OMIM1186713830604569
HP:0001257HP:0001257Spasticity0COL4A1 CL E G H1282175780Porencephaly 1175780CN032791OMIM117852202120130
HP:0001257HP:0001257Spasticity0COL4A2 CL E G H1284614483Porencephaly 2614483C3280970OMIM113712203120090
HP:0001257HP:0001257Spasticity0COPB2 CL E G H9276617800MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE617800C4540488OMIM1992232606990
HP:0001257HP:0001257Spasticity0COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0001257HP:0001257Spasticity0COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0001257HP:0001257Spasticity0CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM16962433164770
HP:0001257HP:0001257Spasticity0CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0001257HP:0001257Spasticity0CTSD CL E G H1509610127Ceroid lipofuscinosis neuronal 10610127C1864669OMIM16692529116840
HP:0001257HP:0001257Spasticity0CYFIP2 CL E G H26999618008EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65618008CN248516OMIM166813760606323
HP:0001257HP:0001257Spasticity0CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0001257HP:0001257Spasticity0CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM19402605606530
HP:0001257HP:0001257Spasticity0DAO CL E G H1610803ORPHA1652671124050
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 Elevation611105C1970180OMIM139725538610956
HP:0001257HP:0001257Spasticity0DCTN1 CL E G H1639803ORPHA110842711601143
HP:0001257HP:0001257Spasticity0DCX CL E G H1641300067Lissencephaly, X-linked300067C1848199OMIM14232714300121
HP:0001257HP:0001257Spasticity0DDX3X CL E G H1654457260ORPHA17452745300160
HP:0001257HP:0001257Spasticity0DENND5A CL E G H23258617281Epileptic encephalopathy, early infantile, 49617281C4310635OMIM146319344617278
HP:0001257HP:0001257Spasticity0DHCR24 CL E G H171835107ORPHA12912859606418
HP:0001257HP:0001257Spasticity0DHCR24 CL E G H1718602398Desmosterolosis602398C1865596OMIM12912859606418
HP:0001257HP:0001257Spasticity0DHDDS CL E G H79947613861Retinitis pigmentosa 59613861C3151227OMIM143420603608172
HP:0001257HP:0001257Spasticity0DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA15202898238331
HP:0001257HP:0001257Spasticity0DNAJC6 CL E G H9829615528Parkinson disease 19a, juvenile-onset615528C3809811OMIM131015469608375
HP:0001257HP:0001257Spasticity0DNMT1 CL E G H1786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant604121C1858804OMIM111962976126375
HP:0001257HP:0001257Spasticity0ECHS1 CL E G H1892616277Mitochondrial short-chain enoyl-coa hydratase 1 deficiency616277C4225391OMIM14313151602292
HP:0001257HP:0001257Spasticity0EED CL E G H87263447ORPHA11293188605984
HP:0001257HP:0001257Spasticity0EIF2B1 CL E G H1967603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11923257606686
HP:0001257HP:0001257Spasticity0EIF2B2 CL E G H8892603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11903258606454
HP:0001257HP:0001257Spasticity0EIF2B3 CL E G H8891603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11813259606273
HP:0001257HP:0001257Spasticity0EIF2B4 CL E G H8890603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM12333260606687
HP:0001257HP:0001257Spasticity0EIF2B5 CL E G H8893603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM15793261603945
HP:0001257HP:0001257Spasticity0ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0001257HP:0001257Spasticity0EML1 CL E G H2009600348Band heterotopia600348C1838239OMIM11703330602033
HP:0001257HP:0001257Spasticity0ENTPD1 CL E G H953401810ORPHA11993363601752
HP:0001257HP:0001257Spasticity0EPHA4 CL E G H2043803ORPHA11933388602188
HP:0001257HP:0001257Spasticity0EPRS CL E G H2058617951LEUKODYSTROPHY, HYPOMYELINATING, 15617951CN244566OMIM13418138295
HP:0001257HP:0001257Spasticity0ERBB4 CL E G H2066803ORPHA14623432600543
HP:0001257HP:0001257Spasticity0ERCC2 CL E G H2068220295ORPHA115723434126340
HP:0001257HP:0001257Spasticity0ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM115723434126340
HP:0001257HP:0001257Spasticity0ERCC3 CL E G H2071220295ORPHA15233435133510
HP:0001257HP:0001257Spasticity0ERCC4 CL E G H2072220295ORPHA17263436133520
HP:0001257HP:0001257Spasticity0ERCC5 CL E G H2073220295ORPHA14913437133530
HP:0001257HP:0001257Spasticity0ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM116453438609413
HP:0001257HP:0001257Spasticity0ERLIN2 CL E G H11160209951ORPHA11911356611605
HP:0001257HP:0001257Spasticity0EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM122717944606489
HP:0001257HP:0001257Spasticity0EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM12609137606180
HP:0001257HP:0001257Spasticity0EZH2 CL E G H21463447ORPHA15383527601573
HP:0001257HP:0001257Spasticity0EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0001257HP:0001257Spasticity0FAR1 CL E G H84188616154Peroxisomal fatty acyl-coa reductase 1 disorder616154C4015344OMIM128226222616107
HP:0001257HP:0001257Spasticity0FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0001257HP:0001257Spasticity0FGFR1 CL E G H22602396ORPHA19363688136350
HP:0001257HP:0001257Spasticity0FIG4 CL E G H9896803ORPHA192616873609390
HP:0001257HP:0001257Spasticity0FOXG1 CL E G H22903095ORPHA17253811164874
HP:0001257HP:0001257Spasticity0FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM17253811164874
HP:0001257HP:0001257Spasticity0FRMPD4 CL E G H9758300983Mental retardation, X-linked 104300983C4310817OMIM145029007300838
HP:0001257HP:0001257Spasticity0FRRS1L CL E G H23732616981Epileptic encephalopathy, early infantile, 37616981C4310770OMIM14021362604574
HP:0001257HP:0001257Spasticity0FTL CL E G H2512606159Neuroferritinopathy606159C1853578OMIM11853999134790
HP:0001257HP:0001257Spasticity0FUS CL E G H2521803ORPHA14744010137070
HP:0001257HP:0001257Spasticity0FUS CL E G H2521300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA14744010137070
HP:0001257HP:0001257Spasticity0GABBR2 CL E G H95683095ORPHA18484507607340
HP:0001257HP:0001257Spasticity0GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM14944082600232
HP:0001257HP:0001257Spasticity0GAN CL E G H8139643ORPHA17774137605379
HP:0001257HP:0001257Spasticity0GBA CL E G H262977260ORPHA14177606463
HP:0001257HP:0001257Spasticity0GBA CL E G H2629230900Acute neuronopathic Gaucher's disease230900C0268250OMIM14177606463
HP:0001257HP:0001257Spasticity0GBE1 CL E G H2632206583ORPHA17844180607839
HP:0001257HP:0001257Spasticity0GCDH CL E G H263925ORPHA17204189608801
HP:0001257HP:0001257Spasticity0GFAP CL E G H2670203450Alexander's disease203450C0270726OMIM14554235137780
HP:0001257HP:0001257Spasticity0GFM1 CL E G H85476609060Combined oxidative phosphorylation deficiency 1609060C1836797OMIM165013780606639
HP:0001257HP:0001257Spasticity0GJA1 CL E G H2697164200Oculodentodigital dysplasia164200C0812437OMIM12724274121014
HP:0001257HP:0001257Spasticity0GLE1 CL E G H2733803ORPHA14754315603371
HP:0001257HP:0001257Spasticity0GLRA1 CL E G H27413197Lateral body wall defectORPHA14474326138491
HP:0001257HP:0001257Spasticity0GLRB CL E G H27433197Lateral body wall defectORPHA13794329138492
HP:0001257HP:0001257Spasticity0GNAO1 CL E G H2775617493Neurodevelopmental disorder with involuntary movements617493C4479569OMIM14294389139311
HP:0001257HP:0001257Spasticity0GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM15274446603048
HP:0001257HP:0001257Spasticity0GPHN CL E G H102433197Lateral body wall defectORPHA1147315465603930
HP:0001257HP:0001257Spasticity0GPT2 CL E G H84706616281Mental retardation, autosomal recessive 49616281C4225388OMIM110918062138210
HP:0001257HP:0001257Spasticity0GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM19294584138249
HP:0001257HP:0001257Spasticity0GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0001257HP:0001257Spasticity0GRIN2B CL E G H2904616139Epileptic encephalopathy, early infantile, 27616139C4015316OMIM113534586138252
HP:0001257HP:0001257Spasticity0GRIN2B CL E G H2904613970Mental retardation, autosomal dominant 6613970C3151411OMIM113534586138252
HP:0001257HP:0001257Spasticity0GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0001257HP:0001257Spasticity0GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0001257HP:0001257Spasticity0GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM11474670607434
HP:0001257HP:0001257Spasticity0GUF1 CL E G H60558617065Epileptic encephalopathy, early infantile, 40617065C4310737OMIM130925799617064
HP:0001257HP:0001257Spasticity0HEPACAM CL E G H220296604004Megalencephalic leukoencephalopathy with subcortical cysts 1604004C1858854OMIM130426361611642
HP:0001257HP:0001257Spasticity0HEPACAM CL E G H220296613925Megalencephalic leukoencephalopathy with subcortical cysts 2a613925C3151355OMIM130426361611642
HP:0001257HP:0001257Spasticity0HIKESHI CL E G H51501616881Leukodystrophy, hypomyelinating, 13616881C4225170OMIM17626938614908
HP:0001257HP:0001257Spasticity0HMGCL CL E G H3155246450Deficiency of hydroxymethylglutaryl-CoA lyase246450C0268601OMIM14205005613898
HP:0001257HP:0001257Spasticity0HNRNPA1 CL E G H3178803ORPHA1805031164017
HP:0001257HP:0001257Spasticity0HPRT1 CL E G H3251510ORPHA13545157308000
HP:0001257HP:0001257Spasticity0HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0001257HP:0001257Spasticity0HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM12859476602194
HP:0001257HP:0001257Spasticity0HTT CL E G H306439946,XX testicular disorder of sex developmentC2936420ORPHA17604851613004
HP:0001257HP:0001257Spasticity0HTT CL E G H3064617435Lopes-Maciel-Rodan syndrome617435C4479491OMIM17604851613004
HP:0001257HP:0001257Spasticity0IKBKG CL E G H8517308300Incontinentia pigmenti syndrome308300C0021171OMIM13875961300248
HP:0001257HP:0001257Spasticity0INPP5K CL E G H51763559ORPHA118733882607875
HP:0001257HP:0001257Spasticity0IRF2BPL CL E G H64207618088NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES618088CN252701OMIM131214282611720
HP:0001257HP:0001257Spasticity0ISCA1 CL E G H81689617613MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5617613C4539919OMIM16028660611006
HP:0001257HP:0001257Spasticity0ISCA2 CL E G H122961616370Multiple mitochondrial dysfunctions syndrome 4616370C4225348OMIM18319857615317
HP:0001257HP:0001257Spasticity0ITM2B CL E G H9445176500Dementia familial British176500C1867773OMIM11776174603904
HP:0001257HP:0001257Spasticity0ITM2B CL E G H9445117300Dementia, familial Danish117300C1861735OMIM11776174603904
HP:0001257HP:0001257Spasticity0JAM3 CL E G H83700613730Hemorrhagic destruction of the brain, subependymal calcification, and cataracts613730C3151000OMIM126515532606871
HP:0001257HP:0001257Spasticity0KCNT1 CL E G H57582614959Early infantile epileptic encephalopathy 14614959C3554195OMIM1200018865608167
HP:0001257HP:0001257Spasticity0KDM5C CL E G H824285279ORPHA175611114314690
HP:0001257HP:0001257Spasticity0KIF1C CL E G H10749397946ORPHA15796317603060
HP:0001257HP:0001257Spasticity0KIF1C CL E G H10749611302Ataxia, spastic, 2, autosomal recessive611302C1969796OMIM15796317603060
HP:0001257HP:0001257Spasticity0KRAS CL E G H38452396ORPHA14806407190070
HP:0001257HP:0001257Spasticity0L1CAM CL E G H38972182ORPHA19686470308840
HP:0001257HP:0001257Spasticity0L1CAM CL E G H38971497Congenital mixovirusORPHA19686470308840
HP:0001257HP:0001257Spasticity0L1CAM CL E G H3897304100Corpus callosum, partial agenesis of, X-linked304100C1839909OMIM19686470308840
HP:0001257HP:0001257Spasticity0L1CAM CL E G H3897307000X-linked hydrocephalus syndrome307000C0265216OMIM19686470308840
HP:0001257HP:0001257Spasticity0LAGE3 CL E G H8270301006GALLOWAY-MOWAT SYNDROME 2, X-LINKED301006C4538784OMIM127026058300060
HP:0001257HP:0001257Spasticity0LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0001257HP:0001257Spasticity0LMNB1 CL E G H400199027ORPHA12416637150340
HP:0001257HP:0001257Spasticity0LMNB1 CL E G H4001169500Leukodystrophy, adult-onset, autosomal dominant169500C1868512OMIM12416637150340
HP:0001257HP:0001257Spasticity0MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM113516826609458
HP:0001257HP:0001257Spasticity0MARS2 CL E G H92935611390Ataxia, spastic, 3, autosomal recessive611390C1969645OMIM120425133609728
HP:0001257HP:0001257Spasticity0MATR3 CL E G H9782803ORPHA14506912164015
HP:0001257HP:0001257Spasticity0MECP2 CL E G H4204778ORPHA119256990300005
HP:0001257HP:0001257Spasticity0MECP2 CL E G H42043095ORPHA119256990300005
HP:0001257HP:0001257Spasticity0MECP2 CL E G H4204312750Rett syndrome312750C0035372OMIM119256990300005
HP:0001257HP:0001257Spasticity0MED17 CL E G H9440613668Microcephaly, postnatal progressive, with seizures and brain atrophy613668C3150921OMIM14662375603810
HP:0001257HP:0001257Spasticity0MED25 CL E G H81857616449Basel-Vanagaite-Smirin-Yosef syndrome616449C4225323OMIM166628845610197
HP:0001257HP:0001257Spasticity0MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM115524858614785
HP:0001257HP:0001257Spasticity0MLC1 CL E G H23209604004Megalencephalic leukoencephalopathy with subcortical cysts 1604004C1858854OMIM167717082605908
HP:0001257HP:0001257Spasticity0MRPS34 CL E G H65993617664COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32617664C4540029OMIM113816618611994
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 27618248OMIM124329666611766
HP:0001257HP:0001257Spasticity0NACC1 CL E G H112939617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination617393C4479333OMIM134120967610672
HP:0001257HP:0001257Spasticity0NADK2 CL E G H1336866160342,4-Dienoyl-CoA reductase deficiency616034C1857252OMIM122126404615787
HP:0001257HP:0001257Spasticity0NAGA CL E G H466879279ORPHA12307631104170
HP:0001257HP:0001257Spasticity0NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM12307631104170
HP:0001257HP:0001257Spasticity0NARS2 CL E G H79731616239Combined oxidative phosphorylation deficiency 24616239C4015643OMIM130226274612803
HP:0001257HP:0001257Spasticity0NDUFA6 CL E G H4700618253MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33618253OMIM1907690602138
HP:0001257HP:0001257Spasticity0NDUFAF5 CL E G H79133618238MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16618238OMIM138315899612360
HP:0001257HP:0001257Spasticity0NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0001257HP:0001257Spasticity0NDUFV2 CL E G H4729618229MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7618229OMIM12297717600532
HP:0001257HP:0001257Spasticity0NEFH CL E G H4744803ORPHA17147737162230
HP:0001257HP:0001257Spasticity0NEK1 CL E G H4750803ORPHA16797744604588
HP:0001257HP:0001257Spasticity0NEXMIF CL E G H340533300912Mental retardation, X-linked 98300912C3806730OMIM199029433300524
HP:0001257HP:0001257Spasticity0NKX6-2 CL E G H84504617560SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY617560C4479653OMIM123319321605955
HP:0001257HP:0001257Spasticity0NOTCH3 CL E G H4854136ORPHA113437883600276
HP:0001257HP:0001257Spasticity0NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM121097897607623
HP:0001257HP:0001257Spasticity0NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM123214537601015
HP:0001257HP:0001257Spasticity0NSD1 CL E G H643243447ORPHA1173414234606681
HP:0001257HP:0001257Spasticity0NSUN2 CL E G H54888611091Mental retardation, autosomal recessive 5611091C1970199OMIM156625994610916
HP:0001257HP:0001257Spasticity0NTNG1 CL E G H228543095ORPHA15723319608818
HP:0001257HP:0001257Spasticity0NUBPL CL E G H80224618242MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21618242OMIM128420278613621
HP:0001257HP:0001257Spasticity0NUP62 CL E G H23636271930Striatonigral degeneration infantile271930C0795996OMIM11618066605815
HP:0001257HP:0001257Spasticity0NUS1 CL E G H116150617082CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa617082C4310727OMIM132621042610463
HP:0001257HP:0001257Spasticity0OCLN CL E G H1005066581229ORPHA11388104602876
HP:0001257HP:0001257Spasticity0OCLN CL E G H100506658251290Band-like calcification with simplified gyration and polymicrogyria251290C3489725OMIM11388104602876
HP:0001257HP:0001257Spasticity0OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM15238142606580
HP:0001257HP:0001257Spasticity0OPHN1 CL E G H4983300486Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance300486C1845366OMIM14758148300127
HP:0001257HP:0001257Spasticity0OPTN CL E G H10133803ORPHA142817142602432
HP:0001257HP:0001257Spasticity0OSGEP CL E G H55644617729GALLOWAY-MOWAT SYNDROME 3617729C4540266OMIM115218028610107
HP:0001257HP:0001257Spasticity0PANK2 CL E G H80025216873ORPHA149915894606157
HP:0001257HP:0001257Spasticity0PANK2 CL E G H80025607236Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration607236C1846582OMIM149915894606157
HP:0001257HP:0001257Spasticity0PANK2 CL E G H80025234200Pigmentary pallidal degeneration234200C0018523OMIM149915894606157
HP:0001257HP:0001257Spasticity0PCLO CL E G H27445608027Pontocerebellar hypoplasia type 3608027C1842687OMIM1243013406604918
HP:0001257HP:0001257Spasticity0PEX1 CL E G H5189772ORPHA115378850602136
HP:0001257HP:0001257Spasticity0PEX10 CL E G H5192772ORPHA18038851602859
HP:0001257HP:0001257Spasticity0PEX11B CL E G H8799772ORPHA14158853603867
HP:0001257HP:0001257Spasticity0PEX12 CL E G H5193772ORPHA14598854601758
HP:0001257HP:0001257Spasticity0PEX13 CL E G H5194772ORPHA14978855601789
HP:0001257HP:0001257Spasticity0PEX14 CL E G H5195772ORPHA14748856601791
HP:0001257HP:0001257Spasticity0PEX16 CL E G H9409772ORPHA14708857603360
HP:0001257HP:0001257Spasticity0PEX19 CL E G H5824772ORPHA13799713600279
HP:0001257HP:0001257Spasticity0PEX2 CL E G H5828772ORPHA14639717170993
HP:0001257HP:0001257Spasticity0PEX26 CL E G H55670772ORPHA152222965608666
HP:0001257HP:0001257Spasticity0PEX3 CL E G H8504772ORPHA13588858603164
HP:0001257HP:0001257Spasticity0PEX5 CL E G H5830772ORPHA18589719600414
HP:0001257HP:0001257Spasticity0PEX6 CL E G H5190772ORPHA114588859601498
HP:0001257HP:0001257Spasticity0PEX7 CL E G H5191215100Rhizomelic chondrodysplasia punctata type 1215100C1859133OMIM15508860601757
HP:0001257HP:0001257Spasticity0PFN1 CL E G H5216803ORPHA11018881176610
HP:0001257HP:0001257Spasticity0PFN1 CL E G H5216614808Amyotrophic lateral sclerosis 18614808C3553719OMIM11018881176610
HP:0001257HP:0001257Spasticity0PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM14838957311770
HP:0001257HP:0001257Spasticity0PIGN CL E G H23556614080Multiple congenital anomalies-hypotonia-seizures syndrome 1614080C3279775OMIM110108967606097
HP:0001257HP:0001257Spasticity0PLA2G6 CL E G H8398199351ORPHA17759039603604
HP:0001257HP:0001257Spasticity0PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001257HP:0001257Spasticity0PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM17759039603604
HP:0001257HP:0001257Spasticity0PLCB1 CL E G H23236613722Early infantile epileptic encephalopathy 12613722C3150988OMIM1110715917607120
HP:0001257HP:0001257Spasticity0PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM120518667613036
HP:0001257HP:0001257Spasticity0PMPCB CL E G H9512617954MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6617954CN244567OMIM11339119603131
HP:0001257HP:0001257Spasticity0PNPLA8 CL E G H50640251950Mitochondrial myopathy with lactic acidosis251950C1855033OMIM127128900612123
HP:0001257HP:0001257Spasticity0POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM1102530074614258
HP:0001257HP:0001257Spasticity0POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM151030348614366
HP:0001257HP:0001257Spasticity0POLR3B CL E G H55703614381Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism614381C3280644OMIM151030348614366
HP:0001257HP:0001257Spasticity0POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM1117419139606822
HP:0001257HP:0001257Spasticity0PON1 CL E G H5444803ORPHA1659204168820
HP:0001257HP:0001257Spasticity0PON2 CL E G H5445803ORPHA1689205602447
HP:0001257HP:0001257Spasticity0PON3 CL E G H5446803ORPHA1629206602720
HP:0001257HP:0001257Spasticity0PPARGC1A CL E G H10891803ORPHA1719237604517
HP:0001257HP:0001257Spasticity0PPP1R15B CL E G H84919616817Microcephaly, short stature, and impaired glucose metabolism 2616817C4225195OMIM113414951613257
HP:0001257HP:0001257Spasticity0PPT1 CL E G H5538256730Ceroid lipofuscinosis neuronal 1256730C1850451OMIM16179325600722
HP:0001257HP:0001257Spasticity0PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM13099330300463
HP:0001257HP:0001257Spasticity0PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11919449176640
HP:0001257HP:0001257Spasticity0PRPH CL E G H5630803ORPHA1769461170710
HP:0001257HP:0001257Spasticity0PUM1 CL E G H9698617931SPINOCEREBELLAR ATAXIA 47617931CN244564OMIM117514957607204
HP:0001257HP:0001257Spasticity0PYCR2 CL E G H29920616420Leukodystrophy, hypomyelinating, 10616420C4225332OMIM114330262616406
HP:0001257HP:0001257Spasticity0RAB11B CL E G H9230617807NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER617807C4540498OMIM11619761604198
HP:0001257HP:0001257Spasticity0RAB18 CL E G H229312510ORPHA119114244602207
HP:0001257HP:0001257Spasticity0RAB27A CL E G H5873607624Griscelli syndrome type 2607624C1868679OMIM12989766603868
HP:0001257HP:0001257Spasticity0RAB3GAP1 CL E G H229302510ORPHA145917063602536
HP:0001257HP:0001257Spasticity0RAB3GAP2 CL E G H257822510ORPHA167117168609275
HP:0001257HP:0001257Spasticity0RAD50 CL E G H10111613078Nijmegen breakage syndrome-like disorder613078C2751318OMIM140049816604040
HP:0001257HP:0001257Spasticity0RARS CL E G H5917616140Leukodystrophy, hypomyelinating, 9616140C4015323OMIM19870107820
HP:0001257HP:0001257Spasticity0REPS1 CL E G H85021617916NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7617916CN895590OMIM115615578614825
HP:0001257HP:0001257Spasticity0RETREG1 CL E G H54463613115Hereditary sensory and autonomic neuropathy type IIB613115C2751092OMIM152325964613114
HP:0001257HP:0001257Spasticity0RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0001257HP:0001257Spasticity0RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM150530220611908
HP:0001257HP:0001257Spasticity0RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM122313429300379
HP:0001257HP:0001257Spasticity0RNASEH2A CL E G H10535610333Aicardi Goutieres syndrome 4610333C1835912OMIM140418518606034
HP:0001257HP:0001257Spasticity0RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM130724116610330
HP:0001257HP:0001257Spasticity0RNU4ATAC CL E G H1001516832636Hemihypertrophy intestinal web corneal opacityORPHA126134016601428
HP:0001257HP:0001257Spasticity0ROGDI CL E G H796411946ORPHA156029478614574
HP:0001257HP:0001257Spasticity0ROGDI CL E G H79641226750Kohlschutter's syndrome226750C0406740OMIM156029478614574
HP:0001257HP:0001257Spasticity0RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM1149429168610937
HP:0001257HP:0001257Spasticity0RPIA CL E G H22934608611Deficiency of ribose-5-phosphate isomerase608611C1291609OMIM111210297180430
HP:0001257HP:0001257Spasticity0RUSC2 CL E G H9853617773MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61617773C4540424OMIM182423625611053
HP:0001257HP:0001257Spasticity0SACS CL E G H26278270550Spastic ataxia Charlevoix-Saguenay type270550C1849140OMIM1337710519604490
HP:0001257HP:0001257Spasticity0SAMHD1 CL E G H25939612952Aicardi Goutieres syndrome 5612952C2749659OMIM174615925606754
HP:0001257HP:0001257Spasticity0SCN1B CL E G H6324617350Epileptic encephalopathy, early infantile, 52617350C4479236OMIM151110586600235
HP:0001257HP:0001257Spasticity0SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0001257HP:0001257Spasticity0SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1250310680600857
HP:0001257HP:0001257Spasticity0SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM17733867612848
HP:0001257HP:0001257Spasticity0SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM168610683602690
HP:0001257HP:0001257Spasticity0SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0001257HP:0001257Spasticity0SIGMAR1 CL E G H10280614373Amyotrophic lateral sclerosis 16, juvenile614373C3280587OMIM12478157601978
HP:0001257HP:0001257Spasticity0SIGMAR1 CL E G H10280300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA12478157601978
HP:0001257HP:0001257Spasticity0SIL1 CL E G H64374559ORPHA135224624608005
HP:0001257HP:0001257Spasticity0SIL1 CL E G H64374248800Marinesco-Sjögren syndrome248800C0024814OMIM135224624608005
HP:0001257HP:0001257Spasticity0SLC13A5 CL E G H2841111946ORPHA168523089608305
HP:0001257HP:0001257Spasticity0SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0001257HP:0001257Spasticity0SLC17A5 CL E G H26503604369Salla disease604369C1096903OMIM152010933604322
HP:0001257HP:0001257Spasticity0SLC25A12 CL E G H8604612949Hypomyelination, global cerebral612949C2751855OMIM145110982603667
HP:0001257HP:0001257Spasticity0SLC25A22 CL E G H79751609304Early myoclonic encephalopathy609304C0270855OMIM155119954609302
HP:0001257HP:0001257Spasticity0SLC2A1 CL E G H651371277ORPHA196511005138140
HP:0001257HP:0001257Spasticity0SLC2A1 CL E G H6513606777GLUT1 deficiency syndrome 1606777CN030711OMIM196511005138140
HP:0001257HP:0001257Spasticity0SLC2A1 CL E G H6513608885Stomatin-deficient cryohydrocytosis with neurologic defects608885C1837206OMIM196511005138140
HP:0001257HP:0001257Spasticity0SLC2A3 CL E G H651539946,XX testicular disorder of sex developmentC2936420ORPHA19011007138170
HP:0001257HP:0001257Spasticity0SLC39A14 CL E G H23516617013Hypermanganesemia with dystonia 2617013C4310765OMIM127020858608736
HP:0001257HP:0001257Spasticity0SLC6A5 CL E G H91523197Lateral body wall defectORPHA171811051604159
HP:0001257HP:0001257Spasticity0SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM1106211055300036
HP:0001257HP:0001257Spasticity0SMPD1 CL E G H6609257200Niemann-Pick disease, type A257200C0268242OMIM186411120607608
HP:0001257HP:0001257Spasticity0SNCA CL E G H6622171695ORPHA119311138163890
HP:0001257HP:0001257Spasticity0SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM118932952616663
HP:0001257HP:0001257Spasticity0SNX14 CL E G H57231616354Spinocerebellar ataxia, autosomal recessive 20616354C4225355OMIM127014977616105
HP:0001257HP:0001257Spasticity0SOD1 CL E G H6647803ORPHA129411179147450
HP:0001257HP:0001257Spasticity0SOD1 CL E G H6647105400Amyotrophic lateral sclerosis type 1105400C1862939OMIM129411179147450
HP:0001257HP:0001257Spasticity0SOX10 CL E G H6663163746ORPHA137811190602229
HP:0001257HP:0001257Spasticity0SPATA5 CL E G H166378616577Epilepsy, hearing loss, and mental retardation syndrome616577C4225276OMIM118119613940
HP:0001257HP:0001257Spasticity0SPG11 CL E G H80208602099Amyotrophic lateral sclerosis type 5602099C1865864OMIM1262511226610844
HP:0001257HP:0001257Spasticity0SPG11 CL E G H80208300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1262511226610844
HP:0001257HP:0001257Spasticity0SPG21 CL E G H51324101001ORPHA116220373608181
HP:0001257HP:0001257Spasticity0SPR CL E G H6697612716Sepiapterin reductase deficiency612716C0268468OMIM119811257182125
HP:0001257HP:0001257Spasticity0SQSTM1 CL E G H8878803ORPHA167711280601530
HP:0001257HP:0001257Spasticity0STN1 CL E G H79991617341Cerebroretinal microangiopathy with calcifications and cysts 2617341C4479220OMIM122526200613128
HP:0001257HP:0001257Spasticity0STXBP1 CL E G H68123095ORPHA1101711444602926
HP:0001257HP:0001257Spasticity0SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0001257HP:0001257Spasticity0SUMF1 CL E G H285362272200Multiple sulfatase deficiency272200C0268263OMIM174620376607939
HP:0001257HP:0001257Spasticity0SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0001257HP:0001257Spasticity0SUZ12 CL E G H235123447ORPHA113917101606245
HP:0001257HP:0001257Spasticity0TAF15 CL E G H8148803ORPHA112511547601574
HP:0001257HP:0001257Spasticity0TAF2 CL E G H6873615599Mental retardation, autosomal recessive 40615599C3810080OMIM127111536604912
HP:0001257HP:0001257Spasticity0TARDBP CL E G H23435803ORPHA130911571605078
HP:0001257HP:0001257Spasticity0TARDBP CL E G H23435612069Amyotrophic lateral sclerosis type 10612069C2677565OMIM130911571605078
HP:0001257HP:0001257Spasticity0TBC1D20 CL E G H1286372510ORPHA119516133611663
HP:0001257HP:0001257Spasticity0TBK1 CL E G H29110803ORPHA138211584604834
HP:0001257HP:0001257Spasticity0TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0001257HP:0001257Spasticity0TBP CL E G H690898759ORPHA113111588600075
HP:0001257HP:0001257Spasticity0TCTN2 CL E G H79867616654Joubert syndrome 24616654C4084841OMIM162225774613846
HP:0001257HP:0001257Spasticity0TELO2 CL E G H9894616954You-Hoover-Fong syndrome616954C4310778OMIM140529099611140
HP:0001257HP:0001257Spasticity0TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0001257HP:0001257Spasticity0TMEM231 CL E G H795832752ORPHA146337234614949
HP:0001257HP:0001257Spasticity0TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM192828396609884
HP:0001257HP:0001257Spasticity0TMTC3 CL E G H160418617255Lissencephaly 8617255C4310646OMIM119226899617218
HP:0001257HP:0001257Spasticity0TP53RK CL E G H112858617730GALLOWAY-MOWAT SYNDROME 4617730C4540270OMIM17016197608679
HP:0001257HP:0001257Spasticity0TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM118112009190450
HP:0001257HP:0001257Spasticity0TPK1 CL E G H27010614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)614458C3280866OMIM131817358606370
HP:0001257HP:0001257Spasticity0TPRKB CL E G H51002617731GALLOWAY-MOWAT SYNDROME 5617731C4540274OMIM14624259608680
HP:0001257HP:0001257Spasticity0TRAK1 CL E G H22906618201EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68618201OMIM120829947608112
HP:0001257HP:0001257Spasticity0TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM120224284614139
HP:0001257HP:0001257Spasticity0TREM2 CL E G H54209803ORPHA115417761605086
HP:0001257HP:0001257Spasticity0TREM2 CL E G H542092770ORPHA115417761605086
HP:0001257HP:0001257Spasticity0TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM141812269606609
HP:0001257HP:0001257Spasticity0TRIT1 CL E G H54802617873COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35617873CN807948OMIM111320286617840
HP:0001257HP:0001257Spasticity0TRMT5 CL E G H57570616539Combined oxidative phosphorylation deficiency 26616539C4225290OMIM122023141611023
HP:0001257HP:0001257Spasticity0TSEN54 CL E G H283989225753Pontocerebellar hypoplasia type 4225753C1856974OMIM141427561608755
HP:0001257HP:0001257Spasticity0TTR CL E G H7276105210Amyloidogenic transthyretin amyloidosis105210C2751492OMIM137712405176300
HP:0001257HP:0001257Spasticity0TUBB3 CL E G H10381614039Cortical dysplasia, complex, with other brain malformations 1614039C3808397OMIM132020772602661
HP:0001257HP:0001257Spasticity0TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM127220774602662
HP:0001257HP:0001257Spasticity0TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM17617772609063
HP:0001257HP:0001257Spasticity0TYROBP CL E G H73052770ORPHA111012449604142
HP:0001257HP:0001257Spasticity0TYROBP CL E G H7305221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy221770C1857316OMIM111012449604142
HP:0001257HP:0001257Spasticity0UBA5 CL E G H79876617132Epileptic encephalopathy, early infantile, 44617132C4310700OMIM122323230610552
HP:0001257HP:0001257Spasticity0UBQLN2 CL E G H29978803ORPHA127312509300264
HP:0001257HP:0001257Spasticity0UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM18412511600673
HP:0001257HP:0001257Spasticity0UFC1 CL E G H51506618076NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH618076CN252685OMIM13326941610554
HP:0001257HP:0001257Spasticity0UFM1 CL E G H51569617899LEUKODYSTROPHY, HYPOMYELINATING, 14617899CN845004OMIM17720597610553
HP:0001257HP:0001257Spasticity0UNC13A CL E G H23025803ORPHA114023150609894
HP:0001257HP:0001257Spasticity0UNC80 CL E G H285175616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 2616801C4225203OMIM1181626582612636
HP:0001257HP:0001257Spasticity0VAPB CL E G H9217803ORPHA135912649605704
HP:0001257HP:0001257Spasticity0VCP CL E G H7415803ORPHA160712666601023
HP:0001257HP:0001257Spasticity0VPS11 CL E G H55823466934ORPHA122814583608549
HP:0001257HP:0001257Spasticity0VPS11 CL E G H55823616683Leukodystrophy, hypomyelinating, 12616683C4225247OMIM122814583608549
HP:0001257HP:0001257Spasticity0VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0001257HP:0001257Spasticity0WDR73 CL E G H8494283472ORPHA122025928616144
HP:0001257HP:0001257Spasticity0WWOX CL E G H51741616211Epileptic encephalopathy, early infantile, 28616211C4015519OMIM1110212799605131
HP:0001257HP:0001257Spasticity0XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM132112814611153
HP:0001257HP:0001257Spasticity0ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM127924931300897
HP:0001257HP:0001257Spasticity0ZNF335 CL E G H63925615095Primary autosomal recessive microcephaly 10615095C3554499OMIM150715807610827
HP:0001257HP:0001257Spasticity0ZNF592 CL E G H964083472ORPHA112828986613624
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 failure615889C4014588OMIM154321022612035
HP:0001257HP:0031866Clasp-knife sign1AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM154321022612035
HP:0001257HP:0002061Lower limb spasticity1AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM154321022612035
HP:0001257HP:0002179Opisthotonus1AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM154321022612035
HP:0001257HP:0002191Progressive spasticity1AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM154321022612035
HP:0001257HP:0001264Spastic diplegia1AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM154321022612035
HP:0001257HP:0002464Spastic dysarthria1AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM154321022612035
HP:0001257HP:0002064Spastic gait1AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM154321022612035
HP:0001257HP:0011099Spastic hemiparesis1AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM154321022612035
HP:0001257HP:0001285Spastic tetraparesis1AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM154321022612035
HP:0001257HP:0002510Spastic tetraplegia1AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM154321022612035
HP:0001257HP:0002501Spasticity of pharyngeal muscles1AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM154321022612035
HP:0001257HP:0006986Upper limb spasticity1AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM154321022612035
HP:0001257HP:0002491Spasticity of facial muscles1ABCC8 CL E G H6833240800Leucine-induced hypoglycemia240800C0271714OMIM1189259600509
HP:0001257HP:0031866Clasp-knife sign1ABCC8 CL E G H6833240800Leucine-induced hypoglycemia240800C0271714OMIM1189259600509
HP:0001257HP:0002061Lower limb spasticity1ABCC8 CL E G H6833240800Leucine-induced hypoglycemia240800C0271714OMIM1189259600509
HP:0001257HP:0002179Opisthotonus1ABCC8 CL E G H6833240800Leucine-induced hypoglycemia240800C0271714OMIM1189259600509
HP:0001257HP:0002191Progressive spasticity1ABCC8 CL E G H6833240800Leucine-induced hypoglycemia240800C0271714OMIM1189259600509
HP:0001257HP:0001264Spastic diplegia1ABCC8 CL E G H6833240800Leucine-induced hypoglycemia240800C0271714OMIM1189259600509
HP:0001257HP:0002464Spastic dysarthria1ABCC8 CL E G H6833240800Leucine-induced hypoglycemia240800C0271714OMIM1189259600509
HP:0001257HP:0002064Spastic gait1ABCC8 CL E G H6833240800Leucine-induced hypoglycemia240800C0271714OMIM1189259600509
HP:0001257HP:0011099Spastic hemiparesis1ABCC8 CL E G H6833240800Leucine-induced hypoglycemia240800C0271714OMIM1189259600509
HP:0001257HP:0001285Spastic tetraparesis1ABCC8 CL E G H6833240800Leucine-induced hypoglycemia240800C0271714OMIM1189259600509
HP:0001257HP:0002510Spastic tetraplegia1ABCC8 CL E G H6833240800Leucine-induced hypoglycemia240800C0271714OMIM1189259600509
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ABCC8 CL E G H6833240800Leucine-induced hypoglycemia240800C0271714OMIM1189259600509
HP:0001257HP:0006986Upper limb spasticity1ABCC8 CL E G H6833240800Leucine-induced hypoglycemia240800C0271714OMIM1189259600509
HP:0001257HP:0002491Spasticity of facial muscles1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM152915868613599
HP:0001257HP:0031866Clasp-knife sign1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM152915868613599
HP:0001257HP:0002061Lower limb spasticity1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM152915868613599
HP:0001257HP:0002179Opisthotonus1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM152915868613599
HP:0001257HP:0002191Progressive spasticity1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM152915868613599
HP:0001257HP:0001264Spastic diplegia1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM152915868613599
HP:0001257HP:0002464Spastic dysarthria1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM152915868613599
HP:0001257HP:0002064Spastic gait1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM152915868613599
HP:0001257HP:0011099Spastic hemiparesis1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM152915868613599
HP:0001257HP:0001285Spastic tetraparesis1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM152915868613599
HP:0001257HP:0002510Spastic tetraplegia1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM152915868613599
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM152915868613599
HP:0001257HP:0006986Upper limb spasticity1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM152915868613599
HP:0001257HP:0002491Spasticity of facial muscles1ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM17316066617036
HP:0001257HP:0031866Clasp-knife sign1ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM17316066617036
HP:0001257HP:0002061Lower limb spasticity1ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM17316066617036
HP:0001257HP:0002179Opisthotonus1ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM17316066617036
HP:0001257HP:0002191Progressive spasticity1ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM17316066617036
HP:0001257HP:0001264Spastic diplegia1ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM17316066617036
HP:0001257HP:0002464Spastic dysarthria1ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM17316066617036
HP:0001257HP:0002064Spastic gait1ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM17316066617036
HP:0001257HP:0011099Spastic hemiparesis1ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM17316066617036
HP:0001257HP:0001285Spastic tetraparesis1ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM17316066617036
HP:0001257HP:0002510Spastic tetraplegia1ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM17316066617036
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM17316066617036
HP:0001257HP:0006986Upper limb spasticity1ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM17316066617036
HP:0001257HP:0002491Spasticity of facial muscles1ADAM22 CL E G H53616617933Early infantile epileptic encephalopathy 61617933CN244550OMIM189201603709
HP:0001257HP:0031866Clasp-knife sign1ADAM22 CL E G H53616617933Early infantile epileptic encephalopathy 61617933CN244550OMIM189201603709
HP:0001257HP:0002061Lower limb spasticity1ADAM22 CL E G H53616617933Early infantile epileptic encephalopathy 61617933CN244550OMIM189201603709
HP:0001257HP:0002179Opisthotonus1ADAM22 CL E G H53616617933Early infantile epileptic encephalopathy 61617933CN244550OMIM189201603709
HP:0001257HP:0002191Progressive spasticity1ADAM22 CL E G H53616617933Early infantile epileptic encephalopathy 61617933CN244550OMIM189201603709
HP:0001257HP:0001264Spastic diplegia1ADAM22 CL E G H53616617933Early infantile epileptic encephalopathy 61617933CN244550OMIM189201603709
HP:0001257HP:0002464Spastic dysarthria1ADAM22 CL E G H53616617933Early infantile epileptic encephalopathy 61617933CN244550OMIM189201603709
HP:0001257HP:0002064Spastic gait1ADAM22 CL E G H53616617933Early infantile epileptic encephalopathy 61617933CN244550OMIM189201603709
HP:0001257HP:0011099Spastic hemiparesis1ADAM22 CL E G H53616617933Early infantile epileptic encephalopathy 61617933CN244550OMIM189201603709
HP:0001257HP:0001285Spastic tetraparesis1ADAM22 CL E G H53616617933Early infantile epileptic encephalopathy 61617933CN244550OMIM189201603709
HP:0001257HP:0002510Spastic tetraplegia1ADAM22 CL E G H53616617933Early infantile epileptic encephalopathy 61617933CN244550OMIM189201603709
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ADAM22 CL E G H53616617933Early infantile epileptic encephalopathy 61617933CN244550OMIM189201603709
HP:0001257HP:0006986Upper limb spasticity1ADAM22 CL E G H53616617933Early infantile epileptic encephalopathy 61617933CN244550OMIM189201603709
HP:0001257HP:0002491Spasticity of facial muscles1AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1480315604581
HP:0001257HP:0031866Clasp-knife sign1AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1480315604581
HP:0001257HP:0002061Lower limb spasticity1AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1480315604581
HP:0001257HP:0002179Opisthotonus1AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1480315604581
HP:0001257HP:0002191Progressive spasticity1AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1480315604581
HP:0001257HP:0001264Spastic diplegia1AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1480315604581
HP:0001257HP:0002464Spastic dysarthria1AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1480315604581
HP:0001257HP:0002064Spastic gait1AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1480315604581
HP:0001257HP:0011099Spastic hemiparesis1AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1480315604581
HP:0001257HP:0001285Spastic tetraparesis1AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1480315604581
HP:0001257HP:0002510Spastic tetraplegia1AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1480315604581
HP:0001257HP:0002501Spasticity of pharyngeal muscles1AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1480315604581
HP:0001257HP:0006986Upper limb spasticity1AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1480315604581
HP:0001257HP:0002491Spasticity of facial muscles1AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1509318613228
HP:0001257HP:0031866Clasp-knife sign1AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1509318613228
HP:0001257HP:0002061Lower limb spasticity1AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1509318613228
HP:0001257HP:0002179Opisthotonus1AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1509318613228
HP:0001257HP:0002191Progressive spasticity1AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1509318613228
HP:0001257HP:0001264Spastic diplegia1AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1509318613228
HP:0001257HP:0002464Spastic dysarthria1AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1509318613228
HP:0001257HP:0002064Spastic gait1AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1509318613228
HP:0001257HP:0011099Spastic hemiparesis1AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1509318613228
HP:0001257HP:0001285Spastic tetraparesis1AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1509318613228
HP:0001257HP:0002510Spastic tetraplegia1AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1509318613228
HP:0001257HP:0002501Spasticity of pharyngeal muscles1AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1509318613228
HP:0001257HP:0006986Upper limb spasticity1AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1509318613228
HP:0001257HP:0002491Spasticity of facial muscles1ALDH18A1 CL E G H5832616586Spastic paraplegia 9b, autosomal recessive616586C4225272OMIM15869722138250
HP:0001257HP:0031866Clasp-knife sign1ALDH18A1 CL E G H5832616586Spastic paraplegia 9b, autosomal recessive616586C4225272OMIM15869722138250
HP:0001257HP:0002061Lower limb spasticity1ALDH18A1 CL E G H5832616586Spastic paraplegia 9b, autosomal recessive616586C4225272OMIM15869722138250
HP:0001257HP:0002179Opisthotonus1ALDH18A1 CL E G H5832616586Spastic paraplegia 9b, autosomal recessive616586C4225272OMIM15869722138250
HP:0001257HP:0002191Progressive spasticity1ALDH18A1 CL E G H5832616586Spastic paraplegia 9b, autosomal recessive616586C4225272OMIM15869722138250
HP:0001257HP:0001264Spastic diplegia1ALDH18A1 CL E G H5832616586Spastic paraplegia 9b, autosomal recessive616586C4225272OMIM15869722138250
HP:0001257HP:0002464Spastic dysarthria1ALDH18A1 CL E G H5832616586Spastic paraplegia 9b, autosomal recessive616586C4225272OMIM15869722138250
HP:0001257HP:0002064Spastic gait1ALDH18A1 CL E G H5832616586Spastic paraplegia 9b, autosomal recessive616586C4225272OMIM15869722138250
HP:0001257HP:0011099Spastic hemiparesis1ALDH18A1 CL E G H5832616586Spastic paraplegia 9b, autosomal recessive616586C4225272OMIM15869722138250
HP:0001257HP:0001285Spastic tetraparesis1ALDH18A1 CL E G H5832616586Spastic paraplegia 9b, autosomal recessive616586C4225272OMIM15869722138250
HP:0001257HP:0002510Spastic tetraplegia1ALDH18A1 CL E G H5832616586Spastic paraplegia 9b, autosomal recessive616586C4225272OMIM15869722138250
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ALDH18A1 CL E G H5832616586Spastic paraplegia 9b, autosomal recessive616586C4225272OMIM15869722138250
HP:0001257HP:0006986Upper limb spasticity1ALDH18A1 CL E G H5832616586Spastic paraplegia 9b, autosomal recessive616586C4225272OMIM15869722138250
HP:0001257HP:0002491Spasticity of facial muscles1ALDH3A2 CL E G H224270200Sjögren-Larsson syndrome270200C0037231OMIM1635403609523
HP:0001257HP:0031866Clasp-knife sign1ALDH3A2 CL E G H224270200Sjögren-Larsson syndrome270200C0037231OMIM1635403609523
HP:0001257HP:0002061Lower limb spasticity1ALDH3A2 CL E G H224270200Sjögren-Larsson syndrome270200C0037231OMIM1635403609523
HP:0001257HP:0002179Opisthotonus1ALDH3A2 CL E G H224270200Sjögren-Larsson syndrome270200C0037231OMIM1635403609523
HP:0001257HP:0002191Progressive spasticity1ALDH3A2 CL E G H224270200Sjögren-Larsson syndrome270200C0037231OMIM1635403609523
HP:0001257HP:0001264Spastic diplegia1ALDH3A2 CL E G H224270200Sjögren-Larsson syndrome270200C0037231OMIM1635403609523
HP:0001257HP:0002464Spastic dysarthria1ALDH3A2 CL E G H224270200Sjögren-Larsson syndrome270200C0037231OMIM1635403609523
HP:0001257HP:0002064Spastic gait1ALDH3A2 CL E G H224270200Sjögren-Larsson syndrome270200C0037231OMIM1635403609523
HP:0001257HP:0011099Spastic hemiparesis1ALDH3A2 CL E G H224270200Sjögren-Larsson syndrome270200C0037231OMIM1635403609523
HP:0001257HP:0001285Spastic tetraparesis1ALDH3A2 CL E G H224270200Sjögren-Larsson syndrome270200C0037231OMIM1635403609523
HP:0001257HP:0002510Spastic tetraplegia1ALDH3A2 CL E G H224270200Sjögren-Larsson syndrome270200C0037231OMIM1635403609523
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ALDH3A2 CL E G H224270200Sjögren-Larsson syndrome270200C0037231OMIM1635403609523
HP:0001257HP:0006986Upper limb spasticity1ALDH3A2 CL E G H224270200Sjögren-Larsson syndrome270200C0037231OMIM1635403609523
HP:0001257HP:0002491Spasticity of facial muscles1ALS2 CL E G H57679300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1947443606352
HP:0001257HP:0031866Clasp-knife sign1ALS2 CL E G H57679300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1947443606352
HP:0001257HP:0002061Lower limb spasticity1ALS2 CL E G H57679300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1947443606352
HP:0001257HP:0002179Opisthotonus1ALS2 CL E G H57679300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1947443606352
HP:0001257HP:0002191Progressive spasticity1ALS2 CL E G H57679300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1947443606352
HP:0001257HP:0001264Spastic diplegia1ALS2 CL E G H57679300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1947443606352
HP:0001257HP:0002464Spastic dysarthria1ALS2 CL E G H57679300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1947443606352
HP:0001257HP:0002064Spastic gait1ALS2 CL E G H57679300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1947443606352
HP:0001257HP:0011099Spastic hemiparesis1ALS2 CL E G H57679300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1947443606352
HP:0001257HP:0001285Spastic tetraparesis1ALS2 CL E G H57679300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1947443606352
HP:0001257HP:0002510Spastic tetraplegia1ALS2 CL E G H57679300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1947443606352
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ALS2 CL E G H57679300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1947443606352
HP:0001257HP:0006986Upper limb spasticity1ALS2 CL E G H57679300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1947443606352
HP:0001257HP:0002491Spasticity of facial muscles1AMACR CL E G H23600614307Alpha-methylacyl-CoA racemase deficiency614307C3280428OMIM1392451604489
HP:0001257HP:0031866Clasp-knife sign1AMACR CL E G H23600614307Alpha-methylacyl-CoA racemase deficiency614307C3280428OMIM1392451604489
HP:0001257HP:0002061Lower limb spasticity1AMACR CL E G H23600614307Alpha-methylacyl-CoA racemase deficiency614307C3280428OMIM1392451604489
HP:0001257HP:0002179Opisthotonus1AMACR CL E G H23600614307Alpha-methylacyl-CoA racemase deficiency614307C3280428OMIM1392451604489
HP:0001257HP:0002191Progressive spasticity1AMACR CL E G H23600614307Alpha-methylacyl-CoA racemase deficiency614307C3280428OMIM1392451604489
HP:0001257HP:0001264Spastic diplegia1AMACR CL E G H23600614307Alpha-methylacyl-CoA racemase deficiency614307C3280428OMIM1392451604489
HP:0001257HP:0002464Spastic dysarthria1AMACR CL E G H23600614307Alpha-methylacyl-CoA racemase deficiency614307C3280428OMIM1392451604489
HP:0001257HP:0002064Spastic gait1AMACR CL E G H23600614307Alpha-methylacyl-CoA racemase deficiency614307C3280428OMIM1392451604489
HP:0001257HP:0011099Spastic hemiparesis1AMACR CL E G H23600614307Alpha-methylacyl-CoA racemase deficiency614307C3280428OMIM1392451604489
HP:0001257HP:0001285Spastic tetraparesis1AMACR CL E G H23600614307Alpha-methylacyl-CoA racemase deficiency614307C3280428OMIM1392451604489
HP:0001257HP:0002510Spastic tetraplegia1AMACR CL E G H23600614307Alpha-methylacyl-CoA racemase deficiency614307C3280428OMIM1392451604489
HP:0001257HP:0002501Spasticity of pharyngeal muscles1AMACR CL E G H23600614307Alpha-methylacyl-CoA racemase deficiency614307C3280428OMIM1392451604489
HP:0001257HP:0006986Upper limb spasticity1AMACR CL E G H23600614307Alpha-methylacyl-CoA racemase deficiency614307C3280428OMIM1392451604489
HP:0001257HP:0002491Spasticity of facial muscles1AMPD2 CL E G H271615809Pontocerebellar hypoplasia, type 9615809C4014354OMIM1392469102771
HP:0001257HP:0031866Clasp-knife sign1AMPD2 CL E G H271615809Pontocerebellar hypoplasia, type 9615809C4014354OMIM1392469102771
HP:0001257HP:0002061Lower limb spasticity1AMPD2 CL E G H271615809Pontocerebellar hypoplasia, type 9615809C4014354OMIM1392469102771
HP:0001257HP:0002179Opisthotonus1AMPD2 CL E G H271615809Pontocerebellar hypoplasia, type 9615809C4014354OMIM1392469102771
HP:0001257HP:0002191Progressive spasticity1AMPD2 CL E G H271615809Pontocerebellar hypoplasia, type 9615809C4014354OMIM1392469102771
HP:0001257HP:0001264Spastic diplegia1AMPD2 CL E G H271615809Pontocerebellar hypoplasia, type 9615809C4014354OMIM1392469102771
HP:0001257HP:0002464Spastic dysarthria1AMPD2 CL E G H271615809Pontocerebellar hypoplasia, type 9615809C4014354OMIM1392469102771
HP:0001257HP:0002064Spastic gait1AMPD2 CL E G H271615809Pontocerebellar hypoplasia, type 9615809C4014354OMIM1392469102771
HP:0001257HP:0011099Spastic hemiparesis1AMPD2 CL E G H271615809Pontocerebellar hypoplasia, type 9615809C4014354OMIM1392469102771
HP:0001257HP:0001285Spastic tetraparesis1AMPD2 CL E G H271615809Pontocerebellar hypoplasia, type 9615809C4014354OMIM1392469102771
HP:0001257HP:0002510Spastic tetraplegia1AMPD2 CL E G H271615809Pontocerebellar hypoplasia, type 9615809C4014354OMIM1392469102771
HP:0001257HP:0002501Spasticity of pharyngeal muscles1AMPD2 CL E G H271615809Pontocerebellar hypoplasia, type 9615809C4014354OMIM1392469102771
HP:0001257HP:0006986Upper limb spasticity1AMPD2 CL E G H271615809Pontocerebellar hypoplasia, type 9615809C4014354OMIM1392469102771
HP:0001257HP:0002491Spasticity of facial muscles1ANG CL E G H283803ORPHA1114483105850
HP:0001257HP:0031866Clasp-knife sign1ANG CL E G H283803ORPHA1114483105850
HP:0001257HP:0002061Lower limb spasticity1ANG CL E G H283803ORPHA1114483105850
HP:0001257HP:0002179Opisthotonus1ANG CL E G H283803ORPHA1114483105850
HP:0001257HP:0002191Progressive spasticity1ANG CL E G H283803ORPHA1114483105850
HP:0001257HP:0001264Spastic diplegia1ANG CL E G H283803ORPHA1114483105850
HP:0001257HP:0002464Spastic dysarthria1ANG CL E G H283803ORPHA1114483105850
HP:0001257HP:0002064Spastic gait1ANG CL E G H283803ORPHA1114483105850
HP:0001257HP:0011099Spastic hemiparesis1ANG CL E G H283803ORPHA1114483105850
HP:0001257HP:0001285Spastic tetraparesis1ANG CL E G H283803ORPHA1114483105850
HP:0001257HP:0002510Spastic tetraplegia1ANG CL E G H283803ORPHA1114483105850
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ANG CL E G H283803ORPHA1114483105850
HP:0001257HP:0006986Upper limb spasticity1ANG CL E G H283803ORPHA1114483105850
HP:0001257HP:0002491Spasticity of facial muscles1ANG CL E G H283611895Amyotrophic lateral sclerosis type 9611895C2678468OMIM1114483105850
HP:0001257HP:0031866Clasp-knife sign1ANG CL E G H283611895Amyotrophic lateral sclerosis type 9611895C2678468OMIM1114483105850
HP:0001257HP:0002061Lower limb spasticity1ANG CL E G H283611895Amyotrophic lateral sclerosis type 9611895C2678468OMIM1114483105850
HP:0001257HP:0002179Opisthotonus1ANG CL E G H283611895Amyotrophic lateral sclerosis type 9611895C2678468OMIM1114483105850
HP:0001257HP:0002191Progressive spasticity1ANG CL E G H283611895Amyotrophic lateral sclerosis type 9611895C2678468OMIM1114483105850
HP:0001257HP:0001264Spastic diplegia1ANG CL E G H283611895Amyotrophic lateral sclerosis type 9611895C2678468OMIM1114483105850
HP:0001257HP:0002464Spastic dysarthria1ANG CL E G H283611895Amyotrophic lateral sclerosis type 9611895C2678468OMIM1114483105850
HP:0001257HP:0002064Spastic gait1ANG CL E G H283611895Amyotrophic lateral sclerosis type 9611895C2678468OMIM1114483105850
HP:0001257HP:0011099Spastic hemiparesis1ANG CL E G H283611895Amyotrophic lateral sclerosis type 9611895C2678468OMIM1114483105850
HP:0001257HP:0001285Spastic tetraparesis1ANG CL E G H283611895Amyotrophic lateral sclerosis type 9611895C2678468OMIM1114483105850
HP:0001257HP:0002510Spastic tetraplegia1ANG CL E G H283611895Amyotrophic lateral sclerosis type 9611895C2678468OMIM1114483105850
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ANG CL E G H283611895Amyotrophic lateral sclerosis type 9611895C2678468OMIM1114483105850
HP:0001257HP:0006986Upper limb spasticity1ANG CL E G H283611895Amyotrophic lateral sclerosis type 9611895C2678468OMIM1114483105850
HP:0001257HP:0002491Spasticity of facial muscles1ANK3 CL E G H288615493Mental retardation, autosomal recessive 37615493C3809672OMIM11073494600465
HP:0001257HP:0031866Clasp-knife sign1ANK3 CL E G H288615493Mental retardation, autosomal recessive 37615493C3809672OMIM11073494600465
HP:0001257HP:0002061Lower limb spasticity1ANK3 CL E G H288615493Mental retardation, autosomal recessive 37615493C3809672OMIM11073494600465
HP:0001257HP:0002179Opisthotonus1ANK3 CL E G H288615493Mental retardation, autosomal recessive 37615493C3809672OMIM11073494600465
HP:0001257HP:0002191Progressive spasticity1ANK3 CL E G H288615493Mental retardation, autosomal recessive 37615493C3809672OMIM11073494600465
HP:0001257HP:0001264Spastic diplegia1ANK3 CL E G H288615493Mental retardation, autosomal recessive 37615493C3809672OMIM11073494600465
HP:0001257HP:0002464Spastic dysarthria1ANK3 CL E G H288615493Mental retardation, autosomal recessive 37615493C3809672OMIM11073494600465
HP:0001257HP:0002064Spastic gait1ANK3 CL E G H288615493Mental retardation, autosomal recessive 37615493C3809672OMIM11073494600465
HP:0001257HP:0011099Spastic hemiparesis1ANK3 CL E G H288615493Mental retardation, autosomal recessive 37615493C3809672OMIM11073494600465
HP:0001257HP:0001285Spastic tetraparesis1ANK3 CL E G H288615493Mental retardation, autosomal recessive 37615493C3809672OMIM11073494600465
HP:0001257HP:0002510Spastic tetraplegia1ANK3 CL E G H288615493Mental retardation, autosomal recessive 37615493C3809672OMIM11073494600465
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ANK3 CL E G H288615493Mental retardation, autosomal recessive 37615493C3809672OMIM11073494600465
HP:0001257HP:0006986Upper limb spasticity1ANK3 CL E G H288615493Mental retardation, autosomal recessive 37615493C3809672OMIM11073494600465
HP:0001257HP:0002491Spasticity of facial muscles1ANXA11 CL E G H311803ORPHA1305535602572
HP:0001257HP:0031866Clasp-knife sign1ANXA11 CL E G H311803ORPHA1305535602572
HP:0001257HP:0002061Lower limb spasticity1ANXA11 CL E G H311803ORPHA1305535602572
HP:0001257HP:0002179Opisthotonus1ANXA11 CL E G H311803ORPHA1305535602572
HP:0001257HP:0002191Progressive spasticity1ANXA11 CL E G H311803ORPHA1305535602572
HP:0001257HP:0001264Spastic diplegia1ANXA11 CL E G H311803ORPHA1305535602572
HP:0001257HP:0002464Spastic dysarthria1ANXA11 CL E G H311803ORPHA1305535602572
HP:0001257HP:0002064Spastic gait1ANXA11 CL E G H311803ORPHA1305535602572
HP:0001257HP:0011099Spastic hemiparesis1ANXA11 CL E G H311803ORPHA1305535602572
HP:0001257HP:0001285Spastic tetraparesis1ANXA11 CL E G H311803ORPHA1305535602572
HP:0001257HP:0002510Spastic tetraplegia1ANXA11 CL E G H311803ORPHA1305535602572
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ANXA11 CL E G H311803ORPHA1305535602572
HP:0001257HP:0006986Upper limb spasticity1ANXA11 CL E G H311803ORPHA1305535602572
HP:0001257HP:0002491Spasticity of facial muscles1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0001257HP:0031866Clasp-knife sign1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0001257HP:0002061Lower limb spasticity1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0001257HP:0002179Opisthotonus1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0001257HP:0002191Progressive spasticity1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0001257HP:0001264Spastic diplegia1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0001257HP:0002464Spastic dysarthria1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0001257HP:0002064Spastic gait1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0001257HP:0011099Spastic hemiparesis1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0001257HP:0001285Spastic tetraparesis1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0001257HP:0002510Spastic tetraplegia1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0001257HP:0002501Spasticity of pharyngeal muscles1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0001257HP:0006986Upper limb spasticity1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0001257HP:0002491Spasticity of facial muscles1AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1403572607245
HP:0001257HP:0031866Clasp-knife sign1AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1403572607245
HP:0001257HP:0002061Lower limb spasticity1AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1403572607245
HP:0001257HP:0002179Opisthotonus1AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1403572607245
HP:0001257HP:0002191Progressive spasticity1AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1403572607245
HP:0001257HP:0001264Spastic diplegia1AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1403572607245
HP:0001257HP:0002464Spastic dysarthria1AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1403572607245
HP:0001257HP:0002064Spastic gait1AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1403572607245
HP:0001257HP:0011099Spastic hemiparesis1AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1403572607245
HP:0001257HP:0001285Spastic tetraparesis1AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1403572607245
HP:0001257HP:0002510Spastic tetraplegia1AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1403572607245
HP:0001257HP:0002501Spasticity of pharyngeal muscles1AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1403572607245
HP:0001257HP:0006986Upper limb spasticity1AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1403572607245
HP:0001257HP:0002491Spasticity of facial muscles1AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1148575607243
HP:0001257HP:0031866Clasp-knife sign1AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1148575607243
HP:0001257HP:0002061Lower limb spasticity1AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1148575607243
HP:0001257HP:0002179Opisthotonus1AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1148575607243
HP:0001257HP:0002191Progressive spasticity1AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1148575607243
HP:0001257HP:0001264Spastic diplegia1AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1148575607243
HP:0001257HP:0002464Spastic dysarthria1AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1148575607243
HP:0001257HP:0002064Spastic gait1AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1148575607243
HP:0001257HP:0011099Spastic hemiparesis1AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1148575607243
HP:0001257HP:0001285Spastic tetraparesis1AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1148575607243
HP:0001257HP:0002510Spastic tetraplegia1AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1148575607243
HP:0001257HP:0002501Spasticity of pharyngeal muscles1AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1148575607243
HP:0001257HP:0006986Upper limb spasticity1AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1148575607243
HP:0001257HP:0002491Spasticity of facial muscles1ARF1 CL E G H375618185PERIVENTRICULAR NODULAR HETEROTOPIA 8618185OMIM166652103180
HP:0001257HP:0031866Clasp-knife sign1ARF1 CL E G H375618185PERIVENTRICULAR NODULAR HETEROTOPIA 8618185OMIM166652103180
HP:0001257HP:0002061Lower limb spasticity1ARF1 CL E G H375618185PERIVENTRICULAR NODULAR HETEROTOPIA 8618185OMIM166652103180
HP:0001257HP:0002179Opisthotonus1ARF1 CL E G H375618185PERIVENTRICULAR NODULAR HETEROTOPIA 8618185OMIM166652103180
HP:0001257HP:0002191Progressive spasticity1ARF1 CL E G H375618185PERIVENTRICULAR NODULAR HETEROTOPIA 8618185OMIM166652103180
HP:0001257HP:0001264Spastic diplegia1ARF1 CL E G H375618185PERIVENTRICULAR NODULAR HETEROTOPIA 8618185OMIM166652103180
HP:0001257HP:0002464Spastic dysarthria1ARF1 CL E G H375618185PERIVENTRICULAR NODULAR HETEROTOPIA 8618185OMIM166652103180
HP:0001257HP:0002064Spastic gait1ARF1 CL E G H375618185PERIVENTRICULAR NODULAR HETEROTOPIA 8618185OMIM166652103180
HP:0001257HP:0011099Spastic hemiparesis1ARF1 CL E G H375618185PERIVENTRICULAR NODULAR HETEROTOPIA 8618185OMIM166652103180
HP:0001257HP:0001285Spastic tetraparesis1ARF1 CL E G H375618185PERIVENTRICULAR NODULAR HETEROTOPIA 8618185OMIM166652103180
HP:0001257HP:0002510Spastic tetraplegia1ARF1 CL E G H375618185PERIVENTRICULAR NODULAR HETEROTOPIA 8618185OMIM166652103180
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ARF1 CL E G H375618185PERIVENTRICULAR NODULAR HETEROTOPIA 8618185OMIM166652103180
HP:0001257HP:0006986Upper limb spasticity1ARF1 CL E G H375618185PERIVENTRICULAR NODULAR HETEROTOPIA 8618185OMIM166652103180
HP:0001257HP:0002491Spasticity of facial muscles1ARNT2 CL E G H9915615926Webb-Dattani syndrome615926C4014708OMIM119416876606036
HP:0001257HP:0031866Clasp-knife sign1ARNT2 CL E G H9915615926Webb-Dattani syndrome615926C4014708OMIM119416876606036
HP:0001257HP:0002061Lower limb spasticity1ARNT2 CL E G H9915615926Webb-Dattani syndrome615926C4014708OMIM119416876606036
HP:0001257HP:0002179Opisthotonus1ARNT2 CL E G H9915615926Webb-Dattani syndrome615926C4014708OMIM119416876606036
HP:0001257HP:0002191Progressive spasticity1ARNT2 CL E G H9915615926Webb-Dattani syndrome615926C4014708OMIM119416876606036
HP:0001257HP:0001264Spastic diplegia1ARNT2 CL E G H9915615926Webb-Dattani syndrome615926C4014708OMIM119416876606036
HP:0001257HP:0002464Spastic dysarthria1ARNT2 CL E G H9915615926Webb-Dattani syndrome615926C4014708OMIM119416876606036
HP:0001257HP:0002064Spastic gait1ARNT2 CL E G H9915615926Webb-Dattani syndrome615926C4014708OMIM119416876606036
HP:0001257HP:0011099Spastic hemiparesis1ARNT2 CL E G H9915615926Webb-Dattani syndrome615926C4014708OMIM119416876606036
HP:0001257HP:0001285Spastic tetraparesis1ARNT2 CL E G H9915615926Webb-Dattani syndrome615926C4014708OMIM119416876606036
HP:0001257HP:0002510Spastic tetraplegia1ARNT2 CL E G H9915615926Webb-Dattani syndrome615926C4014708OMIM119416876606036
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ARNT2 CL E G H9915615926Webb-Dattani syndrome615926C4014708OMIM119416876606036
HP:0001257HP:0006986Upper limb spasticity1ARNT2 CL E G H9915615926Webb-Dattani syndrome615926C4014708OMIM119416876606036
HP:0001257HP:0002491Spasticity of facial muscles1ARX CL E G H1703022508ORPHA181018060300382
HP:0001257HP:0031866Clasp-knife sign1ARX CL E G H1703022508ORPHA181018060300382
HP:0001257HP:0002061Lower limb spasticity1ARX CL E G H1703022508ORPHA181018060300382
HP:0001257HP:0002179Opisthotonus1ARX CL E G H1703022508ORPHA181018060300382
HP:0001257HP:0002191Progressive spasticity1ARX CL E G H1703022508ORPHA181018060300382
HP:0001257HP:0001264Spastic diplegia1ARX CL E G H1703022508ORPHA181018060300382
HP:0001257HP:0002464Spastic dysarthria1ARX CL E G H1703022508ORPHA181018060300382
HP:0001257HP:0002064Spastic gait1ARX CL E G H1703022508ORPHA181018060300382
HP:0001257HP:0011099Spastic hemiparesis1ARX CL E G H1703022508ORPHA181018060300382
HP:0001257HP:0001285Spastic tetraparesis1ARX CL E G H1703022508ORPHA181018060300382
HP:0001257HP:0002510Spastic tetraplegia1ARX CL E G H1703022508ORPHA181018060300382
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ARX CL E G H1703022508ORPHA181018060300382
HP:0001257HP:0006986Upper limb spasticity1ARX CL E G H1703022508ORPHA181018060300382
HP:0001257HP:0002491Spasticity of facial muscles1ARX CL E G H1703023175ORPHA181018060300382
HP:0001257HP:0031866Clasp-knife sign1ARX CL E G H1703023175ORPHA181018060300382
HP:0001257HP:0002061Lower limb spasticity1ARX CL E G H1703023175ORPHA181018060300382
HP:0001257HP:0002179Opisthotonus1ARX CL E G H1703023175ORPHA181018060300382
HP:0001257HP:0002191Progressive spasticity1ARX CL E G H1703023175ORPHA181018060300382
HP:0001257HP:0001264Spastic diplegia1ARX CL E G H1703023175ORPHA181018060300382
HP:0001257HP:0002464Spastic dysarthria1ARX CL E G H1703023175ORPHA181018060300382
HP:0001257HP:0002064Spastic gait1ARX CL E G H1703023175ORPHA181018060300382
HP:0001257HP:0011099Spastic hemiparesis1ARX CL E G H1703023175ORPHA181018060300382
HP:0001257HP:0001285Spastic tetraparesis1ARX CL E G H1703023175ORPHA181018060300382
HP:0001257HP:0002510Spastic tetraplegia1ARX CL E G H1703023175ORPHA181018060300382
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ARX CL E G H1703023175ORPHA181018060300382
HP:0001257HP:0006986Upper limb spasticity1ARX CL E G H1703023175ORPHA181018060300382
HP:0001257HP:0002491Spasticity of facial muscles1ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001257HP:0031866Clasp-knife sign1ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001257HP:0002061Lower limb spasticity1ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001257HP:0002179Opisthotonus1ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001257HP:0002191Progressive spasticity1ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001257HP:0001264Spastic diplegia1ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001257HP:0002464Spastic dysarthria1ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001257HP:0002064Spastic gait1ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001257HP:0011099Spastic hemiparesis1ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001257HP:0001285Spastic tetraparesis1ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001257HP:0002510Spastic tetraplegia1ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001257HP:0006986Upper limb spasticity1ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001257HP:0002491Spasticity of facial muscles1ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM181018060300382
HP:0001257HP:0031866Clasp-knife sign1ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM181018060300382
HP:0001257HP:0002061Lower limb spasticity1ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM181018060300382
HP:0001257HP:0002179Opisthotonus1ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM181018060300382
HP:0001257HP:0002191Progressive spasticity1ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM181018060300382
HP:0001257HP:0001264Spastic diplegia1ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM181018060300382
HP:0001257HP:0002464Spastic dysarthria1ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM181018060300382
HP:0001257HP:0002064Spastic gait1ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM181018060300382
HP:0001257HP:0011099Spastic hemiparesis1ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM181018060300382
HP:0001257HP:0001285Spastic tetraparesis1ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM181018060300382
HP:0001257HP:0002510Spastic tetraplegia1ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM181018060300382
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM181018060300382
HP:0001257HP:0006986Upper limb spasticity1ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM181018060300382
HP:0001257HP:0002491Spasticity of facial muscles1ASPA CL E G H443314911ORPHA1388756608034
HP:0001257HP:0031866Clasp-knife sign1ASPA CL E G H443314911ORPHA1388756608034
HP:0001257HP:0002061Lower limb spasticity1ASPA CL E G H443314911ORPHA1388756608034
HP:0001257HP:0002179Opisthotonus1ASPA CL E G H443314911ORPHA1388756608034
HP:0001257HP:0002191Progressive spasticity1ASPA CL E G H443314911ORPHA1388756608034
HP:0001257HP:0001264Spastic diplegia1ASPA CL E G H443314911ORPHA1388756608034
HP:0001257HP:0002464Spastic dysarthria1ASPA CL E G H443314911ORPHA1388756608034
HP:0001257HP:0002064Spastic gait1ASPA CL E G H443314911ORPHA1388756608034
HP:0001257HP:0011099Spastic hemiparesis1ASPA CL E G H443314911ORPHA1388756608034
HP:0001257HP:0001285Spastic tetraparesis1ASPA CL E G H443314911ORPHA1388756608034
HP:0001257HP:0002510Spastic tetraplegia1ASPA CL E G H443314911ORPHA1388756608034
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ASPA CL E G H443314911ORPHA1388756608034
HP:0001257HP:0006986Upper limb spasticity1ASPA CL E G H443314911ORPHA1388756608034
HP:0001257HP:0002491Spasticity of facial muscles1ATAD1 CL E G H848963197Lateral body wall defectORPHA118325903614452
HP:0001257HP:0031866Clasp-knife sign1ATAD1 CL E G H848963197Lateral body wall defectORPHA118325903614452
HP:0001257HP:0002061Lower limb spasticity1ATAD1 CL E G H848963197Lateral body wall defectORPHA118325903614452
HP:0001257HP:0002179Opisthotonus1ATAD1 CL E G H848963197Lateral body wall defectORPHA118325903614452
HP:0001257HP:0002191Progressive spasticity1ATAD1 CL E G H848963197Lateral body wall defectORPHA118325903614452
HP:0001257HP:0001264Spastic diplegia1ATAD1 CL E G H848963197Lateral body wall defectORPHA118325903614452
HP:0001257HP:0002464Spastic dysarthria1ATAD1 CL E G H848963197Lateral body wall defectORPHA118325903614452
HP:0001257HP:0002064Spastic gait1ATAD1 CL E G H848963197Lateral body wall defectORPHA118325903614452
HP:0001257HP:0011099Spastic hemiparesis1ATAD1 CL E G H848963197Lateral body wall defectORPHA118325903614452
HP:0001257HP:0001285Spastic tetraparesis1ATAD1 CL E G H848963197Lateral body wall defectORPHA118325903614452
HP:0001257HP:0002510Spastic tetraplegia1ATAD1 CL E G H848963197Lateral body wall defectORPHA118325903614452
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ATAD1 CL E G H848963197Lateral body wall defectORPHA118325903614452
HP:0001257HP:0006986Upper limb spasticity1ATAD1 CL E G H848963197Lateral body wall defectORPHA118325903614452
HP:0001257HP:0002491Spasticity of facial muscles1ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM139925567612316
HP:0001257HP:0031866Clasp-knife sign1ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM139925567612316
HP:0001257HP:0002061Lower limb spasticity1ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM139925567612316
HP:0001257HP:0002179Opisthotonus1ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM139925567612316
HP:0001257HP:0002191Progressive spasticity1ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM139925567612316
HP:0001257HP:0001264Spastic diplegia1ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM139925567612316
HP:0001257HP:0002464Spastic dysarthria1ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM139925567612316
HP:0001257HP:0002064Spastic gait1ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM139925567612316
HP:0001257HP:0011099Spastic hemiparesis1ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM139925567612316
HP:0001257HP:0001285Spastic tetraparesis1ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM139925567612316
HP:0001257HP:0002510Spastic tetraplegia1ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM139925567612316
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM139925567612316
HP:0001257HP:0006986Upper limb spasticity1ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM139925567612316
HP:0001257HP:0002491Spasticity of facial muscles1ATM CL E G H472100ORPHA114692795607585
HP:0001257HP:0031866Clasp-knife sign1ATM CL E G H472100ORPHA114692795607585
HP:0001257HP:0002061Lower limb spasticity1ATM CL E G H472100ORPHA114692795607585
HP:0001257HP:0002179Opisthotonus1ATM CL E G H472100ORPHA114692795607585
HP:0001257HP:0002191Progressive spasticity1ATM CL E G H472100ORPHA114692795607585
HP:0001257HP:0001264Spastic diplegia1ATM CL E G H472100ORPHA114692795607585
HP:0001257HP:0002464Spastic dysarthria1ATM CL E G H472100ORPHA114692795607585
HP:0001257HP:0002064Spastic gait1ATM CL E G H472100ORPHA114692795607585
HP:0001257HP:0011099Spastic hemiparesis1ATM CL E G H472100ORPHA114692795607585
HP:0001257HP:0001285Spastic tetraparesis1ATM CL E G H472100ORPHA114692795607585
HP:0001257HP:0002510Spastic tetraplegia1ATM CL E G H472100ORPHA114692795607585
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ATM CL E G H472100ORPHA114692795607585
HP:0001257HP:0006986Upper limb spasticity1ATM CL E G H472100ORPHA114692795607585
HP:0001257HP:0002491Spasticity of facial muscles1ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM197430213610513
HP:0001257HP:0031866Clasp-knife sign1ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM197430213610513
HP:0001257HP:0002061Lower limb spasticity1ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM197430213610513
HP:0001257HP:0002179Opisthotonus1ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM197430213610513
HP:0001257HP:0002191Progressive spasticity1ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM197430213610513
HP:0001257HP:0001264Spastic diplegia1ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM197430213610513
HP:0001257HP:0002464Spastic dysarthria1ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM197430213610513
HP:0001257HP:0002064Spastic gait1ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM197430213610513
HP:0001257HP:0011099Spastic hemiparesis1ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM197430213610513
HP:0001257HP:0001285Spastic tetraparesis1ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM197430213610513
HP:0001257HP:0002510Spastic tetraplegia1ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM197430213610513
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM197430213610513
HP:0001257HP:0006986Upper limb spasticity1ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM197430213610513
HP:0001257HP:0002491Spasticity of facial muscles1ATP6V0A2 CL E G H23545357074ORPHA161018481611716
HP:0001257HP:0031866Clasp-knife sign1ATP6V0A2 CL E G H23545357074ORPHA161018481611716
HP:0001257HP:0002061Lower limb spasticity1ATP6V0A2 CL E G H23545357074ORPHA161018481611716
HP:0001257HP:0002179Opisthotonus1ATP6V0A2 CL E G H23545357074ORPHA161018481611716
HP:0001257HP:0002191Progressive spasticity1ATP6V0A2 CL E G H23545357074ORPHA161018481611716
HP:0001257HP:0001264Spastic diplegia1ATP6V0A2 CL E G H23545357074ORPHA161018481611716
HP:0001257HP:0002464Spastic dysarthria1ATP6V0A2 CL E G H23545357074ORPHA161018481611716
HP:0001257HP:0002064Spastic gait1ATP6V0A2 CL E G H23545357074ORPHA161018481611716
HP:0001257HP:0011099Spastic hemiparesis1ATP6V0A2 CL E G H23545357074ORPHA161018481611716
HP:0001257HP:0001285Spastic tetraparesis1ATP6V0A2 CL E G H23545357074ORPHA161018481611716
HP:0001257HP:0002510Spastic tetraplegia1ATP6V0A2 CL E G H23545357074ORPHA161018481611716
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ATP6V0A2 CL E G H23545357074ORPHA161018481611716
HP:0001257HP:0006986Upper limb spasticity1ATP6V0A2 CL E G H23545357074ORPHA161018481611716
HP:0001257HP:0002491Spasticity of facial muscles1ATP6V1A CL E G H523357074ORPHA1229851607027
HP:0001257HP:0031866Clasp-knife sign1ATP6V1A CL E G H523357074ORPHA1229851607027
HP:0001257HP:0002061Lower limb spasticity1ATP6V1A CL E G H523357074ORPHA1229851607027
HP:0001257HP:0002179Opisthotonus1ATP6V1A CL E G H523357074ORPHA1229851607027
HP:0001257HP:0002191Progressive spasticity1ATP6V1A CL E G H523357074ORPHA1229851607027
HP:0001257HP:0001264Spastic diplegia1ATP6V1A CL E G H523357074ORPHA1229851607027
HP:0001257HP:0002464Spastic dysarthria1ATP6V1A CL E G H523357074ORPHA1229851607027
HP:0001257HP:0002064Spastic gait1ATP6V1A CL E G H523357074ORPHA1229851607027
HP:0001257HP:0011099Spastic hemiparesis1ATP6V1A CL E G H523357074ORPHA1229851607027
HP:0001257HP:0001285Spastic tetraparesis1ATP6V1A CL E G H523357074ORPHA1229851607027
HP:0001257HP:0002510Spastic tetraplegia1ATP6V1A CL E G H523357074ORPHA1229851607027
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ATP6V1A CL E G H523357074ORPHA1229851607027
HP:0001257HP:0006986Upper limb spasticity1ATP6V1A CL E G H523357074ORPHA1229851607027
HP:0001257HP:0002491Spasticity of facial muscles1ATP6V1E1 CL E G H529357074ORPHA1196857108746
HP:0001257HP:0031866Clasp-knife sign1ATP6V1E1 CL E G H529357074ORPHA1196857108746
HP:0001257HP:0002061Lower limb spasticity1ATP6V1E1 CL E G H529357074ORPHA1196857108746
HP:0001257HP:0002179Opisthotonus1ATP6V1E1 CL E G H529357074ORPHA1196857108746
HP:0001257HP:0002191Progressive spasticity1ATP6V1E1 CL E G H529357074ORPHA1196857108746
HP:0001257HP:0001264Spastic diplegia1ATP6V1E1 CL E G H529357074ORPHA1196857108746
HP:0001257HP:0002464Spastic dysarthria1ATP6V1E1 CL E G H529357074ORPHA1196857108746
HP:0001257HP:0002064Spastic gait1ATP6V1E1 CL E G H529357074ORPHA1196857108746
HP:0001257HP:0011099Spastic hemiparesis1ATP6V1E1 CL E G H529357074ORPHA1196857108746
HP:0001257HP:0001285Spastic tetraparesis1ATP6V1E1 CL E G H529357074ORPHA1196857108746
HP:0001257HP:0002510Spastic tetraplegia1ATP6V1E1 CL E G H529357074ORPHA1196857108746
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ATP6V1E1 CL E G H529357074ORPHA1196857108746
HP:0001257HP:0006986Upper limb spasticity1ATP6V1E1 CL E G H529357074ORPHA1196857108746
HP:0001257HP:0002491Spasticity of facial muscles1ATP7A CL E G H538565ORPHA11751869300011
HP:0001257HP:0031866Clasp-knife sign1ATP7A CL E G H538565ORPHA11751869300011
HP:0001257HP:0002061Lower limb spasticity1ATP7A CL E G H538565ORPHA11751869300011
HP:0001257HP:0002179Opisthotonus1ATP7A CL E G H538565ORPHA11751869300011
HP:0001257HP:0002191Progressive spasticity1ATP7A CL E G H538565ORPHA11751869300011
HP:0001257HP:0001264Spastic diplegia1ATP7A CL E G H538565ORPHA11751869300011
HP:0001257HP:0002464Spastic dysarthria1ATP7A CL E G H538565ORPHA11751869300011
HP:0001257HP:0002064Spastic gait1ATP7A CL E G H538565ORPHA11751869300011
HP:0001257HP:0011099Spastic hemiparesis1ATP7A CL E G H538565ORPHA11751869300011
HP:0001257HP:0001285Spastic tetraparesis1ATP7A CL E G H538565ORPHA11751869300011
HP:0001257HP:0002510Spastic tetraplegia1ATP7A CL E G H538565ORPHA11751869300011
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ATP7A CL E G H538565ORPHA11751869300011
HP:0001257HP:0006986Upper limb spasticity1ATP7A CL E G H538565ORPHA11751869300011
HP:0001257HP:0002491Spasticity of facial muscles1ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11925886300032
HP:0001257HP:0031866Clasp-knife sign1ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11925886300032
HP:0001257HP:0002061Lower limb spasticity1ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11925886300032
HP:0001257HP:0002179Opisthotonus1ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11925886300032
HP:0001257HP:0002191Progressive spasticity1ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11925886300032
HP:0001257HP:0001264Spastic diplegia1ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11925886300032
HP:0001257HP:0002464Spastic dysarthria1ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11925886300032
HP:0001257HP:0002064Spastic gait1ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11925886300032
HP:0001257HP:0011099Spastic hemiparesis1ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11925886300032
HP:0001257HP:0001285Spastic tetraparesis1ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11925886300032
HP:0001257HP:0002510Spastic tetraplegia1ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11925886300032
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11925886300032
HP:0001257HP:0006986Upper limb spasticity1ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11925886300032
HP:0001257HP:0002491Spasticity of facial muscles1ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM112010548601556
HP:0001257HP:0031866Clasp-knife sign1ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM112010548601556
HP:0001257HP:0002061Lower limb spasticity1ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM112010548601556
HP:0001257HP:0002179Opisthotonus1ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM112010548601556
HP:0001257HP:0002191Progressive spasticity1ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM112010548601556
HP:0001257HP:0001264Spastic diplegia1ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM112010548601556
HP:0001257HP:0002464Spastic dysarthria1ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM112010548601556
HP:0001257HP:0002064Spastic gait1ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM112010548601556
HP:0001257HP:0011099Spastic hemiparesis1ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM112010548601556
HP:0001257HP:0001285Spastic tetraparesis1ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM112010548601556
HP:0001257HP:0002510Spastic tetraplegia1ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM112010548601556
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM112010548601556
HP:0001257HP:0006986Upper limb spasticity1ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM112010548601556
HP:0001257HP:0002491Spasticity of facial muscles1ATXN2 CL E G H6311803ORPHA111510555601517
HP:0001257HP:0031866Clasp-knife sign1ATXN2 CL E G H6311803ORPHA111510555601517
HP:0001257HP:0002061Lower limb spasticity1ATXN2 CL E G H6311803ORPHA111510555601517
HP:0001257HP:0002179Opisthotonus1ATXN2 CL E G H6311803ORPHA111510555601517
HP:0001257HP:0002191Progressive spasticity1ATXN2 CL E G H6311803ORPHA111510555601517
HP:0001257HP:0001264Spastic diplegia1ATXN2 CL E G H6311803ORPHA111510555601517
HP:0001257HP:0002464Spastic dysarthria1ATXN2 CL E G H6311803ORPHA111510555601517
HP:0001257HP:0002064Spastic gait1ATXN2 CL E G H6311803ORPHA111510555601517
HP:0001257HP:0011099Spastic hemiparesis1ATXN2 CL E G H6311803ORPHA111510555601517
HP:0001257HP:0001285Spastic tetraparesis1ATXN2 CL E G H6311803ORPHA111510555601517
HP:0001257HP:0002510Spastic tetraplegia1ATXN2 CL E G H6311803ORPHA111510555601517
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ATXN2 CL E G H6311803ORPHA111510555601517
HP:0001257HP:0006986Upper limb spasticity1ATXN2 CL E G H6311803ORPHA111510555601517
HP:0001257HP:0002491Spasticity of facial muscles1ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM111510555601517
HP:0001257HP:0031866Clasp-knife sign1ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM111510555601517
HP:0001257HP:0002061Lower limb spasticity1ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM111510555601517
HP:0001257HP:0002179Opisthotonus1ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM111510555601517
HP:0001257HP:0002191Progressive spasticity1ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM111510555601517
HP:0001257HP:0001264Spastic diplegia1ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM111510555601517
HP:0001257HP:0002464Spastic dysarthria1ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM111510555601517
HP:0001257HP:0002064Spastic gait1ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM111510555601517
HP:0001257HP:0011099Spastic hemiparesis1ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM111510555601517
HP:0001257HP:0001285Spastic tetraparesis1ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM111510555601517
HP:0001257HP:0002510Spastic tetraplegia1ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM111510555601517
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM111510555601517
HP:0001257HP:0006986Upper limb spasticity1ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM111510555601517
HP:0001257HP:0002491Spasticity of facial muscles1ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0001257HP:0031866Clasp-knife sign1ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0001257HP:0002061Lower limb spasticity1ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0001257HP:0002179Opisthotonus1ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0001257HP:0002191Progressive spasticity1ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0001257HP:0001264Spastic diplegia1ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0001257HP:0002464Spastic dysarthria1ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0001257HP:0002064Spastic gait1ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0001257HP:0011099Spastic hemiparesis1ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0001257HP:0001285Spastic tetraparesis1ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0001257HP:0002510Spastic tetraplegia1ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0001257HP:0006986Upper limb spasticity1ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0001257HP:0002491Spasticity of facial muscles1ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0001257HP:0031866Clasp-knife sign1ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0001257HP:0002061Lower limb spasticity1ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0001257HP:0002179Opisthotonus1ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0001257HP:0002191Progressive spasticity1ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0001257HP:0001264Spastic diplegia1ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0001257HP:0002464Spastic dysarthria1ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0001257HP:0002064Spastic gait1ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0001257HP:0011099Spastic hemiparesis1ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0001257HP:0001285Spastic tetraparesis1ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0001257HP:0002510Spastic tetraplegia1ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0001257HP:0006986Upper limb spasticity1ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0001257HP:0002491Spasticity of facial muscles1ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0001257HP:0031866Clasp-knife sign1ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0001257HP:0002061Lower limb spasticity1ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0001257HP:0002179Opisthotonus1ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0001257HP:0002191Progressive spasticity1ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0001257HP:0001264Spastic diplegia1ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0001257HP:0002464Spastic dysarthria1ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0001257HP:0002064Spastic gait1ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0001257HP:0011099Spastic hemiparesis1ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0001257HP:0001285Spastic tetraparesis1ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0001257HP:0002510Spastic tetraplegia1ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0001257HP:0006986Upper limb spasticity1ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0001257HP:0002491Spasticity of facial muscles1ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM19810560607640
HP:0001257HP:0031866Clasp-knife sign1ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM19810560607640
HP:0001257HP:0002061Lower limb spasticity1ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM19810560607640
HP:0001257HP:0002179Opisthotonus1ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM19810560607640
HP:0001257HP:0002191Progressive spasticity1ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM19810560607640
HP:0001257HP:0001264Spastic diplegia1ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM19810560607640
HP:0001257HP:0002464Spastic dysarthria1ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM19810560607640
HP:0001257HP:0002064Spastic gait1ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM19810560607640
HP:0001257HP:0011099Spastic hemiparesis1ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM19810560607640
HP:0001257HP:0001285Spastic tetraparesis1ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM19810560607640
HP:0001257HP:0002510Spastic tetraplegia1ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM19810560607640
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM19810560607640
HP:0001257HP:0006986Upper limb spasticity1ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM19810560607640
HP:0001257HP:0002491Spasticity of facial muscles1ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0001257HP:0031866Clasp-knife sign1ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0001257HP:0002061Lower limb spasticity1ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0001257HP:0002179Opisthotonus1ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0001257HP:0002191Progressive spasticity1ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0001257HP:0001264Spastic diplegia1ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0001257HP:0002464Spastic dysarthria1ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0001257HP:0002064Spastic gait1ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0001257HP:0011099Spastic hemiparesis1ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0001257HP:0001285Spastic tetraparesis1ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0001257HP:0002510Spastic tetraplegia1ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0001257HP:0006986Upper limb spasticity1ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0001257HP:0002491Spasticity of facial muscles1ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM18710561603680
HP:0001257HP:0031866Clasp-knife sign1ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM18710561603680
HP:0001257HP:0002061Lower limb spasticity1ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM18710561603680
HP:0001257HP:0002179Opisthotonus1ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM18710561603680
HP:0001257HP:0002191Progressive spasticity1ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM18710561603680
HP:0001257HP:0001264Spastic diplegia1ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM18710561603680
HP:0001257HP:0002464Spastic dysarthria1ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM18710561603680
HP:0001257HP:0002064Spastic gait1ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM18710561603680
HP:0001257HP:0011099Spastic hemiparesis1ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM18710561603680
HP:0001257HP:0001285Spastic tetraparesis1ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM18710561603680
HP:0001257HP:0002510Spastic tetraplegia1ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM18710561603680
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM18710561603680
HP:0001257HP:0006986Upper limb spasticity1ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM18710561603680
HP:0001257HP:0002491Spasticity of facial muscles1B4GAT1 CL E G H11041615287Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13615287C3809042OMIM120515685605517
HP:0001257HP:0031866Clasp-knife sign1B4GAT1 CL E G H11041615287Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13615287C3809042OMIM120515685605517
HP:0001257HP:0002061Lower limb spasticity1B4GAT1 CL E G H11041615287Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13615287C3809042OMIM120515685605517
HP:0001257HP:0002179Opisthotonus1B4GAT1 CL E G H11041615287Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13615287C3809042OMIM120515685605517
HP:0001257HP:0002191Progressive spasticity1B4GAT1 CL E G H11041615287Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13615287C3809042OMIM120515685605517
HP:0001257HP:0001264Spastic diplegia1B4GAT1 CL E G H11041615287Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13615287C3809042OMIM120515685605517
HP:0001257HP:0002464Spastic dysarthria1B4GAT1 CL E G H11041615287Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13615287C3809042OMIM120515685605517
HP:0001257HP:0002064Spastic gait1B4GAT1 CL E G H11041615287Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13615287C3809042OMIM120515685605517
HP:0001257HP:0011099Spastic hemiparesis1B4GAT1 CL E G H11041615287Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13615287C3809042OMIM120515685605517
HP:0001257HP:0001285Spastic tetraparesis1B4GAT1 CL E G H11041615287Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13615287C3809042OMIM120515685605517
HP:0001257HP:0002510Spastic tetraplegia1B4GAT1 CL E G H11041615287Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13615287C3809042OMIM120515685605517
HP:0001257HP:0002501Spasticity of pharyngeal muscles1B4GAT1 CL E G H11041615287Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13615287C3809042OMIM120515685605517
HP:0001257HP:0006986Upper limb spasticity1B4GAT1 CL E G H11041615287Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13615287C3809042OMIM120515685605517
HP:0001257HP:0002491Spasticity of facial muscles1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0001257HP:0031866Clasp-knife sign1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0001257HP:0002061Lower limb spasticity1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0001257HP:0002179Opisthotonus1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0001257HP:0002191Progressive spasticity1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0001257HP:0001264Spastic diplegia1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0001257HP:0002464Spastic dysarthria1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0001257HP:0002064Spastic gait1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0001257HP:0011099Spastic hemiparesis1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0001257HP:0001285Spastic tetraparesis1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0001257HP:0002510Spastic tetraplegia1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0001257HP:0002501Spasticity of pharyngeal muscles1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0001257HP:0006986Upper limb spasticity1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0001257HP:0002491Spasticity of facial muscles1BCL11B CL E G H64919618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES618092CN253429OMIM152513222606558
HP:0001257HP:0031866Clasp-knife sign1BCL11B CL E G H64919618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES618092CN253429OMIM152513222606558
HP:0001257HP:0002061Lower limb spasticity1BCL11B CL E G H64919618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES618092CN253429OMIM152513222606558
HP:0001257HP:0002179Opisthotonus1BCL11B CL E G H64919618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES618092CN253429OMIM152513222606558
HP:0001257HP:0002191Progressive spasticity1BCL11B CL E G H64919618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES618092CN253429OMIM152513222606558
HP:0001257HP:0001264Spastic diplegia1BCL11B CL E G H64919618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES618092CN253429OMIM152513222606558
HP:0001257HP:0002464Spastic dysarthria1BCL11B CL E G H64919618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES618092CN253429OMIM152513222606558
HP:0001257HP:0002064Spastic gait1BCL11B CL E G H64919618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES618092CN253429OMIM152513222606558
HP:0001257HP:0011099Spastic hemiparesis1BCL11B CL E G H64919618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES618092CN253429OMIM152513222606558
HP:0001257HP:0001285Spastic tetraparesis1BCL11B CL E G H64919618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES618092CN253429OMIM152513222606558
HP:0001257HP:0002510Spastic tetraplegia1BCL11B CL E G H64919618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES618092CN253429OMIM152513222606558
HP:0001257HP:0002501Spasticity of pharyngeal muscles1BCL11B CL E G H64919618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES618092CN253429OMIM152513222606558
HP:0001257HP:0006986Upper limb spasticity1BCL11B CL E G H64919618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES618092CN253429OMIM152513222606558
HP:0001257HP:0002491Spasticity of facial muscles1BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0001257HP:0031866Clasp-knife sign1BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0001257HP:0002061Lower limb spasticity1BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0001257HP:0002179Opisthotonus1BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0001257HP:0002191Progressive spasticity1BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0001257HP:0001264Spastic diplegia1BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0001257HP:0002464Spastic dysarthria1BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0001257HP:0002064Spastic gait1BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0001257HP:0011099Spastic hemiparesis1BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0001257HP:0001285Spastic tetraparesis1BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0001257HP:0002510Spastic tetraplegia1BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0001257HP:0002501Spasticity of pharyngeal muscles1BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0001257HP:0006986Upper limb spasticity1BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0001257HP:0002491Spasticity of facial muscles1BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM14131020603647
HP:0001257HP:0031866Clasp-knife sign1BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM14131020603647
HP:0001257HP:0002061Lower limb spasticity1BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM14131020603647
HP:0001257HP:0002179Opisthotonus1BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM14131020603647
HP:0001257HP:0002191Progressive spasticity1BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM14131020603647
HP:0001257HP:0001264Spastic diplegia1BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM14131020603647
HP:0001257HP:0002464Spastic dysarthria1BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM14131020603647
HP:0001257HP:0002064Spastic gait1BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM14131020603647
HP:0001257HP:0011099Spastic hemiparesis1BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM14131020603647
HP:0001257HP:0001285Spastic tetraparesis1BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM14131020603647
HP:0001257HP:0002510Spastic tetraplegia1BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM14131020603647
HP:0001257HP:0002501Spasticity of pharyngeal muscles1BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM14131020603647
HP:0001257HP:0006986Upper limb spasticity1BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM14131020603647
HP:0001257HP:0002491Spasticity of facial muscles1BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM110224415613183
HP:0001257HP:0031866Clasp-knife sign1BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM110224415613183
HP:0001257HP:0002061Lower limb spasticity1BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM110224415613183
HP:0001257HP:0002179Opisthotonus1BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM110224415613183
HP:0001257HP:0002191Progressive spasticity1BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM110224415613183
HP:0001257HP:0001264Spastic diplegia1BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM110224415613183
HP:0001257HP:0002464Spastic dysarthria1BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM110224415613183
HP:0001257HP:0002064Spastic gait1BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM110224415613183
HP:0001257HP:0011099Spastic hemiparesis1BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM110224415613183
HP:0001257HP:0001285Spastic tetraparesis1BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM110224415613183
HP:0001257HP:0002510Spastic tetraplegia1BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM110224415613183
HP:0001257HP:0002501Spasticity of pharyngeal muscles1BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM110224415613183
HP:0001257HP:0006986Upper limb spasticity1BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM110224415613183
HP:0001257HP:0002491Spasticity of facial muscles1BSCL2 CL E G H26580363400ORPHA151015832606158
HP:0001257HP:0031866Clasp-knife sign1BSCL2 CL E G H26580363400ORPHA151015832606158
HP:0001257HP:0002061Lower limb spasticity1BSCL2 CL E G H26580363400ORPHA151015832606158
HP:0001257HP:0002179Opisthotonus1BSCL2 CL E G H26580363400ORPHA151015832606158
HP:0001257HP:0002191Progressive spasticity1BSCL2 CL E G H26580363400ORPHA151015832606158
HP:0001257HP:0001264Spastic diplegia1BSCL2 CL E G H26580363400ORPHA151015832606158
HP:0001257HP:0002464Spastic dysarthria1BSCL2 CL E G H26580363400ORPHA151015832606158
HP:0001257HP:0002064Spastic gait1BSCL2 CL E G H26580363400ORPHA151015832606158
HP:0001257HP:0011099Spastic hemiparesis1BSCL2 CL E G H26580363400ORPHA151015832606158
HP:0001257HP:0001285Spastic tetraparesis1BSCL2 CL E G H26580363400ORPHA151015832606158
HP:0001257HP:0002510Spastic tetraplegia1BSCL2 CL E G H26580363400ORPHA151015832606158
HP:0001257HP:0002501Spasticity of pharyngeal muscles1BSCL2 CL E G H26580363400ORPHA151015832606158
HP:0001257HP:0006986Upper limb spasticity1BSCL2 CL E G H26580363400ORPHA151015832606158
HP:0001257HP:0002491Spasticity of facial muscles1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001257HP:0031866Clasp-knife sign1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001257HP:0002061Lower limb spasticity1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001257HP:0002179Opisthotonus1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001257HP:0002191Progressive spasticity1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001257HP:0001264Spastic diplegia1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001257HP:0002464Spastic dysarthria1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001257HP:0002064Spastic gait1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001257HP:0011099Spastic hemiparesis1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001257HP:0001285Spastic tetraparesis1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001257HP:0002510Spastic tetraplegia1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001257HP:0002501Spasticity of pharyngeal muscles1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001257HP:0006986Upper limb spasticity1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001257HP:0002491Spasticity of facial muscles1C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM130725443614297
HP:0001257HP:0031866Clasp-knife sign1C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM130725443614297
HP:0001257HP:0002061Lower limb spasticity1C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM130725443614297
HP:0001257HP:0002179Opisthotonus1C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM130725443614297
HP:0001257HP:0002191Progressive spasticity1C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM130725443614297
HP:0001257HP:0001264Spastic diplegia1C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM130725443614297
HP:0001257HP:0002464Spastic dysarthria1C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM130725443614297
HP:0001257HP:0002064Spastic gait1C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM130725443614297
HP:0001257HP:0011099Spastic hemiparesis1C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM130725443614297
HP:0001257HP:0001285Spastic tetraparesis1C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM130725443614297
HP:0001257HP:0002510Spastic tetraplegia1C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM130725443614297
HP:0001257HP:0002501Spasticity of pharyngeal muscles1C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM130725443614297
HP:0001257HP:0006986Upper limb spasticity1C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM130725443614297
HP:0001257HP:0002491Spasticity of facial muscles1C19orf12 CL E G H83636615043Spastic paraplegia 43, autosomal recessive615043C2680446OMIM130725443614297
HP:0001257HP:0031866Clasp-knife sign1C19orf12 CL E G H83636615043Spastic paraplegia 43, autosomal recessive615043C2680446OMIM130725443614297
HP:0001257HP:0002061Lower limb spasticity1C19orf12 CL E G H83636615043Spastic paraplegia 43, autosomal recessive615043C2680446OMIM130725443614297
HP:0001257HP:0002179Opisthotonus1C19orf12 CL E G H83636615043Spastic paraplegia 43, autosomal recessive615043C2680446OMIM130725443614297
HP:0001257HP:0002191Progressive spasticity1C19orf12 CL E G H83636615043Spastic paraplegia 43, autosomal recessive615043C2680446OMIM130725443614297
HP:0001257HP:0001264Spastic diplegia1C19orf12 CL E G H83636615043Spastic paraplegia 43, autosomal recessive615043C2680446OMIM130725443614297
HP:0001257HP:0002464Spastic dysarthria1C19orf12 CL E G H83636615043Spastic paraplegia 43, autosomal recessive615043C2680446OMIM130725443614297
HP:0001257HP:0002064Spastic gait1C19orf12 CL E G H83636615043Spastic paraplegia 43, autosomal recessive615043C2680446OMIM130725443614297
HP:0001257HP:0011099Spastic hemiparesis1C19orf12 CL E G H83636615043Spastic paraplegia 43, autosomal recessive615043C2680446OMIM130725443614297
HP:0001257HP:0001285Spastic tetraparesis1C19orf12 CL E G H83636615043Spastic paraplegia 43, autosomal recessive615043C2680446OMIM130725443614297
HP:0001257HP:0002510Spastic tetraplegia1C19orf12 CL E G H83636615043Spastic paraplegia 43, autosomal recessive615043C2680446OMIM130725443614297
HP:0001257HP:0002501Spasticity of pharyngeal muscles1C19orf12 CL E G H83636615043Spastic paraplegia 43, autosomal recessive615043C2680446OMIM130725443614297
HP:0001257HP:0006986Upper limb spasticity1C19orf12 CL E G H83636615043Spastic paraplegia 43, autosomal recessive615043C2680446OMIM130725443614297
HP:0001257HP:0002491Spasticity of facial muscles1C9orf72 CL E G H203228803ORPHA117728337614260
HP:0001257HP:0031866Clasp-knife sign1C9orf72 CL E G H203228803ORPHA117728337614260
HP:0001257HP:0002061Lower limb spasticity1C9orf72 CL E G H203228803ORPHA117728337614260
HP:0001257HP:0002179Opisthotonus1C9orf72 CL E G H203228803ORPHA117728337614260
HP:0001257HP:0002191Progressive spasticity1C9orf72 CL E G H203228803ORPHA117728337614260
HP:0001257HP:0001264Spastic diplegia1C9orf72 CL E G H203228803ORPHA117728337614260
HP:0001257HP:0002464Spastic dysarthria1C9orf72 CL E G H203228803ORPHA117728337614260
HP:0001257HP:0002064Spastic gait1C9orf72 CL E G H203228803ORPHA117728337614260
HP:0001257HP:0011099Spastic hemiparesis1C9orf72 CL E G H203228803ORPHA117728337614260
HP:0001257HP:0001285Spastic tetraparesis1C9orf72 CL E G H203228803ORPHA117728337614260
HP:0001257HP:0002510Spastic tetraplegia1C9orf72 CL E G H203228803ORPHA117728337614260
HP:0001257HP:0002501Spasticity of pharyngeal muscles1C9orf72 CL E G H203228803ORPHA117728337614260
HP:0001257HP:0006986Upper limb spasticity1C9orf72 CL E G H203228803ORPHA117728337614260
HP:0001257HP:0002491Spasticity of facial muscles1CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM18221394604065
HP:0001257HP:0031866Clasp-knife sign1CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM18221394604065
HP:0001257HP:0002061Lower limb spasticity1CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM18221394604065
HP:0001257HP:0002179Opisthotonus1CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM18221394604065
HP:0001257HP:0002191Progressive spasticity1CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM18221394604065
HP:0001257HP:0001264Spastic diplegia1CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM18221394604065
HP:0001257HP:0002464Spastic dysarthria1CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM18221394604065
HP:0001257HP:0002064Spastic gait1CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM18221394604065
HP:0001257HP:0011099Spastic hemiparesis1CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM18221394604065
HP:0001257HP:0001285Spastic tetraparesis1CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM18221394604065
HP:0001257HP:0002510Spastic tetraplegia1CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM18221394604065
HP:0001257HP:0002501Spasticity of pharyngeal muscles1CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM18221394604065
HP:0001257HP:0006986Upper limb spasticity1CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM18221394604065
HP:0001257HP:0002491Spasticity of facial muscles1CAMK2A CL E G H815618095MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63618095CN253430OMIM11161460114078
HP:0001257HP:0031866Clasp-knife sign1CAMK2A CL E G H815618095MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63618095CN253430OMIM11161460114078
HP:0001257HP:0002061Lower limb spasticity1CAMK2A CL E G H815618095MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63618095CN253430OMIM11161460114078
HP:0001257HP:0002179Opisthotonus1CAMK2A CL E G H815618095MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63618095CN253430OMIM11161460114078
HP:0001257HP:0002191Progressive spasticity1CAMK2A CL E G H815618095MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63618095CN253430OMIM11161460114078
HP:0001257HP:0001264Spastic diplegia1CAMK2A CL E G H815618095MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63618095CN253430OMIM11161460114078
HP:0001257HP:0002464Spastic dysarthria1CAMK2A CL E G H815618095MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63618095CN253430OMIM11161460114078
HP:0001257HP:0002064Spastic gait1CAMK2A CL E G H815618095MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63618095CN253430OMIM11161460114078
HP:0001257HP:0011099Spastic hemiparesis1CAMK2A CL E G H815618095MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63618095CN253430OMIM11161460114078
HP:0001257HP:0001285Spastic tetraparesis1CAMK2A CL E G H815618095MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63618095CN253430OMIM11161460114078
HP:0001257HP:0002510Spastic tetraplegia1CAMK2A CL E G H815618095MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63618095CN253430OMIM11161460114078
HP:0001257HP:0002501Spasticity of pharyngeal muscles1CAMK2A CL E G H815618095MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63618095CN253430OMIM11161460114078
HP:0001257HP:0006986Upper limb spasticity1CAMK2A CL E G H815618095MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63618095CN253430OMIM11161460114078
HP:0001257HP:0002491Spasticity of facial muscles1CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM18441497300172
HP:0001257HP:0031866Clasp-knife sign1CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM18441497300172
HP:0001257HP:0002061Lower limb spasticity1CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM18441497300172
HP:0001257HP:0002179Opisthotonus1CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM18441497300172
HP:0001257HP:0002191Progressive spasticity1CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM18441497300172
HP:0001257HP:0001264Spastic diplegia1CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM18441497300172
HP:0001257HP:0002464Spastic dysarthria1CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM18441497300172
HP:0001257HP:0002064Spastic gait1CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM18441497300172
HP:0001257HP:0011099Spastic hemiparesis1CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM18441497300172
HP:0001257HP:0001285Spastic tetraparesis1CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM18441497300172
HP:0001257HP:0002510Spastic tetraplegia1CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM18441497300172
HP:0001257HP:0002501Spasticity of pharyngeal muscles1CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM18441497300172
HP:0001257HP:0006986Upper limb spasticity1CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM18441497300172
HP:0001257HP:0002491Spasticity of facial muscles1CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1152529253612013
HP:0001257HP:0031866Clasp-knife sign1CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1152529253612013
HP:0001257HP:0002061Lower limb spasticity1CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1152529253612013
HP:0001257HP:0002179Opisthotonus1CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1152529253612013
HP:0001257HP:0002191Progressive spasticity1CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1152529253612013
HP:0001257HP:0001264Spastic diplegia1CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1152529253612013
HP:0001257HP:0002464Spastic dysarthria1CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1152529253612013
HP:0001257HP:0002064Spastic gait1CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1152529253612013
HP:0001257HP:0011099Spastic hemiparesis1CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1152529253612013
HP:0001257HP:0001285Spastic tetraparesis1CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1152529253612013
HP:0001257HP:0002510Spastic tetraplegia1CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1152529253612013
HP:0001257HP:0002501Spasticity of pharyngeal muscles1CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1152529253612013
HP:0001257HP:0006986Upper limb spasticity1CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1152529253612013
HP:0001257HP:0002491Spasticity of facial muscles1CCNF CL E G H899803ORPHA11511591600227
HP:0001257HP:0031866Clasp-knife sign1CCNF CL E G H899803ORPHA11511591600227
HP:0001257HP:0002061Lower limb spasticity1CCNF CL E G H899803ORPHA11511591600227
HP:0001257HP:0002179Opisthotonus1CCNF CL E G H899803ORPHA11511591600227
HP:0001257HP:0002191Progressive spasticity1CCNF CL E G H899803ORPHA11511591600227
HP:0001257HP:0001264Spastic diplegia1CCNF CL E G H899803ORPHA11511591600227
HP:0001257HP:0002464Spastic dysarthria1CCNF CL E G H899803ORPHA11511591600227
HP:0001257HP:0002064Spastic gait1CCNF CL E G H899803ORPHA11511591600227
HP:0001257HP:0011099Spastic hemiparesis1CCNF CL E G H899803ORPHA11511591600227
HP:0001257HP:0001285Spastic tetraparesis1CCNF CL E G H899803ORPHA11511591600227
HP:0001257HP:0002510Spastic tetraplegia1CCNF CL E G H899803ORPHA11511591600227
HP:0001257HP:0002501Spasticity of pharyngeal muscles1CCNF CL E G H899803ORPHA11511591600227
HP:0001257HP:0006986Upper limb spasticity1CCNF CL E G H899803ORPHA11511591600227
HP:0001257HP:0002491Spasticity of facial muscles1CDKL5 CL E G H67923095ORPHA1173811411300203
HP:0001257HP:0031866Clasp-knife sign1CDKL5 CL E G H67923095ORPHA1173811411300203
HP:0001257HP:0002061Lower limb spasticity1CDKL5 CL E G H67923095ORPHA1173811411300203
HP:0001257HP:0002179Opisthotonus1CDKL5 CL E G H67923095ORPHA1173811411300203
HP:0001257HP:0002191Progressive spasticity1CDKL5 CL E G H67923095ORPHA1173811411300203
HP:0001257HP:0001264Spastic diplegia1CDKL5 CL E G H67923095ORPHA1173811411300203
HP:0001257HP:0002464Spastic dysarthria1CDKL5 CL E G H67923095ORPHA1173811411300203
HP:0001257HP:0002064Spastic gait1CDKL5 CL E G H67923095ORPHA1173811411300203
HP:0001257HP:0011099Spastic hemiparesis1CDKL5 CL E G H67923095ORPHA1173811411300203
HP:0001257HP:0001285Spastic tetraparesis1CDKL5 CL E G H67923095ORPHA1173811411300203
HP:0001257HP:0002510Spastic tetraplegia1CDKL5 CL E G H67923095ORPHA1173811411300203
HP:0001257HP:0002501Spasticity of pharyngeal muscles1CDKL5 CL E G H67923095ORPHA1173811411300203
HP:0001257HP:0006986Upper limb spasticity1CDKL5 CL E G H67923095ORPHA1173811411300203
HP:0001257HP:0002491Spasticity of facial muscles1CFAP410 CL E G H755803ORPHA14591260603191
HP:0001257HP:0031866Clasp-knife sign1CFAP410 CL E G H755803ORPHA14591260603191
HP:0001257HP:0002061Lower limb spasticity1CFAP410 CL E G H755803ORPHA14591260603191
HP:0001257HP:0002179Opisthotonus1CFAP410 CL E G H755803ORPHA14591260603191
HP:0001257HP:0002191Progressive spasticity1CFAP410 CL E G H755803ORPHA14591260603191
HP:0001257HP:0001264Spastic diplegia1CFAP410 CL E G H755803ORPHA14591260603191
HP:0001257HP:0002464Spastic dysarthria1CFAP410 CL E G H755803ORPHA14591260603191
HP:0001257HP:0002064Spastic gait1CFAP410 CL E G H755803ORPHA14591260603191
HP:0001257HP:0011099Spastic hemiparesis1CFAP410 CL E G H755803ORPHA14591260603191
HP:0001257HP:0001285Spastic tetraparesis1CFAP410 CL E G H755803ORPHA14591260603191
HP:0001257HP:0002510Spastic tetraplegia1CFAP410 CL E G H755803ORPHA14591260603191
HP:0001257HP:0002501Spasticity of pharyngeal muscles1CFAP410 CL E G H755803ORPHA14591260603191
HP:0001257HP:0006986Upper limb spasticity1CFAP410 CL E G H755803ORPHA14591260603191
HP:0001257HP:0002491Spasticity of facial muscles1CHCHD10 CL E G H400916803ORPHA129715559615903
HP:0001257HP:0031866Clasp-knife sign1CHCHD10 CL E G H400916803ORPHA129715559615903
HP:0001257HP:0002061Lower limb spasticity1CHCHD10 CL E G H400916803ORPHA129715559615903
HP:0001257HP:0002179Opisthotonus1CHCHD10 CL E G H400916803ORPHA129715559615903
HP:0001257HP:0002191Progressive spasticity1CHCHD10 CL E G H400916803ORPHA129715559615903
HP:0001257HP:0001264Spastic diplegia1CHCHD10 CL E G H400916803ORPHA129715559615903
HP:0001257HP:0002464Spastic dysarthria1CHCHD10 CL E G H400916803ORPHA129715559615903
HP:0001257HP:0002064Spastic gait1CHCHD10 CL E G H400916803ORPHA129715559615903
HP:0001257HP:0011099Spastic hemiparesis1CHCHD10 CL E G H400916803ORPHA129715559615903
HP:0001257HP:0001285Spastic tetraparesis1CHCHD10 CL E G H400916803ORPHA129715559615903
HP:0001257HP:0002510Spastic tetraplegia1CHCHD10 CL E G H400916803ORPHA129715559615903
HP:0001257HP:0002501Spasticity of pharyngeal muscles1CHCHD10 CL E G H400916803ORPHA129715559615903
HP:0001257HP:0006986Upper limb spasticity1CHCHD10 CL E G H400916803ORPHA129715559615903
HP:0001257HP:0002491Spasticity of facial muscles1CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM12488740164010
HP:0001257HP:0031866Clasp-knife sign1CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM12488740164010
HP:0001257HP:0002061Lower limb spasticity1CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM12488740164010
HP:0001257HP:0002179Opisthotonus1CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM12488740164010
HP:0001257HP:0002191Progressive spasticity1CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM12488740164010
HP:0001257HP:0001264Spastic diplegia1CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM12488740164010
HP:0001257HP:0002464Spastic dysarthria1CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM12488740164010
HP:0001257HP:0002064Spastic gait1CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM12488740164010
HP:0001257HP:0011099Spastic hemiparesis1CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM12488740164010
HP:0001257HP:0001285Spastic tetraparesis1CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM12488740164010
HP:0001257HP:0002510Spastic tetraplegia1CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM12488740164010
HP:0001257HP:0002501Spasticity of pharyngeal muscles1CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM12488740164010
HP:0001257HP:0006986Upper limb spasticity1CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM12488740164010
HP:0001257HP:0002491Spasticity of facial muscles1CHMP2B CL E G H25978803ORPHA116024537609512
HP:0001257HP:0031866Clasp-knife sign1CHMP2B CL E G H25978803ORPHA116024537609512
HP:0001257HP:0002061Lower limb spasticity1CHMP2B CL E G H25978803ORPHA116024537609512
HP:0001257HP:0002179Opisthotonus1CHMP2B CL E G H25978803ORPHA116024537609512
HP:0001257HP:0002191Progressive spasticity1CHMP2B CL E G H25978803ORPHA116024537609512
HP:0001257HP:0001264Spastic diplegia1CHMP2B CL E G H25978803ORPHA116024537609512
HP:0001257HP:0002464Spastic dysarthria1CHMP2B CL E G H25978803ORPHA116024537609512
HP:0001257HP:0002064Spastic gait1CHMP2B CL E G H25978803ORPHA116024537609512
HP:0001257HP:0011099Spastic hemiparesis1CHMP2B CL E G H25978803ORPHA116024537609512
HP:0001257HP:0001285Spastic tetraparesis1CHMP2B CL E G H25978803ORPHA116024537609512
HP:0001257HP:0002510Spastic tetraplegia1CHMP2B CL E G H25978803ORPHA116024537609512
HP:0001257HP:0002501Spasticity of pharyngeal muscles1CHMP2B CL E G H25978803ORPHA116024537609512
HP:0001257HP:0006986Upper limb spasticity1CHMP2B CL E G H25978803ORPHA116024537609512
HP:0001257HP:0002491Spasticity of facial muscles1CIT CL E G H11113617090Microcephaly 17, primary, autosomal recessive617090C4310723OMIM15141985605629
HP:0001257HP:0031866Clasp-knife sign1CIT CL E G H11113617090Microcephaly 17, primary, autosomal recessive617090C4310723OMIM15141985605629
HP:0001257HP:0002061Lower limb spasticity1CIT CL E G H11113617090Microcephaly 17, primary, autosomal recessive617090C4310723OMIM15141985605629
HP:0001257HP:0002179Opisthotonus1CIT CL E G H11113617090Microcephaly 17, primary, autosomal recessive617090C4310723OMIM15141985605629
HP:0001257HP:0002191Progressive spasticity1CIT CL E G H11113617090Microcephaly 17, primary, autosomal recessive617090C4310723OMIM15141985605629
HP:0001257HP:0001264Spastic diplegia1CIT CL E G H11113617090Microcephaly 17, primary, autosomal recessive617090C4310723OMIM15141985605629
HP:0001257HP:0002464Spastic dysarthria1CIT CL E G H11113617090Microcephaly 17, primary, autosomal recessive617090C4310723OMIM15141985605629
HP:0001257HP:0002064Spastic gait1CIT CL E G H11113617090Microcephaly 17, primary, autosomal recessive617090C4310723OMIM15141985605629
HP:0001257HP:0011099Spastic hemiparesis1CIT CL E G H11113617090Microcephaly 17, primary, autosomal recessive617090C4310723OMIM15141985605629
HP:0001257HP:0001285Spastic tetraparesis1CIT CL E G H11113617090Microcephaly 17, primary, autosomal recessive617090C4310723OMIM15141985605629
HP:0001257HP:0002510Spastic tetraplegia1CIT CL E G H11113617090Microcephaly 17, primary, autosomal recessive617090C4310723OMIM15141985605629
HP:0001257HP:0002501Spasticity of pharyngeal muscles1CIT CL E G H11113617090Microcephaly 17, primary, autosomal recessive617090C4310723OMIM15141985605629
HP:0001257HP:0006986Upper limb spasticity1CIT CL E G H11113617090Microcephaly 17, primary, autosomal recessive617090C4310723OMIM15141985605629
HP:0001257HP:0002491Spasticity of facial muscles1CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA116826877616174
HP:0001257HP:0031866Clasp-knife sign1CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA116826877616174
HP:0001257HP:0002061Lower limb spasticity1CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA116826877616174
HP:0001257HP:0002179Opisthotonus1CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA116826877616174
HP:0001257HP:0002191Progressive spasticity1CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA116826877616174
HP:0001257HP:0001264Spastic diplegia1CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA116826877616174
HP:0001257HP:0002464Spastic dysarthria1CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA116826877616174
HP:0001257HP:0002064Spastic gait1CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA116826877616174
HP:0001257HP:0011099Spastic hemiparesis1CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA116826877616174
HP:0001257HP:0001285Spastic tetraparesis1CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA116826877616174
HP:0001257HP:0002510Spastic tetraplegia1CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA116826877616174
HP:0001257HP:0002501Spasticity of pharyngeal muscles1CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA116826877616174
HP:0001257HP:0006986Upper limb spasticity1CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA116826877616174
HP:0001257HP:0002491Spasticity of facial muscles1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0001257HP:0031866Clasp-knife sign1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0001257HP:0002061Lower limb spasticity1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0001257HP:0002179Opisthotonus1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0001257HP:0002191Progressive spasticity1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0001257HP:0001264Spastic diplegia1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0001257HP:0002464Spastic dysarthria1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0001257HP:0002064Spastic gait1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0001257HP:0011099Spastic hemiparesis1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0001257HP:0001285Spastic tetraparesis1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0001257HP:0002510Spastic tetraplegia1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0001257HP:0002501Spasticity of pharyngeal muscles1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0001257HP:0006986Upper limb spasticity1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0001257HP:0002491Spasticity of facial muscles1CLP1 CL E G H10978411493ORPHA19716999608757
HP:0001257HP:0031866Clasp-knife sign1CLP1 CL E G H10978411493ORPHA19716999608757
HP:0001257HP:0002061Lower limb spasticity1CLP1 CL E G H10978411493ORPHA19716999608757
HP:0001257HP:0002179Opisthotonus1CLP1 CL E G H10978411493ORPHA19716999608757
HP:0001257HP:0002191Progressive spasticity1CLP1 CL E G H10978411493ORPHA19716999608757
HP:0001257HP:0001264Spastic diplegia1CLP1 CL E G H10978411493ORPHA19716999608757
HP:0001257HP:0002464Spastic dysarthria1CLP1 CL E G H10978411493ORPHA19716999608757
HP:0001257HP:0002064Spastic gait1CLP1 CL E G H10978411493ORPHA19716999608757
HP:0001257HP:0011099Spastic hemiparesis1CLP1 CL E G H10978411493ORPHA19716999608757
HP:0001257HP:0001285Spastic tetraparesis1CLP1 CL E G H10978411493ORPHA19716999608757
HP:0001257HP:0002510Spastic tetraplegia1CLP1 CL E G H10978411493ORPHA19716999608757
HP:0001257HP:0002501Spasticity of pharyngeal muscles1CLP1 CL E G H10978411493ORPHA19716999608757
HP:0001257HP:0006986Upper limb spasticity1CLP1 CL E G H10978411493ORPHA19716999608757
HP:0001257HP:0002491Spasticity of facial muscles1CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM19716999608757
HP:0001257HP:0031866Clasp-knife sign1CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM19716999608757
HP:0001257HP:0002061Lower limb spasticity1CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM19716999608757
HP:0001257HP:0002179Opisthotonus1CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM19716999608757
HP:0001257HP:0002191Progressive spasticity1CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM19716999608757
HP:0001257HP:0001264Spastic diplegia1CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM19716999608757
HP:0001257HP:0002464Spastic dysarthria1CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM19716999608757
HP:0001257HP:0002064Spastic gait1CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM19716999608757
HP:0001257HP:0011099Spastic hemiparesis1CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM19716999608757
HP:0001257HP:0001285Spastic tetraparesis1CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM19716999608757
HP:0001257HP:0002510Spastic tetraplegia1CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM19716999608757
HP:0001257HP:0002501Spasticity of pharyngeal muscles1CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM19716999608757
HP:0001257HP:0006986Upper limb spasticity1CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM19716999608757
HP:0001257HP:0002491Spasticity of facial muscles1CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM158530664616254
HP:0001257HP:0031866Clasp-knife sign1CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM158530664616254
HP:0001257HP:0002061Lower limb spasticity1CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM158530664616254
HP:0001257HP:0002179Opisthotonus1CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM158530664616254
HP:0001257HP:0002191Progressive spasticity1CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM158530664616254
HP:0001257HP:0001264Spastic diplegia1CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM158530664616254
HP:0001257HP:0002464Spastic dysarthria1CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM158530664616254
HP:0001257HP:0002064Spastic gait1CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM158530664616254
HP:0001257HP:0011099Spastic hemiparesis1CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM158530664616254
HP:0001257HP:0001285Spastic tetraparesis1CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM158530664616254
HP:0001257HP:0002510Spastic tetraplegia1CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM158530664616254
HP:0001257HP:0002501Spasticity of pharyngeal muscles1CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM158530664616254
HP:0001257HP:0006986Upper limb spasticity1CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM158530664616254
HP:0001257HP:0002491Spasticity of facial muscles1CLTC CL E G H1213617854MENTAL RETARDATION, AUTOSOMAL DOMINANT 56617854CN787270OMIM16452092118955
HP:0001257HP:0031866Clasp-knife sign1CLTC CL E G H1213617854MENTAL RETARDATION, AUTOSOMAL DOMINANT 56617854CN787270OMIM16452092118955
HP:0001257HP:0002061Lower limb spasticity1CLTC CL E G H1213617854MENTAL RETARDATION, AUTOSOMAL DOMINANT 56617854CN787270OMIM16452092118955
HP:0001257HP:0002179Opisthotonus1CLTC CL E G H1213617854MENTAL RETARDATION, AUTOSOMAL DOMINANT 56617854CN787270OMIM16452092118955
HP:0001257HP:0002191Progressive spasticity1CLTC CL E G H1213617854MENTAL RETARDATION, AUTOSOMAL DOMINANT 56617854CN787270OMIM16452092118955
HP:0001257HP:0001264Spastic diplegia1CLTC CL E G H1213617854MENTAL RETARDATION, AUTOSOMAL DOMINANT 56617854CN787270OMIM16452092118955
HP:0001257HP:0002464Spastic dysarthria1CLTC CL E G H1213617854MENTAL RETARDATION, AUTOSOMAL DOMINANT 56617854CN787270OMIM16452092118955
HP:0001257HP:0002064Spastic gait1CLTC CL E G H1213617854MENTAL RETARDATION, AUTOSOMAL DOMINANT 56617854CN787270OMIM16452092118955
HP:0001257HP:0011099Spastic hemiparesis1CLTC CL E G H1213617854MENTAL RETARDATION, AUTOSOMAL DOMINANT 56617854CN787270OMIM16452092118955
HP:0001257HP:0001285Spastic tetraparesis1CLTC CL E G H1213617854MENTAL RETARDATION, AUTOSOMAL DOMINANT 56617854CN787270OMIM16452092118955
HP:0001257HP:0002510Spastic tetraplegia1CLTC CL E G H1213617854MENTAL RETARDATION, AUTOSOMAL DOMINANT 56617854CN787270OMIM16452092118955
HP:0001257HP:0002501Spasticity of pharyngeal muscles1CLTC CL E G H1213617854MENTAL RETARDATION, AUTOSOMAL DOMINANT 56617854CN787270OMIM16452092118955
HP:0001257HP:0006986Upper limb spasticity1CLTC CL E G H1213617854MENTAL RETARDATION, AUTOSOMAL DOMINANT 56617854CN787270OMIM16452092118955
HP:0001257HP:0002491Spasticity of facial muscles1CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM14258011602346
HP:0001257HP:0031866Clasp-knife sign1CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM14258011602346
HP:0001257HP:0002061Lower limb spasticity1CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM14258011602346
HP:0001257HP:0002179Opisthotonus1CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM14258011602346
HP:0001257HP:0002191Progressive spasticity1CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM14258011602346
HP:0001257HP:0001264Spastic diplegia1CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM14258011602346
HP:0001257HP:0002464Spastic dysarthria1CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM14258011602346
HP:0001257HP:0002064Spastic gait1CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM14258011602346
HP:0001257HP:0011099Spastic hemiparesis1CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM14258011602346
HP:0001257HP:0001285Spastic tetraparesis1CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM14258011602346
HP:0001257HP:0002510Spastic tetraplegia1CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM14258011602346
HP:0001257HP:0002501Spasticity of pharyngeal muscles1CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM14258011602346
HP:0001257HP:0006986Upper limb spasticity1CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM14258011602346
HP:0001257HP:0002491Spasticity of facial muscles1CNTNAP2 CL E G H26047610042Pitt-Hopkins-like syndrome 1610042C2750246OMIM1186713830604569
HP:0001257HP:0031866Clasp-knife sign1CNTNAP2 CL E G H26047610042Pitt-Hopkins-like syndrome 1610042C2750246OMIM1186713830604569
HP:0001257HP:0002061Lower limb spasticity1CNTNAP2 CL E G H26047610042Pitt-Hopkins-like syndrome 1610042C2750246OMIM1186713830604569
HP:0001257HP:0002179Opisthotonus1CNTNAP2 CL E G H26047610042Pitt-Hopkins-like syndrome 1610042C2750246OMIM1186713830604569
HP:0001257HP:0002191Progressive spasticity1CNTNAP2 CL E G H26047610042Pitt-Hopkins-like syndrome 1610042C2750246OMIM1186713830604569
HP:0001257HP:0001264Spastic diplegia1CNTNAP2 CL E G H26047610042Pitt-Hopkins-like syndrome 1610042C2750246OMIM1186713830604569
HP:0001257HP:0002464Spastic dysarthria1CNTNAP2 CL E G H26047610042Pitt-Hopkins-like syndrome 1610042C2750246OMIM1186713830604569
HP:0001257HP:0002064Spastic gait1CNTNAP2 CL E G H26047610042Pitt-Hopkins-like syndrome 1610042C2750246OMIM1186713830604569
HP:0001257HP:0011099Spastic hemiparesis1CNTNAP2 CL E G H26047610042Pitt-Hopkins-like syndrome 1610042C2750246OMIM1186713830604569
HP:0001257HP:0001285Spastic tetraparesis1CNTNAP2 CL E G H26047610042Pitt-Hopkins-like syndrome 1610042C2750246OMIM1186713830604569
HP:0001257HP:0002510Spastic tetraplegia1CNTNAP2 CL E G H26047610042Pitt-Hopkins-like syndrome 1610042C2750246OMIM1186713830604569
HP:0001257HP:0002501Spasticity of pharyngeal muscles1CNTNAP2 CL E G H26047610042Pitt-Hopkins-like syndrome 1610042C2750246OMIM1186713830604569
HP:0001257HP:0006986Upper limb spasticity1CNTNAP2 CL E G H26047610042Pitt-Hopkins-like syndrome 1610042C2750246OMIM1186713830604569
HP:0001257HP:0002491Spasticity of facial muscles1COL4A1 CL E G H1282175780Porencephaly 1175780CN032791OMIM117852202120130
HP:0001257HP:0031866Clasp-knife sign1COL4A1 CL E G H1282175780Porencephaly 1175780CN032791OMIM117852202120130
HP:0001257HP:0002061Lower limb spasticity1COL4A1 CL E G H1282175780Porencephaly 1175780CN032791OMIM117852202120130
HP:0001257HP:0002179Opisthotonus1COL4A1 CL E G H1282175780Porencephaly 1175780CN032791OMIM117852202120130
HP:0001257HP:0002191Progressive spasticity1COL4A1 CL E G H1282175780Porencephaly 1175780CN032791OMIM117852202120130
HP:0001257HP:0001264Spastic diplegia1COL4A1 CL E G H1282175780Porencephaly 1175780CN032791OMIM117852202120130
HP:0001257HP:0002464Spastic dysarthria1COL4A1 CL E G H1282175780Porencephaly 1175780CN032791OMIM117852202120130
HP:0001257HP:0002064Spastic gait1COL4A1 CL E G H1282175780Porencephaly 1175780CN032791OMIM117852202120130
HP:0001257HP:0011099Spastic hemiparesis1COL4A1 CL E G H1282175780Porencephaly 1175780CN032791OMIM117852202120130
HP:0001257HP:0001285Spastic tetraparesis1COL4A1 CL E G H1282175780Porencephaly 1175780CN032791OMIM117852202120130
HP:0001257HP:0002510Spastic tetraplegia1COL4A1 CL E G H1282175780Porencephaly 1175780CN032791OMIM117852202120130
HP:0001257HP:0002501Spasticity of pharyngeal muscles1COL4A1 CL E G H1282175780Porencephaly 1175780CN032791OMIM117852202120130
HP:0001257HP:0006986Upper limb spasticity1COL4A1 CL E G H1282175780Porencephaly 1175780CN032791OMIM117852202120130
HP:0001257HP:0002491Spasticity of facial muscles1COL4A2 CL E G H1284614483Porencephaly 2614483C3280970OMIM113712203120090
HP:0001257HP:0031866Clasp-knife sign1COL4A2 CL E G H1284614483Porencephaly 2614483C3280970OMIM113712203120090
HP:0001257HP:0002061Lower limb spasticity1COL4A2 CL E G H1284614483Porencephaly 2614483C3280970OMIM113712203120090
HP:0001257HP:0002179Opisthotonus1COL4A2 CL E G H1284614483Porencephaly 2614483C3280970OMIM113712203120090
HP:0001257HP:0002191Progressive spasticity1COL4A2 CL E G H1284614483Porencephaly 2614483C3280970OMIM113712203120090
HP:0001257HP:0001264Spastic diplegia1COL4A2 CL E G H1284614483Porencephaly 2614483C3280970OMIM113712203120090
HP:0001257HP:0002464Spastic dysarthria1COL4A2 CL E G H1284614483Porencephaly 2614483C3280970OMIM113712203120090
HP:0001257HP:0002064Spastic gait1COL4A2 CL E G H1284614483Porencephaly 2614483C3280970OMIM113712203120090
HP:0001257HP:0011099Spastic hemiparesis1COL4A2 CL E G H1284614483Porencephaly 2614483C3280970OMIM113712203120090
HP:0001257HP:0001285Spastic tetraparesis1COL4A2 CL E G H1284614483Porencephaly 2614483C3280970OMIM113712203120090
HP:0001257HP:0002510Spastic tetraplegia1COL4A2 CL E G H1284614483Porencephaly 2614483C3280970OMIM113712203120090
HP:0001257HP:0002501Spasticity of pharyngeal muscles1COL4A2 CL E G H1284614483Porencephaly 2614483C3280970OMIM113712203120090
HP:0001257HP:0006986Upper limb spasticity1COL4A2 CL E G H1284614483Porencephaly 2614483C3280970OMIM113712203120090
HP:0001257HP:0002491Spasticity of facial muscles1COPB2 CL E G H9276617800MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE617800C4540488OMIM1992232606990
HP:0001257HP:0031866Clasp-knife sign1COPB2 CL E G H9276617800MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE617800C4540488OMIM1992232606990
HP:0001257HP:0002061Lower limb spasticity1COPB2 CL E G H9276617800MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE617800C4540488OMIM1992232606990
HP:0001257HP:0002179Opisthotonus1COPB2 CL E G H9276617800MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE617800C4540488OMIM1992232606990
HP:0001257HP:0002191Progressive spasticity1COPB2 CL E G H9276617800MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE617800C4540488OMIM1992232606990
HP:0001257HP:0001264Spastic diplegia1COPB2 CL E G H9276617800MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE617800C4540488OMIM1992232606990
HP:0001257HP:0002464Spastic dysarthria1COPB2 CL E G H9276617800MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE617800C4540488OMIM1992232606990
HP:0001257HP:0002064Spastic gait1COPB2 CL E G H9276617800MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE617800C4540488OMIM1992232606990
HP:0001257HP:0011099Spastic hemiparesis1COPB2 CL E G H9276617800MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE617800C4540488OMIM1992232606990
HP:0001257HP:0001285Spastic tetraparesis1COPB2 CL E G H9276617800MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE617800C4540488OMIM1992232606990
HP:0001257HP:0002510Spastic tetraplegia1COPB2 CL E G H9276617800MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE617800C4540488OMIM1992232606990
HP:0001257HP:0002501Spasticity of pharyngeal muscles1COPB2 CL E G H9276617800MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE617800C4540488OMIM1992232606990
HP:0001257HP:0006986Upper limb spasticity1COPB2 CL E G H9276617800MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE617800C4540488OMIM1992232606990
HP:0001257HP:0002491Spasticity of facial muscles1COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0001257HP:0031866Clasp-knife sign1COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0001257HP:0002061Lower limb spasticity1COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0001257HP:0002179Opisthotonus1COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0001257HP:0002191Progressive spasticity1COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0001257HP:0001264Spastic diplegia1COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0001257HP:0002464Spastic dysarthria1COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0001257HP:0002064Spastic gait1COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0001257HP:0011099Spastic hemiparesis1COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0001257HP:0001285Spastic tetraparesis1COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0001257HP:0002510Spastic tetraplegia1COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0001257HP:0002501Spasticity of pharyngeal muscles1COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0001257HP:0006986Upper limb spasticity1COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0001257HP:0002491Spasticity of facial muscles1COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0001257HP:0031866Clasp-knife sign1COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0001257HP:0002061Lower limb spasticity1COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0001257HP:0002179Opisthotonus1COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0001257HP:0002191Progressive spasticity1COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0001257HP:0001264Spastic diplegia1COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0001257HP:0002464Spastic dysarthria1COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0001257HP:0002064Spastic gait1COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0001257HP:0011099Spastic hemiparesis1COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0001257HP:0001285Spastic tetraparesis1COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0001257HP:0002510Spastic tetraplegia1COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0001257HP:0002501Spasticity of pharyngeal muscles1COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0001257HP:0006986Upper limb spasticity1COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0001257HP:0002491Spasticity of facial muscles1CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM16962433164770
HP:0001257HP:0031866Clasp-knife sign1CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM16962433164770
HP:0001257HP:0002061Lower limb spasticity1CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM16962433164770
HP:0001257HP:0002179Opisthotonus1CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM16962433164770
HP:0001257HP:0002191Progressive spasticity1CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM16962433164770
HP:0001257HP:0001264Spastic diplegia1CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM16962433164770
HP:0001257HP:0002464Spastic dysarthria1CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM16962433164770
HP:0001257HP:0002064Spastic gait1CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM16962433164770
HP:0001257HP:0011099Spastic hemiparesis1CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM16962433164770
HP:0001257HP:0001285Spastic tetraparesis1CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM16962433164770
HP:0001257HP:0002510Spastic tetraplegia1CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM16962433164770
HP:0001257HP:0002501Spasticity of pharyngeal muscles1CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM16962433164770
HP:0001257HP:0006986Upper limb spasticity1CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM16962433164770
HP:0001257HP:0002491Spasticity of facial muscles1CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0001257HP:0031866Clasp-knife sign1CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0001257HP:0002061Lower limb spasticity1CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0001257HP:0002179Opisthotonus1CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0001257HP:0002191Progressive spasticity1CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0001257HP:0001264Spastic diplegia1CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0001257HP:0002464Spastic dysarthria1CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0001257HP:0002064Spastic gait1CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0001257HP:0011099Spastic hemiparesis1CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0001257HP:0001285Spastic tetraparesis1CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0001257HP:0002510Spastic tetraplegia1CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0001257HP:0002501Spasticity of pharyngeal muscles1CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0001257HP:0006986Upper limb spasticity1CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0001257HP:0002491Spasticity of facial muscles1CTSD CL E G H1509610127Ceroid lipofuscinosis neuronal 10610127C1864669OMIM16692529116840
HP:0001257HP:0031866Clasp-knife sign1CTSD CL E G H1509610127Ceroid lipofuscinosis neuronal 10610127C1864669OMIM16692529116840
HP:0001257HP:0002061Lower limb spasticity1CTSD CL E G H1509610127Ceroid lipofuscinosis neuronal 10610127C1864669OMIM16692529116840
HP:0001257HP:0002179Opisthotonus1CTSD CL E G H1509610127Ceroid lipofuscinosis neuronal 10610127C1864669OMIM16692529116840
HP:0001257HP:0002191Progressive spasticity1CTSD CL E G H1509610127Ceroid lipofuscinosis neuronal 10610127C1864669OMIM16692529116840
HP:0001257HP:0001264Spastic diplegia1CTSD CL E G H1509610127Ceroid lipofuscinosis neuronal 10610127C1864669OMIM16692529116840
HP:0001257HP:0002464Spastic dysarthria1CTSD CL E G H1509610127Ceroid lipofuscinosis neuronal 10610127C1864669OMIM16692529116840
HP:0001257HP:0002064Spastic gait1CTSD CL E G H1509610127Ceroid lipofuscinosis neuronal 10610127C1864669OMIM16692529116840
HP:0001257HP:0011099Spastic hemiparesis1CTSD CL E G H1509610127Ceroid lipofuscinosis neuronal 10610127C1864669OMIM16692529116840
HP:0001257HP:0001285Spastic tetraparesis1CTSD CL E G H1509610127Ceroid lipofuscinosis neuronal 10610127C1864669OMIM16692529116840
HP:0001257HP:0002510Spastic tetraplegia1CTSD CL E G H1509610127Ceroid lipofuscinosis neuronal 10610127C1864669OMIM16692529116840
HP:0001257HP:0002501Spasticity of pharyngeal muscles1CTSD CL E G H1509610127Ceroid lipofuscinosis neuronal 10610127C1864669OMIM16692529116840
HP:0001257HP:0006986Upper limb spasticity1CTSD CL E G H1509610127Ceroid lipofuscinosis neuronal 10610127C1864669OMIM16692529116840
HP:0001257HP:0002491Spasticity of facial muscles1CYFIP2 CL E G H26999618008EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65618008CN248516OMIM166813760606323
HP:0001257HP:0031866Clasp-knife sign1CYFIP2 CL E G H26999618008EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65618008CN248516OMIM166813760606323
HP:0001257HP:0002061Lower limb spasticity1CYFIP2 CL E G H26999618008EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65618008CN248516OMIM166813760606323
HP:0001257HP:0002179Opisthotonus1CYFIP2 CL E G H26999618008EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65618008CN248516OMIM166813760606323
HP:0001257HP:0002191Progressive spasticity1CYFIP2 CL E G H26999618008EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65618008CN248516OMIM166813760606323
HP:0001257HP:0001264Spastic diplegia1CYFIP2 CL E G H26999618008EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65618008CN248516OMIM166813760606323
HP:0001257HP:0002464Spastic dysarthria1CYFIP2 CL E G H26999618008EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65618008CN248516OMIM166813760606323
HP:0001257HP:0002064Spastic gait1CYFIP2 CL E G H26999618008EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65618008CN248516OMIM166813760606323
HP:0001257HP:0011099Spastic hemiparesis1CYFIP2 CL E G H26999618008EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65618008CN248516OMIM166813760606323
HP:0001257HP:0001285Spastic tetraparesis1CYFIP2 CL E G H26999618008EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65618008CN248516OMIM166813760606323
HP:0001257HP:0002510Spastic tetraplegia1CYFIP2 CL E G H26999618008EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65618008CN248516OMIM166813760606323
HP:0001257HP:0002501Spasticity of pharyngeal muscles1CYFIP2 CL E G H26999618008EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65618008CN248516OMIM166813760606323
HP:0001257HP:0006986Upper limb spasticity1CYFIP2 CL E G H26999618008EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65618008CN248516OMIM166813760606323
HP:0001257HP:0002491Spasticity of facial muscles1CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0001257HP:0031866Clasp-knife sign1CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0001257HP:0002061Lower limb spasticity1CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0001257HP:0002179Opisthotonus1CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0001257HP:0002191Progressive spasticity1CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0001257HP:0001264Spastic diplegia1CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0001257HP:0002464Spastic dysarthria1CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0001257HP:0002064Spastic gait1CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0001257HP:0011099Spastic hemiparesis1CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0001257HP:0001285Spastic tetraparesis1CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0001257HP:0002510Spastic tetraplegia1CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0001257HP:0002501Spasticity of pharyngeal muscles1CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0001257HP:0006986Upper limb spasticity1CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0001257HP:0002491Spasticity of facial muscles1CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM19402605606530
HP:0001257HP:0031866Clasp-knife sign1CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM19402605606530
HP:0001257HP:0002061Lower limb spasticity1CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM19402605606530
HP:0001257HP:0002179Opisthotonus1CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM19402605606530
HP:0001257HP:0002191Progressive spasticity1CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM19402605606530
HP:0001257HP:0001264Spastic diplegia1CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM19402605606530
HP:0001257HP:0002464Spastic dysarthria1CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM19402605606530
HP:0001257HP:0002064Spastic gait1CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM19402605606530
HP:0001257HP:0011099Spastic hemiparesis1CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM19402605606530
HP:0001257HP:0001285Spastic tetraparesis1CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM19402605606530
HP:0001257HP:0002510Spastic tetraplegia1CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM19402605606530
HP:0001257HP:0002501Spasticity of pharyngeal muscles1CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM19402605606530
HP:0001257HP:0006986Upper limb spasticity1CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM19402605606530
HP:0001257HP:0002491Spasticity of facial muscles1DAO CL E G H1610803ORPHA1652671124050
HP:0001257HP:0031866Clasp-knife sign1DAO CL E G H1610803ORPHA1652671124050
HP:0001257HP:0002061Lower limb spasticity1DAO CL E G H1610803ORPHA1652671124050
HP:0001257HP:0002179Opisthotonus1DAO CL E G H1610803ORPHA1652671124050
HP:0001257HP:0002191Progressive spasticity1DAO CL E G H1610803ORPHA1652671124050
HP:0001257HP:0001264Spastic diplegia1DAO CL E G H1610803ORPHA1652671124050
HP:0001257HP:0002464Spastic dysarthria1DAO CL E G H1610803ORPHA1652671124050
HP:0001257HP:0002064Spastic gait1DAO CL E G H1610803ORPHA1652671124050
HP:0001257HP:0011099Spastic hemiparesis1DAO CL E G H1610803ORPHA1652671124050
HP:0001257HP:0001285Spastic tetraparesis1DAO CL E G H1610803ORPHA1652671124050
HP:0001257HP:0002510Spastic tetraplegia1DAO CL E G H1610803ORPHA1652671124050
HP:0001257HP:0002501Spasticity of pharyngeal muscles1DAO CL E G H1610803ORPHA1652671124050
HP:0001257HP:0006986Upper limb spasticity1DAO CL E G H1610803ORPHA1652671124050
HP:0001257HP:0002491Spasticity of facial muscles1DARS CL E G H1615615281Hypomyelination with brainstem and spinal cord involvement and leg spasticity615281C3809008OMIM12678603084
HP:0001257HP:0031866Clasp-knife sign1DARS CL E G H1615615281Hypomyelination with brainstem and spinal cord involvement and leg spasticity615281C3809008OMIM12678603084
HP:0001257HP:0002061Lower limb spasticity1DARS CL E G H1615615281Hypomyelination with brainstem and spinal cord involvement and leg spasticity615281C3809008OMIM12678603084
HP:0001257HP:0002179Opisthotonus1DARS CL E G H1615615281Hypomyelination with brainstem and spinal cord involvement and leg spasticity615281C3809008OMIM12678603084
HP:0001257HP:0002191Progressive spasticity1DARS CL E G H1615615281Hypomyelination with brainstem and spinal cord involvement and leg spasticity615281C3809008OMIM12678603084
HP:0001257HP:0001264Spastic diplegia1DARS CL E G H1615615281Hypomyelination with brainstem and spinal cord involvement and leg spasticity615281C3809008OMIM12678603084
HP:0001257HP:0002464Spastic dysarthria1DARS CL E G H1615615281Hypomyelination with brainstem and spinal cord involvement and leg spasticity615281C3809008OMIM12678603084
HP:0001257HP:0002064Spastic gait1DARS CL E G H1615615281Hypomyelination with brainstem and spinal cord involvement and leg spasticity615281C3809008OMIM12678603084
HP:0001257HP:0011099Spastic hemiparesis1DARS CL E G H1615615281Hypomyelination with brainstem and spinal cord involvement and leg spasticity615281C3809008OMIM12678603084
HP:0001257HP:0001285Spastic tetraparesis1DARS CL E G H1615615281Hypomyelination with brainstem and spinal cord involvement and leg spasticity615281C3809008OMIM12678603084
HP:0001257HP:0002510Spastic tetraplegia1DARS CL E G H1615615281Hypomyelination with brainstem and spinal cord involvement and leg spasticity615281C3809008OMIM12678603084
HP:0001257HP:0002501Spasticity of pharyngeal muscles1DARS CL E G H1615615281Hypomyelination with brainstem and spinal cord involvement and leg spasticity615281C3809008OMIM12678603084
HP:0001257HP:0006986Upper limb spasticity1DARS CL E G H1615615281Hypomyelination with brainstem and spinal cord involvement and leg spasticity615281C3809008OMIM12678603084
HP:0001257HP:0002491Spasticity of facial muscles1DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM139725538610956
HP:0001257HP:0031866Clasp-knife sign1DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM139725538610956
HP:0001257HP:0002061Lower limb spasticity1DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM139725538610956
HP:0001257HP:0002179Opisthotonus1DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM139725538610956
HP:0001257HP:0002191Progressive spasticity1DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM139725538610956
HP:0001257HP:0001264Spastic diplegia1DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM139725538610956
HP:0001257HP:0002464Spastic dysarthria1DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM139725538610956
HP:0001257HP:0002064Spastic gait1DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM139725538610956
HP:0001257HP:0011099Spastic hemiparesis1DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM139725538610956
HP:0001257HP:0001285Spastic tetraparesis1DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM139725538610956
HP:0001257HP:0002510Spastic tetraplegia1DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM139725538610956
HP:0001257HP:0002501Spasticity of pharyngeal muscles1DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM139725538610956
HP:0001257HP:0006986Upper limb spasticity1DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM139725538610956
HP:0001257HP:0002491Spasticity of facial muscles1DCTN1 CL E G H1639803ORPHA110842711601143
HP:0001257HP:0031866Clasp-knife sign1DCTN1 CL E G H1639803ORPHA110842711601143
HP:0001257HP:0002061Lower limb spasticity1DCTN1 CL E G H1639803ORPHA110842711601143
HP:0001257HP:0002179Opisthotonus1DCTN1 CL E G H1639803ORPHA110842711601143
HP:0001257HP:0002191Progressive spasticity1DCTN1 CL E G H1639803ORPHA110842711601143
HP:0001257HP:0001264Spastic diplegia1DCTN1 CL E G H1639803ORPHA110842711601143
HP:0001257HP:0002464Spastic dysarthria1DCTN1 CL E G H1639803ORPHA110842711601143
HP:0001257HP:0002064Spastic gait1DCTN1 CL E G H1639803ORPHA110842711601143
HP:0001257HP:0011099Spastic hemiparesis1DCTN1 CL E G H1639803ORPHA110842711601143
HP:0001257HP:0001285Spastic tetraparesis1DCTN1 CL E G H1639803ORPHA110842711601143
HP:0001257HP:0002510Spastic tetraplegia1DCTN1 CL E G H1639803ORPHA110842711601143
HP:0001257HP:0002501Spasticity of pharyngeal muscles1DCTN1 CL E G H1639803ORPHA110842711601143
HP:0001257HP:0006986Upper limb spasticity1DCTN1 CL E G H1639803ORPHA110842711601143
HP:0001257HP:0002491Spasticity of facial muscles1DCX CL E G H1641300067Lissencephaly, X-linked300067C1848199OMIM14232714300121
HP:0001257HP:0031866Clasp-knife sign1DCX CL E G H1641300067Lissencephaly, X-linked300067C1848199OMIM14232714300121
HP:0001257HP:0002061Lower limb spasticity1DCX CL E G H1641300067Lissencephaly, X-linked300067C1848199OMIM14232714300121
HP:0001257HP:0002179Opisthotonus1DCX CL E G H1641300067Lissencephaly, X-linked300067C1848199OMIM14232714300121
HP:0001257HP:0002191Progressive spasticity1DCX CL E G H1641300067Lissencephaly, X-linked300067C1848199OMIM14232714300121
HP:0001257HP:0001264Spastic diplegia1DCX CL E G H1641300067Lissencephaly, X-linked300067C1848199OMIM14232714300121
HP:0001257HP:0002464Spastic dysarthria1DCX CL E G H1641300067Lissencephaly, X-linked300067C1848199OMIM14232714300121
HP:0001257HP:0002064Spastic gait1DCX CL E G H1641300067Lissencephaly, X-linked300067C1848199OMIM14232714300121
HP:0001257HP:0011099Spastic hemiparesis1DCX CL E G H1641300067Lissencephaly, X-linked300067C1848199OMIM14232714300121
HP:0001257HP:0001285Spastic tetraparesis1DCX CL E G H1641300067Lissencephaly, X-linked300067C1848199OMIM14232714300121
HP:0001257HP:0002510Spastic tetraplegia1DCX CL E G H1641300067Lissencephaly, X-linked300067C1848199OMIM14232714300121
HP:0001257HP:0002501Spasticity of pharyngeal muscles1DCX CL E G H1641300067Lissencephaly, X-linked300067C1848199OMIM14232714300121
HP:0001257HP:0006986Upper limb spasticity1DCX CL E G H1641300067Lissencephaly, X-linked300067C1848199OMIM14232714300121
HP:0001257HP:0002491Spasticity of facial muscles1DDX3X CL E G H1654457260ORPHA17452745300160
HP:0001257HP:0031866Clasp-knife sign1DDX3X CL E G H1654457260ORPHA17452745300160
HP:0001257HP:0002061Lower limb spasticity1DDX3X CL E G H1654457260ORPHA17452745300160
HP:0001257HP:0002179Opisthotonus1DDX3X CL E G H1654457260ORPHA17452745300160
HP:0001257HP:0002191Progressive spasticity1DDX3X CL E G H1654457260ORPHA17452745300160
HP:0001257HP:0001264Spastic diplegia1DDX3X CL E G H1654457260ORPHA17452745300160
HP:0001257HP:0002464Spastic dysarthria1DDX3X CL E G H1654457260ORPHA17452745300160
HP:0001257HP:0002064Spastic gait1DDX3X CL E G H1654457260ORPHA17452745300160
HP:0001257HP:0011099Spastic hemiparesis1DDX3X CL E G H1654457260ORPHA17452745300160
HP:0001257HP:0001285Spastic tetraparesis1DDX3X CL E G H1654457260ORPHA17452745300160
HP:0001257HP:0002510Spastic tetraplegia1DDX3X CL E G H1654457260ORPHA17452745300160
HP:0001257HP:0002501Spasticity of pharyngeal muscles1DDX3X CL E G H1654457260ORPHA17452745300160
HP:0001257HP:0006986Upper limb spasticity1DDX3X CL E G H1654457260ORPHA17452745300160
HP:0001257HP:0002491Spasticity of facial muscles1DENND5A CL E G H23258617281Epileptic encephalopathy, early infantile, 49617281C4310635OMIM146319344617278
HP:0001257HP:0031866Clasp-knife sign1DENND5A CL E G H23258617281Epileptic encephalopathy, early infantile, 49617281C4310635OMIM146319344617278
HP:0001257HP:0002061Lower limb spasticity1DENND5A CL E G H23258617281Epileptic encephalopathy, early infantile, 49617281C4310635OMIM146319344617278
HP:0001257HP:0002179Opisthotonus1DENND5A CL E G H23258617281Epileptic encephalopathy, early infantile, 49617281C4310635OMIM146319344617278
HP:0001257HP:0002191Progressive spasticity1DENND5A CL E G H23258617281Epileptic encephalopathy, early infantile, 49617281C4310635OMIM146319344617278
HP:0001257HP:0001264Spastic diplegia1DENND5A CL E G H23258617281Epileptic encephalopathy, early infantile, 49617281C4310635OMIM146319344617278
HP:0001257HP:0002464Spastic dysarthria1DENND5A CL E G H23258617281Epileptic encephalopathy, early infantile, 49617281C4310635OMIM146319344617278
HP:0001257HP:0002064Spastic gait1DENND5A CL E G H23258617281Epileptic encephalopathy, early infantile, 49617281C4310635OMIM146319344617278
HP:0001257HP:0011099Spastic hemiparesis1DENND5A CL E G H23258617281Epileptic encephalopathy, early infantile, 49617281C4310635OMIM146319344617278
HP:0001257HP:0001285Spastic tetraparesis1DENND5A CL E G H23258617281Epileptic encephalopathy, early infantile, 49617281C4310635OMIM146319344617278
HP:0001257HP:0002510Spastic tetraplegia1DENND5A CL E G H23258617281Epileptic encephalopathy, early infantile, 49617281C4310635OMIM146319344617278
HP:0001257HP:0002501Spasticity of pharyngeal muscles1DENND5A CL E G H23258617281Epileptic encephalopathy, early infantile, 49617281C4310635OMIM146319344617278
HP:0001257HP:0006986Upper limb spasticity1DENND5A CL E G H23258617281Epileptic encephalopathy, early infantile, 49617281C4310635OMIM146319344617278
HP:0001257HP:0002491Spasticity of facial muscles1DHCR24 CL E G H171835107ORPHA12912859606418
HP:0001257HP:0031866Clasp-knife sign1DHCR24 CL E G H171835107ORPHA12912859606418
HP:0001257HP:0002061Lower limb spasticity1DHCR24 CL E G H171835107ORPHA12912859606418
HP:0001257HP:0002179Opisthotonus1DHCR24 CL E G H171835107ORPHA12912859606418
HP:0001257HP:0002191Progressive spasticity1DHCR24 CL E G H171835107ORPHA12912859606418
HP:0001257HP:0001264Spastic diplegia1DHCR24 CL E G H171835107ORPHA12912859606418
HP:0001257HP:0002464Spastic dysarthria1DHCR24 CL E G H171835107ORPHA12912859606418
HP:0001257HP:0002064Spastic gait1DHCR24 CL E G H171835107ORPHA12912859606418
HP:0001257HP:0011099Spastic hemiparesis1DHCR24 CL E G H171835107ORPHA12912859606418
HP:0001257HP:0001285Spastic tetraparesis1DHCR24 CL E G H171835107ORPHA12912859606418
HP:0001257HP:0002510Spastic tetraplegia1DHCR24 CL E G H171835107ORPHA12912859606418
HP:0001257HP:0002501Spasticity of pharyngeal muscles1DHCR24 CL E G H171835107ORPHA12912859606418
HP:0001257HP:0006986Upper limb spasticity1DHCR24 CL E G H171835107ORPHA12912859606418
HP:0001257HP:0002491Spasticity of facial muscles1DHCR24 CL E G H1718602398Desmosterolosis602398C1865596OMIM12912859606418
HP:0001257HP:0031866Clasp-knife sign1DHCR24 CL E G H1718602398Desmosterolosis602398C1865596OMIM12912859606418
HP:0001257HP:0002061Lower limb spasticity1DHCR24 CL E G H1718602398Desmosterolosis602398C1865596OMIM12912859606418
HP:0001257HP:0002179Opisthotonus1DHCR24 CL E G H1718602398Desmosterolosis602398C1865596OMIM12912859606418
HP:0001257HP:0002191Progressive spasticity1DHCR24 CL E G H1718602398Desmosterolosis602398C1865596OMIM12912859606418
HP:0001257HP:0001264Spastic diplegia1DHCR24 CL E G H1718602398Desmosterolosis602398C1865596OMIM12912859606418
HP:0001257HP:0002464Spastic dysarthria1DHCR24 CL E G H1718602398Desmosterolosis602398C1865596OMIM12912859606418
HP:0001257HP:0002064Spastic gait1DHCR24 CL E G H1718602398Desmosterolosis602398C1865596OMIM12912859606418
HP:0001257HP:0011099Spastic hemiparesis1DHCR24 CL E G H1718602398Desmosterolosis602398C1865596OMIM12912859606418
HP:0001257HP:0001285Spastic tetraparesis1DHCR24 CL E G H1718602398Desmosterolosis602398C1865596OMIM12912859606418
HP:0001257HP:0002510Spastic tetraplegia1DHCR24 CL E G H1718602398Desmosterolosis602398C1865596OMIM12912859606418
HP:0001257HP:0002501Spasticity of pharyngeal muscles1DHCR24 CL E G H1718602398Desmosterolosis602398C1865596OMIM12912859606418
HP:0001257HP:0006986Upper limb spasticity1DHCR24 CL E G H1718602398Desmosterolosis602398C1865596OMIM12912859606418
HP:0001257HP:0002491Spasticity of facial muscles1DHDDS CL E G H79947613861Retinitis pigmentosa 59613861C3151227OMIM143420603608172
HP:0001257HP:0031866Clasp-knife sign1DHDDS CL E G H79947613861Retinitis pigmentosa 59613861C3151227OMIM143420603608172
HP:0001257HP:0002061Lower limb spasticity1DHDDS CL E G H79947613861Retinitis pigmentosa 59613861C3151227OMIM143420603608172
HP:0001257HP:0002179Opisthotonus1DHDDS CL E G H79947613861Retinitis pigmentosa 59613861C3151227OMIM143420603608172
HP:0001257HP:0002191Progressive spasticity1DHDDS CL E G H79947613861Retinitis pigmentosa 59613861C3151227OMIM143420603608172
HP:0001257HP:0001264Spastic diplegia1DHDDS CL E G H79947613861Retinitis pigmentosa 59613861C3151227OMIM143420603608172
HP:0001257HP:0002464Spastic dysarthria1DHDDS CL E G H79947613861Retinitis pigmentosa 59613861C3151227OMIM143420603608172
HP:0001257HP:0002064Spastic gait1DHDDS CL E G H79947613861Retinitis pigmentosa 59613861C3151227OMIM143420603608172
HP:0001257HP:0011099Spastic hemiparesis1DHDDS CL E G H79947613861Retinitis pigmentosa 59613861C3151227OMIM143420603608172
HP:0001257HP:0001285Spastic tetraparesis1DHDDS CL E G H79947613861Retinitis pigmentosa 59613861C3151227OMIM143420603608172
HP:0001257HP:0002510Spastic tetraplegia1DHDDS CL E G H79947613861Retinitis pigmentosa 59613861C3151227OMIM143420603608172
HP:0001257HP:0002501Spasticity of pharyngeal muscles1DHDDS CL E G H79947613861Retinitis pigmentosa 59613861C3151227OMIM143420603608172
HP:0001257HP:0006986Upper limb spasticity1DHDDS CL E G H79947613861Retinitis pigmentosa 59613861C3151227OMIM143420603608172
HP:0001257HP:0002491Spasticity of facial muscles1DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA15202898238331
HP:0001257HP:0031866Clasp-knife sign1DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA15202898238331
HP:0001257HP:0002061Lower limb spasticity1DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA15202898238331
HP:0001257HP:0002179Opisthotonus1DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA15202898238331
HP:0001257HP:0002191Progressive spasticity1DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA15202898238331
HP:0001257HP:0001264Spastic diplegia1DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA15202898238331
HP:0001257HP:0002464Spastic dysarthria1DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA15202898238331
HP:0001257HP:0002064Spastic gait1DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA15202898238331
HP:0001257HP:0011099Spastic hemiparesis1DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA15202898238331
HP:0001257HP:0001285Spastic tetraparesis1DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA15202898238331
HP:0001257HP:0002510Spastic tetraplegia1DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA15202898238331
HP:0001257HP:0002501Spasticity of pharyngeal muscles1DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA15202898238331
HP:0001257HP:0006986Upper limb spasticity1DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA15202898238331
HP:0001257HP:0002491Spasticity of facial muscles1DNAJC6 CL E G H9829615528Parkinson disease 19a, juvenile-onset615528C3809811OMIM131015469608375
HP:0001257HP:0031866Clasp-knife sign1DNAJC6 CL E G H9829615528Parkinson disease 19a, juvenile-onset615528C3809811OMIM131015469608375
HP:0001257HP:0002061Lower limb spasticity1DNAJC6 CL E G H9829615528Parkinson disease 19a, juvenile-onset615528C3809811OMIM131015469608375
HP:0001257HP:0002179Opisthotonus1DNAJC6 CL E G H9829615528Parkinson disease 19a, juvenile-onset615528C3809811OMIM131015469608375
HP:0001257HP:0002191Progressive spasticity1DNAJC6 CL E G H9829615528Parkinson disease 19a, juvenile-onset615528C3809811OMIM131015469608375
HP:0001257HP:0001264Spastic diplegia1DNAJC6 CL E G H9829615528Parkinson disease 19a, juvenile-onset615528C3809811OMIM131015469608375
HP:0001257HP:0002464Spastic dysarthria1DNAJC6 CL E G H9829615528Parkinson disease 19a, juvenile-onset615528C3809811OMIM131015469608375
HP:0001257HP:0002064Spastic gait1DNAJC6 CL E G H9829615528Parkinson disease 19a, juvenile-onset615528C3809811OMIM131015469608375
HP:0001257HP:0011099Spastic hemiparesis1DNAJC6 CL E G H9829615528Parkinson disease 19a, juvenile-onset615528C3809811OMIM131015469608375
HP:0001257HP:0001285Spastic tetraparesis1DNAJC6 CL E G H9829615528Parkinson disease 19a, juvenile-onset615528C3809811OMIM131015469608375
HP:0001257HP:0002510Spastic tetraplegia1DNAJC6 CL E G H9829615528Parkinson disease 19a, juvenile-onset615528C3809811OMIM131015469608375
HP:0001257HP:0002501Spasticity of pharyngeal muscles1DNAJC6 CL E G H9829615528Parkinson disease 19a, juvenile-onset615528C3809811OMIM131015469608375
HP:0001257HP:0006986Upper limb spasticity1DNAJC6 CL E G H9829615528Parkinson disease 19a, juvenile-onset615528C3809811OMIM131015469608375
HP:0001257HP:0002491Spasticity of facial muscles1DNMT1 CL E G H1786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant604121C1858804OMIM111962976126375
HP:0001257HP:0031866Clasp-knife sign1DNMT1 CL E G H1786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant604121C1858804OMIM111962976126375
HP:0001257HP:0002061Lower limb spasticity1DNMT1 CL E G H1786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant604121C1858804OMIM111962976126375
HP:0001257HP:0002179Opisthotonus1DNMT1 CL E G H1786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant604121C1858804OMIM111962976126375
HP:0001257HP:0002191Progressive spasticity1DNMT1 CL E G H1786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant604121C1858804OMIM111962976126375
HP:0001257HP:0001264Spastic diplegia1DNMT1 CL E G H1786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant604121C1858804OMIM111962976126375
HP:0001257HP:0002464Spastic dysarthria1DNMT1 CL E G H1786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant604121C1858804OMIM111962976126375
HP:0001257HP:0002064Spastic gait1DNMT1 CL E G H1786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant604121C1858804OMIM111962976126375
HP:0001257HP:0011099Spastic hemiparesis1DNMT1 CL E G H1786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant604121C1858804OMIM111962976126375
HP:0001257HP:0001285Spastic tetraparesis1DNMT1 CL E G H1786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant604121C1858804OMIM111962976126375
HP:0001257HP:0002510Spastic tetraplegia1DNMT1 CL E G H1786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant604121C1858804OMIM111962976126375
HP:0001257HP:0002501Spasticity of pharyngeal muscles1DNMT1 CL E G H1786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant604121C1858804OMIM111962976126375
HP:0001257HP:0006986Upper limb spasticity1DNMT1 CL E G H1786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant604121C1858804OMIM111962976126375
HP:0001257HP:0002491Spasticity of facial muscles1ECHS1 CL E G H1892616277Mitochondrial short-chain enoyl-coa hydratase 1 deficiency616277C4225391OMIM14313151602292
HP:0001257HP:0031866Clasp-knife sign1ECHS1 CL E G H1892616277Mitochondrial short-chain enoyl-coa hydratase 1 deficiency616277C4225391OMIM14313151602292
HP:0001257HP:0002061Lower limb spasticity1ECHS1 CL E G H1892616277Mitochondrial short-chain enoyl-coa hydratase 1 deficiency616277C4225391OMIM14313151602292
HP:0001257HP:0002179Opisthotonus1ECHS1 CL E G H1892616277Mitochondrial short-chain enoyl-coa hydratase 1 deficiency616277C4225391OMIM14313151602292
HP:0001257HP:0002191Progressive spasticity1ECHS1 CL E G H1892616277Mitochondrial short-chain enoyl-coa hydratase 1 deficiency616277C4225391OMIM14313151602292
HP:0001257HP:0001264Spastic diplegia1ECHS1 CL E G H1892616277Mitochondrial short-chain enoyl-coa hydratase 1 deficiency616277C4225391OMIM14313151602292
HP:0001257HP:0002464Spastic dysarthria1ECHS1 CL E G H1892616277Mitochondrial short-chain enoyl-coa hydratase 1 deficiency616277C4225391OMIM14313151602292
HP:0001257HP:0002064Spastic gait1ECHS1 CL E G H1892616277Mitochondrial short-chain enoyl-coa hydratase 1 deficiency616277C4225391OMIM14313151602292
HP:0001257HP:0011099Spastic hemiparesis1ECHS1 CL E G H1892616277Mitochondrial short-chain enoyl-coa hydratase 1 deficiency616277C4225391OMIM14313151602292
HP:0001257HP:0001285Spastic tetraparesis1ECHS1 CL E G H1892616277Mitochondrial short-chain enoyl-coa hydratase 1 deficiency616277C4225391OMIM14313151602292
HP:0001257HP:0002510Spastic tetraplegia1ECHS1 CL E G H1892616277Mitochondrial short-chain enoyl-coa hydratase 1 deficiency616277C4225391OMIM14313151602292
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ECHS1 CL E G H1892616277Mitochondrial short-chain enoyl-coa hydratase 1 deficiency616277C4225391OMIM14313151602292
HP:0001257HP:0006986Upper limb spasticity1ECHS1 CL E G H1892616277Mitochondrial short-chain enoyl-coa hydratase 1 deficiency616277C4225391OMIM14313151602292
HP:0001257HP:0002491Spasticity of facial muscles1EED CL E G H87263447ORPHA11293188605984
HP:0001257HP:0031866Clasp-knife sign1EED CL E G H87263447ORPHA11293188605984
HP:0001257HP:0002061Lower limb spasticity1EED CL E G H87263447ORPHA11293188605984
HP:0001257HP:0002179Opisthotonus1EED CL E G H87263447ORPHA11293188605984
HP:0001257HP:0002191Progressive spasticity1EED CL E G H87263447ORPHA11293188605984
HP:0001257HP:0001264Spastic diplegia1EED CL E G H87263447ORPHA11293188605984
HP:0001257HP:0002464Spastic dysarthria1EED CL E G H87263447ORPHA11293188605984
HP:0001257HP:0002064Spastic gait1EED CL E G H87263447ORPHA11293188605984
HP:0001257HP:0011099Spastic hemiparesis1EED CL E G H87263447ORPHA11293188605984
HP:0001257HP:0001285Spastic tetraparesis1EED CL E G H87263447ORPHA11293188605984
HP:0001257HP:0002510Spastic tetraplegia1EED CL E G H87263447ORPHA11293188605984
HP:0001257HP:0002501Spasticity of pharyngeal muscles1EED CL E G H87263447ORPHA11293188605984
HP:0001257HP:0006986Upper limb spasticity1EED CL E G H87263447ORPHA11293188605984
HP:0001257HP:0002491Spasticity of facial muscles1EIF2B1 CL E G H1967603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11923257606686
HP:0001257HP:0031866Clasp-knife sign1EIF2B1 CL E G H1967603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11923257606686
HP:0001257HP:0002061Lower limb spasticity1EIF2B1 CL E G H1967603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11923257606686
HP:0001257HP:0002179Opisthotonus1EIF2B1 CL E G H1967603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11923257606686
HP:0001257HP:0002191Progressive spasticity1EIF2B1 CL E G H1967603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11923257606686
HP:0001257HP:0001264Spastic diplegia1EIF2B1 CL E G H1967603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11923257606686
HP:0001257HP:0002464Spastic dysarthria1EIF2B1 CL E G H1967603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11923257606686
HP:0001257HP:0002064Spastic gait1EIF2B1 CL E G H1967603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11923257606686
HP:0001257HP:0011099Spastic hemiparesis1EIF2B1 CL E G H1967603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11923257606686
HP:0001257HP:0001285Spastic tetraparesis1EIF2B1 CL E G H1967603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11923257606686
HP:0001257HP:0002510Spastic tetraplegia1EIF2B1 CL E G H1967603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11923257606686
HP:0001257HP:0002501Spasticity of pharyngeal muscles1EIF2B1 CL E G H1967603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11923257606686
HP:0001257HP:0006986Upper limb spasticity1EIF2B1 CL E G H1967603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11923257606686
HP:0001257HP:0002491Spasticity of facial muscles1EIF2B2 CL E G H8892603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11903258606454
HP:0001257HP:0031866Clasp-knife sign1EIF2B2 CL E G H8892603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11903258606454
HP:0001257HP:0002061Lower limb spasticity1EIF2B2 CL E G H8892603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11903258606454
HP:0001257HP:0002179Opisthotonus1EIF2B2 CL E G H8892603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11903258606454
HP:0001257HP:0002191Progressive spasticity1EIF2B2 CL E G H8892603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11903258606454
HP:0001257HP:0001264Spastic diplegia1EIF2B2 CL E G H8892603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11903258606454
HP:0001257HP:0002464Spastic dysarthria1EIF2B2 CL E G H8892603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11903258606454
HP:0001257HP:0002064Spastic gait1EIF2B2 CL E G H8892603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11903258606454
HP:0001257HP:0011099Spastic hemiparesis1EIF2B2 CL E G H8892603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11903258606454
HP:0001257HP:0001285Spastic tetraparesis1EIF2B2 CL E G H8892603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11903258606454
HP:0001257HP:0002510Spastic tetraplegia1EIF2B2 CL E G H8892603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11903258606454
HP:0001257HP:0002501Spasticity of pharyngeal muscles1EIF2B2 CL E G H8892603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11903258606454
HP:0001257HP:0006986Upper limb spasticity1EIF2B2 CL E G H8892603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11903258606454
HP:0001257HP:0002491Spasticity of facial muscles1EIF2B3 CL E G H8891603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11813259606273
HP:0001257HP:0031866Clasp-knife sign1EIF2B3 CL E G H8891603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11813259606273
HP:0001257HP:0002061Lower limb spasticity1EIF2B3 CL E G H8891603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11813259606273
HP:0001257HP:0002179Opisthotonus1EIF2B3 CL E G H8891603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11813259606273
HP:0001257HP:0002191Progressive spasticity1EIF2B3 CL E G H8891603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11813259606273
HP:0001257HP:0001264Spastic diplegia1EIF2B3 CL E G H8891603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11813259606273
HP:0001257HP:0002464Spastic dysarthria1EIF2B3 CL E G H8891603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11813259606273
HP:0001257HP:0002064Spastic gait1EIF2B3 CL E G H8891603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11813259606273
HP:0001257HP:0011099Spastic hemiparesis1EIF2B3 CL E G H8891603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11813259606273
HP:0001257HP:0001285Spastic tetraparesis1EIF2B3 CL E G H8891603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11813259606273
HP:0001257HP:0002510Spastic tetraplegia1EIF2B3 CL E G H8891603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11813259606273
HP:0001257HP:0002501Spasticity of pharyngeal muscles1EIF2B3 CL E G H8891603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11813259606273
HP:0001257HP:0006986Upper limb spasticity1EIF2B3 CL E G H8891603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11813259606273
HP:0001257HP:0002491Spasticity of facial muscles1EIF2B4 CL E G H8890603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM12333260606687
HP:0001257HP:0031866Clasp-knife sign1EIF2B4 CL E G H8890603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM12333260606687
HP:0001257HP:0002061Lower limb spasticity1EIF2B4 CL E G H8890603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM12333260606687
HP:0001257HP:0002179Opisthotonus1EIF2B4 CL E G H8890603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM12333260606687
HP:0001257HP:0002191Progressive spasticity1EIF2B4 CL E G H8890603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM12333260606687
HP:0001257HP:0001264Spastic diplegia1EIF2B4 CL E G H8890603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM12333260606687
HP:0001257HP:0002464Spastic dysarthria1EIF2B4 CL E G H8890603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM12333260606687
HP:0001257HP:0002064Spastic gait1EIF2B4 CL E G H8890603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM12333260606687
HP:0001257HP:0011099Spastic hemiparesis1EIF2B4 CL E G H8890603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM12333260606687
HP:0001257HP:0001285Spastic tetraparesis1EIF2B4 CL E G H8890603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM12333260606687
HP:0001257HP:0002510Spastic tetraplegia1EIF2B4 CL E G H8890603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM12333260606687
HP:0001257HP:0002501Spasticity of pharyngeal muscles1EIF2B4 CL E G H8890603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM12333260606687
HP:0001257HP:0006986Upper limb spasticity1EIF2B4 CL E G H8890603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM12333260606687
HP:0001257HP:0002491Spasticity of facial muscles1EIF2B5 CL E G H8893603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM15793261603945
HP:0001257HP:0031866Clasp-knife sign1EIF2B5 CL E G H8893603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM15793261603945
HP:0001257HP:0002061Lower limb spasticity1EIF2B5 CL E G H8893603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM15793261603945
HP:0001257HP:0002179Opisthotonus1EIF2B5 CL E G H8893603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM15793261603945
HP:0001257HP:0002191Progressive spasticity1EIF2B5 CL E G H8893603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM15793261603945
HP:0001257HP:0001264Spastic diplegia1EIF2B5 CL E G H8893603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM15793261603945
HP:0001257HP:0002464Spastic dysarthria1EIF2B5 CL E G H8893603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM15793261603945
HP:0001257HP:0002064Spastic gait1EIF2B5 CL E G H8893603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM15793261603945
HP:0001257HP:0011099Spastic hemiparesis1EIF2B5 CL E G H8893603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM15793261603945
HP:0001257HP:0001285Spastic tetraparesis1EIF2B5 CL E G H8893603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM15793261603945
HP:0001257HP:0002510Spastic tetraplegia1EIF2B5 CL E G H8893603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM15793261603945
HP:0001257HP:0002501Spasticity of pharyngeal muscles1EIF2B5 CL E G H8893603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM15793261603945
HP:0001257HP:0006986Upper limb spasticity1EIF2B5 CL E G H8893603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM15793261603945
HP:0001257HP:0002491Spasticity of facial muscles1ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0001257HP:0031866Clasp-knife sign1ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0001257HP:0002061Lower limb spasticity1ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0001257HP:0002179Opisthotonus1ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0001257HP:0002191Progressive spasticity1ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0001257HP:0001264Spastic diplegia1ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0001257HP:0002464Spastic dysarthria1ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0001257HP:0002064Spastic gait1ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0001257HP:0011099Spastic hemiparesis1ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0001257HP:0001285Spastic tetraparesis1ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0001257HP:0002510Spastic tetraplegia1ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0001257HP:0006986Upper limb spasticity1ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0001257HP:0002491Spasticity of facial muscles1EML1 CL E G H2009600348Band heterotopia600348C1838239OMIM11703330602033
HP:0001257HP:0031866Clasp-knife sign1EML1 CL E G H2009600348Band heterotopia600348C1838239OMIM11703330602033
HP:0001257HP:0002061Lower limb spasticity1EML1 CL E G H2009600348Band heterotopia600348C1838239OMIM11703330602033
HP:0001257HP:0002179Opisthotonus1EML1 CL E G H2009600348Band heterotopia600348C1838239OMIM11703330602033
HP:0001257HP:0002191Progressive spasticity1EML1 CL E G H2009600348Band heterotopia600348C1838239OMIM11703330602033
HP:0001257HP:0001264Spastic diplegia1EML1 CL E G H2009600348Band heterotopia600348C1838239OMIM11703330602033
HP:0001257HP:0002464Spastic dysarthria1EML1 CL E G H2009600348Band heterotopia600348C1838239OMIM11703330602033
HP:0001257HP:0002064Spastic gait1EML1 CL E G H2009600348Band heterotopia600348C1838239OMIM11703330602033
HP:0001257HP:0011099Spastic hemiparesis1EML1 CL E G H2009600348Band heterotopia600348C1838239OMIM11703330602033
HP:0001257HP:0001285Spastic tetraparesis1EML1 CL E G H2009600348Band heterotopia600348C1838239OMIM11703330602033
HP:0001257HP:0002510Spastic tetraplegia1EML1 CL E G H2009600348Band heterotopia600348C1838239OMIM11703330602033
HP:0001257HP:0002501Spasticity of pharyngeal muscles1EML1 CL E G H2009600348Band heterotopia600348C1838239OMIM11703330602033
HP:0001257HP:0006986Upper limb spasticity1EML1 CL E G H2009600348Band heterotopia600348C1838239OMIM11703330602033
HP:0001257HP:0002491Spasticity of facial muscles1ENTPD1 CL E G H953401810ORPHA11993363601752
HP:0001257HP:0031866Clasp-knife sign1ENTPD1 CL E G H953401810ORPHA11993363601752
HP:0001257HP:0002061Lower limb spasticity1ENTPD1 CL E G H953401810ORPHA11993363601752
HP:0001257HP:0002179Opisthotonus1ENTPD1 CL E G H953401810ORPHA11993363601752
HP:0001257HP:0002191Progressive spasticity1ENTPD1 CL E G H953401810ORPHA11993363601752
HP:0001257HP:0001264Spastic diplegia1ENTPD1 CL E G H953401810ORPHA11993363601752
HP:0001257HP:0002464Spastic dysarthria1ENTPD1 CL E G H953401810ORPHA11993363601752
HP:0001257HP:0002064Spastic gait1ENTPD1 CL E G H953401810ORPHA11993363601752
HP:0001257HP:0011099Spastic hemiparesis1ENTPD1 CL E G H953401810ORPHA11993363601752
HP:0001257HP:0001285Spastic tetraparesis1ENTPD1 CL E G H953401810ORPHA11993363601752
HP:0001257HP:0002510Spastic tetraplegia1ENTPD1 CL E G H953401810ORPHA11993363601752
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ENTPD1 CL E G H953401810ORPHA11993363601752
HP:0001257HP:0006986Upper limb spasticity1ENTPD1 CL E G H953401810ORPHA11993363601752
HP:0001257HP:0002491Spasticity of facial muscles1EPHA4 CL E G H2043803ORPHA11933388602188
HP:0001257HP:0031866Clasp-knife sign1EPHA4 CL E G H2043803ORPHA11933388602188
HP:0001257HP:0002061Lower limb spasticity1EPHA4 CL E G H2043803ORPHA11933388602188
HP:0001257HP:0002179Opisthotonus1EPHA4 CL E G H2043803ORPHA11933388602188
HP:0001257HP:0002191Progressive spasticity1EPHA4 CL E G H2043803ORPHA11933388602188
HP:0001257HP:0001264Spastic diplegia1EPHA4 CL E G H2043803ORPHA11933388602188
HP:0001257HP:0002464Spastic dysarthria1EPHA4 CL E G H2043803ORPHA11933388602188
HP:0001257HP:0002064Spastic gait1EPHA4 CL E G H2043803ORPHA11933388602188
HP:0001257HP:0011099Spastic hemiparesis1EPHA4 CL E G H2043803ORPHA11933388602188
HP:0001257HP:0001285Spastic tetraparesis1EPHA4 CL E G H2043803ORPHA11933388602188
HP:0001257HP:0002510Spastic tetraplegia1EPHA4 CL E G H2043803ORPHA11933388602188
HP:0001257HP:0002501Spasticity of pharyngeal muscles1EPHA4 CL E G H2043803ORPHA11933388602188
HP:0001257HP:0006986Upper limb spasticity1EPHA4 CL E G H2043803ORPHA11933388602188
HP:0001257HP:0002491Spasticity of facial muscles1EPRS CL E G H2058617951LEUKODYSTROPHY, HYPOMYELINATING, 15617951CN244566OMIM13418138295
HP:0001257HP:0031866Clasp-knife sign1EPRS CL E G H2058617951LEUKODYSTROPHY, HYPOMYELINATING, 15617951CN244566OMIM13418138295
HP:0001257HP:0002061Lower limb spasticity1EPRS CL E G H2058617951LEUKODYSTROPHY, HYPOMYELINATING, 15617951CN244566OMIM13418138295
HP:0001257HP:0002179Opisthotonus1EPRS CL E G H2058617951LEUKODYSTROPHY, HYPOMYELINATING, 15617951CN244566OMIM13418138295
HP:0001257HP:0002191Progressive spasticity1EPRS CL E G H2058617951LEUKODYSTROPHY, HYPOMYELINATING, 15617951CN244566OMIM13418138295
HP:0001257HP:0001264Spastic diplegia1EPRS CL E G H2058617951LEUKODYSTROPHY, HYPOMYELINATING, 15617951CN244566OMIM13418138295
HP:0001257HP:0002464Spastic dysarthria1EPRS CL E G H2058617951LEUKODYSTROPHY, HYPOMYELINATING, 15617951CN244566OMIM13418138295
HP:0001257HP:0002064Spastic gait1EPRS CL E G H2058617951LEUKODYSTROPHY, HYPOMYELINATING, 15617951CN244566OMIM13418138295
HP:0001257HP:0011099Spastic hemiparesis1EPRS CL E G H2058617951LEUKODYSTROPHY, HYPOMYELINATING, 15617951CN244566OMIM13418138295
HP:0001257HP:0001285Spastic tetraparesis1EPRS CL E G H2058617951LEUKODYSTROPHY, HYPOMYELINATING, 15617951CN244566OMIM13418138295
HP:0001257HP:0002510Spastic tetraplegia1EPRS CL E G H2058617951LEUKODYSTROPHY, HYPOMYELINATING, 15617951CN244566OMIM13418138295
HP:0001257HP:0002501Spasticity of pharyngeal muscles1EPRS CL E G H2058617951LEUKODYSTROPHY, HYPOMYELINATING, 15617951CN244566OMIM13418138295
HP:0001257HP:0006986Upper limb spasticity1EPRS CL E G H2058617951LEUKODYSTROPHY, HYPOMYELINATING, 15617951CN244566OMIM13418138295
HP:0001257HP:0002491Spasticity of facial muscles1ERBB4 CL E G H2066803ORPHA14623432600543
HP:0001257HP:0031866Clasp-knife sign1ERBB4 CL E G H2066803ORPHA14623432600543
HP:0001257HP:0002061Lower limb spasticity1ERBB4 CL E G H2066803ORPHA14623432600543
HP:0001257HP:0002179Opisthotonus1ERBB4 CL E G H2066803ORPHA14623432600543
HP:0001257HP:0002191Progressive spasticity1ERBB4 CL E G H2066803ORPHA14623432600543
HP:0001257HP:0001264Spastic diplegia1ERBB4 CL E G H2066803ORPHA14623432600543
HP:0001257HP:0002464Spastic dysarthria1ERBB4 CL E G H2066803ORPHA14623432600543
HP:0001257HP:0002064Spastic gait1ERBB4 CL E G H2066803ORPHA14623432600543
HP:0001257HP:0011099Spastic hemiparesis1ERBB4 CL E G H2066803ORPHA14623432600543
HP:0001257HP:0001285Spastic tetraparesis1ERBB4 CL E G H2066803ORPHA14623432600543
HP:0001257HP:0002510Spastic tetraplegia1ERBB4 CL E G H2066803ORPHA14623432600543
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ERBB4 CL E G H2066803ORPHA14623432600543
HP:0001257HP:0006986Upper limb spasticity1ERBB4 CL E G H2066803ORPHA14623432600543
HP:0001257HP:0002491Spasticity of facial muscles1ERCC2 CL E G H2068220295ORPHA115723434126340
HP:0001257HP:0031866Clasp-knife sign1ERCC2 CL E G H2068220295ORPHA115723434126340
HP:0001257HP:0002061Lower limb spasticity1ERCC2 CL E G H2068220295ORPHA115723434126340
HP:0001257HP:0002179Opisthotonus1ERCC2 CL E G H2068220295ORPHA115723434126340
HP:0001257HP:0002191Progressive spasticity1ERCC2 CL E G H2068220295ORPHA115723434126340
HP:0001257HP:0001264Spastic diplegia1ERCC2 CL E G H2068220295ORPHA115723434126340
HP:0001257HP:0002464Spastic dysarthria1ERCC2 CL E G H2068220295ORPHA115723434126340
HP:0001257HP:0002064Spastic gait1ERCC2 CL E G H2068220295ORPHA115723434126340
HP:0001257HP:0011099Spastic hemiparesis1ERCC2 CL E G H2068220295ORPHA115723434126340
HP:0001257HP:0001285Spastic tetraparesis1ERCC2 CL E G H2068220295ORPHA115723434126340
HP:0001257HP:0002510Spastic tetraplegia1ERCC2 CL E G H2068220295ORPHA115723434126340
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ERCC2 CL E G H2068220295ORPHA115723434126340
HP:0001257HP:0006986Upper limb spasticity1ERCC2 CL E G H2068220295ORPHA115723434126340
HP:0001257HP:0002491Spasticity of facial muscles1ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM115723434126340
HP:0001257HP:0031866Clasp-knife sign1ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM115723434126340
HP:0001257HP:0002061Lower limb spasticity1ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM115723434126340
HP:0001257HP:0002179Opisthotonus1ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM115723434126340
HP:0001257HP:0002191Progressive spasticity1ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM115723434126340
HP:0001257HP:0001264Spastic diplegia1ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM115723434126340
HP:0001257HP:0002464Spastic dysarthria1ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM115723434126340
HP:0001257HP:0002064Spastic gait1ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM115723434126340
HP:0001257HP:0011099Spastic hemiparesis1ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM115723434126340
HP:0001257HP:0001285Spastic tetraparesis1ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM115723434126340
HP:0001257HP:0002510Spastic tetraplegia1ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM115723434126340
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM115723434126340
HP:0001257HP:0006986Upper limb spasticity1ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM115723434126340
HP:0001257HP:0002491Spasticity of facial muscles1ERCC3 CL E G H2071220295ORPHA15233435133510
HP:0001257HP:0031866Clasp-knife sign1ERCC3 CL E G H2071220295ORPHA15233435133510
HP:0001257HP:0002061Lower limb spasticity1ERCC3 CL E G H2071220295ORPHA15233435133510
HP:0001257HP:0002179Opisthotonus1ERCC3 CL E G H2071220295ORPHA15233435133510
HP:0001257HP:0002191Progressive spasticity1ERCC3 CL E G H2071220295ORPHA15233435133510
HP:0001257HP:0001264Spastic diplegia1ERCC3 CL E G H2071220295ORPHA15233435133510
HP:0001257HP:0002464Spastic dysarthria1ERCC3 CL E G H2071220295ORPHA15233435133510
HP:0001257HP:0002064Spastic gait1ERCC3 CL E G H2071220295ORPHA15233435133510
HP:0001257HP:0011099Spastic hemiparesis1ERCC3 CL E G H2071220295ORPHA15233435133510
HP:0001257HP:0001285Spastic tetraparesis1ERCC3 CL E G H2071220295ORPHA15233435133510
HP:0001257HP:0002510Spastic tetraplegia1ERCC3 CL E G H2071220295ORPHA15233435133510
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ERCC3 CL E G H2071220295ORPHA15233435133510
HP:0001257HP:0006986Upper limb spasticity1ERCC3 CL E G H2071220295ORPHA15233435133510
HP:0001257HP:0002491Spasticity of facial muscles1ERCC4 CL E G H2072220295ORPHA17263436133520
HP:0001257HP:0031866Clasp-knife sign1ERCC4 CL E G H2072220295ORPHA17263436133520
HP:0001257HP:0002061Lower limb spasticity1ERCC4 CL E G H2072220295ORPHA17263436133520
HP:0001257HP:0002179Opisthotonus1ERCC4 CL E G H2072220295ORPHA17263436133520
HP:0001257HP:0002191Progressive spasticity1ERCC4 CL E G H2072220295ORPHA17263436133520
HP:0001257HP:0001264Spastic diplegia1ERCC4 CL E G H2072220295ORPHA17263436133520
HP:0001257HP:0002464Spastic dysarthria1ERCC4 CL E G H2072220295ORPHA17263436133520
HP:0001257HP:0002064Spastic gait1ERCC4 CL E G H2072220295ORPHA17263436133520
HP:0001257HP:0011099Spastic hemiparesis1ERCC4 CL E G H2072220295ORPHA17263436133520
HP:0001257HP:0001285Spastic tetraparesis1ERCC4 CL E G H2072220295ORPHA17263436133520
HP:0001257HP:0002510Spastic tetraplegia1ERCC4 CL E G H2072220295ORPHA17263436133520
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ERCC4 CL E G H2072220295ORPHA17263436133520
HP:0001257HP:0006986Upper limb spasticity1ERCC4 CL E G H2072220295ORPHA17263436133520
HP:0001257HP:0002491Spasticity of facial muscles1ERCC5 CL E G H2073220295ORPHA14913437133530
HP:0001257HP:0031866Clasp-knife sign1ERCC5 CL E G H2073220295ORPHA14913437133530
HP:0001257HP:0002061Lower limb spasticity1ERCC5 CL E G H2073220295ORPHA14913437133530
HP:0001257HP:0002179Opisthotonus1ERCC5 CL E G H2073220295ORPHA14913437133530
HP:0001257HP:0002191Progressive spasticity1ERCC5 CL E G H2073220295ORPHA14913437133530
HP:0001257HP:0001264Spastic diplegia1ERCC5 CL E G H2073220295ORPHA14913437133530
HP:0001257HP:0002464Spastic dysarthria1ERCC5 CL E G H2073220295ORPHA14913437133530
HP:0001257HP:0002064Spastic gait1ERCC5 CL E G H2073220295ORPHA14913437133530
HP:0001257HP:0011099Spastic hemiparesis1ERCC5 CL E G H2073220295ORPHA14913437133530
HP:0001257HP:0001285Spastic tetraparesis1ERCC5 CL E G H2073220295ORPHA14913437133530
HP:0001257HP:0002510Spastic tetraplegia1ERCC5 CL E G H2073220295ORPHA14913437133530
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ERCC5 CL E G H2073220295ORPHA14913437133530
HP:0001257HP:0006986Upper limb spasticity1ERCC5 CL E G H2073220295ORPHA14913437133530
HP:0001257HP:0002491Spasticity of facial muscles1ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM116453438609413
HP:0001257HP:0031866Clasp-knife sign1ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM116453438609413
HP:0001257HP:0002061Lower limb spasticity1ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM116453438609413
HP:0001257HP:0002179Opisthotonus1ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM116453438609413
HP:0001257HP:0002191Progressive spasticity1ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM116453438609413
HP:0001257HP:0001264Spastic diplegia1ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM116453438609413
HP:0001257HP:0002464Spastic dysarthria1ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM116453438609413
HP:0001257HP:0002064Spastic gait1ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM116453438609413
HP:0001257HP:0011099Spastic hemiparesis1ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM116453438609413
HP:0001257HP:0001285Spastic tetraparesis1ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM116453438609413
HP:0001257HP:0002510Spastic tetraplegia1ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM116453438609413
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM116453438609413
HP:0001257HP:0006986Upper limb spasticity1ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM116453438609413
HP:0001257HP:0002491Spasticity of facial muscles1ERLIN2 CL E G H11160209951ORPHA11911356611605
HP:0001257HP:0031866Clasp-knife sign1ERLIN2 CL E G H11160209951ORPHA11911356611605
HP:0001257HP:0002061Lower limb spasticity1ERLIN2 CL E G H11160209951ORPHA11911356611605
HP:0001257HP:0002179Opisthotonus1ERLIN2 CL E G H11160209951ORPHA11911356611605
HP:0001257HP:0002191Progressive spasticity1ERLIN2 CL E G H11160209951ORPHA11911356611605
HP:0001257HP:0001264Spastic diplegia1ERLIN2 CL E G H11160209951ORPHA11911356611605
HP:0001257HP:0002464Spastic dysarthria1ERLIN2 CL E G H11160209951ORPHA11911356611605
HP:0001257HP:0002064Spastic gait1ERLIN2 CL E G H11160209951ORPHA11911356611605
HP:0001257HP:0011099Spastic hemiparesis1ERLIN2 CL E G H11160209951ORPHA11911356611605
HP:0001257HP:0001285Spastic tetraparesis1ERLIN2 CL E G H11160209951ORPHA11911356611605
HP:0001257HP:0002510Spastic tetraplegia1ERLIN2 CL E G H11160209951ORPHA11911356611605
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ERLIN2 CL E G H11160209951ORPHA11911356611605
HP:0001257HP:0006986Upper limb spasticity1ERLIN2 CL E G H11160209951ORPHA11911356611605
HP:0001257HP:0002491Spasticity of facial muscles1EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM122717944606489
HP:0001257HP:0031866Clasp-knife sign1EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM122717944606489
HP:0001257HP:0002061Lower limb spasticity1EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM122717944606489
HP:0001257HP:0002179Opisthotonus1EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM122717944606489
HP:0001257HP:0002191Progressive spasticity1EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM122717944606489
HP:0001257HP:0001264Spastic diplegia1EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM122717944606489
HP:0001257HP:0002464Spastic dysarthria1EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM122717944606489
HP:0001257HP:0002064Spastic gait1EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM122717944606489
HP:0001257HP:0011099Spastic hemiparesis1EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM122717944606489
HP:0001257HP:0001285Spastic tetraparesis1EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM122717944606489
HP:0001257HP:0002510Spastic tetraplegia1EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM122717944606489
HP:0001257HP:0002501Spasticity of pharyngeal muscles1EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM122717944606489
HP:0001257HP:0006986Upper limb spasticity1EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM122717944606489
HP:0001257HP:0002491Spasticity of facial muscles1EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM12609137606180
HP:0001257HP:0031866Clasp-knife sign1EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM12609137606180
HP:0001257HP:0002061Lower limb spasticity1EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM12609137606180
HP:0001257HP:0002179Opisthotonus1EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM12609137606180
HP:0001257HP:0002191Progressive spasticity1EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM12609137606180
HP:0001257HP:0001264Spastic diplegia1EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM12609137606180
HP:0001257HP:0002464Spastic dysarthria1EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM12609137606180
HP:0001257HP:0002064Spastic gait1EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM12609137606180
HP:0001257HP:0011099Spastic hemiparesis1EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM12609137606180
HP:0001257HP:0001285Spastic tetraparesis1EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM12609137606180
HP:0001257HP:0002510Spastic tetraplegia1EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM12609137606180
HP:0001257HP:0002501Spasticity of pharyngeal muscles1EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM12609137606180
HP:0001257HP:0006986Upper limb spasticity1EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM12609137606180
HP:0001257HP:0002491Spasticity of facial muscles1EZH2 CL E G H21463447ORPHA15383527601573
HP:0001257HP:0031866Clasp-knife sign1EZH2 CL E G H21463447ORPHA15383527601573
HP:0001257HP:0002061Lower limb spasticity1EZH2 CL E G H21463447ORPHA15383527601573
HP:0001257HP:0002179Opisthotonus1EZH2 CL E G H21463447ORPHA15383527601573
HP:0001257HP:0002191Progressive spasticity1EZH2 CL E G H21463447ORPHA15383527601573
HP:0001257HP:0001264Spastic diplegia1EZH2 CL E G H21463447ORPHA15383527601573
HP:0001257HP:0002464Spastic dysarthria1EZH2 CL E G H21463447ORPHA15383527601573
HP:0001257HP:0002064Spastic gait1EZH2 CL E G H21463447ORPHA15383527601573
HP:0001257HP:0011099Spastic hemiparesis1EZH2 CL E G H21463447ORPHA15383527601573
HP:0001257HP:0001285Spastic tetraparesis1EZH2 CL E G H21463447ORPHA15383527601573
HP:0001257HP:0002510Spastic tetraplegia1EZH2 CL E G H21463447ORPHA15383527601573
HP:0001257HP:0002501Spasticity of pharyngeal muscles1EZH2 CL E G H21463447ORPHA15383527601573
HP:0001257HP:0006986Upper limb spasticity1EZH2 CL E G H21463447ORPHA15383527601573
HP:0001257HP:0002491Spasticity of facial muscles1EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0001257HP:0031866Clasp-knife sign1EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0001257HP:0002061Lower limb spasticity1EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0001257HP:0002179Opisthotonus1EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0001257HP:0002191Progressive spasticity1EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0001257HP:0001264Spastic diplegia1EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0001257HP:0002464Spastic dysarthria1EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0001257HP:0002064Spastic gait1EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0001257HP:0011099Spastic hemiparesis1EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0001257HP:0001285Spastic tetraparesis1EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0001257HP:0002510Spastic tetraplegia1EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0001257HP:0002501Spasticity of pharyngeal muscles1EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0001257HP:0006986Upper limb spasticity1EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0001257HP:0002491Spasticity of facial muscles1FAR1 CL E G H84188616154Peroxisomal fatty acyl-coa reductase 1 disorder616154C4015344OMIM128226222616107
HP:0001257HP:0031866Clasp-knife sign1FAR1 CL E G H84188616154Peroxisomal fatty acyl-coa reductase 1 disorder616154C4015344OMIM128226222616107
HP:0001257HP:0002061Lower limb spasticity1FAR1 CL E G H84188616154Peroxisomal fatty acyl-coa reductase 1 disorder616154C4015344OMIM128226222616107
HP:0001257HP:0002179Opisthotonus1FAR1 CL E G H84188616154Peroxisomal fatty acyl-coa reductase 1 disorder616154C4015344OMIM128226222616107
HP:0001257HP:0002191Progressive spasticity1FAR1 CL E G H84188616154Peroxisomal fatty acyl-coa reductase 1 disorder616154C4015344OMIM128226222616107
HP:0001257HP:0001264Spastic diplegia1FAR1 CL E G H84188616154Peroxisomal fatty acyl-coa reductase 1 disorder616154C4015344OMIM128226222616107
HP:0001257HP:0002464Spastic dysarthria1FAR1 CL E G H84188616154Peroxisomal fatty acyl-coa reductase 1 disorder616154C4015344OMIM128226222616107
HP:0001257HP:0002064Spastic gait1FAR1 CL E G H84188616154Peroxisomal fatty acyl-coa reductase 1 disorder616154C4015344OMIM128226222616107
HP:0001257HP:0011099Spastic hemiparesis1FAR1 CL E G H84188616154Peroxisomal fatty acyl-coa reductase 1 disorder616154C4015344OMIM128226222616107
HP:0001257HP:0001285Spastic tetraparesis1FAR1 CL E G H84188616154Peroxisomal fatty acyl-coa reductase 1 disorder616154C4015344OMIM128226222616107
HP:0001257HP:0002510Spastic tetraplegia1FAR1 CL E G H84188616154Peroxisomal fatty acyl-coa reductase 1 disorder616154C4015344OMIM128226222616107
HP:0001257HP:0002501Spasticity of pharyngeal muscles1FAR1 CL E G H84188616154Peroxisomal fatty acyl-coa reductase 1 disorder616154C4015344OMIM128226222616107
HP:0001257HP:0006986Upper limb spasticity1FAR1 CL E G H84188616154Peroxisomal fatty acyl-coa reductase 1 disorder616154C4015344OMIM128226222616107
HP:0001257HP:0002491Spasticity of facial muscles1FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0001257HP:0031866Clasp-knife sign1FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0001257HP:0002061Lower limb spasticity1FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0001257HP:0002179Opisthotonus1FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0001257HP:0002191Progressive spasticity1FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0001257HP:0001264Spastic diplegia1FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0001257HP:0002464Spastic dysarthria1FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0001257HP:0002064Spastic gait1FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0001257HP:0011099Spastic hemiparesis1FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0001257HP:0001285Spastic tetraparesis1FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0001257HP:0002510Spastic tetraplegia1FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0001257HP:0002501Spasticity of pharyngeal muscles1FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0001257HP:0006986Upper limb spasticity1FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0001257HP:0002491Spasticity of facial muscles1FGFR1 CL E G H22602396ORPHA19363688136350
HP:0001257HP:0031866Clasp-knife sign1FGFR1 CL E G H22602396ORPHA19363688136350
HP:0001257HP:0002061Lower limb spasticity1FGFR1 CL E G H22602396ORPHA19363688136350
HP:0001257HP:0002179Opisthotonus1FGFR1 CL E G H22602396ORPHA19363688136350
HP:0001257HP:0002191Progressive spasticity1FGFR1 CL E G H22602396ORPHA19363688136350
HP:0001257HP:0001264Spastic diplegia1FGFR1 CL E G H22602396ORPHA19363688136350
HP:0001257HP:0002464Spastic dysarthria1FGFR1 CL E G H22602396ORPHA19363688136350
HP:0001257HP:0002064Spastic gait1FGFR1 CL E G H22602396ORPHA19363688136350
HP:0001257HP:0011099Spastic hemiparesis1FGFR1 CL E G H22602396ORPHA19363688136350
HP:0001257HP:0001285Spastic tetraparesis1FGFR1 CL E G H22602396ORPHA19363688136350
HP:0001257HP:0002510Spastic tetraplegia1FGFR1 CL E G H22602396ORPHA19363688136350
HP:0001257HP:0002501Spasticity of pharyngeal muscles1FGFR1 CL E G H22602396ORPHA19363688136350
HP:0001257HP:0006986Upper limb spasticity1FGFR1 CL E G H22602396ORPHA19363688136350
HP:0001257HP:0002491Spasticity of facial muscles1FIG4 CL E G H9896803ORPHA192616873609390
HP:0001257HP:0031866Clasp-knife sign1FIG4 CL E G H9896803ORPHA192616873609390
HP:0001257HP:0002061Lower limb spasticity1FIG4 CL E G H9896803ORPHA192616873609390
HP:0001257HP:0002179Opisthotonus1FIG4 CL E G H9896803ORPHA192616873609390
HP:0001257HP:0002191Progressive spasticity1FIG4 CL E G H9896803ORPHA192616873609390
HP:0001257HP:0001264Spastic diplegia1FIG4 CL E G H9896803ORPHA192616873609390
HP:0001257HP:0002464Spastic dysarthria1FIG4 CL E G H9896803ORPHA192616873609390
HP:0001257HP:0002064Spastic gait1FIG4 CL E G H9896803ORPHA192616873609390
HP:0001257HP:0011099Spastic hemiparesis1FIG4 CL E G H9896803ORPHA192616873609390
HP:0001257HP:0001285Spastic tetraparesis1FIG4 CL E G H9896803ORPHA192616873609390
HP:0001257HP:0002510Spastic tetraplegia1FIG4 CL E G H9896803ORPHA192616873609390
HP:0001257HP:0002501Spasticity of pharyngeal muscles1FIG4 CL E G H9896803ORPHA192616873609390
HP:0001257HP:0006986Upper limb spasticity1FIG4 CL E G H9896803ORPHA192616873609390
HP:0001257HP:0002491Spasticity of facial muscles1FOXG1 CL E G H22903095ORPHA17253811164874
HP:0001257HP:0031866Clasp-knife sign1FOXG1 CL E G H22903095ORPHA17253811164874
HP:0001257HP:0002061Lower limb spasticity1FOXG1 CL E G H22903095ORPHA17253811164874
HP:0001257HP:0002179Opisthotonus1FOXG1 CL E G H22903095ORPHA17253811164874
HP:0001257HP:0002191Progressive spasticity1FOXG1 CL E G H22903095ORPHA17253811164874
HP:0001257HP:0001264Spastic diplegia1FOXG1 CL E G H22903095ORPHA17253811164874
HP:0001257HP:0002464Spastic dysarthria1FOXG1 CL E G H22903095ORPHA17253811164874
HP:0001257HP:0002064Spastic gait1FOXG1 CL E G H22903095ORPHA17253811164874
HP:0001257HP:0011099Spastic hemiparesis1FOXG1 CL E G H22903095ORPHA17253811164874
HP:0001257HP:0001285Spastic tetraparesis1FOXG1 CL E G H22903095ORPHA17253811164874
HP:0001257HP:0002510Spastic tetraplegia1FOXG1 CL E G H22903095ORPHA17253811164874
HP:0001257HP:0002501Spasticity of pharyngeal muscles1FOXG1 CL E G H22903095ORPHA17253811164874
HP:0001257HP:0006986Upper limb spasticity1FOXG1 CL E G H22903095ORPHA17253811164874
HP:0001257HP:0002491Spasticity of facial muscles1FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM17253811164874
HP:0001257HP:0031866Clasp-knife sign1FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM17253811164874
HP:0001257HP:0002061Lower limb spasticity1FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM17253811164874
HP:0001257HP:0002179Opisthotonus1FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM17253811164874
HP:0001257HP:0002191Progressive spasticity1FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM17253811164874
HP:0001257HP:0001264Spastic diplegia1FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM17253811164874
HP:0001257HP:0002464Spastic dysarthria1FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM17253811164874
HP:0001257HP:0002064Spastic gait1FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM17253811164874
HP:0001257HP:0011099Spastic hemiparesis1FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM17253811164874
HP:0001257HP:0001285Spastic tetraparesis1FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM17253811164874
HP:0001257HP:0002510Spastic tetraplegia1FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM17253811164874
HP:0001257HP:0002501Spasticity of pharyngeal muscles1FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM17253811164874
HP:0001257HP:0006986Upper limb spasticity1FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM17253811164874
HP:0001257HP:0002491Spasticity of facial muscles1FRMPD4 CL E G H9758300983Mental retardation, X-linked 104300983C4310817OMIM145029007300838
HP:0001257HP:0031866Clasp-knife sign1FRMPD4 CL E G H9758300983Mental retardation, X-linked 104300983C4310817OMIM145029007300838
HP:0001257HP:0002061Lower limb spasticity1FRMPD4 CL E G H9758300983Mental retardation, X-linked 104300983C4310817OMIM145029007300838
HP:0001257HP:0002179Opisthotonus1FRMPD4 CL E G H9758300983Mental retardation, X-linked 104300983C4310817OMIM145029007300838
HP:0001257HP:0002191Progressive spasticity1FRMPD4 CL E G H9758300983Mental retardation, X-linked 104300983C4310817OMIM145029007300838
HP:0001257HP:0001264Spastic diplegia1FRMPD4 CL E G H9758300983Mental retardation, X-linked 104300983C4310817OMIM145029007300838
HP:0001257HP:0002464Spastic dysarthria1FRMPD4 CL E G H9758300983Mental retardation, X-linked 104300983C4310817OMIM145029007300838
HP:0001257HP:0002064Spastic gait1FRMPD4 CL E G H9758300983Mental retardation, X-linked 104300983C4310817OMIM145029007300838
HP:0001257HP:0011099Spastic hemiparesis1FRMPD4 CL E G H9758300983Mental retardation, X-linked 104300983C4310817OMIM145029007300838
HP:0001257HP:0001285Spastic tetraparesis1FRMPD4 CL E G H9758300983Mental retardation, X-linked 104300983C4310817OMIM145029007300838
HP:0001257HP:0002510Spastic tetraplegia1FRMPD4 CL E G H9758300983Mental retardation, X-linked 104300983C4310817OMIM145029007300838
HP:0001257HP:0002501Spasticity of pharyngeal muscles1FRMPD4 CL E G H9758300983Mental retardation, X-linked 104300983C4310817OMIM145029007300838
HP:0001257HP:0006986Upper limb spasticity1FRMPD4 CL E G H9758300983Mental retardation, X-linked 104300983C4310817OMIM145029007300838
HP:0001257HP:0002491Spasticity of facial muscles1FRRS1L CL E G H23732616981Epileptic encephalopathy, early infantile, 37616981C4310770OMIM14021362604574
HP:0001257HP:0031866Clasp-knife sign1FRRS1L CL E G H23732616981Epileptic encephalopathy, early infantile, 37616981C4310770OMIM14021362604574
HP:0001257HP:0002061Lower limb spasticity1FRRS1L CL E G H23732616981Epileptic encephalopathy, early infantile, 37616981C4310770OMIM14021362604574
HP:0001257HP:0002179Opisthotonus1FRRS1L CL E G H23732616981Epileptic encephalopathy, early infantile, 37616981C4310770OMIM14021362604574
HP:0001257HP:0002191Progressive spasticity1FRRS1L CL E G H23732616981Epileptic encephalopathy, early infantile, 37616981C4310770OMIM14021362604574
HP:0001257HP:0001264Spastic diplegia1FRRS1L CL E G H23732616981Epileptic encephalopathy, early infantile, 37616981C4310770OMIM14021362604574
HP:0001257HP:0002464Spastic dysarthria1FRRS1L CL E G H23732616981Epileptic encephalopathy, early infantile, 37616981C4310770OMIM14021362604574
HP:0001257HP:0002064Spastic gait1FRRS1L CL E G H23732616981Epileptic encephalopathy, early infantile, 37616981C4310770OMIM14021362604574
HP:0001257HP:0011099Spastic hemiparesis1FRRS1L CL E G H23732616981Epileptic encephalopathy, early infantile, 37616981C4310770OMIM14021362604574
HP:0001257HP:0001285Spastic tetraparesis1FRRS1L CL E G H23732616981Epileptic encephalopathy, early infantile, 37616981C4310770OMIM14021362604574
HP:0001257HP:0002510Spastic tetraplegia1FRRS1L CL E G H23732616981Epileptic encephalopathy, early infantile, 37616981C4310770OMIM14021362604574
HP:0001257HP:0002501Spasticity of pharyngeal muscles1FRRS1L CL E G H23732616981Epileptic encephalopathy, early infantile, 37616981C4310770OMIM14021362604574
HP:0001257HP:0006986Upper limb spasticity1FRRS1L CL E G H23732616981Epileptic encephalopathy, early infantile, 37616981C4310770OMIM14021362604574
HP:0001257HP:0002491Spasticity of facial muscles1FTL CL E G H2512606159Neuroferritinopathy606159C1853578OMIM11853999134790
HP:0001257HP:0031866Clasp-knife sign1FTL CL E G H2512606159Neuroferritinopathy606159C1853578OMIM11853999134790
HP:0001257HP:0002061Lower limb spasticity1FTL CL E G H2512606159Neuroferritinopathy606159C1853578OMIM11853999134790
HP:0001257HP:0002179Opisthotonus1FTL CL E G H2512606159Neuroferritinopathy606159C1853578OMIM11853999134790
HP:0001257HP:0002191Progressive spasticity1FTL CL E G H2512606159Neuroferritinopathy606159C1853578OMIM11853999134790
HP:0001257HP:0001264Spastic diplegia1FTL CL E G H2512606159Neuroferritinopathy606159C1853578OMIM11853999134790
HP:0001257HP:0002464Spastic dysarthria1FTL CL E G H2512606159Neuroferritinopathy606159C1853578OMIM11853999134790
HP:0001257HP:0002064Spastic gait1FTL CL E G H2512606159Neuroferritinopathy606159C1853578OMIM11853999134790
HP:0001257HP:0011099Spastic hemiparesis1FTL CL E G H2512606159Neuroferritinopathy606159C1853578OMIM11853999134790
HP:0001257HP:0001285Spastic tetraparesis1FTL CL E G H2512606159Neuroferritinopathy606159C1853578OMIM11853999134790
HP:0001257HP:0002510Spastic tetraplegia1FTL CL E G H2512606159Neuroferritinopathy606159C1853578OMIM11853999134790
HP:0001257HP:0002501Spasticity of pharyngeal muscles1FTL CL E G H2512606159Neuroferritinopathy606159C1853578OMIM11853999134790
HP:0001257HP:0006986Upper limb spasticity1FTL CL E G H2512606159Neuroferritinopathy606159C1853578OMIM11853999134790
HP:0001257HP:0002491Spasticity of facial muscles1FUS CL E G H2521803ORPHA14744010137070
HP:0001257HP:0031866Clasp-knife sign1FUS CL E G H2521803ORPHA14744010137070
HP:0001257HP:0002061Lower limb spasticity1FUS CL E G H2521803ORPHA14744010137070
HP:0001257HP:0002179Opisthotonus1FUS CL E G H2521803ORPHA14744010137070
HP:0001257HP:0002191Progressive spasticity1FUS CL E G H2521803ORPHA14744010137070
HP:0001257HP:0001264Spastic diplegia1FUS CL E G H2521803ORPHA14744010137070
HP:0001257HP:0002464Spastic dysarthria1FUS CL E G H2521803ORPHA14744010137070
HP:0001257HP:0002064Spastic gait1FUS CL E G H2521803ORPHA14744010137070
HP:0001257HP:0011099Spastic hemiparesis1FUS CL E G H2521803ORPHA14744010137070
HP:0001257HP:0001285Spastic tetraparesis1FUS CL E G H2521803ORPHA14744010137070
HP:0001257HP:0002510Spastic tetraplegia1FUS CL E G H2521803ORPHA14744010137070
HP:0001257HP:0002501Spasticity of pharyngeal muscles1FUS CL E G H2521803ORPHA14744010137070
HP:0001257HP:0006986Upper limb spasticity1FUS CL E G H2521803ORPHA14744010137070
HP:0001257HP:0002491Spasticity of facial muscles1FUS CL E G H2521300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA14744010137070
HP:0001257HP:0031866Clasp-knife sign1FUS CL E G H2521300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA14744010137070
HP:0001257HP:0002061Lower limb spasticity1FUS CL E G H2521300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA14744010137070
HP:0001257HP:0002179Opisthotonus1FUS CL E G H2521300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA14744010137070
HP:0001257HP:0002191Progressive spasticity1FUS CL E G H2521300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA14744010137070
HP:0001257HP:0001264Spastic diplegia1FUS CL E G H2521300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA14744010137070
HP:0001257HP:0002464Spastic dysarthria1FUS CL E G H2521300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA14744010137070
HP:0001257HP:0002064Spastic gait1FUS CL E G H2521300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA14744010137070
HP:0001257HP:0011099Spastic hemiparesis1FUS CL E G H2521300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA14744010137070
HP:0001257HP:0001285Spastic tetraparesis1FUS CL E G H2521300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA14744010137070
HP:0001257HP:0002510Spastic tetraplegia1FUS CL E G H2521300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA14744010137070
HP:0001257HP:0002501Spasticity of pharyngeal muscles1FUS CL E G H2521300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA14744010137070
HP:0001257HP:0006986Upper limb spasticity1FUS CL E G H2521300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA14744010137070
HP:0001257HP:0002491Spasticity of facial muscles1GABBR2 CL E G H95683095ORPHA18484507607340
HP:0001257HP:0031866Clasp-knife sign1GABBR2 CL E G H95683095ORPHA18484507607340
HP:0001257HP:0002061Lower limb spasticity1GABBR2 CL E G H95683095ORPHA18484507607340
HP:0001257HP:0002179Opisthotonus1GABBR2 CL E G H95683095ORPHA18484507607340
HP:0001257HP:0002191Progressive spasticity1GABBR2 CL E G H95683095ORPHA18484507607340
HP:0001257HP:0001264Spastic diplegia1GABBR2 CL E G H95683095ORPHA18484507607340
HP:0001257HP:0002464Spastic dysarthria1GABBR2 CL E G H95683095ORPHA18484507607340
HP:0001257HP:0002064Spastic gait1GABBR2 CL E G H95683095ORPHA18484507607340
HP:0001257HP:0011099Spastic hemiparesis1GABBR2 CL E G H95683095ORPHA18484507607340
HP:0001257HP:0001285Spastic tetraparesis1GABBR2 CL E G H95683095ORPHA18484507607340
HP:0001257HP:0002510Spastic tetraplegia1GABBR2 CL E G H95683095ORPHA18484507607340
HP:0001257HP:0002501Spasticity of pharyngeal muscles1GABBR2 CL E G H95683095ORPHA18484507607340
HP:0001257HP:0006986Upper limb spasticity1GABBR2 CL E G H95683095ORPHA18484507607340
HP:0001257HP:0002491Spasticity of facial muscles1GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM14944082600232
HP:0001257HP:0031866Clasp-knife sign1GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM14944082600232
HP:0001257HP:0002061Lower limb spasticity1GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM14944082600232
HP:0001257HP:0002179Opisthotonus1GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM14944082600232
HP:0001257HP:0002191Progressive spasticity1GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM14944082600232
HP:0001257HP:0001264Spastic diplegia1GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM14944082600232
HP:0001257HP:0002464Spastic dysarthria1GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM14944082600232
HP:0001257HP:0002064Spastic gait1GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM14944082600232
HP:0001257HP:0011099Spastic hemiparesis1GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM14944082600232
HP:0001257HP:0001285Spastic tetraparesis1GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM14944082600232
HP:0001257HP:0002510Spastic tetraplegia1GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM14944082600232
HP:0001257HP:0002501Spasticity of pharyngeal muscles1GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM14944082600232
HP:0001257HP:0006986Upper limb spasticity1GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM14944082600232
HP:0001257HP:0002491Spasticity of facial muscles1GAN CL E G H8139643ORPHA17774137605379
HP:0001257HP:0031866Clasp-knife sign1GAN CL E G H8139643ORPHA17774137605379
HP:0001257HP:0002061Lower limb spasticity1GAN CL E G H8139643ORPHA17774137605379
HP:0001257HP:0002179Opisthotonus1GAN CL E G H8139643ORPHA17774137605379
HP:0001257HP:0002191Progressive spasticity1GAN CL E G H8139643ORPHA17774137605379
HP:0001257HP:0001264Spastic diplegia1GAN CL E G H8139643ORPHA17774137605379
HP:0001257HP:0002464Spastic dysarthria1GAN CL E G H8139643ORPHA17774137605379
HP:0001257HP:0002064Spastic gait1GAN CL E G H8139643ORPHA17774137605379
HP:0001257HP:0011099Spastic hemiparesis1GAN CL E G H8139643ORPHA17774137605379
HP:0001257HP:0001285Spastic tetraparesis1GAN CL E G H8139643ORPHA17774137605379
HP:0001257HP:0002510Spastic tetraplegia1GAN CL E G H8139643ORPHA17774137605379
HP:0001257HP:0002501Spasticity of pharyngeal muscles1GAN CL E G H8139643ORPHA17774137605379
HP:0001257HP:0006986Upper limb spasticity1GAN CL E G H8139643ORPHA17774137605379
HP:0001257HP:0002491Spasticity of facial muscles1GBA CL E G H262977260ORPHA14177606463
HP:0001257HP:0031866Clasp-knife sign1GBA CL E G H262977260ORPHA14177606463
HP:0001257HP:0002061Lower limb spasticity1GBA CL E G H262977260ORPHA14177606463
HP:0001257HP:0002179Opisthotonus1GBA CL E G H262977260ORPHA14177606463
HP:0001257HP:0002191Progressive spasticity1GBA CL E G H262977260ORPHA14177606463
HP:0001257HP:0001264Spastic diplegia1GBA CL E G H262977260ORPHA14177606463
HP:0001257HP:0002464Spastic dysarthria1GBA CL E G H262977260ORPHA14177606463
HP:0001257HP:0002064Spastic gait1GBA CL E G H262977260ORPHA14177606463
HP:0001257HP:0011099Spastic hemiparesis1GBA CL E G H262977260ORPHA14177606463
HP:0001257HP:0001285Spastic tetraparesis1GBA CL E G H262977260ORPHA14177606463
HP:0001257HP:0002510Spastic tetraplegia1GBA CL E G H262977260ORPHA14177606463
HP:0001257HP:0002501Spasticity of pharyngeal muscles1GBA CL E G H262977260ORPHA14177606463
HP:0001257HP:0006986Upper limb spasticity1GBA CL E G H262977260ORPHA14177606463
HP:0001257HP:0002491Spasticity of facial muscles1GBA CL E G H2629230900Acute neuronopathic Gaucher's disease230900C0268250OMIM14177606463
HP:0001257HP:0031866Clasp-knife sign1GBA CL E G H2629230900Acute neuronopathic Gaucher's disease230900C0268250OMIM14177606463
HP:0001257HP:0002061Lower limb spasticity1GBA CL E G H2629230900Acute neuronopathic Gaucher's disease230900C0268250OMIM14177606463
HP:0001257HP:0002179Opisthotonus1GBA CL E G H2629230900Acute neuronopathic Gaucher's disease230900C0268250OMIM14177606463
HP:0001257HP:0002191Progressive spasticity1GBA CL E G H2629230900Acute neuronopathic Gaucher's disease230900C0268250OMIM14177606463
HP:0001257HP:0001264Spastic diplegia1GBA CL E G H2629230900Acute neuronopathic Gaucher's disease230900C0268250OMIM14177606463
HP:0001257HP:0002464Spastic dysarthria1GBA CL E G H2629230900Acute neuronopathic Gaucher's disease230900C0268250OMIM14177606463
HP:0001257HP:0002064Spastic gait1GBA CL E G H2629230900Acute neuronopathic Gaucher's disease230900C0268250OMIM14177606463
HP:0001257HP:0011099Spastic hemiparesis1GBA CL E G H2629230900Acute neuronopathic Gaucher's disease230900C0268250OMIM14177606463
HP:0001257HP:0001285Spastic tetraparesis1GBA CL E G H2629230900Acute neuronopathic Gaucher's disease230900C0268250OMIM14177606463
HP:0001257HP:0002510Spastic tetraplegia1GBA CL E G H2629230900Acute neuronopathic Gaucher's disease230900C0268250OMIM14177606463
HP:0001257HP:0002501Spasticity of pharyngeal muscles1GBA CL E G H2629230900Acute neuronopathic Gaucher's disease230900C0268250OMIM14177606463
HP:0001257HP:0006986Upper limb spasticity1GBA CL E G H2629230900Acute neuronopathic Gaucher's disease230900C0268250OMIM14177606463
HP:0001257HP:0002491Spasticity of facial muscles1GBE1 CL E G H2632206583ORPHA17844180607839
HP:0001257HP:0031866Clasp-knife sign1GBE1 CL E G H2632206583ORPHA17844180607839
HP:0001257HP:0002061Lower limb spasticity1GBE1 CL E G H2632206583ORPHA17844180607839
HP:0001257HP:0002179Opisthotonus1GBE1 CL E G H2632206583ORPHA17844180607839
HP:0001257HP:0002191Progressive spasticity1GBE1 CL E G H2632206583ORPHA17844180607839
HP:0001257HP:0001264Spastic diplegia1GBE1 CL E G H2632206583ORPHA17844180607839
HP:0001257HP:0002464Spastic dysarthria1GBE1 CL E G H2632206583ORPHA17844180607839
HP:0001257HP:0002064Spastic gait1GBE1 CL E G H2632206583ORPHA17844180607839
HP:0001257HP:0011099Spastic hemiparesis1GBE1 CL E G H2632206583ORPHA17844180607839
HP:0001257HP:0001285Spastic tetraparesis1GBE1 CL E G H2632206583ORPHA17844180607839
HP:0001257HP:0002510Spastic tetraplegia1GBE1 CL E G H2632206583ORPHA17844180607839
HP:0001257HP:0002501Spasticity of pharyngeal muscles1GBE1 CL E G H2632206583ORPHA17844180607839
HP:0001257HP:0006986Upper limb spasticity1GBE1 CL E G H2632206583ORPHA17844180607839
HP:0001257HP:0002491Spasticity of facial muscles1GCDH CL E G H263925ORPHA17204189608801
HP:0001257HP:0031866Clasp-knife sign1GCDH CL E G H263925ORPHA17204189608801
HP:0001257HP:0002061Lower limb spasticity1GCDH CL E G H263925ORPHA17204189608801
HP:0001257HP:0002179Opisthotonus1GCDH CL E G H263925ORPHA17204189608801
HP:0001257HP:0002191Progressive spasticity1GCDH CL E G H263925ORPHA17204189608801
HP:0001257HP:0001264Spastic diplegia1GCDH CL E G H263925ORPHA17204189608801
HP:0001257HP:0002464Spastic dysarthria1GCDH CL E G H263925ORPHA17204189608801
HP:0001257HP:0002064Spastic gait1GCDH CL E G H263925ORPHA17204189608801
HP:0001257HP:0011099Spastic hemiparesis1GCDH CL E G H263925ORPHA17204189608801
HP:0001257HP:0001285Spastic tetraparesis1GCDH CL E G H263925ORPHA17204189608801
HP:0001257HP:0002510Spastic tetraplegia1GCDH CL E G H263925ORPHA17204189608801
HP:0001257HP:0002501Spasticity of pharyngeal muscles1GCDH CL E G H263925ORPHA17204189608801
HP:0001257HP:0006986Upper limb spasticity1GCDH CL E G H263925ORPHA17204189608801
HP:0001257HP:0002491Spasticity of facial muscles1GFAP CL E G H2670203450Alexander's disease203450C0270726OMIM14554235137780
HP:0001257HP:0031866Clasp-knife sign1GFAP CL E G H2670203450Alexander's disease203450C0270726OMIM14554235137780
HP:0001257HP:0002061Lower limb spasticity1GFAP CL E G H2670203450Alexander's disease203450C0270726OMIM14554235137780
HP:0001257HP:0002179Opisthotonus1GFAP CL E G H2670203450Alexander's disease203450C0270726OMIM14554235137780
HP:0001257HP:0002191Progressive spasticity1GFAP CL E G H2670203450Alexander's disease203450C0270726OMIM14554235137780
HP:0001257HP:0001264Spastic diplegia1GFAP CL E G H2670203450Alexander's disease203450C0270726OMIM14554235137780
HP:0001257HP:0002464Spastic dysarthria1GFAP CL E G H2670203450Alexander's disease203450C0270726OMIM14554235137780
HP:0001257HP:0002064Spastic gait1GFAP CL E G H2670203450Alexander's disease203450C0270726OMIM14554235137780
HP:0001257HP:0011099Spastic hemiparesis1GFAP CL E G H2670203450Alexander's disease203450C0270726OMIM14554235137780
HP:0001257HP:0001285Spastic tetraparesis1GFAP CL E G H2670203450Alexander's disease203450C0270726OMIM14554235137780
HP:0001257HP:0002510Spastic tetraplegia1GFAP CL E G H2670203450Alexander's disease203450C0270726OMIM14554235137780
HP:0001257HP:0002501Spasticity of pharyngeal muscles1GFAP CL E G H2670203450Alexander's disease203450C0270726OMIM14554235137780
HP:0001257HP:0006986Upper limb spasticity1GFAP CL E G H2670203450Alexander's disease203450C0270726OMIM14554235137780
HP:0001257HP:0002491Spasticity of facial muscles1GFM1 CL E G H85476609060Combined oxidative phosphorylation deficiency 1609060C1836797OMIM165013780606639
HP:0001257HP:0031866Clasp-knife sign1GFM1 CL E G H85476609060Combined oxidative phosphorylation deficiency 1609060C1836797OMIM165013780606639
HP:0001257HP:0002061Lower limb spasticity1GFM1 CL E G H85476609060Combined oxidative phosphorylation deficiency 1609060C1836797OMIM165013780606639
HP:0001257HP:0002179Opisthotonus1GFM1 CL E G H85476609060Combined oxidative phosphorylation deficiency 1609060C1836797OMIM165013780606639
HP:0001257HP:0002191Progressive spasticity1GFM1 CL E G H85476609060Combined oxidative phosphorylation deficiency 1609060C1836797OMIM165013780606639
HP:0001257HP:0001264Spastic diplegia1GFM1 CL E G H85476609060Combined oxidative phosphorylation deficiency 1609060C1836797OMIM165013780606639
HP:0001257HP:0002464Spastic dysarthria1GFM1 CL E G H85476609060Combined oxidative phosphorylation deficiency 1609060C1836797OMIM165013780606639
HP:0001257HP:0002064Spastic gait1GFM1 CL E G H85476609060Combined oxidative phosphorylation deficiency 1609060C1836797OMIM165013780606639
HP:0001257HP:0011099Spastic hemiparesis1GFM1 CL E G H85476609060Combined oxidative phosphorylation deficiency 1609060C1836797OMIM165013780606639
HP:0001257HP:0001285Spastic tetraparesis1GFM1 CL E G H85476609060Combined oxidative phosphorylation deficiency 1609060C1836797OMIM165013780606639
HP:0001257HP:0002510Spastic tetraplegia1GFM1 CL E G H85476609060Combined oxidative phosphorylation deficiency 1609060C1836797OMIM165013780606639
HP:0001257HP:0002501Spasticity of pharyngeal muscles1GFM1 CL E G H85476609060Combined oxidative phosphorylation deficiency 1609060C1836797OMIM165013780606639
HP:0001257HP:0006986Upper limb spasticity1GFM1 CL E G H85476609060Combined oxidative phosphorylation deficiency 1609060C1836797OMIM165013780606639
HP:0001257HP:0002491Spasticity of facial muscles1GJA1 CL E G H2697164200Oculodentodigital dysplasia164200C0812437OMIM12724274121014
HP:0001257HP:0031866Clasp-knife sign1GJA1 CL E G H2697164200Oculodentodigital dysplasia164200C0812437OMIM12724274121014
HP:0001257HP:0002061Lower limb spasticity1GJA1 CL E G H2697164200Oculodentodigital dysplasia164200C0812437OMIM12724274121014
HP:0001257HP:0002179Opisthotonus1GJA1 CL E G H2697164200Oculodentodigital dysplasia164200C0812437OMIM12724274121014
HP:0001257HP:0002191Progressive spasticity1GJA1 CL E G H2697164200Oculodentodigital dysplasia164200C0812437OMIM12724274121014
HP:0001257HP:0001264Spastic diplegia1GJA1 CL E G H2697164200Oculodentodigital dysplasia164200C0812437OMIM12724274121014
HP:0001257HP:0002464Spastic dysarthria1GJA1 CL E G H2697164200Oculodentodigital dysplasia164200C0812437OMIM12724274121014
HP:0001257HP:0002064Spastic gait1GJA1 CL E G H2697164200Oculodentodigital dysplasia164200C0812437OMIM12724274121014
HP:0001257HP:0011099Spastic hemiparesis1GJA1 CL E G H2697164200Oculodentodigital dysplasia164200C0812437OMIM12724274121014
HP:0001257HP:0001285Spastic tetraparesis1GJA1 CL E G H2697164200Oculodentodigital dysplasia164200C0812437OMIM12724274121014
HP:0001257HP:0002510Spastic tetraplegia1GJA1 CL E G H2697164200Oculodentodigital dysplasia164200C0812437OMIM12724274121014
HP:0001257HP:0002501Spasticity of pharyngeal muscles1GJA1 CL E G H2697164200Oculodentodigital dysplasia164200C0812437OMIM12724274121014
HP:0001257HP:0006986Upper limb spasticity1GJA1 CL E G H2697164200Oculodentodigital dysplasia164200C0812437OMIM12724274121014
HP:0001257HP:0002491Spasticity of facial muscles1GLE1 CL E G H2733803ORPHA14754315603371
HP:0001257HP:0031866Clasp-knife sign1GLE1 CL E G H2733803ORPHA14754315603371
HP:0001257HP:0002061Lower limb spasticity1GLE1 CL E G H2733803ORPHA14754315603371
HP:0001257HP:0002179Opisthotonus1GLE1 CL E G H2733803ORPHA14754315603371
HP:0001257HP:0002191Progressive spasticity1GLE1 CL E G H2733803ORPHA14754315603371
HP:0001257HP:0001264Spastic diplegia1GLE1 CL E G H2733803ORPHA14754315603371
HP:0001257HP:0002464Spastic dysarthria1GLE1 CL E G H2733803ORPHA14754315603371
HP:0001257HP:0002064Spastic gait1GLE1 CL E G H2733803ORPHA14754315603371
HP:0001257HP:0011099Spastic hemiparesis1GLE1 CL E G H2733803ORPHA14754315603371
HP:0001257HP:0001285Spastic tetraparesis1GLE1 CL E G H2733803ORPHA14754315603371
HP:0001257HP:0002510Spastic tetraplegia1GLE1 CL E G H2733803ORPHA14754315603371
HP:0001257HP:0002501Spasticity of pharyngeal muscles1GLE1 CL E G H2733803ORPHA14754315603371
HP:0001257HP:0006986Upper limb spasticity1GLE1 CL E G H2733803ORPHA14754315603371
HP:0001257HP:0002491Spasticity of facial muscles1GLRA1 CL E G H27413197Lateral body wall defectORPHA14474326138491
HP:0001257HP:0031866Clasp-knife sign1GLRA1 CL E G H27413197Lateral body wall defectORPHA14474326138491
HP:0001257HP:0002061Lower limb spasticity1GLRA1 CL E G H27413197Lateral body wall defectORPHA14474326138491
HP:0001257HP:0002179Opisthotonus1GLRA1 CL E G H27413197Lateral body wall defectORPHA14474326138491
HP:0001257HP:0002191Progressive spasticity1GLRA1 CL E G H27413197Lateral body wall defectORPHA14474326138491
HP:0001257HP:0001264Spastic diplegia1GLRA1 CL E G H27413197Lateral body wall defectORPHA14474326138491
HP:0001257HP:0002464Spastic dysarthria1GLRA1 CL E G H27413197Lateral body wall defectORPHA14474326138491
HP:0001257HP:0002064Spastic gait1GLRA1 CL E G H27413197Lateral body wall defectORPHA14474326138491
HP:0001257HP:0011099Spastic hemiparesis1GLRA1 CL E G H27413197Lateral body wall defectORPHA14474326138491
HP:0001257HP:0001285Spastic tetraparesis1GLRA1 CL E G H27413197Lateral body wall defectORPHA14474326138491
HP:0001257HP:0002510Spastic tetraplegia1GLRA1 CL E G H27413197Lateral body wall defectORPHA14474326138491
HP:0001257HP:0002501Spasticity of pharyngeal muscles1GLRA1 CL E G H27413197Lateral body wall defectORPHA14474326138491
HP:0001257HP:0006986Upper limb spasticity1GLRA1 CL E G H27413197Lateral body wall defectORPHA14474326138491
HP:0001257HP:0002491Spasticity of facial muscles1GLRB CL E G H27433197Lateral body wall defectORPHA13794329138492
HP:0001257HP:0031866Clasp-knife sign1GLRB CL E G H27433197Lateral body wall defectORPHA13794329138492
HP:0001257HP:0002061Lower limb spasticity1GLRB CL E G H27433197Lateral body wall defectORPHA13794329138492
HP:0001257HP:0002179Opisthotonus1GLRB CL E G H27433197Lateral body wall defectORPHA13794329138492
HP:0001257HP:0002191Progressive spasticity1GLRB CL E G H27433197Lateral body wall defectORPHA13794329138492
HP:0001257HP:0001264Spastic diplegia1GLRB CL E G H27433197Lateral body wall defectORPHA13794329138492
HP:0001257HP:0002464Spastic dysarthria1GLRB CL E G H27433197Lateral body wall defectORPHA13794329138492
HP:0001257HP:0002064Spastic gait1GLRB CL E G H27433197Lateral body wall defectORPHA13794329138492
HP:0001257HP:0011099Spastic hemiparesis1GLRB CL E G H27433197Lateral body wall defectORPHA13794329138492
HP:0001257HP:0001285Spastic tetraparesis1GLRB CL E G H27433197Lateral body wall defectORPHA13794329138492
HP:0001257HP:0002510Spastic tetraplegia1GLRB CL E G H27433197Lateral body wall defectORPHA13794329138492
HP:0001257HP:0002501Spasticity of pharyngeal muscles1GLRB CL E G H27433197Lateral body wall defectORPHA13794329138492
HP:0001257HP:0006986Upper limb spasticity1GLRB CL E G H27433197Lateral body wall defectORPHA13794329138492
HP:0001257HP:0002491Spasticity of facial muscles1GNAO1 CL E G H2775617493Neurodevelopmental disorder with involuntary movements617493C4479569OMIM14294389139311
HP:0001257HP:0031866Clasp-knife sign1GNAO1 CL E G H2775617493Neurodevelopmental disorder with involuntary movements617493C4479569OMIM14294389139311
HP:0001257HP:0002061Lower limb spasticity1GNAO1 CL E G H2775617493Neurodevelopmental disorder with involuntary movements617493C4479569OMIM14294389139311
HP:0001257HP:0002179Opisthotonus1GNAO1 CL E G H2775617493Neurodevelopmental disorder with involuntary movements617493C4479569OMIM14294389139311
HP:0001257HP:0002191Progressive spasticity1GNAO1 CL E G H2775617493Neurodevelopmental disorder with involuntary movements617493C4479569OMIM14294389139311
HP:0001257HP:0001264Spastic diplegia1GNAO1 CL E G H2775617493Neurodevelopmental disorder with involuntary movements617493C4479569OMIM14294389139311
HP:0001257HP:0002464Spastic dysarthria1GNAO1 CL E G H2775617493Neurodevelopmental disorder with involuntary movements617493C4479569OMIM14294389139311
HP:0001257HP:0002064Spastic gait1GNAO1 CL E G H2775617493Neurodevelopmental disorder with involuntary movements617493C4479569OMIM14294389139311
HP:0001257HP:0011099Spastic hemiparesis1GNAO1 CL E G H2775617493Neurodevelopmental disorder with involuntary movements617493C4479569OMIM14294389139311
HP:0001257HP:0001285Spastic tetraparesis1GNAO1 CL E G H2775617493Neurodevelopmental disorder with involuntary movements617493C4479569OMIM14294389139311
HP:0001257HP:0002510Spastic tetraplegia1GNAO1 CL E G H2775617493Neurodevelopmental disorder with involuntary movements617493C4479569OMIM14294389139311
HP:0001257HP:0002501Spasticity of pharyngeal muscles1GNAO1 CL E G H2775617493Neurodevelopmental disorder with involuntary movements617493C4479569OMIM14294389139311
HP:0001257HP:0006986Upper limb spasticity1GNAO1 CL E G H2775617493Neurodevelopmental disorder with involuntary movements617493C4479569OMIM14294389139311
HP:0001257HP:0002491Spasticity of facial muscles1GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM15274446603048
HP:0001257HP:0031866Clasp-knife sign1GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM15274446603048
HP:0001257HP:0002061Lower limb spasticity1GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM15274446603048
HP:0001257HP:0002179Opisthotonus1GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM15274446603048
HP:0001257HP:0002191Progressive spasticity1GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM15274446603048
HP:0001257HP:0001264Spastic diplegia1GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM15274446603048
HP:0001257HP:0002464Spastic dysarthria1GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM15274446603048
HP:0001257HP:0002064Spastic gait1GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM15274446603048
HP:0001257HP:0011099Spastic hemiparesis1GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM15274446603048
HP:0001257HP:0001285Spastic tetraparesis1GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM15274446603048
HP:0001257HP:0002510Spastic tetraplegia1GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM15274446603048
HP:0001257HP:0002501Spasticity of pharyngeal muscles1GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM15274446603048
HP:0001257HP:0006986Upper limb spasticity1GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM15274446603048
HP:0001257HP:0002491Spasticity of facial muscles1GPHN CL E G H102433197Lateral body wall defectORPHA1147315465603930
HP:0001257HP:0031866Clasp-knife sign1GPHN CL E G H102433197Lateral body wall defectORPHA1147315465603930
HP:0001257HP:0002061Lower limb spasticity1GPHN CL E G H102433197Lateral body wall defectORPHA1147315465603930
HP:0001257HP:0002179Opisthotonus1GPHN CL E G H102433197Lateral body wall defectORPHA1147315465603930
HP:0001257HP:0002191Progressive spasticity1GPHN CL E G H102433197Lateral body wall defectORPHA1147315465603930
HP:0001257HP:0001264Spastic diplegia1GPHN CL E G H102433197Lateral body wall defectORPHA1147315465603930
HP:0001257HP:0002464Spastic dysarthria1GPHN CL E G H102433197Lateral body wall defectORPHA1147315465603930
HP:0001257HP:0002064Spastic gait1GPHN CL E G H102433197Lateral body wall defectORPHA1147315465603930
HP:0001257HP:0011099Spastic hemiparesis1GPHN CL E G H102433197Lateral body wall defectORPHA1147315465603930
HP:0001257HP:0001285Spastic tetraparesis1GPHN CL E G H102433197Lateral body wall defectORPHA1147315465603930
HP:0001257HP:0002510Spastic tetraplegia1GPHN CL E G H102433197Lateral body wall defectORPHA1147315465603930
HP:0001257HP:0002501Spasticity of pharyngeal muscles1GPHN CL E G H102433197Lateral body wall defectORPHA1147315465603930
HP:0001257HP:0006986Upper limb spasticity1GPHN CL E G H102433197Lateral body wall defectORPHA1147315465603930
HP:0001257HP:0002491Spasticity of facial muscles1GPT2 CL E G H84706616281Mental retardation, autosomal recessive 49616281C4225388OMIM110918062138210
HP:0001257HP:0031866Clasp-knife sign1GPT2 CL E G H84706616281Mental retardation, autosomal recessive 49616281C4225388OMIM110918062138210
HP:0001257HP:0002061Lower limb spasticity1GPT2 CL E G H84706616281Mental retardation, autosomal recessive 49616281C4225388OMIM110918062138210
HP:0001257HP:0002179Opisthotonus1GPT2 CL E G H84706616281Mental retardation, autosomal recessive 49616281C4225388OMIM110918062138210
HP:0001257HP:0002191Progressive spasticity1GPT2 CL E G H84706616281Mental retardation, autosomal recessive 49616281C4225388OMIM110918062138210
HP:0001257HP:0001264Spastic diplegia1GPT2 CL E G H84706616281Mental retardation, autosomal recessive 49616281C4225388OMIM110918062138210
HP:0001257HP:0002464Spastic dysarthria1GPT2 CL E G H84706616281Mental retardation, autosomal recessive 49616281C4225388OMIM110918062138210
HP:0001257HP:0002064Spastic gait1GPT2 CL E G H84706616281Mental retardation, autosomal recessive 49616281C4225388OMIM110918062138210
HP:0001257HP:0011099Spastic hemiparesis1GPT2 CL E G H84706616281Mental retardation, autosomal recessive 49616281C4225388OMIM110918062138210
HP:0001257HP:0001285Spastic tetraparesis1GPT2 CL E G H84706616281Mental retardation, autosomal recessive 49616281C4225388OMIM110918062138210
HP:0001257HP:0002510Spastic tetraplegia1GPT2 CL E G H84706616281Mental retardation, autosomal recessive 49616281C4225388OMIM110918062138210
HP:0001257HP:0002501Spasticity of pharyngeal muscles1GPT2 CL E G H84706616281Mental retardation, autosomal recessive 49616281C4225388OMIM110918062138210
HP:0001257HP:0006986Upper limb spasticity1GPT2 CL E G H84706616281Mental retardation, autosomal recessive 49616281C4225388OMIM110918062138210
HP:0001257HP:0002491Spasticity of facial muscles1GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM19294584138249
HP:0001257HP:0031866Clasp-knife sign1GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM19294584138249
HP:0001257HP:0002061Lower limb spasticity1GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM19294584138249
HP:0001257HP:0002179Opisthotonus1GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM19294584138249
HP:0001257HP:0002191Progressive spasticity1GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM19294584138249
HP:0001257HP:0001264Spastic diplegia1GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM19294584138249
HP:0001257HP:0002464Spastic dysarthria1GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM19294584138249
HP:0001257HP:0002064Spastic gait1GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM19294584138249
HP:0001257HP:0011099Spastic hemiparesis1GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM19294584138249
HP:0001257HP:0001285Spastic tetraparesis1GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM19294584138249
HP:0001257HP:0002510Spastic tetraplegia1GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM19294584138249
HP:0001257HP:0002501Spasticity of pharyngeal muscles1GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM19294584138249
HP:0001257HP:0006986Upper limb spasticity1GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM19294584138249
HP:0001257HP:0002491Spasticity of facial muscles1GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0001257HP:0031866Clasp-knife sign1GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0001257HP:0002061Lower limb spasticity1GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0001257HP:0002179Opisthotonus1GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0001257HP:0002191Progressive spasticity1GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0001257HP:0001264Spastic diplegia1GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0001257HP:0002464Spastic dysarthria1GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0001257HP:0002064Spastic gait1GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0001257HP:0011099Spastic hemiparesis1GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0001257HP:0001285Spastic tetraparesis1GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0001257HP:0002510Spastic tetraplegia1GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0001257HP:0002501Spasticity of pharyngeal muscles1GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0001257HP:0006986Upper limb spasticity1GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0001257HP:0002491Spasticity of facial muscles1GRIN2B CL E G H2904616139Epileptic encephalopathy, early infantile, 27616139C4015316OMIM113534586138252
HP:0001257HP:0031866Clasp-knife sign1GRIN2B CL E G H2904616139Epileptic encephalopathy, early infantile, 27616139C4015316OMIM113534586138252
HP:0001257HP:0002061Lower limb spasticity1GRIN2B CL E G H2904616139Epileptic encephalopathy, early infantile, 27616139C4015316OMIM113534586138252
HP:0001257HP:0002179Opisthotonus1GRIN2B CL E G H2904616139Epileptic encephalopathy, early infantile, 27616139C4015316OMIM113534586138252
HP:0001257HP:0002191Progressive spasticity1GRIN2B CL E G H2904616139Epileptic encephalopathy, early infantile, 27616139C4015316OMIM113534586138252
HP:0001257HP:0001264Spastic diplegia1GRIN2B CL E G H2904616139Epileptic encephalopathy, early infantile, 27616139C4015316OMIM113534586138252
HP:0001257HP:0002464Spastic dysarthria1GRIN2B CL E G H2904616139Epileptic encephalopathy, early infantile, 27616139C4015316OMIM113534586138252
HP:0001257HP:0002064Spastic gait1GRIN2B CL E G H2904616139Epileptic encephalopathy, early infantile, 27616139C4015316OMIM113534586138252
HP:0001257HP:0011099Spastic hemiparesis1GRIN2B CL E G H2904616139Epileptic encephalopathy, early infantile, 27616139C4015316OMIM113534586138252
HP:0001257HP:0001285Spastic tetraparesis1GRIN2B CL E G H2904616139Epileptic encephalopathy, early infantile, 27616139C4015316OMIM113534586138252
HP:0001257HP:0002510Spastic tetraplegia1GRIN2B CL E G H2904616139Epileptic encephalopathy, early infantile, 27616139C4015316OMIM113534586138252
HP:0001257HP:0002501Spasticity of pharyngeal muscles1GRIN2B CL E G H2904616139Epileptic encephalopathy, early infantile, 27616139C4015316OMIM113534586138252
HP:0001257HP:0006986Upper limb spasticity1GRIN2B CL E G H2904616139Epileptic encephalopathy, early infantile, 27616139C4015316OMIM113534586138252
HP:0001257HP:0002491Spasticity of facial muscles1GRIN2B CL E G H2904613970Mental retardation, autosomal dominant 6613970C3151411OMIM113534586138252
HP:0001257HP:0031866Clasp-knife sign1GRIN2B CL E G H2904613970Mental retardation, autosomal dominant 6613970C3151411OMIM113534586138252
HP:0001257HP:0002061Lower limb spasticity1GRIN2B CL E G H2904613970Mental retardation, autosomal dominant 6613970C3151411OMIM113534586138252
HP:0001257HP:0002179Opisthotonus1GRIN2B CL E G H2904613970Mental retardation, autosomal dominant 6613970C3151411OMIM113534586138252
HP:0001257HP:0002191Progressive spasticity1GRIN2B CL E G H2904613970Mental retardation, autosomal dominant 6613970C3151411OMIM113534586138252
HP:0001257HP:0001264Spastic diplegia1GRIN2B CL E G H2904613970Mental retardation, autosomal dominant 6613970C3151411OMIM113534586138252
HP:0001257HP:0002464Spastic dysarthria1GRIN2B CL E G H2904613970Mental retardation, autosomal dominant 6613970C3151411OMIM113534586138252
HP:0001257HP:0002064Spastic gait1GRIN2B CL E G H2904613970Mental retardation, autosomal dominant 6613970C3151411OMIM113534586138252
HP:0001257HP:0011099Spastic hemiparesis1GRIN2B CL E G H2904613970Mental retardation, autosomal dominant 6613970C3151411OMIM113534586138252
HP:0001257HP:0001285Spastic tetraparesis1GRIN2B CL E G H2904613970Mental retardation, autosomal dominant 6613970C3151411OMIM113534586138252
HP:0001257HP:0002510Spastic tetraplegia1GRIN2B CL E G H2904613970Mental retardation, autosomal dominant 6613970C3151411OMIM113534586138252
HP:0001257HP:0002501Spasticity of pharyngeal muscles1GRIN2B CL E G H2904613970Mental retardation, autosomal dominant 6613970C3151411OMIM113534586138252
HP:0001257HP:0006986Upper limb spasticity1GRIN2B CL E G H2904613970Mental retardation, autosomal dominant 6613970C3151411OMIM113534586138252
HP:0001257HP:0002491Spasticity of facial muscles1GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0001257HP:0031866Clasp-knife sign1GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0001257HP:0002061Lower limb spasticity1GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0001257HP:0002179Opisthotonus1GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0001257HP:0002191Progressive spasticity1GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0001257HP:0001264Spastic diplegia1GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0001257HP:0002464Spastic dysarthria1GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0001257HP:0002064Spastic gait1GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0001257HP:0011099Spastic hemiparesis1GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0001257HP:0001285Spastic tetraparesis1GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0001257HP:0002510Spastic tetraplegia1GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0001257HP:0002501Spasticity of pharyngeal muscles1GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0001257HP:0006986Upper limb spasticity1GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0001257HP:0002491Spasticity of facial muscles1GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0001257HP:0031866Clasp-knife sign1GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0001257HP:0002061Lower limb spasticity1GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0001257HP:0002179Opisthotonus1GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0001257HP:0002191Progressive spasticity1GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0001257HP:0001264Spastic diplegia1GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0001257HP:0002464Spastic dysarthria1GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0001257HP:0002064Spastic gait1GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0001257HP:0011099Spastic hemiparesis1GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0001257HP:0001285Spastic tetraparesis1GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0001257HP:0002510Spastic tetraplegia1GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0001257HP:0002501Spasticity of pharyngeal muscles1GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0001257HP:0006986Upper limb spasticity1GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0001257HP:0002491Spasticity of facial muscles1GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM11474670607434
HP:0001257HP:0031866Clasp-knife sign1GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM11474670607434
HP:0001257HP:0002061Lower limb spasticity1GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM11474670607434
HP:0001257HP:0002179Opisthotonus1GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM11474670607434
HP:0001257HP:0002191Progressive spasticity1GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM11474670607434
HP:0001257HP:0001264Spastic diplegia1GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM11474670607434
HP:0001257HP:0002464Spastic dysarthria1GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM11474670607434
HP:0001257HP:0002064Spastic gait1GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM11474670607434
HP:0001257HP:0011099Spastic hemiparesis1GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM11474670607434
HP:0001257HP:0001285Spastic tetraparesis1GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM11474670607434
HP:0001257HP:0002510Spastic tetraplegia1GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM11474670607434
HP:0001257HP:0002501Spasticity of pharyngeal muscles1GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM11474670607434
HP:0001257HP:0006986Upper limb spasticity1GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM11474670607434
HP:0001257HP:0002491Spasticity of facial muscles1GUF1 CL E G H60558617065Epileptic encephalopathy, early infantile, 40617065C4310737OMIM130925799617064
HP:0001257HP:0031866Clasp-knife sign1GUF1 CL E G H60558617065Epileptic encephalopathy, early infantile, 40617065C4310737OMIM130925799617064
HP:0001257HP:0002061Lower limb spasticity1GUF1 CL E G H60558617065Epileptic encephalopathy, early infantile, 40617065C4310737OMIM130925799617064
HP:0001257HP:0002179Opisthotonus1GUF1 CL E G H60558617065Epileptic encephalopathy, early infantile, 40617065C4310737OMIM130925799617064
HP:0001257HP:0002191Progressive spasticity1GUF1 CL E G H60558617065Epileptic encephalopathy, early infantile, 40617065C4310737OMIM130925799617064
HP:0001257HP:0001264Spastic diplegia1GUF1 CL E G H60558617065Epileptic encephalopathy, early infantile, 40617065C4310737OMIM130925799617064
HP:0001257HP:0002464Spastic dysarthria1GUF1 CL E G H60558617065Epileptic encephalopathy, early infantile, 40617065C4310737OMIM130925799617064
HP:0001257HP:0002064Spastic gait1GUF1 CL E G H60558617065Epileptic encephalopathy, early infantile, 40617065C4310737OMIM130925799617064
HP:0001257HP:0011099Spastic hemiparesis1GUF1 CL E G H60558617065Epileptic encephalopathy, early infantile, 40617065C4310737OMIM130925799617064
HP:0001257HP:0001285Spastic tetraparesis1GUF1 CL E G H60558617065Epileptic encephalopathy, early infantile, 40617065C4310737OMIM130925799617064
HP:0001257HP:0002510Spastic tetraplegia1GUF1 CL E G H60558617065Epileptic encephalopathy, early infantile, 40617065C4310737OMIM130925799617064
HP:0001257HP:0002501Spasticity of pharyngeal muscles1GUF1 CL E G H60558617065Epileptic encephalopathy, early infantile, 40617065C4310737OMIM130925799617064
HP:0001257HP:0006986Upper limb spasticity1GUF1 CL E G H60558617065Epileptic encephalopathy, early infantile, 40617065C4310737OMIM130925799617064
HP:0001257HP:0002491Spasticity of facial muscles1HEPACAM CL E G H220296604004Megalencephalic leukoencephalopathy with subcortical cysts 1604004C1858854OMIM130426361611642
HP:0001257HP:0031866Clasp-knife sign1HEPACAM CL E G H220296604004Megalencephalic leukoencephalopathy with subcortical cysts 1604004C1858854OMIM130426361611642
HP:0001257HP:0002061Lower limb spasticity1HEPACAM CL E G H220296604004Megalencephalic leukoencephalopathy with subcortical cysts 1604004C1858854OMIM130426361611642
HP:0001257HP:0002179Opisthotonus1HEPACAM CL E G H220296604004Megalencephalic leukoencephalopathy with subcortical cysts 1604004C1858854OMIM130426361611642
HP:0001257HP:0002191Progressive spasticity1HEPACAM CL E G H220296604004Megalencephalic leukoencephalopathy with subcortical cysts 1604004C1858854OMIM130426361611642
HP:0001257HP:0001264Spastic diplegia1HEPACAM CL E G H220296604004Megalencephalic leukoencephalopathy with subcortical cysts 1604004C1858854OMIM130426361611642
HP:0001257HP:0002464Spastic dysarthria1HEPACAM CL E G H220296604004Megalencephalic leukoencephalopathy with subcortical cysts 1604004C1858854OMIM130426361611642
HP:0001257HP:0002064Spastic gait1HEPACAM CL E G H220296604004Megalencephalic leukoencephalopathy with subcortical cysts 1604004C1858854OMIM130426361611642
HP:0001257HP:0011099Spastic hemiparesis1HEPACAM CL E G H220296604004Megalencephalic leukoencephalopathy with subcortical cysts 1604004C1858854OMIM130426361611642
HP:0001257HP:0001285Spastic tetraparesis1HEPACAM CL E G H220296604004Megalencephalic leukoencephalopathy with subcortical cysts 1604004C1858854OMIM130426361611642
HP:0001257HP:0002510Spastic tetraplegia1HEPACAM CL E G H220296604004Megalencephalic leukoencephalopathy with subcortical cysts 1604004C1858854OMIM130426361611642
HP:0001257HP:0002501Spasticity of pharyngeal muscles1HEPACAM CL E G H220296604004Megalencephalic leukoencephalopathy with subcortical cysts 1604004C1858854OMIM130426361611642
HP:0001257HP:0006986Upper limb spasticity1HEPACAM CL E G H220296604004Megalencephalic leukoencephalopathy with subcortical cysts 1604004C1858854OMIM130426361611642
HP:0001257HP:0002491Spasticity of facial muscles1HEPACAM CL E G H220296613925Megalencephalic leukoencephalopathy with subcortical cysts 2a613925C3151355OMIM130426361611642
HP:0001257HP:0031866Clasp-knife sign1HEPACAM CL E G H220296613925Megalencephalic leukoencephalopathy with subcortical cysts 2a613925C3151355OMIM130426361611642
HP:0001257HP:0002061Lower limb spasticity1HEPACAM CL E G H220296613925Megalencephalic leukoencephalopathy with subcortical cysts 2a613925C3151355OMIM130426361611642
HP:0001257HP:0002179Opisthotonus1HEPACAM CL E G H220296613925Megalencephalic leukoencephalopathy with subcortical cysts 2a613925C3151355OMIM130426361611642
HP:0001257HP:0002191Progressive spasticity1HEPACAM CL E G H220296613925Megalencephalic leukoencephalopathy with subcortical cysts 2a613925C3151355OMIM130426361611642
HP:0001257HP:0001264Spastic diplegia1HEPACAM CL E G H220296613925Megalencephalic leukoencephalopathy with subcortical cysts 2a613925C3151355OMIM130426361611642
HP:0001257HP:0002464Spastic dysarthria1HEPACAM CL E G H220296613925Megalencephalic leukoencephalopathy with subcortical cysts 2a613925C3151355OMIM130426361611642
HP:0001257HP:0002064Spastic gait1HEPACAM CL E G H220296613925Megalencephalic leukoencephalopathy with subcortical cysts 2a613925C3151355OMIM130426361611642
HP:0001257HP:0011099Spastic hemiparesis1HEPACAM CL E G H220296613925Megalencephalic leukoencephalopathy with subcortical cysts 2a613925C3151355OMIM130426361611642
HP:0001257HP:0001285Spastic tetraparesis1HEPACAM CL E G H220296613925Megalencephalic leukoencephalopathy with subcortical cysts 2a613925C3151355OMIM130426361611642
HP:0001257HP:0002510Spastic tetraplegia1HEPACAM CL E G H220296613925Megalencephalic leukoencephalopathy with subcortical cysts 2a613925C3151355OMIM130426361611642
HP:0001257HP:0002501Spasticity of pharyngeal muscles1HEPACAM CL E G H220296613925Megalencephalic leukoencephalopathy with subcortical cysts 2a613925C3151355OMIM130426361611642
HP:0001257HP:0006986Upper limb spasticity1HEPACAM CL E G H220296613925Megalencephalic leukoencephalopathy with subcortical cysts 2a613925C3151355OMIM130426361611642
HP:0001257HP:0002491Spasticity of facial muscles1HIKESHI CL E G H51501616881Leukodystrophy, hypomyelinating, 13616881C4225170OMIM17626938614908
HP:0001257HP:0031866Clasp-knife sign1HIKESHI CL E G H51501616881Leukodystrophy, hypomyelinating, 13616881C4225170OMIM17626938614908
HP:0001257HP:0002061Lower limb spasticity1HIKESHI CL E G H51501616881Leukodystrophy, hypomyelinating, 13616881C4225170OMIM17626938614908
HP:0001257HP:0002179Opisthotonus1HIKESHI CL E G H51501616881Leukodystrophy, hypomyelinating, 13616881C4225170OMIM17626938614908
HP:0001257HP:0002191Progressive spasticity1HIKESHI CL E G H51501616881Leukodystrophy, hypomyelinating, 13616881C4225170OMIM17626938614908
HP:0001257HP:0001264Spastic diplegia1HIKESHI CL E G H51501616881Leukodystrophy, hypomyelinating, 13616881C4225170OMIM17626938614908
HP:0001257HP:0002464Spastic dysarthria1HIKESHI CL E G H51501616881Leukodystrophy, hypomyelinating, 13616881C4225170OMIM17626938614908
HP:0001257HP:0002064Spastic gait1HIKESHI CL E G H51501616881Leukodystrophy, hypomyelinating, 13616881C4225170OMIM17626938614908
HP:0001257HP:0011099Spastic hemiparesis1HIKESHI CL E G H51501616881Leukodystrophy, hypomyelinating, 13616881C4225170OMIM17626938614908
HP:0001257HP:0001285Spastic tetraparesis1HIKESHI CL E G H51501616881Leukodystrophy, hypomyelinating, 13616881C4225170OMIM17626938614908
HP:0001257HP:0002510Spastic tetraplegia1HIKESHI CL E G H51501616881Leukodystrophy, hypomyelinating, 13616881C4225170OMIM17626938614908
HP:0001257HP:0002501Spasticity of pharyngeal muscles1HIKESHI CL E G H51501616881Leukodystrophy, hypomyelinating, 13616881C4225170OMIM17626938614908
HP:0001257HP:0006986Upper limb spasticity1HIKESHI CL E G H51501616881Leukodystrophy, hypomyelinating, 13616881C4225170OMIM17626938614908
HP:0001257HP:0002491Spasticity of facial muscles1HMGCL CL E G H3155246450Deficiency of hydroxymethylglutaryl-CoA lyase246450C0268601OMIM14205005613898
HP:0001257HP:0031866Clasp-knife sign1HMGCL CL E G H3155246450Deficiency of hydroxymethylglutaryl-CoA lyase246450C0268601OMIM14205005613898
HP:0001257HP:0002061Lower limb spasticity1HMGCL CL E G H3155246450Deficiency of hydroxymethylglutaryl-CoA lyase246450C0268601OMIM14205005613898
HP:0001257HP:0002179Opisthotonus1HMGCL CL E G H3155246450Deficiency of hydroxymethylglutaryl-CoA lyase246450C0268601OMIM14205005613898
HP:0001257HP:0002191Progressive spasticity1HMGCL CL E G H3155246450Deficiency of hydroxymethylglutaryl-CoA lyase246450C0268601OMIM14205005613898
HP:0001257HP:0001264Spastic diplegia1HMGCL CL E G H3155246450Deficiency of hydroxymethylglutaryl-CoA lyase246450C0268601OMIM14205005613898
HP:0001257HP:0002464Spastic dysarthria1HMGCL CL E G H3155246450Deficiency of hydroxymethylglutaryl-CoA lyase246450C0268601OMIM14205005613898
HP:0001257HP:0002064Spastic gait1HMGCL CL E G H3155246450Deficiency of hydroxymethylglutaryl-CoA lyase246450C0268601OMIM14205005613898
HP:0001257HP:0011099Spastic hemiparesis1HMGCL CL E G H3155246450Deficiency of hydroxymethylglutaryl-CoA lyase246450C0268601OMIM14205005613898
HP:0001257HP:0001285Spastic tetraparesis1HMGCL CL E G H3155246450Deficiency of hydroxymethylglutaryl-CoA lyase246450C0268601OMIM14205005613898
HP:0001257HP:0002510Spastic tetraplegia1HMGCL CL E G H3155246450Deficiency of hydroxymethylglutaryl-CoA lyase246450C0268601OMIM14205005613898
HP:0001257HP:0002501Spasticity of pharyngeal muscles1HMGCL CL E G H3155246450Deficiency of hydroxymethylglutaryl-CoA lyase246450C0268601OMIM14205005613898
HP:0001257HP:0006986Upper limb spasticity1HMGCL CL E G H3155246450Deficiency of hydroxymethylglutaryl-CoA lyase246450C0268601OMIM14205005613898
HP:0001257HP:0002491Spasticity of facial muscles1HNRNPA1 CL E G H3178803ORPHA1805031164017
HP:0001257HP:0031866Clasp-knife sign1HNRNPA1 CL E G H3178803ORPHA1805031164017
HP:0001257HP:0002061Lower limb spasticity1HNRNPA1 CL E G H3178803ORPHA1805031164017
HP:0001257HP:0002179Opisthotonus1HNRNPA1 CL E G H3178803ORPHA1805031164017
HP:0001257HP:0002191Progressive spasticity1HNRNPA1 CL E G H3178803ORPHA1805031164017
HP:0001257HP:0001264Spastic diplegia1HNRNPA1 CL E G H3178803ORPHA1805031164017
HP:0001257HP:0002464Spastic dysarthria1HNRNPA1 CL E G H3178803ORPHA1805031164017
HP:0001257HP:0002064Spastic gait1HNRNPA1 CL E G H3178803ORPHA1805031164017
HP:0001257HP:0011099Spastic hemiparesis1HNRNPA1 CL E G H3178803ORPHA1805031164017
HP:0001257HP:0001285Spastic tetraparesis1HNRNPA1 CL E G H3178803ORPHA1805031164017
HP:0001257HP:0002510Spastic tetraplegia1HNRNPA1 CL E G H3178803ORPHA1805031164017
HP:0001257HP:0002501Spasticity of pharyngeal muscles1HNRNPA1 CL E G H3178803ORPHA1805031164017
HP:0001257HP:0006986Upper limb spasticity1HNRNPA1 CL E G H3178803ORPHA1805031164017
HP:0001257HP:0002491Spasticity of facial muscles1HPRT1 CL E G H3251510ORPHA13545157308000
HP:0001257HP:0031866Clasp-knife sign1HPRT1 CL E G H3251510ORPHA13545157308000
HP:0001257HP:0002061Lower limb spasticity1HPRT1 CL E G H3251510ORPHA13545157308000
HP:0001257HP:0002179Opisthotonus1HPRT1 CL E G H3251510ORPHA13545157308000
HP:0001257HP:0002191Progressive spasticity1HPRT1 CL E G H3251510ORPHA13545157308000
HP:0001257HP:0001264Spastic diplegia1HPRT1 CL E G H3251510ORPHA13545157308000
HP:0001257HP:0002464Spastic dysarthria1HPRT1 CL E G H3251510ORPHA13545157308000
HP:0001257HP:0002064Spastic gait1HPRT1 CL E G H3251510ORPHA13545157308000
HP:0001257HP:0011099Spastic hemiparesis1HPRT1 CL E G H3251510ORPHA13545157308000
HP:0001257HP:0001285Spastic tetraparesis1HPRT1 CL E G H3251510ORPHA13545157308000
HP:0001257HP:0002510Spastic tetraplegia1HPRT1 CL E G H3251510ORPHA13545157308000
HP:0001257HP:0002501Spasticity of pharyngeal muscles1HPRT1 CL E G H3251510ORPHA13545157308000
HP:0001257HP:0006986Upper limb spasticity1HPRT1 CL E G H3251510ORPHA13545157308000
HP:0001257HP:0002491Spasticity of facial muscles1HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0001257HP:0031866Clasp-knife sign1HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0001257HP:0002061Lower limb spasticity1HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0001257HP:0002179Opisthotonus1HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0001257HP:0002191Progressive spasticity1HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0001257HP:0001264Spastic diplegia1HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0001257HP:0002464Spastic dysarthria1HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0001257HP:0002064Spastic gait1HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0001257HP:0011099Spastic hemiparesis1HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0001257HP:0001285Spastic tetraparesis1HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0001257HP:0002510Spastic tetraplegia1HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0001257HP:0002501Spasticity of pharyngeal muscles1HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0001257HP:0006986Upper limb spasticity1HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0001257HP:0002491Spasticity of facial muscles1HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM12859476602194
HP:0001257HP:0031866Clasp-knife sign1HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM12859476602194
HP:0001257HP:0002061Lower limb spasticity1HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM12859476602194
HP:0001257HP:0002179Opisthotonus1HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM12859476602194
HP:0001257HP:0002191Progressive spasticity1HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM12859476602194
HP:0001257HP:0001264Spastic diplegia1HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM12859476602194
HP:0001257HP:0002464Spastic dysarthria1HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM12859476602194
HP:0001257HP:0002064Spastic gait1HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM12859476602194
HP:0001257HP:0011099Spastic hemiparesis1HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM12859476602194
HP:0001257HP:0001285Spastic tetraparesis1HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM12859476602194
HP:0001257HP:0002510Spastic tetraplegia1HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM12859476602194
HP:0001257HP:0002501Spasticity of pharyngeal muscles1HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM12859476602194
HP:0001257HP:0006986Upper limb spasticity1HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM12859476602194
HP:0001257HP:0002491Spasticity of facial muscles1HTT CL E G H306439946,XX testicular disorder of sex developmentC2936420ORPHA17604851613004
HP:0001257HP:0031866Clasp-knife sign1HTT CL E G H306439946,XX testicular disorder of sex developmentC2936420ORPHA17604851613004
HP:0001257HP:0002061Lower limb spasticity1HTT CL E G H306439946,XX testicular disorder of sex developmentC2936420ORPHA17604851613004
HP:0001257HP:0002179Opisthotonus1HTT CL E G H306439946,XX testicular disorder of sex developmentC2936420ORPHA17604851613004
HP:0001257HP:0002191Progressive spasticity1HTT CL E G H306439946,XX testicular disorder of sex developmentC2936420ORPHA17604851613004
HP:0001257HP:0001264Spastic diplegia1HTT CL E G H306439946,XX testicular disorder of sex developmentC2936420ORPHA17604851613004
HP:0001257HP:0002464Spastic dysarthria1HTT CL E G H306439946,XX testicular disorder of sex developmentC2936420ORPHA17604851613004
HP:0001257HP:0002064Spastic gait1HTT CL E G H306439946,XX testicular disorder of sex developmentC2936420ORPHA17604851613004
HP:0001257HP:0011099Spastic hemiparesis1HTT CL E G H306439946,XX testicular disorder of sex developmentC2936420ORPHA17604851613004
HP:0001257HP:0001285Spastic tetraparesis1HTT CL E G H306439946,XX testicular disorder of sex developmentC2936420ORPHA17604851613004
HP:0001257HP:0002510Spastic tetraplegia1HTT CL E G H306439946,XX testicular disorder of sex developmentC2936420ORPHA17604851613004
HP:0001257HP:0002501Spasticity of pharyngeal muscles1HTT CL E G H306439946,XX testicular disorder of sex developmentC2936420ORPHA17604851613004
HP:0001257HP:0006986Upper limb spasticity1HTT CL E G H306439946,XX testicular disorder of sex developmentC2936420ORPHA17604851613004
HP:0001257HP:0002491Spasticity of facial muscles1HTT CL E G H3064617435Lopes-Maciel-Rodan syndrome617435C4479491OMIM17604851613004
HP:0001257HP:0031866Clasp-knife sign1HTT CL E G H3064617435Lopes-Maciel-Rodan syndrome617435C4479491OMIM17604851613004
HP:0001257HP:0002061Lower limb spasticity1HTT CL E G H3064617435Lopes-Maciel-Rodan syndrome617435C4479491OMIM17604851613004
HP:0001257HP:0002179Opisthotonus1HTT CL E G H3064617435Lopes-Maciel-Rodan syndrome617435C4479491OMIM17604851613004
HP:0001257HP:0002191Progressive spasticity1HTT CL E G H3064617435Lopes-Maciel-Rodan syndrome617435C4479491OMIM17604851613004
HP:0001257HP:0001264Spastic diplegia1HTT CL E G H3064617435Lopes-Maciel-Rodan syndrome617435C4479491OMIM17604851613004
HP:0001257HP:0002464Spastic dysarthria1HTT CL E G H3064617435Lopes-Maciel-Rodan syndrome617435C4479491OMIM17604851613004
HP:0001257HP:0002064Spastic gait1HTT CL E G H3064617435Lopes-Maciel-Rodan syndrome617435C4479491OMIM17604851613004
HP:0001257HP:0011099Spastic hemiparesis1HTT CL E G H3064617435Lopes-Maciel-Rodan syndrome617435C4479491OMIM17604851613004
HP:0001257HP:0001285Spastic tetraparesis1HTT CL E G H3064617435Lopes-Maciel-Rodan syndrome617435C4479491OMIM17604851613004
HP:0001257HP:0002510Spastic tetraplegia1HTT CL E G H3064617435Lopes-Maciel-Rodan syndrome617435C4479491OMIM17604851613004
HP:0001257HP:0002501Spasticity of pharyngeal muscles1HTT CL E G H3064617435Lopes-Maciel-Rodan syndrome617435C4479491OMIM17604851613004
HP:0001257HP:0006986Upper limb spasticity1HTT CL E G H3064617435Lopes-Maciel-Rodan syndrome617435C4479491OMIM17604851613004
HP:0001257HP:0002491Spasticity of facial muscles1IKBKG CL E G H8517308300Incontinentia pigmenti syndrome308300C0021171OMIM13875961300248
HP:0001257HP:0031866Clasp-knife sign1IKBKG CL E G H8517308300Incontinentia pigmenti syndrome308300C0021171OMIM13875961300248
HP:0001257HP:0002061Lower limb spasticity1IKBKG CL E G H8517308300Incontinentia pigmenti syndrome308300C0021171OMIM13875961300248
HP:0001257HP:0002179Opisthotonus1IKBKG CL E G H8517308300Incontinentia pigmenti syndrome308300C0021171OMIM13875961300248
HP:0001257HP:0002191Progressive spasticity1IKBKG CL E G H8517308300Incontinentia pigmenti syndrome308300C0021171OMIM13875961300248
HP:0001257HP:0001264Spastic diplegia1IKBKG CL E G H8517308300Incontinentia pigmenti syndrome308300C0021171OMIM13875961300248
HP:0001257HP:0002464Spastic dysarthria1IKBKG CL E G H8517308300Incontinentia pigmenti syndrome308300C0021171OMIM13875961300248
HP:0001257HP:0002064Spastic gait1IKBKG CL E G H8517308300Incontinentia pigmenti syndrome308300C0021171OMIM13875961300248
HP:0001257HP:0011099Spastic hemiparesis1IKBKG CL E G H8517308300Incontinentia pigmenti syndrome308300C0021171OMIM13875961300248
HP:0001257HP:0001285Spastic tetraparesis1IKBKG CL E G H8517308300Incontinentia pigmenti syndrome308300C0021171OMIM13875961300248
HP:0001257HP:0002510Spastic tetraplegia1IKBKG CL E G H8517308300Incontinentia pigmenti syndrome308300C0021171OMIM13875961300248
HP:0001257HP:0002501Spasticity of pharyngeal muscles1IKBKG CL E G H8517308300Incontinentia pigmenti syndrome308300C0021171OMIM13875961300248
HP:0001257HP:0006986Upper limb spasticity1IKBKG CL E G H8517308300Incontinentia pigmenti syndrome308300C0021171OMIM13875961300248
HP:0001257HP:0002491Spasticity of facial muscles1INPP5K CL E G H51763559ORPHA118733882607875
HP:0001257HP:0031866Clasp-knife sign1INPP5K CL E G H51763559ORPHA118733882607875
HP:0001257HP:0002061Lower limb spasticity1INPP5K CL E G H51763559ORPHA118733882607875
HP:0001257HP:0002179Opisthotonus1INPP5K CL E G H51763559ORPHA118733882607875
HP:0001257HP:0002191Progressive spasticity1INPP5K CL E G H51763559ORPHA118733882607875
HP:0001257HP:0001264Spastic diplegia1INPP5K CL E G H51763559ORPHA118733882607875
HP:0001257HP:0002464Spastic dysarthria1INPP5K CL E G H51763559ORPHA118733882607875
HP:0001257HP:0002064Spastic gait1INPP5K CL E G H51763559ORPHA118733882607875
HP:0001257HP:0011099Spastic hemiparesis1INPP5K CL E G H51763559ORPHA118733882607875
HP:0001257HP:0001285Spastic tetraparesis1INPP5K CL E G H51763559ORPHA118733882607875
HP:0001257HP:0002510Spastic tetraplegia1INPP5K CL E G H51763559ORPHA118733882607875
HP:0001257HP:0002501Spasticity of pharyngeal muscles1INPP5K CL E G H51763559ORPHA118733882607875
HP:0001257HP:0006986Upper limb spasticity1INPP5K CL E G H51763559ORPHA118733882607875
HP:0001257HP:0002491Spasticity of facial muscles1IRF2BPL CL E G H64207618088NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES618088CN252701OMIM131214282611720
HP:0001257HP:0031866Clasp-knife sign1IRF2BPL CL E G H64207618088NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES618088CN252701OMIM131214282611720
HP:0001257HP:0002061Lower limb spasticity1IRF2BPL CL E G H64207618088NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES618088CN252701OMIM131214282611720
HP:0001257HP:0002179Opisthotonus1IRF2BPL CL E G H64207618088NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES618088CN252701OMIM131214282611720
HP:0001257HP:0002191Progressive spasticity1IRF2BPL CL E G H64207618088NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES618088CN252701OMIM131214282611720
HP:0001257HP:0001264Spastic diplegia1IRF2BPL CL E G H64207618088NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES618088CN252701OMIM131214282611720
HP:0001257HP:0002464Spastic dysarthria1IRF2BPL CL E G H64207618088NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES618088CN252701OMIM131214282611720
HP:0001257HP:0002064Spastic gait1IRF2BPL CL E G H64207618088NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES618088CN252701OMIM131214282611720
HP:0001257HP:0011099Spastic hemiparesis1IRF2BPL CL E G H64207618088NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES618088CN252701OMIM131214282611720
HP:0001257HP:0001285Spastic tetraparesis1IRF2BPL CL E G H64207618088NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES618088CN252701OMIM131214282611720
HP:0001257HP:0002510Spastic tetraplegia1IRF2BPL CL E G H64207618088NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES618088CN252701OMIM131214282611720
HP:0001257HP:0002501Spasticity of pharyngeal muscles1IRF2BPL CL E G H64207618088NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES618088CN252701OMIM131214282611720
HP:0001257HP:0006986Upper limb spasticity1IRF2BPL CL E G H64207618088NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES618088CN252701OMIM131214282611720
HP:0001257HP:0002491Spasticity of facial muscles1ISCA1 CL E G H81689617613MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5617613C4539919OMIM16028660611006
HP:0001257HP:0031866Clasp-knife sign1ISCA1 CL E G H81689617613MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5617613C4539919OMIM16028660611006
HP:0001257HP:0002061Lower limb spasticity1ISCA1 CL E G H81689617613MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5617613C4539919OMIM16028660611006
HP:0001257HP:0002179Opisthotonus1ISCA1 CL E G H81689617613MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5617613C4539919OMIM16028660611006
HP:0001257HP:0002191Progressive spasticity1ISCA1 CL E G H81689617613MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5617613C4539919OMIM16028660611006
HP:0001257HP:0001264Spastic diplegia1ISCA1 CL E G H81689617613MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5617613C4539919OMIM16028660611006
HP:0001257HP:0002464Spastic dysarthria1ISCA1 CL E G H81689617613MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5617613C4539919OMIM16028660611006
HP:0001257HP:0002064Spastic gait1ISCA1 CL E G H81689617613MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5617613C4539919OMIM16028660611006
HP:0001257HP:0011099Spastic hemiparesis1ISCA1 CL E G H81689617613MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5617613C4539919OMIM16028660611006
HP:0001257HP:0001285Spastic tetraparesis1ISCA1 CL E G H81689617613MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5617613C4539919OMIM16028660611006
HP:0001257HP:0002510Spastic tetraplegia1ISCA1 CL E G H81689617613MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5617613C4539919OMIM16028660611006
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ISCA1 CL E G H81689617613MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5617613C4539919OMIM16028660611006
HP:0001257HP:0006986Upper limb spasticity1ISCA1 CL E G H81689617613MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5617613C4539919OMIM16028660611006
HP:0001257HP:0002491Spasticity of facial muscles1ISCA2 CL E G H122961616370Multiple mitochondrial dysfunctions syndrome 4616370C4225348OMIM18319857615317
HP:0001257HP:0031866Clasp-knife sign1ISCA2 CL E G H122961616370Multiple mitochondrial dysfunctions syndrome 4616370C4225348OMIM18319857615317
HP:0001257HP:0002061Lower limb spasticity1ISCA2 CL E G H122961616370Multiple mitochondrial dysfunctions syndrome 4616370C4225348OMIM18319857615317
HP:0001257HP:0002179Opisthotonus1ISCA2 CL E G H122961616370Multiple mitochondrial dysfunctions syndrome 4616370C4225348OMIM18319857615317
HP:0001257HP:0002191Progressive spasticity1ISCA2 CL E G H122961616370Multiple mitochondrial dysfunctions syndrome 4616370C4225348OMIM18319857615317
HP:0001257HP:0001264Spastic diplegia1ISCA2 CL E G H122961616370Multiple mitochondrial dysfunctions syndrome 4616370C4225348OMIM18319857615317
HP:0001257HP:0002464Spastic dysarthria1ISCA2 CL E G H122961616370Multiple mitochondrial dysfunctions syndrome 4616370C4225348OMIM18319857615317
HP:0001257HP:0002064Spastic gait1ISCA2 CL E G H122961616370Multiple mitochondrial dysfunctions syndrome 4616370C4225348OMIM18319857615317
HP:0001257HP:0011099Spastic hemiparesis1ISCA2 CL E G H122961616370Multiple mitochondrial dysfunctions syndrome 4616370C4225348OMIM18319857615317
HP:0001257HP:0001285Spastic tetraparesis1ISCA2 CL E G H122961616370Multiple mitochondrial dysfunctions syndrome 4616370C4225348OMIM18319857615317
HP:0001257HP:0002510Spastic tetraplegia1ISCA2 CL E G H122961616370Multiple mitochondrial dysfunctions syndrome 4616370C4225348OMIM18319857615317
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ISCA2 CL E G H122961616370Multiple mitochondrial dysfunctions syndrome 4616370C4225348OMIM18319857615317
HP:0001257HP:0006986Upper limb spasticity1ISCA2 CL E G H122961616370Multiple mitochondrial dysfunctions syndrome 4616370C4225348OMIM18319857615317
HP:0001257HP:0002491Spasticity of facial muscles1ITM2B CL E G H9445176500Dementia familial British176500C1867773OMIM11776174603904
HP:0001257HP:0031866Clasp-knife sign1ITM2B CL E G H9445176500Dementia familial British176500C1867773OMIM11776174603904
HP:0001257HP:0002061Lower limb spasticity1ITM2B CL E G H9445176500Dementia familial British176500C1867773OMIM11776174603904
HP:0001257HP:0002179Opisthotonus1ITM2B CL E G H9445176500Dementia familial British176500C1867773OMIM11776174603904
HP:0001257HP:0002191Progressive spasticity1ITM2B CL E G H9445176500Dementia familial British176500C1867773OMIM11776174603904
HP:0001257HP:0001264Spastic diplegia1ITM2B CL E G H9445176500Dementia familial British176500C1867773OMIM11776174603904
HP:0001257HP:0002464Spastic dysarthria1ITM2B CL E G H9445176500Dementia familial British176500C1867773OMIM11776174603904
HP:0001257HP:0002064Spastic gait1ITM2B CL E G H9445176500Dementia familial British176500C1867773OMIM11776174603904
HP:0001257HP:0011099Spastic hemiparesis1ITM2B CL E G H9445176500Dementia familial British176500C1867773OMIM11776174603904
HP:0001257HP:0001285Spastic tetraparesis1ITM2B CL E G H9445176500Dementia familial British176500C1867773OMIM11776174603904
HP:0001257HP:0002510Spastic tetraplegia1ITM2B CL E G H9445176500Dementia familial British176500C1867773OMIM11776174603904
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ITM2B CL E G H9445176500Dementia familial British176500C1867773OMIM11776174603904
HP:0001257HP:0006986Upper limb spasticity1ITM2B CL E G H9445176500Dementia familial British176500C1867773OMIM11776174603904
HP:0001257HP:0002491Spasticity of facial muscles1ITM2B CL E G H9445117300Dementia, familial Danish117300C1861735OMIM11776174603904
HP:0001257HP:0031866Clasp-knife sign1ITM2B CL E G H9445117300Dementia, familial Danish117300C1861735OMIM11776174603904
HP:0001257HP:0002061Lower limb spasticity1ITM2B CL E G H9445117300Dementia, familial Danish117300C1861735OMIM11776174603904
HP:0001257HP:0002179Opisthotonus1ITM2B CL E G H9445117300Dementia, familial Danish117300C1861735OMIM11776174603904
HP:0001257HP:0002191Progressive spasticity1ITM2B CL E G H9445117300Dementia, familial Danish117300C1861735OMIM11776174603904
HP:0001257HP:0001264Spastic diplegia1ITM2B CL E G H9445117300Dementia, familial Danish117300C1861735OMIM11776174603904
HP:0001257HP:0002464Spastic dysarthria1ITM2B CL E G H9445117300Dementia, familial Danish117300C1861735OMIM11776174603904
HP:0001257HP:0002064Spastic gait1ITM2B CL E G H9445117300Dementia, familial Danish117300C1861735OMIM11776174603904
HP:0001257HP:0011099Spastic hemiparesis1ITM2B CL E G H9445117300Dementia, familial Danish117300C1861735OMIM11776174603904
HP:0001257HP:0001285Spastic tetraparesis1ITM2B CL E G H9445117300Dementia, familial Danish117300C1861735OMIM11776174603904
HP:0001257HP:0002510Spastic tetraplegia1ITM2B CL E G H9445117300Dementia, familial Danish117300C1861735OMIM11776174603904
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ITM2B CL E G H9445117300Dementia, familial Danish117300C1861735OMIM11776174603904
HP:0001257HP:0006986Upper limb spasticity1ITM2B CL E G H9445117300Dementia, familial Danish117300C1861735OMIM11776174603904
HP:0001257HP:0002491Spasticity of facial muscles1JAM3 CL E G H83700613730Hemorrhagic destruction of the brain, subependymal calcification, and cataracts613730C3151000OMIM126515532606871
HP:0001257HP:0031866Clasp-knife sign1JAM3 CL E G H83700613730Hemorrhagic destruction of the brain, subependymal calcification, and cataracts613730C3151000OMIM126515532606871
HP:0001257HP:0002061Lower limb spasticity1JAM3 CL E G H83700613730Hemorrhagic destruction of the brain, subependymal calcification, and cataracts613730C3151000OMIM126515532606871
HP:0001257HP:0002179Opisthotonus1JAM3 CL E G H83700613730Hemorrhagic destruction of the brain, subependymal calcification, and cataracts613730C3151000OMIM126515532606871
HP:0001257HP:0002191Progressive spasticity1JAM3 CL E G H83700613730Hemorrhagic destruction of the brain, subependymal calcification, and cataracts613730C3151000OMIM126515532606871
HP:0001257HP:0001264Spastic diplegia1JAM3 CL E G H83700613730Hemorrhagic destruction of the brain, subependymal calcification, and cataracts613730C3151000OMIM126515532606871
HP:0001257HP:0002464Spastic dysarthria1JAM3 CL E G H83700613730Hemorrhagic destruction of the brain, subependymal calcification, and cataracts613730C3151000OMIM126515532606871
HP:0001257HP:0002064Spastic gait1JAM3 CL E G H83700613730Hemorrhagic destruction of the brain, subependymal calcification, and cataracts613730C3151000OMIM126515532606871
HP:0001257HP:0011099Spastic hemiparesis1JAM3 CL E G H83700613730Hemorrhagic destruction of the brain, subependymal calcification, and cataracts613730C3151000OMIM126515532606871
HP:0001257HP:0001285Spastic tetraparesis1JAM3 CL E G H83700613730Hemorrhagic destruction of the brain, subependymal calcification, and cataracts613730C3151000OMIM126515532606871
HP:0001257HP:0002510Spastic tetraplegia1JAM3 CL E G H83700613730Hemorrhagic destruction of the brain, subependymal calcification, and cataracts613730C3151000OMIM126515532606871
HP:0001257HP:0002501Spasticity of pharyngeal muscles1JAM3 CL E G H83700613730Hemorrhagic destruction of the brain, subependymal calcification, and cataracts613730C3151000OMIM126515532606871
HP:0001257HP:0006986Upper limb spasticity1JAM3 CL E G H83700613730Hemorrhagic destruction of the brain, subependymal calcification, and cataracts613730C3151000OMIM126515532606871
HP:0001257HP:0002491Spasticity of facial muscles1KCNT1 CL E G H57582614959Early infantile epileptic encephalopathy 14614959C3554195OMIM1200018865608167
HP:0001257HP:0031866Clasp-knife sign1KCNT1 CL E G H57582614959Early infantile epileptic encephalopathy 14614959C3554195OMIM1200018865608167
HP:0001257HP:0002061Lower limb spasticity1KCNT1 CL E G H57582614959Early infantile epileptic encephalopathy 14614959C3554195OMIM1200018865608167
HP:0001257HP:0002179Opisthotonus1KCNT1 CL E G H57582614959Early infantile epileptic encephalopathy 14614959C3554195OMIM1200018865608167
HP:0001257HP:0002191Progressive spasticity1KCNT1 CL E G H57582614959Early infantile epileptic encephalopathy 14614959C3554195OMIM1200018865608167
HP:0001257HP:0001264Spastic diplegia1KCNT1 CL E G H57582614959Early infantile epileptic encephalopathy 14614959C3554195OMIM1200018865608167
HP:0001257HP:0002464Spastic dysarthria1KCNT1 CL E G H57582614959Early infantile epileptic encephalopathy 14614959C3554195OMIM1200018865608167
HP:0001257HP:0002064Spastic gait1KCNT1 CL E G H57582614959Early infantile epileptic encephalopathy 14614959C3554195OMIM1200018865608167
HP:0001257HP:0011099Spastic hemiparesis1KCNT1 CL E G H57582614959Early infantile epileptic encephalopathy 14614959C3554195OMIM1200018865608167
HP:0001257HP:0001285Spastic tetraparesis1KCNT1 CL E G H57582614959Early infantile epileptic encephalopathy 14614959C3554195OMIM1200018865608167
HP:0001257HP:0002510Spastic tetraplegia1KCNT1 CL E G H57582614959Early infantile epileptic encephalopathy 14614959C3554195OMIM1200018865608167
HP:0001257HP:0002501Spasticity of pharyngeal muscles1KCNT1 CL E G H57582614959Early infantile epileptic encephalopathy 14614959C3554195OMIM1200018865608167
HP:0001257HP:0006986Upper limb spasticity1KCNT1 CL E G H57582614959Early infantile epileptic encephalopathy 14614959C3554195OMIM1200018865608167
HP:0001257HP:0002491Spasticity of facial muscles1KDM5C CL E G H824285279ORPHA175611114314690
HP:0001257HP:0031866Clasp-knife sign1KDM5C CL E G H824285279ORPHA175611114314690
HP:0001257HP:0002061Lower limb spasticity1KDM5C CL E G H824285279ORPHA175611114314690
HP:0001257HP:0002179Opisthotonus1KDM5C CL E G H824285279ORPHA175611114314690
HP:0001257HP:0002191Progressive spasticity1KDM5C CL E G H824285279ORPHA175611114314690
HP:0001257HP:0001264Spastic diplegia1KDM5C CL E G H824285279ORPHA175611114314690
HP:0001257HP:0002464Spastic dysarthria1KDM5C CL E G H824285279ORPHA175611114314690
HP:0001257HP:0002064Spastic gait1KDM5C CL E G H824285279ORPHA175611114314690
HP:0001257HP:0011099Spastic hemiparesis1KDM5C CL E G H824285279ORPHA175611114314690
HP:0001257HP:0001285Spastic tetraparesis1KDM5C CL E G H824285279ORPHA175611114314690
HP:0001257HP:0002510Spastic tetraplegia1KDM5C CL E G H824285279ORPHA175611114314690
HP:0001257HP:0002501Spasticity of pharyngeal muscles1KDM5C CL E G H824285279ORPHA175611114314690
HP:0001257HP:0006986Upper limb spasticity1KDM5C CL E G H824285279ORPHA175611114314690
HP:0001257HP:0002491Spasticity of facial muscles1KIF1C CL E G H10749397946ORPHA15796317603060
HP:0001257HP:0031866Clasp-knife sign1KIF1C CL E G H10749397946ORPHA15796317603060
HP:0001257HP:0002061Lower limb spasticity1KIF1C CL E G H10749397946ORPHA15796317603060
HP:0001257HP:0002179Opisthotonus1KIF1C CL E G H10749397946ORPHA15796317603060
HP:0001257HP:0002191Progressive spasticity1KIF1C CL E G H10749397946ORPHA15796317603060
HP:0001257HP:0001264Spastic diplegia1KIF1C CL E G H10749397946ORPHA15796317603060
HP:0001257HP:0002464Spastic dysarthria1KIF1C CL E G H10749397946ORPHA15796317603060
HP:0001257HP:0002064Spastic gait1KIF1C CL E G H10749397946ORPHA15796317603060
HP:0001257HP:0011099Spastic hemiparesis1KIF1C CL E G H10749397946ORPHA15796317603060
HP:0001257HP:0001285Spastic tetraparesis1KIF1C CL E G H10749397946ORPHA15796317603060
HP:0001257HP:0002510Spastic tetraplegia1KIF1C CL E G H10749397946ORPHA15796317603060
HP:0001257HP:0002501Spasticity of pharyngeal muscles1KIF1C CL E G H10749397946ORPHA15796317603060
HP:0001257HP:0006986Upper limb spasticity1KIF1C CL E G H10749397946ORPHA15796317603060
HP:0001257HP:0002491Spasticity of facial muscles1KIF1C CL E G H10749611302Ataxia, spastic, 2, autosomal recessive611302C1969796OMIM15796317603060
HP:0001257HP:0031866Clasp-knife sign1KIF1C CL E G H10749611302Ataxia, spastic, 2, autosomal recessive611302C1969796OMIM15796317603060
HP:0001257HP:0002061Lower limb spasticity1KIF1C CL E G H10749611302Ataxia, spastic, 2, autosomal recessive611302C1969796OMIM15796317603060
HP:0001257HP:0002179Opisthotonus1KIF1C CL E G H10749611302Ataxia, spastic, 2, autosomal recessive611302C1969796OMIM15796317603060
HP:0001257HP:0002191Progressive spasticity1KIF1C CL E G H10749611302Ataxia, spastic, 2, autosomal recessive611302C1969796OMIM15796317603060
HP:0001257HP:0001264Spastic diplegia1KIF1C CL E G H10749611302Ataxia, spastic, 2, autosomal recessive611302C1969796OMIM15796317603060
HP:0001257HP:0002464Spastic dysarthria1KIF1C CL E G H10749611302Ataxia, spastic, 2, autosomal recessive611302C1969796OMIM15796317603060
HP:0001257HP:0002064Spastic gait1KIF1C CL E G H10749611302Ataxia, spastic, 2, autosomal recessive611302C1969796OMIM15796317603060
HP:0001257HP:0011099Spastic hemiparesis1KIF1C CL E G H10749611302Ataxia, spastic, 2, autosomal recessive611302C1969796OMIM15796317603060
HP:0001257HP:0001285Spastic tetraparesis1KIF1C CL E G H10749611302Ataxia, spastic, 2, autosomal recessive611302C1969796OMIM15796317603060
HP:0001257HP:0002510Spastic tetraplegia1KIF1C CL E G H10749611302Ataxia, spastic, 2, autosomal recessive611302C1969796OMIM15796317603060
HP:0001257HP:0002501Spasticity of pharyngeal muscles1KIF1C CL E G H10749611302Ataxia, spastic, 2, autosomal recessive611302C1969796OMIM15796317603060
HP:0001257HP:0006986Upper limb spasticity1KIF1C CL E G H10749611302Ataxia, spastic, 2, autosomal recessive611302C1969796OMIM15796317603060
HP:0001257HP:0002491Spasticity of facial muscles1KRAS CL E G H38452396ORPHA14806407190070
HP:0001257HP:0031866Clasp-knife sign1KRAS CL E G H38452396ORPHA14806407190070
HP:0001257HP:0002061Lower limb spasticity1KRAS CL E G H38452396ORPHA14806407190070
HP:0001257HP:0002179Opisthotonus1KRAS CL E G H38452396ORPHA14806407190070
HP:0001257HP:0002191Progressive spasticity1KRAS CL E G H38452396ORPHA14806407190070
HP:0001257HP:0001264Spastic diplegia1KRAS CL E G H38452396ORPHA14806407190070
HP:0001257HP:0002464Spastic dysarthria1KRAS CL E G H38452396ORPHA14806407190070
HP:0001257HP:0002064Spastic gait1KRAS CL E G H38452396ORPHA14806407190070
HP:0001257HP:0011099Spastic hemiparesis1KRAS CL E G H38452396ORPHA14806407190070
HP:0001257HP:0001285Spastic tetraparesis1KRAS CL E G H38452396ORPHA14806407190070
HP:0001257HP:0002510Spastic tetraplegia1KRAS CL E G H38452396ORPHA14806407190070
HP:0001257HP:0002501Spasticity of pharyngeal muscles1KRAS CL E G H38452396ORPHA14806407190070
HP:0001257HP:0006986Upper limb spasticity1KRAS CL E G H38452396ORPHA14806407190070
HP:0001257HP:0002491Spasticity of facial muscles1L1CAM CL E G H38972182ORPHA19686470308840
HP:0001257HP:0031866Clasp-knife sign1L1CAM CL E G H38972182ORPHA19686470308840
HP:0001257HP:0002061Lower limb spasticity1L1CAM CL E G H38972182ORPHA19686470308840
HP:0001257HP:0002179Opisthotonus1L1CAM CL E G H38972182ORPHA19686470308840
HP:0001257HP:0002191Progressive spasticity1L1CAM CL E G H38972182ORPHA19686470308840
HP:0001257HP:0001264Spastic diplegia1L1CAM CL E G H38972182ORPHA19686470308840
HP:0001257HP:0002464Spastic dysarthria1L1CAM CL E G H38972182ORPHA19686470308840
HP:0001257HP:0002064Spastic gait1L1CAM CL E G H38972182ORPHA19686470308840
HP:0001257HP:0011099Spastic hemiparesis1L1CAM CL E G H38972182ORPHA19686470308840
HP:0001257HP:0001285Spastic tetraparesis1L1CAM CL E G H38972182ORPHA19686470308840
HP:0001257HP:0002510Spastic tetraplegia1L1CAM CL E G H38972182ORPHA19686470308840
HP:0001257HP:0002501Spasticity of pharyngeal muscles1L1CAM CL E G H38972182ORPHA19686470308840
HP:0001257HP:0006986Upper limb spasticity1L1CAM CL E G H38972182ORPHA19686470308840
HP:0001257HP:0002491Spasticity of facial muscles1L1CAM CL E G H38971497Congenital mixovirusORPHA19686470308840
HP:0001257HP:0031866Clasp-knife sign1L1CAM CL E G H38971497Congenital mixovirusORPHA19686470308840
HP:0001257HP:0002061Lower limb spasticity1L1CAM CL E G H38971497Congenital mixovirusORPHA19686470308840
HP:0001257HP:0002179Opisthotonus1L1CAM CL E G H38971497Congenital mixovirusORPHA19686470308840
HP:0001257HP:0002191Progressive spasticity1L1CAM CL E G H38971497Congenital mixovirusORPHA19686470308840
HP:0001257HP:0001264Spastic diplegia1L1CAM CL E G H38971497Congenital mixovirusORPHA19686470308840
HP:0001257HP:0002464Spastic dysarthria1L1CAM CL E G H38971497Congenital mixovirusORPHA19686470308840
HP:0001257HP:0002064Spastic gait1L1CAM CL E G H38971497Congenital mixovirusORPHA19686470308840
HP:0001257HP:0011099Spastic hemiparesis1L1CAM CL E G H38971497Congenital mixovirusORPHA19686470308840
HP:0001257HP:0001285Spastic tetraparesis1L1CAM CL E G H38971497Congenital mixovirusORPHA19686470308840
HP:0001257HP:0002510Spastic tetraplegia1L1CAM CL E G H38971497Congenital mixovirusORPHA19686470308840
HP:0001257HP:0002501Spasticity of pharyngeal muscles1L1CAM CL E G H38971497Congenital mixovirusORPHA19686470308840
HP:0001257HP:0006986Upper limb spasticity1L1CAM CL E G H38971497Congenital mixovirusORPHA19686470308840
HP:0001257HP:0002491Spasticity of facial muscles1L1CAM CL E G H3897304100Corpus callosum, partial agenesis of, X-linked304100C1839909OMIM19686470308840
HP:0001257HP:0031866Clasp-knife sign1L1CAM CL E G H3897304100Corpus callosum, partial agenesis of, X-linked304100C1839909OMIM19686470308840
HP:0001257HP:0002061Lower limb spasticity1L1CAM CL E G H3897304100Corpus callosum, partial agenesis of, X-linked304100C1839909OMIM19686470308840
HP:0001257HP:0002179Opisthotonus1L1CAM CL E G H3897304100Corpus callosum, partial agenesis of, X-linked304100C1839909OMIM19686470308840
HP:0001257HP:0002191Progressive spasticity1L1CAM CL E G H3897304100Corpus callosum, partial agenesis of, X-linked304100C1839909OMIM19686470308840
HP:0001257HP:0001264Spastic diplegia1L1CAM CL E G H3897304100Corpus callosum, partial agenesis of, X-linked304100C1839909OMIM19686470308840
HP:0001257HP:0002464Spastic dysarthria1L1CAM CL E G H3897304100Corpus callosum, partial agenesis of, X-linked304100C1839909OMIM19686470308840
HP:0001257HP:0002064Spastic gait1L1CAM CL E G H3897304100Corpus callosum, partial agenesis of, X-linked304100C1839909OMIM19686470308840
HP:0001257HP:0011099Spastic hemiparesis1L1CAM CL E G H3897304100Corpus callosum, partial agenesis of, X-linked304100C1839909OMIM19686470308840
HP:0001257HP:0001285Spastic tetraparesis1L1CAM CL E G H3897304100Corpus callosum, partial agenesis of, X-linked304100C1839909OMIM19686470308840
HP:0001257HP:0002510Spastic tetraplegia1L1CAM CL E G H3897304100Corpus callosum, partial agenesis of, X-linked304100C1839909OMIM19686470308840
HP:0001257HP:0002501Spasticity of pharyngeal muscles1L1CAM CL E G H3897304100Corpus callosum, partial agenesis of, X-linked304100C1839909OMIM19686470308840
HP:0001257HP:0006986Upper limb spasticity1L1CAM CL E G H3897304100Corpus callosum, partial agenesis of, X-linked304100C1839909OMIM19686470308840
HP:0001257HP:0002491Spasticity of facial muscles1L1CAM CL E G H3897307000X-linked hydrocephalus syndrome307000C0265216OMIM19686470308840
HP:0001257HP:0031866Clasp-knife sign1L1CAM CL E G H3897307000X-linked hydrocephalus syndrome307000C0265216OMIM19686470308840
HP:0001257HP:0002061Lower limb spasticity1L1CAM CL E G H3897307000X-linked hydrocephalus syndrome307000C0265216OMIM19686470308840
HP:0001257HP:0002179Opisthotonus1L1CAM CL E G H3897307000X-linked hydrocephalus syndrome307000C0265216OMIM19686470308840
HP:0001257HP:0002191Progressive spasticity1L1CAM CL E G H3897307000X-linked hydrocephalus syndrome307000C0265216OMIM19686470308840
HP:0001257HP:0001264Spastic diplegia1L1CAM CL E G H3897307000X-linked hydrocephalus syndrome307000C0265216OMIM19686470308840
HP:0001257HP:0002464Spastic dysarthria1L1CAM CL E G H3897307000X-linked hydrocephalus syndrome307000C0265216OMIM19686470308840
HP:0001257HP:0002064Spastic gait1L1CAM CL E G H3897307000X-linked hydrocephalus syndrome307000C0265216OMIM19686470308840
HP:0001257HP:0011099Spastic hemiparesis1L1CAM CL E G H3897307000X-linked hydrocephalus syndrome307000C0265216OMIM19686470308840
HP:0001257HP:0001285Spastic tetraparesis1L1CAM CL E G H3897307000X-linked hydrocephalus syndrome307000C0265216OMIM19686470308840
HP:0001257HP:0002510Spastic tetraplegia1L1CAM CL E G H3897307000X-linked hydrocephalus syndrome307000C0265216OMIM19686470308840
HP:0001257HP:0002501Spasticity of pharyngeal muscles1L1CAM CL E G H3897307000X-linked hydrocephalus syndrome307000C0265216OMIM19686470308840
HP:0001257HP:0006986Upper limb spasticity1L1CAM CL E G H3897307000X-linked hydrocephalus syndrome307000C0265216OMIM19686470308840
HP:0001257HP:0002491Spasticity of facial muscles1LAGE3 CL E G H8270301006GALLOWAY-MOWAT SYNDROME 2, X-LINKED301006C4538784OMIM127026058300060
HP:0001257HP:0031866Clasp-knife sign1LAGE3 CL E G H8270301006GALLOWAY-MOWAT SYNDROME 2, X-LINKED301006C4538784OMIM127026058300060
HP:0001257HP:0002061Lower limb spasticity1LAGE3 CL E G H8270301006GALLOWAY-MOWAT SYNDROME 2, X-LINKED301006C4538784OMIM127026058300060
HP:0001257HP:0002179Opisthotonus1LAGE3 CL E G H8270301006GALLOWAY-MOWAT SYNDROME 2, X-LINKED301006C4538784OMIM127026058300060
HP:0001257HP:0002191Progressive spasticity1LAGE3 CL E G H8270301006GALLOWAY-MOWAT SYNDROME 2, X-LINKED301006C4538784OMIM127026058300060
HP:0001257HP:0001264Spastic diplegia1LAGE3 CL E G H8270301006GALLOWAY-MOWAT SYNDROME 2, X-LINKED301006C4538784OMIM127026058300060
HP:0001257HP:0002464Spastic dysarthria1LAGE3 CL E G H8270301006GALLOWAY-MOWAT SYNDROME 2, X-LINKED301006C4538784OMIM127026058300060
HP:0001257HP:0002064Spastic gait1LAGE3 CL E G H8270301006GALLOWAY-MOWAT SYNDROME 2, X-LINKED301006C4538784OMIM127026058300060
HP:0001257HP:0011099Spastic hemiparesis1LAGE3 CL E G H8270301006GALLOWAY-MOWAT SYNDROME 2, X-LINKED301006C4538784OMIM127026058300060
HP:0001257HP:0001285Spastic tetraparesis1LAGE3 CL E G H8270301006GALLOWAY-MOWAT SYNDROME 2, X-LINKED301006C4538784OMIM127026058300060
HP:0001257HP:0002510Spastic tetraplegia1LAGE3 CL E G H8270301006GALLOWAY-MOWAT SYNDROME 2, X-LINKED301006C4538784OMIM127026058300060
HP:0001257HP:0002501Spasticity of pharyngeal muscles1LAGE3 CL E G H8270301006GALLOWAY-MOWAT SYNDROME 2, X-LINKED301006C4538784OMIM127026058300060
HP:0001257HP:0006986Upper limb spasticity1LAGE3 CL E G H8270301006GALLOWAY-MOWAT SYNDROME 2, X-LINKED301006C4538784OMIM127026058300060
HP:0001257HP:0002491Spasticity of facial muscles1LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0001257HP:0031866Clasp-knife sign1LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0001257HP:0002061Lower limb spasticity1LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0001257HP:0002179Opisthotonus1LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0001257HP:0002191Progressive spasticity1LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0001257HP:0001264Spastic diplegia1LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0001257HP:0002464Spastic dysarthria1LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0001257HP:0002064Spastic gait1LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0001257HP:0011099Spastic hemiparesis1LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0001257HP:0001285Spastic tetraparesis1LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0001257HP:0002510Spastic tetraplegia1LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0001257HP:0002501Spasticity of pharyngeal muscles1LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0001257HP:0006986Upper limb spasticity1LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0001257HP:0002491Spasticity of facial muscles1LMNB1 CL E G H400199027ORPHA12416637150340
HP:0001257HP:0031866Clasp-knife sign1LMNB1 CL E G H400199027ORPHA12416637150340
HP:0001257HP:0002061Lower limb spasticity1LMNB1 CL E G H400199027ORPHA12416637150340
HP:0001257HP:0002179Opisthotonus1LMNB1 CL E G H400199027ORPHA12416637150340
HP:0001257HP:0002191Progressive spasticity1LMNB1 CL E G H400199027ORPHA12416637150340
HP:0001257HP:0001264Spastic diplegia1LMNB1 CL E G H400199027ORPHA12416637150340
HP:0001257HP:0002464Spastic dysarthria1LMNB1 CL E G H400199027ORPHA12416637150340
HP:0001257HP:0002064Spastic gait1LMNB1 CL E G H400199027ORPHA12416637150340
HP:0001257HP:0011099Spastic hemiparesis1LMNB1 CL E G H400199027ORPHA12416637150340
HP:0001257HP:0001285Spastic tetraparesis1LMNB1 CL E G H400199027ORPHA12416637150340
HP:0001257HP:0002510Spastic tetraplegia1LMNB1 CL E G H400199027ORPHA12416637150340
HP:0001257HP:0002501Spasticity of pharyngeal muscles1LMNB1 CL E G H400199027ORPHA12416637150340
HP:0001257HP:0006986Upper limb spasticity1LMNB1 CL E G H400199027ORPHA12416637150340
HP:0001257HP:0002491Spasticity of facial muscles1LMNB1 CL E G H4001169500Leukodystrophy, adult-onset, autosomal dominant169500C1868512OMIM12416637150340
HP:0001257HP:0031866Clasp-knife sign1LMNB1 CL E G H4001169500Leukodystrophy, adult-onset, autosomal dominant169500C1868512OMIM12416637150340
HP:0001257HP:0002061Lower limb spasticity1LMNB1 CL E G H4001169500Leukodystrophy, adult-onset, autosomal dominant169500C1868512OMIM12416637150340
HP:0001257HP:0002179Opisthotonus1LMNB1 CL E G H4001169500Leukodystrophy, adult-onset, autosomal dominant169500C1868512OMIM12416637150340
HP:0001257HP:0002191Progressive spasticity1LMNB1 CL E G H4001169500Leukodystrophy, adult-onset, autosomal dominant169500C1868512OMIM12416637150340
HP:0001257HP:0001264Spastic diplegia1LMNB1 CL E G H4001169500Leukodystrophy, adult-onset, autosomal dominant169500C1868512OMIM12416637150340
HP:0001257HP:0002464Spastic dysarthria1LMNB1 CL E G H4001169500Leukodystrophy, adult-onset, autosomal dominant169500C1868512OMIM12416637150340
HP:0001257HP:0002064Spastic gait1LMNB1 CL E G H4001169500Leukodystrophy, adult-onset, autosomal dominant169500C1868512OMIM12416637150340
HP:0001257HP:0011099Spastic hemiparesis1LMNB1 CL E G H4001169500Leukodystrophy, adult-onset, autosomal dominant169500C1868512OMIM12416637150340
HP:0001257HP:0001285Spastic tetraparesis1LMNB1 CL E G H4001169500Leukodystrophy, adult-onset, autosomal dominant169500C1868512OMIM12416637150340
HP:0001257HP:0002510Spastic tetraplegia1LMNB1 CL E G H4001169500Leukodystrophy, adult-onset, autosomal dominant169500C1868512OMIM12416637150340
HP:0001257HP:0002501Spasticity of pharyngeal muscles1LMNB1 CL E G H4001169500Leukodystrophy, adult-onset, autosomal dominant169500C1868512OMIM12416637150340
HP:0001257HP:0006986Upper limb spasticity1LMNB1 CL E G H4001169500Leukodystrophy, adult-onset, autosomal dominant169500C1868512OMIM12416637150340
HP:0001257HP:0002491Spasticity of facial muscles1MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM113516826609458
HP:0001257HP:0031866Clasp-knife sign1MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM113516826609458
HP:0001257HP:0002061Lower limb spasticity1MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM113516826609458
HP:0001257HP:0002179Opisthotonus1MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM113516826609458
HP:0001257HP:0002191Progressive spasticity1MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM113516826609458
HP:0001257HP:0001264Spastic diplegia1MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM113516826609458
HP:0001257HP:0002464Spastic dysarthria1MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM113516826609458
HP:0001257HP:0002064Spastic gait1MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM113516826609458
HP:0001257HP:0011099Spastic hemiparesis1MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM113516826609458
HP:0001257HP:0001285Spastic tetraparesis1MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM113516826609458
HP:0001257HP:0002510Spastic tetraplegia1MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM113516826609458
HP:0001257HP:0002501Spasticity of pharyngeal muscles1MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM113516826609458
HP:0001257HP:0006986Upper limb spasticity1MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM113516826609458
HP:0001257HP:0002491Spasticity of facial muscles1MARS2 CL E G H92935611390Ataxia, spastic, 3, autosomal recessive611390C1969645OMIM120425133609728
HP:0001257HP:0031866Clasp-knife sign1MARS2 CL E G H92935611390Ataxia, spastic, 3, autosomal recessive611390C1969645OMIM120425133609728
HP:0001257HP:0002061Lower limb spasticity1MARS2 CL E G H92935611390Ataxia, spastic, 3, autosomal recessive611390C1969645OMIM120425133609728
HP:0001257HP:0002179Opisthotonus1MARS2 CL E G H92935611390Ataxia, spastic, 3, autosomal recessive611390C1969645OMIM120425133609728
HP:0001257HP:0002191Progressive spasticity1MARS2 CL E G H92935611390Ataxia, spastic, 3, autosomal recessive611390C1969645OMIM120425133609728
HP:0001257HP:0001264Spastic diplegia1MARS2 CL E G H92935611390Ataxia, spastic, 3, autosomal recessive611390C1969645OMIM120425133609728
HP:0001257HP:0002464Spastic dysarthria1MARS2 CL E G H92935611390Ataxia, spastic, 3, autosomal recessive611390C1969645OMIM120425133609728
HP:0001257HP:0002064Spastic gait1MARS2 CL E G H92935611390Ataxia, spastic, 3, autosomal recessive611390C1969645OMIM120425133609728
HP:0001257HP:0011099Spastic hemiparesis1MARS2 CL E G H92935611390Ataxia, spastic, 3, autosomal recessive611390C1969645OMIM120425133609728
HP:0001257HP:0001285Spastic tetraparesis1MARS2 CL E G H92935611390Ataxia, spastic, 3, autosomal recessive611390C1969645OMIM120425133609728
HP:0001257HP:0002510Spastic tetraplegia1MARS2 CL E G H92935611390Ataxia, spastic, 3, autosomal recessive611390C1969645OMIM120425133609728
HP:0001257HP:0002501Spasticity of pharyngeal muscles1MARS2 CL E G H92935611390Ataxia, spastic, 3, autosomal recessive611390C1969645OMIM120425133609728
HP:0001257HP:0006986Upper limb spasticity1MARS2 CL E G H92935611390Ataxia, spastic, 3, autosomal recessive611390C1969645OMIM120425133609728
HP:0001257HP:0002491Spasticity of facial muscles1MATR3 CL E G H9782803ORPHA14506912164015
HP:0001257HP:0031866Clasp-knife sign1MATR3 CL E G H9782803ORPHA14506912164015
HP:0001257HP:0002061Lower limb spasticity1MATR3 CL E G H9782803ORPHA14506912164015
HP:0001257HP:0002179Opisthotonus1MATR3 CL E G H9782803ORPHA14506912164015
HP:0001257HP:0002191Progressive spasticity1MATR3 CL E G H9782803ORPHA14506912164015
HP:0001257HP:0001264Spastic diplegia1MATR3 CL E G H9782803ORPHA14506912164015
HP:0001257HP:0002464Spastic dysarthria1MATR3 CL E G H9782803ORPHA14506912164015
HP:0001257HP:0002064Spastic gait1MATR3 CL E G H9782803ORPHA14506912164015
HP:0001257HP:0011099Spastic hemiparesis1MATR3 CL E G H9782803ORPHA14506912164015
HP:0001257HP:0001285Spastic tetraparesis1MATR3 CL E G H9782803ORPHA14506912164015
HP:0001257HP:0002510Spastic tetraplegia1MATR3 CL E G H9782803ORPHA14506912164015
HP:0001257HP:0002501Spasticity of pharyngeal muscles1MATR3 CL E G H9782803ORPHA14506912164015
HP:0001257HP:0006986Upper limb spasticity1MATR3 CL E G H9782803ORPHA14506912164015
HP:0001257HP:0002491Spasticity of facial muscles1MECP2 CL E G H4204778ORPHA119256990300005
HP:0001257HP:0031866Clasp-knife sign1MECP2 CL E G H4204778ORPHA119256990300005
HP:0001257HP:0002061Lower limb spasticity1MECP2 CL E G H4204778ORPHA119256990300005
HP:0001257HP:0002179Opisthotonus1MECP2 CL E G H4204778ORPHA119256990300005
HP:0001257HP:0002191Progressive spasticity1MECP2 CL E G H4204778ORPHA119256990300005
HP:0001257HP:0001264Spastic diplegia1MECP2 CL E G H4204778ORPHA119256990300005
HP:0001257HP:0002464Spastic dysarthria1MECP2 CL E G H4204778ORPHA119256990300005
HP:0001257HP:0002064Spastic gait1MECP2 CL E G H4204778ORPHA119256990300005
HP:0001257HP:0011099Spastic hemiparesis1MECP2 CL E G H4204778ORPHA119256990300005
HP:0001257HP:0001285Spastic tetraparesis1MECP2 CL E G H4204778ORPHA119256990300005
HP:0001257HP:0002510Spastic tetraplegia1MECP2 CL E G H4204778ORPHA119256990300005
HP:0001257HP:0002501Spasticity of pharyngeal muscles1MECP2 CL E G H4204778ORPHA119256990300005
HP:0001257HP:0006986Upper limb spasticity1MECP2 CL E G H4204778ORPHA119256990300005
HP:0001257HP:0002491Spasticity of facial muscles1MECP2 CL E G H42043095ORPHA119256990300005
HP:0001257HP:0031866Clasp-knife sign1MECP2 CL E G H42043095ORPHA119256990300005
HP:0001257HP:0002061Lower limb spasticity1MECP2 CL E G H42043095ORPHA119256990300005
HP:0001257HP:0002179Opisthotonus1MECP2 CL E G H42043095ORPHA119256990300005
HP:0001257HP:0002191Progressive spasticity1MECP2 CL E G H42043095ORPHA119256990300005
HP:0001257HP:0001264Spastic diplegia1MECP2 CL E G H42043095ORPHA119256990300005
HP:0001257HP:0002464Spastic dysarthria1MECP2 CL E G H42043095ORPHA119256990300005
HP:0001257HP:0002064Spastic gait1MECP2 CL E G H42043095ORPHA119256990300005
HP:0001257HP:0011099Spastic hemiparesis1MECP2 CL E G H42043095ORPHA119256990300005
HP:0001257HP:0001285Spastic tetraparesis1MECP2 CL E G H42043095ORPHA119256990300005
HP:0001257HP:0002510Spastic tetraplegia1MECP2 CL E G H42043095ORPHA119256990300005
HP:0001257HP:0002501Spasticity of pharyngeal muscles1MECP2 CL E G H42043095ORPHA119256990300005
HP:0001257HP:0006986Upper limb spasticity1MECP2 CL E G H42043095ORPHA119256990300005
HP:0001257HP:0002491Spasticity of facial muscles1MECP2 CL E G H4204312750Rett syndrome312750C0035372OMIM119256990300005
HP:0001257HP:0031866Clasp-knife sign1MECP2 CL E G H4204312750Rett syndrome312750C0035372OMIM119256990300005
HP:0001257HP:0002061Lower limb spasticity1MECP2 CL E G H4204312750Rett syndrome312750C0035372OMIM119256990300005
HP:0001257HP:0002179Opisthotonus1MECP2 CL E G H4204312750Rett syndrome312750C0035372OMIM119256990300005
HP:0001257HP:0002191Progressive spasticity1MECP2 CL E G H4204312750Rett syndrome312750C0035372OMIM119256990300005
HP:0001257HP:0001264Spastic diplegia1MECP2 CL E G H4204312750Rett syndrome312750C0035372OMIM119256990300005
HP:0001257HP:0002464Spastic dysarthria1MECP2 CL E G H4204312750Rett syndrome312750C0035372OMIM119256990300005
HP:0001257HP:0002064Spastic gait1MECP2 CL E G H4204312750Rett syndrome312750C0035372OMIM119256990300005
HP:0001257HP:0011099Spastic hemiparesis1MECP2 CL E G H4204312750Rett syndrome312750C0035372OMIM119256990300005
HP:0001257HP:0001285Spastic tetraparesis1MECP2 CL E G H4204312750Rett syndrome312750C0035372OMIM119256990300005
HP:0001257HP:0002510Spastic tetraplegia1MECP2 CL E G H4204312750Rett syndrome312750C0035372OMIM119256990300005
HP:0001257HP:0002501Spasticity of pharyngeal muscles1MECP2 CL E G H4204312750Rett syndrome312750C0035372OMIM119256990300005
HP:0001257HP:0006986Upper limb spasticity1MECP2 CL E G H4204312750Rett syndrome312750C0035372OMIM119256990300005
HP:0001257HP:0002491Spasticity of facial muscles1MED17 CL E G H9440613668Microcephaly, postnatal progressive, with seizures and brain atrophy613668C3150921OMIM14662375603810
HP:0001257HP:0031866Clasp-knife sign1MED17 CL E G H9440613668Microcephaly, postnatal progressive, with seizures and brain atrophy613668C3150921OMIM14662375603810
HP:0001257HP:0002061Lower limb spasticity1MED17 CL E G H9440613668Microcephaly, postnatal progressive, with seizures and brain atrophy613668C3150921OMIM14662375603810
HP:0001257HP:0002179Opisthotonus1MED17 CL E G H9440613668Microcephaly, postnatal progressive, with seizures and brain atrophy613668C3150921OMIM14662375603810
HP:0001257HP:0002191Progressive spasticity1MED17 CL E G H9440613668Microcephaly, postnatal progressive, with seizures and brain atrophy613668C3150921OMIM14662375603810
HP:0001257HP:0001264Spastic diplegia1MED17 CL E G H9440613668Microcephaly, postnatal progressive, with seizures and brain atrophy613668C3150921OMIM14662375603810
HP:0001257HP:0002464Spastic dysarthria1MED17 CL E G H9440613668Microcephaly, postnatal progressive, with seizures and brain atrophy613668C3150921OMIM14662375603810
HP:0001257HP:0002064Spastic gait1MED17 CL E G H9440613668Microcephaly, postnatal progressive, with seizures and brain atrophy613668C3150921OMIM14662375603810
HP:0001257HP:0011099Spastic hemiparesis1MED17 CL E G H9440613668Microcephaly, postnatal progressive, with seizures and brain atrophy613668C3150921OMIM14662375603810
HP:0001257HP:0001285Spastic tetraparesis1MED17 CL E G H9440613668Microcephaly, postnatal progressive, with seizures and brain atrophy613668C3150921OMIM14662375603810
HP:0001257HP:0002510Spastic tetraplegia1MED17 CL E G H9440613668Microcephaly, postnatal progressive, with seizures and brain atrophy613668C3150921OMIM14662375603810
HP:0001257HP:0002501Spasticity of pharyngeal muscles1MED17 CL E G H9440613668Microcephaly, postnatal progressive, with seizures and brain atrophy613668C3150921OMIM14662375603810
HP:0001257HP:0006986Upper limb spasticity1MED17 CL E G H9440613668Microcephaly, postnatal progressive, with seizures and brain atrophy613668C3150921OMIM14662375603810
HP:0001257HP:0002491Spasticity of facial muscles1MED25 CL E G H81857616449Basel-Vanagaite-Smirin-Yosef syndrome616449C4225323OMIM166628845610197
HP:0001257HP:0031866Clasp-knife sign1MED25 CL E G H81857616449Basel-Vanagaite-Smirin-Yosef syndrome616449C4225323OMIM166628845610197
HP:0001257HP:0002061Lower limb spasticity1MED25 CL E G H81857616449Basel-Vanagaite-Smirin-Yosef syndrome616449C4225323OMIM166628845610197
HP:0001257HP:0002179Opisthotonus1MED25 CL E G H81857616449Basel-Vanagaite-Smirin-Yosef syndrome616449C4225323OMIM166628845610197
HP:0001257HP:0002191Progressive spasticity1MED25 CL E G H81857616449Basel-Vanagaite-Smirin-Yosef syndrome616449C4225323OMIM166628845610197
HP:0001257HP:0001264Spastic diplegia1MED25 CL E G H81857616449Basel-Vanagaite-Smirin-Yosef syndrome616449C4225323OMIM166628845610197
HP:0001257HP:0002464Spastic dysarthria1MED25 CL E G H81857616449Basel-Vanagaite-Smirin-Yosef syndrome616449C4225323OMIM166628845610197
HP:0001257HP:0002064Spastic gait1MED25 CL E G H81857616449Basel-Vanagaite-Smirin-Yosef syndrome616449C4225323OMIM166628845610197
HP:0001257HP:0011099Spastic hemiparesis1MED25 CL E G H81857616449Basel-Vanagaite-Smirin-Yosef syndrome616449C4225323OMIM166628845610197
HP:0001257HP:0001285Spastic tetraparesis1MED25 CL E G H81857616449Basel-Vanagaite-Smirin-Yosef syndrome616449C4225323OMIM166628845610197
HP:0001257HP:0002510Spastic tetraplegia1MED25 CL E G H81857616449Basel-Vanagaite-Smirin-Yosef syndrome616449C4225323OMIM166628845610197
HP:0001257HP:0002501Spasticity of pharyngeal muscles1MED25 CL E G H81857616449Basel-Vanagaite-Smirin-Yosef syndrome616449C4225323OMIM166628845610197
HP:0001257HP:0006986Upper limb spasticity1MED25 CL E G H81857616449Basel-Vanagaite-Smirin-Yosef syndrome616449C4225323OMIM166628845610197
HP:0001257HP:0002491Spasticity of facial muscles1MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM115524858614785
HP:0001257HP:0031866Clasp-knife sign1MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM115524858614785
HP:0001257HP:0002061Lower limb spasticity1MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM115524858614785
HP:0001257HP:0002179Opisthotonus1MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM115524858614785
HP:0001257HP:0002191Progressive spasticity1MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM115524858614785
HP:0001257HP:0001264Spastic diplegia1MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM115524858614785
HP:0001257HP:0002464Spastic dysarthria1MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM115524858614785
HP:0001257HP:0002064Spastic gait1MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM115524858614785
HP:0001257HP:0011099Spastic hemiparesis1MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM115524858614785
HP:0001257HP:0001285Spastic tetraparesis1MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM115524858614785
HP:0001257HP:0002510Spastic tetraplegia1MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM115524858614785
HP:0001257HP:0002501Spasticity of pharyngeal muscles1MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM115524858614785
HP:0001257HP:0006986Upper limb spasticity1MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM115524858614785
HP:0001257HP:0002491Spasticity of facial muscles1MLC1 CL E G H23209604004Megalencephalic leukoencephalopathy with subcortical cysts 1604004C1858854OMIM167717082605908
HP:0001257HP:0031866Clasp-knife sign1MLC1 CL E G H23209604004Megalencephalic leukoencephalopathy with subcortical cysts 1604004C1858854OMIM167717082605908
HP:0001257HP:0002061Lower limb spasticity1MLC1 CL E G H23209604004Megalencephalic leukoencephalopathy with subcortical cysts 1604004C1858854OMIM167717082605908
HP:0001257HP:0002179Opisthotonus1MLC1 CL E G H23209604004Megalencephalic leukoencephalopathy with subcortical cysts 1604004C1858854OMIM167717082605908
HP:0001257HP:0002191Progressive spasticity1MLC1 CL E G H23209604004Megalencephalic leukoencephalopathy with subcortical cysts 1604004C1858854OMIM167717082605908
HP:0001257HP:0001264Spastic diplegia1MLC1 CL E G H23209604004Megalencephalic leukoencephalopathy with subcortical cysts 1604004C1858854OMIM167717082605908
HP:0001257HP:0002464Spastic dysarthria1MLC1 CL E G H23209604004Megalencephalic leukoencephalopathy with subcortical cysts 1604004C1858854OMIM167717082605908
HP:0001257HP:0002064Spastic gait1MLC1 CL E G H23209604004Megalencephalic leukoencephalopathy with subcortical cysts 1604004C1858854OMIM167717082605908
HP:0001257HP:0011099Spastic hemiparesis1MLC1 CL E G H23209604004Megalencephalic leukoencephalopathy with subcortical cysts 1604004C1858854OMIM167717082605908
HP:0001257HP:0001285Spastic tetraparesis1MLC1 CL E G H23209604004Megalencephalic leukoencephalopathy with subcortical cysts 1604004C1858854OMIM167717082605908
HP:0001257HP:0002510Spastic tetraplegia1MLC1 CL E G H23209604004Megalencephalic leukoencephalopathy with subcortical cysts 1604004C1858854OMIM167717082605908
HP:0001257HP:0002501Spasticity of pharyngeal muscles1MLC1 CL E G H23209604004Megalencephalic leukoencephalopathy with subcortical cysts 1604004C1858854OMIM167717082605908
HP:0001257HP:0006986Upper limb spasticity1MLC1 CL E G H23209604004Megalencephalic leukoencephalopathy with subcortical cysts 1604004C1858854OMIM167717082605908
HP:0001257HP:0002491Spasticity of facial muscles1MRPS34 CL E G H65993617664COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32617664C4540029OMIM113816618611994
HP:0001257HP:0031866Clasp-knife sign1MRPS34 CL E G H65993617664COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32617664C4540029OMIM113816618611994
HP:0001257HP:0002061Lower limb spasticity1MRPS34 CL E G H65993617664COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32617664C4540029OMIM113816618611994
HP:0001257HP:0002179Opisthotonus1MRPS34 CL E G H65993617664COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32617664C4540029OMIM113816618611994
HP:0001257HP:0002191Progressive spasticity1MRPS34 CL E G H65993617664COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32617664C4540029OMIM113816618611994
HP:0001257HP:0001264Spastic diplegia1MRPS34 CL E G H65993617664COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32617664C4540029OMIM113816618611994
HP:0001257HP:0002464Spastic dysarthria1MRPS34 CL E G H65993617664COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32617664C4540029OMIM113816618611994
HP:0001257HP:0002064Spastic gait1MRPS34 CL E G H65993617664COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32617664C4540029OMIM113816618611994
HP:0001257HP:0011099Spastic hemiparesis1MRPS34 CL E G H65993617664COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32617664C4540029OMIM113816618611994
HP:0001257HP:0001285Spastic tetraparesis1MRPS34 CL E G H65993617664COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32617664C4540029OMIM113816618611994
HP:0001257HP:0002510Spastic tetraplegia1MRPS34 CL E G H65993617664COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32617664C4540029OMIM113816618611994
HP:0001257HP:0002501Spasticity of pharyngeal muscles1MRPS34 CL E G H65993617664COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32617664C4540029OMIM113816618611994
HP:0001257HP:0006986Upper limb spasticity1MRPS34 CL E G H65993617664COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32617664C4540029OMIM113816618611994
HP:0001257HP:0002491Spasticity of facial muscles1MT-TF CL E G H4558545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17481590070
HP:0001257HP:0031866Clasp-knife sign1MT-TF CL E G H4558545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17481590070
HP:0001257HP:0002061Lower limb spasticity1MT-TF CL E G H4558545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17481590070
HP:0001257HP:0002179Opisthotonus1MT-TF CL E G H4558545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17481590070
HP:0001257HP:0002191Progressive spasticity1MT-TF CL E G H4558545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17481590070
HP:0001257HP:0001264Spastic diplegia1MT-TF CL E G H4558545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17481590070
HP:0001257HP:0002464Spastic dysarthria1MT-TF CL E G H4558545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17481590070
HP:0001257HP:0002064Spastic gait1MT-TF CL E G H4558545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17481590070
HP:0001257HP:0011099Spastic hemiparesis1MT-TF CL E G H4558545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17481590070
HP:0001257HP:0001285Spastic tetraparesis1MT-TF CL E G H4558545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17481590070
HP:0001257HP:0002510Spastic tetraplegia1MT-TF CL E G H4558545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17481590070
HP:0001257HP:0002501Spasticity of pharyngeal muscles1MT-TF CL E G H4558545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17481590070
HP:0001257HP:0006986Upper limb spasticity1MT-TF CL E G H4558545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17481590070
HP:0001257HP:0002491Spasticity of facial muscles1MT-TI CL E G H4565545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17488590045
HP:0001257HP:0031866Clasp-knife sign1MT-TI CL E G H4565545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17488590045
HP:0001257HP:0002061Lower limb spasticity1MT-TI CL E G H4565545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17488590045
HP:0001257HP:0002179Opisthotonus1MT-TI CL E G H4565545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17488590045
HP:0001257HP:0002191Progressive spasticity1MT-TI CL E G H4565545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17488590045
HP:0001257HP:0001264Spastic diplegia1MT-TI CL E G H4565545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17488590045
HP:0001257HP:0002464Spastic dysarthria1MT-TI CL E G H4565545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17488590045
HP:0001257HP:0002064Spastic gait1MT-TI CL E G H4565545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17488590045
HP:0001257HP:0011099Spastic hemiparesis1MT-TI CL E G H4565545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17488590045
HP:0001257HP:0001285Spastic tetraparesis1MT-TI CL E G H4565545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17488590045
HP:0001257HP:0002510Spastic tetraplegia1MT-TI CL E G H4565545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17488590045
HP:0001257HP:0002501Spasticity of pharyngeal muscles1MT-TI CL E G H4565545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17488590045
HP:0001257HP:0006986Upper limb spasticity1MT-TI CL E G H4565545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17488590045
HP:0001257HP:0002491Spasticity of facial muscles1MT-TK CL E G H4566545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17489590060
HP:0001257HP:0031866Clasp-knife sign1MT-TK CL E G H4566545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17489590060
HP:0001257HP:0002061Lower limb spasticity1MT-TK CL E G H4566545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17489590060
HP:0001257HP:0002179Opisthotonus1MT-TK CL E G H4566545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17489590060
HP:0001257HP:0002191Progressive spasticity1MT-TK CL E G H4566545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17489590060
HP:0001257HP:0001264Spastic diplegia1MT-TK CL E G H4566545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17489590060
HP:0001257HP:0002464Spastic dysarthria1MT-TK CL E G H4566545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17489590060
HP:0001257HP:0002064Spastic gait1MT-TK CL E G H4566545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17489590060
HP:0001257HP:0011099Spastic hemiparesis1MT-TK CL E G H4566545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17489590060
HP:0001257HP:0001285Spastic tetraparesis1MT-TK CL E G H4566545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17489590060
HP:0001257HP:0002510Spastic tetraplegia1MT-TK CL E G H4566545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17489590060
HP:0001257HP:0002501Spasticity of pharyngeal muscles1MT-TK CL E G H4566545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17489590060
HP:0001257HP:0006986Upper limb spasticity1MT-TK CL E G H4566545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17489590060
HP:0001257HP:0002491Spasticity of facial muscles1MT-TL1 CL E G H4567545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17490590050
HP:0001257HP:0031866Clasp-knife sign1MT-TL1 CL E G H4567545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17490590050
HP:0001257HP:0002061Lower limb spasticity1MT-TL1 CL E G H4567545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17490590050
HP:0001257HP:0002179Opisthotonus1MT-TL1 CL E G H4567545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17490590050
HP:0001257HP:0002191Progressive spasticity1MT-TL1 CL E G H4567545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17490590050
HP:0001257HP:0001264Spastic diplegia1MT-TL1 CL E G H4567545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17490590050
HP:0001257HP:0002464Spastic dysarthria1MT-TL1 CL E G H4567545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17490590050
HP:0001257HP:0002064Spastic gait1MT-TL1 CL E G H4567545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17490590050
HP:0001257HP:0011099Spastic hemiparesis1MT-TL1 CL E G H4567545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17490590050
HP:0001257HP:0001285Spastic tetraparesis1MT-TL1 CL E G H4567545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17490590050
HP:0001257HP:0002510Spastic tetraplegia1MT-TL1 CL E G H4567545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17490590050
HP:0001257HP:0002501Spasticity of pharyngeal muscles1MT-TL1 CL E G H4567545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17490590050
HP:0001257HP:0006986Upper limb spasticity1MT-TL1 CL E G H4567545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17490590050
HP:0001257HP:0002491Spasticity of facial muscles1MT-TP CL E G H4571545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17494590075
HP:0001257HP:0031866Clasp-knife sign1MT-TP CL E G H4571545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17494590075
HP:0001257HP:0002061Lower limb spasticity1MT-TP CL E G H4571545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17494590075
HP:0001257HP:0002179Opisthotonus1MT-TP CL E G H4571545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17494590075
HP:0001257HP:0002191Progressive spasticity1MT-TP CL E G H4571545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17494590075
HP:0001257HP:0001264Spastic diplegia1MT-TP CL E G H4571545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17494590075
HP:0001257HP:0002464Spastic dysarthria1MT-TP CL E G H4571545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17494590075
HP:0001257HP:0002064Spastic gait1MT-TP CL E G H4571545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17494590075
HP:0001257HP:0011099Spastic hemiparesis1MT-TP CL E G H4571545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17494590075
HP:0001257HP:0001285Spastic tetraparesis1MT-TP CL E G H4571545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17494590075
HP:0001257HP:0002510Spastic tetraplegia1MT-TP CL E G H4571545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17494590075
HP:0001257HP:0002501Spasticity of pharyngeal muscles1MT-TP CL E G H4571545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17494590075
HP:0001257HP:0006986Upper limb spasticity1MT-TP CL E G H4571545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17494590075
HP:0001257HP:0002491Spasticity of facial muscles1MTFMT CL E G H123263618248MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27618248OMIM124329666611766
HP:0001257HP:0031866Clasp-knife sign1MTFMT CL E G H123263618248MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27618248OMIM124329666611766
HP:0001257HP:0002061Lower limb spasticity1MTFMT CL E G H123263618248MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27618248OMIM124329666611766
HP:0001257HP:0002179Opisthotonus1MTFMT CL E G H123263618248MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27618248OMIM124329666611766
HP:0001257HP:0002191Progressive spasticity1MTFMT CL E G H123263618248MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27618248OMIM124329666611766
HP:0001257HP:0001264Spastic diplegia1MTFMT CL E G H123263618248MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27618248OMIM124329666611766
HP:0001257HP:0002464Spastic dysarthria1MTFMT CL E G H123263618248MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27618248OMIM124329666611766
HP:0001257HP:0002064Spastic gait1MTFMT CL E G H123263618248MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27618248OMIM124329666611766
HP:0001257HP:0011099Spastic hemiparesis1MTFMT CL E G H123263618248MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27618248OMIM124329666611766
HP:0001257HP:0001285Spastic tetraparesis1MTFMT CL E G H123263618248MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27618248OMIM124329666611766
HP:0001257HP:0002510Spastic tetraplegia1MTFMT CL E G H123263618248MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27618248OMIM124329666611766
HP:0001257HP:0002501Spasticity of pharyngeal muscles1MTFMT CL E G H123263618248MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27618248OMIM124329666611766
HP:0001257HP:0006986Upper limb spasticity1MTFMT CL E G H123263618248MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27618248OMIM124329666611766
HP:0001257HP:0002491Spasticity of facial muscles1NACC1 CL E G H112939617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination617393C4479333OMIM134120967610672
HP:0001257HP:0031866Clasp-knife sign1NACC1 CL E G H112939617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination617393C4479333OMIM134120967610672
HP:0001257HP:0002061Lower limb spasticity1NACC1 CL E G H112939617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination617393C4479333OMIM134120967610672
HP:0001257HP:0002179Opisthotonus1NACC1 CL E G H112939617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination617393C4479333OMIM134120967610672
HP:0001257HP:0002191Progressive spasticity1NACC1 CL E G H112939617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination617393C4479333OMIM134120967610672
HP:0001257HP:0001264Spastic diplegia1NACC1 CL E G H112939617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination617393C4479333OMIM134120967610672
HP:0001257HP:0002464Spastic dysarthria1NACC1 CL E G H112939617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination617393C4479333OMIM134120967610672
HP:0001257HP:0002064Spastic gait1NACC1 CL E G H112939617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination617393C4479333OMIM134120967610672
HP:0001257HP:0011099Spastic hemiparesis1NACC1 CL E G H112939617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination617393C4479333OMIM134120967610672
HP:0001257HP:0001285Spastic tetraparesis1NACC1 CL E G H112939617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination617393C4479333OMIM134120967610672
HP:0001257HP:0002510Spastic tetraplegia1NACC1 CL E G H112939617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination617393C4479333OMIM134120967610672
HP:0001257HP:0002501Spasticity of pharyngeal muscles1NACC1 CL E G H112939617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination617393C4479333OMIM134120967610672
HP:0001257HP:0006986Upper limb spasticity1NACC1 CL E G H112939617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination617393C4479333OMIM134120967610672
HP:0001257HP:0002491Spasticity of facial muscles1NADK2 CL E G H1336866160342,4-Dienoyl-CoA reductase deficiency616034C1857252OMIM122126404615787
HP:0001257HP:0031866Clasp-knife sign1NADK2 CL E G H1336866160342,4-Dienoyl-CoA reductase deficiency616034C1857252OMIM122126404615787
HP:0001257HP:0002061Lower limb spasticity1NADK2 CL E G H1336866160342,4-Dienoyl-CoA reductase deficiency616034C1857252OMIM122126404615787
HP:0001257HP:0002179Opisthotonus1NADK2 CL E G H1336866160342,4-Dienoyl-CoA reductase deficiency616034C1857252OMIM122126404615787
HP:0001257HP:0002191Progressive spasticity1NADK2 CL E G H1336866160342,4-Dienoyl-CoA reductase deficiency616034C1857252OMIM122126404615787
HP:0001257HP:0001264Spastic diplegia1NADK2 CL E G H1336866160342,4-Dienoyl-CoA reductase deficiency616034C1857252OMIM122126404615787
HP:0001257HP:0002464Spastic dysarthria1NADK2 CL E G H1336866160342,4-Dienoyl-CoA reductase deficiency616034C1857252OMIM122126404615787
HP:0001257HP:0002064Spastic gait1NADK2 CL E G H1336866160342,4-Dienoyl-CoA reductase deficiency616034C1857252OMIM122126404615787
HP:0001257HP:0011099Spastic hemiparesis1NADK2 CL E G H1336866160342,4-Dienoyl-CoA reductase deficiency616034C1857252OMIM122126404615787
HP:0001257HP:0001285Spastic tetraparesis1NADK2 CL E G H1336866160342,4-Dienoyl-CoA reductase deficiency616034C1857252OMIM122126404615787
HP:0001257HP:0002510Spastic tetraplegia1NADK2 CL E G H1336866160342,4-Dienoyl-CoA reductase deficiency616034C1857252OMIM122126404615787
HP:0001257HP:0002501Spasticity of pharyngeal muscles1NADK2 CL E G H1336866160342,4-Dienoyl-CoA reductase deficiency616034C1857252OMIM122126404615787
HP:0001257HP:0006986Upper limb spasticity1NADK2 CL E G H1336866160342,4-Dienoyl-CoA reductase deficiency616034C1857252OMIM122126404615787
HP:0001257HP:0002491Spasticity of facial muscles1NAGA CL E G H466879279ORPHA12307631104170
HP:0001257HP:0031866Clasp-knife sign1NAGA CL E G H466879279ORPHA12307631104170
HP:0001257HP:0002061Lower limb spasticity1NAGA CL E G H466879279ORPHA12307631104170
HP:0001257HP:0002179Opisthotonus1NAGA CL E G H466879279ORPHA12307631104170
HP:0001257HP:0002191Progressive spasticity1NAGA CL E G H466879279ORPHA12307631104170
HP:0001257HP:0001264Spastic diplegia1NAGA CL E G H466879279ORPHA12307631104170
HP:0001257HP:0002464Spastic dysarthria1NAGA CL E G H466879279ORPHA12307631104170
HP:0001257HP:0002064Spastic gait1NAGA CL E G H466879279ORPHA12307631104170
HP:0001257HP:0011099Spastic hemiparesis1NAGA CL E G H466879279ORPHA12307631104170
HP:0001257HP:0001285Spastic tetraparesis1NAGA CL E G H466879279ORPHA12307631104170
HP:0001257HP:0002510Spastic tetraplegia1NAGA CL E G H466879279ORPHA12307631104170
HP:0001257HP:0002501Spasticity of pharyngeal muscles1NAGA CL E G H466879279ORPHA12307631104170
HP:0001257HP:0006986Upper limb spasticity1NAGA CL E G H466879279ORPHA12307631104170
HP:0001257HP:0002491Spasticity of facial muscles1NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM12307631104170
HP:0001257HP:0031866Clasp-knife sign1NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM12307631104170
HP:0001257HP:0002061Lower limb spasticity1NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM12307631104170
HP:0001257HP:0002179Opisthotonus1NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM12307631104170
HP:0001257HP:0002191Progressive spasticity1NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM12307631104170
HP:0001257HP:0001264Spastic diplegia1NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM12307631104170
HP:0001257HP:0002464Spastic dysarthria1NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM12307631104170
HP:0001257HP:0002064Spastic gait1NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM12307631104170
HP:0001257HP:0011099Spastic hemiparesis1NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM12307631104170
HP:0001257HP:0001285Spastic tetraparesis1NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM12307631104170
HP:0001257HP:0002510Spastic tetraplegia1NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM12307631104170
HP:0001257HP:0002501Spasticity of pharyngeal muscles1NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM12307631104170
HP:0001257HP:0006986Upper limb spasticity1NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM12307631104170
HP:0001257HP:0002491Spasticity of facial muscles1NARS2 CL E G H79731616239Combined oxidative phosphorylation deficiency 24616239C4015643OMIM130226274612803
HP:0001257HP:0031866Clasp-knife sign1NARS2 CL E G H79731616239Combined oxidative phosphorylation deficiency 24616239C4015643OMIM130226274612803
HP:0001257HP:0002061Lower limb spasticity1NARS2 CL E G H79731616239Combined oxidative phosphorylation deficiency 24616239C4015643OMIM130226274612803
HP:0001257HP:0002179Opisthotonus1NARS2 CL E G H79731616239Combined oxidative phosphorylation deficiency 24616239C4015643OMIM130226274612803
HP:0001257HP:0002191Progressive spasticity1NARS2 CL E G H79731616239Combined oxidative phosphorylation deficiency 24616239C4015643OMIM130226274612803
HP:0001257HP:0001264Spastic diplegia1NARS2 CL E G H79731616239Combined oxidative phosphorylation deficiency 24616239C4015643OMIM130226274612803
HP:0001257HP:0002464Spastic dysarthria1NARS2 CL E G H79731616239Combined oxidative phosphorylation deficiency 24616239C4015643OMIM130226274612803
HP:0001257HP:0002064Spastic gait1NARS2 CL E G H79731616239Combined oxidative phosphorylation deficiency 24616239C4015643OMIM130226274612803
HP:0001257HP:0011099Spastic hemiparesis1NARS2 CL E G H79731616239Combined oxidative phosphorylation deficiency 24616239C4015643OMIM130226274612803
HP:0001257HP:0001285Spastic tetraparesis1NARS2 CL E G H79731616239Combined oxidative phosphorylation deficiency 24616239C4015643OMIM130226274612803
HP:0001257HP:0002510Spastic tetraplegia1NARS2 CL E G H79731616239Combined oxidative phosphorylation deficiency 24616239C4015643OMIM130226274612803
HP:0001257HP:0002501Spasticity of pharyngeal muscles1NARS2 CL E G H79731616239Combined oxidative phosphorylation deficiency 24616239C4015643OMIM130226274612803
HP:0001257HP:0006986Upper limb spasticity1NARS2 CL E G H79731616239Combined oxidative phosphorylation deficiency 24616239C4015643OMIM130226274612803
HP:0001257HP:0002491Spasticity of facial muscles1NDUFA6 CL E G H4700618253MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33618253OMIM1907690602138
HP:0001257HP:0031866Clasp-knife sign1NDUFA6 CL E G H4700618253MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33618253OMIM1907690602138
HP:0001257HP:0002061Lower limb spasticity1NDUFA6 CL E G H4700618253MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33618253OMIM1907690602138
HP:0001257HP:0002179Opisthotonus1NDUFA6 CL E G H4700618253MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33618253OMIM1907690602138
HP:0001257HP:0002191Progressive spasticity1NDUFA6 CL E G H4700618253MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33618253OMIM1907690602138
HP:0001257HP:0001264Spastic diplegia1NDUFA6 CL E G H4700618253MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33618253OMIM1907690602138
HP:0001257HP:0002464Spastic dysarthria1NDUFA6 CL E G H4700618253MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33618253OMIM1907690602138
HP:0001257HP:0002064Spastic gait1NDUFA6 CL E G H4700618253MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33618253OMIM1907690602138
HP:0001257HP:0011099Spastic hemiparesis1NDUFA6 CL E G H4700618253MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33618253OMIM1907690602138
HP:0001257HP:0001285Spastic tetraparesis1NDUFA6 CL E G H4700618253MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33618253OMIM1907690602138
HP:0001257HP:0002510Spastic tetraplegia1NDUFA6 CL E G H4700618253MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33618253OMIM1907690602138
HP:0001257HP:0002501Spasticity of pharyngeal muscles1NDUFA6 CL E G H4700618253MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33618253OMIM1907690602138
HP:0001257HP:0006986Upper limb spasticity1NDUFA6 CL E G H4700618253MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33618253OMIM1907690602138
HP:0001257HP:0002491Spasticity of facial muscles1NDUFAF5 CL E G H79133618238MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16618238OMIM138315899612360
HP:0001257HP:0031866Clasp-knife sign1NDUFAF5 CL E G H79133618238MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16618238OMIM138315899612360
HP:0001257HP:0002061Lower limb spasticity1NDUFAF5 CL E G H79133618238MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16618238OMIM138315899612360
HP:0001257HP:0002179Opisthotonus1NDUFAF5 CL E G H79133618238MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16618238OMIM138315899612360
HP:0001257HP:0002191Progressive spasticity1NDUFAF5 CL E G H79133618238MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16618238OMIM138315899612360
HP:0001257HP:0001264Spastic diplegia1NDUFAF5 CL E G H79133618238MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16618238OMIM138315899612360
HP:0001257HP:0002464Spastic dysarthria1NDUFAF5 CL E G H79133618238MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16618238OMIM138315899612360
HP:0001257HP:0002064Spastic gait1NDUFAF5 CL E G H79133618238MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16618238OMIM138315899612360
HP:0001257HP:0011099Spastic hemiparesis1NDUFAF5 CL E G H79133618238MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16618238OMIM138315899612360
HP:0001257HP:0001285Spastic tetraparesis1NDUFAF5 CL E G H79133618238MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16618238OMIM138315899612360
HP:0001257HP:0002510Spastic tetraplegia1NDUFAF5 CL E G H79133618238MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16618238OMIM138315899612360
HP:0001257HP:0002501Spasticity of pharyngeal muscles1NDUFAF5 CL E G H79133618238MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16618238OMIM138315899612360
HP:0001257HP:0006986Upper limb spasticity1NDUFAF5 CL E G H79133618238MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16618238OMIM138315899612360
HP:0001257HP:0002491Spasticity of facial muscles1NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0001257HP:0031866Clasp-knife sign1NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0001257HP:0002061Lower limb spasticity1NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0001257HP:0002179Opisthotonus1NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0001257HP:0002191Progressive spasticity1NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0001257HP:0001264Spastic diplegia1NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0001257HP:0002464Spastic dysarthria1NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0001257HP:0002064Spastic gait1NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0001257HP:0011099Spastic hemiparesis1NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0001257HP:0001285Spastic tetraparesis1NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0001257HP:0002510Spastic tetraplegia1NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0001257HP:0002501Spasticity of pharyngeal muscles1NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0001257HP:0006986Upper limb spasticity1NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0001257HP:0002491Spasticity of facial muscles1NDUFV2 CL E G H4729618229MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7618229OMIM12297717600532
HP:0001257HP:0031866Clasp-knife sign1NDUFV2 CL E G H4729618229MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7618229OMIM12297717600532
HP:0001257HP:0002061Lower limb spasticity1NDUFV2 CL E G H4729618229MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7618229OMIM12297717600532
HP:0001257HP:0002179Opisthotonus1NDUFV2 CL E G H4729618229MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7618229OMIM12297717600532
HP:0001257HP:0002191Progressive spasticity1NDUFV2 CL E G H4729618229MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7618229OMIM12297717600532
HP:0001257HP:0001264Spastic diplegia1NDUFV2 CL E G H4729618229MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7618229OMIM12297717600532
HP:0001257HP:0002464Spastic dysarthria1NDUFV2 CL E G H4729618229MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7618229OMIM12297717600532
HP:0001257HP:0002064Spastic gait1NDUFV2 CL E G H4729618229MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7618229OMIM12297717600532
HP:0001257HP:0011099Spastic hemiparesis1NDUFV2 CL E G H4729618229MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7618229OMIM12297717600532
HP:0001257HP:0001285Spastic tetraparesis1NDUFV2 CL E G H4729618229MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7618229OMIM12297717600532
HP:0001257HP:0002510Spastic tetraplegia1NDUFV2 CL E G H4729618229MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7618229OMIM12297717600532
HP:0001257HP:0002501Spasticity of pharyngeal muscles1NDUFV2 CL E G H4729618229MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7618229OMIM12297717600532
HP:0001257HP:0006986Upper limb spasticity1NDUFV2 CL E G H4729618229MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7618229OMIM12297717600532
HP:0001257HP:0002491Spasticity of facial muscles1NEFH CL E G H4744803ORPHA17147737162230
HP:0001257HP:0031866Clasp-knife sign1NEFH CL E G H4744803ORPHA17147737162230
HP:0001257HP:0002061Lower limb spasticity1NEFH CL E G H4744803ORPHA17147737162230
HP:0001257HP:0002179Opisthotonus1NEFH CL E G H4744803ORPHA17147737162230
HP:0001257HP:0002191Progressive spasticity1NEFH CL E G H4744803ORPHA17147737162230
HP:0001257HP:0001264Spastic diplegia1NEFH CL E G H4744803ORPHA17147737162230
HP:0001257HP:0002464Spastic dysarthria1NEFH CL E G H4744803ORPHA17147737162230
HP:0001257HP:0002064Spastic gait1NEFH CL E G H4744803ORPHA17147737162230
HP:0001257HP:0011099Spastic hemiparesis1NEFH CL E G H4744803ORPHA17147737162230
HP:0001257HP:0001285Spastic tetraparesis1NEFH CL E G H4744803ORPHA17147737162230
HP:0001257HP:0002510Spastic tetraplegia1NEFH CL E G H4744803ORPHA17147737162230
HP:0001257HP:0002501Spasticity of pharyngeal muscles1NEFH CL E G H4744803ORPHA17147737162230
HP:0001257HP:0006986Upper limb spasticity1NEFH CL E G H4744803ORPHA17147737162230
HP:0001257HP:0002491Spasticity of facial muscles1NEK1 CL E G H4750803ORPHA16797744604588
HP:0001257HP:0031866Clasp-knife sign1NEK1 CL E G H4750803ORPHA16797744604588
HP:0001257HP:0002061Lower limb spasticity1NEK1 CL E G H4750803ORPHA16797744604588
HP:0001257HP:0002179Opisthotonus1NEK1 CL E G H4750803ORPHA16797744604588
HP:0001257HP:0002191Progressive spasticity1NEK1 CL E G H4750803ORPHA16797744604588
HP:0001257HP:0001264Spastic diplegia1NEK1 CL E G H4750803ORPHA16797744604588
HP:0001257HP:0002464Spastic dysarthria1NEK1 CL E G H4750803ORPHA16797744604588
HP:0001257HP:0002064Spastic gait1NEK1 CL E G H4750803ORPHA16797744604588
HP:0001257HP:0011099Spastic hemiparesis1NEK1 CL E G H4750803ORPHA16797744604588
HP:0001257HP:0001285Spastic tetraparesis1NEK1 CL E G H4750803ORPHA16797744604588
HP:0001257HP:0002510Spastic tetraplegia1NEK1 CL E G H4750803ORPHA16797744604588
HP:0001257HP:0002501Spasticity of pharyngeal muscles1NEK1 CL E G H4750803ORPHA16797744604588
HP:0001257HP:0006986Upper limb spasticity1NEK1 CL E G H4750803ORPHA16797744604588
HP:0001257HP:0002491Spasticity of facial muscles1NEXMIF CL E G H340533300912Mental retardation, X-linked 98300912C3806730OMIM199029433300524
HP:0001257HP:0031866Clasp-knife sign1NEXMIF CL E G H340533300912Mental retardation, X-linked 98300912C3806730OMIM199029433300524
HP:0001257HP:0002061Lower limb spasticity1NEXMIF CL E G H340533300912Mental retardation, X-linked 98300912C3806730OMIM199029433300524
HP:0001257HP:0002179Opisthotonus1NEXMIF CL E G H340533300912Mental retardation, X-linked 98300912C3806730OMIM199029433300524
HP:0001257HP:0002191Progressive spasticity1NEXMIF CL E G H340533300912Mental retardation, X-linked 98300912C3806730OMIM199029433300524
HP:0001257HP:0001264Spastic diplegia1NEXMIF CL E G H340533300912Mental retardation, X-linked 98300912C3806730OMIM199029433300524
HP:0001257HP:0002464Spastic dysarthria1NEXMIF CL E G H340533300912Mental retardation, X-linked 98300912C3806730OMIM199029433300524
HP:0001257HP:0002064Spastic gait1NEXMIF CL E G H340533300912Mental retardation, X-linked 98300912C3806730OMIM199029433300524
HP:0001257HP:0011099Spastic hemiparesis1NEXMIF CL E G H340533300912Mental retardation, X-linked 98300912C3806730OMIM199029433300524
HP:0001257HP:0001285Spastic tetraparesis1NEXMIF CL E G H340533300912Mental retardation, X-linked 98300912C3806730OMIM199029433300524
HP:0001257HP:0002510Spastic tetraplegia1NEXMIF CL E G H340533300912Mental retardation, X-linked 98300912C3806730OMIM199029433300524
HP:0001257HP:0002501Spasticity of pharyngeal muscles1NEXMIF CL E G H340533300912Mental retardation, X-linked 98300912C3806730OMIM199029433300524
HP:0001257HP:0006986Upper limb spasticity1NEXMIF CL E G H340533300912Mental retardation, X-linked 98300912C3806730OMIM199029433300524
HP:0001257HP:0002491Spasticity of facial muscles1NKX6-2 CL E G H84504617560SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY617560C4479653OMIM123319321605955
HP:0001257HP:0031866Clasp-knife sign1NKX6-2 CL E G H84504617560SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY617560C4479653OMIM123319321605955
HP:0001257HP:0002061Lower limb spasticity1NKX6-2 CL E G H84504617560SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY617560C4479653OMIM123319321605955
HP:0001257HP:0002179Opisthotonus1NKX6-2 CL E G H84504617560SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY617560C4479653OMIM123319321605955
HP:0001257HP:0002191Progressive spasticity1NKX6-2 CL E G H84504617560SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY617560C4479653OMIM123319321605955
HP:0001257HP:0001264Spastic diplegia1NKX6-2 CL E G H84504617560SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY617560C4479653OMIM123319321605955
HP:0001257HP:0002464Spastic dysarthria1NKX6-2 CL E G H84504617560SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY617560C4479653OMIM123319321605955
HP:0001257HP:0002064Spastic gait1NKX6-2 CL E G H84504617560SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY617560C4479653OMIM123319321605955
HP:0001257HP:0011099Spastic hemiparesis1NKX6-2 CL E G H84504617560SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY617560C4479653OMIM123319321605955
HP:0001257HP:0001285Spastic tetraparesis1NKX6-2 CL E G H84504617560SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY617560C4479653OMIM123319321605955
HP:0001257HP:0002510Spastic tetraplegia1NKX6-2 CL E G H84504617560SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY617560C4479653OMIM123319321605955
HP:0001257HP:0002501Spasticity of pharyngeal muscles1NKX6-2 CL E G H84504617560SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY617560C4479653OMIM123319321605955
HP:0001257HP:0006986Upper limb spasticity1NKX6-2 CL E G H84504617560SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY617560C4479653OMIM123319321605955
HP:0001257HP:0002491Spasticity of facial muscles1NOTCH3 CL E G H4854136ORPHA113437883600276
HP:0001257HP:0031866Clasp-knife sign1NOTCH3 CL E G H4854136ORPHA113437883600276
HP:0001257HP:0002061Lower limb spasticity1NOTCH3 CL E G H4854136ORPHA113437883600276
HP:0001257HP:0002179Opisthotonus1NOTCH3 CL E G H4854136ORPHA113437883600276
HP:0001257HP:0002191Progressive spasticity1NOTCH3 CL E G H4854136ORPHA113437883600276
HP:0001257HP:0001264Spastic diplegia1NOTCH3 CL E G H4854136ORPHA113437883600276
HP:0001257HP:0002464Spastic dysarthria1NOTCH3 CL E G H4854136ORPHA113437883600276
HP:0001257HP:0002064Spastic gait1NOTCH3 CL E G H4854136ORPHA113437883600276
HP:0001257HP:0011099Spastic hemiparesis1NOTCH3 CL E G H4854136ORPHA113437883600276
HP:0001257HP:0001285Spastic tetraparesis1NOTCH3 CL E G H4854136ORPHA113437883600276
HP:0001257HP:0002510Spastic tetraplegia1NOTCH3 CL E G H4854136ORPHA113437883600276
HP:0001257HP:0002501Spasticity of pharyngeal muscles1NOTCH3 CL E G H4854136ORPHA113437883600276
HP:0001257HP:0006986Upper limb spasticity1NOTCH3 CL E G H4854136ORPHA113437883600276
HP:0001257HP:0002491Spasticity of facial muscles1NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM121097897607623
HP:0001257HP:0031866Clasp-knife sign1NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM121097897607623
HP:0001257HP:0002061Lower limb spasticity1NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM121097897607623
HP:0001257HP:0002179Opisthotonus1NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM121097897607623
HP:0001257HP:0002191Progressive spasticity1NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM121097897607623
HP:0001257HP:0001264Spastic diplegia1NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM121097897607623
HP:0001257HP:0002464Spastic dysarthria1NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM121097897607623
HP:0001257HP:0002064Spastic gait1NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM121097897607623
HP:0001257HP:0011099Spastic hemiparesis1NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM121097897607623
HP:0001257HP:0001285Spastic tetraparesis1NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM121097897607623
HP:0001257HP:0002510Spastic tetraplegia1NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM121097897607623
HP:0001257HP:0002501Spasticity of pharyngeal muscles1NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM121097897607623
HP:0001257HP:0006986Upper limb spasticity1NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM121097897607623
HP:0001257HP:0002491Spasticity of facial muscles1NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM123214537601015
HP:0001257HP:0031866Clasp-knife sign1NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM123214537601015
HP:0001257HP:0002061Lower limb spasticity1NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM123214537601015
HP:0001257HP:0002179Opisthotonus1NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM123214537601015
HP:0001257HP:0002191Progressive spasticity1NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM123214537601015
HP:0001257HP:0001264Spastic diplegia1NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM123214537601015
HP:0001257HP:0002464Spastic dysarthria1NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM123214537601015
HP:0001257HP:0002064Spastic gait1NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM123214537601015
HP:0001257HP:0011099Spastic hemiparesis1NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM123214537601015
HP:0001257HP:0001285Spastic tetraparesis1NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM123214537601015
HP:0001257HP:0002510Spastic tetraplegia1NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM123214537601015
HP:0001257HP:0002501Spasticity of pharyngeal muscles1NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM123214537601015
HP:0001257HP:0006986Upper limb spasticity1NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM123214537601015
HP:0001257HP:0002491Spasticity of facial muscles1NSD1 CL E G H643243447ORPHA1173414234606681
HP:0001257HP:0031866Clasp-knife sign1NSD1 CL E G H643243447ORPHA1173414234606681
HP:0001257HP:0002061Lower limb spasticity1NSD1 CL E G H643243447ORPHA1173414234606681
HP:0001257HP:0002179Opisthotonus1NSD1 CL E G H643243447ORPHA1173414234606681
HP:0001257HP:0002191Progressive spasticity1NSD1 CL E G H643243447ORPHA1173414234606681
HP:0001257HP:0001264Spastic diplegia1NSD1 CL E G H643243447ORPHA1173414234606681
HP:0001257HP:0002464Spastic dysarthria1NSD1 CL E G H643243447ORPHA1173414234606681
HP:0001257HP:0002064Spastic gait1NSD1 CL E G H643243447ORPHA1173414234606681
HP:0001257HP:0011099Spastic hemiparesis1NSD1 CL E G H643243447ORPHA1173414234606681
HP:0001257HP:0001285Spastic tetraparesis1NSD1 CL E G H643243447ORPHA1173414234606681
HP:0001257HP:0002510Spastic tetraplegia1NSD1 CL E G H643243447ORPHA1173414234606681
HP:0001257HP:0002501Spasticity of pharyngeal muscles1NSD1 CL E G H643243447ORPHA1173414234606681
HP:0001257HP:0006986Upper limb spasticity1NSD1 CL E G H643243447ORPHA1173414234606681
HP:0001257HP:0002491Spasticity of facial muscles1NSUN2 CL E G H54888611091Mental retardation, autosomal recessive 5611091C1970199OMIM156625994610916
HP:0001257HP:0031866Clasp-knife sign1NSUN2 CL E G H54888611091Mental retardation, autosomal recessive 5611091C1970199OMIM156625994610916
HP:0001257HP:0002061Lower limb spasticity1NSUN2 CL E G H54888611091Mental retardation, autosomal recessive 5611091C1970199OMIM156625994610916
HP:0001257HP:0002179Opisthotonus1NSUN2 CL E G H54888611091Mental retardation, autosomal recessive 5611091C1970199OMIM156625994610916
HP:0001257HP:0002191Progressive spasticity1NSUN2 CL E G H54888611091Mental retardation, autosomal recessive 5611091C1970199OMIM156625994610916
HP:0001257HP:0001264Spastic diplegia1NSUN2 CL E G H54888611091Mental retardation, autosomal recessive 5611091C1970199OMIM156625994610916
HP:0001257HP:0002464Spastic dysarthria1NSUN2 CL E G H54888611091Mental retardation, autosomal recessive 5611091C1970199OMIM156625994610916
HP:0001257HP:0002064Spastic gait1NSUN2 CL E G H54888611091Mental retardation, autosomal recessive 5611091C1970199OMIM156625994610916
HP:0001257HP:0011099Spastic hemiparesis1NSUN2 CL E G H54888611091Mental retardation, autosomal recessive 5611091C1970199OMIM156625994610916
HP:0001257HP:0001285Spastic tetraparesis1NSUN2 CL E G H54888611091Mental retardation, autosomal recessive 5611091C1970199OMIM156625994610916
HP:0001257HP:0002510Spastic tetraplegia1NSUN2 CL E G H54888611091Mental retardation, autosomal recessive 5611091C1970199OMIM156625994610916
HP:0001257HP:0002501Spasticity of pharyngeal muscles1NSUN2 CL E G H54888611091Mental retardation, autosomal recessive 5611091C1970199OMIM156625994610916
HP:0001257HP:0006986Upper limb spasticity1NSUN2 CL E G H54888611091Mental retardation, autosomal recessive 5611091C1970199OMIM156625994610916
HP:0001257HP:0002491Spasticity of facial muscles1NTNG1 CL E G H228543095ORPHA15723319608818
HP:0001257HP:0031866Clasp-knife sign1NTNG1 CL E G H228543095ORPHA15723319608818
HP:0001257HP:0002061Lower limb spasticity1NTNG1 CL E G H228543095ORPHA15723319608818
HP:0001257HP:0002179Opisthotonus1NTNG1 CL E G H228543095ORPHA15723319608818
HP:0001257HP:0002191Progressive spasticity1NTNG1 CL E G H228543095ORPHA15723319608818
HP:0001257HP:0001264Spastic diplegia1NTNG1 CL E G H228543095ORPHA15723319608818
HP:0001257HP:0002464Spastic dysarthria1NTNG1 CL E G H228543095ORPHA15723319608818
HP:0001257HP:0002064Spastic gait1NTNG1 CL E G H228543095ORPHA15723319608818
HP:0001257HP:0011099Spastic hemiparesis1NTNG1 CL E G H228543095ORPHA15723319608818
HP:0001257HP:0001285Spastic tetraparesis1NTNG1 CL E G H228543095ORPHA15723319608818
HP:0001257HP:0002510Spastic tetraplegia1NTNG1 CL E G H228543095ORPHA15723319608818
HP:0001257HP:0002501Spasticity of pharyngeal muscles1NTNG1 CL E G H228543095ORPHA15723319608818
HP:0001257HP:0006986Upper limb spasticity1NTNG1 CL E G H228543095ORPHA15723319608818
HP:0001257HP:0002491Spasticity of facial muscles1NUBPL CL E G H80224618242MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21618242OMIM128420278613621
HP:0001257HP:0031866Clasp-knife sign1NUBPL CL E G H80224618242MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21618242OMIM128420278613621
HP:0001257HP:0002061Lower limb spasticity1NUBPL CL E G H80224618242MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21618242OMIM128420278613621
HP:0001257HP:0002179Opisthotonus1NUBPL CL E G H80224618242MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21618242OMIM128420278613621
HP:0001257HP:0002191Progressive spasticity1NUBPL CL E G H80224618242MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21618242OMIM128420278613621
HP:0001257HP:0001264Spastic diplegia1NUBPL CL E G H80224618242MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21618242OMIM128420278613621
HP:0001257HP:0002464Spastic dysarthria1NUBPL CL E G H80224618242MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21618242OMIM128420278613621
HP:0001257HP:0002064Spastic gait1NUBPL CL E G H80224618242MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21618242OMIM128420278613621
HP:0001257HP:0011099Spastic hemiparesis1NUBPL CL E G H80224618242MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21618242OMIM128420278613621
HP:0001257HP:0001285Spastic tetraparesis1NUBPL CL E G H80224618242MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21618242OMIM128420278613621
HP:0001257HP:0002510Spastic tetraplegia1NUBPL CL E G H80224618242MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21618242OMIM128420278613621
HP:0001257HP:0002501Spasticity of pharyngeal muscles1NUBPL CL E G H80224618242MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21618242OMIM128420278613621
HP:0001257HP:0006986Upper limb spasticity1NUBPL CL E G H80224618242MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21618242OMIM128420278613621
HP:0001257HP:0002491Spasticity of facial muscles1NUP62 CL E G H23636271930Striatonigral degeneration infantile271930C0795996OMIM11618066605815
HP:0001257HP:0031866Clasp-knife sign1NUP62 CL E G H23636271930Striatonigral degeneration infantile271930C0795996OMIM11618066605815
HP:0001257HP:0002061Lower limb spasticity1NUP62 CL E G H23636271930Striatonigral degeneration infantile271930C0795996OMIM11618066605815
HP:0001257HP:0002179Opisthotonus1NUP62 CL E G H23636271930Striatonigral degeneration infantile271930C0795996OMIM11618066605815
HP:0001257HP:0002191Progressive spasticity1NUP62 CL E G H23636271930Striatonigral degeneration infantile271930C0795996OMIM11618066605815
HP:0001257HP:0001264Spastic diplegia1NUP62 CL E G H23636271930Striatonigral degeneration infantile271930C0795996OMIM11618066605815
HP:0001257HP:0002464Spastic dysarthria1NUP62 CL E G H23636271930Striatonigral degeneration infantile271930C0795996OMIM11618066605815
HP:0001257HP:0002064Spastic gait1NUP62 CL E G H23636271930Striatonigral degeneration infantile271930C0795996OMIM11618066605815
HP:0001257HP:0011099Spastic hemiparesis1NUP62 CL E G H23636271930Striatonigral degeneration infantile271930C0795996OMIM11618066605815
HP:0001257HP:0001285Spastic tetraparesis1NUP62 CL E G H23636271930Striatonigral degeneration infantile271930C0795996OMIM11618066605815
HP:0001257HP:0002510Spastic tetraplegia1NUP62 CL E G H23636271930Striatonigral degeneration infantile271930C0795996OMIM11618066605815
HP:0001257HP:0002501Spasticity of pharyngeal muscles1NUP62 CL E G H23636271930Striatonigral degeneration infantile271930C0795996OMIM11618066605815
HP:0001257HP:0006986Upper limb spasticity1NUP62 CL E G H23636271930Striatonigral degeneration infantile271930C0795996OMIM11618066605815
HP:0001257HP:0002491Spasticity of facial muscles1NUS1 CL E G H116150617082CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa617082C4310727OMIM132621042610463
HP:0001257HP:0031866Clasp-knife sign1NUS1 CL E G H116150617082CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa617082C4310727OMIM132621042610463
HP:0001257HP:0002061Lower limb spasticity1NUS1 CL E G H116150617082CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa617082C4310727OMIM132621042610463
HP:0001257HP:0002179Opisthotonus1NUS1 CL E G H116150617082CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa617082C4310727OMIM132621042610463
HP:0001257HP:0002191Progressive spasticity1NUS1 CL E G H116150617082CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa617082C4310727OMIM132621042610463
HP:0001257HP:0001264Spastic diplegia1NUS1 CL E G H116150617082CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa617082C4310727OMIM132621042610463
HP:0001257HP:0002464Spastic dysarthria1NUS1 CL E G H116150617082CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa617082C4310727OMIM132621042610463
HP:0001257HP:0002064Spastic gait1NUS1 CL E G H116150617082CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa617082C4310727OMIM132621042610463
HP:0001257HP:0011099Spastic hemiparesis1NUS1 CL E G H116150617082CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa617082C4310727OMIM132621042610463
HP:0001257HP:0001285Spastic tetraparesis1NUS1 CL E G H116150617082CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa617082C4310727OMIM132621042610463
HP:0001257HP:0002510Spastic tetraplegia1NUS1 CL E G H116150617082CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa617082C4310727OMIM132621042610463
HP:0001257HP:0002501Spasticity of pharyngeal muscles1NUS1 CL E G H116150617082CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa617082C4310727OMIM132621042610463
HP:0001257HP:0006986Upper limb spasticity1NUS1 CL E G H116150617082CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa617082C4310727OMIM132621042610463
HP:0001257HP:0002491Spasticity of facial muscles1OCLN CL E G H1005066581229ORPHA11388104602876
HP:0001257HP:0031866Clasp-knife sign1OCLN CL E G H1005066581229ORPHA11388104602876
HP:0001257HP:0002061Lower limb spasticity1OCLN CL E G H1005066581229ORPHA11388104602876
HP:0001257HP:0002179Opisthotonus1OCLN CL E G H1005066581229ORPHA11388104602876
HP:0001257HP:0002191Progressive spasticity1OCLN CL E G H1005066581229ORPHA11388104602876
HP:0001257HP:0001264Spastic diplegia1OCLN CL E G H1005066581229ORPHA11388104602876
HP:0001257HP:0002464Spastic dysarthria1OCLN CL E G H1005066581229ORPHA11388104602876
HP:0001257HP:0002064Spastic gait1OCLN CL E G H1005066581229ORPHA11388104602876
HP:0001257HP:0011099Spastic hemiparesis1OCLN CL E G H1005066581229ORPHA11388104602876
HP:0001257HP:0001285Spastic tetraparesis1OCLN CL E G H1005066581229ORPHA11388104602876
HP:0001257HP:0002510Spastic tetraplegia1OCLN CL E G H1005066581229ORPHA11388104602876
HP:0001257HP:0002501Spasticity of pharyngeal muscles1OCLN CL E G H1005066581229ORPHA11388104602876
HP:0001257HP:0006986Upper limb spasticity1OCLN CL E G H1005066581229ORPHA11388104602876
HP:0001257HP:0002491Spasticity of facial muscles1OCLN CL E G H100506658251290Band-like calcification with simplified gyration and polymicrogyria251290C3489725OMIM11388104602876
HP:0001257HP:0031866Clasp-knife sign1OCLN CL E G H100506658251290Band-like calcification with simplified gyration and polymicrogyria251290C3489725OMIM11388104602876
HP:0001257HP:0002061Lower limb spasticity1OCLN CL E G H100506658251290Band-like calcification with simplified gyration and polymicrogyria251290C3489725OMIM11388104602876
HP:0001257HP:0002179Opisthotonus1OCLN CL E G H100506658251290Band-like calcification with simplified gyration and polymicrogyria251290C3489725OMIM11388104602876
HP:0001257HP:0002191Progressive spasticity1OCLN CL E G H100506658251290Band-like calcification with simplified gyration and polymicrogyria251290C3489725OMIM11388104602876
HP:0001257HP:0001264Spastic diplegia1OCLN CL E G H100506658251290Band-like calcification with simplified gyration and polymicrogyria251290C3489725OMIM11388104602876
HP:0001257HP:0002464Spastic dysarthria1OCLN CL E G H100506658251290Band-like calcification with simplified gyration and polymicrogyria251290C3489725OMIM11388104602876
HP:0001257HP:0002064Spastic gait1OCLN CL E G H100506658251290Band-like calcification with simplified gyration and polymicrogyria251290C3489725OMIM11388104602876
HP:0001257HP:0011099Spastic hemiparesis1OCLN CL E G H100506658251290Band-like calcification with simplified gyration and polymicrogyria251290C3489725OMIM11388104602876
HP:0001257HP:0001285Spastic tetraparesis1OCLN CL E G H100506658251290Band-like calcification with simplified gyration and polymicrogyria251290C3489725OMIM11388104602876
HP:0001257HP:0002510Spastic tetraplegia1OCLN CL E G H100506658251290Band-like calcification with simplified gyration and polymicrogyria251290C3489725OMIM11388104602876
HP:0001257HP:0002501Spasticity of pharyngeal muscles1OCLN CL E G H100506658251290Band-like calcification with simplified gyration and polymicrogyria251290C3489725OMIM11388104602876
HP:0001257HP:0006986Upper limb spasticity1OCLN CL E G H100506658251290Band-like calcification with simplified gyration and polymicrogyria251290C3489725OMIM11388104602876
HP:0001257HP:0002491Spasticity of facial muscles1OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM15238142606580
HP:0001257HP:0031866Clasp-knife sign1OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM15238142606580
HP:0001257HP:0002061Lower limb spasticity1OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM15238142606580
HP:0001257HP:0002179Opisthotonus1OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM15238142606580
HP:0001257HP:0002191Progressive spasticity1OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM15238142606580
HP:0001257HP:0001264Spastic diplegia1OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM15238142606580
HP:0001257HP:0002464Spastic dysarthria1OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM15238142606580
HP:0001257HP:0002064Spastic gait1OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM15238142606580
HP:0001257HP:0011099Spastic hemiparesis1OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM15238142606580
HP:0001257HP:0001285Spastic tetraparesis1OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM15238142606580
HP:0001257HP:0002510Spastic tetraplegia1OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM15238142606580
HP:0001257HP:0002501Spasticity of pharyngeal muscles1OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM15238142606580
HP:0001257HP:0006986Upper limb spasticity1OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM15238142606580
HP:0001257HP:0002491Spasticity of facial muscles1OPHN1 CL E G H4983300486Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance300486C1845366OMIM14758148300127
HP:0001257HP:0031866Clasp-knife sign1OPHN1 CL E G H4983300486Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance300486C1845366OMIM14758148300127
HP:0001257HP:0002061Lower limb spasticity1OPHN1 CL E G H4983300486Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance300486C1845366OMIM14758148300127
HP:0001257HP:0002179Opisthotonus1OPHN1 CL E G H4983300486Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance300486C1845366OMIM14758148300127
HP:0001257HP:0002191Progressive spasticity1OPHN1 CL E G H4983300486Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance300486C1845366OMIM14758148300127
HP:0001257HP:0001264Spastic diplegia1OPHN1 CL E G H4983300486Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance300486C1845366OMIM14758148300127
HP:0001257HP:0002464Spastic dysarthria1OPHN1 CL E G H4983300486Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance300486C1845366OMIM14758148300127
HP:0001257HP:0002064Spastic gait1OPHN1 CL E G H4983300486Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance300486C1845366OMIM14758148300127
HP:0001257HP:0011099Spastic hemiparesis1OPHN1 CL E G H4983300486Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance300486C1845366OMIM14758148300127
HP:0001257HP:0001285Spastic tetraparesis1OPHN1 CL E G H4983300486Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance300486C1845366OMIM14758148300127
HP:0001257HP:0002510Spastic tetraplegia1OPHN1 CL E G H4983300486Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance300486C1845366OMIM14758148300127
HP:0001257HP:0002501Spasticity of pharyngeal muscles1OPHN1 CL E G H4983300486Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance300486C1845366OMIM14758148300127
HP:0001257HP:0006986Upper limb spasticity1OPHN1 CL E G H4983300486Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance300486C1845366OMIM14758148300127
HP:0001257HP:0002491Spasticity of facial muscles1OPTN CL E G H10133803ORPHA142817142602432
HP:0001257HP:0031866Clasp-knife sign1OPTN CL E G H10133803ORPHA142817142602432
HP:0001257HP:0002061Lower limb spasticity1OPTN CL E G H10133803ORPHA142817142602432
HP:0001257HP:0002179Opisthotonus1OPTN CL E G H10133803ORPHA142817142602432
HP:0001257HP:0002191Progressive spasticity1OPTN CL E G H10133803ORPHA142817142602432
HP:0001257HP:0001264Spastic diplegia1OPTN CL E G H10133803ORPHA142817142602432
HP:0001257HP:0002464Spastic dysarthria1OPTN CL E G H10133803ORPHA142817142602432
HP:0001257HP:0002064Spastic gait1OPTN CL E G H10133803ORPHA142817142602432
HP:0001257HP:0011099Spastic hemiparesis1OPTN CL E G H10133803ORPHA142817142602432
HP:0001257HP:0001285Spastic tetraparesis1OPTN CL E G H10133803ORPHA142817142602432
HP:0001257HP:0002510Spastic tetraplegia1OPTN CL E G H10133803ORPHA142817142602432
HP:0001257HP:0002501Spasticity of pharyngeal muscles1OPTN CL E G H10133803ORPHA142817142602432
HP:0001257HP:0006986Upper limb spasticity1OPTN CL E G H10133803ORPHA142817142602432
HP:0001257HP:0002491Spasticity of facial muscles1OSGEP CL E G H55644617729GALLOWAY-MOWAT SYNDROME 3617729C4540266OMIM115218028610107
HP:0001257HP:0031866Clasp-knife sign1OSGEP CL E G H55644617729GALLOWAY-MOWAT SYNDROME 3617729C4540266OMIM115218028610107
HP:0001257HP:0002061Lower limb spasticity1OSGEP CL E G H55644617729GALLOWAY-MOWAT SYNDROME 3617729C4540266OMIM115218028610107
HP:0001257HP:0002179Opisthotonus1OSGEP CL E G H55644617729GALLOWAY-MOWAT SYNDROME 3617729C4540266OMIM115218028610107
HP:0001257HP:0002191Progressive spasticity1OSGEP CL E G H55644617729GALLOWAY-MOWAT SYNDROME 3617729C4540266OMIM115218028610107
HP:0001257HP:0001264Spastic diplegia1OSGEP CL E G H55644617729GALLOWAY-MOWAT SYNDROME 3617729C4540266OMIM115218028610107
HP:0001257HP:0002464Spastic dysarthria1OSGEP CL E G H55644617729GALLOWAY-MOWAT SYNDROME 3617729C4540266OMIM115218028610107
HP:0001257HP:0002064Spastic gait1OSGEP CL E G H55644617729GALLOWAY-MOWAT SYNDROME 3617729C4540266OMIM115218028610107
HP:0001257HP:0011099Spastic hemiparesis1OSGEP CL E G H55644617729GALLOWAY-MOWAT SYNDROME 3617729C4540266OMIM115218028610107
HP:0001257HP:0001285Spastic tetraparesis1OSGEP CL E G H55644617729GALLOWAY-MOWAT SYNDROME 3617729C4540266OMIM115218028610107
HP:0001257HP:0002510Spastic tetraplegia1OSGEP CL E G H55644617729GALLOWAY-MOWAT SYNDROME 3617729C4540266OMIM115218028610107
HP:0001257HP:0002501Spasticity of pharyngeal muscles1OSGEP CL E G H55644617729GALLOWAY-MOWAT SYNDROME 3617729C4540266OMIM115218028610107
HP:0001257HP:0006986Upper limb spasticity1OSGEP CL E G H55644617729GALLOWAY-MOWAT SYNDROME 3617729C4540266OMIM115218028610107
HP:0001257HP:0002491Spasticity of facial muscles1PANK2 CL E G H80025216873ORPHA149915894606157
HP:0001257HP:0031866Clasp-knife sign1PANK2 CL E G H80025216873ORPHA149915894606157
HP:0001257HP:0002061Lower limb spasticity1PANK2 CL E G H80025216873ORPHA149915894606157
HP:0001257HP:0002179Opisthotonus1PANK2 CL E G H80025216873ORPHA149915894606157
HP:0001257HP:0002191Progressive spasticity1PANK2 CL E G H80025216873ORPHA149915894606157
HP:0001257HP:0001264Spastic diplegia1PANK2 CL E G H80025216873ORPHA149915894606157
HP:0001257HP:0002464Spastic dysarthria1PANK2 CL E G H80025216873ORPHA149915894606157
HP:0001257HP:0002064Spastic gait1PANK2 CL E G H80025216873ORPHA149915894606157
HP:0001257HP:0011099Spastic hemiparesis1PANK2 CL E G H80025216873ORPHA149915894606157
HP:0001257HP:0001285Spastic tetraparesis1PANK2 CL E G H80025216873ORPHA149915894606157
HP:0001257HP:0002510Spastic tetraplegia1PANK2 CL E G H80025216873ORPHA149915894606157
HP:0001257HP:0002501Spasticity of pharyngeal muscles1PANK2 CL E G H80025216873ORPHA149915894606157
HP:0001257HP:0006986Upper limb spasticity1PANK2 CL E G H80025216873ORPHA149915894606157
HP:0001257HP:0002491Spasticity of facial muscles1PANK2 CL E G H80025607236Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration607236C1846582OMIM149915894606157
HP:0001257HP:0031866Clasp-knife sign1PANK2 CL E G H80025607236Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration607236C1846582OMIM149915894606157
HP:0001257HP:0002061Lower limb spasticity1PANK2 CL E G H80025607236Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration607236C1846582OMIM149915894606157
HP:0001257HP:0002179Opisthotonus1PANK2 CL E G H80025607236Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration607236C1846582OMIM149915894606157
HP:0001257HP:0002191Progressive spasticity1PANK2 CL E G H80025607236Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration607236C1846582OMIM149915894606157
HP:0001257HP:0001264Spastic diplegia1PANK2 CL E G H80025607236Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration607236C1846582OMIM149915894606157
HP:0001257HP:0002464Spastic dysarthria1PANK2 CL E G H80025607236Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration607236C1846582OMIM149915894606157
HP:0001257HP:0002064Spastic gait1PANK2 CL E G H80025607236Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration607236C1846582OMIM149915894606157
HP:0001257HP:0011099Spastic hemiparesis1PANK2 CL E G H80025607236Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration607236C1846582OMIM149915894606157
HP:0001257HP:0001285Spastic tetraparesis1PANK2 CL E G H80025607236Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration607236C1846582OMIM149915894606157
HP:0001257HP:0002510Spastic tetraplegia1PANK2 CL E G H80025607236Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration607236C1846582OMIM149915894606157
HP:0001257HP:0002501Spasticity of pharyngeal muscles1PANK2 CL E G H80025607236Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration607236C1846582OMIM149915894606157
HP:0001257HP:0006986Upper limb spasticity1PANK2 CL E G H80025607236Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration607236C1846582OMIM149915894606157
HP:0001257HP:0002491Spasticity of facial muscles1PANK2 CL E G H80025234200Pigmentary pallidal degeneration234200C0018523OMIM149915894606157
HP:0001257HP:0031866Clasp-knife sign1PANK2 CL E G H80025234200Pigmentary pallidal degeneration234200C0018523OMIM149915894606157
HP:0001257HP:0002061Lower limb spasticity1PANK2 CL E G H80025234200Pigmentary pallidal degeneration234200C0018523OMIM149915894606157
HP:0001257HP:0002179Opisthotonus1PANK2 CL E G H80025234200Pigmentary pallidal degeneration234200C0018523OMIM149915894606157
HP:0001257HP:0002191Progressive spasticity1PANK2 CL E G H80025234200Pigmentary pallidal degeneration234200C0018523OMIM149915894606157
HP:0001257HP:0001264Spastic diplegia1PANK2 CL E G H80025234200Pigmentary pallidal degeneration234200C0018523OMIM149915894606157
HP:0001257HP:0002464Spastic dysarthria1PANK2 CL E G H80025234200Pigmentary pallidal degeneration234200C0018523OMIM149915894606157
HP:0001257HP:0002064Spastic gait1PANK2 CL E G H80025234200Pigmentary pallidal degeneration234200C0018523OMIM149915894606157
HP:0001257HP:0011099Spastic hemiparesis1PANK2 CL E G H80025234200Pigmentary pallidal degeneration234200C0018523OMIM149915894606157
HP:0001257HP:0001285Spastic tetraparesis1PANK2 CL E G H80025234200Pigmentary pallidal degeneration234200C0018523OMIM149915894606157
HP:0001257HP:0002510Spastic tetraplegia1PANK2 CL E G H80025234200Pigmentary pallidal degeneration234200C0018523OMIM149915894606157
HP:0001257HP:0002501Spasticity of pharyngeal muscles1PANK2 CL E G H80025234200Pigmentary pallidal degeneration234200C0018523OMIM149915894606157
HP:0001257HP:0006986Upper limb spasticity1PANK2 CL E G H80025234200Pigmentary pallidal degeneration234200C0018523OMIM149915894606157
HP:0001257HP:0002491Spasticity of facial muscles1PCLO CL E G H27445608027Pontocerebellar hypoplasia type 3608027C1842687OMIM1243013406604918
HP:0001257HP:0031866Clasp-knife sign1PCLO CL E G H27445608027Pontocerebellar hypoplasia type 3608027C1842687OMIM1243013406604918
HP:0001257HP:0002061Lower limb spasticity1PCLO CL E G H27445608027Pontocerebellar hypoplasia type 3608027C1842687OMIM1243013406604918
HP:0001257HP:0002179Opisthotonus1PCLO CL E G H27445608027Pontocerebellar hypoplasia type 3608027C1842687OMIM1243013406604918
HP:0001257HP:0002191Progressive spasticity1PCLO CL E G H27445608027Pontocerebellar hypoplasia type 3608027C1842687OMIM1243013406604918
HP:0001257HP:0001264Spastic diplegia1PCLO CL E G H27445608027Pontocerebellar hypoplasia type 3608027C1842687OMIM1243013406604918
HP:0001257HP:0002464Spastic dysarthria1PCLO CL E G H27445608027Pontocerebellar hypoplasia type 3608027C1842687OMIM1243013406604918
HP:0001257HP:0002064Spastic gait1PCLO CL E G H27445608027Pontocerebellar hypoplasia type 3608027C1842687OMIM1243013406604918
HP:0001257HP:0011099Spastic hemiparesis1PCLO CL E G H27445608027Pontocerebellar hypoplasia type 3608027C1842687OMIM1243013406604918
HP:0001257HP:0001285Spastic tetraparesis1PCLO CL E G H27445608027Pontocerebellar hypoplasia type 3608027C1842687OMIM1243013406604918
HP:0001257HP:0002510Spastic tetraplegia1PCLO CL E G H27445608027Pontocerebellar hypoplasia type 3608027C1842687OMIM1243013406604918
HP:0001257HP:0002501Spasticity of pharyngeal muscles1PCLO CL E G H27445608027Pontocerebellar hypoplasia type 3608027C1842687OMIM1243013406604918
HP:0001257HP:0006986Upper limb spasticity1PCLO CL E G H27445608027Pontocerebellar hypoplasia type 3608027C1842687OMIM1243013406604918
HP:0001257HP:0002491Spasticity of facial muscles1PEX1 CL E G H5189772ORPHA115378850602136
HP:0001257HP:0031866Clasp-knife sign1PEX1 CL E G H5189772ORPHA115378850602136
HP:0001257HP:0002061Lower limb spasticity1PEX1 CL E G H5189772ORPHA115378850602136
HP:0001257HP:0002179Opisthotonus1PEX1 CL E G H5189772ORPHA115378850602136
HP:0001257HP:0002191Progressive spasticity1PEX1 CL E G H5189772ORPHA115378850602136
HP:0001257HP:0001264Spastic diplegia1PEX1 CL E G H5189772ORPHA115378850602136
HP:0001257HP:0002464Spastic dysarthria1PEX1 CL E G H5189772ORPHA115378850602136
HP:0001257HP:0002064Spastic gait1PEX1 CL E G H5189772ORPHA115378850602136
HP:0001257HP:0011099Spastic hemiparesis1PEX1 CL E G H5189772ORPHA115378850602136
HP:0001257HP:0001285Spastic tetraparesis1PEX1 CL E G H5189772ORPHA115378850602136
HP:0001257HP:0002510Spastic tetraplegia1PEX1 CL E G H5189772ORPHA115378850602136
HP:0001257HP:0002501Spasticity of pharyngeal muscles1PEX1 CL E G H5189772ORPHA115378850602136
HP:0001257HP:0006986Upper limb spasticity1PEX1 CL E G H5189772ORPHA115378850602136
HP:0001257HP:0002491Spasticity of facial muscles1PEX10 CL E G H5192772ORPHA18038851602859
HP:0001257HP:0031866Clasp-knife sign1PEX10 CL E G H5192772ORPHA18038851602859
HP:0001257HP:0002061Lower limb spasticity1PEX10 CL E G H5192772ORPHA18038851602859
HP:0001257HP:0002179Opisthotonus1PEX10 CL E G H5192772ORPHA18038851602859
HP:0001257HP:0002191Progressive spasticity1PEX10 CL E G H5192772ORPHA18038851602859
HP:0001257HP:0001264Spastic diplegia1PEX10 CL E G H5192772ORPHA18038851602859
HP:0001257HP:0002464Spastic dysarthria1PEX10 CL E G H5192772ORPHA18038851602859
HP:0001257HP:0002064Spastic gait1PEX10 CL E G H5192772ORPHA18038851602859
HP:0001257HP:0011099Spastic hemiparesis1PEX10 CL E G H5192772ORPHA18038851602859
HP:0001257HP:0001285Spastic tetraparesis1PEX10 CL E G H5192772ORPHA18038851602859
HP:0001257HP:0002510Spastic tetraplegia1PEX10 CL E G H5192772ORPHA18038851602859
HP:0001257HP:0002501Spasticity of pharyngeal muscles1PEX10 CL E G H5192772ORPHA18038851602859
HP:0001257HP:0006986Upper limb spasticity1PEX10 CL E G H5192772ORPHA18038851602859
HP:0001257HP:0002491Spasticity of facial muscles1PEX11B CL E G H8799772ORPHA14158853603867
HP:0001257HP:0031866Clasp-knife sign1PEX11B CL E G H8799772ORPHA14158853603867
HP:0001257HP:0002061Lower limb spasticity1PEX11B CL E G H8799772ORPHA14158853603867
HP:0001257HP:0002179Opisthotonus1PEX11B CL E G H8799772ORPHA14158853603867
HP:0001257HP:0002191Progressive spasticity1PEX11B CL E G H8799772ORPHA14158853603867
HP:0001257HP:0001264Spastic diplegia1PEX11B CL E G H8799772ORPHA14158853603867
HP:0001257HP:0002464Spastic dysarthria1PEX11B CL E G H8799772ORPHA14158853603867
HP:0001257HP:0002064Spastic gait1PEX11B CL E G H8799772ORPHA14158853603867
HP:0001257HP:0011099Spastic hemiparesis1PEX11B CL E G H8799772ORPHA14158853603867
HP:0001257HP:0001285Spastic tetraparesis1PEX11B CL E G H8799772ORPHA14158853603867
HP:0001257HP:0002510Spastic tetraplegia1PEX11B CL E G H8799772ORPHA14158853603867
HP:0001257HP:0002501Spasticity of pharyngeal muscles1PEX11B CL E G H8799772ORPHA14158853603867
HP:0001257HP:0006986Upper limb spasticity1PEX11B CL E G H8799772ORPHA14158853603867
HP:0001257HP:0002491Spasticity of facial muscles1PEX12 CL E G H5193772ORPHA14598854601758
HP:0001257HP:0031866Clasp-knife sign1PEX12 CL E G H5193772ORPHA14598854601758
HP:0001257HP:0002061Lower limb spasticity1PEX12 CL E G H5193772ORPHA14598854601758
HP:0001257HP:0002179Opisthotonus1PEX12 CL E G H5193772ORPHA14598854601758
HP:0001257HP:0002191Progressive spasticity1PEX12 CL E G H5193772ORPHA14598854601758
HP:0001257HP:0001264Spastic diplegia1PEX12 CL E G H5193772ORPHA14598854601758
HP:0001257HP:0002464Spastic dysarthria1PEX12 CL E G H5193772ORPHA14598854601758
HP:0001257HP:0002064Spastic gait1PEX12 CL E G H5193772ORPHA14598854601758
HP:0001257HP:0011099Spastic hemiparesis1PEX12 CL E G H5193772ORPHA14598854601758
HP:0001257HP:0001285Spastic tetraparesis1PEX12 CL E G H5193772ORPHA14598854601758
HP:0001257HP:0002510Spastic tetraplegia1PEX12 CL E G H5193772ORPHA14598854601758
HP:0001257HP:0002501Spasticity of pharyngeal muscles1PEX12 CL E G H5193772ORPHA14598854601758
HP:0001257HP:0006986Upper limb spasticity1PEX12 CL E G H5193772ORPHA14598854601758
HP:0001257HP:0002491Spasticity of facial muscles1PEX13 CL E G H5194772ORPHA14978855601789
HP:0001257HP:0031866Clasp-knife sign1PEX13 CL E G H5194772ORPHA14978855601789
HP:0001257HP:0002061Lower limb spasticity1PEX13 CL E G H5194772ORPHA14978855601789
HP:0001257HP:0002179Opisthotonus1PEX13 CL E G H5194772ORPHA14978855601789
HP:0001257HP:0002191Progressive spasticity1PEX13 CL E G H5194772ORPHA14978855601789
HP:0001257HP:0001264Spastic diplegia1PEX13 CL E G H5194772ORPHA14978855601789
HP:0001257HP:0002464Spastic dysarthria1PEX13 CL E G H5194772ORPHA14978855601789
HP:0001257HP:0002064Spastic gait1PEX13 CL E G H5194772ORPHA14978855601789
HP:0001257HP:0011099Spastic hemiparesis1PEX13 CL E G H5194772ORPHA14978855601789
HP:0001257HP:0001285Spastic tetraparesis1PEX13 CL E G H5194772ORPHA14978855601789
HP:0001257HP:0002510Spastic tetraplegia1PEX13 CL E G H5194772ORPHA14978855601789
HP:0001257HP:0002501Spasticity of pharyngeal muscles1PEX13 CL E G H5194772ORPHA14978855601789
HP:0001257HP:0006986Upper limb spasticity1PEX13 CL E G H5194772ORPHA14978855601789
HP:0001257HP:0002491Spasticity of facial muscles1PEX14 CL E G H5195772ORPHA14748856601791
HP:0001257HP:0031866Clasp-knife sign1PEX14 CL E G H5195772ORPHA14748856601791
HP:0001257HP:0002061Lower limb spasticity1PEX14 CL E G H5195772ORPHA14748856601791
HP:0001257HP:0002179Opisthotonus1PEX14 CL E G H5195772ORPHA14748856601791
HP:0001257HP:0002191Progressive spasticity1PEX14 CL E G H5195772ORPHA14748856601791
HP:0001257HP:0001264Spastic diplegia1PEX14 CL E G H5195772ORPHA14748856601791
HP:0001257HP:0002464Spastic dysarthria1PEX14 CL E G H5195772ORPHA14748856601791
HP:0001257HP:0002064Spastic gait1PEX14 CL E G H5195772ORPHA14748856601791
HP:0001257HP:0011099Spastic hemiparesis1PEX14 CL E G H5195772ORPHA14748856601791
HP:0001257HP:0001285Spastic tetraparesis1PEX14 CL E G H5195772ORPHA14748856601791
HP:0001257HP:0002510Spastic tetraplegia1PEX14 CL E G H5195772ORPHA14748856601791
HP:0001257HP:0002501Spasticity of pharyngeal muscles1PEX14 CL E G H5195772ORPHA14748856601791
HP:0001257HP:0006986Upper limb spasticity1PEX14 CL E G H5195772ORPHA14748856601791
HP:0001257HP:0002491Spasticity of facial muscles1PEX16 CL E G H9409772ORPHA14708857603360
HP:0001257HP:0031866Clasp-knife sign1PEX16 CL E G H9409772ORPHA14708857603360
HP:0001257HP:0002061Lower limb spasticity1PEX16 CL E G H9409772ORPHA14708857603360
HP:0001257HP:0002179Opisthotonus1PEX16 CL E G H9409772ORPHA14708857603360
HP:0001257HP:0002191Progressive spasticity1PEX16 CL E G H9409772ORPHA14708857603360
HP:0001257HP:0001264Spastic diplegia1PEX16 CL E G H9409772ORPHA14708857603360
HP:0001257HP:0002464Spastic dysarthria1PEX16 CL E G H9409772ORPHA14708857603360
HP:0001257HP:0002064Spastic gait1PEX16 CL E G H9409772ORPHA14708857603360
HP:0001257HP:0011099Spastic hemiparesis1PEX16 CL E G H9409772ORPHA14708857603360
HP:0001257HP:0001285Spastic tetraparesis1PEX16 CL E G H9409772ORPHA14708857603360
HP:0001257HP:0002510Spastic tetraplegia1PEX16 CL E G H9409772ORPHA14708857603360
HP:0001257HP:0002501Spasticity of pharyngeal muscles1PEX16 CL E G H9409772ORPHA14708857603360
HP:0001257HP:0006986Upper limb spasticity1PEX16 CL E G H9409772ORPHA14708857603360
HP:0001257HP:0002491Spasticity of facial muscles1PEX19 CL E G H5824772ORPHA13799713600279
HP:0001257HP:0031866Clasp-knife sign1PEX19 CL E G H5824772ORPHA13799713600279
HP:0001257HP:0002061Lower limb spasticity1PEX19 CL E G H5824772ORPHA13799713600279
HP:0001257HP:0002179Opisthotonus1PEX19 CL E G H5824772ORPHA13799713600279
HP:0001257HP:0002191Progressive spasticity1PEX19 CL E G H5824772ORPHA13799713600279
HP:0001257HP:0001264Spastic diplegia1PEX19 CL E G H5824772ORPHA13799713600279
HP:0001257HP:0002464Spastic dysarthria1PEX19 CL E G H5824772ORPHA13799713600279
HP:0001257HP:0002064Spastic gait1PEX19 CL E G H5824772ORPHA13799713600279
HP:0001257HP:0011099Spastic hemiparesis1PEX19 CL E G H5824772ORPHA13799713600279
HP:0001257HP:0001285Spastic tetraparesis1PEX19 CL E G H5824772ORPHA13799713600279
HP:0001257HP:0002510Spastic tetraplegia1PEX19 CL E G H5824772ORPHA13799713600279
HP:0001257HP:0002501Spasticity of pharyngeal muscles1PEX19 CL E G H5824772ORPHA13799713600279
HP:0001257HP:0006986Upper limb spasticity1PEX19 CL E G H5824772ORPHA13799713600279
HP:0001257HP:0002491Spasticity of facial muscles1PEX2 CL E G H5828772ORPHA14639717170993
HP:0001257HP:0031866Clasp-knife sign1PEX2 CL E G H5828772ORPHA14639717170993
HP:0001257HP:0002061Lower limb spasticity1PEX2 CL E G H5828772ORPHA14639717170993
HP:0001257HP:0002179Opisthotonus1PEX2 CL E G H5828772ORPHA14639717170993
HP:0001257HP:0002191Progressive spasticity1PEX2 CL E G H5828772ORPHA14639717170993
HP:0001257HP:0001264Spastic diplegia1PEX2 CL E G H5828772ORPHA14639717170993
HP:0001257HP:0002464Spastic dysarthria1PEX2 CL E G H5828772ORPHA14639717170993
HP:0001257HP:0002064Spastic gait1PEX2 CL E G H5828772ORPHA14639717170993
HP:0001257HP:0011099Spastic hemiparesis1PEX2 CL E G H5828772ORPHA14639717170993
HP:0001257HP:0001285Spastic tetraparesis1PEX2 CL E G H5828772ORPHA14639717170993
HP:0001257HP:0002510Spastic tetraplegia1PEX2 CL E G H5828772ORPHA14639717170993
HP:0001257HP:0002501Spasticity of pharyngeal muscles1PEX2 CL E G H5828772ORPHA14639717170993
HP:0001257HP:0006986Upper limb spasticity1PEX2 CL E G H5828772ORPHA14639717170993
HP:0001257HP:0002491Spasticity of facial muscles1PEX26 CL E G H55670772ORPHA152222965608666
HP:0001257HP:0031866Clasp-knife sign1PEX26 CL E G H55670772ORPHA152222965608666
HP:0001257HP:0002061Lower limb spasticity1PEX26 CL E G H55670772ORPHA152222965608666
HP:0001257HP:0002179Opisthotonus1PEX26 CL E G H55670772ORPHA152222965608666
HP:0001257HP:0002191Progressive spasticity1PEX26 CL E G H55670772ORPHA152222965608666
HP:0001257HP:0001264Spastic diplegia1PEX26 CL E G H55670772ORPHA152222965608666
HP:0001257HP:0002464Spastic dysarthria1PEX26 CL E G H55670772ORPHA152222965608666
HP:0001257HP:0002064Spastic gait1PEX26 CL E G H55670772ORPHA152222965608666
HP:0001257HP:0011099Spastic hemiparesis1PEX26 CL E G H55670772ORPHA152222965608666
HP:0001257HP:0001285Spastic tetraparesis1PEX26 CL E G H55670772ORPHA152222965608666
HP:0001257HP:0002510Spastic tetraplegia1PEX26 CL E G H55670772ORPHA152222965608666
HP:0001257HP:0002501Spasticity of pharyngeal muscles1PEX26 CL E G H55670772ORPHA152222965608666
HP:0001257HP:0006986Upper limb spasticity1PEX26 CL E G H55670772ORPHA152222965608666
HP:0001257HP:0002491Spasticity of facial muscles1PEX3 CL E G H8504772ORPHA13588858603164
HP:0001257HP:0031866Clasp-knife sign1PEX3 CL E G H8504772ORPHA13588858603164
HP:0001257HP:0002061Lower limb spasticity1PEX3 CL E G H8504772ORPHA13588858603164
HP:0001257HP:0002179Opisthotonus1PEX3 CL E G H8504772ORPHA13588858603164
HP:0001257HP:0002191Progressive spasticity1PEX3 CL E G H8504772ORPHA13588858603164
HP:0001257HP:0001264Spastic diplegia1PEX3 CL E G H8504772ORPHA13588858603164
HP:0001257HP:0002464Spastic dysarthria1PEX3 CL E G H8504772ORPHA13588858603164
HP:0001257HP:0002064Spastic gait1PEX3 CL E G H8504772ORPHA13588858603164
HP:0001257HP:0011099Spastic hemiparesis1PEX3 CL E G H8504772ORPHA13588858603164
HP:0001257HP:0001285Spastic tetraparesis1PEX3 CL E G H8504772ORPHA13588858603164
HP:0001257HP:0002510Spastic tetraplegia1PEX3 CL E G H8504772ORPHA13588858603164
HP:0001257HP:0002501Spasticity of pharyngeal muscles1PEX3 CL E G H8504772ORPHA13588858603164
HP:0001257HP:0006986Upper limb spasticity1PEX3 CL E G H8504772ORPHA13588858603164
HP:0001257HP:0002491Spasticity of facial muscles1PEX5 CL E G H5830772ORPHA18589719600414
HP:0001257HP:0031866Clasp-knife sign1PEX5 CL E G H5830772ORPHA18589719600414
HP:0001257HP:0002061Lower limb spasticity1PEX5 CL E G H5830772ORPHA18589719600414
HP:0001257HP:0002179Opisthotonus1PEX5 CL E G H5830772ORPHA18589719600414
HP:0001257HP:0002191Progressive spasticity1PEX5 CL E G H5830772ORPHA18589719600414
HP:0001257HP:0001264Spastic diplegia1PEX5 CL E G H5830772ORPHA18589719600414
HP:0001257HP:0002464Spastic dysarthria1PEX5 CL E G H5830772ORPHA18589719600414
HP:0001257HP:0002064Spastic gait1PEX5 CL E G H5830772ORPHA18589719600414
HP:0001257HP:0011099Spastic hemiparesis1PEX5 CL E G H5830772ORPHA18589719600414
HP:0001257HP:0001285Spastic tetraparesis1PEX5 CL E G H5830772ORPHA18589719600414
HP:0001257HP:0002510Spastic tetraplegia1PEX5 CL E G H5830772ORPHA18589719600414
HP:0001257HP:0002501Spasticity of pharyngeal muscles1PEX5 CL E G H5830772ORPHA18589719600414
HP:0001257HP:0006986Upper limb spasticity1PEX5 CL E G H5830772ORPHA18589719600414
HP:0001257HP:0002491Spasticity of facial muscles1PEX6 CL E G H5190772ORPHA114588859601498
HP:0001257HP:0031866Clasp-knife sign1PEX6 CL E G H5190772ORPHA114588859601498
HP:0001257HP:0002061Lower limb spasticity1PEX6 CL E G H5190772ORPHA114588859601498
HP:0001257HP:0002179Opisthotonus1PEX6 CL E G H5190772ORPHA114588859601498
HP:0001257HP:0002191Progressive spasticity1PEX6 CL E G H5190772ORPHA114588859601498
HP:0001257HP:0001264Spastic diplegia1PEX6 CL E G H5190772ORPHA114588859601498
HP:0001257HP:0002464Spastic dysarthria1PEX6 CL E G H5190772ORPHA114588859601498
HP:0001257HP:0002064Spastic gait1PEX6 CL E G H5190772ORPHA114588859601498
HP:0001257HP:0011099Spastic hemiparesis1PEX6 CL E G H5190772ORPHA114588859601498
HP:0001257HP:0001285Spastic tetraparesis1PEX6 CL E G H5190772ORPHA114588859601498
HP:0001257HP:0002510Spastic tetraplegia1PEX6 CL E G H5190772ORPHA114588859601498
HP:0001257HP:0002501Spasticity of pharyngeal muscles1PEX6 CL E G H5190772ORPHA114588859601498
HP:0001257HP:0006986Upper limb spasticity1PEX6 CL E G H5190772ORPHA114588859601498
HP:0001257HP:0002491Spasticity of facial muscles1PEX7 CL E G H5191215100Rhizomelic chondrodysplasia punctata type 1215100C1859133OMIM15508860601757
HP:0001257HP:0031866Clasp-knife sign1PEX7 CL E G H5191215100Rhizomelic chondrodysplasia punctata type 1215100C1859133OMIM15508860601757
HP:0001257HP:0002061Lower limb spasticity1PEX7 CL E G H5191215100Rhizomelic chondrodysplasia punctata type 1215100C1859133OMIM15508860601757
HP:0001257HP:0002179Opisthotonus1PEX7 CL E G H5191215100Rhizomelic chondrodysplasia punctata type 1215100C1859133OMIM15508860601757
HP:0001257HP:0002191Progressive spasticity1PEX7 CL E G H5191215100Rhizomelic chondrodysplasia punctata type 1215100C1859133OMIM15508860601757
HP:0001257HP:0001264Spastic diplegia1PEX7 CL E G H5191215100Rhizomelic chondrodysplasia punctata type 1215100C1859133OMIM15508860601757
HP:0001257HP:0002464Spastic dysarthria1PEX7 CL E G H5191215100Rhizomelic chondrodysplasia punctata type 1215100C1859133OMIM15508860601757
HP:0001257HP:0002064Spastic gait1PEX7 CL E G H5191215100Rhizomelic chondrodysplasia punctata type 1215100C1859133OMIM15508860601757
HP:0001257HP:0011099Spastic hemiparesis1PEX7 CL E G H5191215100Rhizomelic chondrodysplasia punctata type 1215100C1859133OMIM15508860601757
HP:0001257HP:0001285Spastic tetraparesis1PEX7 CL E G H5191215100Rhizomelic chondrodysplasia punctata type 1215100C1859133OMIM15508860601757
HP:0001257HP:0002510Spastic tetraplegia1PEX7 CL E G H5191215100Rhizomelic chondrodysplasia punctata type 1215100C1859133OMIM15508860601757
HP:0001257HP:0002501Spasticity of pharyngeal muscles1PEX7 CL E G H5191215100Rhizomelic chondrodysplasia punctata type 1215100C1859133OMIM15508860601757
HP:0001257HP:0006986Upper limb spasticity1PEX7 CL E G H5191215100Rhizomelic chondrodysplasia punctata type 1215100C1859133OMIM15508860601757
HP:0001257HP:0002491Spasticity of facial muscles1PFN1 CL E G H5216803ORPHA11018881176610
HP:0001257HP:0031866Clasp-knife sign1PFN1 CL E G H5216803ORPHA11018881176610
HP:0001257HP:0002061Lower limb spasticity1PFN1 CL E G H5216803ORPHA11018881176610
HP:0001257HP:0002179Opisthotonus1PFN1 CL E G H5216803ORPHA11018881176610
HP:0001257HP:0002191Progressive spasticity1PFN1 CL E G H5216803ORPHA11018881176610
HP:0001257HP:0001264Spastic diplegia1PFN1 CL E G H5216803ORPHA11018881176610
HP:0001257HP:0002464Spastic dysarthria1PFN1 CL E G H5216803ORPHA11018881176610
HP:0001257HP:0002064Spastic gait1PFN1 CL E G H5216803ORPHA11018881176610
HP:0001257HP:0011099Spastic hemiparesis1PFN1 CL E G H5216803ORPHA11018881176610
HP:0001257HP:0001285Spastic tetraparesis1PFN1 CL E G H5216803ORPHA11018881176610
HP:0001257HP:0002510Spastic tetraplegia1PFN1 CL E G H5216803ORPHA11018881176610
HP:0001257HP:0002501Spasticity of pharyngeal muscles1PFN1 CL E G H5216803ORPHA11018881176610
HP:0001257HP:0006986Upper limb spasticity1PFN1 CL E G H5216803ORPHA11018881176610
HP:0001257HP:0002491Spasticity of facial muscles1PFN1 CL E G H5216614808Amyotrophic lateral sclerosis 18614808C3553719OMIM11018881176610
HP:0001257HP:0031866Clasp-knife sign1PFN1 CL E G H5216614808Amyotrophic lateral sclerosis 18614808C3553719OMIM11018881176610
HP:0001257HP:0002061Lower limb spasticity1PFN1 CL E G H5216614808Amyotrophic lateral sclerosis 18614808C3553719OMIM11018881176610
HP:0001257HP:0002179Opisthotonus1PFN1 CL E G H5216614808Amyotrophic lateral sclerosis 18614808C3553719OMIM11018881176610
HP:0001257HP:0002191Progressive spasticity1PFN1 CL E G H5216614808Amyotrophic lateral sclerosis 18614808C3553719OMIM11018881176610
HP:0001257HP:0001264Spastic diplegia1PFN1 CL E G H5216614808Amyotrophic lateral sclerosis 18614808C3553719OMIM11018881176610
HP:0001257HP:0002464Spastic dysarthria1PFN1 CL E G H5216614808Amyotrophic lateral sclerosis 18614808C3553719OMIM11018881176610
HP:0001257HP:0002064Spastic gait1PFN1 CL E G H5216614808Amyotrophic lateral sclerosis 18614808C3553719OMIM11018881176610
HP:0001257HP:0011099Spastic hemiparesis1PFN1 CL E G H5216614808Amyotrophic lateral sclerosis 18614808C3553719OMIM11018881176610
HP:0001257HP:0001285Spastic tetraparesis1PFN1 CL E G H5216614808Amyotrophic lateral sclerosis 18614808C3553719OMIM11018881176610
HP:0001257HP:0002510Spastic tetraplegia1PFN1 CL E G H5216614808Amyotrophic lateral sclerosis 18614808C3553719OMIM11018881176610
HP:0001257HP:0002501Spasticity of pharyngeal muscles1PFN1 CL E G H5216614808Amyotrophic lateral sclerosis 18614808C3553719OMIM11018881176610
HP:0001257HP:0006986Upper limb spasticity1PFN1 CL E G H5216614808Amyotrophic lateral sclerosis 18614808C3553719OMIM11018881176610
HP:0001257HP:0002491Spasticity of facial muscles1PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM14838957311770
HP:0001257HP:0031866Clasp-knife sign1PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM14838957311770
HP:0001257HP:0002061Lower limb spasticity1PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM14838957311770
HP:0001257HP:0002179Opisthotonus1PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM14838957311770
HP:0001257HP:0002191Progressive spasticity1PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM14838957311770
HP:0001257HP:0001264Spastic diplegia1PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM14838957311770
HP:0001257HP:0002464Spastic dysarthria1PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM14838957311770
HP:0001257HP:0002064Spastic gait1PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM14838957311770
HP:0001257HP:0011099Spastic hemiparesis1PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM14838957311770
HP:0001257HP:0001285Spastic tetraparesis1PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM14838957311770
HP:0001257HP:0002510Spastic tetraplegia1PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM14838957311770
HP:0001257HP:0002501Spasticity of pharyngeal muscles1PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM14838957311770
HP:0001257HP:0006986Upper limb spasticity1PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM14838957311770
HP:0001257HP:0002491Spasticity of facial muscles1PIGN CL E G H23556614080Multiple congenital anomalies-hypotonia-seizures syndrome 1614080C3279775OMIM110108967606097
HP:0001257HP:0031866Clasp-knife sign1PIGN CL E G H23556614080Multiple congenital anomalies-hypotonia-seizures syndrome 1614080C3279775OMIM110108967606097
HP:0001257HP:0002061Lower limb spasticity1PIGN CL E G H23556614080Multiple congenital anomalies-hypotonia-seizures syndrome 1614080C3279775OMIM110108967606097
HP:0001257HP:0002179Opisthotonus1PIGN CL E G H23556614080Multiple congenital anomalies-hypotonia-seizures syndrome 1614080C3279775OMIM110108967606097
HP:0001257HP:0002191Progressive spasticity1PIGN CL E G H23556614080Multiple congenital anomalies-hypotonia-seizures syndrome 1614080C3279775OMIM110108967606097
HP:0001257HP:0001264Spastic diplegia1PIGN CL E G H23556614080Multiple congenital anomalies-hypotonia-seizures syndrome 1614080C3279775OMIM110108967606097
HP:0001257HP:0002464Spastic dysarthria1PIGN CL E G H23556614080Multiple congenital anomalies-hypotonia-seizures syndrome 1614080C3279775OMIM110108967606097
HP:0001257HP:0002064Spastic gait1PIGN CL E G H23556614080Multiple congenital anomalies-hypotonia-seizures syndrome 1614080C3279775OMIM110108967606097
HP:0001257HP:0011099Spastic hemiparesis1PIGN CL E G H23556614080Multiple congenital anomalies-hypotonia-seizures syndrome 1614080C3279775OMIM110108967606097
HP:0001257HP:0001285Spastic tetraparesis1PIGN CL E G H23556614080Multiple congenital anomalies-hypotonia-seizures syndrome 1614080C3279775OMIM110108967606097
HP:0001257HP:0002510Spastic tetraplegia1PIGN CL E G H23556614080Multiple congenital anomalies-hypotonia-seizures syndrome 1614080C3279775OMIM110108967606097
HP:0001257HP:0002501Spasticity of pharyngeal muscles1PIGN CL E G H23556614080Multiple congenital anomalies-hypotonia-seizures syndrome 1614080C3279775OMIM110108967606097
HP:0001257HP:0006986Upper limb spasticity1PIGN CL E G H23556614080Multiple congenital anomalies-hypotonia-seizures syndrome 1614080C3279775OMIM110108967606097
HP:0001257HP:0002491Spasticity of facial muscles1PLA2G6 CL E G H8398199351ORPHA17759039603604
HP:0001257HP:0031866Clasp-knife sign1PLA2G6 CL E G H8398199351ORPHA17759039603604
HP:0001257HP:0002061Lower limb spasticity1PLA2G6 CL E G H8398199351ORPHA17759039603604
HP:0001257HP:0002179Opisthotonus1PLA2G6 CL E G H8398199351ORPHA17759039603604
HP:0001257HP:0002191Progressive spasticity1PLA2G6 CL E G H8398199351ORPHA17759039603604
HP:0001257HP:0001264Spastic diplegia1PLA2G6 CL E G H8398199351ORPHA17759039603604
HP:0001257HP:0002464Spastic dysarthria1PLA2G6 CL E G H8398199351ORPHA17759039603604
HP:0001257HP:0002064Spastic gait1PLA2G6 CL E G H8398199351ORPHA17759039603604
HP:0001257HP:0011099Spastic hemiparesis1PLA2G6 CL E G H8398199351ORPHA17759039603604
HP:0001257HP:0001285Spastic tetraparesis1PLA2G6 CL E G H8398199351ORPHA17759039603604
HP:0001257HP:0002510Spastic tetraplegia1PLA2G6 CL E G H8398199351ORPHA17759039603604
HP:0001257HP:0002501Spasticity of pharyngeal muscles1PLA2G6 CL E G H8398199351ORPHA17759039603604
HP:0001257HP:0006986Upper limb spasticity1PLA2G6 CL E G H8398199351ORPHA17759039603604
HP:0001257HP:0002491Spasticity of facial muscles1PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001257HP:0031866Clasp-knife sign1PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001257HP:0002061Lower limb spasticity1PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001257HP:0002179Opisthotonus1PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001257HP:0002191Progressive spasticity1PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001257HP:0001264Spastic diplegia1PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001257HP:0002464Spastic dysarthria1PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001257HP:0002064Spastic gait1PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001257HP:0011099Spastic hemiparesis1PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001257HP:0001285Spastic tetraparesis1PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001257HP:0002510Spastic tetraplegia1PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001257HP:0002501Spasticity of pharyngeal muscles1PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001257HP:0006986Upper limb spasticity1PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001257HP:0002491Spasticity of facial muscles1PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM17759039603604
HP:0001257HP:0031866Clasp-knife sign1PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM17759039603604
HP:0001257HP:0002061Lower limb spasticity1PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM17759039603604
HP:0001257HP:0002179Opisthotonus1PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM17759039603604
HP:0001257HP:0002191Progressive spasticity1PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM17759039603604
HP:0001257HP:0001264Spastic diplegia1PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM17759039603604
HP:0001257HP:0002464Spastic dysarthria1PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM17759039603604
HP:0001257HP:0002064Spastic gait1PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM17759039603604
HP:0001257HP:0011099Spastic hemiparesis1PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM17759039603604
HP:0001257HP:0001285Spastic tetraparesis1PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM17759039603604
HP:0001257HP:0002510Spastic tetraplegia1PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM17759039603604
HP:0001257HP:0002501Spasticity of pharyngeal muscles1PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM17759039603604
HP:0001257HP:0006986Upper limb spasticity1PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM17759039603604
HP:0001257HP:0002491Spasticity of facial muscles1PLCB1 CL E G H23236613722Early infantile epileptic encephalopathy 12613722C3150988OMIM1110715917607120
HP:0001257HP:0031866Clasp-knife sign1PLCB1 CL E G H23236613722Early infantile epileptic encephalopathy 12613722C3150988OMIM1110715917607120
HP:0001257HP:0002061Lower limb spasticity1PLCB1 CL E G H23236613722Early infantile epileptic encephalopathy 12613722C3150988OMIM1110715917607120
HP:0001257HP:0002179Opisthotonus1PLCB1 CL E G H23236613722Early infantile epileptic encephalopathy 12613722C3150988OMIM1110715917607120
HP:0001257HP:0002191Progressive spasticity1PLCB1 CL E G H23236613722Early infantile epileptic encephalopathy 12613722C3150988OMIM1110715917607120
HP:0001257HP:0001264Spastic diplegia1PLCB1 CL E G H23236613722Early infantile epileptic encephalopathy 12613722C3150988OMIM1110715917607120
HP:0001257HP:0002464Spastic dysarthria1PLCB1 CL E G H23236613722Early infantile epileptic encephalopathy 12613722C3150988OMIM1110715917607120
HP:0001257HP:0002064Spastic gait1PLCB1 CL E G H23236613722Early infantile epileptic encephalopathy 12613722C3150988OMIM1110715917607120
HP:0001257HP:0011099Spastic hemiparesis1PLCB1 CL E G H23236613722Early infantile epileptic encephalopathy 12613722C3150988OMIM1110715917607120
HP:0001257HP:0001285Spastic tetraparesis1PLCB1 CL E G H23236613722Early infantile epileptic encephalopathy 12613722C3150988OMIM1110715917607120
HP:0001257HP:0002510Spastic tetraplegia1PLCB1 CL E G H23236613722Early infantile epileptic encephalopathy 12613722C3150988OMIM1110715917607120
HP:0001257HP:0002501Spasticity of pharyngeal muscles1PLCB1 CL E G H23236613722Early infantile epileptic encephalopathy 12613722C3150988OMIM1110715917607120
HP:0001257HP:0006986Upper limb spasticity1PLCB1 CL E G H23236613722Early infantile epileptic encephalopathy 12613722C3150988OMIM1110715917607120
HP:0001257HP:0002491Spasticity of facial muscles1PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM120518667613036
HP:0001257HP:0031866Clasp-knife sign1PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM120518667613036
HP:0001257HP:0002061Lower limb spasticity1PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM120518667613036
HP:0001257HP:0002179Opisthotonus1PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM120518667613036
HP:0001257HP:0002191Progressive spasticity1PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM120518667613036
HP:0001257HP:0001264Spastic diplegia1PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM120518667613036
HP:0001257HP:0002464Spastic dysarthria1PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM120518667613036
HP:0001257HP:0002064Spastic gait1PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM120518667613036
HP:0001257HP:0011099Spastic hemiparesis1PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM120518667613036
HP:0001257HP:0001285Spastic tetraparesis1PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM120518667613036
HP:0001257HP:0002510Spastic tetraplegia1PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM120518667613036
HP:0001257HP:0002501Spasticity of pharyngeal muscles1PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM120518667613036
HP:0001257HP:0006986Upper limb spasticity1PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM120518667613036
HP:0001257HP:0002491Spasticity of facial muscles1PMPCB CL E G H9512617954MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6617954CN244567OMIM11339119603131
HP:0001257HP:0031866Clasp-knife sign1PMPCB CL E G H9512617954MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6617954CN244567OMIM11339119603131
HP:0001257HP:0002061Lower limb spasticity1PMPCB CL E G H9512617954MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6617954CN244567OMIM11339119603131
HP:0001257HP:0002179Opisthotonus1PMPCB CL E G H9512617954MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6617954CN244567OMIM11339119603131
HP:0001257HP:0002191Progressive spasticity1PMPCB CL E G H9512617954MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6617954CN244567OMIM11339119603131
HP:0001257HP:0001264Spastic diplegia1PMPCB CL E G H9512617954MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6617954CN244567OMIM11339119603131
HP:0001257HP:0002464Spastic dysarthria1PMPCB CL E G H9512617954MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6617954CN244567OMIM11339119603131
HP:0001257HP:0002064Spastic gait1PMPCB CL E G H9512617954MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6617954CN244567OMIM11339119603131
HP:0001257HP:0011099Spastic hemiparesis1PMPCB CL E G H9512617954MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6617954CN244567OMIM11339119603131
HP:0001257HP:0001285Spastic tetraparesis1PMPCB CL E G H9512617954MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6617954CN244567OMIM11339119603131
HP:0001257HP:0002510Spastic tetraplegia1PMPCB CL E G H9512617954MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6617954CN244567OMIM11339119603131
HP:0001257HP:0002501Spasticity of pharyngeal muscles1PMPCB CL E G H9512617954MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6617954CN244567OMIM11339119603131
HP:0001257HP:0006986Upper limb spasticity1PMPCB CL E G H9512617954MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6617954CN244567OMIM11339119603131
HP:0001257HP:0002491Spasticity of facial muscles1PNPLA8 CL E G H50640251950Mitochondrial myopathy with lactic acidosis251950C1855033OMIM127128900612123
HP:0001257HP:0031866Clasp-knife sign1PNPLA8 CL E G H50640251950Mitochondrial myopathy with lactic acidosis251950C1855033OMIM127128900612123
HP:0001257HP:0002061Lower limb spasticity1PNPLA8 CL E G H50640251950Mitochondrial myopathy with lactic acidosis251950C1855033OMIM127128900612123
HP:0001257HP:0002179Opisthotonus1PNPLA8 CL E G H50640251950Mitochondrial myopathy with lactic acidosis251950C1855033OMIM127128900612123
HP:0001257HP:0002191Progressive spasticity1PNPLA8 CL E G H50640251950Mitochondrial myopathy with lactic acidosis251950C1855033OMIM127128900612123
HP:0001257HP:0001264Spastic diplegia1PNPLA8 CL E G H50640251950Mitochondrial myopathy with lactic acidosis251950C1855033OMIM127128900612123
HP:0001257HP:0002464Spastic dysarthria1PNPLA8 CL E G H50640251950Mitochondrial myopathy with lactic acidosis251950C1855033OMIM127128900612123
HP:0001257HP:0002064Spastic gait1PNPLA8 CL E G H50640251950Mitochondrial myopathy with lactic acidosis251950C1855033OMIM127128900612123
HP:0001257HP:0011099Spastic hemiparesis1PNPLA8 CL E G H50640251950Mitochondrial myopathy with lactic acidosis251950C1855033OMIM127128900612123
HP:0001257HP:0001285Spastic tetraparesis1PNPLA8 CL E G H50640251950Mitochondrial myopathy with lactic acidosis251950C1855033OMIM127128900612123
HP:0001257HP:0002510Spastic tetraplegia1PNPLA8 CL E G H50640251950Mitochondrial myopathy with lactic acidosis251950C1855033OMIM127128900612123
HP:0001257HP:0002501Spasticity of pharyngeal muscles1PNPLA8 CL E G H50640251950Mitochondrial myopathy with lactic acidosis251950C1855033OMIM127128900612123
HP:0001257HP:0006986Upper limb spasticity1PNPLA8 CL E G H50640251950Mitochondrial myopathy with lactic acidosis251950C1855033OMIM127128900612123
HP:0001257HP:0002491Spasticity of facial muscles1POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM1102530074614258
HP:0001257HP:0031866Clasp-knife sign1POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM1102530074614258
HP:0001257HP:0002061Lower limb spasticity1POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM1102530074614258
HP:0001257HP:0002179Opisthotonus1POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM1102530074614258
HP:0001257HP:0002191Progressive spasticity1POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM1102530074614258
HP:0001257HP:0001264Spastic diplegia1POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM1102530074614258
HP:0001257HP:0002464Spastic dysarthria1POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM1102530074614258
HP:0001257HP:0002064Spastic gait1POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM1102530074614258
HP:0001257HP:0011099Spastic hemiparesis1POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM1102530074614258
HP:0001257HP:0001285Spastic tetraparesis1POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM1102530074614258
HP:0001257HP:0002510Spastic tetraplegia1POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM1102530074614258
HP:0001257HP:0002501Spasticity of pharyngeal muscles1POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM1102530074614258
HP:0001257HP:0006986Upper limb spasticity1POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM1102530074614258
HP:0001257HP:0002491Spasticity of facial muscles1POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM151030348614366
HP:0001257HP:0031866Clasp-knife sign1POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM151030348614366
HP:0001257HP:0002061Lower limb spasticity1POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM151030348614366
HP:0001257HP:0002179Opisthotonus1POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM151030348614366
HP:0001257HP:0002191Progressive spasticity1POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM151030348614366
HP:0001257HP:0001264Spastic diplegia1POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM151030348614366
HP:0001257HP:0002464Spastic dysarthria1POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM151030348614366
HP:0001257HP:0002064Spastic gait1POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM151030348614366
HP:0001257HP:0011099Spastic hemiparesis1POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM151030348614366
HP:0001257HP:0001285Spastic tetraparesis1POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM151030348614366
HP:0001257HP:0002510Spastic tetraplegia1POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM151030348614366
HP:0001257HP:0002501Spasticity of pharyngeal muscles1POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM151030348614366
HP:0001257HP:0006986Upper limb spasticity1POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM151030348614366
HP:0001257HP:0002491Spasticity of facial muscles1POLR3B CL E G H55703614381Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism614381C3280644OMIM151030348614366
HP:0001257HP:0031866Clasp-knife sign1POLR3B CL E G H55703614381Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism614381C3280644OMIM151030348614366
HP:0001257HP:0002061Lower limb spasticity1POLR3B CL E G H55703614381Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism614381C3280644OMIM151030348614366
HP:0001257HP:0002179Opisthotonus1POLR3B CL E G H55703614381Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism614381C3280644OMIM151030348614366
HP:0001257HP:0002191Progressive spasticity1POLR3B CL E G H55703614381Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism614381C3280644OMIM151030348614366
HP:0001257HP:0001264Spastic diplegia1POLR3B CL E G H55703614381Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism614381C3280644OMIM151030348614366
HP:0001257HP:0002464Spastic dysarthria1POLR3B CL E G H55703614381Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism614381C3280644OMIM151030348614366
HP:0001257HP:0002064Spastic gait1POLR3B CL E G H55703614381Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism614381C3280644OMIM151030348614366
HP:0001257HP:0011099Spastic hemiparesis1POLR3B CL E G H55703614381Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism614381C3280644OMIM151030348614366
HP:0001257HP:0001285Spastic tetraparesis1POLR3B CL E G H55703614381Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism614381C3280644OMIM151030348614366
HP:0001257HP:0002510Spastic tetraplegia1POLR3B CL E G H55703614381Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism614381C3280644OMIM151030348614366
HP:0001257HP:0002501Spasticity of pharyngeal muscles1POLR3B CL E G H55703614381Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism614381C3280644OMIM151030348614366
HP:0001257HP:0006986Upper limb spasticity1POLR3B CL E G H55703614381Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism614381C3280644OMIM151030348614366
HP:0001257HP:0002491Spasticity of facial muscles1POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM1117419139606822
HP:0001257HP:0031866Clasp-knife sign1POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM1117419139606822
HP:0001257HP:0002061Lower limb spasticity1POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM1117419139606822
HP:0001257HP:0002179Opisthotonus1POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM1117419139606822
HP:0001257HP:0002191Progressive spasticity1POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM1117419139606822
HP:0001257HP:0001264Spastic diplegia1POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM1117419139606822
HP:0001257HP:0002464Spastic dysarthria1POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM1117419139606822
HP:0001257HP:0002064Spastic gait1POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM1117419139606822
HP:0001257HP:0011099Spastic hemiparesis1POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM1117419139606822
HP:0001257HP:0001285Spastic tetraparesis1POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM1117419139606822
HP:0001257HP:0002510Spastic tetraplegia1POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM1117419139606822
HP:0001257HP:0002501Spasticity of pharyngeal muscles1POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM1117419139606822
HP:0001257HP:0006986Upper limb spasticity1POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM1117419139606822
HP:0001257HP:0002491Spasticity of facial muscles1PON1 CL E G H5444803ORPHA1659204168820
HP:0001257HP:0031866Clasp-knife sign1PON1 CL E G H5444803ORPHA1659204168820
HP:0001257HP:0002061Lower limb spasticity1PON1 CL E G H5444803ORPHA1659204168820
HP:0001257HP:0002179Opisthotonus1PON1 CL E G H5444803ORPHA1659204168820
HP:0001257HP:0002191Progressive spasticity1PON1 CL E G H5444803ORPHA1659204168820
HP:0001257HP:0001264Spastic diplegia1PON1 CL E G H5444803ORPHA1659204168820
HP:0001257HP:0002464Spastic dysarthria1PON1 CL E G H5444803ORPHA1659204168820
HP:0001257HP:0002064Spastic gait1PON1 CL E G H5444803ORPHA1659204168820
HP:0001257HP:0011099Spastic hemiparesis1PON1 CL E G H5444803ORPHA1659204168820
HP:0001257HP:0001285Spastic tetraparesis1PON1 CL E G H5444803ORPHA1659204168820
HP:0001257HP:0002510Spastic tetraplegia1PON1 CL E G H5444803ORPHA1659204168820
HP:0001257HP:0002501Spasticity of pharyngeal muscles1PON1 CL E G H5444803ORPHA1659204168820
HP:0001257HP:0006986Upper limb spasticity1PON1 CL E G H5444803ORPHA1659204168820
HP:0001257HP:0002491Spasticity of facial muscles1PON2 CL E G H5445803ORPHA1689205602447
HP:0001257HP:0031866Clasp-knife sign1PON2 CL E G H5445803ORPHA1689205602447
HP:0001257HP:0002061Lower limb spasticity1PON2 CL E G H5445803ORPHA1689205602447
HP:0001257HP:0002179Opisthotonus1PON2 CL E G H5445803ORPHA1689205602447
HP:0001257HP:0002191Progressive spasticity1PON2 CL E G H5445803ORPHA1689205602447
HP:0001257HP:0001264Spastic diplegia1PON2 CL E G H5445803ORPHA1689205602447
HP:0001257HP:0002464Spastic dysarthria1PON2 CL E G H5445803ORPHA1689205602447
HP:0001257HP:0002064Spastic gait1PON2 CL E G H5445803ORPHA1689205602447
HP:0001257HP:0011099Spastic hemiparesis1PON2 CL E G H5445803ORPHA1689205602447
HP:0001257HP:0001285Spastic tetraparesis1PON2 CL E G H5445803ORPHA1689205602447
HP:0001257HP:0002510Spastic tetraplegia1PON2 CL E G H5445803ORPHA1689205602447
HP:0001257HP:0002501Spasticity of pharyngeal muscles1PON2 CL E G H5445803ORPHA1689205602447
HP:0001257HP:0006986Upper limb spasticity1PON2 CL E G H5445803ORPHA1689205602447
HP:0001257HP:0002491Spasticity of facial muscles1PON3 CL E G H5446803ORPHA1629206602720
HP:0001257HP:0031866Clasp-knife sign1PON3 CL E G H5446803ORPHA1629206602720
HP:0001257HP:0002061Lower limb spasticity1PON3 CL E G H5446803ORPHA1629206602720
HP:0001257HP:0002179Opisthotonus1PON3 CL E G H5446803ORPHA1629206602720
HP:0001257HP:0002191Progressive spasticity1PON3 CL E G H5446803ORPHA1629206602720
HP:0001257HP:0001264Spastic diplegia1PON3 CL E G H5446803ORPHA1629206602720
HP:0001257HP:0002464Spastic dysarthria1PON3 CL E G H5446803ORPHA1629206602720
HP:0001257HP:0002064Spastic gait1PON3 CL E G H5446803ORPHA1629206602720
HP:0001257HP:0011099Spastic hemiparesis1PON3 CL E G H5446803ORPHA1629206602720
HP:0001257HP:0001285Spastic tetraparesis1PON3 CL E G H5446803ORPHA1629206602720
HP:0001257HP:0002510Spastic tetraplegia1PON3 CL E G H5446803ORPHA1629206602720
HP:0001257HP:0002501Spasticity of pharyngeal muscles1PON3 CL E G H5446803ORPHA1629206602720
HP:0001257HP:0006986Upper limb spasticity1PON3 CL E G H5446803ORPHA1629206602720
HP:0001257HP:0002491Spasticity of facial muscles1PPARGC1A CL E G H10891803ORPHA1719237604517
HP:0001257HP:0031866Clasp-knife sign1PPARGC1A CL E G H10891803ORPHA1719237604517
HP:0001257HP:0002061Lower limb spasticity1PPARGC1A CL E G H10891803ORPHA1719237604517
HP:0001257HP:0002179Opisthotonus1PPARGC1A CL E G H10891803ORPHA1719237604517
HP:0001257HP:0002191Progressive spasticity1PPARGC1A CL E G H10891803ORPHA1719237604517
HP:0001257HP:0001264Spastic diplegia1PPARGC1A CL E G H10891803ORPHA1719237604517
HP:0001257HP:0002464Spastic dysarthria1PPARGC1A CL E G H10891803ORPHA1719237604517
HP:0001257HP:0002064Spastic gait1PPARGC1A CL E G H10891803ORPHA1719237604517
HP:0001257HP:0011099Spastic hemiparesis1PPARGC1A CL E G H10891803ORPHA1719237604517
HP:0001257HP:0001285Spastic tetraparesis1PPARGC1A CL E G H10891803ORPHA1719237604517
HP:0001257HP:0002510Spastic tetraplegia1PPARGC1A CL E G H10891803ORPHA1719237604517
HP:0001257HP:0002501Spasticity of pharyngeal muscles1PPARGC1A CL E G H10891803ORPHA1719237604517
HP:0001257HP:0006986Upper limb spasticity1PPARGC1A CL E G H10891803ORPHA1719237604517
HP:0001257HP:0002491Spasticity of facial muscles1PPP1R15B CL E G H84919616817Microcephaly, short stature, and impaired glucose metabolism 2616817C4225195OMIM113414951613257
HP:0001257HP:0031866Clasp-knife sign1PPP1R15B CL E G H84919616817Microcephaly, short stature, and impaired glucose metabolism 2616817C4225195OMIM113414951613257
HP:0001257HP:0002061Lower limb spasticity1PPP1R15B CL E G H84919616817Microcephaly, short stature, and impaired glucose metabolism 2616817C4225195OMIM113414951613257
HP:0001257HP:0002179Opisthotonus1PPP1R15B CL E G H84919616817Microcephaly, short stature, and impaired glucose metabolism 2616817C4225195OMIM113414951613257
HP:0001257HP:0002191Progressive spasticity1PPP1R15B CL E G H84919616817Microcephaly, short stature, and impaired glucose metabolism 2616817C4225195OMIM113414951613257
HP:0001257HP:0001264Spastic diplegia1PPP1R15B CL E G H84919616817Microcephaly, short stature, and impaired glucose metabolism 2616817C4225195OMIM113414951613257
HP:0001257HP:0002464Spastic dysarthria1PPP1R15B CL E G H84919616817Microcephaly, short stature, and impaired glucose metabolism 2616817C4225195OMIM113414951613257
HP:0001257HP:0002064Spastic gait1PPP1R15B CL E G H84919616817Microcephaly, short stature, and impaired glucose metabolism 2616817C4225195OMIM113414951613257
HP:0001257HP:0011099Spastic hemiparesis1PPP1R15B CL E G H84919616817Microcephaly, short stature, and impaired glucose metabolism 2616817C4225195OMIM113414951613257
HP:0001257HP:0001285Spastic tetraparesis1PPP1R15B CL E G H84919616817Microcephaly, short stature, and impaired glucose metabolism 2616817C4225195OMIM113414951613257
HP:0001257HP:0002510Spastic tetraplegia1PPP1R15B CL E G H84919616817Microcephaly, short stature, and impaired glucose metabolism 2616817C4225195OMIM113414951613257
HP:0001257HP:0002501Spasticity of pharyngeal muscles1PPP1R15B CL E G H84919616817Microcephaly, short stature, and impaired glucose metabolism 2616817C4225195OMIM113414951613257
HP:0001257HP:0006986Upper limb spasticity1PPP1R15B CL E G H84919616817Microcephaly, short stature, and impaired glucose metabolism 2616817C4225195OMIM113414951613257
HP:0001257HP:0002491Spasticity of facial muscles1PPT1 CL E G H5538256730Ceroid lipofuscinosis neuronal 1256730C1850451OMIM16179325600722
HP:0001257HP:0031866Clasp-knife sign1PPT1 CL E G H5538256730Ceroid lipofuscinosis neuronal 1256730C1850451OMIM16179325600722
HP:0001257HP:0002061Lower limb spasticity1PPT1 CL E G H5538256730Ceroid lipofuscinosis neuronal 1256730C1850451OMIM16179325600722
HP:0001257HP:0002179Opisthotonus1PPT1 CL E G H5538256730Ceroid lipofuscinosis neuronal 1256730C1850451OMIM16179325600722
HP:0001257HP:0002191Progressive spasticity1PPT1 CL E G H5538256730Ceroid lipofuscinosis neuronal 1256730C1850451OMIM16179325600722
HP:0001257HP:0001264Spastic diplegia1PPT1 CL E G H5538256730Ceroid lipofuscinosis neuronal 1256730C1850451OMIM16179325600722
HP:0001257HP:0002464Spastic dysarthria1PPT1 CL E G H5538256730Ceroid lipofuscinosis neuronal 1256730C1850451OMIM16179325600722
HP:0001257HP:0002064Spastic gait1PPT1 CL E G H5538256730Ceroid lipofuscinosis neuronal 1256730C1850451OMIM16179325600722
HP:0001257HP:0011099Spastic hemiparesis1PPT1 CL E G H5538256730Ceroid lipofuscinosis neuronal 1256730C1850451OMIM16179325600722
HP:0001257HP:0001285Spastic tetraparesis1PPT1 CL E G H5538256730Ceroid lipofuscinosis neuronal 1256730C1850451OMIM16179325600722
HP:0001257HP:0002510Spastic tetraplegia1PPT1 CL E G H5538256730Ceroid lipofuscinosis neuronal 1256730C1850451OMIM16179325600722
HP:0001257HP:0002501Spasticity of pharyngeal muscles1PPT1 CL E G H5538256730Ceroid lipofuscinosis neuronal 1256730C1850451OMIM16179325600722
HP:0001257HP:0006986Upper limb spasticity1PPT1 CL E G H5538256730Ceroid lipofuscinosis neuronal 1256730C1850451OMIM16179325600722
HP:0001257HP:0002491Spasticity of facial muscles1PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM13099330300463
HP:0001257HP:0031866Clasp-knife sign1PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM13099330300463
HP:0001257HP:0002061Lower limb spasticity1PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM13099330300463
HP:0001257HP:0002179Opisthotonus1PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM13099330300463
HP:0001257HP:0002191Progressive spasticity1PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM13099330300463
HP:0001257HP:0001264Spastic diplegia1PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM13099330300463
HP:0001257HP:0002464Spastic dysarthria1PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM13099330300463
HP:0001257HP:0002064Spastic gait1PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM13099330300463
HP:0001257HP:0011099Spastic hemiparesis1PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM13099330300463
HP:0001257HP:0001285Spastic tetraparesis1PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM13099330300463
HP:0001257HP:0002510Spastic tetraplegia1PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM13099330300463
HP:0001257HP:0002501Spasticity of pharyngeal muscles1PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM13099330300463
HP:0001257HP:0006986Upper limb spasticity1PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM13099330300463
HP:0001257HP:0002491Spasticity of facial muscles1PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11919449176640
HP:0001257HP:0031866Clasp-knife sign1PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11919449176640
HP:0001257HP:0002061Lower limb spasticity1PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11919449176640
HP:0001257HP:0002179Opisthotonus1PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11919449176640
HP:0001257HP:0002191Progressive spasticity1PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11919449176640
HP:0001257HP:0001264Spastic diplegia1PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11919449176640
HP:0001257HP:0002464Spastic dysarthria1PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11919449176640
HP:0001257HP:0002064Spastic gait1PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11919449176640
HP:0001257HP:0011099Spastic hemiparesis1PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11919449176640
HP:0001257HP:0001285Spastic tetraparesis1PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11919449176640
HP:0001257HP:0002510Spastic tetraplegia1PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11919449176640
HP:0001257HP:0002501Spasticity of pharyngeal muscles1PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11919449176640
HP:0001257HP:0006986Upper limb spasticity1PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11919449176640
HP:0001257HP:0002491Spasticity of facial muscles1PRPH CL E G H5630803ORPHA1769461170710
HP:0001257HP:0031866Clasp-knife sign1PRPH CL E G H5630803ORPHA1769461170710
HP:0001257HP:0002061Lower limb spasticity1PRPH CL E G H5630803ORPHA1769461170710
HP:0001257HP:0002179Opisthotonus1PRPH CL E G H5630803ORPHA1769461170710
HP:0001257HP:0002191Progressive spasticity1PRPH CL E G H5630803ORPHA1769461170710
HP:0001257HP:0001264Spastic diplegia1PRPH CL E G H5630803ORPHA1769461170710
HP:0001257HP:0002464Spastic dysarthria1PRPH CL E G H5630803ORPHA1769461170710
HP:0001257HP:0002064Spastic gait1PRPH CL E G H5630803ORPHA1769461170710
HP:0001257HP:0011099Spastic hemiparesis1PRPH CL E G H5630803ORPHA1769461170710
HP:0001257HP:0001285Spastic tetraparesis1PRPH CL E G H5630803ORPHA1769461170710
HP:0001257HP:0002510Spastic tetraplegia1PRPH CL E G H5630803ORPHA1769461170710
HP:0001257HP:0002501Spasticity of pharyngeal muscles1PRPH CL E G H5630803ORPHA1769461170710
HP:0001257HP:0006986Upper limb spasticity1PRPH CL E G H5630803ORPHA1769461170710
HP:0001257HP:0002491Spasticity of facial muscles1PUM1 CL E G H9698617931SPINOCEREBELLAR ATAXIA 47617931CN244564OMIM117514957607204
HP:0001257HP:0031866Clasp-knife sign1PUM1 CL E G H9698617931SPINOCEREBELLAR ATAXIA 47617931CN244564OMIM117514957607204
HP:0001257HP:0002061Lower limb spasticity1PUM1 CL E G H9698617931SPINOCEREBELLAR ATAXIA 47617931CN244564OMIM117514957607204
HP:0001257HP:0002179Opisthotonus1PUM1 CL E G H9698617931SPINOCEREBELLAR ATAXIA 47617931CN244564OMIM117514957607204
HP:0001257HP:0002191Progressive spasticity1PUM1 CL E G H9698617931SPINOCEREBELLAR ATAXIA 47617931CN244564OMIM117514957607204
HP:0001257HP:0001264Spastic diplegia1PUM1 CL E G H9698617931SPINOCEREBELLAR ATAXIA 47617931CN244564OMIM117514957607204
HP:0001257HP:0002464Spastic dysarthria1PUM1 CL E G H9698617931SPINOCEREBELLAR ATAXIA 47617931CN244564OMIM117514957607204
HP:0001257HP:0002064Spastic gait1PUM1 CL E G H9698617931SPINOCEREBELLAR ATAXIA 47617931CN244564OMIM117514957607204
HP:0001257HP:0011099Spastic hemiparesis1PUM1 CL E G H9698617931SPINOCEREBELLAR ATAXIA 47617931CN244564OMIM117514957607204
HP:0001257HP:0001285Spastic tetraparesis1PUM1 CL E G H9698617931SPINOCEREBELLAR ATAXIA 47617931CN244564OMIM117514957607204
HP:0001257HP:0002510Spastic tetraplegia1PUM1 CL E G H9698617931SPINOCEREBELLAR ATAXIA 47617931CN244564OMIM117514957607204
HP:0001257HP:0002501Spasticity of pharyngeal muscles1PUM1 CL E G H9698617931SPINOCEREBELLAR ATAXIA 47617931CN244564OMIM117514957607204
HP:0001257HP:0006986Upper limb spasticity1PUM1 CL E G H9698617931SPINOCEREBELLAR ATAXIA 47617931CN244564OMIM117514957607204
HP:0001257HP:0002491Spasticity of facial muscles1PYCR2 CL E G H29920616420Leukodystrophy, hypomyelinating, 10616420C4225332OMIM114330262616406
HP:0001257HP:0031866Clasp-knife sign1PYCR2 CL E G H29920616420Leukodystrophy, hypomyelinating, 10616420C4225332OMIM114330262616406
HP:0001257HP:0002061Lower limb spasticity1PYCR2 CL E G H29920616420Leukodystrophy, hypomyelinating, 10616420C4225332OMIM114330262616406
HP:0001257HP:0002179Opisthotonus1PYCR2 CL E G H29920616420Leukodystrophy, hypomyelinating, 10616420C4225332OMIM114330262616406
HP:0001257HP:0002191Progressive spasticity1PYCR2 CL E G H29920616420Leukodystrophy, hypomyelinating, 10616420C4225332OMIM114330262616406
HP:0001257HP:0001264Spastic diplegia1PYCR2 CL E G H29920616420Leukodystrophy, hypomyelinating, 10616420C4225332OMIM114330262616406
HP:0001257HP:0002464Spastic dysarthria1PYCR2 CL E G H29920616420Leukodystrophy, hypomyelinating, 10616420C4225332OMIM114330262616406
HP:0001257HP:0002064Spastic gait1PYCR2 CL E G H29920616420Leukodystrophy, hypomyelinating, 10616420C4225332OMIM114330262616406
HP:0001257HP:0011099Spastic hemiparesis1PYCR2 CL E G H29920616420Leukodystrophy, hypomyelinating, 10616420C4225332OMIM114330262616406
HP:0001257HP:0001285Spastic tetraparesis1PYCR2 CL E G H29920616420Leukodystrophy, hypomyelinating, 10616420C4225332OMIM114330262616406
HP:0001257HP:0002510Spastic tetraplegia1PYCR2 CL E G H29920616420Leukodystrophy, hypomyelinating, 10616420C4225332OMIM114330262616406
HP:0001257HP:0002501Spasticity of pharyngeal muscles1PYCR2 CL E G H29920616420Leukodystrophy, hypomyelinating, 10616420C4225332OMIM114330262616406
HP:0001257HP:0006986Upper limb spasticity1PYCR2 CL E G H29920616420Leukodystrophy, hypomyelinating, 10616420C4225332OMIM114330262616406
HP:0001257HP:0002491Spasticity of facial muscles1RAB11B CL E G H9230617807NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER617807C4540498OMIM11619761604198
HP:0001257HP:0031866Clasp-knife sign1RAB11B CL E G H9230617807NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER617807C4540498OMIM11619761604198
HP:0001257HP:0002061Lower limb spasticity1RAB11B CL E G H9230617807NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER617807C4540498OMIM11619761604198
HP:0001257HP:0002179Opisthotonus1RAB11B CL E G H9230617807NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER617807C4540498OMIM11619761604198
HP:0001257HP:0002191Progressive spasticity1RAB11B CL E G H9230617807NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER617807C4540498OMIM11619761604198
HP:0001257HP:0001264Spastic diplegia1RAB11B CL E G H9230617807NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER617807C4540498OMIM11619761604198
HP:0001257HP:0002464Spastic dysarthria1RAB11B CL E G H9230617807NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER617807C4540498OMIM11619761604198
HP:0001257HP:0002064Spastic gait1RAB11B CL E G H9230617807NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER617807C4540498OMIM11619761604198
HP:0001257HP:0011099Spastic hemiparesis1RAB11B CL E G H9230617807NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER617807C4540498OMIM11619761604198
HP:0001257HP:0001285Spastic tetraparesis1RAB11B CL E G H9230617807NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER617807C4540498OMIM11619761604198
HP:0001257HP:0002510Spastic tetraplegia1RAB11B CL E G H9230617807NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER617807C4540498OMIM11619761604198
HP:0001257HP:0002501Spasticity of pharyngeal muscles1RAB11B CL E G H9230617807NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER617807C4540498OMIM11619761604198
HP:0001257HP:0006986Upper limb spasticity1RAB11B CL E G H9230617807NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER617807C4540498OMIM11619761604198
HP:0001257HP:0002491Spasticity of facial muscles1RAB18 CL E G H229312510ORPHA119114244602207
HP:0001257HP:0031866Clasp-knife sign1RAB18 CL E G H229312510ORPHA119114244602207
HP:0001257HP:0002061Lower limb spasticity1RAB18 CL E G H229312510ORPHA119114244602207
HP:0001257HP:0002179Opisthotonus1RAB18 CL E G H229312510ORPHA119114244602207
HP:0001257HP:0002191Progressive spasticity1RAB18 CL E G H229312510ORPHA119114244602207
HP:0001257HP:0001264Spastic diplegia1RAB18 CL E G H229312510ORPHA119114244602207
HP:0001257HP:0002464Spastic dysarthria1RAB18 CL E G H229312510ORPHA119114244602207
HP:0001257HP:0002064Spastic gait1RAB18 CL E G H229312510ORPHA119114244602207
HP:0001257HP:0011099Spastic hemiparesis1RAB18 CL E G H229312510ORPHA119114244602207
HP:0001257HP:0001285Spastic tetraparesis1RAB18 CL E G H229312510ORPHA119114244602207
HP:0001257HP:0002510Spastic tetraplegia1RAB18 CL E G H229312510ORPHA119114244602207
HP:0001257HP:0002501Spasticity of pharyngeal muscles1RAB18 CL E G H229312510ORPHA119114244602207
HP:0001257HP:0006986Upper limb spasticity1RAB18 CL E G H229312510ORPHA119114244602207
HP:0001257HP:0002491Spasticity of facial muscles1RAB27A CL E G H5873607624Griscelli syndrome type 2607624C1868679OMIM12989766603868
HP:0001257HP:0031866Clasp-knife sign1RAB27A CL E G H5873607624Griscelli syndrome type 2607624C1868679OMIM12989766603868
HP:0001257HP:0002061Lower limb spasticity1RAB27A CL E G H5873607624Griscelli syndrome type 2607624C1868679OMIM12989766603868
HP:0001257HP:0002179Opisthotonus1RAB27A CL E G H5873607624Griscelli syndrome type 2607624C1868679OMIM12989766603868
HP:0001257HP:0002191Progressive spasticity1RAB27A CL E G H5873607624Griscelli syndrome type 2607624C1868679OMIM12989766603868
HP:0001257HP:0001264Spastic diplegia1RAB27A CL E G H5873607624Griscelli syndrome type 2607624C1868679OMIM12989766603868
HP:0001257HP:0002464Spastic dysarthria1RAB27A CL E G H5873607624Griscelli syndrome type 2607624C1868679OMIM12989766603868
HP:0001257HP:0002064Spastic gait1RAB27A CL E G H5873607624Griscelli syndrome type 2607624C1868679OMIM12989766603868
HP:0001257HP:0011099Spastic hemiparesis1RAB27A CL E G H5873607624Griscelli syndrome type 2607624C1868679OMIM12989766603868
HP:0001257HP:0001285Spastic tetraparesis1RAB27A CL E G H5873607624Griscelli syndrome type 2607624C1868679OMIM12989766603868
HP:0001257HP:0002510Spastic tetraplegia1RAB27A CL E G H5873607624Griscelli syndrome type 2607624C1868679OMIM12989766603868
HP:0001257HP:0002501Spasticity of pharyngeal muscles1RAB27A CL E G H5873607624Griscelli syndrome type 2607624C1868679OMIM12989766603868
HP:0001257HP:0006986Upper limb spasticity1RAB27A CL E G H5873607624Griscelli syndrome type 2607624C1868679OMIM12989766603868
HP:0001257HP:0002491Spasticity of facial muscles1RAB3GAP1 CL E G H229302510ORPHA145917063602536
HP:0001257HP:0031866Clasp-knife sign1RAB3GAP1 CL E G H229302510ORPHA145917063602536
HP:0001257HP:0002061Lower limb spasticity1RAB3GAP1 CL E G H229302510ORPHA145917063602536
HP:0001257HP:0002179Opisthotonus1RAB3GAP1 CL E G H229302510ORPHA145917063602536
HP:0001257HP:0002191Progressive spasticity1RAB3GAP1 CL E G H229302510ORPHA145917063602536
HP:0001257HP:0001264Spastic diplegia1RAB3GAP1 CL E G H229302510ORPHA145917063602536
HP:0001257HP:0002464Spastic dysarthria1RAB3GAP1 CL E G H229302510ORPHA145917063602536
HP:0001257HP:0002064Spastic gait1RAB3GAP1 CL E G H229302510ORPHA145917063602536
HP:0001257HP:0011099Spastic hemiparesis1RAB3GAP1 CL E G H229302510ORPHA145917063602536
HP:0001257HP:0001285Spastic tetraparesis1RAB3GAP1 CL E G H229302510ORPHA145917063602536
HP:0001257HP:0002510Spastic tetraplegia1RAB3GAP1 CL E G H229302510ORPHA145917063602536
HP:0001257HP:0002501Spasticity of pharyngeal muscles1RAB3GAP1 CL E G H229302510ORPHA145917063602536
HP:0001257HP:0006986Upper limb spasticity1RAB3GAP1 CL E G H229302510ORPHA145917063602536
HP:0001257HP:0002491Spasticity of facial muscles1RAB3GAP2 CL E G H257822510ORPHA167117168609275
HP:0001257HP:0031866Clasp-knife sign1RAB3GAP2 CL E G H257822510ORPHA167117168609275
HP:0001257HP:0002061Lower limb spasticity1RAB3GAP2 CL E G H257822510ORPHA167117168609275
HP:0001257HP:0002179Opisthotonus1RAB3GAP2 CL E G H257822510ORPHA167117168609275
HP:0001257HP:0002191Progressive spasticity1RAB3GAP2 CL E G H257822510ORPHA167117168609275
HP:0001257HP:0001264Spastic diplegia1RAB3GAP2 CL E G H257822510ORPHA167117168609275
HP:0001257HP:0002464Spastic dysarthria1RAB3GAP2 CL E G H257822510ORPHA167117168609275
HP:0001257HP:0002064Spastic gait1RAB3GAP2 CL E G H257822510ORPHA167117168609275
HP:0001257HP:0011099Spastic hemiparesis1RAB3GAP2 CL E G H257822510ORPHA167117168609275
HP:0001257HP:0001285Spastic tetraparesis1RAB3GAP2 CL E G H257822510ORPHA167117168609275
HP:0001257HP:0002510Spastic tetraplegia1RAB3GAP2 CL E G H257822510ORPHA167117168609275
HP:0001257HP:0002501Spasticity of pharyngeal muscles1RAB3GAP2 CL E G H257822510ORPHA167117168609275
HP:0001257HP:0006986Upper limb spasticity1RAB3GAP2 CL E G H257822510ORPHA167117168609275
HP:0001257HP:0002491Spasticity of facial muscles1RAD50 CL E G H10111613078Nijmegen breakage syndrome-like disorder613078C2751318OMIM140049816604040
HP:0001257HP:0031866Clasp-knife sign1RAD50 CL E G H10111613078Nijmegen breakage syndrome-like disorder613078C2751318OMIM140049816604040
HP:0001257HP:0002061Lower limb spasticity1RAD50 CL E G H10111613078Nijmegen breakage syndrome-like disorder613078C2751318OMIM140049816604040
HP:0001257HP:0002179Opisthotonus1RAD50 CL E G H10111613078Nijmegen breakage syndrome-like disorder613078C2751318OMIM140049816604040
HP:0001257HP:0002191Progressive spasticity1RAD50 CL E G H10111613078Nijmegen breakage syndrome-like disorder613078C2751318OMIM140049816604040
HP:0001257HP:0001264Spastic diplegia1RAD50 CL E G H10111613078Nijmegen breakage syndrome-like disorder613078C2751318OMIM140049816604040
HP:0001257HP:0002464Spastic dysarthria1RAD50 CL E G H10111613078Nijmegen breakage syndrome-like disorder613078C2751318OMIM140049816604040
HP:0001257HP:0002064Spastic gait1RAD50 CL E G H10111613078Nijmegen breakage syndrome-like disorder613078C2751318OMIM140049816604040
HP:0001257HP:0011099Spastic hemiparesis1RAD50 CL E G H10111613078Nijmegen breakage syndrome-like disorder613078C2751318OMIM140049816604040
HP:0001257HP:0001285Spastic tetraparesis1RAD50 CL E G H10111613078Nijmegen breakage syndrome-like disorder613078C2751318OMIM140049816604040
HP:0001257HP:0002510Spastic tetraplegia1RAD50 CL E G H10111613078Nijmegen breakage syndrome-like disorder613078C2751318OMIM140049816604040
HP:0001257HP:0002501Spasticity of pharyngeal muscles1RAD50 CL E G H10111613078Nijmegen breakage syndrome-like disorder613078C2751318OMIM140049816604040
HP:0001257HP:0006986Upper limb spasticity1RAD50 CL E G H10111613078Nijmegen breakage syndrome-like disorder613078C2751318OMIM140049816604040
HP:0001257HP:0002491Spasticity of facial muscles1RARS CL E G H5917616140Leukodystrophy, hypomyelinating, 9616140C4015323OMIM19870107820
HP:0001257HP:0031866Clasp-knife sign1RARS CL E G H5917616140Leukodystrophy, hypomyelinating, 9616140C4015323OMIM19870107820
HP:0001257HP:0002061Lower limb spasticity1RARS CL E G H5917616140Leukodystrophy, hypomyelinating, 9616140C4015323OMIM19870107820
HP:0001257HP:0002179Opisthotonus1RARS CL E G H5917616140Leukodystrophy, hypomyelinating, 9616140C4015323OMIM19870107820
HP:0001257HP:0002191Progressive spasticity1RARS CL E G H5917616140Leukodystrophy, hypomyelinating, 9616140C4015323OMIM19870107820
HP:0001257HP:0001264Spastic diplegia1RARS CL E G H5917616140Leukodystrophy, hypomyelinating, 9616140C4015323OMIM19870107820
HP:0001257HP:0002464Spastic dysarthria1RARS CL E G H5917616140Leukodystrophy, hypomyelinating, 9616140C4015323OMIM19870107820
HP:0001257HP:0002064Spastic gait1RARS CL E G H5917616140Leukodystrophy, hypomyelinating, 9616140C4015323OMIM19870107820
HP:0001257HP:0011099Spastic hemiparesis1RARS CL E G H5917616140Leukodystrophy, hypomyelinating, 9616140C4015323OMIM19870107820
HP:0001257HP:0001285Spastic tetraparesis1RARS CL E G H5917616140Leukodystrophy, hypomyelinating, 9616140C4015323OMIM19870107820
HP:0001257HP:0002510Spastic tetraplegia1RARS CL E G H5917616140Leukodystrophy, hypomyelinating, 9616140C4015323OMIM19870107820
HP:0001257HP:0002501Spasticity of pharyngeal muscles1RARS CL E G H5917616140Leukodystrophy, hypomyelinating, 9616140C4015323OMIM19870107820
HP:0001257HP:0006986Upper limb spasticity1RARS CL E G H5917616140Leukodystrophy, hypomyelinating, 9616140C4015323OMIM19870107820
HP:0001257HP:0002491Spasticity of facial muscles1REPS1 CL E G H85021617916NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7617916CN895590OMIM115615578614825
HP:0001257HP:0031866Clasp-knife sign1REPS1 CL E G H85021617916NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7617916CN895590OMIM115615578614825
HP:0001257HP:0002061Lower limb spasticity1REPS1 CL E G H85021617916NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7617916CN895590OMIM115615578614825
HP:0001257HP:0002179Opisthotonus1REPS1 CL E G H85021617916NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7617916CN895590OMIM115615578614825
HP:0001257HP:0002191Progressive spasticity1REPS1 CL E G H85021617916NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7617916CN895590OMIM115615578614825
HP:0001257HP:0001264Spastic diplegia1REPS1 CL E G H85021617916NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7617916CN895590OMIM115615578614825
HP:0001257HP:0002464Spastic dysarthria1REPS1 CL E G H85021617916NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7617916CN895590OMIM115615578614825
HP:0001257HP:0002064Spastic gait1REPS1 CL E G H85021617916NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7617916CN895590OMIM115615578614825
HP:0001257HP:0011099Spastic hemiparesis1REPS1 CL E G H85021617916NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7617916CN895590OMIM115615578614825
HP:0001257HP:0001285Spastic tetraparesis1REPS1 CL E G H85021617916NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7617916CN895590OMIM115615578614825
HP:0001257HP:0002510Spastic tetraplegia1REPS1 CL E G H85021617916NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7617916CN895590OMIM115615578614825
HP:0001257HP:0002501Spasticity of pharyngeal muscles1REPS1 CL E G H85021617916NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7617916CN895590OMIM115615578614825
HP:0001257HP:0006986Upper limb spasticity1REPS1 CL E G H85021617916NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7617916CN895590OMIM115615578614825
HP:0001257HP:0002491Spasticity of facial muscles1RETREG1 CL E G H54463613115Hereditary sensory and autonomic neuropathy type IIB613115C2751092OMIM152325964613114
HP:0001257HP:0031866Clasp-knife sign1RETREG1 CL E G H54463613115Hereditary sensory and autonomic neuropathy type IIB613115C2751092OMIM152325964613114
HP:0001257HP:0002061Lower limb spasticity1RETREG1 CL E G H54463613115Hereditary sensory and autonomic neuropathy type IIB613115C2751092OMIM152325964613114
HP:0001257HP:0002179Opisthotonus1RETREG1 CL E G H54463613115Hereditary sensory and autonomic neuropathy type IIB613115C2751092OMIM152325964613114
HP:0001257HP:0002191Progressive spasticity1RETREG1 CL E G H54463613115Hereditary sensory and autonomic neuropathy type IIB613115C2751092OMIM152325964613114
HP:0001257HP:0001264Spastic diplegia1RETREG1 CL E G H54463613115Hereditary sensory and autonomic neuropathy type IIB613115C2751092OMIM152325964613114
HP:0001257HP:0002464Spastic dysarthria1RETREG1 CL E G H54463613115Hereditary sensory and autonomic neuropathy type IIB613115C2751092OMIM152325964613114
HP:0001257HP:0002064Spastic gait1RETREG1 CL E G H54463613115Hereditary sensory and autonomic neuropathy type IIB613115C2751092OMIM152325964613114
HP:0001257HP:0011099Spastic hemiparesis1RETREG1 CL E G H54463613115Hereditary sensory and autonomic neuropathy type IIB613115C2751092OMIM152325964613114
HP:0001257HP:0001285Spastic tetraparesis1RETREG1 CL E G H54463613115Hereditary sensory and autonomic neuropathy type IIB613115C2751092OMIM152325964613114
HP:0001257HP:0002510Spastic tetraplegia1RETREG1 CL E G H54463613115Hereditary sensory and autonomic neuropathy type IIB613115C2751092OMIM152325964613114
HP:0001257HP:0002501Spasticity of pharyngeal muscles1RETREG1 CL E G H54463613115Hereditary sensory and autonomic neuropathy type IIB613115C2751092OMIM152325964613114
HP:0001257HP:0006986Upper limb spasticity1RETREG1 CL E G H54463613115Hereditary sensory and autonomic neuropathy type IIB613115C2751092OMIM152325964613114
HP:0001257HP:0002491Spasticity of facial muscles1RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0001257HP:0031866Clasp-knife sign1RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0001257HP:0002061Lower limb spasticity1RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0001257HP:0002179Opisthotonus1RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0001257HP:0002191Progressive spasticity1RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0001257HP:0001264Spastic diplegia1RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0001257HP:0002464Spastic dysarthria1RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0001257HP:0002064Spastic gait1RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0001257HP:0011099Spastic hemiparesis1RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0001257HP:0001285Spastic tetraparesis1RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0001257HP:0002510Spastic tetraplegia1RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0001257HP:0002501Spasticity of pharyngeal muscles1RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0001257HP:0006986Upper limb spasticity1RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0001257HP:0002491Spasticity of facial muscles1RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM150530220611908
HP:0001257HP:0031866Clasp-knife sign1RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM150530220611908
HP:0001257HP:0002061Lower limb spasticity1RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM150530220611908
HP:0001257HP:0002179Opisthotonus1RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM150530220611908
HP:0001257HP:0002191Progressive spasticity1RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM150530220611908
HP:0001257HP:0001264Spastic diplegia1RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM150530220611908
HP:0001257HP:0002464Spastic dysarthria1RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM150530220611908
HP:0001257HP:0002064Spastic gait1RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM150530220611908
HP:0001257HP:0011099Spastic hemiparesis1RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM150530220611908
HP:0001257HP:0001285Spastic tetraparesis1RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM150530220611908
HP:0001257HP:0002510Spastic tetraplegia1RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM150530220611908
HP:0001257HP:0002501Spasticity of pharyngeal muscles1RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM150530220611908
HP:0001257HP:0006986Upper limb spasticity1RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM150530220611908
HP:0001257HP:0002491Spasticity of facial muscles1RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM122313429300379
HP:0001257HP:0031866Clasp-knife sign1RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM122313429300379
HP:0001257HP:0002061Lower limb spasticity1RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM122313429300379
HP:0001257HP:0002179Opisthotonus1RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM122313429300379
HP:0001257HP:0002191Progressive spasticity1RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM122313429300379
HP:0001257HP:0001264Spastic diplegia1RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM122313429300379
HP:0001257HP:0002464Spastic dysarthria1RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM122313429300379
HP:0001257HP:0002064Spastic gait1RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM122313429300379
HP:0001257HP:0011099Spastic hemiparesis1RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM122313429300379
HP:0001257HP:0001285Spastic tetraparesis1RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM122313429300379
HP:0001257HP:0002510Spastic tetraplegia1RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM122313429300379
HP:0001257HP:0002501Spasticity of pharyngeal muscles1RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM122313429300379
HP:0001257HP:0006986Upper limb spasticity1RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM122313429300379
HP:0001257HP:0002491Spasticity of facial muscles1RNASEH2A CL E G H10535610333Aicardi Goutieres syndrome 4610333C1835912OMIM140418518606034
HP:0001257HP:0031866Clasp-knife sign1RNASEH2A CL E G H10535610333Aicardi Goutieres syndrome 4610333C1835912OMIM140418518606034
HP:0001257HP:0002061Lower limb spasticity1RNASEH2A CL E G H10535610333Aicardi Goutieres syndrome 4610333C1835912OMIM140418518606034
HP:0001257HP:0002179Opisthotonus1RNASEH2A CL E G H10535610333Aicardi Goutieres syndrome 4610333C1835912OMIM140418518606034
HP:0001257HP:0002191Progressive spasticity1RNASEH2A CL E G H10535610333Aicardi Goutieres syndrome 4610333C1835912OMIM140418518606034
HP:0001257HP:0001264Spastic diplegia1RNASEH2A CL E G H10535610333Aicardi Goutieres syndrome 4610333C1835912OMIM140418518606034
HP:0001257HP:0002464Spastic dysarthria1RNASEH2A CL E G H10535610333Aicardi Goutieres syndrome 4610333C1835912OMIM140418518606034
HP:0001257HP:0002064Spastic gait1RNASEH2A CL E G H10535610333Aicardi Goutieres syndrome 4610333C1835912OMIM140418518606034
HP:0001257HP:0011099Spastic hemiparesis1RNASEH2A CL E G H10535610333Aicardi Goutieres syndrome 4610333C1835912OMIM140418518606034
HP:0001257HP:0001285Spastic tetraparesis1RNASEH2A CL E G H10535610333Aicardi Goutieres syndrome 4610333C1835912OMIM140418518606034
HP:0001257HP:0002510Spastic tetraplegia1RNASEH2A CL E G H10535610333Aicardi Goutieres syndrome 4610333C1835912OMIM140418518606034
HP:0001257HP:0002501Spasticity of pharyngeal muscles1RNASEH2A CL E G H10535610333Aicardi Goutieres syndrome 4610333C1835912OMIM140418518606034
HP:0001257HP:0006986Upper limb spasticity1RNASEH2A CL E G H10535610333Aicardi Goutieres syndrome 4610333C1835912OMIM140418518606034
HP:0001257HP:0002491Spasticity of facial muscles1RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM130724116610330
HP:0001257HP:0031866Clasp-knife sign1RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM130724116610330
HP:0001257HP:0002061Lower limb spasticity1RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM130724116610330
HP:0001257HP:0002179Opisthotonus1RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM130724116610330
HP:0001257HP:0002191Progressive spasticity1RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM130724116610330
HP:0001257HP:0001264Spastic diplegia1RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM130724116610330
HP:0001257HP:0002464Spastic dysarthria1RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM130724116610330
HP:0001257HP:0002064Spastic gait1RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM130724116610330
HP:0001257HP:0011099Spastic hemiparesis1RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM130724116610330
HP:0001257HP:0001285Spastic tetraparesis1RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM130724116610330
HP:0001257HP:0002510Spastic tetraplegia1RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM130724116610330
HP:0001257HP:0002501Spasticity of pharyngeal muscles1RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM130724116610330
HP:0001257HP:0006986Upper limb spasticity1RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM130724116610330
HP:0001257HP:0002491Spasticity of facial muscles1RNU4ATAC CL E G H1001516832636Hemihypertrophy intestinal web corneal opacityORPHA126134016601428
HP:0001257HP:0031866Clasp-knife sign1RNU4ATAC CL E G H1001516832636Hemihypertrophy intestinal web corneal opacityORPHA126134016601428
HP:0001257HP:0002061Lower limb spasticity1RNU4ATAC CL E G H1001516832636Hemihypertrophy intestinal web corneal opacityORPHA126134016601428
HP:0001257HP:0002179Opisthotonus1RNU4ATAC CL E G H1001516832636Hemihypertrophy intestinal web corneal opacityORPHA126134016601428
HP:0001257HP:0002191Progressive spasticity1RNU4ATAC CL E G H1001516832636Hemihypertrophy intestinal web corneal opacityORPHA126134016601428
HP:0001257HP:0001264Spastic diplegia1RNU4ATAC CL E G H1001516832636Hemihypertrophy intestinal web corneal opacityORPHA126134016601428
HP:0001257HP:0002464Spastic dysarthria1RNU4ATAC CL E G H1001516832636Hemihypertrophy intestinal web corneal opacityORPHA126134016601428
HP:0001257HP:0002064Spastic gait1RNU4ATAC CL E G H1001516832636Hemihypertrophy intestinal web corneal opacityORPHA126134016601428
HP:0001257HP:0011099Spastic hemiparesis1RNU4ATAC CL E G H1001516832636Hemihypertrophy intestinal web corneal opacityORPHA126134016601428
HP:0001257HP:0001285Spastic tetraparesis1RNU4ATAC CL E G H1001516832636Hemihypertrophy intestinal web corneal opacityORPHA126134016601428
HP:0001257HP:0002510Spastic tetraplegia1RNU4ATAC CL E G H1001516832636Hemihypertrophy intestinal web corneal opacityORPHA126134016601428
HP:0001257HP:0002501Spasticity of pharyngeal muscles1RNU4ATAC CL E G H1001516832636Hemihypertrophy intestinal web corneal opacityORPHA126134016601428
HP:0001257HP:0006986Upper limb spasticity1RNU4ATAC CL E G H1001516832636Hemihypertrophy intestinal web corneal opacityORPHA126134016601428
HP:0001257HP:0002491Spasticity of facial muscles1ROGDI CL E G H796411946ORPHA156029478614574
HP:0001257HP:0031866Clasp-knife sign1ROGDI CL E G H796411946ORPHA156029478614574
HP:0001257HP:0002061Lower limb spasticity1ROGDI CL E G H796411946ORPHA156029478614574
HP:0001257HP:0002179Opisthotonus1ROGDI CL E G H796411946ORPHA156029478614574
HP:0001257HP:0002191Progressive spasticity1ROGDI CL E G H796411946ORPHA156029478614574
HP:0001257HP:0001264Spastic diplegia1ROGDI CL E G H796411946ORPHA156029478614574
HP:0001257HP:0002464Spastic dysarthria1ROGDI CL E G H796411946ORPHA156029478614574
HP:0001257HP:0002064Spastic gait1ROGDI CL E G H796411946ORPHA156029478614574
HP:0001257HP:0011099Spastic hemiparesis1ROGDI CL E G H796411946ORPHA156029478614574
HP:0001257HP:0001285Spastic tetraparesis1ROGDI CL E G H796411946ORPHA156029478614574
HP:0001257HP:0002510Spastic tetraplegia1ROGDI CL E G H796411946ORPHA156029478614574
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ROGDI CL E G H796411946ORPHA156029478614574
HP:0001257HP:0006986Upper limb spasticity1ROGDI CL E G H796411946ORPHA156029478614574
HP:0001257HP:0002491Spasticity of facial muscles1ROGDI CL E G H79641226750Kohlschutter's syndrome226750C0406740OMIM156029478614574
HP:0001257HP:0031866Clasp-knife sign1ROGDI CL E G H79641226750Kohlschutter's syndrome226750C0406740OMIM156029478614574
HP:0001257HP:0002061Lower limb spasticity1ROGDI CL E G H79641226750Kohlschutter's syndrome226750C0406740OMIM156029478614574
HP:0001257HP:0002179Opisthotonus1ROGDI CL E G H79641226750Kohlschutter's syndrome226750C0406740OMIM156029478614574
HP:0001257HP:0002191Progressive spasticity1ROGDI CL E G H79641226750Kohlschutter's syndrome226750C0406740OMIM156029478614574
HP:0001257HP:0001264Spastic diplegia1ROGDI CL E G H79641226750Kohlschutter's syndrome226750C0406740OMIM156029478614574
HP:0001257HP:0002464Spastic dysarthria1ROGDI CL E G H79641226750Kohlschutter's syndrome226750C0406740OMIM156029478614574
HP:0001257HP:0002064Spastic gait1ROGDI CL E G H79641226750Kohlschutter's syndrome226750C0406740OMIM156029478614574
HP:0001257HP:0011099Spastic hemiparesis1ROGDI CL E G H79641226750Kohlschutter's syndrome226750C0406740OMIM156029478614574
HP:0001257HP:0001285Spastic tetraparesis1ROGDI CL E G H79641226750Kohlschutter's syndrome226750C0406740OMIM156029478614574
HP:0001257HP:0002510Spastic tetraplegia1ROGDI CL E G H79641226750Kohlschutter's syndrome226750C0406740OMIM156029478614574
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ROGDI CL E G H79641226750Kohlschutter's syndrome226750C0406740OMIM156029478614574
HP:0001257HP:0006986Upper limb spasticity1ROGDI CL E G H79641226750Kohlschutter's syndrome226750C0406740OMIM156029478614574
HP:0001257HP:0002491Spasticity of facial muscles1RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM1149429168610937
HP:0001257HP:0031866Clasp-knife sign1RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM1149429168610937
HP:0001257HP:0002061Lower limb spasticity1RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM1149429168610937
HP:0001257HP:0002179Opisthotonus1RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM1149429168610937
HP:0001257HP:0002191Progressive spasticity1RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM1149429168610937
HP:0001257HP:0001264Spastic diplegia1RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM1149429168610937
HP:0001257HP:0002464Spastic dysarthria1RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM1149429168610937
HP:0001257HP:0002064Spastic gait1RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM1149429168610937
HP:0001257HP:0011099Spastic hemiparesis1RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM1149429168610937
HP:0001257HP:0001285Spastic tetraparesis1RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM1149429168610937
HP:0001257HP:0002510Spastic tetraplegia1RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM1149429168610937
HP:0001257HP:0002501Spasticity of pharyngeal muscles1RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM1149429168610937
HP:0001257HP:0006986Upper limb spasticity1RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM1149429168610937
HP:0001257HP:0002491Spasticity of facial muscles1RPIA CL E G H22934608611Deficiency of ribose-5-phosphate isomerase608611C1291609OMIM111210297180430
HP:0001257HP:0031866Clasp-knife sign1RPIA CL E G H22934608611Deficiency of ribose-5-phosphate isomerase608611C1291609OMIM111210297180430
HP:0001257HP:0002061Lower limb spasticity1RPIA CL E G H22934608611Deficiency of ribose-5-phosphate isomerase608611C1291609OMIM111210297180430
HP:0001257HP:0002179Opisthotonus1RPIA CL E G H22934608611Deficiency of ribose-5-phosphate isomerase608611C1291609OMIM111210297180430
HP:0001257HP:0002191Progressive spasticity1RPIA CL E G H22934608611Deficiency of ribose-5-phosphate isomerase608611C1291609OMIM111210297180430
HP:0001257HP:0001264Spastic diplegia1RPIA CL E G H22934608611Deficiency of ribose-5-phosphate isomerase608611C1291609OMIM111210297180430
HP:0001257HP:0002464Spastic dysarthria1RPIA CL E G H22934608611Deficiency of ribose-5-phosphate isomerase608611C1291609OMIM111210297180430
HP:0001257HP:0002064Spastic gait1RPIA CL E G H22934608611Deficiency of ribose-5-phosphate isomerase608611C1291609OMIM111210297180430
HP:0001257HP:0011099Spastic hemiparesis1RPIA CL E G H22934608611Deficiency of ribose-5-phosphate isomerase608611C1291609OMIM111210297180430
HP:0001257HP:0001285Spastic tetraparesis1RPIA CL E G H22934608611Deficiency of ribose-5-phosphate isomerase608611C1291609OMIM111210297180430
HP:0001257HP:0002510Spastic tetraplegia1RPIA CL E G H22934608611Deficiency of ribose-5-phosphate isomerase608611C1291609OMIM111210297180430
HP:0001257HP:0002501Spasticity of pharyngeal muscles1RPIA CL E G H22934608611Deficiency of ribose-5-phosphate isomerase608611C1291609OMIM111210297180430
HP:0001257HP:0006986Upper limb spasticity1RPIA CL E G H22934608611Deficiency of ribose-5-phosphate isomerase608611C1291609OMIM111210297180430
HP:0001257HP:0002491Spasticity of facial muscles1RUSC2 CL E G H9853617773MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61617773C4540424OMIM182423625611053
HP:0001257HP:0031866Clasp-knife sign1RUSC2 CL E G H9853617773MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61617773C4540424OMIM182423625611053
HP:0001257HP:0002061Lower limb spasticity1RUSC2 CL E G H9853617773MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61617773C4540424OMIM182423625611053
HP:0001257HP:0002179Opisthotonus1RUSC2 CL E G H9853617773MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61617773C4540424OMIM182423625611053
HP:0001257HP:0002191Progressive spasticity1RUSC2 CL E G H9853617773MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61617773C4540424OMIM182423625611053
HP:0001257HP:0001264Spastic diplegia1RUSC2 CL E G H9853617773MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61617773C4540424OMIM182423625611053
HP:0001257HP:0002464Spastic dysarthria1RUSC2 CL E G H9853617773MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61617773C4540424OMIM182423625611053
HP:0001257HP:0002064Spastic gait1RUSC2 CL E G H9853617773MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61617773C4540424OMIM182423625611053
HP:0001257HP:0011099Spastic hemiparesis1RUSC2 CL E G H9853617773MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61617773C4540424OMIM182423625611053
HP:0001257HP:0001285Spastic tetraparesis1RUSC2 CL E G H9853617773MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61617773C4540424OMIM182423625611053
HP:0001257HP:0002510Spastic tetraplegia1RUSC2 CL E G H9853617773MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61617773C4540424OMIM182423625611053
HP:0001257HP:0002501Spasticity of pharyngeal muscles1RUSC2 CL E G H9853617773MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61617773C4540424OMIM182423625611053
HP:0001257HP:0006986Upper limb spasticity1RUSC2 CL E G H9853617773MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61617773C4540424OMIM182423625611053
HP:0001257HP:0002491Spasticity of facial muscles1SACS CL E G H26278270550Spastic ataxia Charlevoix-Saguenay type270550C1849140OMIM1337710519604490
HP:0001257HP:0031866Clasp-knife sign1SACS CL E G H26278270550Spastic ataxia Charlevoix-Saguenay type270550C1849140OMIM1337710519604490
HP:0001257HP:0002061Lower limb spasticity1SACS CL E G H26278270550Spastic ataxia Charlevoix-Saguenay type270550C1849140OMIM1337710519604490
HP:0001257HP:0002179Opisthotonus1SACS CL E G H26278270550Spastic ataxia Charlevoix-Saguenay type270550C1849140OMIM1337710519604490
HP:0001257HP:0002191Progressive spasticity1SACS CL E G H26278270550Spastic ataxia Charlevoix-Saguenay type270550C1849140OMIM1337710519604490
HP:0001257HP:0001264Spastic diplegia1SACS CL E G H26278270550Spastic ataxia Charlevoix-Saguenay type270550C1849140OMIM1337710519604490
HP:0001257HP:0002464Spastic dysarthria1SACS CL E G H26278270550Spastic ataxia Charlevoix-Saguenay type270550C1849140OMIM1337710519604490
HP:0001257HP:0002064Spastic gait1SACS CL E G H26278270550Spastic ataxia Charlevoix-Saguenay type270550C1849140OMIM1337710519604490
HP:0001257HP:0011099Spastic hemiparesis1SACS CL E G H26278270550Spastic ataxia Charlevoix-Saguenay type270550C1849140OMIM1337710519604490
HP:0001257HP:0001285Spastic tetraparesis1SACS CL E G H26278270550Spastic ataxia Charlevoix-Saguenay type270550C1849140OMIM1337710519604490
HP:0001257HP:0002510Spastic tetraplegia1SACS CL E G H26278270550Spastic ataxia Charlevoix-Saguenay type270550C1849140OMIM1337710519604490
HP:0001257HP:0002501Spasticity of pharyngeal muscles1SACS CL E G H26278270550Spastic ataxia Charlevoix-Saguenay type270550C1849140OMIM1337710519604490
HP:0001257HP:0006986Upper limb spasticity1SACS CL E G H26278270550Spastic ataxia Charlevoix-Saguenay type270550C1849140OMIM1337710519604490
HP:0001257HP:0002491Spasticity of facial muscles1SAMHD1 CL E G H25939612952Aicardi Goutieres syndrome 5612952C2749659OMIM174615925606754
HP:0001257HP:0031866Clasp-knife sign1SAMHD1 CL E G H25939612952Aicardi Goutieres syndrome 5612952C2749659OMIM174615925606754
HP:0001257HP:0002061Lower limb spasticity1SAMHD1 CL E G H25939612952Aicardi Goutieres syndrome 5612952C2749659OMIM174615925606754
HP:0001257HP:0002179Opisthotonus1SAMHD1 CL E G H25939612952Aicardi Goutieres syndrome 5612952C2749659OMIM174615925606754
HP:0001257HP:0002191Progressive spasticity1SAMHD1 CL E G H25939612952Aicardi Goutieres syndrome 5612952C2749659OMIM174615925606754
HP:0001257HP:0001264Spastic diplegia1SAMHD1 CL E G H25939612952Aicardi Goutieres syndrome 5612952C2749659OMIM174615925606754
HP:0001257HP:0002464Spastic dysarthria1SAMHD1 CL E G H25939612952Aicardi Goutieres syndrome 5612952C2749659OMIM174615925606754
HP:0001257HP:0002064Spastic gait1SAMHD1 CL E G H25939612952Aicardi Goutieres syndrome 5612952C2749659OMIM174615925606754
HP:0001257HP:0011099Spastic hemiparesis1SAMHD1 CL E G H25939612952Aicardi Goutieres syndrome 5612952C2749659OMIM174615925606754
HP:0001257HP:0001285Spastic tetraparesis1SAMHD1 CL E G H25939612952Aicardi Goutieres syndrome 5612952C2749659OMIM174615925606754
HP:0001257HP:0002510Spastic tetraplegia1SAMHD1 CL E G H25939612952Aicardi Goutieres syndrome 5612952C2749659OMIM174615925606754
HP:0001257HP:0002501Spasticity of pharyngeal muscles1SAMHD1 CL E G H25939612952Aicardi Goutieres syndrome 5612952C2749659OMIM174615925606754
HP:0001257HP:0006986Upper limb spasticity1SAMHD1 CL E G H25939612952Aicardi Goutieres syndrome 5612952C2749659OMIM174615925606754
HP:0001257HP:0002491Spasticity of facial muscles1SCN1B CL E G H6324617350Epileptic encephalopathy, early infantile, 52617350C4479236OMIM151110586600235
HP:0001257HP:0031866Clasp-knife sign1SCN1B CL E G H6324617350Epileptic encephalopathy, early infantile, 52617350C4479236OMIM151110586600235
HP:0001257HP:0002061Lower limb spasticity1SCN1B CL E G H6324617350Epileptic encephalopathy, early infantile, 52617350C4479236OMIM151110586600235
HP:0001257HP:0002179Opisthotonus1SCN1B CL E G H6324617350Epileptic encephalopathy, early infantile, 52617350C4479236OMIM151110586600235
HP:0001257HP:0002191Progressive spasticity1SCN1B CL E G H6324617350Epileptic encephalopathy, early infantile, 52617350C4479236OMIM151110586600235
HP:0001257HP:0001264Spastic diplegia1SCN1B CL E G H6324617350Epileptic encephalopathy, early infantile, 52617350C4479236OMIM151110586600235
HP:0001257HP:0002464Spastic dysarthria1SCN1B CL E G H6324617350Epileptic encephalopathy, early infantile, 52617350C4479236OMIM151110586600235
HP:0001257HP:0002064Spastic gait1SCN1B CL E G H6324617350Epileptic encephalopathy, early infantile, 52617350C4479236OMIM151110586600235
HP:0001257HP:0011099Spastic hemiparesis1SCN1B CL E G H6324617350Epileptic encephalopathy, early infantile, 52617350C4479236OMIM151110586600235
HP:0001257HP:0001285Spastic tetraparesis1SCN1B CL E G H6324617350Epileptic encephalopathy, early infantile, 52617350C4479236OMIM151110586600235
HP:0001257HP:0002510Spastic tetraplegia1SCN1B CL E G H6324617350Epileptic encephalopathy, early infantile, 52617350C4479236OMIM151110586600235
HP:0001257HP:0002501Spasticity of pharyngeal muscles1SCN1B CL E G H6324617350Epileptic encephalopathy, early infantile, 52617350C4479236OMIM151110586600235
HP:0001257HP:0006986Upper limb spasticity1SCN1B CL E G H6324617350Epileptic encephalopathy, early infantile, 52617350C4479236OMIM151110586600235
HP:0001257HP:0002491Spasticity of facial muscles1SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0001257HP:0031866Clasp-knife sign1SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0001257HP:0002061Lower limb spasticity1SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0001257HP:0002179Opisthotonus1SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0001257HP:0002191Progressive spasticity1SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0001257HP:0001264Spastic diplegia1SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0001257HP:0002464Spastic dysarthria1SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0001257HP:0002064Spastic gait1SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0001257HP:0011099Spastic hemiparesis1SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0001257HP:0001285Spastic tetraparesis1SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0001257HP:0002510Spastic tetraplegia1SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0001257HP:0002501Spasticity of pharyngeal muscles1SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0001257HP:0006986Upper limb spasticity1SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0001257HP:0002491Spasticity of facial muscles1SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1250310680600857
HP:0001257HP:0031866Clasp-knife sign1SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1250310680600857
HP:0001257HP:0002061Lower limb spasticity1SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1250310680600857
HP:0001257HP:0002179Opisthotonus1SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1250310680600857
HP:0001257HP:0002191Progressive spasticity1SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1250310680600857
HP:0001257HP:0001264Spastic diplegia1SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1250310680600857
HP:0001257HP:0002464Spastic dysarthria1SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1250310680600857
HP:0001257HP:0002064Spastic gait1SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1250310680600857
HP:0001257HP:0011099Spastic hemiparesis1SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1250310680600857
HP:0001257HP:0001285Spastic tetraparesis1SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1250310680600857
HP:0001257HP:0002510Spastic tetraplegia1SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1250310680600857
HP:0001257HP:0002501Spasticity of pharyngeal muscles1SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1250310680600857
HP:0001257HP:0006986Upper limb spasticity1SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1250310680600857
HP:0001257HP:0002491Spasticity of facial muscles1SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM17733867612848
HP:0001257HP:0031866Clasp-knife sign1SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM17733867612848
HP:0001257HP:0002061Lower limb spasticity1SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM17733867612848
HP:0001257HP:0002179Opisthotonus1SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM17733867612848
HP:0001257HP:0002191Progressive spasticity1SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM17733867612848
HP:0001257HP:0001264Spastic diplegia1SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM17733867612848
HP:0001257HP:0002464Spastic dysarthria1SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM17733867612848
HP:0001257HP:0002064Spastic gait1SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM17733867612848
HP:0001257HP:0011099Spastic hemiparesis1SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM17733867612848
HP:0001257HP:0001285Spastic tetraparesis1SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM17733867612848
HP:0001257HP:0002510Spastic tetraplegia1SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM17733867612848
HP:0001257HP:0002501Spasticity of pharyngeal muscles1SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM17733867612848
HP:0001257HP:0006986Upper limb spasticity1SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM17733867612848
HP:0001257HP:0002491Spasticity of facial muscles1SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM168610683602690
HP:0001257HP:0031866Clasp-knife sign1SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM168610683602690
HP:0001257HP:0002061Lower limb spasticity1SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM168610683602690
HP:0001257HP:0002179Opisthotonus1SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM168610683602690
HP:0001257HP:0002191Progressive spasticity1SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM168610683602690
HP:0001257HP:0001264Spastic diplegia1SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM168610683602690
HP:0001257HP:0002464Spastic dysarthria1SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM168610683602690
HP:0001257HP:0002064Spastic gait1SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM168610683602690
HP:0001257HP:0011099Spastic hemiparesis1SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM168610683602690
HP:0001257HP:0001285Spastic tetraparesis1SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM168610683602690
HP:0001257HP:0002510Spastic tetraplegia1SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM168610683602690
HP:0001257HP:0002501Spasticity of pharyngeal muscles1SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM168610683602690
HP:0001257HP:0006986Upper limb spasticity1SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM168610683602690
HP:0001257HP:0002491Spasticity of facial muscles1SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0001257HP:0031866Clasp-knife sign1SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0001257HP:0002061Lower limb spasticity1SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0001257HP:0002179Opisthotonus1SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0001257HP:0002191Progressive spasticity1SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0001257HP:0001264Spastic diplegia1SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0001257HP:0002464Spastic dysarthria1SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0001257HP:0002064Spastic gait1SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0001257HP:0011099Spastic hemiparesis1SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0001257HP:0001285Spastic tetraparesis1SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0001257HP:0002510Spastic tetraplegia1SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0001257HP:0002501Spasticity of pharyngeal muscles1SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0001257HP:0006986Upper limb spasticity1SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0001257HP:0002491Spasticity of facial muscles1SIGMAR1 CL E G H10280614373Amyotrophic lateral sclerosis 16, juvenile614373C3280587OMIM12478157601978
HP:0001257HP:0031866Clasp-knife sign1SIGMAR1 CL E G H10280614373Amyotrophic lateral sclerosis 16, juvenile614373C3280587OMIM12478157601978
HP:0001257HP:0002061Lower limb spasticity1SIGMAR1 CL E G H10280614373Amyotrophic lateral sclerosis 16, juvenile614373C3280587OMIM12478157601978
HP:0001257HP:0002179Opisthotonus1SIGMAR1 CL E G H10280614373Amyotrophic lateral sclerosis 16, juvenile614373C3280587OMIM12478157601978
HP:0001257HP:0002191Progressive spasticity1SIGMAR1 CL E G H10280614373Amyotrophic lateral sclerosis 16, juvenile614373C3280587OMIM12478157601978
HP:0001257HP:0001264Spastic diplegia1SIGMAR1 CL E G H10280614373Amyotrophic lateral sclerosis 16, juvenile614373C3280587OMIM12478157601978
HP:0001257HP:0002464Spastic dysarthria1SIGMAR1 CL E G H10280614373Amyotrophic lateral sclerosis 16, juvenile614373C3280587OMIM12478157601978
HP:0001257HP:0002064Spastic gait1SIGMAR1 CL E G H10280614373Amyotrophic lateral sclerosis 16, juvenile614373C3280587OMIM12478157601978
HP:0001257HP:0011099Spastic hemiparesis1SIGMAR1 CL E G H10280614373Amyotrophic lateral sclerosis 16, juvenile614373C3280587OMIM12478157601978
HP:0001257HP:0001285Spastic tetraparesis1SIGMAR1 CL E G H10280614373Amyotrophic lateral sclerosis 16, juvenile614373C3280587OMIM12478157601978
HP:0001257HP:0002510Spastic tetraplegia1SIGMAR1 CL E G H10280614373Amyotrophic lateral sclerosis 16, juvenile614373C3280587OMIM12478157601978
HP:0001257HP:0002501Spasticity of pharyngeal muscles1SIGMAR1 CL E G H10280614373Amyotrophic lateral sclerosis 16, juvenile614373C3280587OMIM12478157601978
HP:0001257HP:0006986Upper limb spasticity1SIGMAR1 CL E G H10280614373Amyotrophic lateral sclerosis 16, juvenile614373C3280587OMIM12478157601978
HP:0001257HP:0002491Spasticity of facial muscles1SIGMAR1 CL E G H10280300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA12478157601978
HP:0001257HP:0031866Clasp-knife sign1SIGMAR1 CL E G H10280300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA12478157601978
HP:0001257HP:0002061Lower limb spasticity1SIGMAR1 CL E G H10280300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA12478157601978
HP:0001257HP:0002179Opisthotonus1SIGMAR1 CL E G H10280300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA12478157601978
HP:0001257HP:0002191Progressive spasticity1SIGMAR1 CL E G H10280300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA12478157601978
HP:0001257HP:0001264Spastic diplegia1SIGMAR1 CL E G H10280300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA12478157601978
HP:0001257HP:0002464Spastic dysarthria1SIGMAR1 CL E G H10280300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA12478157601978
HP:0001257HP:0002064Spastic gait1SIGMAR1 CL E G H10280300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA12478157601978
HP:0001257HP:0011099Spastic hemiparesis1SIGMAR1 CL E G H10280300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA12478157601978
HP:0001257HP:0001285Spastic tetraparesis1SIGMAR1 CL E G H10280300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA12478157601978
HP:0001257HP:0002510Spastic tetraplegia1SIGMAR1 CL E G H10280300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA12478157601978
HP:0001257HP:0002501Spasticity of pharyngeal muscles1SIGMAR1 CL E G H10280300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA12478157601978
HP:0001257HP:0006986Upper limb spasticity1SIGMAR1 CL E G H10280300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA12478157601978
HP:0001257HP:0002491Spasticity of facial muscles1SIL1 CL E G H64374559ORPHA135224624608005
HP:0001257HP:0031866Clasp-knife sign1SIL1 CL E G H64374559ORPHA135224624608005
HP:0001257HP:0002061Lower limb spasticity1SIL1 CL E G H64374559ORPHA135224624608005
HP:0001257HP:0002179Opisthotonus1SIL1 CL E G H64374559ORPHA135224624608005
HP:0001257HP:0002191Progressive spasticity1SIL1 CL E G H64374559ORPHA135224624608005
HP:0001257HP:0001264Spastic diplegia1SIL1 CL E G H64374559ORPHA135224624608005
HP:0001257HP:0002464Spastic dysarthria1SIL1 CL E G H64374559ORPHA135224624608005
HP:0001257HP:0002064Spastic gait1SIL1 CL E G H64374559ORPHA135224624608005
HP:0001257HP:0011099Spastic hemiparesis1SIL1 CL E G H64374559ORPHA135224624608005
HP:0001257HP:0001285Spastic tetraparesis1SIL1 CL E G H64374559ORPHA135224624608005
HP:0001257HP:0002510Spastic tetraplegia1SIL1 CL E G H64374559ORPHA135224624608005
HP:0001257HP:0002501Spasticity of pharyngeal muscles1SIL1 CL E G H64374559ORPHA135224624608005
HP:0001257HP:0006986Upper limb spasticity1SIL1 CL E G H64374559ORPHA135224624608005
HP:0001257HP:0002491Spasticity of facial muscles1SIL1 CL E G H64374248800Marinesco-Sjögren syndrome248800C0024814OMIM135224624608005
HP:0001257HP:0031866Clasp-knife sign1SIL1 CL E G H64374248800Marinesco-Sjögren syndrome248800C0024814OMIM135224624608005
HP:0001257HP:0002061Lower limb spasticity1SIL1 CL E G H64374248800Marinesco-Sjögren syndrome248800C0024814OMIM135224624608005
HP:0001257HP:0002179Opisthotonus1SIL1 CL E G H64374248800Marinesco-Sjögren syndrome248800C0024814OMIM135224624608005
HP:0001257HP:0002191Progressive spasticity1SIL1 CL E G H64374248800Marinesco-Sjögren syndrome248800C0024814OMIM135224624608005
HP:0001257HP:0001264Spastic diplegia1SIL1 CL E G H64374248800Marinesco-Sjögren syndrome248800C0024814OMIM135224624608005
HP:0001257HP:0002464Spastic dysarthria1SIL1 CL E G H64374248800Marinesco-Sjögren syndrome248800C0024814OMIM135224624608005
HP:0001257HP:0002064Spastic gait1SIL1 CL E G H64374248800Marinesco-Sjögren syndrome248800C0024814OMIM135224624608005
HP:0001257HP:0011099Spastic hemiparesis1SIL1 CL E G H64374248800Marinesco-Sjögren syndrome248800C0024814OMIM135224624608005
HP:0001257HP:0001285Spastic tetraparesis1SIL1 CL E G H64374248800Marinesco-Sjögren syndrome248800C0024814OMIM135224624608005
HP:0001257HP:0002510Spastic tetraplegia1SIL1 CL E G H64374248800Marinesco-Sjögren syndrome248800C0024814OMIM135224624608005
HP:0001257HP:0002501Spasticity of pharyngeal muscles1SIL1 CL E G H64374248800Marinesco-Sjögren syndrome248800C0024814OMIM135224624608005
HP:0001257HP:0006986Upper limb spasticity1SIL1 CL E G H64374248800Marinesco-Sjögren syndrome248800C0024814OMIM135224624608005
HP:0001257HP:0002491Spasticity of facial muscles1SLC13A5 CL E G H2841111946ORPHA168523089608305
HP:0001257HP:0031866Clasp-knife sign1SLC13A5 CL E G H2841111946ORPHA168523089608305
HP:0001257HP:0002061Lower limb spasticity1SLC13A5 CL E G H2841111946ORPHA168523089608305
HP:0001257HP:0002179Opisthotonus1SLC13A5 CL E G H2841111946ORPHA168523089608305
HP:0001257HP:0002191Progressive spasticity1SLC13A5 CL E G H2841111946ORPHA168523089608305
HP:0001257HP:0001264Spastic diplegia1SLC13A5 CL E G H2841111946ORPHA168523089608305
HP:0001257HP:0002464Spastic dysarthria1SLC13A5 CL E G H2841111946ORPHA168523089608305
HP:0001257HP:0002064Spastic gait1SLC13A5 CL E G H2841111946ORPHA168523089608305
HP:0001257HP:0011099Spastic hemiparesis1SLC13A5 CL E G H2841111946ORPHA168523089608305
HP:0001257HP:0001285Spastic tetraparesis1SLC13A5 CL E G H2841111946ORPHA168523089608305
HP:0001257HP:0002510Spastic tetraplegia1SLC13A5 CL E G H2841111946ORPHA168523089608305
HP:0001257HP:0002501Spasticity of pharyngeal muscles1SLC13A5 CL E G H2841111946ORPHA168523089608305
HP:0001257HP:0006986Upper limb spasticity1SLC13A5 CL E G H2841111946ORPHA168523089608305
HP:0001257HP:0002491Spasticity of facial muscles1SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0001257HP:0031866Clasp-knife sign1SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0001257HP:0002061Lower limb spasticity1SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0001257HP:0002179Opisthotonus1SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0001257HP:0002191Progressive spasticity1SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0001257HP:0001264Spastic diplegia1SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0001257HP:0002464Spastic dysarthria1SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0001257HP:0002064Spastic gait1SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0001257HP:0011099Spastic hemiparesis1SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0001257HP:0001285Spastic tetraparesis1SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0001257HP:0002510Spastic tetraplegia1SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0001257HP:0002501Spasticity of pharyngeal muscles1SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0001257HP:0006986Upper limb spasticity1SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0001257HP:0002491Spasticity of facial muscles1SLC17A5 CL E G H26503604369Salla disease604369C1096903OMIM152010933604322
HP:0001257HP:0031866Clasp-knife sign1SLC17A5 CL E G H26503604369Salla disease604369C1096903OMIM152010933604322
HP:0001257HP:0002061Lower limb spasticity1SLC17A5 CL E G H26503604369Salla disease604369C1096903OMIM152010933604322
HP:0001257HP:0002179Opisthotonus1SLC17A5 CL E G H26503604369Salla disease604369C1096903OMIM152010933604322
HP:0001257HP:0002191Progressive spasticity1SLC17A5 CL E G H26503604369Salla disease604369C1096903OMIM152010933604322
HP:0001257HP:0001264Spastic diplegia1SLC17A5 CL E G H26503604369Salla disease604369C1096903OMIM152010933604322
HP:0001257HP:0002464Spastic dysarthria1SLC17A5 CL E G H26503604369Salla disease604369C1096903OMIM152010933604322
HP:0001257HP:0002064Spastic gait1SLC17A5 CL E G H26503604369Salla disease604369C1096903OMIM152010933604322
HP:0001257HP:0011099Spastic hemiparesis1SLC17A5 CL E G H26503604369Salla disease604369C1096903OMIM152010933604322
HP:0001257HP:0001285Spastic tetraparesis1SLC17A5 CL E G H26503604369Salla disease604369C1096903OMIM152010933604322
HP:0001257HP:0002510Spastic tetraplegia1SLC17A5 CL E G H26503604369Salla disease604369C1096903OMIM152010933604322
HP:0001257HP:0002501Spasticity of pharyngeal muscles1SLC17A5 CL E G H26503604369Salla disease604369C1096903OMIM152010933604322
HP:0001257HP:0006986Upper limb spasticity1SLC17A5 CL E G H26503604369Salla disease604369C1096903OMIM152010933604322
HP:0001257HP:0002491Spasticity of facial muscles1SLC25A12 CL E G H8604612949Hypomyelination, global cerebral612949C2751855OMIM145110982603667
HP:0001257HP:0031866Clasp-knife sign1SLC25A12 CL E G H8604612949Hypomyelination, global cerebral612949C2751855OMIM145110982603667
HP:0001257HP:0002061Lower limb spasticity1SLC25A12 CL E G H8604612949Hypomyelination, global cerebral612949C2751855OMIM145110982603667
HP:0001257HP:0002179Opisthotonus1SLC25A12 CL E G H8604612949Hypomyelination, global cerebral612949C2751855OMIM145110982603667
HP:0001257HP:0002191Progressive spasticity1SLC25A12 CL E G H8604612949Hypomyelination, global cerebral612949C2751855OMIM145110982603667
HP:0001257HP:0001264Spastic diplegia1SLC25A12 CL E G H8604612949Hypomyelination, global cerebral612949C2751855OMIM145110982603667
HP:0001257HP:0002464Spastic dysarthria1SLC25A12 CL E G H8604612949Hypomyelination, global cerebral612949C2751855OMIM145110982603667
HP:0001257HP:0002064Spastic gait1SLC25A12 CL E G H8604612949Hypomyelination, global cerebral612949C2751855OMIM145110982603667
HP:0001257HP:0011099Spastic hemiparesis1SLC25A12 CL E G H8604612949Hypomyelination, global cerebral612949C2751855OMIM145110982603667
HP:0001257HP:0001285Spastic tetraparesis1SLC25A12 CL E G H8604612949Hypomyelination, global cerebral612949C2751855OMIM145110982603667
HP:0001257HP:0002510Spastic tetraplegia1SLC25A12 CL E G H8604612949Hypomyelination, global cerebral612949C2751855OMIM145110982603667
HP:0001257HP:0002501Spasticity of pharyngeal muscles1SLC25A12 CL E G H8604612949Hypomyelination, global cerebral612949C2751855OMIM145110982603667
HP:0001257HP:0006986Upper limb spasticity1SLC25A12 CL E G H8604612949Hypomyelination, global cerebral612949C2751855OMIM145110982603667
HP:0001257HP:0002491Spasticity of facial muscles1SLC25A22 CL E G H79751609304Early myoclonic encephalopathy609304C0270855OMIM155119954609302
HP:0001257HP:0031866Clasp-knife sign1SLC25A22 CL E G H79751609304Early myoclonic encephalopathy609304C0270855OMIM155119954609302
HP:0001257HP:0002061Lower limb spasticity1SLC25A22 CL E G H79751609304Early myoclonic encephalopathy609304C0270855OMIM155119954609302
HP:0001257HP:0002179Opisthotonus1SLC25A22 CL E G H79751609304Early myoclonic encephalopathy609304C0270855OMIM155119954609302
HP:0001257HP:0002191Progressive spasticity1SLC25A22 CL E G H79751609304Early myoclonic encephalopathy609304C0270855OMIM155119954609302
HP:0001257HP:0001264Spastic diplegia1SLC25A22 CL E G H79751609304Early myoclonic encephalopathy609304C0270855OMIM155119954609302
HP:0001257HP:0002464Spastic dysarthria1SLC25A22 CL E G H79751609304Early myoclonic encephalopathy609304C0270855OMIM155119954609302
HP:0001257HP:0002064Spastic gait1SLC25A22 CL E G H79751609304Early myoclonic encephalopathy609304C0270855OMIM155119954609302
HP:0001257HP:0011099Spastic hemiparesis1SLC25A22 CL E G H79751609304Early myoclonic encephalopathy609304C0270855OMIM155119954609302
HP:0001257HP:0001285Spastic tetraparesis1SLC25A22 CL E G H79751609304Early myoclonic encephalopathy609304C0270855OMIM155119954609302
HP:0001257HP:0002510Spastic tetraplegia1SLC25A22 CL E G H79751609304Early myoclonic encephalopathy609304C0270855OMIM155119954609302
HP:0001257HP:0002501Spasticity of pharyngeal muscles1SLC25A22 CL E G H79751609304Early myoclonic encephalopathy609304C0270855OMIM155119954609302
HP:0001257HP:0006986Upper limb spasticity1SLC25A22 CL E G H79751609304Early myoclonic encephalopathy609304C0270855OMIM155119954609302
HP:0001257HP:0002491Spasticity of facial muscles1SLC2A1 CL E G H651371277ORPHA196511005138140
HP:0001257HP:0031866Clasp-knife sign1SLC2A1 CL E G H651371277ORPHA196511005138140
HP:0001257HP:0002061Lower limb spasticity1SLC2A1 CL E G H651371277ORPHA196511005138140
HP:0001257HP:0002179Opisthotonus1SLC2A1 CL E G H651371277ORPHA196511005138140
HP:0001257HP:0002191Progressive spasticity1SLC2A1 CL E G H651371277ORPHA196511005138140
HP:0001257HP:0001264Spastic diplegia1SLC2A1 CL E G H651371277ORPHA196511005138140
HP:0001257HP:0002464Spastic dysarthria1SLC2A1 CL E G H651371277ORPHA196511005138140
HP:0001257HP:0002064Spastic gait1SLC2A1 CL E G H651371277ORPHA196511005138140
HP:0001257HP:0011099Spastic hemiparesis1SLC2A1 CL E G H651371277ORPHA196511005138140
HP:0001257HP:0001285Spastic tetraparesis1SLC2A1 CL E G H651371277ORPHA196511005138140
HP:0001257HP:0002510Spastic tetraplegia1SLC2A1 CL E G H651371277ORPHA196511005138140
HP:0001257HP:0002501Spasticity of pharyngeal muscles1SLC2A1 CL E G H651371277ORPHA196511005138140
HP:0001257HP:0006986Upper limb spasticity1SLC2A1 CL E G H651371277ORPHA196511005138140
HP:0001257HP:0002491Spasticity of facial muscles1SLC2A1 CL E G H6513606777GLUT1 deficiency syndrome 1606777CN030711OMIM196511005138140
HP:0001257HP:0031866Clasp-knife sign1SLC2A1 CL E G H6513606777GLUT1 deficiency syndrome 1606777CN030711OMIM196511005138140
HP:0001257HP:0002061Lower limb spasticity1SLC2A1 CL E G H6513606777GLUT1 deficiency syndrome 1606777CN030711OMIM196511005138140
HP:0001257HP:0002179Opisthotonus1SLC2A1 CL E G H6513606777GLUT1 deficiency syndrome 1606777CN030711OMIM196511005138140
HP:0001257HP:0002191Progressive spasticity1SLC2A1 CL E G H6513606777GLUT1 deficiency syndrome 1606777CN030711OMIM196511005138140
HP:0001257HP:0001264Spastic diplegia1SLC2A1 CL E G H6513606777GLUT1 deficiency syndrome 1606777CN030711OMIM196511005138140
HP:0001257HP:0002464Spastic dysarthria1SLC2A1 CL E G H6513606777GLUT1 deficiency syndrome 1606777CN030711OMIM196511005138140
HP:0001257HP:0002064Spastic gait1SLC2A1 CL E G H6513606777GLUT1 deficiency syndrome 1606777CN030711OMIM196511005138140
HP:0001257HP:0011099Spastic hemiparesis1SLC2A1 CL E G H6513606777GLUT1 deficiency syndrome 1606777CN030711OMIM196511005138140
HP:0001257HP:0001285Spastic tetraparesis1SLC2A1 CL E G H6513606777GLUT1 deficiency syndrome 1606777CN030711OMIM196511005138140
HP:0001257HP:0002510Spastic tetraplegia1SLC2A1 CL E G H6513606777GLUT1 deficiency syndrome 1606777CN030711OMIM196511005138140
HP:0001257HP:0002501Spasticity of pharyngeal muscles1SLC2A1 CL E G H6513606777GLUT1 deficiency syndrome 1606777CN030711OMIM196511005138140
HP:0001257HP:0006986Upper limb spasticity1SLC2A1 CL E G H6513606777GLUT1 deficiency syndrome 1606777CN030711OMIM196511005138140
HP:0001257HP:0002491Spasticity of facial muscles1SLC2A1 CL E G H6513608885Stomatin-deficient cryohydrocytosis with neurologic defects608885C1837206OMIM196511005138140
HP:0001257HP:0031866Clasp-knife sign1SLC2A1 CL E G H6513608885Stomatin-deficient cryohydrocytosis with neurologic defects608885C1837206OMIM196511005138140
HP:0001257HP:0002061Lower limb spasticity1SLC2A1 CL E G H6513608885Stomatin-deficient cryohydrocytosis with neurologic defects608885C1837206OMIM196511005138140
HP:0001257HP:0002179Opisthotonus1SLC2A1 CL E G H6513608885Stomatin-deficient cryohydrocytosis with neurologic defects608885C1837206OMIM196511005138140
HP:0001257HP:0002191Progressive spasticity1SLC2A1 CL E G H6513608885Stomatin-deficient cryohydrocytosis with neurologic defects608885C1837206OMIM196511005138140
HP:0001257HP:0001264Spastic diplegia1SLC2A1 CL E G H6513608885Stomatin-deficient cryohydrocytosis with neurologic defects608885C1837206OMIM196511005138140
HP:0001257HP:0002464Spastic dysarthria1SLC2A1 CL E G H6513608885Stomatin-deficient cryohydrocytosis with neurologic defects608885C1837206OMIM196511005138140
HP:0001257HP:0002064Spastic gait1SLC2A1 CL E G H6513608885Stomatin-deficient cryohydrocytosis with neurologic defects608885C1837206OMIM196511005138140
HP:0001257HP:0011099Spastic hemiparesis1SLC2A1 CL E G H6513608885Stomatin-deficient cryohydrocytosis with neurologic defects608885C1837206OMIM196511005138140
HP:0001257HP:0001285Spastic tetraparesis1SLC2A1 CL E G H6513608885Stomatin-deficient cryohydrocytosis with neurologic defects608885C1837206OMIM196511005138140
HP:0001257HP:0002510Spastic tetraplegia1SLC2A1 CL E G H6513608885Stomatin-deficient cryohydrocytosis with neurologic defects608885C1837206OMIM196511005138140
HP:0001257HP:0002501Spasticity of pharyngeal muscles1SLC2A1 CL E G H6513608885Stomatin-deficient cryohydrocytosis with neurologic defects608885C1837206OMIM196511005138140
HP:0001257HP:0006986Upper limb spasticity1SLC2A1 CL E G H6513608885Stomatin-deficient cryohydrocytosis with neurologic defects608885C1837206OMIM196511005138140
HP:0001257HP:0002491Spasticity of facial muscles1SLC2A3 CL E G H651539946,XX testicular disorder of sex developmentC2936420ORPHA19011007138170
HP:0001257HP:0031866Clasp-knife sign1SLC2A3 CL E G H651539946,XX testicular disorder of sex developmentC2936420ORPHA19011007138170
HP:0001257HP:0002061Lower limb spasticity1SLC2A3 CL E G H651539946,XX testicular disorder of sex developmentC2936420ORPHA19011007138170
HP:0001257HP:0002179Opisthotonus1SLC2A3 CL E G H651539946,XX testicular disorder of sex developmentC2936420ORPHA19011007138170
HP:0001257HP:0002191Progressive spasticity1SLC2A3 CL E G H651539946,XX testicular disorder of sex developmentC2936420ORPHA19011007138170
HP:0001257HP:0001264Spastic diplegia1SLC2A3 CL E G H651539946,XX testicular disorder of sex developmentC2936420ORPHA19011007138170
HP:0001257HP:0002464Spastic dysarthria1SLC2A3 CL E G H651539946,XX testicular disorder of sex developmentC2936420ORPHA19011007138170
HP:0001257HP:0002064Spastic gait1SLC2A3 CL E G H651539946,XX testicular disorder of sex developmentC2936420ORPHA19011007138170
HP:0001257HP:0011099Spastic hemiparesis1SLC2A3 CL E G H651539946,XX testicular disorder of sex developmentC2936420ORPHA19011007138170
HP:0001257HP:0001285Spastic tetraparesis1SLC2A3 CL E G H651539946,XX testicular disorder of sex developmentC2936420ORPHA19011007138170
HP:0001257HP:0002510Spastic tetraplegia1SLC2A3 CL E G H651539946,XX testicular disorder of sex developmentC2936420ORPHA19011007138170
HP:0001257HP:0002501Spasticity of pharyngeal muscles1SLC2A3 CL E G H651539946,XX testicular disorder of sex developmentC2936420ORPHA19011007138170
HP:0001257HP:0006986Upper limb spasticity1SLC2A3 CL E G H651539946,XX testicular disorder of sex developmentC2936420ORPHA19011007138170
HP:0001257HP:0002491Spasticity of facial muscles1SLC39A14 CL E G H23516617013Hypermanganesemia with dystonia 2617013C4310765OMIM127020858608736
HP:0001257HP:0031866Clasp-knife sign1SLC39A14 CL E G H23516617013Hypermanganesemia with dystonia 2617013C4310765OMIM127020858608736
HP:0001257HP:0002061Lower limb spasticity1SLC39A14 CL E G H23516617013Hypermanganesemia with dystonia 2617013C4310765OMIM127020858608736
HP:0001257HP:0002179Opisthotonus1SLC39A14 CL E G H23516617013Hypermanganesemia with dystonia 2617013C4310765OMIM127020858608736
HP:0001257HP:0002191Progressive spasticity1SLC39A14 CL E G H23516617013Hypermanganesemia with dystonia 2617013C4310765OMIM127020858608736
HP:0001257HP:0001264Spastic diplegia1SLC39A14 CL E G H23516617013Hypermanganesemia with dystonia 2617013C4310765OMIM127020858608736
HP:0001257HP:0002464Spastic dysarthria1SLC39A14 CL E G H23516617013Hypermanganesemia with dystonia 2617013C4310765OMIM127020858608736
HP:0001257HP:0002064Spastic gait1SLC39A14 CL E G H23516617013Hypermanganesemia with dystonia 2617013C4310765OMIM127020858608736
HP:0001257HP:0011099Spastic hemiparesis1SLC39A14 CL E G H23516617013Hypermanganesemia with dystonia 2617013C4310765OMIM127020858608736
HP:0001257HP:0001285Spastic tetraparesis1SLC39A14 CL E G H23516617013Hypermanganesemia with dystonia 2617013C4310765OMIM127020858608736
HP:0001257HP:0002510Spastic tetraplegia1SLC39A14 CL E G H23516617013Hypermanganesemia with dystonia 2617013C4310765OMIM127020858608736
HP:0001257HP:0002501Spasticity of pharyngeal muscles1SLC39A14 CL E G H23516617013Hypermanganesemia with dystonia 2617013C4310765OMIM127020858608736
HP:0001257HP:0006986Upper limb spasticity1SLC39A14 CL E G H23516617013Hypermanganesemia with dystonia 2617013C4310765OMIM127020858608736
HP:0001257HP:0002491Spasticity of facial muscles1SLC6A5 CL E G H91523197Lateral body wall defectORPHA171811051604159
HP:0001257HP:0031866Clasp-knife sign1SLC6A5 CL E G H91523197Lateral body wall defectORPHA171811051604159
HP:0001257HP:0002061Lower limb spasticity1SLC6A5 CL E G H91523197Lateral body wall defectORPHA171811051604159
HP:0001257HP:0002179Opisthotonus1SLC6A5 CL E G H91523197Lateral body wall defectORPHA171811051604159
HP:0001257HP:0002191Progressive spasticity1SLC6A5 CL E G H91523197Lateral body wall defectORPHA171811051604159
HP:0001257HP:0001264Spastic diplegia1SLC6A5 CL E G H91523197Lateral body wall defectORPHA171811051604159
HP:0001257HP:0002464Spastic dysarthria1SLC6A5 CL E G H91523197Lateral body wall defectORPHA171811051604159
HP:0001257HP:0002064Spastic gait1SLC6A5 CL E G H91523197Lateral body wall defectORPHA171811051604159
HP:0001257HP:0011099Spastic hemiparesis1SLC6A5 CL E G H91523197Lateral body wall defectORPHA171811051604159
HP:0001257HP:0001285Spastic tetraparesis1SLC6A5 CL E G H91523197Lateral body wall defectORPHA171811051604159
HP:0001257HP:0002510Spastic tetraplegia1SLC6A5 CL E G H91523197Lateral body wall defectORPHA171811051604159
HP:0001257HP:0002501Spasticity of pharyngeal muscles1SLC6A5 CL E G H91523197Lateral body wall defectORPHA171811051604159
HP:0001257HP:0006986Upper limb spasticity1SLC6A5 CL E G H91523197Lateral body wall defectORPHA171811051604159
HP:0001257HP:0002491Spasticity of facial muscles1SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM1106211055300036
HP:0001257HP:0031866Clasp-knife sign1SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM1106211055300036
HP:0001257HP:0002061Lower limb spasticity1SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM1106211055300036
HP:0001257HP:0002179Opisthotonus1SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM1106211055300036
HP:0001257HP:0002191Progressive spasticity1SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM1106211055300036
HP:0001257HP:0001264Spastic diplegia1SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM1106211055300036
HP:0001257HP:0002464Spastic dysarthria1SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM1106211055300036
HP:0001257HP:0002064Spastic gait1SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM1106211055300036
HP:0001257HP:0011099Spastic hemiparesis1SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM1106211055300036
HP:0001257HP:0001285Spastic tetraparesis1SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM1106211055300036
HP:0001257HP:0002510Spastic tetraplegia1SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM1106211055300036
HP:0001257HP:0002501Spasticity of pharyngeal muscles1SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM1106211055300036
HP:0001257HP:0006986Upper limb spasticity1SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM1106211055300036
HP:0001257HP:0002491Spasticity of facial muscles1SMPD1 CL E G H6609257200Niemann-Pick disease, type A257200C0268242OMIM186411120607608
HP:0001257HP:0031866Clasp-knife sign1SMPD1 CL E G H6609257200Niemann-Pick disease, type A257200C0268242OMIM186411120607608
HP:0001257HP:0002061Lower limb spasticity1SMPD1 CL E G H6609257200Niemann-Pick disease, type A257200C0268242OMIM186411120607608
HP:0001257HP:0002179Opisthotonus1SMPD1 CL E G H6609257200Niemann-Pick disease, type A257200C0268242OMIM186411120607608
HP:0001257HP:0002191Progressive spasticity1SMPD1 CL E G H6609257200Niemann-Pick disease, type A257200C0268242OMIM186411120607608
HP:0001257HP:0001264Spastic diplegia1SMPD1 CL E G H6609257200Niemann-Pick disease, type A257200C0268242OMIM186411120607608
HP:0001257HP:0002464Spastic dysarthria1SMPD1 CL E G H6609257200Niemann-Pick disease, type A257200C0268242OMIM186411120607608
HP:0001257HP:0002064Spastic gait1SMPD1 CL E G H6609257200Niemann-Pick disease, type A257200C0268242OMIM186411120607608
HP:0001257HP:0011099Spastic hemiparesis1SMPD1 CL E G H6609257200Niemann-Pick disease, type A257200C0268242OMIM186411120607608
HP:0001257HP:0001285Spastic tetraparesis1SMPD1 CL E G H6609257200Niemann-Pick disease, type A257200C0268242OMIM186411120607608
HP:0001257HP:0002510Spastic tetraplegia1SMPD1 CL E G H6609257200Niemann-Pick disease, type A257200C0268242OMIM186411120607608
HP:0001257HP:0002501Spasticity of pharyngeal muscles1SMPD1 CL E G H6609257200Niemann-Pick disease, type A257200C0268242OMIM186411120607608
HP:0001257HP:0006986Upper limb spasticity1SMPD1 CL E G H6609257200Niemann-Pick disease, type A257200C0268242OMIM186411120607608
HP:0001257HP:0002491Spasticity of facial muscles1SNCA CL E G H6622171695ORPHA119311138163890
HP:0001257HP:0031866Clasp-knife sign1SNCA CL E G H6622171695ORPHA119311138163890
HP:0001257HP:0002061Lower limb spasticity1SNCA CL E G H6622171695ORPHA119311138163890
HP:0001257HP:0002179Opisthotonus1SNCA CL E G H6622171695ORPHA119311138163890
HP:0001257HP:0002191Progressive spasticity1SNCA CL E G H6622171695ORPHA119311138163890
HP:0001257HP:0001264Spastic diplegia1SNCA CL E G H6622171695ORPHA119311138163890
HP:0001257HP:0002464Spastic dysarthria1SNCA CL E G H6622171695ORPHA119311138163890
HP:0001257HP:0002064Spastic gait1SNCA CL E G H6622171695ORPHA119311138163890
HP:0001257HP:0011099Spastic hemiparesis1SNCA CL E G H6622171695ORPHA119311138163890
HP:0001257HP:0001285Spastic tetraparesis1SNCA CL E G H6622171695ORPHA119311138163890
HP:0001257HP:0002510Spastic tetraplegia1SNCA CL E G H6622171695ORPHA119311138163890
HP:0001257HP:0002501Spasticity of pharyngeal muscles1SNCA CL E G H6622171695ORPHA119311138163890
HP:0001257HP:0006986Upper limb spasticity1SNCA CL E G H6622171695ORPHA119311138163890
HP:0001257HP:0002491Spasticity of facial muscles1SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM118932952616663
HP:0001257HP:0031866Clasp-knife sign1SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM118932952616663
HP:0001257HP:0002061Lower limb spasticity1SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM118932952616663
HP:0001257HP:0002179Opisthotonus1SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM118932952616663
HP:0001257HP:0002191Progressive spasticity1SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM118932952616663
HP:0001257HP:0001264Spastic diplegia1SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM118932952616663
HP:0001257HP:0002464Spastic dysarthria1SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM118932952616663
HP:0001257HP:0002064Spastic gait1SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM118932952616663
HP:0001257HP:0011099Spastic hemiparesis1SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM118932952616663
HP:0001257HP:0001285Spastic tetraparesis1SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM118932952616663
HP:0001257HP:0002510Spastic tetraplegia1SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM118932952616663
HP:0001257HP:0002501Spasticity of pharyngeal muscles1SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM118932952616663
HP:0001257HP:0006986Upper limb spasticity1SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM118932952616663
HP:0001257HP:0002491Spasticity of facial muscles1SNX14 CL E G H57231616354Spinocerebellar ataxia, autosomal recessive 20616354C4225355OMIM127014977616105
HP:0001257HP:0031866Clasp-knife sign1SNX14 CL E G H57231616354Spinocerebellar ataxia, autosomal recessive 20616354C4225355OMIM127014977616105
HP:0001257HP:0002061Lower limb spasticity1SNX14 CL E G H57231616354Spinocerebellar ataxia, autosomal recessive 20616354C4225355OMIM127014977616105
HP:0001257HP:0002179Opisthotonus1SNX14 CL E G H57231616354Spinocerebellar ataxia, autosomal recessive 20616354C4225355OMIM127014977616105
HP:0001257HP:0002191Progressive spasticity1SNX14 CL E G H57231616354Spinocerebellar ataxia, autosomal recessive 20616354C4225355OMIM127014977616105
HP:0001257HP:0001264Spastic diplegia1SNX14 CL E G H57231616354Spinocerebellar ataxia, autosomal recessive 20616354C4225355OMIM127014977616105
HP:0001257HP:0002464Spastic dysarthria1SNX14 CL E G H57231616354Spinocerebellar ataxia, autosomal recessive 20616354C4225355OMIM127014977616105
HP:0001257HP:0002064Spastic gait1SNX14 CL E G H57231616354Spinocerebellar ataxia, autosomal recessive 20616354C4225355OMIM127014977616105
HP:0001257HP:0011099Spastic hemiparesis1SNX14 CL E G H57231616354Spinocerebellar ataxia, autosomal recessive 20616354C4225355OMIM127014977616105
HP:0001257HP:0001285Spastic tetraparesis1SNX14 CL E G H57231616354Spinocerebellar ataxia, autosomal recessive 20616354C4225355OMIM127014977616105
HP:0001257HP:0002510Spastic tetraplegia1SNX14 CL E G H57231616354Spinocerebellar ataxia, autosomal recessive 20616354C4225355OMIM127014977616105
HP:0001257HP:0002501Spasticity of pharyngeal muscles1SNX14 CL E G H57231616354Spinocerebellar ataxia, autosomal recessive 20616354C4225355OMIM127014977616105
HP:0001257HP:0006986Upper limb spasticity1SNX14 CL E G H57231616354Spinocerebellar ataxia, autosomal recessive 20616354C4225355OMIM127014977616105
HP:0001257HP:0002491Spasticity of facial muscles1SOD1 CL E G H6647803ORPHA129411179147450
HP:0001257HP:0031866Clasp-knife sign1SOD1 CL E G H6647803ORPHA129411179147450
HP:0001257HP:0002061Lower limb spasticity1SOD1 CL E G H6647803ORPHA129411179147450
HP:0001257HP:0002179Opisthotonus1SOD1 CL E G H6647803ORPHA129411179147450
HP:0001257HP:0002191Progressive spasticity1SOD1 CL E G H6647803ORPHA129411179147450
HP:0001257HP:0001264Spastic diplegia1SOD1 CL E G H6647803ORPHA129411179147450
HP:0001257HP:0002464Spastic dysarthria1SOD1 CL E G H6647803ORPHA129411179147450
HP:0001257HP:0002064Spastic gait1SOD1 CL E G H6647803ORPHA129411179147450
HP:0001257HP:0011099Spastic hemiparesis1SOD1 CL E G H6647803ORPHA129411179147450
HP:0001257HP:0001285Spastic tetraparesis1SOD1 CL E G H6647803ORPHA129411179147450
HP:0001257HP:0002510Spastic tetraplegia1SOD1 CL E G H6647803ORPHA129411179147450
HP:0001257HP:0002501Spasticity of pharyngeal muscles1SOD1 CL E G H6647803ORPHA129411179147450
HP:0001257HP:0006986Upper limb spasticity1SOD1 CL E G H6647803ORPHA129411179147450
HP:0001257HP:0002491Spasticity of facial muscles1SOD1 CL E G H6647105400Amyotrophic lateral sclerosis type 1105400C1862939OMIM129411179147450
HP:0001257HP:0031866Clasp-knife sign1SOD1 CL E G H6647105400Amyotrophic lateral sclerosis type 1105400C1862939OMIM129411179147450
HP:0001257HP:0002061Lower limb spasticity1SOD1 CL E G H6647105400Amyotrophic lateral sclerosis type 1105400C1862939OMIM129411179147450
HP:0001257HP:0002179Opisthotonus1SOD1 CL E G H6647105400Amyotrophic lateral sclerosis type 1105400C1862939OMIM129411179147450
HP:0001257HP:0002191Progressive spasticity1SOD1 CL E G H6647105400Amyotrophic lateral sclerosis type 1105400C1862939OMIM129411179147450
HP:0001257HP:0001264Spastic diplegia1SOD1 CL E G H6647105400Amyotrophic lateral sclerosis type 1105400C1862939OMIM129411179147450
HP:0001257HP:0002464Spastic dysarthria1SOD1 CL E G H6647105400Amyotrophic lateral sclerosis type 1105400C1862939OMIM129411179147450
HP:0001257HP:0002064Spastic gait1SOD1 CL E G H6647105400Amyotrophic lateral sclerosis type 1105400C1862939OMIM129411179147450
HP:0001257HP:0011099Spastic hemiparesis1SOD1 CL E G H6647105400Amyotrophic lateral sclerosis type 1105400C1862939OMIM129411179147450
HP:0001257HP:0001285Spastic tetraparesis1SOD1 CL E G H6647105400Amyotrophic lateral sclerosis type 1105400C1862939OMIM129411179147450
HP:0001257HP:0002510Spastic tetraplegia1SOD1 CL E G H6647105400Amyotrophic lateral sclerosis type 1105400C1862939OMIM129411179147450
HP:0001257HP:0002501Spasticity of pharyngeal muscles1SOD1 CL E G H6647105400Amyotrophic lateral sclerosis type 1105400C1862939OMIM129411179147450
HP:0001257HP:0006986Upper limb spasticity1SOD1 CL E G H6647105400Amyotrophic lateral sclerosis type 1105400C1862939OMIM129411179147450
HP:0001257HP:0002491Spasticity of facial muscles1SOX10 CL E G H6663163746ORPHA137811190602229
HP:0001257HP:0031866Clasp-knife sign1SOX10 CL E G H6663163746ORPHA137811190602229
HP:0001257HP:0002061Lower limb spasticity1SOX10 CL E G H6663163746ORPHA137811190602229
HP:0001257HP:0002179Opisthotonus1SOX10 CL E G H6663163746ORPHA137811190602229
HP:0001257HP:0002191Progressive spasticity1SOX10 CL E G H6663163746ORPHA137811190602229
HP:0001257HP:0001264Spastic diplegia1SOX10 CL E G H6663163746ORPHA137811190602229
HP:0001257HP:0002464Spastic dysarthria1SOX10 CL E G H6663163746ORPHA137811190602229
HP:0001257HP:0002064Spastic gait1SOX10 CL E G H6663163746ORPHA137811190602229
HP:0001257HP:0011099Spastic hemiparesis1SOX10 CL E G H6663163746ORPHA137811190602229
HP:0001257HP:0001285Spastic tetraparesis1SOX10 CL E G H6663163746ORPHA137811190602229
HP:0001257HP:0002510Spastic tetraplegia1SOX10 CL E G H6663163746ORPHA137811190602229
HP:0001257HP:0002501Spasticity of pharyngeal muscles1SOX10 CL E G H6663163746ORPHA137811190602229
HP:0001257HP:0006986Upper limb spasticity1SOX10 CL E G H6663163746ORPHA137811190602229
HP:0001257HP:0002491Spasticity of facial muscles1SPATA5 CL E G H166378616577Epilepsy, hearing loss, and mental retardation syndrome616577C4225276OMIM118119613940
HP:0001257HP:0031866Clasp-knife sign1SPATA5 CL E G H166378616577Epilepsy, hearing loss, and mental retardation syndrome616577C4225276OMIM118119613940
HP:0001257HP:0002061Lower limb spasticity1SPATA5 CL E G H166378616577Epilepsy, hearing loss, and mental retardation syndrome616577C4225276OMIM118119613940
HP:0001257HP:0002179Opisthotonus1SPATA5 CL E G H166378616577Epilepsy, hearing loss, and mental retardation syndrome616577C4225276OMIM118119613940
HP:0001257HP:0002191Progressive spasticity1SPATA5 CL E G H166378616577Epilepsy, hearing loss, and mental retardation syndrome616577C4225276OMIM118119613940
HP:0001257HP:0001264Spastic diplegia1SPATA5 CL E G H166378616577Epilepsy, hearing loss, and mental retardation syndrome616577C4225276OMIM118119613940
HP:0001257HP:0002464Spastic dysarthria1SPATA5 CL E G H166378616577Epilepsy, hearing loss, and mental retardation syndrome616577C4225276OMIM118119613940
HP:0001257HP:0002064Spastic gait1SPATA5 CL E G H166378616577Epilepsy, hearing loss, and mental retardation syndrome616577C4225276OMIM118119613940
HP:0001257HP:0011099Spastic hemiparesis1SPATA5 CL E G H166378616577Epilepsy, hearing loss, and mental retardation syndrome616577C4225276OMIM118119613940
HP:0001257HP:0001285Spastic tetraparesis1SPATA5 CL E G H166378616577Epilepsy, hearing loss, and mental retardation syndrome616577C4225276OMIM118119613940
HP:0001257HP:0002510Spastic tetraplegia1SPATA5 CL E G H166378616577Epilepsy, hearing loss, and mental retardation syndrome616577C4225276OMIM118119613940
HP:0001257HP:0002501Spasticity of pharyngeal muscles1SPATA5 CL E G H166378616577Epilepsy, hearing loss, and mental retardation syndrome616577C4225276OMIM118119613940
HP:0001257HP:0006986Upper limb spasticity1SPATA5 CL E G H166378616577Epilepsy, hearing loss, and mental retardation syndrome616577C4225276OMIM118119613940
HP:0001257HP:0002491Spasticity of facial muscles1SPG11 CL E G H80208602099Amyotrophic lateral sclerosis type 5602099C1865864OMIM1262511226610844
HP:0001257HP:0031866Clasp-knife sign1SPG11 CL E G H80208602099Amyotrophic lateral sclerosis type 5602099C1865864OMIM1262511226610844
HP:0001257HP:0002061Lower limb spasticity1SPG11 CL E G H80208602099Amyotrophic lateral sclerosis type 5602099C1865864OMIM1262511226610844
HP:0001257HP:0002179Opisthotonus1SPG11 CL E G H80208602099Amyotrophic lateral sclerosis type 5602099C1865864OMIM1262511226610844
HP:0001257HP:0002191Progressive spasticity1SPG11 CL E G H80208602099Amyotrophic lateral sclerosis type 5602099C1865864OMIM1262511226610844
HP:0001257HP:0001264Spastic diplegia1SPG11 CL E G H80208602099Amyotrophic lateral sclerosis type 5602099C1865864OMIM1262511226610844
HP:0001257HP:0002464Spastic dysarthria1SPG11 CL E G H80208602099Amyotrophic lateral sclerosis type 5602099C1865864OMIM1262511226610844
HP:0001257HP:0002064Spastic gait1SPG11 CL E G H80208602099Amyotrophic lateral sclerosis type 5602099C1865864OMIM1262511226610844
HP:0001257HP:0011099Spastic hemiparesis1SPG11 CL E G H80208602099Amyotrophic lateral sclerosis type 5602099C1865864OMIM1262511226610844
HP:0001257HP:0001285Spastic tetraparesis1SPG11 CL E G H80208602099Amyotrophic lateral sclerosis type 5602099C1865864OMIM1262511226610844
HP:0001257HP:0002510Spastic tetraplegia1SPG11 CL E G H80208602099Amyotrophic lateral sclerosis type 5602099C1865864OMIM1262511226610844
HP:0001257HP:0002501Spasticity of pharyngeal muscles1SPG11 CL E G H80208602099Amyotrophic lateral sclerosis type 5602099C1865864OMIM1262511226610844
HP:0001257HP:0006986Upper limb spasticity1SPG11 CL E G H80208602099Amyotrophic lateral sclerosis type 5602099C1865864OMIM1262511226610844
HP:0001257HP:0002491Spasticity of facial muscles1SPG11 CL E G H80208300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1262511226610844
HP:0001257HP:0031866Clasp-knife sign1SPG11 CL E G H80208300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1262511226610844
HP:0001257HP:0002061Lower limb spasticity1SPG11 CL E G H80208300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1262511226610844
HP:0001257HP:0002179Opisthotonus1SPG11 CL E G H80208300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1262511226610844
HP:0001257HP:0002191Progressive spasticity1SPG11 CL E G H80208300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1262511226610844
HP:0001257HP:0001264Spastic diplegia1SPG11 CL E G H80208300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1262511226610844
HP:0001257HP:0002464Spastic dysarthria1SPG11 CL E G H80208300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1262511226610844
HP:0001257HP:0002064Spastic gait1SPG11 CL E G H80208300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1262511226610844
HP:0001257HP:0011099Spastic hemiparesis1SPG11 CL E G H80208300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1262511226610844
HP:0001257HP:0001285Spastic tetraparesis1SPG11 CL E G H80208300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1262511226610844
HP:0001257HP:0002510Spastic tetraplegia1SPG11 CL E G H80208300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1262511226610844
HP:0001257HP:0002501Spasticity of pharyngeal muscles1SPG11 CL E G H80208300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1262511226610844
HP:0001257HP:0006986Upper limb spasticity1SPG11 CL E G H80208300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1262511226610844
HP:0001257HP:0002491Spasticity of facial muscles1SPG21 CL E G H51324101001ORPHA116220373608181
HP:0001257HP:0031866Clasp-knife sign1SPG21 CL E G H51324101001ORPHA116220373608181
HP:0001257HP:0002061Lower limb spasticity1SPG21 CL E G H51324101001ORPHA116220373608181
HP:0001257HP:0002179Opisthotonus1SPG21 CL E G H51324101001ORPHA116220373608181
HP:0001257HP:0002191Progressive spasticity1SPG21 CL E G H51324101001ORPHA116220373608181
HP:0001257HP:0001264Spastic diplegia1SPG21 CL E G H51324101001ORPHA116220373608181
HP:0001257HP:0002464Spastic dysarthria1SPG21 CL E G H51324101001ORPHA116220373608181
HP:0001257HP:0002064Spastic gait1SPG21 CL E G H51324101001ORPHA116220373608181
HP:0001257HP:0011099Spastic hemiparesis1SPG21 CL E G H51324101001ORPHA116220373608181
HP:0001257HP:0001285Spastic tetraparesis1SPG21 CL E G H51324101001ORPHA116220373608181
HP:0001257HP:0002510Spastic tetraplegia1SPG21 CL E G H51324101001ORPHA116220373608181
HP:0001257HP:0002501Spasticity of pharyngeal muscles1SPG21 CL E G H51324101001ORPHA116220373608181
HP:0001257HP:0006986Upper limb spasticity1SPG21 CL E G H51324101001ORPHA116220373608181
HP:0001257HP:0002491Spasticity of facial muscles1SPR CL E G H6697612716Sepiapterin reductase deficiency612716C0268468OMIM119811257182125
HP:0001257HP:0031866Clasp-knife sign1SPR CL E G H6697612716Sepiapterin reductase deficiency612716C0268468OMIM119811257182125
HP:0001257HP:0002061Lower limb spasticity1SPR CL E G H6697612716Sepiapterin reductase deficiency612716C0268468OMIM119811257182125
HP:0001257HP:0002179Opisthotonus1SPR CL E G H6697612716Sepiapterin reductase deficiency612716C0268468OMIM119811257182125
HP:0001257HP:0002191Progressive spasticity1SPR CL E G H6697612716Sepiapterin reductase deficiency612716C0268468OMIM119811257182125
HP:0001257HP:0001264Spastic diplegia1SPR CL E G H6697612716Sepiapterin reductase deficiency612716C0268468OMIM119811257182125
HP:0001257HP:0002464Spastic dysarthria1SPR CL E G H6697612716Sepiapterin reductase deficiency612716C0268468OMIM119811257182125
HP:0001257HP:0002064Spastic gait1SPR CL E G H6697612716Sepiapterin reductase deficiency612716C0268468OMIM119811257182125
HP:0001257HP:0011099Spastic hemiparesis1SPR CL E G H6697612716Sepiapterin reductase deficiency612716C0268468OMIM119811257182125
HP:0001257HP:0001285Spastic tetraparesis1SPR CL E G H6697612716Sepiapterin reductase deficiency612716C0268468OMIM119811257182125
HP:0001257HP:0002510Spastic tetraplegia1SPR CL E G H6697612716Sepiapterin reductase deficiency612716C0268468OMIM119811257182125
HP:0001257HP:0002501Spasticity of pharyngeal muscles1SPR CL E G H6697612716Sepiapterin reductase deficiency612716C0268468OMIM119811257182125
HP:0001257HP:0006986Upper limb spasticity1SPR CL E G H6697612716Sepiapterin reductase deficiency612716C0268468OMIM119811257182125
HP:0001257HP:0002491Spasticity of facial muscles1SQSTM1 CL E G H8878803ORPHA167711280601530
HP:0001257HP:0031866Clasp-knife sign1SQSTM1 CL E G H8878803ORPHA167711280601530
HP:0001257HP:0002061Lower limb spasticity1SQSTM1 CL E G H8878803ORPHA167711280601530
HP:0001257HP:0002179Opisthotonus1SQSTM1 CL E G H8878803ORPHA167711280601530
HP:0001257HP:0002191Progressive spasticity1SQSTM1 CL E G H8878803ORPHA167711280601530
HP:0001257HP:0001264Spastic diplegia1SQSTM1 CL E G H8878803ORPHA167711280601530
HP:0001257HP:0002464Spastic dysarthria1SQSTM1 CL E G H8878803ORPHA167711280601530
HP:0001257HP:0002064Spastic gait1SQSTM1 CL E G H8878803ORPHA167711280601530
HP:0001257HP:0011099Spastic hemiparesis1SQSTM1 CL E G H8878803ORPHA167711280601530
HP:0001257HP:0001285Spastic tetraparesis1SQSTM1 CL E G H8878803ORPHA167711280601530
HP:0001257HP:0002510Spastic tetraplegia1SQSTM1 CL E G H8878803ORPHA167711280601530
HP:0001257HP:0002501Spasticity of pharyngeal muscles1SQSTM1 CL E G H8878803ORPHA167711280601530
HP:0001257HP:0006986Upper limb spasticity1SQSTM1 CL E G H8878803ORPHA167711280601530
HP:0001257HP:0002491Spasticity of facial muscles1STN1 CL E G H79991617341Cerebroretinal microangiopathy with calcifications and cysts 2617341C4479220OMIM122526200613128
HP:0001257HP:0031866Clasp-knife sign1STN1 CL E G H79991617341Cerebroretinal microangiopathy with calcifications and cysts 2617341C4479220OMIM122526200613128
HP:0001257HP:0002061Lower limb spasticity1STN1 CL E G H79991617341Cerebroretinal microangiopathy with calcifications and cysts 2617341C4479220OMIM122526200613128
HP:0001257HP:0002179Opisthotonus1STN1 CL E G H79991617341Cerebroretinal microangiopathy with calcifications and cysts 2617341C4479220OMIM122526200613128
HP:0001257HP:0002191Progressive spasticity1STN1 CL E G H79991617341Cerebroretinal microangiopathy with calcifications and cysts 2617341C4479220OMIM122526200613128
HP:0001257HP:0001264Spastic diplegia1STN1 CL E G H79991617341Cerebroretinal microangiopathy with calcifications and cysts 2617341C4479220OMIM122526200613128
HP:0001257HP:0002464Spastic dysarthria1STN1 CL E G H79991617341Cerebroretinal microangiopathy with calcifications and cysts 2617341C4479220OMIM122526200613128
HP:0001257HP:0002064Spastic gait1STN1 CL E G H79991617341Cerebroretinal microangiopathy with calcifications and cysts 2617341C4479220OMIM122526200613128
HP:0001257HP:0011099Spastic hemiparesis1STN1 CL E G H79991617341Cerebroretinal microangiopathy with calcifications and cysts 2617341C4479220OMIM122526200613128
HP:0001257HP:0001285Spastic tetraparesis1STN1 CL E G H79991617341Cerebroretinal microangiopathy with calcifications and cysts 2617341C4479220OMIM122526200613128
HP:0001257HP:0002510Spastic tetraplegia1STN1 CL E G H79991617341Cerebroretinal microangiopathy with calcifications and cysts 2617341C4479220OMIM122526200613128
HP:0001257HP:0002501Spasticity of pharyngeal muscles1STN1 CL E G H79991617341Cerebroretinal microangiopathy with calcifications and cysts 2617341C4479220OMIM122526200613128
HP:0001257HP:0006986Upper limb spasticity1STN1 CL E G H79991617341Cerebroretinal microangiopathy with calcifications and cysts 2617341C4479220OMIM122526200613128
HP:0001257HP:0002491Spasticity of facial muscles1STXBP1 CL E G H68123095ORPHA1101711444602926
HP:0001257HP:0031866Clasp-knife sign1STXBP1 CL E G H68123095ORPHA1101711444602926
HP:0001257HP:0002061Lower limb spasticity1STXBP1 CL E G H68123095ORPHA1101711444602926
HP:0001257HP:0002179Opisthotonus1STXBP1 CL E G H68123095ORPHA1101711444602926
HP:0001257HP:0002191Progressive spasticity1STXBP1 CL E G H68123095ORPHA1101711444602926
HP:0001257HP:0001264Spastic diplegia1STXBP1 CL E G H68123095ORPHA1101711444602926
HP:0001257HP:0002464Spastic dysarthria1STXBP1 CL E G H68123095ORPHA1101711444602926
HP:0001257HP:0002064Spastic gait1STXBP1 CL E G H68123095ORPHA1101711444602926
HP:0001257HP:0011099Spastic hemiparesis1STXBP1 CL E G H68123095ORPHA1101711444602926
HP:0001257HP:0001285Spastic tetraparesis1STXBP1 CL E G H68123095ORPHA1101711444602926
HP:0001257HP:0002510Spastic tetraplegia1STXBP1 CL E G H68123095ORPHA1101711444602926
HP:0001257HP:0002501Spasticity of pharyngeal muscles1STXBP1 CL E G H68123095ORPHA1101711444602926
HP:0001257HP:0006986Upper limb spasticity1STXBP1 CL E G H68123095ORPHA1101711444602926
HP:0001257HP:0002491Spasticity of facial muscles1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0001257HP:0031866Clasp-knife sign1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0001257HP:0002061Lower limb spasticity1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0001257HP:0002179Opisthotonus1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0001257HP:0002191Progressive spasticity1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0001257HP:0001264Spastic diplegia1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0001257HP:0002464Spastic dysarthria1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0001257HP:0002064Spastic gait1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0001257HP:0011099Spastic hemiparesis1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0001257HP:0001285Spastic tetraparesis1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0001257HP:0002510Spastic tetraplegia1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0001257HP:0002501Spasticity of pharyngeal muscles1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0001257HP:0006986Upper limb spasticity1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0001257HP:0002491Spasticity of facial muscles1SUMF1 CL E G H285362272200Multiple sulfatase deficiency272200C0268263OMIM174620376607939
HP:0001257HP:0031866Clasp-knife sign1SUMF1 CL E G H285362272200Multiple sulfatase deficiency272200C0268263OMIM174620376607939
HP:0001257HP:0002061Lower limb spasticity1SUMF1 CL E G H285362272200Multiple sulfatase deficiency272200C0268263OMIM174620376607939
HP:0001257HP:0002179Opisthotonus1SUMF1 CL E G H285362272200Multiple sulfatase deficiency272200C0268263OMIM174620376607939
HP:0001257HP:0002191Progressive spasticity1SUMF1 CL E G H285362272200Multiple sulfatase deficiency272200C0268263OMIM174620376607939
HP:0001257HP:0001264Spastic diplegia1SUMF1 CL E G H285362272200Multiple sulfatase deficiency272200C0268263OMIM174620376607939
HP:0001257HP:0002464Spastic dysarthria1SUMF1 CL E G H285362272200Multiple sulfatase deficiency272200C0268263OMIM174620376607939
HP:0001257HP:0002064Spastic gait1SUMF1 CL E G H285362272200Multiple sulfatase deficiency272200C0268263OMIM174620376607939
HP:0001257HP:0011099Spastic hemiparesis1SUMF1 CL E G H285362272200Multiple sulfatase deficiency272200C0268263OMIM174620376607939
HP:0001257HP:0001285Spastic tetraparesis1SUMF1 CL E G H285362272200Multiple sulfatase deficiency272200C0268263OMIM174620376607939
HP:0001257HP:0002510Spastic tetraplegia1SUMF1 CL E G H285362272200Multiple sulfatase deficiency272200C0268263OMIM174620376607939
HP:0001257HP:0002501Spasticity of pharyngeal muscles1SUMF1 CL E G H285362272200Multiple sulfatase deficiency272200C0268263OMIM174620376607939
HP:0001257HP:0006986Upper limb spasticity1SUMF1 CL E G H285362272200Multiple sulfatase deficiency272200C0268263OMIM174620376607939
HP:0001257HP:0002491Spasticity of facial muscles1SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0001257HP:0031866Clasp-knife sign1SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0001257HP:0002061Lower limb spasticity1SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0001257HP:0002179Opisthotonus1SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0001257HP:0002191Progressive spasticity1SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0001257HP:0001264Spastic diplegia1SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0001257HP:0002464Spastic dysarthria1SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0001257HP:0002064Spastic gait1SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0001257HP:0011099Spastic hemiparesis1SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0001257HP:0001285Spastic tetraparesis1SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0001257HP:0002510Spastic tetraplegia1SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0001257HP:0002501Spasticity of pharyngeal muscles1SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0001257HP:0006986Upper limb spasticity1SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0001257HP:0002491Spasticity of facial muscles1SUZ12 CL E G H235123447ORPHA113917101606245
HP:0001257HP:0031866Clasp-knife sign1SUZ12 CL E G H235123447ORPHA113917101606245
HP:0001257HP:0002061Lower limb spasticity1SUZ12 CL E G H235123447ORPHA113917101606245
HP:0001257HP:0002179Opisthotonus1SUZ12 CL E G H235123447ORPHA113917101606245
HP:0001257HP:0002191Progressive spasticity1SUZ12 CL E G H235123447ORPHA113917101606245
HP:0001257HP:0001264Spastic diplegia1SUZ12 CL E G H235123447ORPHA113917101606245
HP:0001257HP:0002464Spastic dysarthria1SUZ12 CL E G H235123447ORPHA113917101606245
HP:0001257HP:0002064Spastic gait1SUZ12 CL E G H235123447ORPHA113917101606245
HP:0001257HP:0011099Spastic hemiparesis1SUZ12 CL E G H235123447ORPHA113917101606245
HP:0001257HP:0001285Spastic tetraparesis1SUZ12 CL E G H235123447ORPHA113917101606245
HP:0001257HP:0002510Spastic tetraplegia1SUZ12 CL E G H235123447ORPHA113917101606245
HP:0001257HP:0002501Spasticity of pharyngeal muscles1SUZ12 CL E G H235123447ORPHA113917101606245
HP:0001257HP:0006986Upper limb spasticity1SUZ12 CL E G H235123447ORPHA113917101606245
HP:0001257HP:0002491Spasticity of facial muscles1TAF15 CL E G H8148803ORPHA112511547601574
HP:0001257HP:0031866Clasp-knife sign1TAF15 CL E G H8148803ORPHA112511547601574
HP:0001257HP:0002061Lower limb spasticity1TAF15 CL E G H8148803ORPHA112511547601574
HP:0001257HP:0002179Opisthotonus1TAF15 CL E G H8148803ORPHA112511547601574
HP:0001257HP:0002191Progressive spasticity1TAF15 CL E G H8148803ORPHA112511547601574
HP:0001257HP:0001264Spastic diplegia1TAF15 CL E G H8148803ORPHA112511547601574
HP:0001257HP:0002464Spastic dysarthria1TAF15 CL E G H8148803ORPHA112511547601574
HP:0001257HP:0002064Spastic gait1TAF15 CL E G H8148803ORPHA112511547601574
HP:0001257HP:0011099Spastic hemiparesis1TAF15 CL E G H8148803ORPHA112511547601574
HP:0001257HP:0001285Spastic tetraparesis1TAF15 CL E G H8148803ORPHA112511547601574
HP:0001257HP:0002510Spastic tetraplegia1TAF15 CL E G H8148803ORPHA112511547601574
HP:0001257HP:0002501Spasticity of pharyngeal muscles1TAF15 CL E G H8148803ORPHA112511547601574
HP:0001257HP:0006986Upper limb spasticity1TAF15 CL E G H8148803ORPHA112511547601574
HP:0001257HP:0002491Spasticity of facial muscles1TAF2 CL E G H6873615599Mental retardation, autosomal recessive 40615599C3810080OMIM127111536604912
HP:0001257HP:0031866Clasp-knife sign1TAF2 CL E G H6873615599Mental retardation, autosomal recessive 40615599C3810080OMIM127111536604912
HP:0001257HP:0002061Lower limb spasticity1TAF2 CL E G H6873615599Mental retardation, autosomal recessive 40615599C3810080OMIM127111536604912
HP:0001257HP:0002179Opisthotonus1TAF2 CL E G H6873615599Mental retardation, autosomal recessive 40615599C3810080OMIM127111536604912
HP:0001257HP:0002191Progressive spasticity1TAF2 CL E G H6873615599Mental retardation, autosomal recessive 40615599C3810080OMIM127111536604912
HP:0001257HP:0001264Spastic diplegia1TAF2 CL E G H6873615599Mental retardation, autosomal recessive 40615599C3810080OMIM127111536604912
HP:0001257HP:0002464Spastic dysarthria1TAF2 CL E G H6873615599Mental retardation, autosomal recessive 40615599C3810080OMIM127111536604912
HP:0001257HP:0002064Spastic gait1TAF2 CL E G H6873615599Mental retardation, autosomal recessive 40615599C3810080OMIM127111536604912
HP:0001257HP:0011099Spastic hemiparesis1TAF2 CL E G H6873615599Mental retardation, autosomal recessive 40615599C3810080OMIM127111536604912
HP:0001257HP:0001285Spastic tetraparesis1TAF2 CL E G H6873615599Mental retardation, autosomal recessive 40615599C3810080OMIM127111536604912
HP:0001257HP:0002510Spastic tetraplegia1TAF2 CL E G H6873615599Mental retardation, autosomal recessive 40615599C3810080OMIM127111536604912
HP:0001257HP:0002501Spasticity of pharyngeal muscles1TAF2 CL E G H6873615599Mental retardation, autosomal recessive 40615599C3810080OMIM127111536604912
HP:0001257HP:0006986Upper limb spasticity1TAF2 CL E G H6873615599Mental retardation, autosomal recessive 40615599C3810080OMIM127111536604912
HP:0001257HP:0002491Spasticity of facial muscles1TARDBP CL E G H23435803ORPHA130911571605078
HP:0001257HP:0031866Clasp-knife sign1TARDBP CL E G H23435803ORPHA130911571605078
HP:0001257HP:0002061Lower limb spasticity1TARDBP CL E G H23435803ORPHA130911571605078
HP:0001257HP:0002179Opisthotonus1TARDBP CL E G H23435803ORPHA130911571605078
HP:0001257HP:0002191Progressive spasticity1TARDBP CL E G H23435803ORPHA130911571605078
HP:0001257HP:0001264Spastic diplegia1TARDBP CL E G H23435803ORPHA130911571605078
HP:0001257HP:0002464Spastic dysarthria1TARDBP CL E G H23435803ORPHA130911571605078
HP:0001257HP:0002064Spastic gait1TARDBP CL E G H23435803ORPHA130911571605078
HP:0001257HP:0011099Spastic hemiparesis1TARDBP CL E G H23435803ORPHA130911571605078
HP:0001257HP:0001285Spastic tetraparesis1TARDBP CL E G H23435803ORPHA130911571605078
HP:0001257HP:0002510Spastic tetraplegia1TARDBP CL E G H23435803ORPHA130911571605078
HP:0001257HP:0002501Spasticity of pharyngeal muscles1TARDBP CL E G H23435803ORPHA130911571605078
HP:0001257HP:0006986Upper limb spasticity1TARDBP CL E G H23435803ORPHA130911571605078
HP:0001257HP:0002491Spasticity of facial muscles1TARDBP CL E G H23435612069Amyotrophic lateral sclerosis type 10612069C2677565OMIM130911571605078
HP:0001257HP:0031866Clasp-knife sign1TARDBP CL E G H23435612069Amyotrophic lateral sclerosis type 10612069C2677565OMIM130911571605078
HP:0001257HP:0002061Lower limb spasticity1TARDBP CL E G H23435612069Amyotrophic lateral sclerosis type 10612069C2677565OMIM130911571605078
HP:0001257HP:0002179Opisthotonus1TARDBP CL E G H23435612069Amyotrophic lateral sclerosis type 10612069C2677565OMIM130911571605078
HP:0001257HP:0002191Progressive spasticity1TARDBP CL E G H23435612069Amyotrophic lateral sclerosis type 10612069C2677565OMIM130911571605078
HP:0001257HP:0001264Spastic diplegia1TARDBP CL E G H23435612069Amyotrophic lateral sclerosis type 10612069C2677565OMIM130911571605078
HP:0001257HP:0002464Spastic dysarthria1TARDBP CL E G H23435612069Amyotrophic lateral sclerosis type 10612069C2677565OMIM130911571605078
HP:0001257HP:0002064Spastic gait1TARDBP CL E G H23435612069Amyotrophic lateral sclerosis type 10612069C2677565OMIM130911571605078
HP:0001257HP:0011099Spastic hemiparesis1TARDBP CL E G H23435612069Amyotrophic lateral sclerosis type 10612069C2677565OMIM130911571605078
HP:0001257HP:0001285Spastic tetraparesis1TARDBP CL E G H23435612069Amyotrophic lateral sclerosis type 10612069C2677565OMIM130911571605078
HP:0001257HP:0002510Spastic tetraplegia1TARDBP CL E G H23435612069Amyotrophic lateral sclerosis type 10612069C2677565OMIM130911571605078
HP:0001257HP:0002501Spasticity of pharyngeal muscles1TARDBP CL E G H23435612069Amyotrophic lateral sclerosis type 10612069C2677565OMIM130911571605078
HP:0001257HP:0006986Upper limb spasticity1TARDBP CL E G H23435612069Amyotrophic lateral sclerosis type 10612069C2677565OMIM130911571605078
HP:0001257HP:0002491Spasticity of facial muscles1TBC1D20 CL E G H1286372510ORPHA119516133611663
HP:0001257HP:0031866Clasp-knife sign1TBC1D20 CL E G H1286372510ORPHA119516133611663
HP:0001257HP:0002061Lower limb spasticity1TBC1D20 CL E G H1286372510ORPHA119516133611663
HP:0001257HP:0002179Opisthotonus1TBC1D20 CL E G H1286372510ORPHA119516133611663
HP:0001257HP:0002191Progressive spasticity1TBC1D20 CL E G H1286372510ORPHA119516133611663
HP:0001257HP:0001264Spastic diplegia1TBC1D20 CL E G H1286372510ORPHA119516133611663
HP:0001257HP:0002464Spastic dysarthria1TBC1D20 CL E G H1286372510ORPHA119516133611663
HP:0001257HP:0002064Spastic gait1TBC1D20 CL E G H1286372510ORPHA119516133611663
HP:0001257HP:0011099Spastic hemiparesis1TBC1D20 CL E G H1286372510ORPHA119516133611663
HP:0001257HP:0001285Spastic tetraparesis1TBC1D20 CL E G H1286372510ORPHA119516133611663
HP:0001257HP:0002510Spastic tetraplegia1TBC1D20 CL E G H1286372510ORPHA119516133611663
HP:0001257HP:0002501Spasticity of pharyngeal muscles1TBC1D20 CL E G H1286372510ORPHA119516133611663
HP:0001257HP:0006986Upper limb spasticity1TBC1D20 CL E G H1286372510ORPHA119516133611663
HP:0001257HP:0002491Spasticity of facial muscles1TBK1 CL E G H29110803ORPHA138211584604834
HP:0001257HP:0031866Clasp-knife sign1TBK1 CL E G H29110803ORPHA138211584604834
HP:0001257HP:0002061Lower limb spasticity1TBK1 CL E G H29110803ORPHA138211584604834
HP:0001257HP:0002179Opisthotonus1TBK1 CL E G H29110803ORPHA138211584604834
HP:0001257HP:0002191Progressive spasticity1TBK1 CL E G H29110803ORPHA138211584604834
HP:0001257HP:0001264Spastic diplegia1TBK1 CL E G H29110803ORPHA138211584604834
HP:0001257HP:0002464Spastic dysarthria1TBK1 CL E G H29110803ORPHA138211584604834
HP:0001257HP:0002064Spastic gait1TBK1 CL E G H29110803ORPHA138211584604834
HP:0001257HP:0011099Spastic hemiparesis1TBK1 CL E G H29110803ORPHA138211584604834
HP:0001257HP:0001285Spastic tetraparesis1TBK1 CL E G H29110803ORPHA138211584604834
HP:0001257HP:0002510Spastic tetraplegia1TBK1 CL E G H29110803ORPHA138211584604834
HP:0001257HP:0002501Spasticity of pharyngeal muscles1TBK1 CL E G H29110803ORPHA138211584604834
HP:0001257HP:0006986Upper limb spasticity1TBK1 CL E G H29110803ORPHA138211584604834
HP:0001257HP:0002491Spasticity of facial muscles1TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0001257HP:0031866Clasp-knife sign1TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0001257HP:0002061Lower limb spasticity1TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0001257HP:0002179Opisthotonus1TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0001257HP:0002191Progressive spasticity1TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0001257HP:0001264Spastic diplegia1TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0001257HP:0002464Spastic dysarthria1TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0001257HP:0002064Spastic gait1TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0001257HP:0011099Spastic hemiparesis1TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0001257HP:0001285Spastic tetraparesis1TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0001257HP:0002510Spastic tetraplegia1TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0001257HP:0002501Spasticity of pharyngeal muscles1TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0001257HP:0006986Upper limb spasticity1TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0001257HP:0002491Spasticity of facial muscles1TBP CL E G H690898759ORPHA113111588600075
HP:0001257HP:0031866Clasp-knife sign1TBP CL E G H690898759ORPHA113111588600075
HP:0001257HP:0002061Lower limb spasticity1TBP CL E G H690898759ORPHA113111588600075
HP:0001257HP:0002179Opisthotonus1TBP CL E G H690898759ORPHA113111588600075
HP:0001257HP:0002191Progressive spasticity1TBP CL E G H690898759ORPHA113111588600075
HP:0001257HP:0001264Spastic diplegia1TBP CL E G H690898759ORPHA113111588600075
HP:0001257HP:0002464Spastic dysarthria1TBP CL E G H690898759ORPHA113111588600075
HP:0001257HP:0002064Spastic gait1TBP CL E G H690898759ORPHA113111588600075
HP:0001257HP:0011099Spastic hemiparesis1TBP CL E G H690898759ORPHA113111588600075
HP:0001257HP:0001285Spastic tetraparesis1TBP CL E G H690898759ORPHA113111588600075
HP:0001257HP:0002510Spastic tetraplegia1TBP CL E G H690898759ORPHA113111588600075
HP:0001257HP:0002501Spasticity of pharyngeal muscles1TBP CL E G H690898759ORPHA113111588600075
HP:0001257HP:0006986Upper limb spasticity1TBP CL E G H690898759ORPHA113111588600075
HP:0001257HP:0002491Spasticity of facial muscles1TCTN2 CL E G H79867616654Joubert syndrome 24616654C4084841OMIM162225774613846
HP:0001257HP:0031866Clasp-knife sign1TCTN2 CL E G H79867616654Joubert syndrome 24616654C4084841OMIM162225774613846
HP:0001257HP:0002061Lower limb spasticity1TCTN2 CL E G H79867616654Joubert syndrome 24616654C4084841OMIM162225774613846
HP:0001257HP:0002179Opisthotonus1TCTN2 CL E G H79867616654Joubert syndrome 24616654C4084841OMIM162225774613846
HP:0001257HP:0002191Progressive spasticity1TCTN2 CL E G H79867616654Joubert syndrome 24616654C4084841OMIM162225774613846
HP:0001257HP:0001264Spastic diplegia1TCTN2 CL E G H79867616654Joubert syndrome 24616654C4084841OMIM162225774613846
HP:0001257HP:0002464Spastic dysarthria1TCTN2 CL E G H79867616654Joubert syndrome 24616654C4084841OMIM162225774613846
HP:0001257HP:0002064Spastic gait1TCTN2 CL E G H79867616654Joubert syndrome 24616654C4084841OMIM162225774613846
HP:0001257HP:0011099Spastic hemiparesis1TCTN2 CL E G H79867616654Joubert syndrome 24616654C4084841OMIM162225774613846
HP:0001257HP:0001285Spastic tetraparesis1TCTN2 CL E G H79867616654Joubert syndrome 24616654C4084841OMIM162225774613846
HP:0001257HP:0002510Spastic tetraplegia1TCTN2 CL E G H79867616654Joubert syndrome 24616654C4084841OMIM162225774613846
HP:0001257HP:0002501Spasticity of pharyngeal muscles1TCTN2 CL E G H79867616654Joubert syndrome 24616654C4084841OMIM162225774613846
HP:0001257HP:0006986Upper limb spasticity1TCTN2 CL E G H79867616654Joubert syndrome 24616654C4084841OMIM162225774613846
HP:0001257HP:0002491Spasticity of facial muscles1TELO2 CL E G H9894616954You-Hoover-Fong syndrome616954C4310778OMIM140529099611140
HP:0001257HP:0031866Clasp-knife sign1TELO2 CL E G H9894616954You-Hoover-Fong syndrome616954C4310778OMIM140529099611140
HP:0001257HP:0002061Lower limb spasticity1TELO2 CL E G H9894616954You-Hoover-Fong syndrome616954C4310778OMIM140529099611140
HP:0001257HP:0002179Opisthotonus1TELO2 CL E G H9894616954You-Hoover-Fong syndrome616954C4310778OMIM140529099611140
HP:0001257HP:0002191Progressive spasticity1TELO2 CL E G H9894616954You-Hoover-Fong syndrome616954C4310778OMIM140529099611140
HP:0001257HP:0001264Spastic diplegia1TELO2 CL E G H9894616954You-Hoover-Fong syndrome616954C4310778OMIM140529099611140
HP:0001257HP:0002464Spastic dysarthria1TELO2 CL E G H9894616954You-Hoover-Fong syndrome616954C4310778OMIM140529099611140
HP:0001257HP:0002064Spastic gait1TELO2 CL E G H9894616954You-Hoover-Fong syndrome616954C4310778OMIM140529099611140
HP:0001257HP:0011099Spastic hemiparesis1TELO2 CL E G H9894616954You-Hoover-Fong syndrome616954C4310778OMIM140529099611140
HP:0001257HP:0001285Spastic tetraparesis1TELO2 CL E G H9894616954You-Hoover-Fong syndrome616954C4310778OMIM140529099611140
HP:0001257HP:0002510Spastic tetraplegia1TELO2 CL E G H9894616954You-Hoover-Fong syndrome616954C4310778OMIM140529099611140
HP:0001257HP:0002501Spasticity of pharyngeal muscles1TELO2 CL E G H9894616954You-Hoover-Fong syndrome616954C4310778OMIM140529099611140
HP:0001257HP:0006986Upper limb spasticity1TELO2 CL E G H9894616954You-Hoover-Fong syndrome616954C4310778OMIM140529099611140
HP:0001257HP:0002491Spasticity of facial muscles1TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0001257HP:0031866Clasp-knife sign1TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0001257HP:0002061Lower limb spasticity1TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0001257HP:0002179Opisthotonus1TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0001257HP:0002191Progressive spasticity1TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0001257HP:0001264Spastic diplegia1TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0001257HP:0002464Spastic dysarthria1TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0001257HP:0002064Spastic gait1TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0001257HP:0011099Spastic hemiparesis1TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0001257HP:0001285Spastic tetraparesis1TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0001257HP:0002510Spastic tetraplegia1TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0001257HP:0002501Spasticity of pharyngeal muscles1TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0001257HP:0006986Upper limb spasticity1TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0001257HP:0002491Spasticity of facial muscles1TMEM231 CL E G H795832752ORPHA146337234614949
HP:0001257HP:0031866Clasp-knife sign1TMEM231 CL E G H795832752ORPHA146337234614949
HP:0001257HP:0002061Lower limb spasticity1TMEM231 CL E G H795832752ORPHA146337234614949
HP:0001257HP:0002179Opisthotonus1TMEM231 CL E G H795832752ORPHA146337234614949
HP:0001257HP:0002191Progressive spasticity1TMEM231 CL E G H795832752ORPHA146337234614949
HP:0001257HP:0001264Spastic diplegia1TMEM231 CL E G H795832752ORPHA146337234614949
HP:0001257HP:0002464Spastic dysarthria1TMEM231 CL E G H795832752ORPHA146337234614949
HP:0001257HP:0002064Spastic gait1TMEM231 CL E G H795832752ORPHA146337234614949
HP:0001257HP:0011099Spastic hemiparesis1TMEM231 CL E G H795832752ORPHA146337234614949
HP:0001257HP:0001285Spastic tetraparesis1TMEM231 CL E G H795832752ORPHA146337234614949
HP:0001257HP:0002510Spastic tetraplegia1TMEM231 CL E G H795832752ORPHA146337234614949
HP:0001257HP:0002501Spasticity of pharyngeal muscles1TMEM231 CL E G H795832752ORPHA146337234614949
HP:0001257HP:0006986Upper limb spasticity1TMEM231 CL E G H795832752ORPHA146337234614949
HP:0001257HP:0002491Spasticity of facial muscles1TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM192828396609884
HP:0001257HP:0031866Clasp-knife sign1TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM192828396609884
HP:0001257HP:0002061Lower limb spasticity1TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM192828396609884
HP:0001257HP:0002179Opisthotonus1TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM192828396609884
HP:0001257HP:0002191Progressive spasticity1TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM192828396609884
HP:0001257HP:0001264Spastic diplegia1TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM192828396609884
HP:0001257HP:0002464Spastic dysarthria1TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM192828396609884
HP:0001257HP:0002064Spastic gait1TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM192828396609884
HP:0001257HP:0011099Spastic hemiparesis1TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM192828396609884
HP:0001257HP:0001285Spastic tetraparesis1TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM192828396609884
HP:0001257HP:0002510Spastic tetraplegia1TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM192828396609884
HP:0001257HP:0002501Spasticity of pharyngeal muscles1TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM192828396609884
HP:0001257HP:0006986Upper limb spasticity1TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM192828396609884
HP:0001257HP:0002491Spasticity of facial muscles1TMTC3 CL E G H160418617255Lissencephaly 8617255C4310646OMIM119226899617218
HP:0001257HP:0031866Clasp-knife sign1TMTC3 CL E G H160418617255Lissencephaly 8617255C4310646OMIM119226899617218
HP:0001257HP:0002061Lower limb spasticity1TMTC3 CL E G H160418617255Lissencephaly 8617255C4310646OMIM119226899617218
HP:0001257HP:0002179Opisthotonus1TMTC3 CL E G H160418617255Lissencephaly 8617255C4310646OMIM119226899617218
HP:0001257HP:0002191Progressive spasticity1TMTC3 CL E G H160418617255Lissencephaly 8617255C4310646OMIM119226899617218
HP:0001257HP:0001264Spastic diplegia1TMTC3 CL E G H160418617255Lissencephaly 8617255C4310646OMIM119226899617218
HP:0001257HP:0002464Spastic dysarthria1TMTC3 CL E G H160418617255Lissencephaly 8617255C4310646OMIM119226899617218
HP:0001257HP:0002064Spastic gait1TMTC3 CL E G H160418617255Lissencephaly 8617255C4310646OMIM119226899617218
HP:0001257HP:0011099Spastic hemiparesis1TMTC3 CL E G H160418617255Lissencephaly 8617255C4310646OMIM119226899617218
HP:0001257HP:0001285Spastic tetraparesis1TMTC3 CL E G H160418617255Lissencephaly 8617255C4310646OMIM119226899617218
HP:0001257HP:0002510Spastic tetraplegia1TMTC3 CL E G H160418617255Lissencephaly 8617255C4310646OMIM119226899617218
HP:0001257HP:0002501Spasticity of pharyngeal muscles1TMTC3 CL E G H160418617255Lissencephaly 8617255C4310646OMIM119226899617218
HP:0001257HP:0006986Upper limb spasticity1TMTC3 CL E G H160418617255Lissencephaly 8617255C4310646OMIM119226899617218
HP:0001257HP:0002491Spasticity of facial muscles1TP53RK CL E G H112858617730GALLOWAY-MOWAT SYNDROME 4617730C4540270OMIM17016197608679
HP:0001257HP:0031866Clasp-knife sign1TP53RK CL E G H112858617730GALLOWAY-MOWAT SYNDROME 4617730C4540270OMIM17016197608679
HP:0001257HP:0002061Lower limb spasticity1TP53RK CL E G H112858617730GALLOWAY-MOWAT SYNDROME 4617730C4540270OMIM17016197608679
HP:0001257HP:0002179Opisthotonus1TP53RK CL E G H112858617730GALLOWAY-MOWAT SYNDROME 4617730C4540270OMIM17016197608679
HP:0001257HP:0002191Progressive spasticity1TP53RK CL E G H112858617730GALLOWAY-MOWAT SYNDROME 4617730C4540270OMIM17016197608679
HP:0001257HP:0001264Spastic diplegia1TP53RK CL E G H112858617730GALLOWAY-MOWAT SYNDROME 4617730C4540270OMIM17016197608679
HP:0001257HP:0002464Spastic dysarthria1TP53RK CL E G H112858617730GALLOWAY-MOWAT SYNDROME 4617730C4540270OMIM17016197608679
HP:0001257HP:0002064Spastic gait1TP53RK CL E G H112858617730GALLOWAY-MOWAT SYNDROME 4617730C4540270OMIM17016197608679
HP:0001257HP:0011099Spastic hemiparesis1TP53RK CL E G H112858617730GALLOWAY-MOWAT SYNDROME 4617730C4540270OMIM17016197608679
HP:0001257HP:0001285Spastic tetraparesis1TP53RK CL E G H112858617730GALLOWAY-MOWAT SYNDROME 4617730C4540270OMIM17016197608679
HP:0001257HP:0002510Spastic tetraplegia1TP53RK CL E G H112858617730GALLOWAY-MOWAT SYNDROME 4617730C4540270OMIM17016197608679
HP:0001257HP:0002501Spasticity of pharyngeal muscles1TP53RK CL E G H112858617730GALLOWAY-MOWAT SYNDROME 4617730C4540270OMIM17016197608679
HP:0001257HP:0006986Upper limb spasticity1TP53RK CL E G H112858617730GALLOWAY-MOWAT SYNDROME 4617730C4540270OMIM17016197608679
HP:0001257HP:0002491Spasticity of facial muscles1TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM118112009190450
HP:0001257HP:0031866Clasp-knife sign1TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM118112009190450
HP:0001257HP:0002061Lower limb spasticity1TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM118112009190450
HP:0001257HP:0002179Opisthotonus1TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM118112009190450
HP:0001257HP:0002191Progressive spasticity1TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM118112009190450
HP:0001257HP:0001264Spastic diplegia1TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM118112009190450
HP:0001257HP:0002464Spastic dysarthria1TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM118112009190450
HP:0001257HP:0002064Spastic gait1TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM118112009190450
HP:0001257HP:0011099Spastic hemiparesis1TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM118112009190450
HP:0001257HP:0001285Spastic tetraparesis1TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM118112009190450
HP:0001257HP:0002510Spastic tetraplegia1TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM118112009190450
HP:0001257HP:0002501Spasticity of pharyngeal muscles1TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM118112009190450
HP:0001257HP:0006986Upper limb spasticity1TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM118112009190450
HP:0001257HP:0002491Spasticity of facial muscles1TPK1 CL E G H27010614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)614458C3280866OMIM131817358606370
HP:0001257HP:0031866Clasp-knife sign1TPK1 CL E G H27010614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)614458C3280866OMIM131817358606370
HP:0001257HP:0002061Lower limb spasticity1TPK1 CL E G H27010614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)614458C3280866OMIM131817358606370
HP:0001257HP:0002179Opisthotonus1TPK1 CL E G H27010614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)614458C3280866OMIM131817358606370
HP:0001257HP:0002191Progressive spasticity1TPK1 CL E G H27010614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)614458C3280866OMIM131817358606370
HP:0001257HP:0001264Spastic diplegia1TPK1 CL E G H27010614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)614458C3280866OMIM131817358606370
HP:0001257HP:0002464Spastic dysarthria1TPK1 CL E G H27010614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)614458C3280866OMIM131817358606370
HP:0001257HP:0002064Spastic gait1TPK1 CL E G H27010614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)614458C3280866OMIM131817358606370
HP:0001257HP:0011099Spastic hemiparesis1TPK1 CL E G H27010614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)614458C3280866OMIM131817358606370
HP:0001257HP:0001285Spastic tetraparesis1TPK1 CL E G H27010614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)614458C3280866OMIM131817358606370
HP:0001257HP:0002510Spastic tetraplegia1TPK1 CL E G H27010614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)614458C3280866OMIM131817358606370
HP:0001257HP:0002501Spasticity of pharyngeal muscles1TPK1 CL E G H27010614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)614458C3280866OMIM131817358606370
HP:0001257HP:0006986Upper limb spasticity1TPK1 CL E G H27010614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)614458C3280866OMIM131817358606370
HP:0001257HP:0002491Spasticity of facial muscles1TPRKB CL E G H51002617731GALLOWAY-MOWAT SYNDROME 5617731C4540274OMIM14624259608680
HP:0001257HP:0031866Clasp-knife sign1TPRKB CL E G H51002617731GALLOWAY-MOWAT SYNDROME 5617731C4540274OMIM14624259608680
HP:0001257HP:0002061Lower limb spasticity1TPRKB CL E G H51002617731GALLOWAY-MOWAT SYNDROME 5617731C4540274OMIM14624259608680
HP:0001257HP:0002179Opisthotonus1TPRKB CL E G H51002617731GALLOWAY-MOWAT SYNDROME 5617731C4540274OMIM14624259608680
HP:0001257HP:0002191Progressive spasticity1TPRKB CL E G H51002617731GALLOWAY-MOWAT SYNDROME 5617731C4540274OMIM14624259608680
HP:0001257HP:0001264Spastic diplegia1TPRKB CL E G H51002617731GALLOWAY-MOWAT SYNDROME 5617731C4540274OMIM14624259608680
HP:0001257HP:0002464Spastic dysarthria1TPRKB CL E G H51002617731GALLOWAY-MOWAT SYNDROME 5617731C4540274OMIM14624259608680
HP:0001257HP:0002064Spastic gait1TPRKB CL E G H51002617731GALLOWAY-MOWAT SYNDROME 5617731C4540274OMIM14624259608680
HP:0001257HP:0011099Spastic hemiparesis1TPRKB CL E G H51002617731GALLOWAY-MOWAT SYNDROME 5617731C4540274OMIM14624259608680
HP:0001257HP:0001285Spastic tetraparesis1TPRKB CL E G H51002617731GALLOWAY-MOWAT SYNDROME 5617731C4540274OMIM14624259608680
HP:0001257HP:0002510Spastic tetraplegia1TPRKB CL E G H51002617731GALLOWAY-MOWAT SYNDROME 5617731C4540274OMIM14624259608680
HP:0001257HP:0002501Spasticity of pharyngeal muscles1TPRKB CL E G H51002617731GALLOWAY-MOWAT SYNDROME 5617731C4540274OMIM14624259608680
HP:0001257HP:0006986Upper limb spasticity1TPRKB CL E G H51002617731GALLOWAY-MOWAT SYNDROME 5617731C4540274OMIM14624259608680
HP:0001257HP:0002491Spasticity of facial muscles1TRAK1 CL E G H22906618201EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68618201OMIM120829947608112
HP:0001257HP:0031866Clasp-knife sign1TRAK1 CL E G H22906618201EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68618201OMIM120829947608112
HP:0001257HP:0002061Lower limb spasticity1TRAK1 CL E G H22906618201EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68618201OMIM120829947608112
HP:0001257HP:0002179Opisthotonus1TRAK1 CL E G H22906618201EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68618201OMIM120829947608112
HP:0001257HP:0002191Progressive spasticity1TRAK1 CL E G H22906618201EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68618201OMIM120829947608112
HP:0001257HP:0001264Spastic diplegia1TRAK1 CL E G H22906618201EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68618201OMIM120829947608112
HP:0001257HP:0002464Spastic dysarthria1TRAK1 CL E G H22906618201EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68618201OMIM120829947608112
HP:0001257HP:0002064Spastic gait1TRAK1 CL E G H22906618201EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68618201OMIM120829947608112
HP:0001257HP:0011099Spastic hemiparesis1TRAK1 CL E G H22906618201EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68618201OMIM120829947608112
HP:0001257HP:0001285Spastic tetraparesis1TRAK1 CL E G H22906618201EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68618201OMIM120829947608112
HP:0001257HP:0002510Spastic tetraplegia1TRAK1 CL E G H22906618201EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68618201OMIM120829947608112
HP:0001257HP:0002501Spasticity of pharyngeal muscles1TRAK1 CL E G H22906618201EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68618201OMIM120829947608112
HP:0001257HP:0006986Upper limb spasticity1TRAK1 CL E G H22906618201EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68618201OMIM120829947608112
HP:0001257HP:0002491Spasticity of facial muscles1TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM120224284614139
HP:0001257HP:0031866Clasp-knife sign1TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM120224284614139
HP:0001257HP:0002061Lower limb spasticity1TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM120224284614139
HP:0001257HP:0002179Opisthotonus1TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM120224284614139
HP:0001257HP:0002191Progressive spasticity1TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM120224284614139
HP:0001257HP:0001264Spastic diplegia1TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM120224284614139
HP:0001257HP:0002464Spastic dysarthria1TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM120224284614139
HP:0001257HP:0002064Spastic gait1TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM120224284614139
HP:0001257HP:0011099Spastic hemiparesis1TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM120224284614139
HP:0001257HP:0001285Spastic tetraparesis1TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM120224284614139
HP:0001257HP:0002510Spastic tetraplegia1TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM120224284614139
HP:0001257HP:0002501Spasticity of pharyngeal muscles1TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM120224284614139
HP:0001257HP:0006986Upper limb spasticity1TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM120224284614139
HP:0001257HP:0002491Spasticity of facial muscles1TREM2 CL E G H54209803ORPHA115417761605086
HP:0001257HP:0031866Clasp-knife sign1TREM2 CL E G H54209803ORPHA115417761605086
HP:0001257HP:0002061Lower limb spasticity1TREM2 CL E G H54209803ORPHA115417761605086
HP:0001257HP:0002179Opisthotonus1TREM2 CL E G H54209803ORPHA115417761605086
HP:0001257HP:0002191Progressive spasticity1TREM2 CL E G H54209803ORPHA115417761605086
HP:0001257HP:0001264Spastic diplegia1TREM2 CL E G H54209803ORPHA115417761605086
HP:0001257HP:0002464Spastic dysarthria1TREM2 CL E G H54209803ORPHA115417761605086
HP:0001257HP:0002064Spastic gait1TREM2 CL E G H54209803ORPHA115417761605086
HP:0001257HP:0011099Spastic hemiparesis1TREM2 CL E G H54209803ORPHA115417761605086
HP:0001257HP:0001285Spastic tetraparesis1TREM2 CL E G H54209803ORPHA115417761605086
HP:0001257HP:0002510Spastic tetraplegia1TREM2 CL E G H54209803ORPHA115417761605086
HP:0001257HP:0002501Spasticity of pharyngeal muscles1TREM2 CL E G H54209803ORPHA115417761605086
HP:0001257HP:0006986Upper limb spasticity1TREM2 CL E G H54209803ORPHA115417761605086
HP:0001257HP:0002491Spasticity of facial muscles1TREM2 CL E G H542092770ORPHA115417761605086
HP:0001257HP:0031866Clasp-knife sign1TREM2 CL E G H542092770ORPHA115417761605086
HP:0001257HP:0002061Lower limb spasticity1TREM2 CL E G H542092770ORPHA115417761605086
HP:0001257HP:0002179Opisthotonus1TREM2 CL E G H542092770ORPHA115417761605086
HP:0001257HP:0002191Progressive spasticity1TREM2 CL E G H542092770ORPHA115417761605086
HP:0001257HP:0001264Spastic diplegia1TREM2 CL E G H542092770ORPHA115417761605086
HP:0001257HP:0002464Spastic dysarthria1TREM2 CL E G H542092770ORPHA115417761605086
HP:0001257HP:0002064Spastic gait1TREM2 CL E G H542092770ORPHA115417761605086
HP:0001257HP:0011099Spastic hemiparesis1TREM2 CL E G H542092770ORPHA115417761605086
HP:0001257HP:0001285Spastic tetraparesis1TREM2 CL E G H542092770ORPHA115417761605086
HP:0001257HP:0002510Spastic tetraplegia1TREM2 CL E G H542092770ORPHA115417761605086
HP:0001257HP:0002501Spasticity of pharyngeal muscles1TREM2 CL E G H542092770ORPHA115417761605086
HP:0001257HP:0006986Upper limb spasticity1TREM2 CL E G H542092770ORPHA115417761605086
HP:0001257HP:0002491Spasticity of facial muscles1TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM141812269606609
HP:0001257HP:0031866Clasp-knife sign1TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM141812269606609
HP:0001257HP:0002061Lower limb spasticity1TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM141812269606609
HP:0001257HP:0002179Opisthotonus1TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM141812269606609
HP:0001257HP:0002191Progressive spasticity1TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM141812269606609
HP:0001257HP:0001264Spastic diplegia1TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM141812269606609
HP:0001257HP:0002464Spastic dysarthria1TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM141812269606609
HP:0001257HP:0002064Spastic gait1TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM141812269606609
HP:0001257HP:0011099Spastic hemiparesis1TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM141812269606609
HP:0001257HP:0001285Spastic tetraparesis1TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM141812269606609
HP:0001257HP:0002510Spastic tetraplegia1TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM141812269606609
HP:0001257HP:0002501Spasticity of pharyngeal muscles1TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM141812269606609
HP:0001257HP:0006986Upper limb spasticity1TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM141812269606609
HP:0001257HP:0002491Spasticity of facial muscles1TRIT1 CL E G H54802617873COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35617873CN807948OMIM111320286617840
HP:0001257HP:0031866Clasp-knife sign1TRIT1 CL E G H54802617873COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35617873CN807948OMIM111320286617840
HP:0001257HP:0002061Lower limb spasticity1TRIT1 CL E G H54802617873COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35617873CN807948OMIM111320286617840
HP:0001257HP:0002179Opisthotonus1TRIT1 CL E G H54802617873COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35617873CN807948OMIM111320286617840
HP:0001257HP:0002191Progressive spasticity1TRIT1 CL E G H54802617873COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35617873CN807948OMIM111320286617840
HP:0001257HP:0001264Spastic diplegia1TRIT1 CL E G H54802617873COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35617873CN807948OMIM111320286617840
HP:0001257HP:0002464Spastic dysarthria1TRIT1 CL E G H54802617873COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35617873CN807948OMIM111320286617840
HP:0001257HP:0002064Spastic gait1TRIT1 CL E G H54802617873COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35617873CN807948OMIM111320286617840
HP:0001257HP:0011099Spastic hemiparesis1TRIT1 CL E G H54802617873COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35617873CN807948OMIM111320286617840
HP:0001257HP:0001285Spastic tetraparesis1TRIT1 CL E G H54802617873COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35617873CN807948OMIM111320286617840
HP:0001257HP:0002510Spastic tetraplegia1TRIT1 CL E G H54802617873COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35617873CN807948OMIM111320286617840
HP:0001257HP:0002501Spasticity of pharyngeal muscles1TRIT1 CL E G H54802617873COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35617873CN807948OMIM111320286617840
HP:0001257HP:0006986Upper limb spasticity1TRIT1 CL E G H54802617873COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35617873CN807948OMIM111320286617840
HP:0001257HP:0002491Spasticity of facial muscles1TRMT5 CL E G H57570616539Combined oxidative phosphorylation deficiency 26616539C4225290OMIM122023141611023
HP:0001257HP:0031866Clasp-knife sign1TRMT5 CL E G H57570616539Combined oxidative phosphorylation deficiency 26616539C4225290OMIM122023141611023
HP:0001257HP:0002061Lower limb spasticity1TRMT5 CL E G H57570616539Combined oxidative phosphorylation deficiency 26616539C4225290OMIM122023141611023
HP:0001257HP:0002179Opisthotonus1TRMT5 CL E G H57570616539Combined oxidative phosphorylation deficiency 26616539C4225290OMIM122023141611023
HP:0001257HP:0002191Progressive spasticity1TRMT5 CL E G H57570616539Combined oxidative phosphorylation deficiency 26616539C4225290OMIM122023141611023
HP:0001257HP:0001264Spastic diplegia1TRMT5 CL E G H57570616539Combined oxidative phosphorylation deficiency 26616539C4225290OMIM122023141611023
HP:0001257HP:0002464Spastic dysarthria1TRMT5 CL E G H57570616539Combined oxidative phosphorylation deficiency 26616539C4225290OMIM122023141611023
HP:0001257HP:0002064Spastic gait1TRMT5 CL E G H57570616539Combined oxidative phosphorylation deficiency 26616539C4225290OMIM122023141611023
HP:0001257HP:0011099Spastic hemiparesis1TRMT5 CL E G H57570616539Combined oxidative phosphorylation deficiency 26616539C4225290OMIM122023141611023
HP:0001257HP:0001285Spastic tetraparesis1TRMT5 CL E G H57570616539Combined oxidative phosphorylation deficiency 26616539C4225290OMIM122023141611023
HP:0001257HP:0002510Spastic tetraplegia1TRMT5 CL E G H57570616539Combined oxidative phosphorylation deficiency 26616539C4225290OMIM122023141611023
HP:0001257HP:0002501Spasticity of pharyngeal muscles1TRMT5 CL E G H57570616539Combined oxidative phosphorylation deficiency 26616539C4225290OMIM122023141611023
HP:0001257HP:0006986Upper limb spasticity1TRMT5 CL E G H57570616539Combined oxidative phosphorylation deficiency 26616539C4225290OMIM122023141611023
HP:0001257HP:0002491Spasticity of facial muscles1TSEN54 CL E G H283989225753Pontocerebellar hypoplasia type 4225753C1856974OMIM141427561608755
HP:0001257HP:0031866Clasp-knife sign1TSEN54 CL E G H283989225753Pontocerebellar hypoplasia type 4225753C1856974OMIM141427561608755
HP:0001257HP:0002061Lower limb spasticity1TSEN54 CL E G H283989225753Pontocerebellar hypoplasia type 4225753C1856974OMIM141427561608755
HP:0001257HP:0002179Opisthotonus1TSEN54 CL E G H283989225753Pontocerebellar hypoplasia type 4225753C1856974OMIM141427561608755
HP:0001257HP:0002191Progressive spasticity1TSEN54 CL E G H283989225753Pontocerebellar hypoplasia type 4225753C1856974OMIM141427561608755
HP:0001257HP:0001264Spastic diplegia1TSEN54 CL E G H283989225753Pontocerebellar hypoplasia type 4225753C1856974OMIM141427561608755
HP:0001257HP:0002464Spastic dysarthria1TSEN54 CL E G H283989225753Pontocerebellar hypoplasia type 4225753C1856974OMIM141427561608755
HP:0001257HP:0002064Spastic gait1TSEN54 CL E G H283989225753Pontocerebellar hypoplasia type 4225753C1856974OMIM141427561608755
HP:0001257HP:0011099Spastic hemiparesis1TSEN54 CL E G H283989225753Pontocerebellar hypoplasia type 4225753C1856974OMIM141427561608755
HP:0001257HP:0001285Spastic tetraparesis1TSEN54 CL E G H283989225753Pontocerebellar hypoplasia type 4225753C1856974OMIM141427561608755
HP:0001257HP:0002510Spastic tetraplegia1TSEN54 CL E G H283989225753Pontocerebellar hypoplasia type 4225753C1856974OMIM141427561608755
HP:0001257HP:0002501Spasticity of pharyngeal muscles1TSEN54 CL E G H283989225753Pontocerebellar hypoplasia type 4225753C1856974OMIM141427561608755
HP:0001257HP:0006986Upper limb spasticity1TSEN54 CL E G H283989225753Pontocerebellar hypoplasia type 4225753C1856974OMIM141427561608755
HP:0001257HP:0002491Spasticity of facial muscles1TTR CL E G H7276105210Amyloidogenic transthyretin amyloidosis105210C2751492OMIM137712405176300
HP:0001257HP:0031866Clasp-knife sign1TTR CL E G H7276105210Amyloidogenic transthyretin amyloidosis105210C2751492OMIM137712405176300
HP:0001257HP:0002061Lower limb spasticity1TTR CL E G H7276105210Amyloidogenic transthyretin amyloidosis105210C2751492OMIM137712405176300
HP:0001257HP:0002179Opisthotonus1TTR CL E G H7276105210Amyloidogenic transthyretin amyloidosis105210C2751492OMIM137712405176300
HP:0001257HP:0002191Progressive spasticity1TTR CL E G H7276105210Amyloidogenic transthyretin amyloidosis105210C2751492OMIM137712405176300
HP:0001257HP:0001264Spastic diplegia1TTR CL E G H7276105210Amyloidogenic transthyretin amyloidosis105210C2751492OMIM137712405176300
HP:0001257HP:0002464Spastic dysarthria1TTR CL E G H7276105210Amyloidogenic transthyretin amyloidosis105210C2751492OMIM137712405176300
HP:0001257HP:0002064Spastic gait1TTR CL E G H7276105210Amyloidogenic transthyretin amyloidosis105210C2751492OMIM137712405176300
HP:0001257HP:0011099Spastic hemiparesis1TTR CL E G H7276105210Amyloidogenic transthyretin amyloidosis105210C2751492OMIM137712405176300
HP:0001257HP:0001285Spastic tetraparesis1TTR CL E G H7276105210Amyloidogenic transthyretin amyloidosis105210C2751492OMIM137712405176300
HP:0001257HP:0002510Spastic tetraplegia1TTR CL E G H7276105210Amyloidogenic transthyretin amyloidosis105210C2751492OMIM137712405176300
HP:0001257HP:0002501Spasticity of pharyngeal muscles1TTR CL E G H7276105210Amyloidogenic transthyretin amyloidosis105210C2751492OMIM137712405176300
HP:0001257HP:0006986Upper limb spasticity1TTR CL E G H7276105210Amyloidogenic transthyretin amyloidosis105210C2751492OMIM137712405176300
HP:0001257HP:0002491Spasticity of facial muscles1TUBB3 CL E G H10381614039Cortical dysplasia, complex, with other brain malformations 1614039C3808397OMIM132020772602661
HP:0001257HP:0031866Clasp-knife sign1TUBB3 CL E G H10381614039Cortical dysplasia, complex, with other brain malformations 1614039C3808397OMIM132020772602661
HP:0001257HP:0002061Lower limb spasticity1TUBB3 CL E G H10381614039Cortical dysplasia, complex, with other brain malformations 1614039C3808397OMIM132020772602661
HP:0001257HP:0002179Opisthotonus1TUBB3 CL E G H10381614039Cortical dysplasia, complex, with other brain malformations 1614039C3808397OMIM132020772602661
HP:0001257HP:0002191Progressive spasticity1TUBB3 CL E G H10381614039Cortical dysplasia, complex, with other brain malformations 1614039C3808397OMIM132020772602661
HP:0001257HP:0001264Spastic diplegia1TUBB3 CL E G H10381614039Cortical dysplasia, complex, with other brain malformations 1614039C3808397OMIM132020772602661
HP:0001257HP:0002464Spastic dysarthria1TUBB3 CL E G H10381614039Cortical dysplasia, complex, with other brain malformations 1614039C3808397OMIM132020772602661
HP:0001257HP:0002064Spastic gait1TUBB3 CL E G H10381614039Cortical dysplasia, complex, with other brain malformations 1614039C3808397OMIM132020772602661
HP:0001257HP:0011099Spastic hemiparesis1TUBB3 CL E G H10381614039Cortical dysplasia, complex, with other brain malformations 1614039C3808397OMIM132020772602661
HP:0001257HP:0001285Spastic tetraparesis1TUBB3 CL E G H10381614039Cortical dysplasia, complex, with other brain malformations 1614039C3808397OMIM132020772602661
HP:0001257HP:0002510Spastic tetraplegia1TUBB3 CL E G H10381614039Cortical dysplasia, complex, with other brain malformations 1614039C3808397OMIM132020772602661
HP:0001257HP:0002501Spasticity of pharyngeal muscles1TUBB3 CL E G H10381614039Cortical dysplasia, complex, with other brain malformations 1614039C3808397OMIM132020772602661
HP:0001257HP:0006986Upper limb spasticity1TUBB3 CL E G H10381614039Cortical dysplasia, complex, with other brain malformations 1614039C3808397OMIM132020772602661
HP:0001257HP:0002491Spasticity of facial muscles1TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM127220774602662
HP:0001257HP:0031866Clasp-knife sign1TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM127220774602662
HP:0001257HP:0002061Lower limb spasticity1TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM127220774602662
HP:0001257HP:0002179Opisthotonus1TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM127220774602662
HP:0001257HP:0002191Progressive spasticity1TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM127220774602662
HP:0001257HP:0001264Spastic diplegia1TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM127220774602662
HP:0001257HP:0002464Spastic dysarthria1TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM127220774602662
HP:0001257HP:0002064Spastic gait1TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM127220774602662
HP:0001257HP:0011099Spastic hemiparesis1TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM127220774602662
HP:0001257HP:0001285Spastic tetraparesis1TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM127220774602662
HP:0001257HP:0002510Spastic tetraplegia1TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM127220774602662
HP:0001257HP:0002501Spasticity of pharyngeal muscles1TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM127220774602662
HP:0001257HP:0006986Upper limb spasticity1TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM127220774602662
HP:0001257HP:0002491Spasticity of facial muscles1TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM17617772609063
HP:0001257HP:0031866Clasp-knife sign1TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM17617772609063
HP:0001257HP:0002061Lower limb spasticity1TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM17617772609063
HP:0001257HP:0002179Opisthotonus1TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM17617772609063
HP:0001257HP:0002191Progressive spasticity1TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM17617772609063
HP:0001257HP:0001264Spastic diplegia1TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM17617772609063
HP:0001257HP:0002464Spastic dysarthria1TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM17617772609063
HP:0001257HP:0002064Spastic gait1TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM17617772609063
HP:0001257HP:0011099Spastic hemiparesis1TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM17617772609063
HP:0001257HP:0001285Spastic tetraparesis1TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM17617772609063
HP:0001257HP:0002510Spastic tetraplegia1TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM17617772609063
HP:0001257HP:0002501Spasticity of pharyngeal muscles1TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM17617772609063
HP:0001257HP:0006986Upper limb spasticity1TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM17617772609063
HP:0001257HP:0002491Spasticity of facial muscles1TYROBP CL E G H73052770ORPHA111012449604142
HP:0001257HP:0031866Clasp-knife sign1TYROBP CL E G H73052770ORPHA111012449604142
HP:0001257HP:0002061Lower limb spasticity1TYROBP CL E G H73052770ORPHA111012449604142
HP:0001257HP:0002179Opisthotonus1TYROBP CL E G H73052770ORPHA111012449604142
HP:0001257HP:0002191Progressive spasticity1TYROBP CL E G H73052770ORPHA111012449604142
HP:0001257HP:0001264Spastic diplegia1TYROBP CL E G H73052770ORPHA111012449604142
HP:0001257HP:0002464Spastic dysarthria1TYROBP CL E G H73052770ORPHA111012449604142
HP:0001257HP:0002064Spastic gait1TYROBP CL E G H73052770ORPHA111012449604142
HP:0001257HP:0011099Spastic hemiparesis1TYROBP CL E G H73052770ORPHA111012449604142
HP:0001257HP:0001285Spastic tetraparesis1TYROBP CL E G H73052770ORPHA111012449604142
HP:0001257HP:0002510Spastic tetraplegia1TYROBP CL E G H73052770ORPHA111012449604142
HP:0001257HP:0002501Spasticity of pharyngeal muscles1TYROBP CL E G H73052770ORPHA111012449604142
HP:0001257HP:0006986Upper limb spasticity1TYROBP CL E G H73052770ORPHA111012449604142
HP:0001257HP:0002491Spasticity of facial muscles1TYROBP CL E G H7305221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy221770C1857316OMIM111012449604142
HP:0001257HP:0031866Clasp-knife sign1TYROBP CL E G H7305221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy221770C1857316OMIM111012449604142
HP:0001257HP:0002061Lower limb spasticity1TYROBP CL E G H7305221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy221770C1857316OMIM111012449604142
HP:0001257HP:0002179Opisthotonus1TYROBP CL E G H7305221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy221770C1857316OMIM111012449604142
HP:0001257HP:0002191Progressive spasticity1TYROBP CL E G H7305221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy221770C1857316OMIM111012449604142
HP:0001257HP:0001264Spastic diplegia1TYROBP CL E G H7305221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy221770C1857316OMIM111012449604142
HP:0001257HP:0002464Spastic dysarthria1TYROBP CL E G H7305221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy221770C1857316OMIM111012449604142
HP:0001257HP:0002064Spastic gait1TYROBP CL E G H7305221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy221770C1857316OMIM111012449604142
HP:0001257HP:0011099Spastic hemiparesis1TYROBP CL E G H7305221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy221770C1857316OMIM111012449604142
HP:0001257HP:0001285Spastic tetraparesis1TYROBP CL E G H7305221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy221770C1857316OMIM111012449604142
HP:0001257HP:0002510Spastic tetraplegia1TYROBP CL E G H7305221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy221770C1857316OMIM111012449604142
HP:0001257HP:0002501Spasticity of pharyngeal muscles1TYROBP CL E G H7305221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy221770C1857316OMIM111012449604142
HP:0001257HP:0006986Upper limb spasticity1TYROBP CL E G H7305221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy221770C1857316OMIM111012449604142
HP:0001257HP:0002491Spasticity of facial muscles1UBA5 CL E G H79876617132Epileptic encephalopathy, early infantile, 44617132C4310700OMIM122323230610552
HP:0001257HP:0031866Clasp-knife sign1UBA5 CL E G H79876617132Epileptic encephalopathy, early infantile, 44617132C4310700OMIM122323230610552
HP:0001257HP:0002061Lower limb spasticity1UBA5 CL E G H79876617132Epileptic encephalopathy, early infantile, 44617132C4310700OMIM122323230610552
HP:0001257HP:0002179Opisthotonus1UBA5 CL E G H79876617132Epileptic encephalopathy, early infantile, 44617132C4310700OMIM122323230610552
HP:0001257HP:0002191Progressive spasticity1UBA5 CL E G H79876617132Epileptic encephalopathy, early infantile, 44617132C4310700OMIM122323230610552
HP:0001257HP:0001264Spastic diplegia1UBA5 CL E G H79876617132Epileptic encephalopathy, early infantile, 44617132C4310700OMIM122323230610552
HP:0001257HP:0002464Spastic dysarthria1UBA5 CL E G H79876617132Epileptic encephalopathy, early infantile, 44617132C4310700OMIM122323230610552
HP:0001257HP:0002064Spastic gait1UBA5 CL E G H79876617132Epileptic encephalopathy, early infantile, 44617132C4310700OMIM122323230610552
HP:0001257HP:0011099Spastic hemiparesis1UBA5 CL E G H79876617132Epileptic encephalopathy, early infantile, 44617132C4310700OMIM122323230610552
HP:0001257HP:0001285Spastic tetraparesis1UBA5 CL E G H79876617132Epileptic encephalopathy, early infantile, 44617132C4310700OMIM122323230610552
HP:0001257HP:0002510Spastic tetraplegia1UBA5 CL E G H79876617132Epileptic encephalopathy, early infantile, 44617132C4310700OMIM122323230610552
HP:0001257HP:0002501Spasticity of pharyngeal muscles1UBA5 CL E G H79876617132Epileptic encephalopathy, early infantile, 44617132C4310700OMIM122323230610552
HP:0001257HP:0006986Upper limb spasticity1UBA5 CL E G H79876617132Epileptic encephalopathy, early infantile, 44617132C4310700OMIM122323230610552
HP:0001257HP:0002491Spasticity of facial muscles1UBQLN2 CL E G H29978803ORPHA127312509300264
HP:0001257HP:0031866Clasp-knife sign1UBQLN2 CL E G H29978803ORPHA127312509300264
HP:0001257HP:0002061Lower limb spasticity1UBQLN2 CL E G H29978803ORPHA127312509300264
HP:0001257HP:0002179Opisthotonus1UBQLN2 CL E G H29978803ORPHA127312509300264
HP:0001257HP:0002191Progressive spasticity1UBQLN2 CL E G H29978803ORPHA127312509300264
HP:0001257HP:0001264Spastic diplegia1UBQLN2 CL E G H29978803ORPHA127312509300264
HP:0001257HP:0002464Spastic dysarthria1UBQLN2 CL E G H29978803ORPHA127312509300264
HP:0001257HP:0002064Spastic gait1UBQLN2 CL E G H29978803ORPHA127312509300264
HP:0001257HP:0011099Spastic hemiparesis1UBQLN2 CL E G H29978803ORPHA127312509300264
HP:0001257HP:0001285Spastic tetraparesis1UBQLN2 CL E G H29978803ORPHA127312509300264
HP:0001257HP:0002510Spastic tetraplegia1UBQLN2 CL E G H29978803ORPHA127312509300264
HP:0001257HP:0002501Spasticity of pharyngeal muscles1UBQLN2 CL E G H29978803ORPHA127312509300264
HP:0001257HP:0006986Upper limb spasticity1UBQLN2 CL E G H29978803ORPHA127312509300264
HP:0001257HP:0002491Spasticity of facial muscles1UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM18412511600673
HP:0001257HP:0031866Clasp-knife sign1UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM18412511600673
HP:0001257HP:0002061Lower limb spasticity1UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM18412511600673
HP:0001257HP:0002179Opisthotonus1UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM18412511600673
HP:0001257HP:0002191Progressive spasticity1UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM18412511600673
HP:0001257HP:0001264Spastic diplegia1UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM18412511600673
HP:0001257HP:0002464Spastic dysarthria1UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM18412511600673
HP:0001257HP:0002064Spastic gait1UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM18412511600673
HP:0001257HP:0011099Spastic hemiparesis1UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM18412511600673
HP:0001257HP:0001285Spastic tetraparesis1UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM18412511600673
HP:0001257HP:0002510Spastic tetraplegia1UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM18412511600673
HP:0001257HP:0002501Spasticity of pharyngeal muscles1UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM18412511600673
HP:0001257HP:0006986Upper limb spasticity1UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM18412511600673
HP:0001257HP:0002491Spasticity of facial muscles1UFC1 CL E G H51506618076NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH618076CN252685OMIM13326941610554
HP:0001257HP:0031866Clasp-knife sign1UFC1 CL E G H51506618076NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH618076CN252685OMIM13326941610554
HP:0001257HP:0002061Lower limb spasticity1UFC1 CL E G H51506618076NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH618076CN252685OMIM13326941610554
HP:0001257HP:0002179Opisthotonus1UFC1 CL E G H51506618076NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH618076CN252685OMIM13326941610554
HP:0001257HP:0002191Progressive spasticity1UFC1 CL E G H51506618076NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH618076CN252685OMIM13326941610554
HP:0001257HP:0001264Spastic diplegia1UFC1 CL E G H51506618076NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH618076CN252685OMIM13326941610554
HP:0001257HP:0002464Spastic dysarthria1UFC1 CL E G H51506618076NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH618076CN252685OMIM13326941610554
HP:0001257HP:0002064Spastic gait1UFC1 CL E G H51506618076NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH618076CN252685OMIM13326941610554
HP:0001257HP:0011099Spastic hemiparesis1UFC1 CL E G H51506618076NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH618076CN252685OMIM13326941610554
HP:0001257HP:0001285Spastic tetraparesis1UFC1 CL E G H51506618076NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH618076CN252685OMIM13326941610554
HP:0001257HP:0002510Spastic tetraplegia1UFC1 CL E G H51506618076NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH618076CN252685OMIM13326941610554
HP:0001257HP:0002501Spasticity of pharyngeal muscles1UFC1 CL E G H51506618076NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH618076CN252685OMIM13326941610554
HP:0001257HP:0006986Upper limb spasticity1UFC1 CL E G H51506618076NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH618076CN252685OMIM13326941610554
HP:0001257HP:0002491Spasticity of facial muscles1UFM1 CL E G H51569617899LEUKODYSTROPHY, HYPOMYELINATING, 14617899CN845004OMIM17720597610553
HP:0001257HP:0031866Clasp-knife sign1UFM1 CL E G H51569617899LEUKODYSTROPHY, HYPOMYELINATING, 14617899CN845004OMIM17720597610553
HP:0001257HP:0002061Lower limb spasticity1UFM1 CL E G H51569617899LEUKODYSTROPHY, HYPOMYELINATING, 14617899CN845004OMIM17720597610553
HP:0001257HP:0002179Opisthotonus1UFM1 CL E G H51569617899LEUKODYSTROPHY, HYPOMYELINATING, 14617899CN845004OMIM17720597610553
HP:0001257HP:0002191Progressive spasticity1UFM1 CL E G H51569617899LEUKODYSTROPHY, HYPOMYELINATING, 14617899CN845004OMIM17720597610553
HP:0001257HP:0001264Spastic diplegia1UFM1 CL E G H51569617899LEUKODYSTROPHY, HYPOMYELINATING, 14617899CN845004OMIM17720597610553
HP:0001257HP:0002464Spastic dysarthria1UFM1 CL E G H51569617899LEUKODYSTROPHY, HYPOMYELINATING, 14617899CN845004OMIM17720597610553
HP:0001257HP:0002064Spastic gait1UFM1 CL E G H51569617899LEUKODYSTROPHY, HYPOMYELINATING, 14617899CN845004OMIM17720597610553
HP:0001257HP:0011099Spastic hemiparesis1UFM1 CL E G H51569617899LEUKODYSTROPHY, HYPOMYELINATING, 14617899CN845004OMIM17720597610553
HP:0001257HP:0001285Spastic tetraparesis1UFM1 CL E G H51569617899LEUKODYSTROPHY, HYPOMYELINATING, 14617899CN845004OMIM17720597610553
HP:0001257HP:0002510Spastic tetraplegia1UFM1 CL E G H51569617899LEUKODYSTROPHY, HYPOMYELINATING, 14617899CN845004OMIM17720597610553
HP:0001257HP:0002501Spasticity of pharyngeal muscles1UFM1 CL E G H51569617899LEUKODYSTROPHY, HYPOMYELINATING, 14617899CN845004OMIM17720597610553
HP:0001257HP:0006986Upper limb spasticity1UFM1 CL E G H51569617899LEUKODYSTROPHY, HYPOMYELINATING, 14617899CN845004OMIM17720597610553
HP:0001257HP:0002491Spasticity of facial muscles1UNC13A CL E G H23025803ORPHA114023150609894
HP:0001257HP:0031866Clasp-knife sign1UNC13A CL E G H23025803ORPHA114023150609894
HP:0001257HP:0002061Lower limb spasticity1UNC13A CL E G H23025803ORPHA114023150609894
HP:0001257HP:0002179Opisthotonus1UNC13A CL E G H23025803ORPHA114023150609894
HP:0001257HP:0002191Progressive spasticity1UNC13A CL E G H23025803ORPHA114023150609894
HP:0001257HP:0001264Spastic diplegia1UNC13A CL E G H23025803ORPHA114023150609894
HP:0001257HP:0002464Spastic dysarthria1UNC13A CL E G H23025803ORPHA114023150609894
HP:0001257HP:0002064Spastic gait1UNC13A CL E G H23025803ORPHA114023150609894
HP:0001257HP:0011099Spastic hemiparesis1UNC13A CL E G H23025803ORPHA114023150609894
HP:0001257HP:0001285Spastic tetraparesis1UNC13A CL E G H23025803ORPHA114023150609894
HP:0001257HP:0002510Spastic tetraplegia1UNC13A CL E G H23025803ORPHA114023150609894
HP:0001257HP:0002501Spasticity of pharyngeal muscles1UNC13A CL E G H23025803ORPHA114023150609894
HP:0001257HP:0006986Upper limb spasticity1UNC13A CL E G H23025803ORPHA114023150609894
HP:0001257HP:0002491Spasticity of facial muscles1UNC80 CL E G H285175616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 2616801C4225203OMIM1181626582612636
HP:0001257HP:0031866Clasp-knife sign1UNC80 CL E G H285175616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 2616801C4225203OMIM1181626582612636
HP:0001257HP:0002061Lower limb spasticity1UNC80 CL E G H285175616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 2616801C4225203OMIM1181626582612636
HP:0001257HP:0002179Opisthotonus1UNC80 CL E G H285175616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 2616801C4225203OMIM1181626582612636
HP:0001257HP:0002191Progressive spasticity1UNC80 CL E G H285175616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 2616801C4225203OMIM1181626582612636
HP:0001257HP:0001264Spastic diplegia1UNC80 CL E G H285175616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 2616801C4225203OMIM1181626582612636
HP:0001257HP:0002464Spastic dysarthria1UNC80 CL E G H285175616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 2616801C4225203OMIM1181626582612636
HP:0001257HP:0002064Spastic gait1UNC80 CL E G H285175616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 2616801C4225203OMIM1181626582612636
HP:0001257HP:0011099Spastic hemiparesis1UNC80 CL E G H285175616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 2616801C4225203OMIM1181626582612636
HP:0001257HP:0001285Spastic tetraparesis1UNC80 CL E G H285175616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 2616801C4225203OMIM1181626582612636
HP:0001257HP:0002510Spastic tetraplegia1UNC80 CL E G H285175616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 2616801C4225203OMIM1181626582612636
HP:0001257HP:0002501Spasticity of pharyngeal muscles1UNC80 CL E G H285175616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 2616801C4225203OMIM1181626582612636
HP:0001257HP:0006986Upper limb spasticity1UNC80 CL E G H285175616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 2616801C4225203OMIM1181626582612636
HP:0001257HP:0002491Spasticity of facial muscles1VAPB CL E G H9217803ORPHA135912649605704
HP:0001257HP:0031866Clasp-knife sign1VAPB CL E G H9217803ORPHA135912649605704
HP:0001257HP:0002061Lower limb spasticity1VAPB CL E G H9217803ORPHA135912649605704
HP:0001257HP:0002179Opisthotonus1VAPB CL E G H9217803ORPHA135912649605704
HP:0001257HP:0002191Progressive spasticity1VAPB CL E G H9217803ORPHA135912649605704
HP:0001257HP:0001264Spastic diplegia1VAPB CL E G H9217803ORPHA135912649605704
HP:0001257HP:0002464Spastic dysarthria1VAPB CL E G H9217803ORPHA135912649605704
HP:0001257HP:0002064Spastic gait1VAPB CL E G H9217803ORPHA135912649605704
HP:0001257HP:0011099Spastic hemiparesis1VAPB CL E G H9217803ORPHA135912649605704
HP:0001257HP:0001285Spastic tetraparesis1VAPB CL E G H9217803ORPHA135912649605704
HP:0001257HP:0002510Spastic tetraplegia1VAPB CL E G H9217803ORPHA135912649605704
HP:0001257HP:0002501Spasticity of pharyngeal muscles1VAPB CL E G H9217803ORPHA135912649605704
HP:0001257HP:0006986Upper limb spasticity1VAPB CL E G H9217803ORPHA135912649605704
HP:0001257HP:0002491Spasticity of facial muscles1VCP CL E G H7415803ORPHA160712666601023
HP:0001257HP:0031866Clasp-knife sign1VCP CL E G H7415803ORPHA160712666601023
HP:0001257HP:0002061Lower limb spasticity1VCP CL E G H7415803ORPHA160712666601023
HP:0001257HP:0002179Opisthotonus1VCP CL E G H7415803ORPHA160712666601023
HP:0001257HP:0002191Progressive spasticity1VCP CL E G H7415803ORPHA160712666601023
HP:0001257HP:0001264Spastic diplegia1VCP CL E G H7415803ORPHA160712666601023
HP:0001257HP:0002464Spastic dysarthria1VCP CL E G H7415803ORPHA160712666601023
HP:0001257HP:0002064Spastic gait1VCP CL E G H7415803ORPHA160712666601023
HP:0001257HP:0011099Spastic hemiparesis1VCP CL E G H7415803ORPHA160712666601023
HP:0001257HP:0001285Spastic tetraparesis1VCP CL E G H7415803ORPHA160712666601023
HP:0001257HP:0002510Spastic tetraplegia1VCP CL E G H7415803ORPHA160712666601023
HP:0001257HP:0002501Spasticity of pharyngeal muscles1VCP CL E G H7415803ORPHA160712666601023
HP:0001257HP:0006986Upper limb spasticity1VCP CL E G H7415803ORPHA160712666601023
HP:0001257HP:0002491Spasticity of facial muscles1VPS11 CL E G H55823466934ORPHA122814583608549
HP:0001257HP:0031866Clasp-knife sign1VPS11 CL E G H55823466934ORPHA122814583608549
HP:0001257HP:0002061Lower limb spasticity1VPS11 CL E G H55823466934ORPHA122814583608549
HP:0001257HP:0002179Opisthotonus1VPS11 CL E G H55823466934ORPHA122814583608549
HP:0001257HP:0002191Progressive spasticity1VPS11 CL E G H55823466934ORPHA122814583608549
HP:0001257HP:0001264Spastic diplegia1VPS11 CL E G H55823466934ORPHA122814583608549
HP:0001257HP:0002464Spastic dysarthria1VPS11 CL E G H55823466934ORPHA122814583608549
HP:0001257HP:0002064Spastic gait1VPS11 CL E G H55823466934ORPHA122814583608549
HP:0001257HP:0011099Spastic hemiparesis1VPS11 CL E G H55823466934ORPHA122814583608549
HP:0001257HP:0001285Spastic tetraparesis1VPS11 CL E G H55823466934ORPHA122814583608549
HP:0001257HP:0002510Spastic tetraplegia1VPS11 CL E G H55823466934ORPHA122814583608549
HP:0001257HP:0002501Spasticity of pharyngeal muscles1VPS11 CL E G H55823466934ORPHA122814583608549
HP:0001257HP:0006986Upper limb spasticity1VPS11 CL E G H55823466934ORPHA122814583608549
HP:0001257HP:0002491Spasticity of facial muscles1VPS11 CL E G H55823616683Leukodystrophy, hypomyelinating, 12616683C4225247OMIM122814583608549
HP:0001257HP:0031866Clasp-knife sign1VPS11 CL E G H55823616683Leukodystrophy, hypomyelinating, 12616683C4225247OMIM122814583608549
HP:0001257HP:0002061Lower limb spasticity1VPS11 CL E G H55823616683Leukodystrophy, hypomyelinating, 12616683C4225247OMIM122814583608549
HP:0001257HP:0002179Opisthotonus1VPS11 CL E G H55823616683Leukodystrophy, hypomyelinating, 12616683C4225247OMIM122814583608549
HP:0001257HP:0002191Progressive spasticity1VPS11 CL E G H55823616683Leukodystrophy, hypomyelinating, 12616683C4225247OMIM122814583608549
HP:0001257HP:0001264Spastic diplegia1VPS11 CL E G H55823616683Leukodystrophy, hypomyelinating, 12616683C4225247OMIM122814583608549
HP:0001257HP:0002464Spastic dysarthria1VPS11 CL E G H55823616683Leukodystrophy, hypomyelinating, 12616683C4225247OMIM122814583608549
HP:0001257HP:0002064Spastic gait1VPS11 CL E G H55823616683Leukodystrophy, hypomyelinating, 12616683C4225247OMIM122814583608549
HP:0001257HP:0011099Spastic hemiparesis1VPS11 CL E G H55823616683Leukodystrophy, hypomyelinating, 12616683C4225247OMIM122814583608549
HP:0001257HP:0001285Spastic tetraparesis1VPS11 CL E G H55823616683Leukodystrophy, hypomyelinating, 12616683C4225247OMIM122814583608549
HP:0001257HP:0002510Spastic tetraplegia1VPS11 CL E G H55823616683Leukodystrophy, hypomyelinating, 12616683C4225247OMIM122814583608549
HP:0001257HP:0002501Spasticity of pharyngeal muscles1VPS11 CL E G H55823616683Leukodystrophy, hypomyelinating, 12616683C4225247OMIM122814583608549
HP:0001257HP:0006986Upper limb spasticity1VPS11 CL E G H55823616683Leukodystrophy, hypomyelinating, 12616683C4225247OMIM122814583608549
HP:0001257HP:0002491Spasticity of facial muscles1VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0001257HP:0031866Clasp-knife sign1VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0001257HP:0002061Lower limb spasticity1VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0001257HP:0002179Opisthotonus1VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0001257HP:0002191Progressive spasticity1VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0001257HP:0001264Spastic diplegia1VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0001257HP:0002464Spastic dysarthria1VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0001257HP:0002064Spastic gait1VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0001257HP:0011099Spastic hemiparesis1VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0001257HP:0001285Spastic tetraparesis1VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0001257HP:0002510Spastic tetraplegia1VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0001257HP:0002501Spasticity of pharyngeal muscles1VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0001257HP:0006986Upper limb spasticity1VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0001257HP:0002491Spasticity of facial muscles1WDR73 CL E G H8494283472ORPHA122025928616144
HP:0001257HP:0031866Clasp-knife sign1WDR73 CL E G H8494283472ORPHA122025928616144
HP:0001257HP:0002061Lower limb spasticity1WDR73 CL E G H8494283472ORPHA122025928616144
HP:0001257HP:0002179Opisthotonus1WDR73 CL E G H8494283472ORPHA122025928616144
HP:0001257HP:0002191Progressive spasticity1WDR73 CL E G H8494283472ORPHA122025928616144
HP:0001257HP:0001264Spastic diplegia1WDR73 CL E G H8494283472ORPHA122025928616144
HP:0001257HP:0002464Spastic dysarthria1WDR73 CL E G H8494283472ORPHA122025928616144
HP:0001257HP:0002064Spastic gait1WDR73 CL E G H8494283472ORPHA122025928616144
HP:0001257HP:0011099Spastic hemiparesis1WDR73 CL E G H8494283472ORPHA122025928616144
HP:0001257HP:0001285Spastic tetraparesis1WDR73 CL E G H8494283472ORPHA122025928616144
HP:0001257HP:0002510Spastic tetraplegia1WDR73 CL E G H8494283472ORPHA122025928616144
HP:0001257HP:0002501Spasticity of pharyngeal muscles1WDR73 CL E G H8494283472ORPHA122025928616144
HP:0001257HP:0006986Upper limb spasticity1WDR73 CL E G H8494283472ORPHA122025928616144
HP:0001257HP:0002491Spasticity of facial muscles1WWOX CL E G H51741616211Epileptic encephalopathy, early infantile, 28616211C4015519OMIM1110212799605131
HP:0001257HP:0031866Clasp-knife sign1WWOX CL E G H51741616211Epileptic encephalopathy, early infantile, 28616211C4015519OMIM1110212799605131
HP:0001257HP:0002061Lower limb spasticity1WWOX CL E G H51741616211Epileptic encephalopathy, early infantile, 28616211C4015519OMIM1110212799605131
HP:0001257HP:0002179Opisthotonus1WWOX CL E G H51741616211Epileptic encephalopathy, early infantile, 28616211C4015519OMIM1110212799605131
HP:0001257HP:0002191Progressive spasticity1WWOX CL E G H51741616211Epileptic encephalopathy, early infantile, 28616211C4015519OMIM1110212799605131
HP:0001257HP:0001264Spastic diplegia1WWOX CL E G H51741616211Epileptic encephalopathy, early infantile, 28616211C4015519OMIM1110212799605131
HP:0001257HP:0002464Spastic dysarthria1WWOX CL E G H51741616211Epileptic encephalopathy, early infantile, 28616211C4015519OMIM1110212799605131
HP:0001257HP:0002064Spastic gait1WWOX CL E G H51741616211Epileptic encephalopathy, early infantile, 28616211C4015519OMIM1110212799605131
HP:0001257HP:0011099Spastic hemiparesis1WWOX CL E G H51741616211Epileptic encephalopathy, early infantile, 28616211C4015519OMIM1110212799605131
HP:0001257HP:0001285Spastic tetraparesis1WWOX CL E G H51741616211Epileptic encephalopathy, early infantile, 28616211C4015519OMIM1110212799605131
HP:0001257HP:0002510Spastic tetraplegia1WWOX CL E G H51741616211Epileptic encephalopathy, early infantile, 28616211C4015519OMIM1110212799605131
HP:0001257HP:0002501Spasticity of pharyngeal muscles1WWOX CL E G H51741616211Epileptic encephalopathy, early infantile, 28616211C4015519OMIM1110212799605131
HP:0001257HP:0006986Upper limb spasticity1WWOX CL E G H51741616211Epileptic encephalopathy, early infantile, 28616211C4015519OMIM1110212799605131
HP:0001257HP:0002491Spasticity of facial muscles1XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM132112814611153
HP:0001257HP:0031866Clasp-knife sign1XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM132112814611153
HP:0001257HP:0002061Lower limb spasticity1XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM132112814611153
HP:0001257HP:0002179Opisthotonus1XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM132112814611153
HP:0001257HP:0002191Progressive spasticity1XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM132112814611153
HP:0001257HP:0001264Spastic diplegia1XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM132112814611153
HP:0001257HP:0002464Spastic dysarthria1XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM132112814611153
HP:0001257HP:0002064Spastic gait1XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM132112814611153
HP:0001257HP:0011099Spastic hemiparesis1XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM132112814611153
HP:0001257HP:0001285Spastic tetraparesis1XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM132112814611153
HP:0001257HP:0002510Spastic tetraplegia1XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM132112814611153
HP:0001257HP:0002501Spasticity of pharyngeal muscles1XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM132112814611153
HP:0001257HP:0006986Upper limb spasticity1XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM132112814611153
HP:0001257HP:0002491Spasticity of facial muscles1ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM127924931300897
HP:0001257HP:0031866Clasp-knife sign1ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM127924931300897
HP:0001257HP:0002061Lower limb spasticity1ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM127924931300897
HP:0001257HP:0002179Opisthotonus1ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM127924931300897
HP:0001257HP:0002191Progressive spasticity1ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM127924931300897
HP:0001257HP:0001264Spastic diplegia1ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM127924931300897
HP:0001257HP:0002464Spastic dysarthria1ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM127924931300897
HP:0001257HP:0002064Spastic gait1ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM127924931300897
HP:0001257HP:0011099Spastic hemiparesis1ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM127924931300897
HP:0001257HP:0001285Spastic tetraparesis1ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM127924931300897
HP:0001257HP:0002510Spastic tetraplegia1ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM127924931300897
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM127924931300897
HP:0001257HP:0006986Upper limb spasticity1ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM127924931300897
HP:0001257HP:0002491Spasticity of facial muscles1ZNF335 CL E G H63925615095Primary autosomal recessive microcephaly 10615095C3554499OMIM150715807610827
HP:0001257HP:0031866Clasp-knife sign1ZNF335 CL E G H63925615095Primary autosomal recessive microcephaly 10615095C3554499OMIM150715807610827
HP:0001257HP:0002061Lower limb spasticity1ZNF335 CL E G H63925615095Primary autosomal recessive microcephaly 10615095C3554499OMIM150715807610827
HP:0001257HP:0002179Opisthotonus1ZNF335 CL E G H63925615095Primary autosomal recessive microcephaly 10615095C3554499OMIM150715807610827
HP:0001257HP:0002191Progressive spasticity1ZNF335 CL E G H63925615095Primary autosomal recessive microcephaly 10615095C3554499OMIM150715807610827
HP:0001257HP:0001264Spastic diplegia1ZNF335 CL E G H63925615095Primary autosomal recessive microcephaly 10615095C3554499OMIM150715807610827
HP:0001257HP:0002464Spastic dysarthria1ZNF335 CL E G H63925615095Primary autosomal recessive microcephaly 10615095C3554499OMIM150715807610827
HP:0001257HP:0002064Spastic gait1ZNF335 CL E G H63925615095Primary autosomal recessive microcephaly 10615095C3554499OMIM150715807610827
HP:0001257HP:0011099Spastic hemiparesis1ZNF335 CL E G H63925615095Primary autosomal recessive microcephaly 10615095C3554499OMIM150715807610827
HP:0001257HP:0001285Spastic tetraparesis1ZNF335 CL E G H63925615095Primary autosomal recessive microcephaly 10615095C3554499OMIM150715807610827
HP:0001257HP:0002510Spastic tetraplegia1ZNF335 CL E G H63925615095Primary autosomal recessive microcephaly 10615095C3554499OMIM150715807610827
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ZNF335 CL E G H63925615095Primary autosomal recessive microcephaly 10615095C3554499OMIM150715807610827
HP:0001257HP:0006986Upper limb spasticity1ZNF335 CL E G H63925615095Primary autosomal recessive microcephaly 10615095C3554499OMIM150715807610827
HP:0001257HP:0002491Spasticity of facial muscles1ZNF592 CL E G H964083472ORPHA112828986613624
HP:0001257HP:0031866Clasp-knife sign1ZNF592 CL E G H964083472ORPHA112828986613624
HP:0001257HP:0002061Lower limb spasticity1ZNF592 CL E G H964083472ORPHA112828986613624
HP:0001257HP:0002179Opisthotonus1ZNF592 CL E G H964083472ORPHA112828986613624
HP:0001257HP:0002191Progressive spasticity1ZNF592 CL E G H964083472ORPHA112828986613624
HP:0001257HP:0001264Spastic diplegia1ZNF592 CL E G H964083472ORPHA112828986613624
HP:0001257HP:0002464Spastic dysarthria1ZNF592 CL E G H964083472ORPHA112828986613624
HP:0001257HP:0002064Spastic gait1ZNF592 CL E G H964083472ORPHA112828986613624
HP:0001257HP:0011099Spastic hemiparesis1ZNF592 CL E G H964083472ORPHA112828986613624
HP:0001257HP:0001285Spastic tetraparesis1ZNF592 CL E G H964083472ORPHA112828986613624
HP:0001257HP:0002510Spastic tetraplegia1ZNF592 CL E G H964083472ORPHA112828986613624
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ZNF592 CL E G H964083472ORPHA112828986613624
HP:0001257HP:0006986Upper limb spasticity1ZNF592 CL E G H964083472ORPHA112828986613624
HP:0001257HP:0002313Spastic paraparesis2AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0001257HP:0001258Spastic paraplegia2AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0001257HP:0002478Progressive spastic quadriplegia2AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0001257HP:0031957Spastic hemiparetic gait2AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0001257HP:0031958Spastic paraparetic gait2AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0001257HP:0002313Spastic paraparesis2AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM154321022612035
HP:0001257HP:0001258Spastic paraplegia2AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM154321022612035
HP:0001257HP:0002478Progressive spastic quadriplegia2AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM154321022612035
HP:0001257HP:0031957Spastic hemiparetic gait2AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM154321022612035
HP:0001257HP:0031958Spastic paraparetic gait2AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM154321022612035
HP:0001257HP:0002313Spastic paraparesis2ABCC8 CL E G H6833240800Leucine-induced hypoglycemia240800C0271714OMIM1189259600509
HP:0001257HP:0001258Spastic paraplegia2ABCC8 CL E G H6833240800Leucine-induced hypoglycemia240800C0271714OMIM1189259600509
HP:0001257HP:0002478Progressive spastic quadriplegia2ABCC8 CL E G H6833240800Leucine-induced hypoglycemia240800C0271714OMIM1189259600509
HP:0001257HP:0031957Spastic hemiparetic gait2ABCC8 CL E G H6833240800Leucine-induced hypoglycemia240800C0271714OMIM1189259600509
HP:0001257HP:0031958Spastic paraparetic gait2ABCC8 CL E G H6833240800Leucine-induced hypoglycemia240800C0271714OMIM1189259600509
HP:0001257HP:0002313Spastic paraparesis2ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM152915868613599
HP:0001257HP:0001258Spastic paraplegia2ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM152915868613599
HP:0001257HP:0002478Progressive spastic quadriplegia2ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM152915868613599
HP:0001257HP:0031957Spastic hemiparetic gait2ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM152915868613599
HP:0001257HP:0031958Spastic paraparetic gait2ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM152915868613599
HP:0001257HP:0002313Spastic paraparesis2ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM17316066617036
HP:0001257HP:0001258Spastic paraplegia2ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM17316066617036
HP:0001257HP:0002478Progressive spastic quadriplegia2ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM17316066617036
HP:0001257HP:0031957Spastic hemiparetic gait2ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM17316066617036
HP:0001257HP:0031958Spastic paraparetic gait2ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM17316066617036
HP:0001257HP:0002313Spastic paraparesis2ADAM22 CL E G H53616617933Early infantile epileptic encephalopathy 61617933CN244550OMIM189201603709
HP:0001257HP:0001258Spastic paraplegia2ADAM22 CL E G H53616617933Early infantile epileptic encephalopathy 61617933CN244550OMIM189201603709
HP:0001257HP:0002478Progressive spastic quadriplegia2ADAM22 CL E G H53616617933Early infantile epileptic encephalopathy 61617933CN244550OMIM189201603709
HP:0001257HP:0031957Spastic hemiparetic gait2ADAM22 CL E G H53616617933Early infantile epileptic encephalopathy 61617933CN244550OMIM189201603709
HP:0001257HP:0031958Spastic paraparetic gait2ADAM22 CL E G H53616617933Early infantile epileptic encephalopathy 61617933CN244550OMIM189201603709
HP:0001257HP:0002313Spastic paraparesis2AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1480315604581
HP:0001257HP:0001258Spastic paraplegia2AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1480315604581
HP:0001257HP:0002478Progressive spastic quadriplegia2AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1480315604581
HP:0001257HP:0031957Spastic hemiparetic gait2AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1480315604581
HP:0001257HP:0031958Spastic paraparetic gait2AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1480315604581
HP:0001257HP:0002313Spastic paraparesis2AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1509318613228
HP:0001257HP:0001258Spastic paraplegia2AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1509318613228
HP:0001257HP:0002478Progressive spastic quadriplegia2AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1509318613228
HP:0001257HP:0031957Spastic hemiparetic gait2AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1509318613228
HP:0001257HP:0031958Spastic paraparetic gait2AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1509318613228
HP:0001257HP:0002313Spastic paraparesis2ALDH18A1 CL E G H5832616586Spastic paraplegia 9b, autosomal recessive616586C4225272OMIM15869722138250
HP:0001257HP:0001258Spastic paraplegia2ALDH18A1 CL E G H5832616586Spastic paraplegia 9b, autosomal recessive616586C4225272OMIM15869722138250
HP:0001257HP:0002478Progressive spastic quadriplegia2ALDH18A1 CL E G H5832616586Spastic paraplegia 9b, autosomal recessive616586C4225272OMIM15869722138250
HP:0001257HP:0031957Spastic hemiparetic gait2ALDH18A1 CL E G H5832616586Spastic paraplegia 9b, autosomal recessive616586C4225272OMIM15869722138250
HP:0001257HP:0031958Spastic paraparetic gait2ALDH18A1 CL E G H5832616586Spastic paraplegia 9b, autosomal recessive616586C4225272OMIM15869722138250
HP:0001257HP:0002313Spastic paraparesis2ALDH3A2 CL E G H224270200Sjögren-Larsson syndrome270200C0037231OMIM1635403609523
HP:0001257HP:0001258Spastic paraplegia2ALDH3A2 CL E G H224270200Sjögren-Larsson syndrome270200C0037231OMIM1635403609523
HP:0001257HP:0002478Progressive spastic quadriplegia2ALDH3A2 CL E G H224270200Sjögren-Larsson syndrome270200C0037231OMIM1635403609523
HP:0001257HP:0031957Spastic hemiparetic gait2ALDH3A2 CL E G H224270200Sjögren-Larsson syndrome270200C0037231OMIM1635403609523
HP:0001257HP:0031958Spastic paraparetic gait2ALDH3A2 CL E G H224270200Sjögren-Larsson syndrome270200C0037231OMIM1635403609523
HP:0001257HP:0002313Spastic paraparesis2ALS2 CL E G H57679300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1947443606352
HP:0001257HP:0001258Spastic paraplegia2ALS2 CL E G H57679300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1947443606352
HP:0001257HP:0002478Progressive spastic quadriplegia2ALS2 CL E G H57679300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1947443606352
HP:0001257HP:0031957Spastic hemiparetic gait2ALS2 CL E G H57679300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1947443606352
HP:0001257HP:0031958Spastic paraparetic gait2ALS2 CL E G H57679300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1947443606352
HP:0001257HP:0002313Spastic paraparesis2AMACR CL E G H23600614307Alpha-methylacyl-CoA racemase deficiency614307C3280428OMIM1392451604489
HP:0001257HP:0001258Spastic paraplegia2AMACR CL E G H23600614307Alpha-methylacyl-CoA racemase deficiency614307C3280428OMIM1392451604489
HP:0001257HP:0002478Progressive spastic quadriplegia2AMACR CL E G H23600614307Alpha-methylacyl-CoA racemase deficiency614307C3280428OMIM1392451604489
HP:0001257HP:0031957Spastic hemiparetic gait2AMACR CL E G H23600614307Alpha-methylacyl-CoA racemase deficiency614307C3280428OMIM1392451604489
HP:0001257HP:0031958Spastic paraparetic gait2AMACR CL E G H23600614307Alpha-methylacyl-CoA racemase deficiency614307C3280428OMIM1392451604489
HP:0001257HP:0002313Spastic paraparesis2AMPD2 CL E G H271615809Pontocerebellar hypoplasia, type 9615809C4014354OMIM1392469102771
HP:0001257HP:0001258Spastic paraplegia2AMPD2 CL E G H271615809Pontocerebellar hypoplasia, type 9615809C4014354OMIM1392469102771
HP:0001257HP:0002478Progressive spastic quadriplegia2AMPD2 CL E G H271615809Pontocerebellar hypoplasia, type 9615809C4014354OMIM1392469102771
HP:0001257HP:0031957Spastic hemiparetic gait2AMPD2 CL E G H271615809Pontocerebellar hypoplasia, type 9615809C4014354OMIM1392469102771
HP:0001257HP:0031958Spastic paraparetic gait2AMPD2 CL E G H271615809Pontocerebellar hypoplasia, type 9615809C4014354OMIM1392469102771
HP:0001257HP:0002313Spastic paraparesis2ANG CL E G H283803ORPHA1114483105850
HP:0001257HP:0001258Spastic paraplegia2ANG CL E G H283803ORPHA1114483105850
HP:0001257HP:0002478Progressive spastic quadriplegia2ANG CL E G H283803ORPHA1114483105850
HP:0001257HP:0031957Spastic hemiparetic gait2ANG CL E G H283803ORPHA1114483105850
HP:0001257HP:0031958Spastic paraparetic gait2ANG CL E G H283803ORPHA1114483105850
HP:0001257HP:0002313Spastic paraparesis2ANG CL E G H283611895Amyotrophic lateral sclerosis type 9611895C2678468OMIM1114483105850
HP:0001257HP:0001258Spastic paraplegia2ANG CL E G H283611895Amyotrophic lateral sclerosis type 9611895C2678468OMIM1114483105850
HP:0001257HP:0002478Progressive spastic quadriplegia2ANG CL E G H283611895Amyotrophic lateral sclerosis type 9611895C2678468OMIM1114483105850
HP:0001257HP:0031957Spastic hemiparetic gait2ANG CL E G H283611895Amyotrophic lateral sclerosis type 9611895C2678468OMIM1114483105850
HP:0001257HP:0031958Spastic paraparetic gait2ANG CL E G H283611895Amyotrophic lateral sclerosis type 9611895C2678468OMIM1114483105850
HP:0001257HP:0002313Spastic paraparesis2ANK3 CL E G H288615493Mental retardation, autosomal recessive 37615493C3809672OMIM11073494600465
HP:0001257HP:0001258Spastic paraplegia2ANK3 CL E G H288615493Mental retardation, autosomal recessive 37615493C3809672OMIM11073494600465
HP:0001257HP:0002478Progressive spastic quadriplegia2ANK3 CL E G H288615493Mental retardation, autosomal recessive 37615493C3809672OMIM11073494600465
HP:0001257HP:0031957Spastic hemiparetic gait2ANK3 CL E G H288615493Mental retardation, autosomal recessive 37615493C3809672OMIM11073494600465
HP:0001257HP:0031958Spastic paraparetic gait2ANK3 CL E G H288615493Mental retardation, autosomal recessive 37615493C3809672OMIM11073494600465
HP:0001257HP:0002313Spastic paraparesis2ANXA11 CL E G H311803ORPHA1305535602572
HP:0001257HP:0001258Spastic paraplegia2ANXA11 CL E G H311803ORPHA1305535602572
HP:0001257HP:0002478Progressive spastic quadriplegia2ANXA11 CL E G H311803ORPHA1305535602572
HP:0001257HP:0031957Spastic hemiparetic gait2ANXA11 CL E G H311803ORPHA1305535602572
HP:0001257HP:0031958Spastic paraparetic gait2ANXA11 CL E G H311803ORPHA1305535602572
HP:0001257HP:0002313Spastic paraparesis2AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0001257HP:0001258Spastic paraplegia2AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0001257HP:0002478Progressive spastic quadriplegia2AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0001257HP:0031957Spastic hemiparetic gait2AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0001257HP:0031958Spastic paraparetic gait2AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0001257HP:0002313Spastic paraparesis2AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1403572607245
HP:0001257HP:0001258Spastic paraplegia2AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1403572607245
HP:0001257HP:0002478Progressive spastic quadriplegia2AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1403572607245
HP:0001257HP:0031957Spastic hemiparetic gait2AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1403572607245
HP:0001257HP:0031958Spastic paraparetic gait2AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1403572607245
HP:0001257HP:0002313Spastic paraparesis2AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1148575607243
HP:0001257HP:0001258Spastic paraplegia2AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1148575607243
HP:0001257HP:0002478Progressive spastic quadriplegia2AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1148575607243
HP:0001257HP:0031957Spastic hemiparetic gait2AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1148575607243
HP:0001257HP:0031958Spastic paraparetic gait2AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1148575607243
HP:0001257HP:0002313Spastic paraparesis2ARF1 CL E G H375618185PERIVENTRICULAR NODULAR HETEROTOPIA 8618185OMIM166652103180
HP:0001257HP:0001258Spastic paraplegia2ARF1 CL E G H375618185PERIVENTRICULAR NODULAR HETEROTOPIA 8618185OMIM166652103180
HP:0001257HP:0002478Progressive spastic quadriplegia2ARF1 CL E G H375618185PERIVENTRICULAR NODULAR HETEROTOPIA 8618185OMIM166652103180
HP:0001257HP:0031957Spastic hemiparetic gait2ARF1 CL E G H375618185PERIVENTRICULAR NODULAR HETEROTOPIA 8618185OMIM166652103180
HP:0001257HP:0031958Spastic paraparetic gait2ARF1 CL E G H375618185PERIVENTRICULAR NODULAR HETEROTOPIA 8618185OMIM166652103180
HP:0001257HP:0002313Spastic paraparesis2ARNT2 CL E G H9915615926Webb-Dattani syndrome615926C4014708OMIM119416876606036
HP:0001257HP:0001258Spastic paraplegia2ARNT2 CL E G H9915615926Webb-Dattani syndrome615926C4014708OMIM119416876606036
HP:0001257HP:0002478Progressive spastic quadriplegia2ARNT2 CL E G H9915615926Webb-Dattani syndrome615926C4014708OMIM119416876606036
HP:0001257HP:0031957Spastic hemiparetic gait2ARNT2 CL E G H9915615926Webb-Dattani syndrome615926C4014708OMIM119416876606036
HP:0001257HP:0031958Spastic paraparetic gait2ARNT2 CL E G H9915615926Webb-Dattani syndrome615926C4014708OMIM119416876606036
HP:0001257HP:0002313Spastic paraparesis2ARX CL E G H1703022508ORPHA181018060300382
HP:0001257HP:0001258Spastic paraplegia2ARX CL E G H1703022508ORPHA181018060300382
HP:0001257HP:0002478Progressive spastic quadriplegia2ARX CL E G H1703022508ORPHA181018060300382
HP:0001257HP:0031957Spastic hemiparetic gait2ARX CL E G H1703022508ORPHA181018060300382
HP:0001257HP:0031958Spastic paraparetic gait2ARX CL E G H1703022508ORPHA181018060300382
HP:0001257HP:0002313Spastic paraparesis2ARX CL E G H1703023175ORPHA181018060300382
HP:0001257HP:0001258Spastic paraplegia2ARX CL E G H1703023175ORPHA181018060300382
HP:0001257HP:0002478Progressive spastic quadriplegia2ARX CL E G H1703023175ORPHA181018060300382
HP:0001257HP:0031957Spastic hemiparetic gait2ARX CL E G H1703023175ORPHA181018060300382
HP:0001257HP:0031958Spastic paraparetic gait2ARX CL E G H1703023175ORPHA181018060300382
HP:0001257HP:0002313Spastic paraparesis2ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001257HP:0001258Spastic paraplegia2ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001257HP:0002478Progressive spastic quadriplegia2ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001257HP:0031957Spastic hemiparetic gait2ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001257HP:0031958Spastic paraparetic gait2ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001257HP:0002313Spastic paraparesis2ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM181018060300382
HP:0001257HP:0001258Spastic paraplegia2ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM181018060300382
HP:0001257HP:0002478Progressive spastic quadriplegia2ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM181018060300382
HP:0001257HP:0031957Spastic hemiparetic gait2ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM181018060300382
HP:0001257HP:0031958Spastic paraparetic gait2ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM181018060300382
HP:0001257HP:0002313Spastic paraparesis2ASPA CL E G H443314911ORPHA1388756608034
HP:0001257HP:0001258Spastic paraplegia2ASPA CL E G H443314911ORPHA1388756608034
HP:0001257HP:0002478Progressive spastic quadriplegia2ASPA CL E G H443314911ORPHA1388756608034
HP:0001257HP:0031957Spastic hemiparetic gait2ASPA CL E G H443314911ORPHA1388756608034
HP:0001257HP:0031958Spastic paraparetic gait2ASPA CL E G H443314911ORPHA1388756608034
HP:0001257HP:0002313Spastic paraparesis2ATAD1 CL E G H848963197Lateral body wall defectORPHA118325903614452
HP:0001257HP:0001258Spastic paraplegia2ATAD1 CL E G H848963197Lateral body wall defectORPHA118325903614452
HP:0001257HP:0002478Progressive spastic quadriplegia2ATAD1 CL E G H848963197Lateral body wall defectORPHA118325903614452
HP:0001257HP:0031957Spastic hemiparetic gait2ATAD1 CL E G H848963197Lateral body wall defectORPHA118325903614452
HP:0001257HP:0031958Spastic paraparetic gait2ATAD1 CL E G H848963197Lateral body wall defectORPHA118325903614452
HP:0001257HP:0002313Spastic paraparesis2ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM139925567612316
HP:0001257HP:0001258Spastic paraplegia2ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM139925567612316
HP:0001257HP:0002478Progressive spastic quadriplegia2ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM139925567612316
HP:0001257HP:0031957Spastic hemiparetic gait2ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM139925567612316
HP:0001257HP:0031958Spastic paraparetic gait2ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM139925567612316
HP:0001257HP:0002313Spastic paraparesis2ATM CL E G H472100ORPHA114692795607585
HP:0001257HP:0001258Spastic paraplegia2ATM CL E G H472100ORPHA114692795607585
HP:0001257HP:0002478Progressive spastic quadriplegia2ATM CL E G H472100ORPHA114692795607585
HP:0001257HP:0031957Spastic hemiparetic gait2ATM CL E G H472100ORPHA114692795607585
HP:0001257HP:0031958Spastic paraparetic gait2ATM CL E G H472100ORPHA114692795607585
HP:0001257HP:0002313Spastic paraparesis2ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM197430213610513
HP:0001257HP:0001258Spastic paraplegia2ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM197430213610513
HP:0001257HP:0002478Progressive spastic quadriplegia2ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM197430213610513
HP:0001257HP:0031957Spastic hemiparetic gait2ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM197430213610513
HP:0001257HP:0031958Spastic paraparetic gait2ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM197430213610513
HP:0001257HP:0002313Spastic paraparesis2ATP6V0A2 CL E G H23545357074ORPHA161018481611716
HP:0001257HP:0001258Spastic paraplegia2ATP6V0A2 CL E G H23545357074ORPHA161018481611716
HP:0001257HP:0002478Progressive spastic quadriplegia2ATP6V0A2 CL E G H23545357074ORPHA161018481611716
HP:0001257HP:0031957Spastic hemiparetic gait2ATP6V0A2 CL E G H23545357074ORPHA161018481611716
HP:0001257HP:0031958Spastic paraparetic gait2ATP6V0A2 CL E G H23545357074ORPHA161018481611716
HP:0001257HP:0002313Spastic paraparesis2ATP6V1A CL E G H523357074ORPHA1229851607027
HP:0001257HP:0001258Spastic paraplegia2ATP6V1A CL E G H523357074ORPHA1229851607027
HP:0001257HP:0002478Progressive spastic quadriplegia2ATP6V1A CL E G H523357074ORPHA1229851607027
HP:0001257HP:0031957Spastic hemiparetic gait2ATP6V1A CL E G H523357074ORPHA1229851607027
HP:0001257HP:0031958Spastic paraparetic gait2ATP6V1A CL E G H523357074ORPHA1229851607027
HP:0001257HP:0002313Spastic paraparesis2ATP6V1E1 CL E G H529357074ORPHA1196857108746
HP:0001257HP:0001258Spastic paraplegia2ATP6V1E1 CL E G H529357074ORPHA1196857108746
HP:0001257HP:0002478Progressive spastic quadriplegia2ATP6V1E1 CL E G H529357074ORPHA1196857108746
HP:0001257HP:0031957Spastic hemiparetic gait2ATP6V1E1 CL E G H529357074ORPHA1196857108746
HP:0001257HP:0031958Spastic paraparetic gait2ATP6V1E1 CL E G H529357074ORPHA1196857108746
HP:0001257HP:0002313Spastic paraparesis2ATP7A CL E G H538565ORPHA11751869300011
HP:0001257HP:0001258Spastic paraplegia2ATP7A CL E G H538565ORPHA11751869300011
HP:0001257HP:0002478Progressive spastic quadriplegia2ATP7A CL E G H538565ORPHA11751869300011
HP:0001257HP:0031957Spastic hemiparetic gait2ATP7A CL E G H538565ORPHA11751869300011
HP:0001257HP:0031958Spastic paraparetic gait2ATP7A CL E G H538565ORPHA11751869300011
HP:0001257HP:0002313Spastic paraparesis2ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11925886300032
HP:0001257HP:0001258Spastic paraplegia2ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11925886300032
HP:0001257HP:0002478Progressive spastic quadriplegia2ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11925886300032
HP:0001257HP:0031957Spastic hemiparetic gait2ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11925886300032
HP:0001257HP:0031958Spastic paraparetic gait2ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11925886300032
HP:0001257HP:0002313Spastic paraparesis2ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM112010548601556
HP:0001257HP:0001258Spastic paraplegia2ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM112010548601556
HP:0001257HP:0002478Progressive spastic quadriplegia2ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM112010548601556
HP:0001257HP:0031957Spastic hemiparetic gait2ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM112010548601556
HP:0001257HP:0031958Spastic paraparetic gait2ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM112010548601556
HP:0001257HP:0002313Spastic paraparesis2ATXN2 CL E G H6311803ORPHA111510555601517
HP:0001257HP:0001258Spastic paraplegia2ATXN2 CL E G H6311803ORPHA111510555601517
HP:0001257HP:0002478Progressive spastic quadriplegia2ATXN2 CL E G H6311803ORPHA111510555601517
HP:0001257HP:0031957Spastic hemiparetic gait2ATXN2 CL E G H6311803ORPHA111510555601517
HP:0001257HP:0031958Spastic paraparetic gait2ATXN2 CL E G H6311803ORPHA111510555601517
HP:0001257HP:0002313Spastic paraparesis2ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM111510555601517
HP:0001257HP:0001258Spastic paraplegia2ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM111510555601517
HP:0001257HP:0002478Progressive spastic quadriplegia2ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM111510555601517
HP:0001257HP:0031957Spastic hemiparetic gait2ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM111510555601517
HP:0001257HP:0031958Spastic paraparetic gait2ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM111510555601517
HP:0001257HP:0002313Spastic paraparesis2ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0001257HP:0001258Spastic paraplegia2ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0001257HP:0002478Progressive spastic quadriplegia2ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0001257HP:0031957Spastic hemiparetic gait2ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0001257HP:0031958Spastic paraparetic gait2ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0001257HP:0002313Spastic paraparesis2ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0001257HP:0001258Spastic paraplegia2ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0001257HP:0002478Progressive spastic quadriplegia2ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0001257HP:0031957Spastic hemiparetic gait2ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0001257HP:0031958Spastic paraparetic gait2ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0001257HP:0002313Spastic paraparesis2ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0001257HP:0001258Spastic paraplegia2ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0001257HP:0002478Progressive spastic quadriplegia2ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0001257HP:0031957Spastic hemiparetic gait2ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0001257HP:0031958Spastic paraparetic gait2ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0001257HP:0002313Spastic paraparesis2ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM19810560607640
HP:0001257HP:0001258Spastic paraplegia2ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM19810560607640
HP:0001257HP:0002478Progressive spastic quadriplegia2ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM19810560607640
HP:0001257HP:0031957Spastic hemiparetic gait2ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM19810560607640
HP:0001257HP:0031958Spastic paraparetic gait2ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM19810560607640
HP:0001257HP:0002313Spastic paraparesis2ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0001257HP:0001258Spastic paraplegia2ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0001257HP:0002478Progressive spastic quadriplegia2ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0001257HP:0031957Spastic hemiparetic gait2ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0001257HP:0031958Spastic paraparetic gait2ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0001257HP:0002313Spastic paraparesis2ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM18710561603680
HP:0001257HP:0001258Spastic paraplegia2ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM18710561603680
HP:0001257HP:0002478Progressive spastic quadriplegia2ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM18710561603680
HP:0001257HP:0031957Spastic hemiparetic gait2ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM18710561603680
HP:0001257HP:0031958Spastic paraparetic gait2ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM18710561603680
HP:0001257HP:0002313Spastic paraparesis2B4GAT1 CL E G H11041615287Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13615287C3809042OMIM120515685605517
HP:0001257HP:0001258Spastic paraplegia2B4GAT1 CL E G H11041615287Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13615287C3809042OMIM120515685605517
HP:0001257HP:0002478Progressive spastic quadriplegia2B4GAT1 CL E G H11041615287Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13615287C3809042OMIM120515685605517
HP:0001257HP:0031957Spastic hemiparetic gait2B4GAT1 CL E G H11041615287Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13615287C3809042OMIM120515685605517
HP:0001257HP:0031958Spastic paraparetic gait2B4GAT1 CL E G H11041615287Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13615287C3809042OMIM120515685605517
HP:0001257HP:0002313Spastic paraparesis2BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0001257HP:0001258Spastic paraplegia2BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0001257HP:0002478Progressive spastic quadriplegia2BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0001257HP:0031957Spastic hemiparetic gait2BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0001257HP:0031958Spastic paraparetic gait2BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0001257HP:0002313Spastic paraparesis2BCL11B CL E G H64919618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES618092CN253429OMIM152513222606558
HP:0001257HP:0001258Spastic paraplegia2BCL11B CL E G H64919618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES618092CN253429OMIM152513222606558
HP:0001257HP:0002478Progressive spastic quadriplegia2BCL11B CL E G H64919618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES618092CN253429OMIM152513222606558
HP:0001257HP:0031957Spastic hemiparetic gait2BCL11B CL E G H64919618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES618092CN253429OMIM152513222606558
HP:0001257HP:0031958Spastic paraparetic gait2BCL11B CL E G H64919618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES618092CN253429OMIM152513222606558
HP:0001257HP:0002313Spastic paraparesis2BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0001257HP:0001258Spastic paraplegia2BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0001257HP:0002478Progressive spastic quadriplegia2BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0001257HP:0031957Spastic hemiparetic gait2BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0001257HP:0031958Spastic paraparetic gait2BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0001257HP:0002313Spastic paraparesis2BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM14131020603647
HP:0001257HP:0001258Spastic paraplegia2BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM14131020603647
HP:0001257HP:0002478Progressive spastic quadriplegia2BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM14131020603647
HP:0001257HP:0031957Spastic hemiparetic gait2BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM14131020603647
HP:0001257HP:0031958Spastic paraparetic gait2BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM14131020603647
HP:0001257HP:0002313Spastic paraparesis2BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM110224415613183
HP:0001257HP:0001258Spastic paraplegia2BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM110224415613183
HP:0001257HP:0002478Progressive spastic quadriplegia2BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM110224415613183
HP:0001257HP:0031957Spastic hemiparetic gait2BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM110224415613183
HP:0001257HP:0031958Spastic paraparetic gait2BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM110224415613183
HP:0001257HP:0002313Spastic paraparesis2BSCL2 CL E G H26580363400ORPHA151015832606158
HP:0001257HP:0001258Spastic paraplegia2BSCL2 CL E G H26580363400ORPHA151015832606158
HP:0001257HP:0002478Progressive spastic quadriplegia2BSCL2 CL E G H26580363400ORPHA151015832606158
HP:0001257HP:0031957Spastic hemiparetic gait2BSCL2 CL E G H26580363400ORPHA151015832606158
HP:0001257HP:0031958Spastic paraparetic gait2BSCL2 CL E G H26580363400ORPHA151015832606158
HP:0001257HP:0002313Spastic paraparesis2BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001257HP:0001258Spastic paraplegia2BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001257HP:0002478Progressive spastic quadriplegia2BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001257HP:0031957Spastic hemiparetic gait2BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001257HP:0031958Spastic paraparetic gait2BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001257HP:0002313Spastic paraparesis2C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM130725443614297
HP:0001257HP:0001258Spastic paraplegia2C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM130725443614297
HP:0001257HP:0002478Progressive spastic quadriplegia2C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM130725443614297
HP:0001257HP:0031957Spastic hemiparetic gait2C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM130725443614297
HP:0001257HP:0031958Spastic paraparetic gait2C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM130725443614297
HP:0001257HP:0002313Spastic paraparesis2C19orf12 CL E G H83636615043Spastic paraplegia 43, autosomal recessive615043C2680446OMIM130725443614297
HP:0001257HP:0001258Spastic paraplegia2C19orf12 CL E G H83636615043Spastic paraplegia 43, autosomal recessive615043C2680446OMIM130725443614297
HP:0001257HP:0002478Progressive spastic quadriplegia2C19orf12 CL E G H83636615043Spastic paraplegia 43, autosomal recessive615043C2680446OMIM130725443614297
HP:0001257HP:0031957Spastic hemiparetic gait2C19orf12 CL E G H83636615043Spastic paraplegia 43, autosomal recessive615043C2680446OMIM130725443614297
HP:0001257HP:0031958Spastic paraparetic gait2C19orf12 CL E G H83636615043Spastic paraplegia 43, autosomal recessive615043C2680446OMIM130725443614297
HP:0001257HP:0002313Spastic paraparesis2C9orf72 CL E G H203228803ORPHA117728337614260
HP:0001257HP:0001258Spastic paraplegia2C9orf72 CL E G H203228803ORPHA117728337614260
HP:0001257HP:0002478Progressive spastic quadriplegia2C9orf72 CL E G H203228803ORPHA117728337614260
HP:0001257HP:0031957Spastic hemiparetic gait2C9orf72 CL E G H203228803ORPHA117728337614260
HP:0001257HP:0031958Spastic paraparetic gait2C9orf72 CL E G H203228803ORPHA117728337614260
HP:0001257HP:0002313Spastic paraparesis2CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM18221394604065
HP:0001257HP:0001258Spastic paraplegia2CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM18221394604065
HP:0001257HP:0002478Progressive spastic quadriplegia2CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM18221394604065
HP:0001257HP:0031957Spastic hemiparetic gait2CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM18221394604065
HP:0001257HP:0031958Spastic paraparetic gait2CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM18221394604065
HP:0001257HP:0002313Spastic paraparesis2CAMK2A CL E G H815618095MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63618095CN253430OMIM11161460114078
HP:0001257HP:0001258Spastic paraplegia2CAMK2A CL E G H815618095MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63618095CN253430OMIM11161460114078
HP:0001257HP:0002478Progressive spastic quadriplegia2CAMK2A CL E G H815618095MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63618095CN253430OMIM11161460114078
HP:0001257HP:0031957Spastic hemiparetic gait2CAMK2A CL E G H815618095MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63618095CN253430OMIM11161460114078
HP:0001257HP:0031958Spastic paraparetic gait2CAMK2A CL E G H815618095MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63618095CN253430OMIM11161460114078
HP:0001257HP:0002313Spastic paraparesis2CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM18441497300172
HP:0001257HP:0001258Spastic paraplegia2CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM18441497300172
HP:0001257HP:0002478Progressive spastic quadriplegia2CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM18441497300172
HP:0001257HP:0031957Spastic hemiparetic gait2CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM18441497300172
HP:0001257HP:0031958Spastic paraparetic gait2CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM18441497300172
HP:0001257HP:0002313Spastic paraparesis2CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1152529253612013
HP:0001257HP:0001258Spastic paraplegia2CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1152529253612013
HP:0001257HP:0002478Progressive spastic quadriplegia2CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1152529253612013
HP:0001257HP:0031957Spastic hemiparetic gait2CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1152529253612013
HP:0001257HP:0031958Spastic paraparetic gait2CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1152529253612013
HP:0001257HP:0002313Spastic paraparesis2CCNF CL E G H899803ORPHA11511591600227
HP:0001257HP:0001258Spastic paraplegia2CCNF CL E G H899803ORPHA11511591600227
HP:0001257HP:0002478Progressive spastic quadriplegia2CCNF CL E G H899803ORPHA11511591600227
HP:0001257HP:0031957Spastic hemiparetic gait2CCNF CL E G H899803ORPHA11511591600227
HP:0001257HP:0031958Spastic paraparetic gait2CCNF CL E G H899803ORPHA11511591600227
HP:0001257HP:0002313Spastic paraparesis2CDKL5 CL E G H67923095ORPHA1173811411300203
HP:0001257HP:0001258Spastic paraplegia2CDKL5 CL E G H67923095ORPHA1173811411300203
HP:0001257HP:0002478Progressive spastic quadriplegia2CDKL5 CL E G H67923095ORPHA1173811411300203
HP:0001257HP:0031957Spastic hemiparetic gait2CDKL5 CL E G H67923095ORPHA1173811411300203
HP:0001257HP:0031958Spastic paraparetic gait2CDKL5 CL E G H67923095ORPHA1173811411300203
HP:0001257HP:0002313Spastic paraparesis2CFAP410 CL E G H755803ORPHA14591260603191
HP:0001257HP:0001258Spastic paraplegia2CFAP410 CL E G H755803ORPHA14591260603191
HP:0001257HP:0002478Progressive spastic quadriplegia2CFAP410 CL E G H755803ORPHA14591260603191
HP:0001257HP:0031957Spastic hemiparetic gait2CFAP410 CL E G H755803ORPHA14591260603191
HP:0001257HP:0031958Spastic paraparetic gait2CFAP410 CL E G H755803ORPHA14591260603191
HP:0001257HP:0002313Spastic paraparesis2CHCHD10 CL E G H400916803ORPHA129715559615903
HP:0001257HP:0001258Spastic paraplegia2CHCHD10 CL E G H400916803ORPHA129715559615903
HP:0001257HP:0002478Progressive spastic quadriplegia2CHCHD10 CL E G H400916803ORPHA129715559615903
HP:0001257HP:0031957Spastic hemiparetic gait2CHCHD10 CL E G H400916803ORPHA129715559615903
HP:0001257HP:0031958Spastic paraparetic gait2CHCHD10 CL E G H400916803ORPHA129715559615903
HP:0001257HP:0002313Spastic paraparesis2CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM12488740164010
HP:0001257HP:0001258Spastic paraplegia2CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM12488740164010
HP:0001257HP:0002478Progressive spastic quadriplegia2CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM12488740164010
HP:0001257HP:0031957Spastic hemiparetic gait2CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM12488740164010
HP:0001257HP:0031958Spastic paraparetic gait2CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM12488740164010
HP:0001257HP:0002313Spastic paraparesis2CHMP2B CL E G H25978803ORPHA116024537609512
HP:0001257HP:0001258Spastic paraplegia2CHMP2B CL E G H25978803ORPHA116024537609512
HP:0001257HP:0002478Progressive spastic quadriplegia2CHMP2B CL E G H25978803ORPHA116024537609512
HP:0001257HP:0031957Spastic hemiparetic gait2CHMP2B CL E G H25978803ORPHA116024537609512
HP:0001257HP:0031958Spastic paraparetic gait2CHMP2B CL E G H25978803ORPHA116024537609512
HP:0001257HP:0002313Spastic paraparesis2CIT CL E G H11113617090Microcephaly 17, primary, autosomal recessive617090C4310723OMIM15141985605629
HP:0001257HP:0001258Spastic paraplegia2CIT CL E G H11113617090Microcephaly 17, primary, autosomal recessive617090C4310723OMIM15141985605629
HP:0001257HP:0002478Progressive spastic quadriplegia2CIT CL E G H11113617090Microcephaly 17, primary, autosomal recessive617090C4310723OMIM15141985605629
HP:0001257HP:0031957Spastic hemiparetic gait2CIT CL E G H11113617090Microcephaly 17, primary, autosomal recessive617090C4310723OMIM15141985605629
HP:0001257HP:0031958Spastic paraparetic gait2CIT CL E G H11113617090Microcephaly 17, primary, autosomal recessive617090C4310723OMIM15141985605629
HP:0001257HP:0002313Spastic paraparesis2CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA116826877616174
HP:0001257HP:0001258Spastic paraplegia2CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA116826877616174
HP:0001257HP:0002478Progressive spastic quadriplegia2CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA116826877616174
HP:0001257HP:0031957Spastic hemiparetic gait2CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA116826877616174
HP:0001257HP:0031958Spastic paraparetic gait2CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA116826877616174
HP:0001257HP:0002313Spastic paraparesis2CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0001257HP:0001258Spastic paraplegia2CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0001257HP:0002478Progressive spastic quadriplegia2CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0001257HP:0031957Spastic hemiparetic gait2CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0001257HP:0031958Spastic paraparetic gait2CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0001257HP:0002313Spastic paraparesis2CLP1 CL E G H10978411493ORPHA19716999608757
HP:0001257HP:0001258Spastic paraplegia2CLP1 CL E G H10978411493ORPHA19716999608757
HP:0001257HP:0002478Progressive spastic quadriplegia2CLP1 CL E G H10978411493ORPHA19716999608757
HP:0001257HP:0031957Spastic hemiparetic gait2CLP1 CL E G H10978411493ORPHA19716999608757
HP:0001257HP:0031958Spastic paraparetic gait2CLP1 CL E G H10978411493ORPHA19716999608757
HP:0001257HP:0002313Spastic paraparesis2CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM19716999608757
HP:0001257HP:0001258Spastic paraplegia2CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM19716999608757
HP:0001257HP:0002478Progressive spastic quadriplegia2CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM19716999608757
HP:0001257HP:0031957Spastic hemiparetic gait2CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM19716999608757
HP:0001257HP:0031958Spastic paraparetic gait2CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM19716999608757
HP:0001257HP:0002313Spastic paraparesis2CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM158530664616254
HP:0001257HP:0001258Spastic paraplegia2CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM158530664616254
HP:0001257HP:0002478Progressive spastic quadriplegia2CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM158530664616254
HP:0001257HP:0031957Spastic hemiparetic gait2CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM158530664616254
HP:0001257HP:0031958Spastic paraparetic gait2CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM158530664616254
HP:0001257HP:0002313Spastic paraparesis2CLTC CL E G H1213617854MENTAL RETARDATION, AUTOSOMAL DOMINANT 56617854CN787270OMIM16452092118955
HP:0001257HP:0001258Spastic paraplegia2CLTC CL E G H1213617854MENTAL RETARDATION, AUTOSOMAL DOMINANT 56617854CN787270OMIM16452092118955
HP:0001257HP:0002478Progressive spastic quadriplegia2CLTC CL E G H1213617854MENTAL RETARDATION, AUTOSOMAL DOMINANT 56617854CN787270OMIM16452092118955
HP:0001257HP:0031957Spastic hemiparetic gait2CLTC CL E G H1213617854MENTAL RETARDATION, AUTOSOMAL DOMINANT 56617854CN787270OMIM16452092118955
HP:0001257HP:0031958Spastic paraparetic gait2CLTC CL E G H1213617854MENTAL RETARDATION, AUTOSOMAL DOMINANT 56617854CN787270OMIM16452092118955
HP:0001257HP:0002313Spastic paraparesis2CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM14258011602346
HP:0001257HP:0001258Spastic paraplegia2CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM14258011602346
HP:0001257HP:0002478Progressive spastic quadriplegia2CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM14258011602346
HP:0001257HP:0031957Spastic hemiparetic gait2CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM14258011602346
HP:0001257HP:0031958Spastic paraparetic gait2CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM14258011602346
HP:0001257HP:0002313Spastic paraparesis2CNTNAP2 CL E G H26047610042Pitt-Hopkins-like syndrome 1610042C2750246OMIM1186713830604569
HP:0001257HP:0001258Spastic paraplegia2CNTNAP2 CL E G H26047610042Pitt-Hopkins-like syndrome 1610042C2750246OMIM1186713830604569
HP:0001257HP:0002478Progressive spastic quadriplegia2CNTNAP2 CL E G H26047610042Pitt-Hopkins-like syndrome 1610042C2750246OMIM1186713830604569
HP:0001257HP:0031957Spastic hemiparetic gait2CNTNAP2 CL E G H26047610042Pitt-Hopkins-like syndrome 1610042C2750246OMIM1186713830604569
HP:0001257HP:0031958Spastic paraparetic gait2CNTNAP2 CL E G H26047610042Pitt-Hopkins-like syndrome 1610042C2750246OMIM1186713830604569
HP:0001257HP:0002313Spastic paraparesis2COL4A1 CL E G H1282175780Porencephaly 1175780CN032791OMIM117852202120130
HP:0001257HP:0001258Spastic paraplegia2COL4A1 CL E G H1282175780Porencephaly 1175780CN032791OMIM117852202120130
HP:0001257HP:0002478Progressive spastic quadriplegia2COL4A1 CL E G H1282175780Porencephaly 1175780CN032791OMIM117852202120130
HP:0001257HP:0031957Spastic hemiparetic gait2COL4A1 CL E G H1282175780Porencephaly 1175780CN032791OMIM117852202120130
HP:0001257HP:0031958Spastic paraparetic gait2COL4A1 CL E G H1282175780Porencephaly 1175780CN032791OMIM117852202120130
HP:0001257HP:0002313Spastic paraparesis2COL4A2 CL E G H1284614483Porencephaly 2614483C3280970OMIM113712203120090
HP:0001257HP:0001258Spastic paraplegia2COL4A2 CL E G H1284614483Porencephaly 2614483C3280970OMIM113712203120090
HP:0001257HP:0002478Progressive spastic quadriplegia2COL4A2 CL E G H1284614483Porencephaly 2614483C3280970OMIM113712203120090
HP:0001257HP:0031957Spastic hemiparetic gait2COL4A2 CL E G H1284614483Porencephaly 2614483C3280970OMIM113712203120090
HP:0001257HP:0031958Spastic paraparetic gait2COL4A2 CL E G H1284614483Porencephaly 2614483C3280970OMIM113712203120090
HP:0001257HP:0002313Spastic paraparesis2COPB2 CL E G H9276617800MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE617800C4540488OMIM1992232606990
HP:0001257HP:0001258Spastic paraplegia2COPB2 CL E G H9276617800MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE617800C4540488OMIM1992232606990
HP:0001257HP:0002478Progressive spastic quadriplegia2COPB2 CL E G H9276617800MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE617800C4540488OMIM1992232606990
HP:0001257HP:0031957Spastic hemiparetic gait2COPB2 CL E G H9276617800MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE617800C4540488OMIM1992232606990
HP:0001257HP:0031958Spastic paraparetic gait2COPB2 CL E G H9276617800MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE617800C4540488OMIM1992232606990
HP:0001257HP:0002313Spastic paraparesis2COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0001257HP:0001258Spastic paraplegia2COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0001257HP:0002478Progressive spastic quadriplegia2COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0001257HP:0031957Spastic hemiparetic gait2COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0001257HP:0031958Spastic paraparetic gait2COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0001257HP:0002313Spastic paraparesis2COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0001257HP:0001258Spastic paraplegia2COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0001257HP:0002478Progressive spastic quadriplegia2COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0001257HP:0031957Spastic hemiparetic gait2COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0001257HP:0031958Spastic paraparetic gait2COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0001257HP:0002313Spastic paraparesis2CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM16962433164770
HP:0001257HP:0001258Spastic paraplegia2CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM16962433164770
HP:0001257HP:0002478Progressive spastic quadriplegia2CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM16962433164770
HP:0001257HP:0031957Spastic hemiparetic gait2CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM16962433164770
HP:0001257HP:0031958Spastic paraparetic gait2CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM16962433164770
HP:0001257HP:0002313Spastic paraparesis2CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0001257HP:0001258Spastic paraplegia2CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0001257HP:0002478Progressive spastic quadriplegia2CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0001257HP:0031957Spastic hemiparetic gait2CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0001257HP:0031958Spastic paraparetic gait2CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0001257HP:0002313Spastic paraparesis2CTSD CL E G H1509610127Ceroid lipofuscinosis neuronal 10610127C1864669OMIM16692529116840
HP:0001257HP:0001258Spastic paraplegia2CTSD CL E G H1509610127Ceroid lipofuscinosis neuronal 10610127C1864669OMIM16692529116840
HP:0001257HP:0002478Progressive spastic quadriplegia2CTSD CL E G H1509610127Ceroid lipofuscinosis neuronal 10610127C1864669OMIM16692529116840
HP:0001257HP:0031957Spastic hemiparetic gait2CTSD CL E G H1509610127Ceroid lipofuscinosis neuronal 10610127C1864669OMIM16692529116840
HP:0001257HP:0031958Spastic paraparetic gait2CTSD CL E G H1509610127Ceroid lipofuscinosis neuronal 10610127C1864669OMIM16692529116840
HP:0001257HP:0002313Spastic paraparesis2CYFIP2 CL E G H26999618008EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65618008CN248516OMIM166813760606323
HP:0001257HP:0001258Spastic paraplegia2CYFIP2 CL E G H26999618008EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65618008CN248516OMIM166813760606323
HP:0001257HP:0002478Progressive spastic quadriplegia2CYFIP2 CL E G H26999618008EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65618008CN248516OMIM166813760606323
HP:0001257HP:0031957Spastic hemiparetic gait2CYFIP2 CL E G H26999618008EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65618008CN248516OMIM166813760606323
HP:0001257HP:0031958Spastic paraparetic gait2CYFIP2 CL E G H26999618008EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65618008CN248516OMIM166813760606323
HP:0001257HP:0002313Spastic paraparesis2CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0001257HP:0001258Spastic paraplegia2CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0001257HP:0002478Progressive spastic quadriplegia2CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0001257HP:0031957Spastic hemiparetic gait2CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0001257HP:0031958Spastic paraparetic gait2CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0001257HP:0002313Spastic paraparesis2CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM19402605606530
HP:0001257HP:0001258Spastic paraplegia2CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM19402605606530
HP:0001257HP:0002478Progressive spastic quadriplegia2CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM19402605606530
HP:0001257HP:0031957Spastic hemiparetic gait2CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM19402605606530
HP:0001257HP:0031958Spastic paraparetic gait2CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM19402605606530
HP:0001257HP:0002313Spastic paraparesis2DAO CL E G H1610803ORPHA1652671124050
HP:0001257HP:0001258Spastic paraplegia2DAO CL E G H1610803ORPHA1652671124050
HP:0001257HP:0002478Progressive spastic quadriplegia2DAO CL E G H1610803ORPHA1652671124050
HP:0001257HP:0031957Spastic hemiparetic gait2DAO CL E G H1610803ORPHA1652671124050
HP:0001257HP:0031958Spastic paraparetic gait2DAO CL E G H1610803ORPHA1652671124050
HP:0001257HP:0002313Spastic paraparesis2DARS CL E G H1615615281Hypomyelination with brainstem and spinal cord involvement and leg spasticity615281C3809008OMIM12678603084
HP:0001257HP:0001258Spastic paraplegia2DARS CL E G H1615615281Hypomyelination with brainstem and spinal cord involvement and leg spasticity615281C3809008OMIM12678603084
HP:0001257HP:0002478Progressive spastic quadriplegia2DARS CL E G H1615615281Hypomyelination with brainstem and spinal cord involvement and leg spasticity615281C3809008OMIM12678603084
HP:0001257HP:0031957Spastic hemiparetic gait2DARS CL E G H1615615281Hypomyelination with brainstem and spinal cord involvement and leg spasticity615281C3809008OMIM12678603084
HP:0001257HP:0031958Spastic paraparetic gait2DARS CL E G H1615615281Hypomyelination with brainstem and spinal cord involvement and leg spasticity615281C3809008OMIM12678603084
HP:0001257HP:0002313Spastic paraparesis2DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM139725538610956
HP:0001257HP:0001258Spastic paraplegia2DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM139725538610956
HP:0001257HP:0002478Progressive spastic quadriplegia2DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM139725538610956
HP:0001257HP:0031957Spastic hemiparetic gait2DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM139725538610956
HP:0001257HP:0031958Spastic paraparetic gait2DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM139725538610956
HP:0001257HP:0002313Spastic paraparesis2DCTN1 CL E G H1639803ORPHA110842711601143
HP:0001257HP:0001258Spastic paraplegia2DCTN1 CL E G H1639803ORPHA110842711601143
HP:0001257HP:0002478Progressive spastic quadriplegia2DCTN1 CL E G H1639803ORPHA110842711601143
HP:0001257HP:0031957Spastic hemiparetic gait2DCTN1 CL E G H1639803ORPHA110842711601143
HP:0001257HP:0031958Spastic paraparetic gait2DCTN1 CL E G H1639803ORPHA110842711601143
HP:0001257HP:0002313Spastic paraparesis2DCX CL E G H1641300067Lissencephaly, X-linked300067C1848199OMIM14232714300121
HP:0001257HP:0001258Spastic paraplegia2DCX CL E G H1641300067Lissencephaly, X-linked300067C1848199OMIM14232714300121
HP:0001257HP:0002478Progressive spastic quadriplegia2DCX CL E G H1641300067Lissencephaly, X-linked300067C1848199OMIM14232714300121
HP:0001257HP:0031957Spastic hemiparetic gait2DCX CL E G H1641300067Lissencephaly, X-linked300067C1848199OMIM14232714300121
HP:0001257HP:0031958Spastic paraparetic gait2DCX CL E G H1641300067Lissencephaly, X-linked300067C1848199OMIM14232714300121
HP:0001257HP:0002313Spastic paraparesis2DDX3X CL E G H1654457260ORPHA17452745300160
HP:0001257HP:0001258Spastic paraplegia2DDX3X CL E G H1654457260ORPHA17452745300160
HP:0001257HP:0002478Progressive spastic quadriplegia2DDX3X CL E G H1654457260ORPHA17452745300160
HP:0001257HP:0031957Spastic hemiparetic gait2DDX3X CL E G H1654457260ORPHA17452745300160
HP:0001257HP:0031958Spastic paraparetic gait2DDX3X CL E G H1654457260ORPHA17452745300160
HP:0001257HP:0002313Spastic paraparesis2DENND5A CL E G H23258617281Epileptic encephalopathy, early infantile, 49617281C4310635OMIM146319344617278
HP:0001257HP:0001258Spastic paraplegia2DENND5A CL E G H23258617281Epileptic encephalopathy, early infantile, 49617281C4310635OMIM146319344617278
HP:0001257HP:0002478Progressive spastic quadriplegia2DENND5A CL E G H23258617281Epileptic encephalopathy, early infantile, 49617281C4310635OMIM146319344617278
HP:0001257HP:0031957Spastic hemiparetic gait2DENND5A CL E G H23258617281Epileptic encephalopathy, early infantile, 49617281C4310635OMIM146319344617278
HP:0001257HP:0031958Spastic paraparetic gait2DENND5A CL E G H23258617281Epileptic encephalopathy, early infantile, 49617281C4310635OMIM146319344617278
HP:0001257HP:0002313Spastic paraparesis2DHCR24 CL E G H171835107ORPHA12912859606418
HP:0001257HP:0001258Spastic paraplegia2DHCR24 CL E G H171835107ORPHA12912859606418
HP:0001257HP:0002478Progressive spastic quadriplegia2DHCR24 CL E G H171835107ORPHA12912859606418
HP:0001257HP:0031957Spastic hemiparetic gait2DHCR24 CL E G H171835107ORPHA12912859606418
HP:0001257HP:0031958Spastic paraparetic gait2DHCR24 CL E G H171835107ORPHA12912859606418
HP:0001257HP:0002313Spastic paraparesis2DHCR24 CL E G H1718602398Desmosterolosis602398C1865596OMIM12912859606418
HP:0001257HP:0001258Spastic paraplegia2DHCR24 CL E G H1718602398Desmosterolosis602398C1865596OMIM12912859606418
HP:0001257HP:0002478Progressive spastic quadriplegia2DHCR24 CL E G H1718602398Desmosterolosis602398C1865596OMIM12912859606418
HP:0001257HP:0031957Spastic hemiparetic gait2DHCR24 CL E G H1718602398Desmosterolosis602398C1865596OMIM12912859606418
HP:0001257HP:0031958Spastic paraparetic gait2DHCR24 CL E G H1718602398Desmosterolosis602398C1865596OMIM12912859606418
HP:0001257HP:0002313Spastic paraparesis2DHDDS CL E G H79947613861Retinitis pigmentosa 59613861C3151227OMIM143420603608172
HP:0001257HP:0001258Spastic paraplegia2DHDDS CL E G H79947613861Retinitis pigmentosa 59613861C3151227OMIM143420603608172
HP:0001257HP:0002478Progressive spastic quadriplegia2DHDDS CL E G H79947613861Retinitis pigmentosa 59613861C3151227OMIM143420603608172
HP:0001257HP:0031957Spastic hemiparetic gait2DHDDS CL E G H79947613861Retinitis pigmentosa 59613861C3151227OMIM143420603608172
HP:0001257HP:0031958Spastic paraparetic gait2DHDDS CL E G H79947613861Retinitis pigmentosa 59613861C3151227OMIM143420603608172
HP:0001257HP:0002313Spastic paraparesis2DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA15202898238331
HP:0001257HP:0001258Spastic paraplegia2DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA15202898238331
HP:0001257HP:0002478Progressive spastic quadriplegia2DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA15202898238331
HP:0001257HP:0031957Spastic hemiparetic gait2DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA15202898238331
HP:0001257HP:0031958Spastic paraparetic gait2DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA15202898238331
HP:0001257HP:0002313Spastic paraparesis2DNAJC6 CL E G H9829615528Parkinson disease 19a, juvenile-onset615528C3809811OMIM131015469608375
HP:0001257HP:0001258Spastic paraplegia2DNAJC6 CL E G H9829615528Parkinson disease 19a, juvenile-onset615528C3809811OMIM131015469608375
HP:0001257HP:0002478Progressive spastic quadriplegia2DNAJC6 CL E G H9829615528Parkinson disease 19a, juvenile-onset615528C3809811OMIM131015469608375
HP:0001257HP:0031957Spastic hemiparetic gait2DNAJC6 CL E G H9829615528Parkinson disease 19a, juvenile-onset615528C3809811OMIM131015469608375
HP:0001257HP:0031958Spastic paraparetic gait2DNAJC6 CL E G H9829615528Parkinson disease 19a, juvenile-onset615528C3809811OMIM131015469608375
HP:0001257HP:0002313Spastic paraparesis2DNMT1 CL E G H1786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant604121C1858804OMIM111962976126375
HP:0001257HP:0001258Spastic paraplegia2DNMT1 CL E G H1786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant604121C1858804OMIM111962976126375
HP:0001257HP:0002478Progressive spastic quadriplegia2DNMT1 CL E G H1786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant604121C1858804OMIM111962976126375
HP:0001257HP:0031957Spastic hemiparetic gait2DNMT1 CL E G H1786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant604121C1858804OMIM111962976126375
HP:0001257HP:0031958Spastic paraparetic gait2DNMT1 CL E G H1786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant604121C1858804OMIM111962976126375
HP:0001257HP:0002313Spastic paraparesis2ECHS1 CL E G H1892616277Mitochondrial short-chain enoyl-coa hydratase 1 deficiency616277C4225391OMIM14313151602292
HP:0001257HP:0001258Spastic paraplegia2ECHS1 CL E G H1892616277Mitochondrial short-chain enoyl-coa hydratase 1 deficiency616277C4225391OMIM14313151602292
HP:0001257HP:0002478Progressive spastic quadriplegia2ECHS1 CL E G H1892616277Mitochondrial short-chain enoyl-coa hydratase 1 deficiency616277C4225391OMIM14313151602292
HP:0001257HP:0031957Spastic hemiparetic gait2ECHS1 CL E G H1892616277Mitochondrial short-chain enoyl-coa hydratase 1 deficiency616277C4225391OMIM14313151602292
HP:0001257HP:0031958Spastic paraparetic gait2ECHS1 CL E G H1892616277Mitochondrial short-chain enoyl-coa hydratase 1 deficiency616277C4225391OMIM14313151602292
HP:0001257HP:0002313Spastic paraparesis2EED CL E G H87263447ORPHA11293188605984
HP:0001257HP:0001258Spastic paraplegia2EED CL E G H87263447ORPHA11293188605984
HP:0001257HP:0002478Progressive spastic quadriplegia2EED CL E G H87263447ORPHA11293188605984
HP:0001257HP:0031957Spastic hemiparetic gait2EED CL E G H87263447ORPHA11293188605984
HP:0001257HP:0031958Spastic paraparetic gait2EED CL E G H87263447ORPHA11293188605984
HP:0001257HP:0002313Spastic paraparesis2EIF2B1 CL E G H1967603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11923257606686
HP:0001257HP:0001258Spastic paraplegia2EIF2B1 CL E G H1967603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11923257606686
HP:0001257HP:0002478Progressive spastic quadriplegia2EIF2B1 CL E G H1967603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11923257606686
HP:0001257HP:0031957Spastic hemiparetic gait2EIF2B1 CL E G H1967603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11923257606686
HP:0001257HP:0031958Spastic paraparetic gait2EIF2B1 CL E G H1967603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11923257606686
HP:0001257HP:0002313Spastic paraparesis2EIF2B2 CL E G H8892603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11903258606454
HP:0001257HP:0001258Spastic paraplegia2EIF2B2 CL E G H8892603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11903258606454
HP:0001257HP:0002478Progressive spastic quadriplegia2EIF2B2 CL E G H8892603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11903258606454
HP:0001257HP:0031957Spastic hemiparetic gait2EIF2B2 CL E G H8892603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11903258606454
HP:0001257HP:0031958Spastic paraparetic gait2EIF2B2 CL E G H8892603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11903258606454
HP:0001257HP:0002313Spastic paraparesis2EIF2B3 CL E G H8891603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11813259606273
HP:0001257HP:0001258Spastic paraplegia2EIF2B3 CL E G H8891603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11813259606273
HP:0001257HP:0002478Progressive spastic quadriplegia2EIF2B3 CL E G H8891603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11813259606273
HP:0001257HP:0031957Spastic hemiparetic gait2EIF2B3 CL E G H8891603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11813259606273
HP:0001257HP:0031958Spastic paraparetic gait2EIF2B3 CL E G H8891603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11813259606273
HP:0001257HP:0002313Spastic paraparesis2EIF2B4 CL E G H8890603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM12333260606687
HP:0001257HP:0001258Spastic paraplegia2EIF2B4 CL E G H8890603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM12333260606687
HP:0001257HP:0002478Progressive spastic quadriplegia2EIF2B4 CL E G H8890603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM12333260606687
HP:0001257HP:0031957Spastic hemiparetic gait2EIF2B4 CL E G H8890603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM12333260606687
HP:0001257HP:0031958Spastic paraparetic gait2EIF2B4 CL E G H8890603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM12333260606687
HP:0001257HP:0002313Spastic paraparesis2EIF2B5 CL E G H8893603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM15793261603945
HP:0001257HP:0001258Spastic paraplegia2EIF2B5 CL E G H8893603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM15793261603945
HP:0001257HP:0002478Progressive spastic quadriplegia2EIF2B5 CL E G H8893603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM15793261603945
HP:0001257HP:0031957Spastic hemiparetic gait2EIF2B5 CL E G H8893603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM15793261603945
HP:0001257HP:0031958Spastic paraparetic gait2EIF2B5 CL E G H8893603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM15793261603945
HP:0001257HP:0002313Spastic paraparesis2ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0001257HP:0001258Spastic paraplegia2ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0001257HP:0002478Progressive spastic quadriplegia2ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0001257HP:0031957Spastic hemiparetic gait2ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0001257HP:0031958Spastic paraparetic gait2ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0001257HP:0002313Spastic paraparesis2EML1 CL E G H2009600348Band heterotopia600348C1838239OMIM11703330602033
HP:0001257HP:0001258Spastic paraplegia2EML1 CL E G H2009600348Band heterotopia600348C1838239OMIM11703330602033
HP:0001257HP:0002478Progressive spastic quadriplegia2EML1 CL E G H2009600348Band heterotopia600348C1838239OMIM11703330602033
HP:0001257HP:0031957Spastic hemiparetic gait2EML1 CL E G H2009600348Band heterotopia600348C1838239OMIM11703330602033
HP:0001257HP:0031958Spastic paraparetic gait2EML1 CL E G H2009600348Band heterotopia600348C1838239OMIM11703330602033
HP:0001257HP:0002313Spastic paraparesis2ENTPD1 CL E G H953401810ORPHA11993363601752
HP:0001257HP:0001258Spastic paraplegia2ENTPD1 CL E G H953401810ORPHA11993363601752
HP:0001257HP:0002478Progressive spastic quadriplegia2ENTPD1 CL E G H953401810ORPHA11993363601752
HP:0001257HP:0031957Spastic hemiparetic gait2ENTPD1 CL E G H953401810ORPHA11993363601752
HP:0001257HP:0031958Spastic paraparetic gait2ENTPD1 CL E G H953401810ORPHA11993363601752
HP:0001257HP:0002313Spastic paraparesis2EPHA4 CL E G H2043803ORPHA11933388602188
HP:0001257HP:0001258Spastic paraplegia2EPHA4 CL E G H2043803ORPHA11933388602188
HP:0001257HP:0002478Progressive spastic quadriplegia2EPHA4 CL E G H2043803ORPHA11933388602188
HP:0001257HP:0031957Spastic hemiparetic gait2EPHA4 CL E G H2043803ORPHA11933388602188
HP:0001257HP:0031958Spastic paraparetic gait2EPHA4 CL E G H2043803ORPHA11933388602188
HP:0001257HP:0002313Spastic paraparesis2EPRS CL E G H2058617951LEUKODYSTROPHY, HYPOMYELINATING, 15617951CN244566OMIM13418138295
HP:0001257HP:0001258Spastic paraplegia2EPRS CL E G H2058617951LEUKODYSTROPHY, HYPOMYELINATING, 15617951CN244566OMIM13418138295
HP:0001257HP:0002478Progressive spastic quadriplegia2EPRS CL E G H2058617951LEUKODYSTROPHY, HYPOMYELINATING, 15617951CN244566OMIM13418138295
HP:0001257HP:0031957Spastic hemiparetic gait2EPRS CL E G H2058617951LEUKODYSTROPHY, HYPOMYELINATING, 15617951CN244566OMIM13418138295
HP:0001257HP:0031958Spastic paraparetic gait2EPRS CL E G H2058617951LEUKODYSTROPHY, HYPOMYELINATING, 15617951CN244566OMIM13418138295
HP:0001257HP:0002313Spastic paraparesis2ERBB4 CL E G H2066803ORPHA14623432600543
HP:0001257HP:0001258Spastic paraplegia2ERBB4 CL E G H2066803ORPHA14623432600543
HP:0001257HP:0002478Progressive spastic quadriplegia2ERBB4 CL E G H2066803ORPHA14623432600543
HP:0001257HP:0031957Spastic hemiparetic gait2ERBB4 CL E G H2066803ORPHA14623432600543
HP:0001257HP:0031958Spastic paraparetic gait2ERBB4 CL E G H2066803ORPHA14623432600543
HP:0001257HP:0002313Spastic paraparesis2ERCC2 CL E G H2068220295ORPHA115723434126340
HP:0001257HP:0001258Spastic paraplegia2ERCC2 CL E G H2068220295ORPHA115723434126340
HP:0001257HP:0002478Progressive spastic quadriplegia2ERCC2 CL E G H2068220295ORPHA115723434126340
HP:0001257HP:0031957Spastic hemiparetic gait2ERCC2 CL E G H2068220295ORPHA115723434126340
HP:0001257HP:0031958Spastic paraparetic gait2ERCC2 CL E G H2068220295ORPHA115723434126340
HP:0001257HP:0002313Spastic paraparesis2ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM115723434126340
HP:0001257HP:0001258Spastic paraplegia2ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM115723434126340
HP:0001257HP:0002478Progressive spastic quadriplegia2ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM115723434126340
HP:0001257HP:0031957Spastic hemiparetic gait2ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM115723434126340
HP:0001257HP:0031958Spastic paraparetic gait2ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM115723434126340
HP:0001257HP:0002313Spastic paraparesis2ERCC3 CL E G H2071220295ORPHA15233435133510
HP:0001257HP:0001258Spastic paraplegia2ERCC3 CL E G H2071220295ORPHA15233435133510
HP:0001257HP:0002478Progressive spastic quadriplegia2ERCC3 CL E G H2071220295ORPHA15233435133510
HP:0001257HP:0031957Spastic hemiparetic gait2ERCC3 CL E G H2071220295ORPHA15233435133510
HP:0001257HP:0031958Spastic paraparetic gait2ERCC3 CL E G H2071220295ORPHA15233435133510
HP:0001257HP:0002313Spastic paraparesis2ERCC4 CL E G H2072220295ORPHA17263436133520
HP:0001257HP:0001258Spastic paraplegia2ERCC4 CL E G H2072220295ORPHA17263436133520
HP:0001257HP:0002478Progressive spastic quadriplegia2ERCC4 CL E G H2072220295ORPHA17263436133520
HP:0001257HP:0031957Spastic hemiparetic gait2ERCC4 CL E G H2072220295ORPHA17263436133520
HP:0001257HP:0031958Spastic paraparetic gait2ERCC4 CL E G H2072220295ORPHA17263436133520
HP:0001257HP:0002313Spastic paraparesis2ERCC5 CL E G H2073220295ORPHA14913437133530
HP:0001257HP:0001258Spastic paraplegia2ERCC5 CL E G H2073220295ORPHA14913437133530
HP:0001257HP:0002478Progressive spastic quadriplegia2ERCC5 CL E G H2073220295ORPHA14913437133530
HP:0001257HP:0031957Spastic hemiparetic gait2ERCC5 CL E G H2073220295ORPHA14913437133530
HP:0001257HP:0031958Spastic paraparetic gait2ERCC5 CL E G H2073220295ORPHA14913437133530
HP:0001257HP:0002313Spastic paraparesis2ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM116453438609413
HP:0001257HP:0001258Spastic paraplegia2ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM116453438609413
HP:0001257HP:0002478Progressive spastic quadriplegia2ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM116453438609413
HP:0001257HP:0031957Spastic hemiparetic gait2ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM116453438609413
HP:0001257HP:0031958Spastic paraparetic gait2ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM116453438609413
HP:0001257HP:0002313Spastic paraparesis2ERLIN2 CL E G H11160209951ORPHA11911356611605
HP:0001257HP:0001258Spastic paraplegia2ERLIN2 CL E G H11160209951ORPHA11911356611605
HP:0001257HP:0002478Progressive spastic quadriplegia2ERLIN2 CL E G H11160209951ORPHA11911356611605
HP:0001257HP:0031957Spastic hemiparetic gait2ERLIN2 CL E G H11160209951ORPHA11911356611605
HP:0001257HP:0031958Spastic paraparetic gait2ERLIN2 CL E G H11160209951ORPHA11911356611605
HP:0001257HP:0002313Spastic paraparesis2EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM122717944606489
HP:0001257HP:0001258Spastic paraplegia2EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM122717944606489
HP:0001257HP:0002478Progressive spastic quadriplegia2EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM122717944606489
HP:0001257HP:0031957Spastic hemiparetic gait2EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM122717944606489
HP:0001257HP:0031958Spastic paraparetic gait2EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM122717944606489
HP:0001257HP:0002313Spastic paraparesis2EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM12609137606180
HP:0001257HP:0001258Spastic paraplegia2EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM12609137606180
HP:0001257HP:0002478Progressive spastic quadriplegia2EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM12609137606180
HP:0001257HP:0031957Spastic hemiparetic gait2EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM12609137606180
HP:0001257HP:0031958Spastic paraparetic gait2EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM12609137606180
HP:0001257HP:0002313Spastic paraparesis2EZH2 CL E G H21463447ORPHA15383527601573
HP:0001257HP:0001258Spastic paraplegia2EZH2 CL E G H21463447ORPHA15383527601573
HP:0001257HP:0002478Progressive spastic quadriplegia2EZH2 CL E G H21463447ORPHA15383527601573
HP:0001257HP:0031957Spastic hemiparetic gait2EZH2 CL E G H21463447ORPHA15383527601573
HP:0001257HP:0031958Spastic paraparetic gait2EZH2 CL E G H21463447ORPHA15383527601573
HP:0001257HP:0002313Spastic paraparesis2EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0001257HP:0001258Spastic paraplegia2EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0001257HP:0002478Progressive spastic quadriplegia2EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0001257HP:0031957Spastic hemiparetic gait2EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0001257HP:0031958Spastic paraparetic gait2EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0001257HP:0002313Spastic paraparesis2FAR1 CL E G H84188616154Peroxisomal fatty acyl-coa reductase 1 disorder616154C4015344OMIM128226222616107
HP:0001257HP:0001258Spastic paraplegia2FAR1 CL E G H84188616154Peroxisomal fatty acyl-coa reductase 1 disorder616154C4015344OMIM128226222616107
HP:0001257HP:0002478Progressive spastic quadriplegia2FAR1 CL E G H84188616154Peroxisomal fatty acyl-coa reductase 1 disorder616154C4015344OMIM128226222616107
HP:0001257HP:0031957Spastic hemiparetic gait2FAR1 CL E G H84188616154Peroxisomal fatty acyl-coa reductase 1 disorder616154C4015344OMIM128226222616107
HP:0001257HP:0031958Spastic paraparetic gait2FAR1 CL E G H84188616154Peroxisomal fatty acyl-coa reductase 1 disorder616154C4015344OMIM128226222616107
HP:0001257HP:0002313Spastic paraparesis2FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0001257HP:0001258Spastic paraplegia2FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0001257HP:0002478Progressive spastic quadriplegia2FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0001257HP:0031957Spastic hemiparetic gait2FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0001257HP:0031958Spastic paraparetic gait2FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0001257HP:0002313Spastic paraparesis2FGFR1 CL E G H22602396ORPHA19363688136350
HP:0001257HP:0001258Spastic paraplegia2FGFR1 CL E G H22602396ORPHA19363688136350
HP:0001257HP:0002478Progressive spastic quadriplegia2FGFR1 CL E G H22602396ORPHA19363688136350
HP:0001257HP:0031957Spastic hemiparetic gait2FGFR1 CL E G H22602396ORPHA19363688136350
HP:0001257HP:0031958Spastic paraparetic gait2FGFR1 CL E G H22602396ORPHA19363688136350
HP:0001257HP:0002313Spastic paraparesis2FIG4 CL E G H9896803ORPHA192616873609390
HP:0001257HP:0001258Spastic paraplegia2FIG4 CL E G H9896803ORPHA192616873609390
HP:0001257HP:0002478Progressive spastic quadriplegia2FIG4 CL E G H9896803ORPHA192616873609390
HP:0001257HP:0031957Spastic hemiparetic gait2FIG4 CL E G H9896803ORPHA192616873609390
HP:0001257HP:0031958Spastic paraparetic gait2FIG4 CL E G H9896803ORPHA192616873609390
HP:0001257HP:0002313Spastic paraparesis2FOXG1 CL E G H22903095ORPHA17253811164874
HP:0001257HP:0001258Spastic paraplegia2FOXG1 CL E G H22903095ORPHA17253811164874
HP:0001257HP:0002478Progressive spastic quadriplegia2FOXG1 CL E G H22903095ORPHA17253811164874
HP:0001257HP:0031957Spastic hemiparetic gait2FOXG1 CL E G H22903095ORPHA17253811164874
HP:0001257HP:0031958Spastic paraparetic gait2FOXG1 CL E G H22903095ORPHA17253811164874
HP:0001257HP:0002313Spastic paraparesis2FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM17253811164874
HP:0001257HP:0001258Spastic paraplegia2FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM17253811164874
HP:0001257HP:0002478Progressive spastic quadriplegia2FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM17253811164874
HP:0001257HP:0031957Spastic hemiparetic gait2FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM17253811164874
HP:0001257HP:0031958Spastic paraparetic gait2FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM17253811164874
HP:0001257HP:0002313Spastic paraparesis2FRMPD4 CL E G H9758300983Mental retardation, X-linked 104300983C4310817OMIM145029007300838
HP:0001257HP:0001258Spastic paraplegia2FRMPD4 CL E G H9758300983Mental retardation, X-linked 104300983C4310817OMIM145029007300838
HP:0001257HP:0002478Progressive spastic quadriplegia2FRMPD4 CL E G H9758300983Mental retardation, X-linked 104300983C4310817OMIM145029007300838
HP:0001257HP:0031957Spastic hemiparetic gait2FRMPD4 CL E G H9758300983Mental retardation, X-linked 104300983C4310817OMIM145029007300838
HP:0001257HP:0031958Spastic paraparetic gait2FRMPD4 CL E G H9758300983Mental retardation, X-linked 104300983C4310817OMIM145029007300838
HP:0001257HP:0002313Spastic paraparesis2FRRS1L CL E G H23732616981Epileptic encephalopathy, early infantile, 37616981C4310770OMIM14021362604574
HP:0001257HP:0001258Spastic paraplegia2FRRS1L CL E G H23732616981Epileptic encephalopathy, early infantile, 37616981C4310770OMIM14021362604574
HP:0001257HP:0002478Progressive spastic quadriplegia2FRRS1L CL E G H23732616981Epileptic encephalopathy, early infantile, 37616981C4310770OMIM14021362604574
HP:0001257HP:0031957Spastic hemiparetic gait2FRRS1L CL E G H23732616981Epileptic encephalopathy, early infantile, 37616981C4310770OMIM14021362604574
HP:0001257HP:0031958Spastic paraparetic gait2FRRS1L CL E G H23732616981Epileptic encephalopathy, early infantile, 37616981C4310770OMIM14021362604574
HP:0001257HP:0002313Spastic paraparesis2FTL CL E G H2512606159Neuroferritinopathy606159C1853578OMIM11853999134790
HP:0001257HP:0001258Spastic paraplegia2FTL CL E G H2512606159Neuroferritinopathy606159C1853578OMIM11853999134790
HP:0001257HP:0002478Progressive spastic quadriplegia2FTL CL E G H2512606159Neuroferritinopathy606159C1853578OMIM11853999134790
HP:0001257HP:0031957Spastic hemiparetic gait2FTL CL E G H2512606159Neuroferritinopathy606159C1853578OMIM11853999134790
HP:0001257HP:0031958Spastic paraparetic gait2FTL CL E G H2512606159Neuroferritinopathy606159C1853578OMIM11853999134790
HP:0001257HP:0002313Spastic paraparesis2FUS CL E G H2521803ORPHA14744010137070
HP:0001257HP:0001258Spastic paraplegia2FUS CL E G H2521803ORPHA14744010137070
HP:0001257HP:0002478Progressive spastic quadriplegia2FUS CL E G H2521803ORPHA14744010137070
HP:0001257HP:0031957Spastic hemiparetic gait2FUS CL E G H2521803ORPHA14744010137070
HP:0001257HP:0031958Spastic paraparetic gait2FUS CL E G H2521803ORPHA14744010137070
HP:0001257HP:0002313Spastic paraparesis2FUS CL E G H2521300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA14744010137070
HP:0001257HP:0001258Spastic paraplegia2FUS CL E G H2521300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA14744010137070
HP:0001257HP:0002478Progressive spastic quadriplegia2FUS CL E G H2521300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA14744010137070
HP:0001257HP:0031957Spastic hemiparetic gait2FUS CL E G H2521300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA14744010137070
HP:0001257HP:0031958Spastic paraparetic gait2FUS CL E G H2521300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA14744010137070
HP:0001257HP:0002313Spastic paraparesis2GABBR2 CL E G H95683095ORPHA18484507607340
HP:0001257HP:0001258Spastic paraplegia2GABBR2 CL E G H95683095ORPHA18484507607340
HP:0001257HP:0002478Progressive spastic quadriplegia2GABBR2 CL E G H95683095ORPHA18484507607340
HP:0001257HP:0031957Spastic hemiparetic gait2GABBR2 CL E G H95683095ORPHA18484507607340
HP:0001257HP:0031958Spastic paraparetic gait2GABBR2 CL E G H95683095ORPHA18484507607340
HP:0001257HP:0002313Spastic paraparesis2GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM14944082600232
HP:0001257HP:0001258Spastic paraplegia2GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM14944082600232
HP:0001257HP:0002478Progressive spastic quadriplegia2GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM14944082600232
HP:0001257HP:0031957Spastic hemiparetic gait2GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM14944082600232
HP:0001257HP:0031958Spastic paraparetic gait2GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM14944082600232
HP:0001257HP:0002313Spastic paraparesis2GAN CL E G H8139643ORPHA17774137605379
HP:0001257HP:0001258Spastic paraplegia2GAN CL E G H8139643ORPHA17774137605379
HP:0001257HP:0002478Progressive spastic quadriplegia2GAN CL E G H8139643ORPHA17774137605379
HP:0001257HP:0031957Spastic hemiparetic gait2GAN CL E G H8139643ORPHA17774137605379
HP:0001257HP:0031958Spastic paraparetic gait2GAN CL E G H8139643ORPHA17774137605379
HP:0001257HP:0002313Spastic paraparesis2GBA CL E G H262977260ORPHA14177606463
HP:0001257HP:0001258Spastic paraplegia2GBA CL E G H262977260ORPHA14177606463
HP:0001257HP:0002478Progressive spastic quadriplegia2GBA CL E G H262977260ORPHA14177606463
HP:0001257HP:0031957Spastic hemiparetic gait2GBA CL E G H262977260ORPHA14177606463
HP:0001257HP:0031958Spastic paraparetic gait2GBA CL E G H262977260ORPHA14177606463
HP:0001257HP:0002313Spastic paraparesis2GBA CL E G H2629230900Acute neuronopathic Gaucher's disease230900C0268250OMIM14177606463
HP:0001257HP:0001258Spastic paraplegia2GBA CL E G H2629230900Acute neuronopathic Gaucher's disease230900C0268250OMIM14177606463
HP:0001257HP:0002478Progressive spastic quadriplegia2GBA CL E G H2629230900Acute neuronopathic Gaucher's disease230900C0268250OMIM14177606463
HP:0001257HP:0031957Spastic hemiparetic gait2GBA CL E G H2629230900Acute neuronopathic Gaucher's disease230900C0268250OMIM14177606463
HP:0001257HP:0031958Spastic paraparetic gait2GBA CL E G H2629230900Acute neuronopathic Gaucher's disease230900C0268250OMIM14177606463
HP:0001257HP:0002313Spastic paraparesis2GBE1 CL E G H2632206583ORPHA17844180607839
HP:0001257HP:0001258Spastic paraplegia2GBE1 CL E G H2632206583ORPHA17844180607839
HP:0001257HP:0002478Progressive spastic quadriplegia2GBE1 CL E G H2632206583ORPHA17844180607839
HP:0001257HP:0031957Spastic hemiparetic gait2GBE1 CL E G H2632206583ORPHA17844180607839
HP:0001257HP:0031958Spastic paraparetic gait2GBE1 CL E G H2632206583ORPHA17844180607839
HP:0001257HP:0002313Spastic paraparesis2GCDH CL E G H263925ORPHA17204189608801
HP:0001257HP:0001258Spastic paraplegia2GCDH CL E G H263925ORPHA17204189608801
HP:0001257HP:0002478Progressive spastic quadriplegia2GCDH CL E G H263925ORPHA17204189608801
HP:0001257HP:0031957Spastic hemiparetic gait2GCDH CL E G H263925ORPHA17204189608801
HP:0001257HP:0031958Spastic paraparetic gait2GCDH CL E G H263925ORPHA17204189608801
HP:0001257HP:0002313Spastic paraparesis2GFAP CL E G H2670203450Alexander's disease203450C0270726OMIM14554235137780
HP:0001257HP:0001258Spastic paraplegia2GFAP CL E G H2670203450Alexander's disease203450C0270726OMIM14554235137780
HP:0001257HP:0002478Progressive spastic quadriplegia2GFAP CL E G H2670203450Alexander's disease203450C0270726OMIM14554235137780
HP:0001257HP:0031957Spastic hemiparetic gait2GFAP CL E G H2670203450Alexander's disease203450C0270726OMIM14554235137780
HP:0001257HP:0031958Spastic paraparetic gait2GFAP CL E G H2670203450Alexander's disease203450C0270726OMIM14554235137780
HP:0001257HP:0002313Spastic paraparesis2GFM1 CL E G H85476609060Combined oxidative phosphorylation deficiency 1609060C1836797OMIM165013780606639
HP:0001257HP:0001258Spastic paraplegia2GFM1 CL E G H85476609060Combined oxidative phosphorylation deficiency 1609060C1836797OMIM165013780606639
HP:0001257HP:0002478Progressive spastic quadriplegia2GFM1 CL E G H85476609060Combined oxidative phosphorylation deficiency 1609060C1836797OMIM165013780606639
HP:0001257HP:0031957Spastic hemiparetic gait2GFM1 CL E G H85476609060Combined oxidative phosphorylation deficiency 1609060C1836797OMIM165013780606639
HP:0001257HP:0031958Spastic paraparetic gait2GFM1 CL E G H85476609060Combined oxidative phosphorylation deficiency 1609060C1836797OMIM165013780606639
HP:0001257HP:0002313Spastic paraparesis2GJA1 CL E G H2697164200Oculodentodigital dysplasia164200C0812437OMIM12724274121014
HP:0001257HP:0001258Spastic paraplegia2GJA1 CL E G H2697164200Oculodentodigital dysplasia164200C0812437OMIM12724274121014
HP:0001257HP:0002478Progressive spastic quadriplegia2GJA1 CL E G H2697164200Oculodentodigital dysplasia164200C0812437OMIM12724274121014
HP:0001257HP:0031957Spastic hemiparetic gait2GJA1 CL E G H2697164200Oculodentodigital dysplasia164200C0812437OMIM12724274121014
HP:0001257HP:0031958Spastic paraparetic gait2GJA1 CL E G H2697164200Oculodentodigital dysplasia164200C0812437OMIM12724274121014
HP:0001257HP:0002313Spastic paraparesis2GLE1 CL E G H2733803ORPHA14754315603371
HP:0001257HP:0001258Spastic paraplegia2GLE1 CL E G H2733803ORPHA14754315603371
HP:0001257HP:0002478Progressive spastic quadriplegia2GLE1 CL E G H2733803ORPHA14754315603371
HP:0001257HP:0031957Spastic hemiparetic gait2GLE1 CL E G H2733803ORPHA14754315603371
HP:0001257HP:0031958Spastic paraparetic gait2GLE1 CL E G H2733803ORPHA14754315603371
HP:0001257HP:0002313Spastic paraparesis2GLRA1 CL E G H27413197Lateral body wall defectORPHA14474326138491
HP:0001257HP:0001258Spastic paraplegia2GLRA1 CL E G H27413197Lateral body wall defectORPHA14474326138491
HP:0001257HP:0002478Progressive spastic quadriplegia2GLRA1 CL E G H27413197Lateral body wall defectORPHA14474326138491
HP:0001257HP:0031957Spastic hemiparetic gait2GLRA1 CL E G H27413197Lateral body wall defectORPHA14474326138491
HP:0001257HP:0031958Spastic paraparetic gait2GLRA1 CL E G H27413197Lateral body wall defectORPHA14474326138491
HP:0001257HP:0002313Spastic paraparesis2GLRB CL E G H27433197Lateral body wall defectORPHA13794329138492
HP:0001257HP:0001258Spastic paraplegia2GLRB CL E G H27433197Lateral body wall defectORPHA13794329138492
HP:0001257HP:0002478Progressive spastic quadriplegia2GLRB CL E G H27433197Lateral body wall defectORPHA13794329138492
HP:0001257HP:0031957Spastic hemiparetic gait2GLRB CL E G H27433197Lateral body wall defectORPHA13794329138492
HP:0001257HP:0031958Spastic paraparetic gait2GLRB CL E G H27433197Lateral body wall defectORPHA13794329138492
HP:0001257HP:0002313Spastic paraparesis2GNAO1 CL E G H2775617493Neurodevelopmental disorder with involuntary movements617493C4479569OMIM14294389139311
HP:0001257HP:0001258Spastic paraplegia2GNAO1 CL E G H2775617493Neurodevelopmental disorder with involuntary movements617493C4479569OMIM14294389139311
HP:0001257HP:0002478Progressive spastic quadriplegia2GNAO1 CL E G H2775617493Neurodevelopmental disorder with involuntary movements617493C4479569OMIM14294389139311
HP:0001257HP:0031957Spastic hemiparetic gait2GNAO1 CL E G H2775617493Neurodevelopmental disorder with involuntary movements617493C4479569OMIM14294389139311
HP:0001257HP:0031958Spastic paraparetic gait2GNAO1 CL E G H2775617493Neurodevelopmental disorder with involuntary movements617493C4479569OMIM14294389139311
HP:0001257HP:0002313Spastic paraparesis2GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM15274446603048
HP:0001257HP:0001258Spastic paraplegia2GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM15274446603048
HP:0001257HP:0002478Progressive spastic quadriplegia2GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM15274446603048
HP:0001257HP:0031957Spastic hemiparetic gait2GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM15274446603048
HP:0001257HP:0031958Spastic paraparetic gait2GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM15274446603048
HP:0001257HP:0002313Spastic paraparesis2GPHN CL E G H102433197Lateral body wall defectORPHA1147315465603930
HP:0001257HP:0001258Spastic paraplegia2GPHN CL E G H102433197Lateral body wall defectORPHA1147315465603930
HP:0001257HP:0002478Progressive spastic quadriplegia2GPHN CL E G H102433197Lateral body wall defectORPHA1147315465603930
HP:0001257HP:0031957Spastic hemiparetic gait2GPHN CL E G H102433197Lateral body wall defectORPHA1147315465603930
HP:0001257HP:0031958Spastic paraparetic gait2GPHN CL E G H102433197Lateral body wall defectORPHA1147315465603930
HP:0001257HP:0002313Spastic paraparesis2GPT2 CL E G H84706616281Mental retardation, autosomal recessive 49616281C4225388OMIM110918062138210
HP:0001257HP:0001258Spastic paraplegia2GPT2 CL E G H84706616281Mental retardation, autosomal recessive 49616281C4225388OMIM110918062138210
HP:0001257HP:0002478Progressive spastic quadriplegia2GPT2 CL E G H84706616281Mental retardation, autosomal recessive 49616281C4225388OMIM110918062138210
HP:0001257HP:0031957Spastic hemiparetic gait2GPT2 CL E G H84706616281Mental retardation, autosomal recessive 49616281C4225388OMIM110918062138210
HP:0001257HP:0031958Spastic paraparetic gait2GPT2 CL E G H84706616281Mental retardation, autosomal recessive 49616281C4225388OMIM110918062138210
HP:0001257HP:0002313Spastic paraparesis2GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM19294584138249
HP:0001257HP:0001258Spastic paraplegia2GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM19294584138249
HP:0001257HP:0002478Progressive spastic quadriplegia2GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM19294584138249
HP:0001257HP:0031957Spastic hemiparetic gait2GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM19294584138249
HP:0001257HP:0031958Spastic paraparetic gait2GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM19294584138249
HP:0001257HP:0002313Spastic paraparesis2GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0001257HP:0001258Spastic paraplegia2GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0001257HP:0002478Progressive spastic quadriplegia2GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0001257HP:0031957Spastic hemiparetic gait2GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0001257HP:0031958Spastic paraparetic gait2GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0001257HP:0002313Spastic paraparesis2GRIN2B CL E G H2904616139Epileptic encephalopathy, early infantile, 27616139C4015316OMIM113534586138252
HP:0001257HP:0001258Spastic paraplegia2GRIN2B CL E G H2904616139Epileptic encephalopathy, early infantile, 27616139C4015316OMIM113534586138252
HP:0001257HP:0002478Progressive spastic quadriplegia2GRIN2B CL E G H2904616139Epileptic encephalopathy, early infantile, 27616139C4015316OMIM113534586138252
HP:0001257HP:0031957Spastic hemiparetic gait2GRIN2B CL E G H2904616139Epileptic encephalopathy, early infantile, 27616139C4015316OMIM113534586138252
HP:0001257HP:0031958Spastic paraparetic gait2GRIN2B CL E G H2904616139Epileptic encephalopathy, early infantile, 27616139C4015316OMIM113534586138252
HP:0001257HP:0002313Spastic paraparesis2GRIN2B CL E G H2904613970Mental retardation, autosomal dominant 6613970C3151411OMIM113534586138252
HP:0001257HP:0001258Spastic paraplegia2GRIN2B CL E G H2904613970Mental retardation, autosomal dominant 6613970C3151411OMIM113534586138252
HP:0001257HP:0002478Progressive spastic quadriplegia2GRIN2B CL E G H2904613970Mental retardation, autosomal dominant 6613970C3151411OMIM113534586138252
HP:0001257HP:0031957Spastic hemiparetic gait2GRIN2B CL E G H2904613970Mental retardation, autosomal dominant 6613970C3151411OMIM113534586138252
HP:0001257HP:0031958Spastic paraparetic gait2GRIN2B CL E G H2904613970Mental retardation, autosomal dominant 6613970C3151411OMIM113534586138252
HP:0001257HP:0002313Spastic paraparesis2GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0001257HP:0001258Spastic paraplegia2GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0001257HP:0002478Progressive spastic quadriplegia2GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0001257HP:0031957Spastic hemiparetic gait2GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0001257HP:0031958Spastic paraparetic gait2GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0001257HP:0002313Spastic paraparesis2GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0001257HP:0001258Spastic paraplegia2GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0001257HP:0002478Progressive spastic quadriplegia2GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0001257HP:0031957Spastic hemiparetic gait2GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0001257HP:0031958Spastic paraparetic gait2GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0001257HP:0002313Spastic paraparesis2GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM11474670607434
HP:0001257HP:0001258Spastic paraplegia2GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM11474670607434
HP:0001257HP:0002478Progressive spastic quadriplegia2GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM11474670607434
HP:0001257HP:0031957Spastic hemiparetic gait2GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM11474670607434
HP:0001257HP:0031958Spastic paraparetic gait2GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM11474670607434
HP:0001257HP:0002313Spastic paraparesis2GUF1 CL E G H60558617065Epileptic encephalopathy, early infantile, 40617065C4310737OMIM130925799617064
HP:0001257HP:0001258Spastic paraplegia2GUF1 CL E G H60558617065Epileptic encephalopathy, early infantile, 40617065C4310737OMIM130925799617064
HP:0001257HP:0002478Progressive spastic quadriplegia2GUF1 CL E G H60558617065Epileptic encephalopathy, early infantile, 40617065C4310737OMIM130925799617064
HP:0001257HP:0031957Spastic hemiparetic gait2GUF1 CL E G H60558617065Epileptic encephalopathy, early infantile, 40617065C4310737OMIM130925799617064
HP:0001257HP:0031958Spastic paraparetic gait2GUF1 CL E G H60558617065Epileptic encephalopathy, early infantile, 40617065C4310737OMIM130925799617064
HP:0001257HP:0002313Spastic paraparesis2HEPACAM CL E G H220296604004Megalencephalic leukoencephalopathy with subcortical cysts 1604004C1858854OMIM130426361611642
HP:0001257HP:0001258Spastic paraplegia2HEPACAM CL E G H220296604004Megalencephalic leukoencephalopathy with subcortical cysts 1604004C1858854OMIM130426361611642
HP:0001257HP:0002478Progressive spastic quadriplegia2HEPACAM CL E G H220296604004Megalencephalic leukoencephalopathy with subcortical cysts 1604004C1858854OMIM130426361611642
HP:0001257HP:0031957Spastic hemiparetic gait2HEPACAM CL E G H220296604004Megalencephalic leukoencephalopathy with subcortical cysts 1604004C1858854OMIM130426361611642
HP:0001257HP:0031958Spastic paraparetic gait2HEPACAM CL E G H220296604004Megalencephalic leukoencephalopathy with subcortical cysts 1604004C1858854OMIM130426361611642
HP:0001257HP:0002313Spastic paraparesis2HEPACAM CL E G H220296613925Megalencephalic leukoencephalopathy with subcortical cysts 2a613925C3151355OMIM130426361611642
HP:0001257HP:0001258Spastic paraplegia2HEPACAM CL E G H220296613925Megalencephalic leukoencephalopathy with subcortical cysts 2a613925C3151355OMIM130426361611642
HP:0001257HP:0002478Progressive spastic quadriplegia2HEPACAM CL E G H220296613925Megalencephalic leukoencephalopathy with subcortical cysts 2a613925C3151355OMIM130426361611642
HP:0001257HP:0031957Spastic hemiparetic gait2HEPACAM CL E G H220296613925Megalencephalic leukoencephalopathy with subcortical cysts 2a613925C3151355OMIM130426361611642
HP:0001257HP:0031958Spastic paraparetic gait2HEPACAM CL E G H220296613925Megalencephalic leukoencephalopathy with subcortical cysts 2a613925C3151355OMIM130426361611642
HP:0001257HP:0002313Spastic paraparesis2HIKESHI CL E G H51501616881Leukodystrophy, hypomyelinating, 13616881C4225170OMIM17626938614908
HP:0001257HP:0001258Spastic paraplegia2HIKESHI CL E G H51501616881Leukodystrophy, hypomyelinating, 13616881C4225170OMIM17626938614908
HP:0001257HP:0002478Progressive spastic quadriplegia2HIKESHI CL E G H51501616881Leukodystrophy, hypomyelinating, 13616881C4225170OMIM17626938614908
HP:0001257HP:0031957Spastic hemiparetic gait2HIKESHI CL E G H51501616881Leukodystrophy, hypomyelinating, 13616881C4225170OMIM17626938614908
HP:0001257HP:0031958Spastic paraparetic gait2HIKESHI CL E G H51501616881Leukodystrophy, hypomyelinating, 13616881C4225170OMIM17626938614908
HP:0001257HP:0002313Spastic paraparesis2HMGCL CL E G H3155246450Deficiency of hydroxymethylglutaryl-CoA lyase246450C0268601OMIM14205005613898
HP:0001257HP:0001258Spastic paraplegia2HMGCL CL E G H3155246450Deficiency of hydroxymethylglutaryl-CoA lyase246450C0268601OMIM14205005613898
HP:0001257HP:0002478Progressive spastic quadriplegia2HMGCL CL E G H3155246450Deficiency of hydroxymethylglutaryl-CoA lyase246450C0268601OMIM14205005613898
HP:0001257HP:0031957Spastic hemiparetic gait2HMGCL CL E G H3155246450Deficiency of hydroxymethylglutaryl-CoA lyase246450C0268601OMIM14205005613898
HP:0001257HP:0031958Spastic paraparetic gait2HMGCL CL E G H3155246450Deficiency of hydroxymethylglutaryl-CoA lyase246450C0268601OMIM14205005613898
HP:0001257HP:0002313Spastic paraparesis2HNRNPA1 CL E G H3178803ORPHA1805031164017
HP:0001257HP:0001258Spastic paraplegia2HNRNPA1 CL E G H3178803ORPHA1805031164017
HP:0001257HP:0002478Progressive spastic quadriplegia2HNRNPA1 CL E G H3178803ORPHA1805031164017
HP:0001257HP:0031957Spastic hemiparetic gait2HNRNPA1 CL E G H3178803ORPHA1805031164017
HP:0001257HP:0031958Spastic paraparetic gait2HNRNPA1 CL E G H3178803ORPHA1805031164017
HP:0001257HP:0002313Spastic paraparesis2HPRT1 CL E G H3251510ORPHA13545157308000
HP:0001257HP:0001258Spastic paraplegia2HPRT1 CL E G H3251510ORPHA13545157308000
HP:0001257HP:0002478Progressive spastic quadriplegia2HPRT1 CL E G H3251510ORPHA13545157308000
HP:0001257HP:0031957Spastic hemiparetic gait2HPRT1 CL E G H3251510ORPHA13545157308000
HP:0001257HP:0031958Spastic paraparetic gait2HPRT1 CL E G H3251510ORPHA13545157308000
HP:0001257HP:0002313Spastic paraparesis2HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0001257HP:0001258Spastic paraplegia2HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0001257HP:0002478Progressive spastic quadriplegia2HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0001257HP:0031957Spastic hemiparetic gait2HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0001257HP:0031958Spastic paraparetic gait2HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0001257HP:0002313Spastic paraparesis2HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM12859476602194
HP:0001257HP:0001258Spastic paraplegia2HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM12859476602194
HP:0001257HP:0002478Progressive spastic quadriplegia2HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM12859476602194
HP:0001257HP:0031957Spastic hemiparetic gait2HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM12859476602194
HP:0001257HP:0031958Spastic paraparetic gait2HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM12859476602194
HP:0001257HP:0002313Spastic paraparesis2HTT CL E G H306439946,XX testicular disorder of sex developmentC2936420ORPHA17604851613004
HP:0001257HP:0001258Spastic paraplegia2HTT CL E G H306439946,XX testicular disorder of sex developmentC2936420ORPHA17604851613004
HP:0001257HP:0002478Progressive spastic quadriplegia2HTT CL E G H306439946,XX testicular disorder of sex developmentC2936420ORPHA17604851613004
HP:0001257HP:0031957Spastic hemiparetic gait2HTT CL E G H306439946,XX testicular disorder of sex developmentC2936420ORPHA17604851613004
HP:0001257HP:0031958Spastic paraparetic gait2HTT CL E G H306439946,XX testicular disorder of sex developmentC2936420ORPHA17604851613004
HP:0001257HP:0002313Spastic paraparesis2HTT CL E G H3064617435Lopes-Maciel-Rodan syndrome617435C4479491OMIM17604851613004
HP:0001257HP:0001258Spastic paraplegia2HTT CL E G H3064617435Lopes-Maciel-Rodan syndrome617435C4479491OMIM17604851613004
HP:0001257HP:0002478Progressive spastic quadriplegia2HTT CL E G H3064617435Lopes-Maciel-Rodan syndrome617435C4479491OMIM17604851613004
HP:0001257HP:0031957Spastic hemiparetic gait2HTT CL E G H3064617435Lopes-Maciel-Rodan syndrome617435C4479491OMIM17604851613004
HP:0001257HP:0031958Spastic paraparetic gait2HTT CL E G H3064617435Lopes-Maciel-Rodan syndrome617435C4479491OMIM17604851613004
HP:0001257HP:0002313Spastic paraparesis2IKBKG CL E G H8517308300Incontinentia pigmenti syndrome308300C0021171OMIM13875961300248
HP:0001257HP:0001258Spastic paraplegia2IKBKG CL E G H8517308300Incontinentia pigmenti syndrome308300C0021171OMIM13875961300248
HP:0001257HP:0002478Progressive spastic quadriplegia2IKBKG CL E G H8517308300Incontinentia pigmenti syndrome308300C0021171OMIM13875961300248
HP:0001257HP:0031957Spastic hemiparetic gait2IKBKG CL E G H8517308300Incontinentia pigmenti syndrome308300C0021171OMIM13875961300248
HP:0001257HP:0031958Spastic paraparetic gait2IKBKG CL E G H8517308300Incontinentia pigmenti syndrome308300C0021171OMIM13875961300248
HP:0001257HP:0002313Spastic paraparesis2INPP5K CL E G H51763559ORPHA118733882607875
HP:0001257HP:0001258Spastic paraplegia2INPP5K CL E G H51763559ORPHA118733882607875
HP:0001257HP:0002478Progressive spastic quadriplegia2INPP5K CL E G H51763559ORPHA118733882607875
HP:0001257HP:0031957Spastic hemiparetic gait2INPP5K CL E G H51763559ORPHA118733882607875
HP:0001257HP:0031958Spastic paraparetic gait2INPP5K CL E G H51763559ORPHA118733882607875
HP:0001257HP:0002313Spastic paraparesis2IRF2BPL CL E G H64207618088NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES618088CN252701OMIM131214282611720
HP:0001257HP:0001258Spastic paraplegia2IRF2BPL CL E G H64207618088NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES618088CN252701OMIM131214282611720
HP:0001257HP:0002478Progressive spastic quadriplegia2IRF2BPL CL E G H64207618088NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES618088CN252701OMIM131214282611720
HP:0001257HP:0031957Spastic hemiparetic gait2IRF2BPL CL E G H64207618088NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES618088CN252701OMIM131214282611720
HP:0001257HP:0031958Spastic paraparetic gait2IRF2BPL CL E G H64207618088NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES618088CN252701OMIM131214282611720
HP:0001257HP:0002313Spastic paraparesis2ISCA1 CL E G H81689617613MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5617613C4539919OMIM16028660611006
HP:0001257HP:0001258Spastic paraplegia2ISCA1 CL E G H81689617613MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5617613C4539919OMIM16028660611006
HP:0001257HP:0002478Progressive spastic quadriplegia2ISCA1 CL E G H81689617613MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5617613C4539919OMIM16028660611006
HP:0001257HP:0031957Spastic hemiparetic gait2ISCA1 CL E G H81689617613MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5617613C4539919OMIM16028660611006
HP:0001257HP:0031958Spastic paraparetic gait2ISCA1 CL E G H81689617613MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5617613C4539919OMIM16028660611006
HP:0001257HP:0002313Spastic paraparesis2ISCA2 CL E G H122961616370Multiple mitochondrial dysfunctions syndrome 4616370C4225348OMIM18319857615317
HP:0001257HP:0001258Spastic paraplegia2ISCA2 CL E G H122961616370Multiple mitochondrial dysfunctions syndrome 4616370C4225348OMIM18319857615317
HP:0001257HP:0002478Progressive spastic quadriplegia2ISCA2 CL E G H122961616370Multiple mitochondrial dysfunctions syndrome 4616370C4225348OMIM18319857615317
HP:0001257HP:0031957Spastic hemiparetic gait2ISCA2 CL E G H122961616370Multiple mitochondrial dysfunctions syndrome 4616370C4225348OMIM18319857615317
HP:0001257HP:0031958Spastic paraparetic gait2ISCA2 CL E G H122961616370Multiple mitochondrial dysfunctions syndrome 4616370C4225348OMIM18319857615317
HP:0001257HP:0002313Spastic paraparesis2ITM2B CL E G H9445176500Dementia familial British176500C1867773OMIM11776174603904
HP:0001257HP:0001258Spastic paraplegia2ITM2B CL E G H9445176500Dementia familial British176500C1867773OMIM11776174603904
HP:0001257HP:0002478Progressive spastic quadriplegia2ITM2B CL E G H9445176500Dementia familial British176500C1867773OMIM11776174603904
HP:0001257HP:0031957Spastic hemiparetic gait2ITM2B CL E G H9445176500Dementia familial British176500C1867773OMIM11776174603904
HP:0001257HP:0031958Spastic paraparetic gait2ITM2B CL E G H9445176500Dementia familial British176500C1867773OMIM11776174603904
HP:0001257HP:0002313Spastic paraparesis2ITM2B CL E G H9445117300Dementia, familial Danish117300C1861735OMIM11776174603904
HP:0001257HP:0001258Spastic paraplegia2ITM2B CL E G H9445117300Dementia, familial Danish117300C1861735OMIM11776174603904
HP:0001257HP:0002478Progressive spastic quadriplegia2ITM2B CL E G H9445117300Dementia, familial Danish117300C1861735OMIM11776174603904
HP:0001257HP:0031957Spastic hemiparetic gait2ITM2B CL E G H9445117300Dementia, familial Danish117300C1861735OMIM11776174603904
HP:0001257HP:0031958Spastic paraparetic gait2ITM2B CL E G H9445117300Dementia, familial Danish117300C1861735OMIM11776174603904
HP:0001257HP:0002313Spastic paraparesis2JAM3 CL E G H83700613730Hemorrhagic destruction of the brain, subependymal calcification, and cataracts613730C3151000OMIM126515532606871
HP:0001257HP:0001258Spastic paraplegia2JAM3 CL E G H83700613730Hemorrhagic destruction of the brain, subependymal calcification, and cataracts613730C3151000OMIM126515532606871
HP:0001257HP:0002478Progressive spastic quadriplegia2JAM3 CL E G H83700613730Hemorrhagic destruction of the brain, subependymal calcification, and cataracts613730C3151000OMIM126515532606871
HP:0001257HP:0031957Spastic hemiparetic gait2JAM3 CL E G H83700613730Hemorrhagic destruction of the brain, subependymal calcification, and cataracts613730C3151000OMIM126515532606871
HP:0001257HP:0031958Spastic paraparetic gait2JAM3 CL E G H83700613730Hemorrhagic destruction of the brain, subependymal calcification, and cataracts613730C3151000OMIM126515532606871
HP:0001257HP:0002313Spastic paraparesis2KCNT1 CL E G H57582614959Early infantile epileptic encephalopathy 14614959C3554195OMIM1200018865608167
HP:0001257HP:0001258Spastic paraplegia2KCNT1 CL E G H57582614959Early infantile epileptic encephalopathy 14614959C3554195OMIM1200018865608167
HP:0001257HP:0002478Progressive spastic quadriplegia2KCNT1 CL E G H57582614959Early infantile epileptic encephalopathy 14614959C3554195OMIM1200018865608167
HP:0001257HP:0031957Spastic hemiparetic gait2KCNT1 CL E G H57582614959Early infantile epileptic encephalopathy 14614959C3554195OMIM1200018865608167
HP:0001257HP:0031958Spastic paraparetic gait2KCNT1 CL E G H57582614959Early infantile epileptic encephalopathy 14614959C3554195OMIM1200018865608167
HP:0001257HP:0002313Spastic paraparesis2KDM5C CL E G H824285279ORPHA175611114314690
HP:0001257HP:0001258Spastic paraplegia2KDM5C CL E G H824285279ORPHA175611114314690
HP:0001257HP:0002478Progressive spastic quadriplegia2KDM5C CL E G H824285279ORPHA175611114314690
HP:0001257HP:0031957Spastic hemiparetic gait2KDM5C CL E G H824285279ORPHA175611114314690
HP:0001257HP:0031958Spastic paraparetic gait2KDM5C CL E G H824285279ORPHA175611114314690
HP:0001257HP:0002313Spastic paraparesis2KIF1C CL E G H10749397946ORPHA15796317603060
HP:0001257HP:0001258Spastic paraplegia2KIF1C CL E G H10749397946ORPHA15796317603060
HP:0001257HP:0002478Progressive spastic quadriplegia2KIF1C CL E G H10749397946ORPHA15796317603060
HP:0001257HP:0031957Spastic hemiparetic gait2KIF1C CL E G H10749397946ORPHA15796317603060
HP:0001257HP:0031958Spastic paraparetic gait2KIF1C CL E G H10749397946ORPHA15796317603060
HP:0001257HP:0002313Spastic paraparesis2KIF1C CL E G H10749611302Ataxia, spastic, 2, autosomal recessive611302C1969796OMIM15796317603060
HP:0001257HP:0001258Spastic paraplegia2KIF1C CL E G H10749611302Ataxia, spastic, 2, autosomal recessive611302C1969796OMIM15796317603060
HP:0001257HP:0002478Progressive spastic quadriplegia2KIF1C CL E G H10749611302Ataxia, spastic, 2, autosomal recessive611302C1969796OMIM15796317603060
HP:0001257HP:0031957Spastic hemiparetic gait2KIF1C CL E G H10749611302Ataxia, spastic, 2, autosomal recessive611302C1969796OMIM15796317603060
HP:0001257HP:0031958Spastic paraparetic gait2KIF1C CL E G H10749611302Ataxia, spastic, 2, autosomal recessive611302C1969796OMIM15796317603060
HP:0001257HP:0002313Spastic paraparesis2KRAS CL E G H38452396ORPHA14806407190070
HP:0001257HP:0001258Spastic paraplegia2KRAS CL E G H38452396ORPHA14806407190070
HP:0001257HP:0002478Progressive spastic quadriplegia2KRAS CL E G H38452396ORPHA14806407190070
HP:0001257HP:0031957Spastic hemiparetic gait2KRAS CL E G H38452396ORPHA14806407190070
HP:0001257HP:0031958Spastic paraparetic gait2KRAS CL E G H38452396ORPHA14806407190070
HP:0001257HP:0002313Spastic paraparesis2L1CAM CL E G H38972182ORPHA19686470308840
HP:0001257HP:0001258Spastic paraplegia2L1CAM CL E G H38972182ORPHA19686470308840
HP:0001257HP:0002478Progressive spastic quadriplegia2L1CAM CL E G H38972182ORPHA19686470308840
HP:0001257HP:0031957Spastic hemiparetic gait2L1CAM CL E G H38972182ORPHA19686470308840
HP:0001257HP:0031958Spastic paraparetic gait2L1CAM CL E G H38972182ORPHA19686470308840
HP:0001257HP:0002313Spastic paraparesis2L1CAM CL E G H38971497Congenital mixovirusORPHA19686470308840
HP:0001257HP:0001258Spastic paraplegia2L1CAM CL E G H38971497Congenital mixovirusORPHA19686470308840
HP:0001257HP:0002478Progressive spastic quadriplegia2L1CAM CL E G H38971497Congenital mixovirusORPHA19686470308840
HP:0001257HP:0031957Spastic hemiparetic gait2L1CAM CL E G H38971497Congenital mixovirusORPHA19686470308840
HP:0001257HP:0031958Spastic paraparetic gait2L1CAM CL E G H38971497Congenital mixovirusORPHA19686470308840
HP:0001257HP:0002313Spastic paraparesis2L1CAM CL E G H3897304100Corpus callosum, partial agenesis of, X-linked304100C1839909OMIM19686470308840
HP:0001257HP:0001258Spastic paraplegia2L1CAM CL E G H3897304100Corpus callosum, partial agenesis of, X-linked304100C1839909OMIM19686470308840
HP:0001257HP:0002478Progressive spastic quadriplegia2L1CAM CL E G H3897304100Corpus callosum, partial agenesis of, X-linked304100C1839909OMIM19686470308840
HP:0001257HP:0031957Spastic hemiparetic gait2L1CAM CL E G H3897304100Corpus callosum, partial agenesis of, X-linked304100C1839909OMIM19686470308840
HP:0001257HP:0031958Spastic paraparetic gait2L1CAM CL E G H3897304100Corpus callosum, partial agenesis of, X-linked304100C1839909OMIM19686470308840
HP:0001257HP:0002313Spastic paraparesis2L1CAM CL E G H3897307000X-linked hydrocephalus syndrome307000C0265216OMIM19686470308840
HP:0001257HP:0001258Spastic paraplegia2L1CAM CL E G H3897307000X-linked hydrocephalus syndrome307000C0265216OMIM19686470308840
HP:0001257HP:0002478Progressive spastic quadriplegia2L1CAM CL E G H3897307000X-linked hydrocephalus syndrome307000C0265216OMIM19686470308840
HP:0001257HP:0031957Spastic hemiparetic gait2L1CAM CL E G H3897307000X-linked hydrocephalus syndrome307000C0265216OMIM19686470308840
HP:0001257HP:0031958Spastic paraparetic gait2L1CAM CL E G H3897307000X-linked hydrocephalus syndrome307000C0265216OMIM19686470308840
HP:0001257HP:0002313Spastic paraparesis2LAGE3 CL E G H8270301006GALLOWAY-MOWAT SYNDROME 2, X-LINKED301006C4538784OMIM127026058300060
HP:0001257HP:0001258Spastic paraplegia2LAGE3 CL E G H8270301006GALLOWAY-MOWAT SYNDROME 2, X-LINKED301006C4538784OMIM127026058300060
HP:0001257HP:0002478Progressive spastic quadriplegia2LAGE3 CL E G H8270301006GALLOWAY-MOWAT SYNDROME 2, X-LINKED301006C4538784OMIM127026058300060
HP:0001257HP:0031957Spastic hemiparetic gait2LAGE3 CL E G H8270301006GALLOWAY-MOWAT SYNDROME 2, X-LINKED301006C4538784OMIM127026058300060
HP:0001257HP:0031958Spastic paraparetic gait2LAGE3 CL E G H8270301006GALLOWAY-MOWAT SYNDROME 2, X-LINKED301006C4538784OMIM127026058300060
HP:0001257HP:0002313Spastic paraparesis2LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0001257HP:0001258Spastic paraplegia2LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0001257HP:0002478Progressive spastic quadriplegia2LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0001257HP:0031957Spastic hemiparetic gait2LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0001257HP:0031958Spastic paraparetic gait2LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0001257HP:0002313Spastic paraparesis2LMNB1 CL E G H400199027ORPHA12416637150340
HP:0001257HP:0001258Spastic paraplegia2LMNB1 CL E G H400199027ORPHA12416637150340
HP:0001257HP:0002478Progressive spastic quadriplegia2LMNB1 CL E G H400199027ORPHA12416637150340
HP:0001257HP:0031957Spastic hemiparetic gait2LMNB1 CL E G H400199027ORPHA12416637150340
HP:0001257HP:0031958Spastic paraparetic gait2LMNB1 CL E G H400199027ORPHA12416637150340
HP:0001257HP:0002313Spastic paraparesis2LMNB1 CL E G H4001169500Leukodystrophy, adult-onset, autosomal dominant169500C1868512OMIM12416637150340
HP:0001257HP:0001258Spastic paraplegia2LMNB1 CL E G H4001169500Leukodystrophy, adult-onset, autosomal dominant169500C1868512OMIM12416637150340
HP:0001257HP:0002478Progressive spastic quadriplegia2LMNB1 CL E G H4001169500Leukodystrophy, adult-onset, autosomal dominant169500C1868512OMIM12416637150340
HP:0001257HP:0031957Spastic hemiparetic gait2LMNB1 CL E G H4001169500Leukodystrophy, adult-onset, autosomal dominant169500C1868512OMIM12416637150340
HP:0001257HP:0031958Spastic paraparetic gait2LMNB1 CL E G H4001169500Leukodystrophy, adult-onset, autosomal dominant169500C1868512OMIM12416637150340
HP:0001257HP:0002313Spastic paraparesis2MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM113516826609458
HP:0001257HP:0001258Spastic paraplegia2MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM113516826609458
HP:0001257HP:0002478Progressive spastic quadriplegia2MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM113516826609458
HP:0001257HP:0031957Spastic hemiparetic gait2MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM113516826609458
HP:0001257HP:0031958Spastic paraparetic gait2MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM113516826609458
HP:0001257HP:0002313Spastic paraparesis2MARS2 CL E G H92935611390Ataxia, spastic, 3, autosomal recessive611390C1969645OMIM120425133609728
HP:0001257HP:0001258Spastic paraplegia2MARS2 CL E G H92935611390Ataxia, spastic, 3, autosomal recessive611390C1969645OMIM120425133609728
HP:0001257HP:0002478Progressive spastic quadriplegia2MARS2 CL E G H92935611390Ataxia, spastic, 3, autosomal recessive611390C1969645OMIM120425133609728
HP:0001257HP:0031957Spastic hemiparetic gait2MARS2 CL E G H92935611390Ataxia, spastic, 3, autosomal recessive611390C1969645OMIM120425133609728
HP:0001257HP:0031958Spastic paraparetic gait2MARS2 CL E G H92935611390Ataxia, spastic, 3, autosomal recessive611390C1969645OMIM120425133609728
HP:0001257HP:0002313Spastic paraparesis2MATR3 CL E G H9782803ORPHA14506912164015
HP:0001257HP:0001258Spastic paraplegia2MATR3 CL E G H9782803ORPHA14506912164015
HP:0001257HP:0002478Progressive spastic quadriplegia2MATR3 CL E G H9782803ORPHA14506912164015
HP:0001257HP:0031957Spastic hemiparetic gait2MATR3 CL E G H9782803ORPHA14506912164015
HP:0001257HP:0031958Spastic paraparetic gait2MATR3 CL E G H9782803ORPHA14506912164015
HP:0001257HP:0002313Spastic paraparesis2MECP2 CL E G H4204778ORPHA119256990300005
HP:0001257HP:0001258Spastic paraplegia2MECP2 CL E G H4204778ORPHA119256990300005
HP:0001257HP:0002478Progressive spastic quadriplegia2MECP2 CL E G H4204778ORPHA119256990300005
HP:0001257HP:0031957Spastic hemiparetic gait2MECP2 CL E G H4204778ORPHA119256990300005
HP:0001257HP:0031958Spastic paraparetic gait2MECP2 CL E G H4204778ORPHA119256990300005
HP:0001257HP:0002313Spastic paraparesis2MECP2 CL E G H42043095ORPHA119256990300005
HP:0001257HP:0001258Spastic paraplegia2MECP2 CL E G H42043095ORPHA119256990300005
HP:0001257HP:0002478Progressive spastic quadriplegia2MECP2 CL E G H42043095ORPHA119256990300005
HP:0001257HP:0031957Spastic hemiparetic gait2MECP2 CL E G H42043095ORPHA119256990300005
HP:0001257HP:0031958Spastic paraparetic gait2MECP2 CL E G H42043095ORPHA119256990300005
HP:0001257HP:0002313Spastic paraparesis2MECP2 CL E G H4204312750Rett syndrome312750C0035372OMIM119256990300005
HP:0001257HP:0001258Spastic paraplegia2MECP2 CL E G H4204312750Rett syndrome312750C0035372OMIM119256990300005
HP:0001257HP:0002478Progressive spastic quadriplegia2MECP2 CL E G H4204312750Rett syndrome312750C0035372OMIM119256990300005
HP:0001257HP:0031957Spastic hemiparetic gait2MECP2 CL E G H4204312750Rett syndrome312750C0035372OMIM119256990300005
HP:0001257HP:0031958Spastic paraparetic gait2MECP2 CL E G H4204312750Rett syndrome312750C0035372OMIM119256990300005
HP:0001257HP:0002313Spastic paraparesis2MED17 CL E G H9440613668Microcephaly, postnatal progressive, with seizures and brain atrophy613668C3150921OMIM14662375603810
HP:0001257HP:0001258Spastic paraplegia2MED17 CL E G H9440613668Microcephaly, postnatal progressive, with seizures and brain atrophy613668C3150921OMIM14662375603810
HP:0001257HP:0002478Progressive spastic quadriplegia2MED17 CL E G H9440613668Microcephaly, postnatal progressive, with seizures and brain atrophy613668C3150921OMIM14662375603810
HP:0001257HP:0031957Spastic hemiparetic gait2MED17 CL E G H9440613668Microcephaly, postnatal progressive, with seizures and brain atrophy613668C3150921OMIM14662375603810
HP:0001257HP:0031958Spastic paraparetic gait2MED17 CL E G H9440613668Microcephaly, postnatal progressive, with seizures and brain atrophy613668C3150921OMIM14662375603810
HP:0001257HP:0002313Spastic paraparesis2MED25 CL E G H81857616449Basel-Vanagaite-Smirin-Yosef syndrome616449C4225323OMIM166628845610197
HP:0001257HP:0001258Spastic paraplegia2MED25 CL E G H81857616449Basel-Vanagaite-Smirin-Yosef syndrome616449C4225323OMIM166628845610197
HP:0001257HP:0002478Progressive spastic quadriplegia2MED25 CL E G H81857616449Basel-Vanagaite-Smirin-Yosef syndrome616449C4225323OMIM166628845610197
HP:0001257HP:0031957Spastic hemiparetic gait2MED25 CL E G H81857616449Basel-Vanagaite-Smirin-Yosef syndrome616449C4225323OMIM166628845610197
HP:0001257HP:0031958Spastic paraparetic gait2MED25 CL E G H81857616449Basel-Vanagaite-Smirin-Yosef syndrome616449C4225323OMIM166628845610197
HP:0001257HP:0002313Spastic paraparesis2MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM115524858614785
HP:0001257HP:0001258Spastic paraplegia2MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM115524858614785
HP:0001257HP:0002478Progressive spastic quadriplegia2MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM115524858614785
HP:0001257HP:0031957Spastic hemiparetic gait2MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM115524858614785
HP:0001257HP:0031958Spastic paraparetic gait2MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM115524858614785
HP:0001257HP:0002313Spastic paraparesis2MLC1 CL E G H23209604004Megalencephalic leukoencephalopathy with subcortical cysts 1604004C1858854OMIM167717082605908
HP:0001257HP:0001258Spastic paraplegia2MLC1 CL E G H23209604004Megalencephalic leukoencephalopathy with subcortical cysts 1604004C1858854OMIM167717082605908
HP:0001257HP:0002478Progressive spastic quadriplegia2MLC1 CL E G H23209604004Megalencephalic leukoencephalopathy with subcortical cysts 1604004C1858854OMIM167717082605908
HP:0001257HP:0031957Spastic hemiparetic gait2MLC1 CL E G H23209604004Megalencephalic leukoencephalopathy with subcortical cysts 1604004C1858854OMIM167717082605908
HP:0001257HP:0031958Spastic paraparetic gait2MLC1 CL E G H23209604004Megalencephalic leukoencephalopathy with subcortical cysts 1604004C1858854OMIM167717082605908
HP:0001257HP:0002313Spastic paraparesis2MRPS34 CL E G H65993617664COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32617664C4540029OMIM113816618611994
HP:0001257HP:0001258Spastic paraplegia2MRPS34 CL E G H65993617664COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32617664C4540029OMIM113816618611994
HP:0001257HP:0002478Progressive spastic quadriplegia2MRPS34 CL E G H65993617664COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32617664C4540029OMIM113816618611994
HP:0001257HP:0031957Spastic hemiparetic gait2MRPS34 CL E G H65993617664COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32617664C4540029OMIM113816618611994
HP:0001257HP:0031958Spastic paraparetic gait2MRPS34 CL E G H65993617664COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32617664C4540029OMIM113816618611994
HP:0001257HP:0002313Spastic paraparesis2MT-TF CL E G H4558545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17481590070
HP:0001257HP:0001258Spastic paraplegia2MT-TF CL E G H4558545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17481590070
HP:0001257HP:0002478Progressive spastic quadriplegia2MT-TF CL E G H4558545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17481590070
HP:0001257HP:0031957Spastic hemiparetic gait2MT-TF CL E G H4558545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17481590070
HP:0001257HP:0031958Spastic paraparetic gait2MT-TF CL E G H4558545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17481590070
HP:0001257HP:0002313Spastic paraparesis2MT-TI CL E G H4565545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17488590045
HP:0001257HP:0001258Spastic paraplegia2MT-TI CL E G H4565545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17488590045
HP:0001257HP:0002478Progressive spastic quadriplegia2MT-TI CL E G H4565545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17488590045
HP:0001257HP:0031957Spastic hemiparetic gait2MT-TI CL E G H4565545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17488590045
HP:0001257HP:0031958Spastic paraparetic gait2MT-TI CL E G H4565545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17488590045
HP:0001257HP:0002313Spastic paraparesis2MT-TK CL E G H4566545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17489590060
HP:0001257HP:0001258Spastic paraplegia2MT-TK CL E G H4566545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17489590060
HP:0001257HP:0002478Progressive spastic quadriplegia2MT-TK CL E G H4566545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17489590060
HP:0001257HP:0031957Spastic hemiparetic gait2MT-TK CL E G H4566545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17489590060
HP:0001257HP:0031958Spastic paraparetic gait2MT-TK CL E G H4566545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17489590060
HP:0001257HP:0002313Spastic paraparesis2MT-TL1 CL E G H4567545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17490590050
HP:0001257HP:0001258Spastic paraplegia2MT-TL1 CL E G H4567545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17490590050
HP:0001257HP:0002478Progressive spastic quadriplegia2MT-TL1 CL E G H4567545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17490590050
HP:0001257HP:0031957Spastic hemiparetic gait2MT-TL1 CL E G H4567545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17490590050
HP:0001257HP:0031958Spastic paraparetic gait2MT-TL1 CL E G H4567545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17490590050
HP:0001257HP:0002313Spastic paraparesis2MT-TP CL E G H4571545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17494590075
HP:0001257HP:0001258Spastic paraplegia2MT-TP CL E G H4571545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17494590075
HP:0001257HP:0002478Progressive spastic quadriplegia2MT-TP CL E G H4571545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17494590075
HP:0001257HP:0031957Spastic hemiparetic gait2MT-TP CL E G H4571545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17494590075
HP:0001257HP:0031958Spastic paraparetic gait2MT-TP CL E G H4571545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17494590075
HP:0001257HP:0002313Spastic paraparesis2MTFMT CL E G H123263618248MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27618248OMIM124329666611766
HP:0001257HP:0001258Spastic paraplegia2MTFMT CL E G H123263618248MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27618248OMIM124329666611766
HP:0001257HP:0002478Progressive spastic quadriplegia2MTFMT CL E G H123263618248MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27618248OMIM124329666611766
HP:0001257HP:0031957Spastic hemiparetic gait2MTFMT CL E G H123263618248MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27618248OMIM124329666611766
HP:0001257HP:0031958Spastic paraparetic gait2MTFMT CL E G H123263618248MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27618248OMIM124329666611766
HP:0001257HP:0002313Spastic paraparesis2NACC1 CL E G H112939617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination617393C4479333OMIM134120967610672
HP:0001257HP:0001258Spastic paraplegia2NACC1 CL E G H112939617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination617393C4479333OMIM134120967610672
HP:0001257HP:0002478Progressive spastic quadriplegia2NACC1 CL E G H112939617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination617393C4479333OMIM134120967610672
HP:0001257HP:0031957Spastic hemiparetic gait2NACC1 CL E G H112939617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination617393C4479333OMIM134120967610672
HP:0001257HP:0031958Spastic paraparetic gait2NACC1 CL E G H112939617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination617393C4479333OMIM134120967610672
HP:0001257HP:0002313Spastic paraparesis2NADK2 CL E G H1336866160342,4-Dienoyl-CoA reductase deficiency616034C1857252OMIM122126404615787
HP:0001257HP:0001258Spastic paraplegia2NADK2 CL E G H1336866160342,4-Dienoyl-CoA reductase deficiency616034C1857252OMIM122126404615787
HP:0001257HP:0002478Progressive spastic quadriplegia2NADK2 CL E G H1336866160342,4-Dienoyl-CoA reductase deficiency616034C1857252OMIM122126404615787
HP:0001257HP:0031957Spastic hemiparetic gait2NADK2 CL E G H1336866160342,4-Dienoyl-CoA reductase deficiency616034C1857252OMIM122126404615787
HP:0001257HP:0031958Spastic paraparetic gait2NADK2 CL E G H1336866160342,4-Dienoyl-CoA reductase deficiency616034C1857252OMIM122126404615787
HP:0001257HP:0002313Spastic paraparesis2NAGA CL E G H466879279ORPHA12307631104170
HP:0001257HP:0001258Spastic paraplegia2NAGA CL E G H466879279ORPHA12307631104170
HP:0001257HP:0002478Progressive spastic quadriplegia2NAGA CL E G H466879279ORPHA12307631104170
HP:0001257HP:0031957Spastic hemiparetic gait2NAGA CL E G H466879279ORPHA12307631104170
HP:0001257HP:0031958Spastic paraparetic gait2NAGA CL E G H466879279ORPHA12307631104170
HP:0001257HP:0002313Spastic paraparesis2NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM12307631104170
HP:0001257HP:0001258Spastic paraplegia2NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM12307631104170
HP:0001257HP:0002478Progressive spastic quadriplegia2NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM12307631104170
HP:0001257HP:0031957Spastic hemiparetic gait2NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM12307631104170
HP:0001257HP:0031958Spastic paraparetic gait2NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM12307631104170
HP:0001257HP:0002313Spastic paraparesis2NARS2 CL E G H79731616239Combined oxidative phosphorylation deficiency 24616239C4015643OMIM130226274612803
HP:0001257HP:0001258Spastic paraplegia2NARS2 CL E G H79731616239Combined oxidative phosphorylation deficiency 24616239C4015643OMIM130226274612803
HP:0001257HP:0002478Progressive spastic quadriplegia2NARS2 CL E G H79731616239Combined oxidative phosphorylation deficiency 24616239C4015643OMIM130226274612803
HP:0001257HP:0031957Spastic hemiparetic gait2NARS2 CL E G H79731616239Combined oxidative phosphorylation deficiency 24616239C4015643OMIM130226274612803
HP:0001257HP:0031958Spastic paraparetic gait2NARS2 CL E G H79731616239Combined oxidative phosphorylation deficiency 24616239C4015643OMIM130226274612803
HP:0001257HP:0002313Spastic paraparesis2NDUFA6 CL E G H4700618253MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33618253OMIM1907690602138
HP:0001257HP:0001258Spastic paraplegia2NDUFA6 CL E G H4700618253MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33618253OMIM1907690602138
HP:0001257HP:0002478Progressive spastic quadriplegia2NDUFA6 CL E G H4700618253MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33618253OMIM1907690602138
HP:0001257HP:0031957Spastic hemiparetic gait2NDUFA6 CL E G H4700618253MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33618253OMIM1907690602138
HP:0001257HP:0031958Spastic paraparetic gait2NDUFA6 CL E G H4700618253MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33618253OMIM1907690602138
HP:0001257HP:0002313Spastic paraparesis2NDUFAF5 CL E G H79133618238MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16618238OMIM138315899612360
HP:0001257HP:0001258Spastic paraplegia2NDUFAF5 CL E G H79133618238MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16618238OMIM138315899612360
HP:0001257HP:0002478Progressive spastic quadriplegia2NDUFAF5 CL E G H79133618238MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16618238OMIM138315899612360
HP:0001257HP:0031957Spastic hemiparetic gait2NDUFAF5 CL E G H79133618238MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16618238OMIM138315899612360
HP:0001257HP:0031958Spastic paraparetic gait2NDUFAF5 CL E G H79133618238MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16618238OMIM138315899612360
HP:0001257HP:0002313Spastic paraparesis2NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0001257HP:0001258Spastic paraplegia2NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0001257HP:0002478Progressive spastic quadriplegia2NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0001257HP:0031957Spastic hemiparetic gait2NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0001257HP:0031958Spastic paraparetic gait2NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0001257HP:0002313Spastic paraparesis2NDUFV2 CL E G H4729618229MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7618229OMIM12297717600532
HP:0001257HP:0001258Spastic paraplegia2NDUFV2 CL E G H4729618229MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7618229OMIM12297717600532
HP:0001257HP:0002478Progressive spastic quadriplegia2NDUFV2 CL E G H4729618229MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7618229OMIM12297717600532
HP:0001257HP:0031957Spastic hemiparetic gait2NDUFV2 CL E G H4729618229MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7618229OMIM12297717600532
HP:0001257HP:0031958Spastic paraparetic gait2NDUFV2 CL E G H4729618229MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7618229OMIM12297717600532
HP:0001257HP:0002313Spastic paraparesis2NEFH CL E G H4744803ORPHA17147737162230
HP:0001257HP:0001258Spastic paraplegia2NEFH CL E G H4744803ORPHA17147737162230
HP:0001257HP:0002478Progressive spastic quadriplegia2NEFH CL E G H4744803ORPHA17147737162230
HP:0001257HP:0031957Spastic hemiparetic gait2NEFH CL E G H4744803ORPHA17147737162230
HP:0001257HP:0031958Spastic paraparetic gait2NEFH CL E G H4744803ORPHA17147737162230
HP:0001257HP:0002313Spastic paraparesis2NEK1 CL E G H4750803ORPHA16797744604588
HP:0001257HP:0001258Spastic paraplegia2NEK1 CL E G H4750803ORPHA16797744604588
HP:0001257HP:0002478Progressive spastic quadriplegia2NEK1 CL E G H4750803ORPHA16797744604588
HP:0001257HP:0031957Spastic hemiparetic gait2NEK1 CL E G H4750803ORPHA16797744604588
HP:0001257HP:0031958Spastic paraparetic gait2NEK1 CL E G H4750803ORPHA16797744604588
HP:0001257HP:0002313Spastic paraparesis2NEXMIF CL E G H340533300912Mental retardation, X-linked 98300912C3806730OMIM199029433300524
HP:0001257HP:0001258Spastic paraplegia2NEXMIF CL E G H340533300912Mental retardation, X-linked 98300912C3806730OMIM199029433300524
HP:0001257HP:0002478Progressive spastic quadriplegia2NEXMIF CL E G H340533300912Mental retardation, X-linked 98300912C3806730OMIM199029433300524
HP:0001257HP:0031957Spastic hemiparetic gait2NEXMIF CL E G H340533300912Mental retardation, X-linked 98300912C3806730OMIM199029433300524
HP:0001257HP:0031958Spastic paraparetic gait2NEXMIF CL E G H340533300912Mental retardation, X-linked 98300912C3806730OMIM199029433300524
HP:0001257HP:0002313Spastic paraparesis2NKX6-2 CL E G H84504617560SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY617560C4479653OMIM123319321605955
HP:0001257HP:0001258Spastic paraplegia2NKX6-2 CL E G H84504617560SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY617560C4479653OMIM123319321605955
HP:0001257HP:0002478Progressive spastic quadriplegia2NKX6-2 CL E G H84504617560SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY617560C4479653OMIM123319321605955
HP:0001257HP:0031957Spastic hemiparetic gait2NKX6-2 CL E G H84504617560SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY617560C4479653OMIM123319321605955
HP:0001257HP:0031958Spastic paraparetic gait2NKX6-2 CL E G H84504617560SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY617560C4479653OMIM123319321605955
HP:0001257HP:0002313Spastic paraparesis2NOTCH3 CL E G H4854136ORPHA113437883600276
HP:0001257HP:0001258Spastic paraplegia2NOTCH3 CL E G H4854136ORPHA113437883600276
HP:0001257HP:0002478Progressive spastic quadriplegia2NOTCH3 CL E G H4854136ORPHA113437883600276
HP:0001257HP:0031957Spastic hemiparetic gait2NOTCH3 CL E G H4854136ORPHA113437883600276
HP:0001257HP:0031958Spastic paraparetic gait2NOTCH3 CL E G H4854136ORPHA113437883600276
HP:0001257HP:0002313Spastic paraparesis2NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM121097897607623
HP:0001257HP:0001258Spastic paraplegia2NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM121097897607623
HP:0001257HP:0002478Progressive spastic quadriplegia2NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM121097897607623
HP:0001257HP:0031957Spastic hemiparetic gait2NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM121097897607623
HP:0001257HP:0031958Spastic paraparetic gait2NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM121097897607623
HP:0001257HP:0002313Spastic paraparesis2NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM123214537601015
HP:0001257HP:0001258Spastic paraplegia2NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM123214537601015
HP:0001257HP:0002478Progressive spastic quadriplegia2NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM123214537601015
HP:0001257HP:0031957Spastic hemiparetic gait2NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM123214537601015
HP:0001257HP:0031958Spastic paraparetic gait2NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM123214537601015
HP:0001257HP:0002313Spastic paraparesis2NSD1 CL E G H643243447ORPHA1173414234606681
HP:0001257HP:0001258Spastic paraplegia2NSD1 CL E G H643243447ORPHA1173414234606681
HP:0001257HP:0002478Progressive spastic quadriplegia2NSD1 CL E G H643243447ORPHA1173414234606681
HP:0001257HP:0031957Spastic hemiparetic gait2NSD1 CL E G H643243447ORPHA1173414234606681
HP:0001257HP:0031958Spastic paraparetic gait2NSD1 CL E G H643243447ORPHA1173414234606681
HP:0001257HP:0002313Spastic paraparesis2NSUN2 CL E G H54888611091Mental retardation, autosomal recessive 5611091C1970199OMIM156625994610916
HP:0001257HP:0001258Spastic paraplegia2NSUN2 CL E G H54888611091Mental retardation, autosomal recessive 5611091C1970199OMIM156625994610916
HP:0001257HP:0002478Progressive spastic quadriplegia2NSUN2 CL E G H54888611091Mental retardation, autosomal recessive 5611091C1970199OMIM156625994610916
HP:0001257HP:0031957Spastic hemiparetic gait2NSUN2 CL E G H54888611091Mental retardation, autosomal recessive 5611091C1970199OMIM156625994610916
HP:0001257HP:0031958Spastic paraparetic gait2NSUN2 CL E G H54888611091Mental retardation, autosomal recessive 5611091C1970199OMIM156625994610916
HP:0001257HP:0002313Spastic paraparesis2NTNG1 CL E G H228543095ORPHA15723319608818
HP:0001257HP:0001258Spastic paraplegia2NTNG1 CL E G H228543095ORPHA15723319608818
HP:0001257HP:0002478Progressive spastic quadriplegia2NTNG1 CL E G H228543095ORPHA15723319608818
HP:0001257HP:0031957Spastic hemiparetic gait2NTNG1 CL E G H228543095ORPHA15723319608818
HP:0001257HP:0031958Spastic paraparetic gait2NTNG1 CL E G H228543095ORPHA15723319608818
HP:0001257HP:0002313Spastic paraparesis2NUBPL CL E G H80224618242MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21618242OMIM128420278613621
HP:0001257HP:0001258Spastic paraplegia2NUBPL CL E G H80224618242MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21618242OMIM128420278613621
HP:0001257HP:0002478Progressive spastic quadriplegia2NUBPL CL E G H80224618242MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21618242OMIM128420278613621
HP:0001257HP:0031957Spastic hemiparetic gait2NUBPL CL E G H80224618242MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21618242OMIM128420278613621
HP:0001257HP:0031958Spastic paraparetic gait2NUBPL CL E G H80224618242MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21618242OMIM128420278613621
HP:0001257HP:0002313Spastic paraparesis2NUP62 CL E G H23636271930Striatonigral degeneration infantile271930C0795996OMIM11618066605815
HP:0001257HP:0001258Spastic paraplegia2NUP62 CL E G H23636271930Striatonigral degeneration infantile271930C0795996OMIM11618066605815
HP:0001257HP:0002478Progressive spastic quadriplegia2NUP62 CL E G H23636271930Striatonigral degeneration infantile271930C0795996OMIM11618066605815
HP:0001257HP:0031957Spastic hemiparetic gait2NUP62 CL E G H23636271930Striatonigral degeneration infantile271930C0795996OMIM11618066605815
HP:0001257HP:0031958Spastic paraparetic gait2NUP62 CL E G H23636271930Striatonigral degeneration infantile271930C0795996OMIM11618066605815
HP:0001257HP:0002313Spastic paraparesis2NUS1 CL E G H116150617082CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa617082C4310727OMIM132621042610463
HP:0001257HP:0001258Spastic paraplegia2NUS1 CL E G H116150617082CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa617082C4310727OMIM132621042610463
HP:0001257HP:0002478Progressive spastic quadriplegia2NUS1 CL E G H116150617082CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa617082C4310727OMIM132621042610463
HP:0001257HP:0031957Spastic hemiparetic gait2NUS1 CL E G H116150617082CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa617082C4310727OMIM132621042610463
HP:0001257HP:0031958Spastic paraparetic gait2NUS1 CL E G H116150617082CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa617082C4310727OMIM132621042610463
HP:0001257HP:0002313Spastic paraparesis2OCLN CL E G H1005066581229ORPHA11388104602876
HP:0001257HP:0001258Spastic paraplegia2OCLN CL E G H1005066581229ORPHA11388104602876
HP:0001257HP:0002478Progressive spastic quadriplegia2OCLN CL E G H1005066581229ORPHA11388104602876
HP:0001257HP:0031957Spastic hemiparetic gait2OCLN CL E G H1005066581229ORPHA11388104602876
HP:0001257HP:0031958Spastic paraparetic gait2OCLN CL E G H1005066581229ORPHA11388104602876
HP:0001257HP:0002313Spastic paraparesis2OCLN CL E G H100506658251290Band-like calcification with simplified gyration and polymicrogyria251290C3489725OMIM11388104602876
HP:0001257HP:0001258Spastic paraplegia2OCLN CL E G H100506658251290Band-like calcification with simplified gyration and polymicrogyria251290C3489725OMIM11388104602876
HP:0001257HP:0002478Progressive spastic quadriplegia2OCLN CL E G H100506658251290Band-like calcification with simplified gyration and polymicrogyria251290C3489725OMIM11388104602876
HP:0001257HP:0031957Spastic hemiparetic gait2OCLN CL E G H100506658251290Band-like calcification with simplified gyration and polymicrogyria251290C3489725OMIM11388104602876
HP:0001257HP:0031958Spastic paraparetic gait2OCLN CL E G H100506658251290Band-like calcification with simplified gyration and polymicrogyria251290C3489725OMIM11388104602876
HP:0001257HP:0002313Spastic paraparesis2OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM15238142606580
HP:0001257HP:0001258Spastic paraplegia2OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM15238142606580
HP:0001257HP:0002478Progressive spastic quadriplegia2OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM15238142606580
HP:0001257HP:0031957Spastic hemiparetic gait2OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM15238142606580
HP:0001257HP:0031958Spastic paraparetic gait2OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM15238142606580
HP:0001257HP:0002313Spastic paraparesis2OPHN1 CL E G H4983300486Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance300486C1845366OMIM14758148300127
HP:0001257HP:0001258Spastic paraplegia2OPHN1 CL E G H4983300486Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance300486C1845366OMIM14758148300127
HP:0001257HP:0002478Progressive spastic quadriplegia2OPHN1 CL E G H4983300486Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance300486C1845366OMIM14758148300127
HP:0001257HP:0031957Spastic hemiparetic gait2OPHN1 CL E G H4983300486Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance300486C1845366OMIM14758148300127
HP:0001257HP:0031958Spastic paraparetic gait2OPHN1 CL E G H4983300486Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance300486C1845366OMIM14758148300127
HP:0001257HP:0002313Spastic paraparesis2OPTN CL E G H10133803ORPHA142817142602432
HP:0001257HP:0001258Spastic paraplegia2OPTN CL E G H10133803ORPHA142817142602432
HP:0001257HP:0002478Progressive spastic quadriplegia2OPTN CL E G H10133803ORPHA142817142602432
HP:0001257HP:0031957Spastic hemiparetic gait2OPTN CL E G H10133803ORPHA142817142602432
HP:0001257HP:0031958Spastic paraparetic gait2OPTN CL E G H10133803ORPHA142817142602432
HP:0001257HP:0002313Spastic paraparesis2OSGEP CL E G H55644617729GALLOWAY-MOWAT SYNDROME 3617729C4540266OMIM115218028610107
HP:0001257HP:0001258Spastic paraplegia2OSGEP CL E G H55644617729GALLOWAY-MOWAT SYNDROME 3617729C4540266OMIM115218028610107
HP:0001257HP:0002478Progressive spastic quadriplegia2OSGEP CL E G H55644617729GALLOWAY-MOWAT SYNDROME 3617729C4540266OMIM115218028610107
HP:0001257HP:0031957Spastic hemiparetic gait2OSGEP CL E G H55644617729GALLOWAY-MOWAT SYNDROME 3617729C4540266OMIM115218028610107
HP:0001257HP:0031958Spastic paraparetic gait2OSGEP CL E G H55644617729GALLOWAY-MOWAT SYNDROME 3617729C4540266OMIM115218028610107
HP:0001257HP:0002313Spastic paraparesis2PANK2 CL E G H80025216873ORPHA149915894606157
HP:0001257HP:0001258Spastic paraplegia2PANK2 CL E G H80025216873ORPHA149915894606157
HP:0001257HP:0002478Progressive spastic quadriplegia2PANK2 CL E G H80025216873ORPHA149915894606157
HP:0001257HP:0031957Spastic hemiparetic gait2PANK2 CL E G H80025216873ORPHA149915894606157
HP:0001257HP:0031958Spastic paraparetic gait2PANK2 CL E G H80025216873ORPHA149915894606157
HP:0001257HP:0002313Spastic paraparesis2PANK2 CL E G H80025607236Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration607236C1846582OMIM149915894606157
HP:0001257HP:0001258Spastic paraplegia2PANK2 CL E G H80025607236Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration607236C1846582OMIM149915894606157
HP:0001257HP:0002478Progressive spastic quadriplegia2PANK2 CL E G H80025607236Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration607236C1846582OMIM149915894606157
HP:0001257HP:0031957Spastic hemiparetic gait2PANK2 CL E G H80025607236Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration607236C1846582OMIM149915894606157
HP:0001257HP:0031958Spastic paraparetic gait2PANK2 CL E G H80025607236Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration607236C1846582OMIM149915894606157
HP:0001257HP:0002313Spastic paraparesis2PANK2 CL E G H80025234200Pigmentary pallidal degeneration234200C0018523OMIM149915894606157
HP:0001257HP:0001258Spastic paraplegia2PANK2 CL E G H80025234200Pigmentary pallidal degeneration234200C0018523OMIM149915894606157
HP:0001257HP:0002478Progressive spastic quadriplegia2PANK2 CL E G H80025234200Pigmentary pallidal degeneration234200C0018523OMIM149915894606157
HP:0001257HP:0031957Spastic hemiparetic gait2PANK2 CL E G H80025234200Pigmentary pallidal degeneration234200C0018523OMIM149915894606157
HP:0001257HP:0031958Spastic paraparetic gait2PANK2 CL E G H80025234200Pigmentary pallidal degeneration234200C0018523OMIM149915894606157
HP:0001257HP:0002313Spastic paraparesis2PCLO CL E G H27445608027Pontocerebellar hypoplasia type 3608027C1842687OMIM1243013406604918
HP:0001257HP:0001258Spastic paraplegia2PCLO CL E G H27445608027Pontocerebellar hypoplasia type 3608027C1842687OMIM1243013406604918
HP:0001257HP:0002478Progressive spastic quadriplegia2PCLO CL E G H27445608027Pontocerebellar hypoplasia type 3608027C1842687OMIM1243013406604918
HP:0001257HP:0031957Spastic hemiparetic gait2PCLO CL E G H27445608027Pontocerebellar hypoplasia type 3608027C1842687OMIM1243013406604918
HP:0001257HP:0031958Spastic paraparetic gait2PCLO CL E G H27445608027Pontocerebellar hypoplasia type 3608027C1842687OMIM1243013406604918
HP:0001257HP:0002313Spastic paraparesis2PEX1 CL E G H5189772ORPHA115378850602136
HP:0001257HP:0001258Spastic paraplegia2PEX1 CL E G H5189772ORPHA115378850602136
HP:0001257HP:0002478Progressive spastic quadriplegia2PEX1 CL E G H5189772ORPHA115378850602136
HP:0001257HP:0031957Spastic hemiparetic gait2PEX1 CL E G H5189772ORPHA115378850602136
HP:0001257HP:0031958Spastic paraparetic gait2PEX1 CL E G H5189772ORPHA115378850602136
HP:0001257HP:0002313Spastic paraparesis2PEX10 CL E G H5192772ORPHA18038851602859
HP:0001257HP:0001258Spastic paraplegia2PEX10 CL E G H5192772ORPHA18038851602859
HP:0001257HP:0002478Progressive spastic quadriplegia2PEX10 CL E G H5192772ORPHA18038851602859
HP:0001257HP:0031957Spastic hemiparetic gait2PEX10 CL E G H5192772ORPHA18038851602859
HP:0001257HP:0031958Spastic paraparetic gait2PEX10 CL E G H5192772ORPHA18038851602859
HP:0001257HP:0002313Spastic paraparesis2PEX11B CL E G H8799772ORPHA14158853603867
HP:0001257HP:0001258Spastic paraplegia2PEX11B CL E G H8799772ORPHA14158853603867
HP:0001257HP:0002478Progressive spastic quadriplegia2PEX11B CL E G H8799772ORPHA14158853603867
HP:0001257HP:0031957Spastic hemiparetic gait2PEX11B CL E G H8799772ORPHA14158853603867
HP:0001257HP:0031958Spastic paraparetic gait2PEX11B CL E G H8799772ORPHA14158853603867
HP:0001257HP:0002313Spastic paraparesis2PEX12 CL E G H5193772ORPHA14598854601758
HP:0001257HP:0001258Spastic paraplegia2PEX12 CL E G H5193772ORPHA14598854601758
HP:0001257HP:0002478Progressive spastic quadriplegia2PEX12 CL E G H5193772ORPHA14598854601758
HP:0001257HP:0031957Spastic hemiparetic gait2PEX12 CL E G H5193772ORPHA14598854601758
HP:0001257HP:0031958Spastic paraparetic gait2PEX12 CL E G H5193772ORPHA14598854601758
HP:0001257HP:0002313Spastic paraparesis2PEX13 CL E G H5194772ORPHA14978855601789
HP:0001257HP:0001258Spastic paraplegia2PEX13 CL E G H5194772ORPHA14978855601789
HP:0001257HP:0002478Progressive spastic quadriplegia2PEX13 CL E G H5194772ORPHA14978855601789
HP:0001257HP:0031957Spastic hemiparetic gait2PEX13 CL E G H5194772ORPHA14978855601789
HP:0001257HP:0031958Spastic paraparetic gait2PEX13 CL E G H5194772ORPHA14978855601789
HP:0001257HP:0002313Spastic paraparesis2PEX14 CL E G H5195772ORPHA14748856601791
HP:0001257HP:0001258Spastic paraplegia2PEX14 CL E G H5195772ORPHA14748856601791
HP:0001257HP:0002478Progressive spastic quadriplegia2PEX14 CL E G H5195772ORPHA14748856601791
HP:0001257HP:0031957Spastic hemiparetic gait2PEX14 CL E G H5195772ORPHA14748856601791
HP:0001257HP:0031958Spastic paraparetic gait2PEX14 CL E G H5195772ORPHA14748856601791
HP:0001257HP:0002313Spastic paraparesis2PEX16 CL E G H9409772ORPHA14708857603360
HP:0001257HP:0001258Spastic paraplegia2PEX16 CL E G H9409772ORPHA14708857603360
HP:0001257HP:0002478Progressive spastic quadriplegia2PEX16 CL E G H9409772ORPHA14708857603360
HP:0001257HP:0031957Spastic hemiparetic gait2PEX16 CL E G H9409772ORPHA14708857603360
HP:0001257HP:0031958Spastic paraparetic gait2PEX16 CL E G H9409772ORPHA14708857603360
HP:0001257HP:0002313Spastic paraparesis2PEX19 CL E G H5824772ORPHA13799713600279
HP:0001257HP:0001258Spastic paraplegia2PEX19 CL E G H5824772ORPHA13799713600279
HP:0001257HP:0002478Progressive spastic quadriplegia2PEX19 CL E G H5824772ORPHA13799713600279
HP:0001257HP:0031957Spastic hemiparetic gait2PEX19 CL E G H5824772ORPHA13799713600279
HP:0001257HP:0031958Spastic paraparetic gait2PEX19 CL E G H5824772ORPHA13799713600279
HP:0001257HP:0002313Spastic paraparesis2PEX2 CL E G H5828772ORPHA14639717170993
HP:0001257HP:0001258Spastic paraplegia2PEX2 CL E G H5828772ORPHA14639717170993
HP:0001257HP:0002478Progressive spastic quadriplegia2PEX2 CL E G H5828772ORPHA14639717170993
HP:0001257HP:0031957Spastic hemiparetic gait2PEX2 CL E G H5828772ORPHA14639717170993
HP:0001257HP:0031958Spastic paraparetic gait2PEX2 CL E G H5828772ORPHA14639717170993
HP:0001257HP:0002313Spastic paraparesis2PEX26 CL E G H55670772ORPHA152222965608666
HP:0001257HP:0001258Spastic paraplegia2PEX26 CL E G H55670772ORPHA152222965608666
HP:0001257HP:0002478Progressive spastic quadriplegia2PEX26 CL E G H55670772ORPHA152222965608666
HP:0001257HP:0031957Spastic hemiparetic gait2PEX26 CL E G H55670772ORPHA152222965608666
HP:0001257HP:0031958Spastic paraparetic gait2PEX26 CL E G H55670772ORPHA152222965608666
HP:0001257HP:0002313Spastic paraparesis2PEX3 CL E G H8504772ORPHA13588858603164
HP:0001257HP:0001258Spastic paraplegia2PEX3 CL E G H8504772ORPHA13588858603164
HP:0001257HP:0002478Progressive spastic quadriplegia2PEX3 CL E G H8504772ORPHA13588858603164
HP:0001257HP:0031957Spastic hemiparetic gait2PEX3 CL E G H8504772ORPHA13588858603164
HP:0001257HP:0031958Spastic paraparetic gait2PEX3 CL E G H8504772ORPHA13588858603164
HP:0001257HP:0002313Spastic paraparesis2PEX5 CL E G H5830772ORPHA18589719600414
HP:0001257HP:0001258Spastic paraplegia2PEX5 CL E G H5830772ORPHA18589719600414
HP:0001257HP:0002478Progressive spastic quadriplegia2PEX5 CL E G H5830772ORPHA18589719600414
HP:0001257HP:0031957Spastic hemiparetic gait2PEX5 CL E G H5830772ORPHA18589719600414
HP:0001257HP:0031958Spastic paraparetic gait2PEX5 CL E G H5830772ORPHA18589719600414
HP:0001257HP:0002313Spastic paraparesis2PEX6 CL E G H5190772ORPHA114588859601498
HP:0001257HP:0001258Spastic paraplegia2PEX6 CL E G H5190772ORPHA114588859601498
HP:0001257HP:0002478Progressive spastic quadriplegia2PEX6 CL E G H5190772ORPHA114588859601498
HP:0001257HP:0031957Spastic hemiparetic gait2PEX6 CL E G H5190772ORPHA114588859601498
HP:0001257HP:0031958Spastic paraparetic gait2PEX6 CL E G H5190772ORPHA114588859601498
HP:0001257HP:0002313Spastic paraparesis2PEX7 CL E G H5191215100Rhizomelic chondrodysplasia punctata type 1215100C1859133OMIM15508860601757
HP:0001257HP:0001258Spastic paraplegia2PEX7 CL E G H5191215100Rhizomelic chondrodysplasia punctata type 1215100C1859133OMIM15508860601757
HP:0001257HP:0002478Progressive spastic quadriplegia2PEX7 CL E G H5191215100Rhizomelic chondrodysplasia punctata type 1215100C1859133OMIM15508860601757
HP:0001257HP:0031957Spastic hemiparetic gait2PEX7 CL E G H5191215100Rhizomelic chondrodysplasia punctata type 1215100C1859133OMIM15508860601757
HP:0001257HP:0031958Spastic paraparetic gait2PEX7 CL E G H5191215100Rhizomelic chondrodysplasia punctata type 1215100C1859133OMIM15508860601757
HP:0001257HP:0002313Spastic paraparesis2PFN1 CL E G H5216803ORPHA11018881176610
HP:0001257HP:0001258Spastic paraplegia2PFN1 CL E G H5216803ORPHA11018881176610
HP:0001257HP:0002478Progressive spastic quadriplegia2PFN1 CL E G H5216803ORPHA11018881176610
HP:0001257HP:0031957Spastic hemiparetic gait2PFN1 CL E G H5216803ORPHA11018881176610
HP:0001257HP:0031958Spastic paraparetic gait2PFN1 CL E G H5216803ORPHA11018881176610
HP:0001257HP:0002313Spastic paraparesis2PFN1 CL E G H5216614808Amyotrophic lateral sclerosis 18614808C3553719OMIM11018881176610
HP:0001257HP:0001258Spastic paraplegia2PFN1 CL E G H5216614808Amyotrophic lateral sclerosis 18614808C3553719OMIM11018881176610
HP:0001257HP:0002478Progressive spastic quadriplegia2PFN1 CL E G H5216614808Amyotrophic lateral sclerosis 18614808C3553719OMIM11018881176610
HP:0001257HP:0031957Spastic hemiparetic gait2PFN1 CL E G H5216614808Amyotrophic lateral sclerosis 18614808C3553719OMIM11018881176610
HP:0001257HP:0031958Spastic paraparetic gait2PFN1 CL E G H5216614808Amyotrophic lateral sclerosis 18614808C3553719OMIM11018881176610
HP:0001257HP:0002313Spastic paraparesis2PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM14838957311770
HP:0001257HP:0001258Spastic paraplegia2PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM14838957311770
HP:0001257HP:0002478Progressive spastic quadriplegia2PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM14838957311770
HP:0001257HP:0031957Spastic hemiparetic gait2PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM14838957311770
HP:0001257HP:0031958Spastic paraparetic gait2PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM14838957311770
HP:0001257HP:0002313Spastic paraparesis2PIGN CL E G H23556614080Multiple congenital anomalies-hypotonia-seizures syndrome 1614080C3279775OMIM110108967606097
HP:0001257HP:0001258Spastic paraplegia2PIGN CL E G H23556614080Multiple congenital anomalies-hypotonia-seizures syndrome 1614080C3279775OMIM110108967606097
HP:0001257HP:0002478Progressive spastic quadriplegia2PIGN CL E G H23556614080Multiple congenital anomalies-hypotonia-seizures syndrome 1614080C3279775OMIM110108967606097
HP:0001257HP:0031957Spastic hemiparetic gait2PIGN CL E G H23556614080Multiple congenital anomalies-hypotonia-seizures syndrome 1614080C3279775OMIM110108967606097
HP:0001257HP:0031958Spastic paraparetic gait2PIGN CL E G H23556614080Multiple congenital anomalies-hypotonia-seizures syndrome 1614080C3279775OMIM110108967606097
HP:0001257HP:0002313Spastic paraparesis2PLA2G6 CL E G H8398199351ORPHA17759039603604
HP:0001257HP:0001258Spastic paraplegia2PLA2G6 CL E G H8398199351ORPHA17759039603604
HP:0001257HP:0002478Progressive spastic quadriplegia2PLA2G6 CL E G H8398199351ORPHA17759039603604
HP:0001257HP:0031957Spastic hemiparetic gait2PLA2G6 CL E G H8398199351ORPHA17759039603604
HP:0001257HP:0031958Spastic paraparetic gait2PLA2G6 CL E G H8398199351ORPHA17759039603604
HP:0001257HP:0002313Spastic paraparesis2PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001257HP:0001258Spastic paraplegia2PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001257HP:0002478Progressive spastic quadriplegia2PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001257HP:0031957Spastic hemiparetic gait2PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001257HP:0031958Spastic paraparetic gait2PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001257HP:0002313Spastic paraparesis2PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM17759039603604
HP:0001257HP:0001258Spastic paraplegia2PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM17759039603604
HP:0001257HP:0002478Progressive spastic quadriplegia2PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM17759039603604
HP:0001257HP:0031957Spastic hemiparetic gait2PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM17759039603604
HP:0001257HP:0031958Spastic paraparetic gait2PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM17759039603604
HP:0001257HP:0002313Spastic paraparesis2PLCB1 CL E G H23236613722Early infantile epileptic encephalopathy 12613722C3150988OMIM1110715917607120
HP:0001257HP:0001258Spastic paraplegia2PLCB1 CL E G H23236613722Early infantile epileptic encephalopathy 12613722C3150988OMIM1110715917607120
HP:0001257HP:0002478Progressive spastic quadriplegia2PLCB1 CL E G H23236613722Early infantile epileptic encephalopathy 12613722C3150988OMIM1110715917607120
HP:0001257HP:0031957Spastic hemiparetic gait2PLCB1 CL E G H23236613722Early infantile epileptic encephalopathy 12613722C3150988OMIM1110715917607120
HP:0001257HP:0031958Spastic paraparetic gait2PLCB1 CL E G H23236613722Early infantile epileptic encephalopathy 12613722C3150988OMIM1110715917607120
HP:0001257HP:0002313Spastic paraparesis2PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM120518667613036
HP:0001257HP:0001258Spastic paraplegia2PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM120518667613036
HP:0001257HP:0002478Progressive spastic quadriplegia2PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM120518667613036
HP:0001257HP:0031957Spastic hemiparetic gait2PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM120518667613036
HP:0001257HP:0031958Spastic paraparetic gait2PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM120518667613036
HP:0001257HP:0002313Spastic paraparesis2PMPCB CL E G H9512617954MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6617954CN244567OMIM11339119603131
HP:0001257HP:0001258Spastic paraplegia2PMPCB CL E G H9512617954MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6617954CN244567OMIM11339119603131
HP:0001257HP:0002478Progressive spastic quadriplegia2PMPCB CL E G H9512617954MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6617954CN244567OMIM11339119603131
HP:0001257HP:0031957Spastic hemiparetic gait2PMPCB CL E G H9512617954MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6617954CN244567OMIM11339119603131
HP:0001257HP:0031958Spastic paraparetic gait2PMPCB CL E G H9512617954MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6617954CN244567OMIM11339119603131
HP:0001257HP:0002313Spastic paraparesis2PNPLA8 CL E G H50640251950Mitochondrial myopathy with lactic acidosis251950C1855033OMIM127128900612123
HP:0001257HP:0001258Spastic paraplegia2PNPLA8 CL E G H50640251950Mitochondrial myopathy with lactic acidosis251950C1855033OMIM127128900612123
HP:0001257HP:0002478Progressive spastic quadriplegia2PNPLA8 CL E G H50640251950Mitochondrial myopathy with lactic acidosis251950C1855033OMIM127128900612123
HP:0001257HP:0031957Spastic hemiparetic gait2PNPLA8 CL E G H50640251950Mitochondrial myopathy with lactic acidosis251950C1855033OMIM127128900612123
HP:0001257HP:0031958Spastic paraparetic gait2PNPLA8 CL E G H50640251950Mitochondrial myopathy with lactic acidosis251950C1855033OMIM127128900612123
HP:0001257HP:0002313Spastic paraparesis2POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM1102530074614258
HP:0001257HP:0001258Spastic paraplegia2POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM1102530074614258
HP:0001257HP:0002478Progressive spastic quadriplegia2POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM1102530074614258
HP:0001257HP:0031957Spastic hemiparetic gait2POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM1102530074614258
HP:0001257HP:0031958Spastic paraparetic gait2POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM1102530074614258
HP:0001257HP:0002313Spastic paraparesis2POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM151030348614366
HP:0001257HP:0001258Spastic paraplegia2POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM151030348614366
HP:0001257HP:0002478Progressive spastic quadriplegia2POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM151030348614366
HP:0001257HP:0031957Spastic hemiparetic gait2POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM151030348614366
HP:0001257HP:0031958Spastic paraparetic gait2POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM151030348614366
HP:0001257HP:0002313Spastic paraparesis2POLR3B CL E G H55703614381Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism614381C3280644OMIM151030348614366
HP:0001257HP:0001258Spastic paraplegia2POLR3B CL E G H55703614381Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism614381C3280644OMIM151030348614366
HP:0001257HP:0002478Progressive spastic quadriplegia2POLR3B CL E G H55703614381Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism614381C3280644OMIM151030348614366
HP:0001257HP:0031957Spastic hemiparetic gait2POLR3B CL E G H55703614381Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism614381C3280644OMIM151030348614366
HP:0001257HP:0031958Spastic paraparetic gait2POLR3B CL E G H55703614381Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism614381C3280644OMIM151030348614366
HP:0001257HP:0002313Spastic paraparesis2POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM1117419139606822
HP:0001257HP:0001258Spastic paraplegia2POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM1117419139606822
HP:0001257HP:0002478Progressive spastic quadriplegia2POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM1117419139606822
HP:0001257HP:0031957Spastic hemiparetic gait2POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM1117419139606822
HP:0001257HP:0031958Spastic paraparetic gait2POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM1117419139606822
HP:0001257HP:0002313Spastic paraparesis2PON1 CL E G H5444803ORPHA1659204168820
HP:0001257HP:0001258Spastic paraplegia2PON1 CL E G H5444803ORPHA1659204168820
HP:0001257HP:0002478Progressive spastic quadriplegia2PON1 CL E G H5444803ORPHA1659204168820
HP:0001257HP:0031957Spastic hemiparetic gait2PON1 CL E G H5444803ORPHA1659204168820
HP:0001257HP:0031958Spastic paraparetic gait2PON1 CL E G H5444803ORPHA1659204168820
HP:0001257HP:0002313Spastic paraparesis2PON2 CL E G H5445803ORPHA1689205602447
HP:0001257HP:0001258Spastic paraplegia2PON2 CL E G H5445803ORPHA1689205602447
HP:0001257HP:0002478Progressive spastic quadriplegia2PON2 CL E G H5445803ORPHA1689205602447
HP:0001257HP:0031957Spastic hemiparetic gait2PON2 CL E G H5445803ORPHA1689205602447
HP:0001257HP:0031958Spastic paraparetic gait2PON2 CL E G H5445803ORPHA1689205602447
HP:0001257HP:0002313Spastic paraparesis2PON3 CL E G H5446803ORPHA1629206602720
HP:0001257HP:0001258Spastic paraplegia2PON3 CL E G H5446803ORPHA1629206602720
HP:0001257HP:0002478Progressive spastic quadriplegia2PON3 CL E G H5446803ORPHA1629206602720
HP:0001257HP:0031957Spastic hemiparetic gait2PON3 CL E G H5446803ORPHA1629206602720
HP:0001257HP:0031958Spastic paraparetic gait2PON3 CL E G H5446803ORPHA1629206602720
HP:0001257HP:0002313Spastic paraparesis2PPARGC1A CL E G H10891803ORPHA1719237604517
HP:0001257HP:0001258Spastic paraplegia2PPARGC1A CL E G H10891803ORPHA1719237604517
HP:0001257HP:0002478Progressive spastic quadriplegia2PPARGC1A CL E G H10891803ORPHA1719237604517
HP:0001257HP:0031957Spastic hemiparetic gait2PPARGC1A CL E G H10891803ORPHA1719237604517
HP:0001257HP:0031958Spastic paraparetic gait2PPARGC1A CL E G H10891803ORPHA1719237604517
HP:0001257HP:0002313Spastic paraparesis2PPP1R15B CL E G H84919616817Microcephaly, short stature, and impaired glucose metabolism 2616817C4225195OMIM113414951613257
HP:0001257HP:0001258Spastic paraplegia2PPP1R15B CL E G H84919616817Microcephaly, short stature, and impaired glucose metabolism 2616817C4225195OMIM113414951613257
HP:0001257HP:0002478Progressive spastic quadriplegia2PPP1R15B CL E G H84919616817Microcephaly, short stature, and impaired glucose metabolism 2616817C4225195OMIM113414951613257
HP:0001257HP:0031957Spastic hemiparetic gait2PPP1R15B CL E G H84919616817Microcephaly, short stature, and impaired glucose metabolism 2616817C4225195OMIM113414951613257
HP:0001257HP:0031958Spastic paraparetic gait2PPP1R15B CL E G H84919616817Microcephaly, short stature, and impaired glucose metabolism 2616817C4225195OMIM113414951613257
HP:0001257HP:0002313Spastic paraparesis2PPT1 CL E G H5538256730Ceroid lipofuscinosis neuronal 1256730C1850451OMIM16179325600722
HP:0001257HP:0001258Spastic paraplegia2PPT1 CL E G H5538256730Ceroid lipofuscinosis neuronal 1256730C1850451OMIM16179325600722
HP:0001257HP:0002478Progressive spastic quadriplegia2PPT1 CL E G H5538256730Ceroid lipofuscinosis neuronal 1256730C1850451OMIM16179325600722
HP:0001257HP:0031957Spastic hemiparetic gait2PPT1 CL E G H5538256730Ceroid lipofuscinosis neuronal 1256730C1850451OMIM16179325600722
HP:0001257HP:0031958Spastic paraparetic gait2PPT1 CL E G H5538256730Ceroid lipofuscinosis neuronal 1256730C1850451OMIM16179325600722
HP:0001257HP:0002313Spastic paraparesis2PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM13099330300463
HP:0001257HP:0001258Spastic paraplegia2PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM13099330300463
HP:0001257HP:0002478Progressive spastic quadriplegia2PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM13099330300463
HP:0001257HP:0031957Spastic hemiparetic gait2PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM13099330300463
HP:0001257HP:0031958Spastic paraparetic gait2PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM13099330300463
HP:0001257HP:0002313Spastic paraparesis2PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11919449176640
HP:0001257HP:0001258Spastic paraplegia2PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11919449176640
HP:0001257HP:0002478Progressive spastic quadriplegia2PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11919449176640
HP:0001257HP:0031957Spastic hemiparetic gait2PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11919449176640
HP:0001257HP:0031958Spastic paraparetic gait2PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11919449176640
HP:0001257HP:0002313Spastic paraparesis2PRPH CL E G H5630803ORPHA1769461170710
HP:0001257HP:0001258Spastic paraplegia2PRPH CL E G H5630803ORPHA1769461170710
HP:0001257HP:0002478Progressive spastic quadriplegia2PRPH CL E G H5630803ORPHA1769461170710
HP:0001257HP:0031957Spastic hemiparetic gait2PRPH CL E G H5630803ORPHA1769461170710
HP:0001257HP:0031958Spastic paraparetic gait2PRPH CL E G H5630803ORPHA1769461170710
HP:0001257HP:0002313Spastic paraparesis2PUM1 CL E G H9698617931SPINOCEREBELLAR ATAXIA 47617931CN244564OMIM117514957607204
HP:0001257HP:0001258Spastic paraplegia2PUM1 CL E G H9698617931SPINOCEREBELLAR ATAXIA 47617931CN244564OMIM117514957607204
HP:0001257HP:0002478Progressive spastic quadriplegia2PUM1 CL E G H9698617931SPINOCEREBELLAR ATAXIA 47617931CN244564OMIM117514957607204
HP:0001257HP:0031957Spastic hemiparetic gait2PUM1 CL E G H9698617931SPINOCEREBELLAR ATAXIA 47617931CN244564OMIM117514957607204
HP:0001257HP:0031958Spastic paraparetic gait2PUM1 CL E G H9698617931SPINOCEREBELLAR ATAXIA 47617931CN244564OMIM117514957607204
HP:0001257HP:0002313Spastic paraparesis2PYCR2 CL E G H29920616420Leukodystrophy, hypomyelinating, 10616420C4225332OMIM114330262616406
HP:0001257HP:0001258Spastic paraplegia2PYCR2 CL E G H29920616420Leukodystrophy, hypomyelinating, 10616420C4225332OMIM114330262616406
HP:0001257HP:0002478Progressive spastic quadriplegia2PYCR2 CL E G H29920616420Leukodystrophy, hypomyelinating, 10616420C4225332OMIM114330262616406
HP:0001257HP:0031957Spastic hemiparetic gait2PYCR2 CL E G H29920616420Leukodystrophy, hypomyelinating, 10616420C4225332OMIM114330262616406
HP:0001257HP:0031958Spastic paraparetic gait2PYCR2 CL E G H29920616420Leukodystrophy, hypomyelinating, 10616420C4225332OMIM114330262616406
HP:0001257HP:0002313Spastic paraparesis2RAB11B CL E G H9230617807NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER617807C4540498OMIM11619761604198
HP:0001257HP:0001258Spastic paraplegia2RAB11B CL E G H9230617807NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER617807C4540498OMIM11619761604198
HP:0001257HP:0002478Progressive spastic quadriplegia2RAB11B CL E G H9230617807NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER617807C4540498OMIM11619761604198
HP:0001257HP:0031957Spastic hemiparetic gait2RAB11B CL E G H9230617807NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER617807C4540498OMIM11619761604198
HP:0001257HP:0031958Spastic paraparetic gait2RAB11B CL E G H9230617807NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER617807C4540498OMIM11619761604198
HP:0001257HP:0002313Spastic paraparesis2RAB18 CL E G H229312510ORPHA119114244602207
HP:0001257HP:0001258Spastic paraplegia2RAB18 CL E G H229312510ORPHA119114244602207
HP:0001257HP:0002478Progressive spastic quadriplegia2RAB18 CL E G H229312510ORPHA119114244602207
HP:0001257HP:0031957Spastic hemiparetic gait2RAB18 CL E G H229312510ORPHA119114244602207
HP:0001257HP:0031958Spastic paraparetic gait2RAB18 CL E G H229312510ORPHA119114244602207
HP:0001257HP:0002313Spastic paraparesis2RAB27A CL E G H5873607624Griscelli syndrome type 2607624C1868679OMIM12989766603868
HP:0001257HP:0001258Spastic paraplegia2RAB27A CL E G H5873607624Griscelli syndrome type 2607624C1868679OMIM12989766603868
HP:0001257HP:0002478Progressive spastic quadriplegia2RAB27A CL E G H5873607624Griscelli syndrome type 2607624C1868679OMIM12989766603868
HP:0001257HP:0031957Spastic hemiparetic gait2RAB27A CL E G H5873607624Griscelli syndrome type 2607624C1868679OMIM12989766603868
HP:0001257HP:0031958Spastic paraparetic gait2RAB27A CL E G H5873607624Griscelli syndrome type 2607624C1868679OMIM12989766603868
HP:0001257HP:0002313Spastic paraparesis2RAB3GAP1 CL E G H229302510ORPHA145917063602536
HP:0001257HP:0001258Spastic paraplegia2RAB3GAP1 CL E G H229302510ORPHA145917063602536
HP:0001257HP:0002478Progressive spastic quadriplegia2RAB3GAP1 CL E G H229302510ORPHA145917063602536
HP:0001257HP:0031957Spastic hemiparetic gait2RAB3GAP1 CL E G H229302510ORPHA145917063602536
HP:0001257HP:0031958Spastic paraparetic gait2RAB3GAP1 CL E G H229302510ORPHA145917063602536
HP:0001257HP:0002313Spastic paraparesis2RAB3GAP2 CL E G H257822510ORPHA167117168609275
HP:0001257HP:0001258Spastic paraplegia2RAB3GAP2 CL E G H257822510ORPHA167117168609275
HP:0001257HP:0002478Progressive spastic quadriplegia2RAB3GAP2 CL E G H257822510ORPHA167117168609275
HP:0001257HP:0031957Spastic hemiparetic gait2RAB3GAP2 CL E G H257822510ORPHA167117168609275
HP:0001257HP:0031958Spastic paraparetic gait2RAB3GAP2 CL E G H257822510ORPHA167117168609275
HP:0001257HP:0002313Spastic paraparesis2RAD50 CL E G H10111613078Nijmegen breakage syndrome-like disorder613078C2751318OMIM140049816604040
HP:0001257HP:0001258Spastic paraplegia2RAD50 CL E G H10111613078Nijmegen breakage syndrome-like disorder613078C2751318OMIM140049816604040
HP:0001257HP:0002478Progressive spastic quadriplegia2RAD50 CL E G H10111613078Nijmegen breakage syndrome-like disorder613078C2751318OMIM140049816604040
HP:0001257HP:0031957Spastic hemiparetic gait2RAD50 CL E G H10111613078Nijmegen breakage syndrome-like disorder613078C2751318OMIM140049816604040
HP:0001257HP:0031958Spastic paraparetic gait2RAD50 CL E G H10111613078Nijmegen breakage syndrome-like disorder613078C2751318OMIM140049816604040
HP:0001257HP:0002313Spastic paraparesis2RARS CL E G H5917616140Leukodystrophy, hypomyelinating, 9616140C4015323OMIM19870107820
HP:0001257HP:0001258Spastic paraplegia2RARS CL E G H5917616140Leukodystrophy, hypomyelinating, 9616140C4015323OMIM19870107820
HP:0001257HP:0002478Progressive spastic quadriplegia2RARS CL E G H5917616140Leukodystrophy, hypomyelinating, 9616140C4015323OMIM19870107820
HP:0001257HP:0031957Spastic hemiparetic gait2RARS CL E G H5917616140Leukodystrophy, hypomyelinating, 9616140C4015323OMIM19870107820
HP:0001257HP:0031958Spastic paraparetic gait2RARS CL E G H5917616140Leukodystrophy, hypomyelinating, 9616140C4015323OMIM19870107820
HP:0001257HP:0002313Spastic paraparesis2REPS1 CL E G H85021617916NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7617916CN895590OMIM115615578614825
HP:0001257HP:0001258Spastic paraplegia2REPS1 CL E G H85021617916NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7617916CN895590OMIM115615578614825
HP:0001257HP:0002478Progressive spastic quadriplegia2REPS1 CL E G H85021617916NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7617916CN895590OMIM115615578614825
HP:0001257HP:0031957Spastic hemiparetic gait2REPS1 CL E G H85021617916NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7617916CN895590OMIM115615578614825
HP:0001257HP:0031958Spastic paraparetic gait2REPS1 CL E G H85021617916NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7617916CN895590OMIM115615578614825
HP:0001257HP:0002313Spastic paraparesis2RETREG1 CL E G H54463613115Hereditary sensory and autonomic neuropathy type IIB613115C2751092OMIM152325964613114
HP:0001257HP:0001258Spastic paraplegia2RETREG1 CL E G H54463613115Hereditary sensory and autonomic neuropathy type IIB613115C2751092OMIM152325964613114
HP:0001257HP:0002478Progressive spastic quadriplegia2RETREG1 CL E G H54463613115Hereditary sensory and autonomic neuropathy type IIB613115C2751092OMIM152325964613114
HP:0001257HP:0031957Spastic hemiparetic gait2RETREG1 CL E G H54463613115Hereditary sensory and autonomic neuropathy type IIB613115C2751092OMIM152325964613114
HP:0001257HP:0031958Spastic paraparetic gait2RETREG1 CL E G H54463613115Hereditary sensory and autonomic neuropathy type IIB613115C2751092OMIM152325964613114
HP:0001257HP:0002313Spastic paraparesis2RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0001257HP:0001258Spastic paraplegia2RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0001257HP:0002478Progressive spastic quadriplegia2RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0001257HP:0031957Spastic hemiparetic gait2RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0001257HP:0031958Spastic paraparetic gait2RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0001257HP:0002313Spastic paraparesis2RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM150530220611908
HP:0001257HP:0001258Spastic paraplegia2RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM150530220611908
HP:0001257HP:0002478Progressive spastic quadriplegia2RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM150530220611908
HP:0001257HP:0031957Spastic hemiparetic gait2RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM150530220611908
HP:0001257HP:0031958Spastic paraparetic gait2RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM150530220611908
HP:0001257HP:0002313Spastic paraparesis2RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM122313429300379
HP:0001257HP:0001258Spastic paraplegia2RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM122313429300379
HP:0001257HP:0002478Progressive spastic quadriplegia2RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM122313429300379
HP:0001257HP:0031957Spastic hemiparetic gait2RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM122313429300379
HP:0001257HP:0031958Spastic paraparetic gait2RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM122313429300379
HP:0001257HP:0002313Spastic paraparesis2RNASEH2A CL E G H10535610333Aicardi Goutieres syndrome 4610333C1835912OMIM140418518606034
HP:0001257HP:0001258Spastic paraplegia2RNASEH2A CL E G H10535610333Aicardi Goutieres syndrome 4610333C1835912OMIM140418518606034
HP:0001257HP:0002478Progressive spastic quadriplegia2RNASEH2A CL E G H10535610333Aicardi Goutieres syndrome 4610333C1835912OMIM140418518606034
HP:0001257HP:0031957Spastic hemiparetic gait2RNASEH2A CL E G H10535610333Aicardi Goutieres syndrome 4610333C1835912OMIM140418518606034
HP:0001257HP:0031958Spastic paraparetic gait2RNASEH2A CL E G H10535610333Aicardi Goutieres syndrome 4610333C1835912OMIM140418518606034
HP:0001257HP:0002313Spastic paraparesis2RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM130724116610330
HP:0001257HP:0001258Spastic paraplegia2RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM130724116610330
HP:0001257HP:0002478Progressive spastic quadriplegia2RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM130724116610330
HP:0001257HP:0031957Spastic hemiparetic gait2RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM130724116610330
HP:0001257HP:0031958Spastic paraparetic gait2RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM130724116610330
HP:0001257HP:0002313Spastic paraparesis2RNU4ATAC CL E G H1001516832636Hemihypertrophy intestinal web corneal opacityORPHA126134016601428
HP:0001257HP:0001258Spastic paraplegia2RNU4ATAC CL E G H1001516832636Hemihypertrophy intestinal web corneal opacityORPHA126134016601428
HP:0001257HP:0002478Progressive spastic quadriplegia2RNU4ATAC CL E G H1001516832636Hemihypertrophy intestinal web corneal opacityORPHA126134016601428
HP:0001257HP:0031957Spastic hemiparetic gait2RNU4ATAC CL E G H1001516832636Hemihypertrophy intestinal web corneal opacityORPHA126134016601428
HP:0001257HP:0031958Spastic paraparetic gait2RNU4ATAC CL E G H1001516832636Hemihypertrophy intestinal web corneal opacityORPHA126134016601428
HP:0001257HP:0002313Spastic paraparesis2ROGDI CL E G H796411946ORPHA156029478614574
HP:0001257HP:0001258Spastic paraplegia2ROGDI CL E G H796411946ORPHA156029478614574
HP:0001257HP:0002478Progressive spastic quadriplegia2ROGDI CL E G H796411946ORPHA156029478614574
HP:0001257HP:0031957Spastic hemiparetic gait2ROGDI CL E G H796411946ORPHA156029478614574
HP:0001257HP:0031958Spastic paraparetic gait2ROGDI CL E G H796411946ORPHA156029478614574
HP:0001257HP:0002313Spastic paraparesis2ROGDI CL E G H79641226750Kohlschutter's syndrome226750C0406740OMIM156029478614574
HP:0001257HP:0001258Spastic paraplegia2ROGDI CL E G H79641226750Kohlschutter's syndrome226750C0406740OMIM156029478614574
HP:0001257HP:0002478Progressive spastic quadriplegia2ROGDI CL E G H79641226750Kohlschutter's syndrome226750C0406740OMIM156029478614574
HP:0001257HP:0031957Spastic hemiparetic gait2ROGDI CL E G H79641226750Kohlschutter's syndrome226750C0406740OMIM156029478614574
HP:0001257HP:0031958Spastic paraparetic gait2ROGDI CL E G H79641226750Kohlschutter's syndrome226750C0406740OMIM156029478614574
HP:0001257HP:0002313Spastic paraparesis2RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM1149429168610937
HP:0001257HP:0001258Spastic paraplegia2RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM1149429168610937
HP:0001257HP:0002478Progressive spastic quadriplegia2RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM1149429168610937
HP:0001257HP:0031957Spastic hemiparetic gait2RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM1149429168610937
HP:0001257HP:0031958Spastic paraparetic gait2RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM1149429168610937
HP:0001257HP:0002313Spastic paraparesis2RPIA CL E G H22934608611Deficiency of ribose-5-phosphate isomerase608611C1291609OMIM111210297180430
HP:0001257HP:0001258Spastic paraplegia2RPIA CL E G H22934608611Deficiency of ribose-5-phosphate isomerase608611C1291609OMIM111210297180430
HP:0001257HP:0002478Progressive spastic quadriplegia2RPIA CL E G H22934608611Deficiency of ribose-5-phosphate isomerase608611C1291609OMIM111210297180430
HP:0001257HP:0031957Spastic hemiparetic gait2RPIA CL E G H22934608611Deficiency of ribose-5-phosphate isomerase608611C1291609OMIM111210297180430
HP:0001257HP:0031958Spastic paraparetic gait2RPIA CL E G H22934608611Deficiency of ribose-5-phosphate isomerase608611C1291609OMIM111210297180430
HP:0001257HP:0002313Spastic paraparesis2RUSC2 CL E G H9853617773MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61617773C4540424OMIM182423625611053
HP:0001257HP:0001258Spastic paraplegia2RUSC2 CL E G H9853617773MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61617773C4540424OMIM182423625611053
HP:0001257HP:0002478Progressive spastic quadriplegia2RUSC2 CL E G H9853617773MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61617773C4540424OMIM182423625611053
HP:0001257HP:0031957Spastic hemiparetic gait2RUSC2 CL E G H9853617773MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61617773C4540424OMIM182423625611053
HP:0001257HP:0031958Spastic paraparetic gait2RUSC2 CL E G H9853617773MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61617773C4540424OMIM182423625611053
HP:0001257HP:0002313Spastic paraparesis2SACS CL E G H26278270550Spastic ataxia Charlevoix-Saguenay type270550C1849140OMIM1337710519604490
HP:0001257HP:0001258Spastic paraplegia2SACS CL E G H26278270550Spastic ataxia Charlevoix-Saguenay type270550C1849140OMIM1337710519604490
HP:0001257HP:0002478Progressive spastic quadriplegia2SACS CL E G H26278270550Spastic ataxia Charlevoix-Saguenay type270550C1849140OMIM1337710519604490
HP:0001257HP:0031957Spastic hemiparetic gait2SACS CL E G H26278270550Spastic ataxia Charlevoix-Saguenay type270550C1849140OMIM1337710519604490
HP:0001257HP:0031958Spastic paraparetic gait2SACS CL E G H26278270550Spastic ataxia Charlevoix-Saguenay type270550C1849140OMIM1337710519604490
HP:0001257HP:0002313Spastic paraparesis2SAMHD1 CL E G H25939612952Aicardi Goutieres syndrome 5612952C2749659OMIM174615925606754
HP:0001257HP:0001258Spastic paraplegia2SAMHD1 CL E G H25939612952Aicardi Goutieres syndrome 5612952C2749659OMIM174615925606754
HP:0001257HP:0002478Progressive spastic quadriplegia2SAMHD1 CL E G H25939612952Aicardi Goutieres syndrome 5612952C2749659OMIM174615925606754
HP:0001257HP:0031957Spastic hemiparetic gait2SAMHD1 CL E G H25939612952Aicardi Goutieres syndrome 5612952C2749659OMIM174615925606754
HP:0001257HP:0031958Spastic paraparetic gait2SAMHD1 CL E G H25939612952Aicardi Goutieres syndrome 5612952C2749659OMIM174615925606754
HP:0001257HP:0002313Spastic paraparesis2SCN1B CL E G H6324617350Epileptic encephalopathy, early infantile, 52617350C4479236OMIM151110586600235
HP:0001257HP:0001258Spastic paraplegia2SCN1B CL E G H6324617350Epileptic encephalopathy, early infantile, 52617350C4479236OMIM151110586600235
HP:0001257HP:0002478Progressive spastic quadriplegia2SCN1B CL E G H6324617350Epileptic encephalopathy, early infantile, 52617350C4479236OMIM151110586600235
HP:0001257HP:0031957Spastic hemiparetic gait2SCN1B CL E G H6324617350Epileptic encephalopathy, early infantile, 52617350C4479236OMIM151110586600235
HP:0001257HP:0031958Spastic paraparetic gait2SCN1B CL E G H6324617350Epileptic encephalopathy, early infantile, 52617350C4479236OMIM151110586600235
HP:0001257HP:0002313Spastic paraparesis2SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0001257HP:0001258Spastic paraplegia2SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0001257HP:0002478Progressive spastic quadriplegia2SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0001257HP:0031957Spastic hemiparetic gait2SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0001257HP:0031958Spastic paraparetic gait2SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0001257HP:0002313Spastic paraparesis2SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1250310680600857
HP:0001257HP:0001258Spastic paraplegia2SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1250310680600857
HP:0001257HP:0002478Progressive spastic quadriplegia2SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1250310680600857
HP:0001257HP:0031957Spastic hemiparetic gait2SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1250310680600857
HP:0001257HP:0031958Spastic paraparetic gait2SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1250310680600857
HP:0001257HP:0002313Spastic paraparesis2SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM17733867612848
HP:0001257HP:0001258Spastic paraplegia2SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM17733867612848
HP:0001257HP:0002478Progressive spastic quadriplegia2SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM17733867612848
HP:0001257HP:0031957Spastic hemiparetic gait2SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM17733867612848
HP:0001257HP:0031958Spastic paraparetic gait2SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM17733867612848
HP:0001257HP:0002313Spastic paraparesis2SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM168610683602690
HP:0001257HP:0001258Spastic paraplegia2SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM168610683602690
HP:0001257HP:0002478Progressive spastic quadriplegia2SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM168610683602690
HP:0001257HP:0031957Spastic hemiparetic gait2SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM168610683602690
HP:0001257HP:0031958Spastic paraparetic gait2SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM168610683602690
HP:0001257HP:0002313Spastic paraparesis2SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0001257HP:0001258Spastic paraplegia2SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0001257HP:0002478Progressive spastic quadriplegia2SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0001257HP:0031957Spastic hemiparetic gait2SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0001257HP:0031958Spastic paraparetic gait2SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0001257HP:0002313Spastic paraparesis2SIGMAR1 CL E G H10280614373Amyotrophic lateral sclerosis 16, juvenile614373C3280587OMIM12478157601978
HP:0001257HP:0001258Spastic paraplegia2SIGMAR1 CL E G H10280614373Amyotrophic lateral sclerosis 16, juvenile614373C3280587OMIM12478157601978
HP:0001257HP:0002478Progressive spastic quadriplegia2SIGMAR1 CL E G H10280614373Amyotrophic lateral sclerosis 16, juvenile614373C3280587OMIM12478157601978
HP:0001257HP:0031957Spastic hemiparetic gait2SIGMAR1 CL E G H10280614373Amyotrophic lateral sclerosis 16, juvenile614373C3280587OMIM12478157601978
HP:0001257HP:0031958Spastic paraparetic gait2SIGMAR1 CL E G H10280614373Amyotrophic lateral sclerosis 16, juvenile614373C3280587OMIM12478157601978
HP:0001257HP:0002313Spastic paraparesis2SIGMAR1 CL E G H10280300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA12478157601978
HP:0001257HP:0001258Spastic paraplegia2SIGMAR1 CL E G H10280300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA12478157601978
HP:0001257HP:0002478Progressive spastic quadriplegia2SIGMAR1 CL E G H10280300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA12478157601978
HP:0001257HP:0031957Spastic hemiparetic gait2SIGMAR1 CL E G H10280300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA12478157601978
HP:0001257HP:0031958Spastic paraparetic gait2SIGMAR1 CL E G H10280300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA12478157601978
HP:0001257HP:0002313Spastic paraparesis2SIL1 CL E G H64374559ORPHA135224624608005
HP:0001257HP:0001258Spastic paraplegia2SIL1 CL E G H64374559ORPHA135224624608005
HP:0001257HP:0002478Progressive spastic quadriplegia2SIL1 CL E G H64374559ORPHA135224624608005
HP:0001257HP:0031957Spastic hemiparetic gait2SIL1 CL E G H64374559ORPHA135224624608005
HP:0001257HP:0031958Spastic paraparetic gait2SIL1 CL E G H64374559ORPHA135224624608005
HP:0001257HP:0002313Spastic paraparesis2SIL1 CL E G H64374248800Marinesco-Sjögren syndrome248800C0024814OMIM135224624608005
HP:0001257HP:0001258Spastic paraplegia2SIL1 CL E G H64374248800Marinesco-Sjögren syndrome248800C0024814OMIM135224624608005
HP:0001257HP:0002478Progressive spastic quadriplegia2SIL1 CL E G H64374248800Marinesco-Sjögren syndrome248800C0024814OMIM135224624608005
HP:0001257HP:0031957Spastic hemiparetic gait2SIL1 CL E G H64374248800Marinesco-Sjögren syndrome248800C0024814OMIM135224624608005
HP:0001257HP:0031958Spastic paraparetic gait2SIL1 CL E G H64374248800Marinesco-Sjögren syndrome248800C0024814OMIM135224624608005
HP:0001257HP:0002313Spastic paraparesis2SLC13A5 CL E G H2841111946ORPHA168523089608305
HP:0001257HP:0001258Spastic paraplegia2SLC13A5 CL E G H2841111946ORPHA168523089608305
HP:0001257HP:0002478Progressive spastic quadriplegia2SLC13A5 CL E G H2841111946ORPHA168523089608305
HP:0001257HP:0031957Spastic hemiparetic gait2SLC13A5 CL E G H2841111946ORPHA168523089608305
HP:0001257HP:0031958Spastic paraparetic gait2SLC13A5 CL E G H2841111946ORPHA168523089608305
HP:0001257HP:0002313Spastic paraparesis2SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0001257HP:0001258Spastic paraplegia2SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0001257HP:0002478Progressive spastic quadriplegia2SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0001257HP:0031957Spastic hemiparetic gait2SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0001257HP:0031958Spastic paraparetic gait2SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0001257HP:0002313Spastic paraparesis2SLC17A5 CL E G H26503604369Salla disease604369C1096903OMIM152010933604322
HP:0001257HP:0001258Spastic paraplegia2SLC17A5 CL E G H26503604369Salla disease604369C1096903OMIM152010933604322
HP:0001257HP:0002478Progressive spastic quadriplegia2SLC17A5 CL E G H26503604369Salla disease604369C1096903OMIM152010933604322
HP:0001257HP:0031957Spastic hemiparetic gait2SLC17A5 CL E G H26503604369Salla disease604369C1096903OMIM152010933604322
HP:0001257HP:0031958Spastic paraparetic gait2SLC17A5 CL E G H26503604369Salla disease604369C1096903OMIM152010933604322
HP:0001257HP:0002313Spastic paraparesis2SLC25A12 CL E G H8604612949Hypomyelination, global cerebral612949C2751855OMIM145110982603667
HP:0001257HP:0001258Spastic paraplegia2SLC25A12 CL E G H8604612949Hypomyelination, global cerebral612949C2751855OMIM145110982603667
HP:0001257HP:0002478Progressive spastic quadriplegia2SLC25A12 CL E G H8604612949Hypomyelination, global cerebral612949C2751855OMIM145110982603667
HP:0001257HP:0031957Spastic hemiparetic gait2SLC25A12 CL E G H8604612949Hypomyelination, global cerebral612949C2751855OMIM145110982603667
HP:0001257HP:0031958Spastic paraparetic gait2SLC25A12 CL E G H8604612949Hypomyelination, global cerebral612949C2751855OMIM145110982603667
HP:0001257HP:0002313Spastic paraparesis2SLC25A22 CL E G H79751609304Early myoclonic encephalopathy609304C0270855OMIM155119954609302
HP:0001257HP:0001258Spastic paraplegia2SLC25A22 CL E G H79751609304Early myoclonic encephalopathy609304C0270855OMIM155119954609302
HP:0001257HP:0002478Progressive spastic quadriplegia2SLC25A22 CL E G H79751609304Early myoclonic encephalopathy609304C0270855OMIM155119954609302
HP:0001257HP:0031957Spastic hemiparetic gait2SLC25A22 CL E G H79751609304Early myoclonic encephalopathy609304C0270855OMIM155119954609302
HP:0001257HP:0031958Spastic paraparetic gait2SLC25A22 CL E G H79751609304Early myoclonic encephalopathy609304C0270855OMIM155119954609302
HP:0001257HP:0002313Spastic paraparesis2SLC2A1 CL E G H651371277ORPHA196511005138140
HP:0001257HP:0001258Spastic paraplegia2SLC2A1 CL E G H651371277ORPHA196511005138140
HP:0001257HP:0002478Progressive spastic quadriplegia2SLC2A1 CL E G H651371277ORPHA196511005138140
HP:0001257HP:0031957Spastic hemiparetic gait2SLC2A1 CL E G H651371277ORPHA196511005138140
HP:0001257HP:0031958Spastic paraparetic gait2SLC2A1 CL E G H651371277ORPHA196511005138140
HP:0001257HP:0002313Spastic paraparesis2SLC2A1 CL E G H6513606777GLUT1 deficiency syndrome 1606777CN030711OMIM196511005138140
HP:0001257HP:0001258Spastic paraplegia2SLC2A1 CL E G H6513606777GLUT1 deficiency syndrome 1606777CN030711OMIM196511005138140
HP:0001257HP:0002478Progressive spastic quadriplegia2SLC2A1 CL E G H6513606777GLUT1 deficiency syndrome 1606777CN030711OMIM196511005138140
HP:0001257HP:0031957Spastic hemiparetic gait2SLC2A1 CL E G H6513606777GLUT1 deficiency syndrome 1606777CN030711OMIM196511005138140
HP:0001257HP:0031958Spastic paraparetic gait2SLC2A1 CL E G H6513606777GLUT1 deficiency syndrome 1606777CN030711OMIM196511005138140
HP:0001257HP:0002313Spastic paraparesis2SLC2A1 CL E G H6513608885Stomatin-deficient cryohydrocytosis with neurologic defects608885C1837206OMIM196511005138140
HP:0001257HP:0001258Spastic paraplegia2SLC2A1 CL E G H6513608885Stomatin-deficient cryohydrocytosis with neurologic defects608885C1837206OMIM196511005138140
HP:0001257HP:0002478Progressive spastic quadriplegia2SLC2A1 CL E G H6513608885Stomatin-deficient cryohydrocytosis with neurologic defects608885C1837206OMIM196511005138140
HP:0001257HP:0031957Spastic hemiparetic gait2SLC2A1 CL E G H6513608885Stomatin-deficient cryohydrocytosis with neurologic defects608885C1837206OMIM196511005138140
HP:0001257HP:0031958Spastic paraparetic gait2SLC2A1 CL E G H6513608885Stomatin-deficient cryohydrocytosis with neurologic defects608885C1837206OMIM196511005138140
HP:0001257HP:0002313Spastic paraparesis2SLC2A3 CL E G H651539946,XX testicular disorder of sex developmentC2936420ORPHA19011007138170
HP:0001257HP:0001258Spastic paraplegia2SLC2A3 CL E G H651539946,XX testicular disorder of sex developmentC2936420ORPHA19011007138170
HP:0001257HP:0002478Progressive spastic quadriplegia2SLC2A3 CL E G H651539946,XX testicular disorder of sex developmentC2936420ORPHA19011007138170
HP:0001257HP:0031957Spastic hemiparetic gait2SLC2A3 CL E G H651539946,XX testicular disorder of sex developmentC2936420ORPHA19011007138170
HP:0001257HP:0031958Spastic paraparetic gait2SLC2A3 CL E G H651539946,XX testicular disorder of sex developmentC2936420ORPHA19011007138170
HP:0001257HP:0002313Spastic paraparesis2SLC39A14 CL E G H23516617013Hypermanganesemia with dystonia 2617013C4310765OMIM127020858608736
HP:0001257HP:0001258Spastic paraplegia2SLC39A14 CL E G H23516617013Hypermanganesemia with dystonia 2617013C4310765OMIM127020858608736
HP:0001257HP:0002478Progressive spastic quadriplegia2SLC39A14 CL E G H23516617013Hypermanganesemia with dystonia 2617013C4310765OMIM127020858608736
HP:0001257HP:0031957Spastic hemiparetic gait2SLC39A14 CL E G H23516617013Hypermanganesemia with dystonia 2617013C4310765OMIM127020858608736
HP:0001257HP:0031958Spastic paraparetic gait2SLC39A14 CL E G H23516617013Hypermanganesemia with dystonia 2617013C4310765OMIM127020858608736
HP:0001257HP:0002313Spastic paraparesis2SLC6A5 CL E G H91523197Lateral body wall defectORPHA171811051604159
HP:0001257HP:0001258Spastic paraplegia2SLC6A5 CL E G H91523197Lateral body wall defectORPHA171811051604159
HP:0001257HP:0002478Progressive spastic quadriplegia2SLC6A5 CL E G H91523197Lateral body wall defectORPHA171811051604159
HP:0001257HP:0031957Spastic hemiparetic gait2SLC6A5 CL E G H91523197Lateral body wall defectORPHA171811051604159
HP:0001257HP:0031958Spastic paraparetic gait2SLC6A5 CL E G H91523197Lateral body wall defectORPHA171811051604159
HP:0001257HP:0002313Spastic paraparesis2SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM1106211055300036
HP:0001257HP:0001258Spastic paraplegia2SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM1106211055300036
HP:0001257HP:0002478Progressive spastic quadriplegia2SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM1106211055300036
HP:0001257HP:0031957Spastic hemiparetic gait2SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM1106211055300036
HP:0001257HP:0031958Spastic paraparetic gait2SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM1106211055300036
HP:0001257HP:0002313Spastic paraparesis2SMPD1 CL E G H6609257200Niemann-Pick disease, type A257200C0268242OMIM186411120607608
HP:0001257HP:0001258Spastic paraplegia2SMPD1 CL E G H6609257200Niemann-Pick disease, type A257200C0268242OMIM186411120607608
HP:0001257HP:0002478Progressive spastic quadriplegia2SMPD1 CL E G H6609257200Niemann-Pick disease, type A257200C0268242OMIM186411120607608
HP:0001257HP:0031957Spastic hemiparetic gait2SMPD1 CL E G H6609257200Niemann-Pick disease, type A257200C0268242OMIM186411120607608
HP:0001257HP:0031958Spastic paraparetic gait2SMPD1 CL E G H6609257200Niemann-Pick disease, type A257200C0268242OMIM186411120607608
HP:0001257HP:0002313Spastic paraparesis2SNCA CL E G H6622171695ORPHA119311138163890
HP:0001257HP:0001258Spastic paraplegia2SNCA CL E G H6622171695ORPHA119311138163890
HP:0001257HP:0002478Progressive spastic quadriplegia2SNCA CL E G H6622171695ORPHA119311138163890
HP:0001257HP:0031957Spastic hemiparetic gait2SNCA CL E G H6622171695ORPHA119311138163890
HP:0001257HP:0031958Spastic paraparetic gait2SNCA CL E G H6622171695ORPHA119311138163890
HP:0001257HP:0002313Spastic paraparesis2SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM118932952616663
HP:0001257HP:0001258Spastic paraplegia2SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM118932952616663
HP:0001257HP:0002478Progressive spastic quadriplegia2SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM118932952616663
HP:0001257HP:0031957Spastic hemiparetic gait2SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM118932952616663
HP:0001257HP:0031958Spastic paraparetic gait2SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM118932952616663
HP:0001257HP:0002313Spastic paraparesis2SNX14 CL E G H57231616354Spinocerebellar ataxia, autosomal recessive 20616354C4225355OMIM127014977616105
HP:0001257HP:0001258Spastic paraplegia2SNX14 CL E G H57231616354Spinocerebellar ataxia, autosomal recessive 20616354C4225355OMIM127014977616105
HP:0001257HP:0002478Progressive spastic quadriplegia2SNX14 CL E G H57231616354Spinocerebellar ataxia, autosomal recessive 20616354C4225355OMIM127014977616105
HP:0001257HP:0031957Spastic hemiparetic gait2SNX14 CL E G H57231616354Spinocerebellar ataxia, autosomal recessive 20616354C4225355OMIM127014977616105
HP:0001257HP:0031958Spastic paraparetic gait2SNX14 CL E G H57231616354Spinocerebellar ataxia, autosomal recessive 20616354C4225355OMIM127014977616105
HP:0001257HP:0002313Spastic paraparesis2SOD1 CL E G H6647803ORPHA129411179147450
HP:0001257HP:0001258Spastic paraplegia2SOD1 CL E G H6647803ORPHA129411179147450
HP:0001257HP:0002478Progressive spastic quadriplegia2SOD1 CL E G H6647803ORPHA129411179147450
HP:0001257HP:0031957Spastic hemiparetic gait2SOD1 CL E G H6647803ORPHA129411179147450
HP:0001257HP:0031958Spastic paraparetic gait2SOD1 CL E G H6647803ORPHA129411179147450
HP:0001257HP:0002313Spastic paraparesis2SOD1 CL E G H6647105400Amyotrophic lateral sclerosis type 1105400C1862939OMIM129411179147450
HP:0001257HP:0001258Spastic paraplegia2SOD1 CL E G H6647105400Amyotrophic lateral sclerosis type 1105400C1862939OMIM129411179147450
HP:0001257HP:0002478Progressive spastic quadriplegia2SOD1 CL E G H6647105400Amyotrophic lateral sclerosis type 1105400C1862939OMIM129411179147450
HP:0001257HP:0031957Spastic hemiparetic gait2SOD1 CL E G H6647105400Amyotrophic lateral sclerosis type 1105400C1862939OMIM129411179147450
HP:0001257HP:0031958Spastic paraparetic gait2SOD1 CL E G H6647105400Amyotrophic lateral sclerosis type 1105400C1862939OMIM129411179147450
HP:0001257HP:0002313Spastic paraparesis2SOX10 CL E G H6663163746ORPHA137811190602229
HP:0001257HP:0001258Spastic paraplegia2SOX10 CL E G H6663163746ORPHA137811190602229
HP:0001257HP:0002478Progressive spastic quadriplegia2SOX10 CL E G H6663163746ORPHA137811190602229
HP:0001257HP:0031957Spastic hemiparetic gait2SOX10 CL E G H6663163746ORPHA137811190602229
HP:0001257HP:0031958Spastic paraparetic gait2SOX10 CL E G H6663163746ORPHA137811190602229
HP:0001257HP:0002313Spastic paraparesis2SPATA5 CL E G H166378616577Epilepsy, hearing loss, and mental retardation syndrome616577C4225276OMIM118119613940
HP:0001257HP:0001258Spastic paraplegia2SPATA5 CL E G H166378616577Epilepsy, hearing loss, and mental retardation syndrome616577C4225276OMIM118119613940
HP:0001257HP:0002478Progressive spastic quadriplegia2SPATA5 CL E G H166378616577Epilepsy, hearing loss, and mental retardation syndrome616577C4225276OMIM118119613940
HP:0001257HP:0031957Spastic hemiparetic gait2SPATA5 CL E G H166378616577Epilepsy, hearing loss, and mental retardation syndrome616577C4225276OMIM118119613940
HP:0001257HP:0031958Spastic paraparetic gait2SPATA5 CL E G H166378616577Epilepsy, hearing loss, and mental retardation syndrome616577C4225276OMIM118119613940
HP:0001257HP:0002313Spastic paraparesis2SPG11 CL E G H80208602099Amyotrophic lateral sclerosis type 5602099C1865864OMIM1262511226610844
HP:0001257HP:0001258Spastic paraplegia2SPG11 CL E G H80208602099Amyotrophic lateral sclerosis type 5602099C1865864OMIM1262511226610844
HP:0001257HP:0002478Progressive spastic quadriplegia2SPG11 CL E G H80208602099Amyotrophic lateral sclerosis type 5602099C1865864OMIM1262511226610844
HP:0001257HP:0031957Spastic hemiparetic gait2SPG11 CL E G H80208602099Amyotrophic lateral sclerosis type 5602099C1865864OMIM1262511226610844
HP:0001257HP:0031958Spastic paraparetic gait2SPG11 CL E G H80208602099Amyotrophic lateral sclerosis type 5602099C1865864OMIM1262511226610844
HP:0001257HP:0002313Spastic paraparesis2SPG11 CL E G H80208300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1262511226610844
HP:0001257HP:0001258Spastic paraplegia2SPG11 CL E G H80208300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1262511226610844
HP:0001257HP:0002478Progressive spastic quadriplegia2SPG11 CL E G H80208300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1262511226610844
HP:0001257HP:0031957Spastic hemiparetic gait2SPG11 CL E G H80208300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1262511226610844
HP:0001257HP:0031958Spastic paraparetic gait2SPG11 CL E G H80208300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1262511226610844
HP:0001257HP:0002313Spastic paraparesis2SPG21 CL E G H51324101001ORPHA116220373608181
HP:0001257HP:0001258Spastic paraplegia2SPG21 CL E G H51324101001ORPHA116220373608181
HP:0001257HP:0002478Progressive spastic quadriplegia2SPG21 CL E G H51324101001ORPHA116220373608181
HP:0001257HP:0031957Spastic hemiparetic gait2SPG21 CL E G H51324101001ORPHA116220373608181
HP:0001257HP:0031958Spastic paraparetic gait2SPG21 CL E G H51324101001ORPHA116220373608181
HP:0001257HP:0002313Spastic paraparesis2SPR CL E G H6697612716Sepiapterin reductase deficiency612716C0268468OMIM119811257182125
HP:0001257HP:0001258Spastic paraplegia2SPR CL E G H6697612716Sepiapterin reductase deficiency612716C0268468OMIM119811257182125
HP:0001257HP:0002478Progressive spastic quadriplegia2SPR CL E G H6697612716Sepiapterin reductase deficiency612716C0268468OMIM119811257182125
HP:0001257HP:0031957Spastic hemiparetic gait2SPR CL E G H6697612716Sepiapterin reductase deficiency612716C0268468OMIM119811257182125
HP:0001257HP:0031958Spastic paraparetic gait2SPR CL E G H6697612716Sepiapterin reductase deficiency612716C0268468OMIM119811257182125
HP:0001257HP:0002313Spastic paraparesis2SQSTM1 CL E G H8878803ORPHA167711280601530
HP:0001257HP:0001258Spastic paraplegia2SQSTM1 CL E G H8878803ORPHA167711280601530
HP:0001257HP:0002478Progressive spastic quadriplegia2SQSTM1 CL E G H8878803ORPHA167711280601530
HP:0001257HP:0031957Spastic hemiparetic gait2SQSTM1 CL E G H8878803ORPHA167711280601530
HP:0001257HP:0031958Spastic paraparetic gait2SQSTM1 CL E G H8878803ORPHA167711280601530
HP:0001257HP:0002313Spastic paraparesis2STN1 CL E G H79991617341Cerebroretinal microangiopathy with calcifications and cysts 2617341C4479220OMIM122526200613128
HP:0001257HP:0001258Spastic paraplegia2STN1 CL E G H79991617341Cerebroretinal microangiopathy with calcifications and cysts 2617341C4479220OMIM122526200613128
HP:0001257HP:0002478Progressive spastic quadriplegia2STN1 CL E G H79991617341Cerebroretinal microangiopathy with calcifications and cysts 2617341C4479220OMIM122526200613128
HP:0001257HP:0031957Spastic hemiparetic gait2STN1 CL E G H79991617341Cerebroretinal microangiopathy with calcifications and cysts 2617341C4479220OMIM122526200613128
HP:0001257HP:0031958Spastic paraparetic gait2STN1 CL E G H79991617341Cerebroretinal microangiopathy with calcifications and cysts 2617341C4479220OMIM122526200613128
HP:0001257HP:0002313Spastic paraparesis2STXBP1 CL E G H68123095ORPHA1101711444602926
HP:0001257HP:0001258Spastic paraplegia2STXBP1 CL E G H68123095ORPHA1101711444602926
HP:0001257HP:0002478Progressive spastic quadriplegia2STXBP1 CL E G H68123095ORPHA1101711444602926
HP:0001257HP:0031957Spastic hemiparetic gait2STXBP1 CL E G H68123095ORPHA1101711444602926
HP:0001257HP:0031958Spastic paraparetic gait2STXBP1 CL E G H68123095ORPHA1101711444602926
HP:0001257HP:0002313Spastic paraparesis2SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0001257HP:0001258Spastic paraplegia2SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0001257HP:0002478Progressive spastic quadriplegia2SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0001257HP:0031957Spastic hemiparetic gait2SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0001257HP:0031958Spastic paraparetic gait2SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0001257HP:0002313Spastic paraparesis2SUMF1 CL E G H285362272200Multiple sulfatase deficiency272200C0268263OMIM174620376607939
HP:0001257HP:0001258Spastic paraplegia2SUMF1 CL E G H285362272200Multiple sulfatase deficiency272200C0268263OMIM174620376607939
HP:0001257HP:0002478Progressive spastic quadriplegia2SUMF1 CL E G H285362272200Multiple sulfatase deficiency272200C0268263OMIM174620376607939
HP:0001257HP:0031957Spastic hemiparetic gait2SUMF1 CL E G H285362272200Multiple sulfatase deficiency272200C0268263OMIM174620376607939
HP:0001257HP:0031958Spastic paraparetic gait2SUMF1 CL E G H285362272200Multiple sulfatase deficiency272200C0268263OMIM174620376607939
HP:0001257HP:0002313Spastic paraparesis2SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0001257HP:0001258Spastic paraplegia2SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0001257HP:0002478Progressive spastic quadriplegia2SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0001257HP:0031957Spastic hemiparetic gait2SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0001257HP:0031958Spastic paraparetic gait2SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0001257HP:0002313Spastic paraparesis2SUZ12 CL E G H235123447ORPHA113917101606245
HP:0001257HP:0001258Spastic paraplegia2SUZ12 CL E G H235123447ORPHA113917101606245
HP:0001257HP:0002478Progressive spastic quadriplegia2SUZ12 CL E G H235123447ORPHA113917101606245
HP:0001257HP:0031957Spastic hemiparetic gait2SUZ12 CL E G H235123447ORPHA113917101606245
HP:0001257HP:0031958Spastic paraparetic gait2SUZ12 CL E G H235123447ORPHA113917101606245
HP:0001257HP:0002313Spastic paraparesis2TAF15 CL E G H8148803ORPHA112511547601574
HP:0001257HP:0001258Spastic paraplegia2TAF15 CL E G H8148803ORPHA112511547601574
HP:0001257HP:0002478Progressive spastic quadriplegia2TAF15 CL E G H8148803ORPHA112511547601574
HP:0001257HP:0031957Spastic hemiparetic gait2TAF15 CL E G H8148803ORPHA112511547601574
HP:0001257HP:0031958Spastic paraparetic gait2TAF15 CL E G H8148803ORPHA112511547601574
HP:0001257HP:0002313Spastic paraparesis2TAF2 CL E G H6873615599Mental retardation, autosomal recessive 40615599C3810080OMIM127111536604912
HP:0001257HP:0001258Spastic paraplegia2TAF2 CL E G H6873615599Mental retardation, autosomal recessive 40615599C3810080OMIM127111536604912
HP:0001257HP:0002478Progressive spastic quadriplegia2TAF2 CL E G H6873615599Mental retardation, autosomal recessive 40615599C3810080OMIM127111536604912
HP:0001257HP:0031957Spastic hemiparetic gait2TAF2 CL E G H6873615599Mental retardation, autosomal recessive 40615599C3810080OMIM127111536604912
HP:0001257HP:0031958Spastic paraparetic gait2TAF2 CL E G H6873615599Mental retardation, autosomal recessive 40615599C3810080OMIM127111536604912
HP:0001257HP:0002313Spastic paraparesis2TARDBP CL E G H23435803ORPHA130911571605078
HP:0001257HP:0001258Spastic paraplegia2TARDBP CL E G H23435803ORPHA130911571605078
HP:0001257HP:0002478Progressive spastic quadriplegia2TARDBP CL E G H23435803ORPHA130911571605078
HP:0001257HP:0031957Spastic hemiparetic gait2TARDBP CL E G H23435803ORPHA130911571605078
HP:0001257HP:0031958Spastic paraparetic gait2TARDBP CL E G H23435803ORPHA130911571605078
HP:0001257HP:0002313Spastic paraparesis2TARDBP CL E G H23435612069Amyotrophic lateral sclerosis type 10612069C2677565OMIM130911571605078
HP:0001257HP:0001258Spastic paraplegia2TARDBP CL E G H23435612069Amyotrophic lateral sclerosis type 10612069C2677565OMIM130911571605078
HP:0001257HP:0002478Progressive spastic quadriplegia2TARDBP CL E G H23435612069Amyotrophic lateral sclerosis type 10612069C2677565OMIM130911571605078
HP:0001257HP:0031957Spastic hemiparetic gait2TARDBP CL E G H23435612069Amyotrophic lateral sclerosis type 10612069C2677565OMIM130911571605078
HP:0001257HP:0031958Spastic paraparetic gait2TARDBP CL E G H23435612069Amyotrophic lateral sclerosis type 10612069C2677565OMIM130911571605078
HP:0001257HP:0002313Spastic paraparesis2TBC1D20 CL E G H1286372510ORPHA119516133611663
HP:0001257HP:0001258Spastic paraplegia2TBC1D20 CL E G H1286372510ORPHA119516133611663
HP:0001257HP:0002478Progressive spastic quadriplegia2TBC1D20 CL E G H1286372510ORPHA119516133611663
HP:0001257HP:0031957Spastic hemiparetic gait2TBC1D20 CL E G H1286372510ORPHA119516133611663
HP:0001257HP:0031958Spastic paraparetic gait2TBC1D20 CL E G H1286372510ORPHA119516133611663
HP:0001257HP:0002313Spastic paraparesis2TBK1 CL E G H29110803ORPHA138211584604834
HP:0001257HP:0001258Spastic paraplegia2TBK1 CL E G H29110803ORPHA138211584604834
HP:0001257HP:0002478Progressive spastic quadriplegia2TBK1 CL E G H29110803ORPHA138211584604834
HP:0001257HP:0031957Spastic hemiparetic gait2TBK1 CL E G H29110803ORPHA138211584604834
HP:0001257HP:0031958Spastic paraparetic gait2TBK1 CL E G H29110803ORPHA138211584604834
HP:0001257HP:0002313Spastic paraparesis2TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0001257HP:0001258Spastic paraplegia2TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0001257HP:0002478Progressive spastic quadriplegia2TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0001257HP:0031957Spastic hemiparetic gait2TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0001257HP:0031958Spastic paraparetic gait2TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0001257HP:0002313Spastic paraparesis2TBP CL E G H690898759ORPHA113111588600075
HP:0001257HP:0001258Spastic paraplegia2TBP CL E G H690898759ORPHA113111588600075
HP:0001257HP:0002478Progressive spastic quadriplegia2TBP CL E G H690898759ORPHA113111588600075
HP:0001257HP:0031957Spastic hemiparetic gait2TBP CL E G H690898759ORPHA113111588600075
HP:0001257HP:0031958Spastic paraparetic gait2TBP CL E G H690898759ORPHA113111588600075
HP:0001257HP:0002313Spastic paraparesis2TCTN2 CL E G H79867616654Joubert syndrome 24616654C4084841OMIM162225774613846
HP:0001257HP:0001258Spastic paraplegia2TCTN2 CL E G H79867616654Joubert syndrome 24616654C4084841OMIM162225774613846
HP:0001257HP:0002478Progressive spastic quadriplegia2TCTN2 CL E G H79867616654Joubert syndrome 24616654C4084841OMIM162225774613846
HP:0001257HP:0031957Spastic hemiparetic gait2TCTN2 CL E G H79867616654Joubert syndrome 24616654C4084841OMIM162225774613846
HP:0001257HP:0031958Spastic paraparetic gait2TCTN2 CL E G H79867616654Joubert syndrome 24616654C4084841OMIM162225774613846
HP:0001257HP:0002313Spastic paraparesis2TELO2 CL E G H9894616954You-Hoover-Fong syndrome616954C4310778OMIM140529099611140
HP:0001257HP:0001258Spastic paraplegia2TELO2 CL E G H9894616954You-Hoover-Fong syndrome616954C4310778OMIM140529099611140
HP:0001257HP:0002478Progressive spastic quadriplegia2TELO2 CL E G H9894616954You-Hoover-Fong syndrome616954C4310778OMIM140529099611140
HP:0001257HP:0031957Spastic hemiparetic gait2TELO2 CL E G H9894616954You-Hoover-Fong syndrome616954C4310778OMIM140529099611140
HP:0001257HP:0031958Spastic paraparetic gait2TELO2 CL E G H9894616954You-Hoover-Fong syndrome616954C4310778OMIM140529099611140
HP:0001257HP:0002313Spastic paraparesis2TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0001257HP:0001258Spastic paraplegia2TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0001257HP:0002478Progressive spastic quadriplegia2TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0001257HP:0031957Spastic hemiparetic gait2TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0001257HP:0031958Spastic paraparetic gait2TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0001257HP:0002313Spastic paraparesis2TMEM231 CL E G H795832752ORPHA146337234614949
HP:0001257HP:0001258Spastic paraplegia2TMEM231 CL E G H795832752ORPHA146337234614949
HP:0001257HP:0002478Progressive spastic quadriplegia2TMEM231 CL E G H795832752ORPHA146337234614949
HP:0001257HP:0031957Spastic hemiparetic gait2TMEM231 CL E G H795832752ORPHA146337234614949
HP:0001257HP:0031958Spastic paraparetic gait2TMEM231 CL E G H795832752ORPHA146337234614949
HP:0001257HP:0002313Spastic paraparesis2TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM192828396609884
HP:0001257HP:0001258Spastic paraplegia2TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM192828396609884
HP:0001257HP:0002478Progressive spastic quadriplegia2TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM192828396609884
HP:0001257HP:0031957Spastic hemiparetic gait2TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM192828396609884
HP:0001257HP:0031958Spastic paraparetic gait2TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM192828396609884
HP:0001257HP:0002313Spastic paraparesis2TMTC3 CL E G H160418617255Lissencephaly 8617255C4310646OMIM119226899617218
HP:0001257HP:0001258Spastic paraplegia2TMTC3 CL E G H160418617255Lissencephaly 8617255C4310646OMIM119226899617218
HP:0001257HP:0002478Progressive spastic quadriplegia2TMTC3 CL E G H160418617255Lissencephaly 8617255C4310646OMIM119226899617218
HP:0001257HP:0031957Spastic hemiparetic gait2TMTC3 CL E G H160418617255Lissencephaly 8617255C4310646OMIM119226899617218
HP:0001257HP:0031958Spastic paraparetic gait2TMTC3 CL E G H160418617255Lissencephaly 8617255C4310646OMIM119226899617218
HP:0001257HP:0002313Spastic paraparesis2TP53RK CL E G H112858617730GALLOWAY-MOWAT SYNDROME 4617730C4540270OMIM17016197608679
HP:0001257HP:0001258Spastic paraplegia2TP53RK CL E G H112858617730GALLOWAY-MOWAT SYNDROME 4617730C4540270OMIM17016197608679
HP:0001257HP:0002478Progressive spastic quadriplegia2TP53RK CL E G H112858617730GALLOWAY-MOWAT SYNDROME 4617730C4540270OMIM17016197608679
HP:0001257HP:0031957Spastic hemiparetic gait2TP53RK CL E G H112858617730GALLOWAY-MOWAT SYNDROME 4617730C4540270OMIM17016197608679
HP:0001257HP:0031958Spastic paraparetic gait2TP53RK CL E G H112858617730GALLOWAY-MOWAT SYNDROME 4617730C4540270OMIM17016197608679
HP:0001257HP:0002313Spastic paraparesis2TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM118112009190450
HP:0001257HP:0001258Spastic paraplegia2TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM118112009190450
HP:0001257HP:0002478Progressive spastic quadriplegia2TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM118112009190450
HP:0001257HP:0031957Spastic hemiparetic gait2TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM118112009190450
HP:0001257HP:0031958Spastic paraparetic gait2TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM118112009190450
HP:0001257HP:0002313Spastic paraparesis2TPK1 CL E G H27010614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)614458C3280866OMIM131817358606370
HP:0001257HP:0001258Spastic paraplegia2TPK1 CL E G H27010614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)614458C3280866OMIM131817358606370
HP:0001257HP:0002478Progressive spastic quadriplegia2TPK1 CL E G H27010614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)614458C3280866OMIM131817358606370
HP:0001257HP:0031957Spastic hemiparetic gait2TPK1 CL E G H27010614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)614458C3280866OMIM131817358606370
HP:0001257HP:0031958Spastic paraparetic gait2TPK1 CL E G H27010614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)614458C3280866OMIM131817358606370
HP:0001257HP:0002313Spastic paraparesis2TPRKB CL E G H51002617731GALLOWAY-MOWAT SYNDROME 5617731C4540274OMIM14624259608680
HP:0001257HP:0001258Spastic paraplegia2TPRKB CL E G H51002617731GALLOWAY-MOWAT SYNDROME 5617731C4540274OMIM14624259608680
HP:0001257HP:0002478Progressive spastic quadriplegia2TPRKB CL E G H51002617731GALLOWAY-MOWAT SYNDROME 5617731C4540274OMIM14624259608680
HP:0001257HP:0031957Spastic hemiparetic gait2TPRKB CL E G H51002617731GALLOWAY-MOWAT SYNDROME 5617731C4540274OMIM14624259608680
HP:0001257HP:0031958Spastic paraparetic gait2TPRKB CL E G H51002617731GALLOWAY-MOWAT SYNDROME 5617731C4540274OMIM14624259608680
HP:0001257HP:0002313Spastic paraparesis2TRAK1 CL E G H22906618201EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68618201OMIM120829947608112
HP:0001257HP:0001258Spastic paraplegia2TRAK1 CL E G H22906618201EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68618201OMIM120829947608112
HP:0001257HP:0002478Progressive spastic quadriplegia2TRAK1 CL E G H22906618201EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68618201OMIM120829947608112
HP:0001257HP:0031957Spastic hemiparetic gait2TRAK1 CL E G H22906618201EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68618201OMIM120829947608112
HP:0001257HP:0031958Spastic paraparetic gait2TRAK1 CL E G H22906618201EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68618201OMIM120829947608112
HP:0001257HP:0002313Spastic paraparesis2TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM120224284614139
HP:0001257HP:0001258Spastic paraplegia2TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM120224284614139
HP:0001257HP:0002478Progressive spastic quadriplegia2TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM120224284614139
HP:0001257HP:0031957Spastic hemiparetic gait2TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM120224284614139
HP:0001257HP:0031958Spastic paraparetic gait2TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM120224284614139
HP:0001257HP:0002313Spastic paraparesis2TREM2 CL E G H54209803ORPHA115417761605086
HP:0001257HP:0001258Spastic paraplegia2TREM2 CL E G H54209803ORPHA115417761605086
HP:0001257HP:0002478Progressive spastic quadriplegia2TREM2 CL E G H54209803ORPHA115417761605086
HP:0001257HP:0031957Spastic hemiparetic gait2TREM2 CL E G H54209803ORPHA115417761605086
HP:0001257HP:0031958Spastic paraparetic gait2TREM2 CL E G H54209803ORPHA115417761605086
HP:0001257HP:0002313Spastic paraparesis2TREM2 CL E G H542092770ORPHA115417761605086
HP:0001257HP:0001258Spastic paraplegia2TREM2 CL E G H542092770ORPHA115417761605086
HP:0001257HP:0002478Progressive spastic quadriplegia2TREM2 CL E G H542092770ORPHA115417761605086
HP:0001257HP:0031957Spastic hemiparetic gait2TREM2 CL E G H542092770ORPHA115417761605086
HP:0001257HP:0031958Spastic paraparetic gait2TREM2 CL E G H542092770ORPHA115417761605086
HP:0001257HP:0002313Spastic paraparesis2TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM141812269606609
HP:0001257HP:0001258Spastic paraplegia2TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM141812269606609
HP:0001257HP:0002478Progressive spastic quadriplegia2TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM141812269606609
HP:0001257HP:0031957Spastic hemiparetic gait2TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM141812269606609
HP:0001257HP:0031958Spastic paraparetic gait2TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM141812269606609
HP:0001257HP:0002313Spastic paraparesis2TRIT1 CL E G H54802617873COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35617873CN807948OMIM111320286617840
HP:0001257HP:0001258Spastic paraplegia2TRIT1 CL E G H54802617873COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35617873CN807948OMIM111320286617840
HP:0001257HP:0002478Progressive spastic quadriplegia2TRIT1 CL E G H54802617873COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35617873CN807948OMIM111320286617840
HP:0001257HP:0031957Spastic hemiparetic gait2TRIT1 CL E G H54802617873COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35617873CN807948OMIM111320286617840
HP:0001257HP:0031958Spastic paraparetic gait2TRIT1 CL E G H54802617873COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35617873CN807948OMIM111320286617840
HP:0001257HP:0002313Spastic paraparesis2TRMT5 CL E G H57570616539Combined oxidative phosphorylation deficiency 26616539C4225290OMIM122023141611023
HP:0001257HP:0001258Spastic paraplegia2TRMT5 CL E G H57570616539Combined oxidative phosphorylation deficiency 26616539C4225290OMIM122023141611023
HP:0001257HP:0002478Progressive spastic quadriplegia2TRMT5 CL E G H57570616539Combined oxidative phosphorylation deficiency 26616539C4225290OMIM122023141611023
HP:0001257HP:0031957Spastic hemiparetic gait2TRMT5 CL E G H57570616539Combined oxidative phosphorylation deficiency 26616539C4225290OMIM122023141611023
HP:0001257HP:0031958Spastic paraparetic gait2TRMT5 CL E G H57570616539Combined oxidative phosphorylation deficiency 26616539C4225290OMIM122023141611023
HP:0001257HP:0002313Spastic paraparesis2TSEN54 CL E G H283989225753Pontocerebellar hypoplasia type 4225753C1856974OMIM141427561608755
HP:0001257HP:0001258Spastic paraplegia2TSEN54 CL E G H283989225753Pontocerebellar hypoplasia type 4225753C1856974OMIM141427561608755
HP:0001257HP:0002478Progressive spastic quadriplegia2TSEN54 CL E G H283989225753Pontocerebellar hypoplasia type 4225753C1856974OMIM141427561608755
HP:0001257HP:0031957Spastic hemiparetic gait2TSEN54 CL E G H283989225753Pontocerebellar hypoplasia type 4225753C1856974OMIM141427561608755
HP:0001257HP:0031958Spastic paraparetic gait2TSEN54 CL E G H283989225753Pontocerebellar hypoplasia type 4225753C1856974OMIM141427561608755
HP:0001257HP:0002313Spastic paraparesis2TTR CL E G H7276105210Amyloidogenic transthyretin amyloidosis105210C2751492OMIM137712405176300
HP:0001257HP:0001258Spastic paraplegia2TTR CL E G H7276105210Amyloidogenic transthyretin amyloidosis105210C2751492OMIM137712405176300
HP:0001257HP:0002478Progressive spastic quadriplegia2TTR CL E G H7276105210Amyloidogenic transthyretin amyloidosis105210C2751492OMIM137712405176300
HP:0001257HP:0031957Spastic hemiparetic gait2TTR CL E G H7276105210Amyloidogenic transthyretin amyloidosis105210C2751492OMIM137712405176300
HP:0001257HP:0031958Spastic paraparetic gait2TTR CL E G H7276105210Amyloidogenic transthyretin amyloidosis105210C2751492OMIM137712405176300
HP:0001257HP:0002313Spastic paraparesis2TUBB3 CL E G H10381614039Cortical dysplasia, complex, with other brain malformations 1614039C3808397OMIM132020772602661
HP:0001257HP:0001258Spastic paraplegia2TUBB3 CL E G H10381614039Cortical dysplasia, complex, with other brain malformations 1614039C3808397OMIM132020772602661
HP:0001257HP:0002478Progressive spastic quadriplegia2TUBB3 CL E G H10381614039Cortical dysplasia, complex, with other brain malformations 1614039C3808397OMIM132020772602661
HP:0001257HP:0031957Spastic hemiparetic gait2TUBB3 CL E G H10381614039Cortical dysplasia, complex, with other brain malformations 1614039C3808397OMIM132020772602661
HP:0001257HP:0031958Spastic paraparetic gait2TUBB3 CL E G H10381614039Cortical dysplasia, complex, with other brain malformations 1614039C3808397OMIM132020772602661
HP:0001257HP:0002313Spastic paraparesis2TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM127220774602662
HP:0001257HP:0001258Spastic paraplegia2TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM127220774602662
HP:0001257HP:0002478Progressive spastic quadriplegia2TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM127220774602662
HP:0001257HP:0031957Spastic hemiparetic gait2TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM127220774602662
HP:0001257HP:0031958Spastic paraparetic gait2TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM127220774602662
HP:0001257HP:0002313Spastic paraparesis2TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM17617772609063
HP:0001257HP:0001258Spastic paraplegia2TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM17617772609063
HP:0001257HP:0002478Progressive spastic quadriplegia2TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM17617772609063
HP:0001257HP:0031957Spastic hemiparetic gait2TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM17617772609063
HP:0001257HP:0031958Spastic paraparetic gait2TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM17617772609063
HP:0001257HP:0002313Spastic paraparesis2TYROBP CL E G H73052770ORPHA111012449604142
HP:0001257HP:0001258Spastic paraplegia2TYROBP CL E G H73052770ORPHA111012449604142
HP:0001257HP:0002478Progressive spastic quadriplegia2TYROBP CL E G H73052770ORPHA111012449604142
HP:0001257HP:0031957Spastic hemiparetic gait2TYROBP CL E G H73052770ORPHA111012449604142
HP:0001257HP:0031958Spastic paraparetic gait2TYROBP CL E G H73052770ORPHA111012449604142
HP:0001257HP:0002313Spastic paraparesis2TYROBP CL E G H7305221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy221770C1857316OMIM111012449604142
HP:0001257HP:0001258Spastic paraplegia2TYROBP CL E G H7305221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy221770C1857316OMIM111012449604142
HP:0001257HP:0002478Progressive spastic quadriplegia2TYROBP CL E G H7305221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy221770C1857316OMIM111012449604142
HP:0001257HP:0031957Spastic hemiparetic gait2TYROBP CL E G H7305221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy221770C1857316OMIM111012449604142
HP:0001257HP:0031958Spastic paraparetic gait2TYROBP CL E G H7305221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy221770C1857316OMIM111012449604142
HP:0001257HP:0002313Spastic paraparesis2UBA5 CL E G H79876617132Epileptic encephalopathy, early infantile, 44617132C4310700OMIM122323230610552
HP:0001257HP:0001258Spastic paraplegia2UBA5 CL E G H79876617132Epileptic encephalopathy, early infantile, 44617132C4310700OMIM122323230610552
HP:0001257HP:0002478Progressive spastic quadriplegia2UBA5 CL E G H79876617132Epileptic encephalopathy, early infantile, 44617132C4310700OMIM122323230610552
HP:0001257HP:0031957Spastic hemiparetic gait2UBA5 CL E G H79876617132Epileptic encephalopathy, early infantile, 44617132C4310700OMIM122323230610552
HP:0001257HP:0031958Spastic paraparetic gait2UBA5 CL E G H79876617132Epileptic encephalopathy, early infantile, 44617132C4310700OMIM122323230610552
HP:0001257HP:0002313Spastic paraparesis2UBQLN2 CL E G H29978803ORPHA127312509300264
HP:0001257HP:0001258Spastic paraplegia2UBQLN2 CL E G H29978803ORPHA127312509300264
HP:0001257HP:0002478Progressive spastic quadriplegia2UBQLN2 CL E G H29978803ORPHA127312509300264
HP:0001257HP:0031957Spastic hemiparetic gait2UBQLN2 CL E G H29978803ORPHA127312509300264
HP:0001257HP:0031958Spastic paraparetic gait2UBQLN2 CL E G H29978803ORPHA127312509300264
HP:0001257HP:0002313Spastic paraparesis2UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM18412511600673
HP:0001257HP:0001258Spastic paraplegia2UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM18412511600673
HP:0001257HP:0002478Progressive spastic quadriplegia2UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM18412511600673
HP:0001257HP:0031957Spastic hemiparetic gait2UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM18412511600673
HP:0001257HP:0031958Spastic paraparetic gait2UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM18412511600673
HP:0001257HP:0002313Spastic paraparesis2UFC1 CL E G H51506618076NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH618076CN252685OMIM13326941610554
HP:0001257HP:0001258Spastic paraplegia2UFC1 CL E G H51506618076NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH618076CN252685OMIM13326941610554
HP:0001257HP:0002478Progressive spastic quadriplegia2UFC1 CL E G H51506618076NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH618076CN252685OMIM13326941610554
HP:0001257HP:0031957Spastic hemiparetic gait2UFC1 CL E G H51506618076NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH618076CN252685OMIM13326941610554
HP:0001257HP:0031958Spastic paraparetic gait2UFC1 CL E G H51506618076NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH618076CN252685OMIM13326941610554
HP:0001257HP:0002313Spastic paraparesis2UFM1 CL E G H51569617899LEUKODYSTROPHY, HYPOMYELINATING, 14617899CN845004OMIM17720597610553
HP:0001257HP:0001258Spastic paraplegia2UFM1 CL E G H51569617899LEUKODYSTROPHY, HYPOMYELINATING, 14617899CN845004OMIM17720597610553
HP:0001257HP:0002478Progressive spastic quadriplegia2UFM1 CL E G H51569617899LEUKODYSTROPHY, HYPOMYELINATING, 14617899CN845004OMIM17720597610553
HP:0001257HP:0031957Spastic hemiparetic gait2UFM1 CL E G H51569617899LEUKODYSTROPHY, HYPOMYELINATING, 14617899CN845004OMIM17720597610553
HP:0001257HP:0031958Spastic paraparetic gait2UFM1 CL E G H51569617899LEUKODYSTROPHY, HYPOMYELINATING, 14617899CN845004OMIM17720597610553
HP:0001257HP:0002313Spastic paraparesis2UNC13A CL E G H23025803ORPHA114023150609894
HP:0001257HP:0001258Spastic paraplegia2UNC13A CL E G H23025803ORPHA114023150609894
HP:0001257HP:0002478Progressive spastic quadriplegia2UNC13A CL E G H23025803ORPHA114023150609894
HP:0001257HP:0031957Spastic hemiparetic gait2UNC13A CL E G H23025803ORPHA114023150609894
HP:0001257HP:0031958Spastic paraparetic gait2UNC13A CL E G H23025803ORPHA114023150609894
HP:0001257HP:0002313Spastic paraparesis2UNC80 CL E G H285175616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 2616801C4225203OMIM1181626582612636
HP:0001257HP:0001258Spastic paraplegia2UNC80 CL E G H285175616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 2616801C4225203OMIM1181626582612636
HP:0001257HP:0002478Progressive spastic quadriplegia2UNC80 CL E G H285175616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 2616801C4225203OMIM1181626582612636
HP:0001257HP:0031957Spastic hemiparetic gait2UNC80 CL E G H285175616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 2616801C4225203OMIM1181626582612636
HP:0001257HP:0031958Spastic paraparetic gait2UNC80 CL E G H285175616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 2616801C4225203OMIM1181626582612636
HP:0001257HP:0002313Spastic paraparesis2VAPB CL E G H9217803ORPHA135912649605704
HP:0001257HP:0001258Spastic paraplegia2VAPB CL E G H9217803ORPHA135912649605704
HP:0001257HP:0002478Progressive spastic quadriplegia2VAPB CL E G H9217803ORPHA135912649605704
HP:0001257HP:0031957Spastic hemiparetic gait2VAPB CL E G H9217803ORPHA135912649605704
HP:0001257HP:0031958Spastic paraparetic gait2VAPB CL E G H9217803ORPHA135912649605704
HP:0001257HP:0002313Spastic paraparesis2VCP CL E G H7415803ORPHA160712666601023
HP:0001257HP:0001258Spastic paraplegia2VCP CL E G H7415803ORPHA160712666601023
HP:0001257HP:0002478Progressive spastic quadriplegia2VCP CL E G H7415803ORPHA160712666601023
HP:0001257HP:0031957Spastic hemiparetic gait2VCP CL E G H7415803ORPHA160712666601023
HP:0001257HP:0031958Spastic paraparetic gait2VCP CL E G H7415803ORPHA160712666601023
HP:0001257HP:0002313Spastic paraparesis2VPS11 CL E G H55823466934ORPHA122814583608549
HP:0001257HP:0001258Spastic paraplegia2VPS11 CL E G H55823466934ORPHA122814583608549
HP:0001257HP:0002478Progressive spastic quadriplegia2VPS11 CL E G H55823466934ORPHA122814583608549
HP:0001257HP:0031957Spastic hemiparetic gait2VPS11 CL E G H55823466934ORPHA122814583608549
HP:0001257HP:0031958Spastic paraparetic gait2VPS11 CL E G H55823466934ORPHA122814583608549
HP:0001257HP:0002313Spastic paraparesis2VPS11 CL E G H55823616683Leukodystrophy, hypomyelinating, 12616683C4225247OMIM122814583608549
HP:0001257HP:0001258Spastic paraplegia2VPS11 CL E G H55823616683Leukodystrophy, hypomyelinating, 12616683C4225247OMIM122814583608549
HP:0001257HP:0002478Progressive spastic quadriplegia2VPS11 CL E G H55823616683Leukodystrophy, hypomyelinating, 12616683C4225247OMIM122814583608549
HP:0001257HP:0031957Spastic hemiparetic gait2VPS11 CL E G H55823616683Leukodystrophy, hypomyelinating, 12616683C4225247OMIM122814583608549
HP:0001257HP:0031958Spastic paraparetic gait2VPS11 CL E G H55823616683Leukodystrophy, hypomyelinating, 12616683C4225247OMIM122814583608549
HP:0001257HP:0002313Spastic paraparesis2VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0001257HP:0001258Spastic paraplegia2VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0001257HP:0002478Progressive spastic quadriplegia2VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0001257HP:0031957Spastic hemiparetic gait2VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0001257HP:0031958Spastic paraparetic gait2VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0001257HP:0002313Spastic paraparesis2WDR73 CL E G H8494283472ORPHA122025928616144
HP:0001257HP:0001258Spastic paraplegia2WDR73 CL E G H8494283472ORPHA122025928616144
HP:0001257HP:0002478Progressive spastic quadriplegia2WDR73 CL E G H8494283472ORPHA122025928616144
HP:0001257HP:0031957Spastic hemiparetic gait2WDR73 CL E G H8494283472ORPHA122025928616144
HP:0001257HP:0031958Spastic paraparetic gait2WDR73 CL E G H8494283472ORPHA122025928616144
HP:0001257HP:0002313Spastic paraparesis2WWOX CL E G H51741616211Epileptic encephalopathy, early infantile, 28616211C4015519OMIM1110212799605131
HP:0001257HP:0001258Spastic paraplegia2WWOX CL E G H51741616211Epileptic encephalopathy, early infantile, 28616211C4015519OMIM1110212799605131
HP:0001257HP:0002478Progressive spastic quadriplegia2WWOX CL E G H51741616211Epileptic encephalopathy, early infantile, 28616211C4015519OMIM1110212799605131
HP:0001257HP:0031957Spastic hemiparetic gait2WWOX CL E G H51741616211Epileptic encephalopathy, early infantile, 28616211C4015519OMIM1110212799605131
HP:0001257HP:0031958Spastic paraparetic gait2WWOX CL E G H51741616211Epileptic encephalopathy, early infantile, 28616211C4015519OMIM1110212799605131
HP:0001257HP:0002313Spastic paraparesis2XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM132112814611153
HP:0001257HP:0001258Spastic paraplegia2XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM132112814611153
HP:0001257HP:0002478Progressive spastic quadriplegia2XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM132112814611153
HP:0001257HP:0031957Spastic hemiparetic gait2XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM132112814611153
HP:0001257HP:0031958Spastic paraparetic gait2XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM132112814611153
HP:0001257HP:0002313Spastic paraparesis2ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM127924931300897
HP:0001257HP:0001258Spastic paraplegia2ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM127924931300897
HP:0001257HP:0002478Progressive spastic quadriplegia2ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM127924931300897
HP:0001257HP:0031957Spastic hemiparetic gait2ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM127924931300897
HP:0001257HP:0031958Spastic paraparetic gait2ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM127924931300897
HP:0001257HP:0002313Spastic paraparesis2ZNF335 CL E G H63925615095Primary autosomal recessive microcephaly 10615095C3554499OMIM150715807610827
HP:0001257HP:0001258Spastic paraplegia2ZNF335 CL E G H63925615095Primary autosomal recessive microcephaly 10615095C3554499OMIM150715807610827
HP:0001257HP:0002478Progressive spastic quadriplegia2ZNF335 CL E G H63925615095Primary autosomal recessive microcephaly 10615095C3554499OMIM150715807610827
HP:0001257HP:0031957Spastic hemiparetic gait2ZNF335 CL E G H63925615095Primary autosomal recessive microcephaly 10615095C3554499OMIM150715807610827
HP:0001257HP:0031958Spastic paraparetic gait2ZNF335 CL E G H63925615095Primary autosomal recessive microcephaly 10615095C3554499OMIM150715807610827
HP:0001257HP:0002313Spastic paraparesis2ZNF592 CL E G H964083472ORPHA112828986613624
HP:0001257HP:0001258Spastic paraplegia2ZNF592 CL E G H964083472ORPHA112828986613624
HP:0001257HP:0002478Progressive spastic quadriplegia2ZNF592 CL E G H964083472ORPHA112828986613624
HP:0001257HP:0031957Spastic hemiparetic gait2ZNF592 CL E G H964083472ORPHA112828986613624
HP:0001257HP:0031958Spastic paraparetic gait2ZNF592 CL E G H964083472ORPHA112828986613624
HP:0001257HP:0007199Progressive spastic paraparesis3AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0001257HP:0007020Progressive spastic paraplegia3AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0001257HP:0012407Scissor gait3AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0001257HP:0007199Progressive spastic paraparesis3AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM154321022612035
HP:0001257HP:0007020Progressive spastic paraplegia3AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM154321022612035
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM154321022612035
HP:0001257HP:0012407Scissor gait3AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM154321022612035
HP:0001257HP:0007199Progressive spastic paraparesis3ABCC8 CL E G H6833240800Leucine-induced hypoglycemia240800C0271714OMIM1189259600509
HP:0001257HP:0007020Progressive spastic paraplegia3ABCC8 CL E G H6833240800Leucine-induced hypoglycemia240800C0271714OMIM1189259600509
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3ABCC8 CL E G H6833240800Leucine-induced hypoglycemia240800C0271714OMIM1189259600509
HP:0001257HP:0012407Scissor gait3ABCC8 CL E G H6833240800Leucine-induced hypoglycemia240800C0271714OMIM1189259600509
HP:0001257HP:0007199Progressive spastic paraparesis3ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM152915868613599
HP:0001257HP:0007020Progressive spastic paraplegia3ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM152915868613599
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM152915868613599
HP:0001257HP:0012407Scissor gait3ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM152915868613599
HP:0001257HP:0007199Progressive spastic paraparesis3ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM17316066617036
HP:0001257HP:0007020Progressive spastic paraplegia3ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM17316066617036
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM17316066617036
HP:0001257HP:0012407Scissor gait3ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM17316066617036
HP:0001257HP:0007199Progressive spastic paraparesis3ADAM22 CL E G H53616617933Early infantile epileptic encephalopathy 61617933CN244550OMIM189201603709
HP:0001257HP:0007020Progressive spastic paraplegia3ADAM22 CL E G H53616617933Early infantile epileptic encephalopathy 61617933CN244550OMIM189201603709
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3ADAM22 CL E G H53616617933Early infantile epileptic encephalopathy 61617933CN244550OMIM189201603709
HP:0001257HP:0012407Scissor gait3ADAM22 CL E G H53616617933Early infantile epileptic encephalopathy 61617933CN244550OMIM189201603709
HP:0001257HP:0007199Progressive spastic paraparesis3AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1480315604581
HP:0001257HP:0007020Progressive spastic paraplegia3AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1480315604581
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1480315604581
HP:0001257HP:0012407Scissor gait3AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1480315604581
HP:0001257HP:0007199Progressive spastic paraparesis3AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1509318613228
HP:0001257HP:0007020Progressive spastic paraplegia3AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1509318613228
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1509318613228
HP:0001257HP:0012407Scissor gait3AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1509318613228
HP:0001257HP:0007199Progressive spastic paraparesis3ALDH18A1 CL E G H5832616586Spastic paraplegia 9b, autosomal recessive616586C4225272OMIM15869722138250
HP:0001257HP:0007020Progressive spastic paraplegia3ALDH18A1 CL E G H5832616586Spastic paraplegia 9b, autosomal recessive616586C4225272OMIM15869722138250
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3ALDH18A1 CL E G H5832616586Spastic paraplegia 9b, autosomal recessive616586C4225272OMIM15869722138250
HP:0001257HP:0012407Scissor gait3ALDH18A1 CL E G H5832616586Spastic paraplegia 9b, autosomal recessive616586C4225272OMIM15869722138250
HP:0001257HP:0007199Progressive spastic paraparesis3ALDH3A2 CL E G H224270200Sjögren-Larsson syndrome270200C0037231OMIM1635403609523
HP:0001257HP:0007020Progressive spastic paraplegia3ALDH3A2 CL E G H224270200Sjögren-Larsson syndrome270200C0037231OMIM1635403609523
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3ALDH3A2 CL E G H224270200Sjögren-Larsson syndrome270200C0037231OMIM1635403609523
HP:0001257HP:0012407Scissor gait3ALDH3A2 CL E G H224270200Sjögren-Larsson syndrome270200C0037231OMIM1635403609523
HP:0001257HP:0007199Progressive spastic paraparesis3ALS2 CL E G H57679300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1947443606352
HP:0001257HP:0007020Progressive spastic paraplegia3ALS2 CL E G H57679300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1947443606352
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3ALS2 CL E G H57679300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1947443606352
HP:0001257HP:0012407Scissor gait3ALS2 CL E G H57679300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1947443606352
HP:0001257HP:0007199Progressive spastic paraparesis3AMACR CL E G H23600614307Alpha-methylacyl-CoA racemase deficiency614307C3280428OMIM1392451604489
HP:0001257HP:0007020Progressive spastic paraplegia3AMACR CL E G H23600614307Alpha-methylacyl-CoA racemase deficiency614307C3280428OMIM1392451604489
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3AMACR CL E G H23600614307Alpha-methylacyl-CoA racemase deficiency614307C3280428OMIM1392451604489
HP:0001257HP:0012407Scissor gait3AMACR CL E G H23600614307Alpha-methylacyl-CoA racemase deficiency614307C3280428OMIM1392451604489
HP:0001257HP:0007199Progressive spastic paraparesis3AMPD2 CL E G H271615809Pontocerebellar hypoplasia, type 9615809C4014354OMIM1392469102771
HP:0001257HP:0007020Progressive spastic paraplegia3AMPD2 CL E G H271615809Pontocerebellar hypoplasia, type 9615809C4014354OMIM1392469102771
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3AMPD2 CL E G H271615809Pontocerebellar hypoplasia, type 9615809C4014354OMIM1392469102771
HP:0001257HP:0012407Scissor gait3AMPD2 CL E G H271615809Pontocerebellar hypoplasia, type 9615809C4014354OMIM1392469102771
HP:0001257HP:0007199Progressive spastic paraparesis3ANG CL E G H283803ORPHA1114483105850
HP:0001257HP:0007020Progressive spastic paraplegia3ANG CL E G H283803ORPHA1114483105850
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3ANG CL E G H283803ORPHA1114483105850
HP:0001257HP:0012407Scissor gait3ANG CL E G H283803ORPHA1114483105850
HP:0001257HP:0007199Progressive spastic paraparesis3ANG CL E G H283611895Amyotrophic lateral sclerosis type 9611895C2678468OMIM1114483105850
HP:0001257HP:0007020Progressive spastic paraplegia3ANG CL E G H283611895Amyotrophic lateral sclerosis type 9611895C2678468OMIM1114483105850
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3ANG CL E G H283611895Amyotrophic lateral sclerosis type 9611895C2678468OMIM1114483105850
HP:0001257HP:0012407Scissor gait3ANG CL E G H283611895Amyotrophic lateral sclerosis type 9611895C2678468OMIM1114483105850
HP:0001257HP:0007199Progressive spastic paraparesis3ANK3 CL E G H288615493Mental retardation, autosomal recessive 37615493C3809672OMIM11073494600465
HP:0001257HP:0007020Progressive spastic paraplegia3ANK3 CL E G H288615493Mental retardation, autosomal recessive 37615493C3809672OMIM11073494600465
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3ANK3 CL E G H288615493Mental retardation, autosomal recessive 37615493C3809672OMIM11073494600465
HP:0001257HP:0012407Scissor gait3ANK3 CL E G H288615493Mental retardation, autosomal recessive 37615493C3809672OMIM11073494600465
HP:0001257HP:0007199Progressive spastic paraparesis3ANXA11 CL E G H311803ORPHA1305535602572
HP:0001257HP:0007020Progressive spastic paraplegia3ANXA11 CL E G H311803ORPHA1305535602572
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3ANXA11 CL E G H311803ORPHA1305535602572
HP:0001257HP:0012407Scissor gait3ANXA11 CL E G H311803ORPHA1305535602572
HP:0001257HP:0007199Progressive spastic paraparesis3AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0001257HP:0007020Progressive spastic paraplegia3AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0001257HP:0012407Scissor gait3AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0001257HP:0007199Progressive spastic paraparesis3AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1403572607245
HP:0001257HP:0007020Progressive spastic paraplegia3AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1403572607245
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1403572607245
HP:0001257HP:0012407Scissor gait3AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1403572607245
HP:0001257HP:0007199Progressive spastic paraparesis3AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1148575607243
HP:0001257HP:0007020Progressive spastic paraplegia3AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1148575607243
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1148575607243
HP:0001257HP:0012407Scissor gait3AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1148575607243
HP:0001257HP:0007199Progressive spastic paraparesis3ARF1 CL E G H375618185PERIVENTRICULAR NODULAR HETEROTOPIA 8618185OMIM166652103180
HP:0001257HP:0007020Progressive spastic paraplegia3ARF1 CL E G H375618185PERIVENTRICULAR NODULAR HETEROTOPIA 8618185OMIM166652103180
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3ARF1 CL E G H375618185PERIVENTRICULAR NODULAR HETEROTOPIA 8618185OMIM166652103180
HP:0001257HP:0012407Scissor gait3ARF1 CL E G H375618185PERIVENTRICULAR NODULAR HETEROTOPIA 8618185OMIM166652103180
HP:0001257HP:0007199Progressive spastic paraparesis3ARNT2 CL E G H9915615926Webb-Dattani syndrome615926C4014708OMIM119416876606036
HP:0001257HP:0007020Progressive spastic paraplegia3ARNT2 CL E G H9915615926Webb-Dattani syndrome615926C4014708OMIM119416876606036
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3ARNT2 CL E G H9915615926Webb-Dattani syndrome615926C4014708OMIM119416876606036
HP:0001257HP:0012407Scissor gait3ARNT2 CL E G H9915615926Webb-Dattani syndrome615926C4014708OMIM119416876606036
HP:0001257HP:0007199Progressive spastic paraparesis3ARX CL E G H1703022508ORPHA181018060300382
HP:0001257HP:0007020Progressive spastic paraplegia3ARX CL E G H1703022508ORPHA181018060300382
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3ARX CL E G H1703022508ORPHA181018060300382
HP:0001257HP:0012407Scissor gait3ARX CL E G H1703022508ORPHA181018060300382
HP:0001257HP:0007199Progressive spastic paraparesis3ARX CL E G H1703023175ORPHA181018060300382
HP:0001257HP:0007020Progressive spastic paraplegia3ARX CL E G H1703023175ORPHA181018060300382
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3ARX CL E G H1703023175ORPHA181018060300382
HP:0001257HP:0012407Scissor gait3ARX CL E G H1703023175ORPHA181018060300382
HP:0001257HP:0007199Progressive spastic paraparesis3ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001257HP:0007020Progressive spastic paraplegia3ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001257HP:0012407Scissor gait3ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001257HP:0007199Progressive spastic paraparesis3ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM181018060300382
HP:0001257HP:0007020Progressive spastic paraplegia3ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM181018060300382
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM181018060300382
HP:0001257HP:0012407Scissor gait3ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM181018060300382
HP:0001257HP:0007199Progressive spastic paraparesis3ASPA CL E G H443314911ORPHA1388756608034
HP:0001257HP:0007020Progressive spastic paraplegia3ASPA CL E G H443314911ORPHA1388756608034
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3ASPA CL E G H443314911ORPHA1388756608034
HP:0001257HP:0012407Scissor gait3ASPA CL E G H443314911ORPHA1388756608034
HP:0001257HP:0007199Progressive spastic paraparesis3ATAD1 CL E G H848963197Lateral body wall defectORPHA118325903614452
HP:0001257HP:0007020Progressive spastic paraplegia3ATAD1 CL E G H848963197Lateral body wall defectORPHA118325903614452
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3ATAD1 CL E G H848963197Lateral body wall defectORPHA118325903614452
HP:0001257HP:0012407Scissor gait3ATAD1 CL E G H848963197Lateral body wall defectORPHA118325903614452
HP:0001257HP:0007199Progressive spastic paraparesis3ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM139925567612316
HP:0001257HP:0007020Progressive spastic paraplegia3ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM139925567612316
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM139925567612316
HP:0001257HP:0012407Scissor gait3ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM139925567612316
HP:0001257HP:0007199Progressive spastic paraparesis3ATM CL E G H472100ORPHA114692795607585
HP:0001257HP:0007020Progressive spastic paraplegia3ATM CL E G H472100ORPHA114692795607585
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3ATM CL E G H472100ORPHA114692795607585
HP:0001257HP:0012407Scissor gait3ATM CL E G H472100ORPHA114692795607585
HP:0001257HP:0007199Progressive spastic paraparesis3ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM197430213610513
HP:0001257HP:0007020Progressive spastic paraplegia3ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM197430213610513
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM197430213610513
HP:0001257HP:0012407Scissor gait3ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM197430213610513
HP:0001257HP:0007199Progressive spastic paraparesis3ATP6V0A2 CL E G H23545357074ORPHA161018481611716
HP:0001257HP:0007020Progressive spastic paraplegia3ATP6V0A2 CL E G H23545357074ORPHA161018481611716
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3ATP6V0A2 CL E G H23545357074ORPHA161018481611716
HP:0001257HP:0012407Scissor gait3ATP6V0A2 CL E G H23545357074ORPHA161018481611716
HP:0001257HP:0007199Progressive spastic paraparesis3ATP6V1A CL E G H523357074ORPHA1229851607027
HP:0001257HP:0007020Progressive spastic paraplegia3ATP6V1A CL E G H523357074ORPHA1229851607027
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3ATP6V1A CL E G H523357074ORPHA1229851607027
HP:0001257HP:0012407Scissor gait3ATP6V1A CL E G H523357074ORPHA1229851607027
HP:0001257HP:0007199Progressive spastic paraparesis3ATP6V1E1 CL E G H529357074ORPHA1196857108746
HP:0001257HP:0007020Progressive spastic paraplegia3ATP6V1E1 CL E G H529357074ORPHA1196857108746
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3ATP6V1E1 CL E G H529357074ORPHA1196857108746
HP:0001257HP:0012407Scissor gait3ATP6V1E1 CL E G H529357074ORPHA1196857108746
HP:0001257HP:0007199Progressive spastic paraparesis3ATP7A CL E G H538565ORPHA11751869300011
HP:0001257HP:0007020Progressive spastic paraplegia3ATP7A CL E G H538565ORPHA11751869300011
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3ATP7A CL E G H538565ORPHA11751869300011
HP:0001257HP:0012407Scissor gait3ATP7A CL E G H538565ORPHA11751869300011
HP:0001257HP:0007199Progressive spastic paraparesis3ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11925886300032
HP:0001257HP:0007020Progressive spastic paraplegia3ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11925886300032
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11925886300032
HP:0001257HP:0012407Scissor gait3ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11925886300032
HP:0001257HP:0007199Progressive spastic paraparesis3ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM112010548601556
HP:0001257HP:0007020Progressive spastic paraplegia3ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM112010548601556
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM112010548601556
HP:0001257HP:0012407Scissor gait3ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM112010548601556
HP:0001257HP:0007199Progressive spastic paraparesis3ATXN2 CL E G H6311803ORPHA111510555601517
HP:0001257HP:0007020Progressive spastic paraplegia3ATXN2 CL E G H6311803ORPHA111510555601517
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3ATXN2 CL E G H6311803ORPHA111510555601517
HP:0001257HP:0012407Scissor gait3ATXN2 CL E G H6311803ORPHA111510555601517
HP:0001257HP:0007199Progressive spastic paraparesis3ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM111510555601517
HP:0001257HP:0007020Progressive spastic paraplegia3ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM111510555601517
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM111510555601517
HP:0001257HP:0012407Scissor gait3ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM111510555601517
HP:0001257HP:0007199Progressive spastic paraparesis3ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0001257HP:0007020Progressive spastic paraplegia3ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0001257HP:0012407Scissor gait3ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0001257HP:0007199Progressive spastic paraparesis3ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0001257HP:0007020Progressive spastic paraplegia3ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0001257HP:0012407Scissor gait3ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0001257HP:0007199Progressive spastic paraparesis3ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0001257HP:0007020Progressive spastic paraplegia3ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0001257HP:0012407Scissor gait3ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0001257HP:0007199Progressive spastic paraparesis3ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM19810560607640
HP:0001257HP:0007020Progressive spastic paraplegia3ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM19810560607640
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM19810560607640
HP:0001257HP:0012407Scissor gait3ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM19810560607640
HP:0001257HP:0007199Progressive spastic paraparesis3ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0001257HP:0007020Progressive spastic paraplegia3ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0001257HP:0012407Scissor gait3ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0001257HP:0007199Progressive spastic paraparesis3ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM18710561603680
HP:0001257HP:0007020Progressive spastic paraplegia3ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM18710561603680
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM18710561603680
HP:0001257HP:0012407Scissor gait3ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM18710561603680
HP:0001257HP:0007199Progressive spastic paraparesis3B4GAT1 CL E G H11041615287Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13615287C3809042OMIM120515685605517
HP:0001257HP:0007020Progressive spastic paraplegia3B4GAT1 CL E G H11041615287Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13615287C3809042OMIM120515685605517
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3B4GAT1 CL E G H11041615287Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13615287C3809042OMIM120515685605517
HP:0001257HP:0012407Scissor gait3B4GAT1 CL E G H11041615287Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13615287C3809042OMIM120515685605517
HP:0001257HP:0007199Progressive spastic paraparesis3BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0001257HP:0007020Progressive spastic paraplegia3BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0001257HP:0012407Scissor gait3BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0001257HP:0007199Progressive spastic paraparesis3BCL11B CL E G H64919618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES618092CN253429OMIM152513222606558
HP:0001257HP:0007020Progressive spastic paraplegia3BCL11B CL E G H64919618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES618092CN253429OMIM152513222606558
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3BCL11B CL E G H64919618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES618092CN253429OMIM152513222606558
HP:0001257HP:0012407Scissor gait3BCL11B CL E G H64919618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES618092CN253429OMIM152513222606558
HP:0001257HP:0007199Progressive spastic paraparesis3BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0001257HP:0007020Progressive spastic paraplegia3BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0001257HP:0012407Scissor gait3BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0001257HP:0007199Progressive spastic paraparesis3BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM14131020603647
HP:0001257HP:0007020Progressive spastic paraplegia3BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM14131020603647
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM14131020603647
HP:0001257HP:0012407Scissor gait3BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM14131020603647
HP:0001257HP:0007199Progressive spastic paraparesis3BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM110224415613183
HP:0001257HP:0007020Progressive spastic paraplegia3BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM110224415613183
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM110224415613183
HP:0001257HP:0012407Scissor gait3BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM110224415613183
HP:0001257HP:0007199Progressive spastic paraparesis3BSCL2 CL E G H26580363400ORPHA151015832606158
HP:0001257HP:0007020Progressive spastic paraplegia3BSCL2 CL E G H26580363400ORPHA151015832606158
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3BSCL2 CL E G H26580363400ORPHA151015832606158
HP:0001257HP:0012407Scissor gait3BSCL2 CL E G H26580363400ORPHA151015832606158
HP:0001257HP:0007199Progressive spastic paraparesis3BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001257HP:0007020Progressive spastic paraplegia3BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001257HP:0012407Scissor gait3BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001257HP:0007199Progressive spastic paraparesis3C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM130725443614297
HP:0001257HP:0007020Progressive spastic paraplegia3C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM130725443614297
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM130725443614297
HP:0001257HP:0012407Scissor gait3C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM130725443614297
HP:0001257HP:0007199Progressive spastic paraparesis3C19orf12 CL E G H83636615043Spastic paraplegia 43, autosomal recessive615043C2680446OMIM130725443614297
HP:0001257HP:0007020Progressive spastic paraplegia3C19orf12 CL E G H83636615043Spastic paraplegia 43, autosomal recessive615043C2680446OMIM130725443614297
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3C19orf12 CL E G H83636615043Spastic paraplegia 43, autosomal recessive615043C2680446OMIM130725443614297
HP:0001257HP:0012407Scissor gait3C19orf12 CL E G H83636615043Spastic paraplegia 43, autosomal recessive615043C2680446OMIM130725443614297
HP:0001257HP:0007199Progressive spastic paraparesis3C9orf72 CL E G H203228803ORPHA117728337614260
HP:0001257HP:0007020Progressive spastic paraplegia3C9orf72 CL E G H203228803ORPHA117728337614260
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3C9orf72 CL E G H203228803ORPHA117728337614260
HP:0001257HP:0012407Scissor gait3C9orf72 CL E G H203228803ORPHA117728337614260
HP:0001257HP:0007199Progressive spastic paraparesis3CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM18221394604065
HP:0001257HP:0007020Progressive spastic paraplegia3CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM18221394604065
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM18221394604065
HP:0001257HP:0012407Scissor gait3CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM18221394604065
HP:0001257HP:0007199Progressive spastic paraparesis3CAMK2A CL E G H815618095MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63618095CN253430OMIM11161460114078
HP:0001257HP:0007020Progressive spastic paraplegia3CAMK2A CL E G H815618095MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63618095CN253430OMIM11161460114078
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3CAMK2A CL E G H815618095MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63618095CN253430OMIM11161460114078
HP:0001257HP:0012407Scissor gait3CAMK2A CL E G H815618095MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63618095CN253430OMIM11161460114078
HP:0001257HP:0007199Progressive spastic paraparesis3CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM18441497300172
HP:0001257HP:0007020Progressive spastic paraplegia3CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM18441497300172
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM18441497300172
HP:0001257HP:0012407Scissor gait3CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM18441497300172
HP:0001257HP:0007199Progressive spastic paraparesis3CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1152529253612013
HP:0001257HP:0007020Progressive spastic paraplegia3CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1152529253612013
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1152529253612013
HP:0001257HP:0012407Scissor gait3CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1152529253612013
HP:0001257HP:0007199Progressive spastic paraparesis3CCNF CL E G H899803ORPHA11511591600227
HP:0001257HP:0007020Progressive spastic paraplegia3CCNF CL E G H899803ORPHA11511591600227
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3CCNF CL E G H899803ORPHA11511591600227
HP:0001257HP:0012407Scissor gait3CCNF CL E G H899803ORPHA11511591600227
HP:0001257HP:0007199Progressive spastic paraparesis3CDKL5 CL E G H67923095ORPHA1173811411300203
HP:0001257HP:0007020Progressive spastic paraplegia3CDKL5 CL E G H67923095ORPHA1173811411300203
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3CDKL5 CL E G H67923095ORPHA1173811411300203
HP:0001257HP:0012407Scissor gait3CDKL5 CL E G H67923095ORPHA1173811411300203
HP:0001257HP:0007199Progressive spastic paraparesis3CFAP410 CL E G H755803ORPHA14591260603191
HP:0001257HP:0007020Progressive spastic paraplegia3CFAP410 CL E G H755803ORPHA14591260603191
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3CFAP410 CL E G H755803ORPHA14591260603191
HP:0001257HP:0012407Scissor gait3CFAP410 CL E G H755803ORPHA14591260603191
HP:0001257HP:0007199Progressive spastic paraparesis3CHCHD10 CL E G H400916803ORPHA129715559615903
HP:0001257HP:0007020Progressive spastic paraplegia3CHCHD10 CL E G H400916803ORPHA129715559615903
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3CHCHD10 CL E G H400916803ORPHA129715559615903
HP:0001257HP:0012407Scissor gait3CHCHD10 CL E G H400916803ORPHA129715559615903
HP:0001257HP:0007199Progressive spastic paraparesis3CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM12488740164010
HP:0001257HP:0007020Progressive spastic paraplegia3CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM12488740164010
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM12488740164010
HP:0001257HP:0012407Scissor gait3CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM12488740164010
HP:0001257HP:0007199Progressive spastic paraparesis3CHMP2B CL E G H25978803ORPHA116024537609512
HP:0001257HP:0007020Progressive spastic paraplegia3CHMP2B CL E G H25978803ORPHA116024537609512
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3CHMP2B CL E G H25978803ORPHA116024537609512
HP:0001257HP:0012407Scissor gait3CHMP2B CL E G H25978803ORPHA116024537609512
HP:0001257HP:0007199Progressive spastic paraparesis3CIT CL E G H11113617090Microcephaly 17, primary, autosomal recessive617090C4310723OMIM15141985605629
HP:0001257HP:0007020Progressive spastic paraplegia3CIT CL E G H11113617090Microcephaly 17, primary, autosomal recessive617090C4310723OMIM15141985605629
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3CIT CL E G H11113617090Microcephaly 17, primary, autosomal recessive617090C4310723OMIM15141985605629
HP:0001257HP:0012407Scissor gait3CIT CL E G H11113617090Microcephaly 17, primary, autosomal recessive617090C4310723OMIM15141985605629
HP:0001257HP:0007199Progressive spastic paraparesis3CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA116826877616174
HP:0001257HP:0007020Progressive spastic paraplegia3CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA116826877616174
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA116826877616174
HP:0001257HP:0012407Scissor gait3CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA116826877616174
HP:0001257HP:0007199Progressive spastic paraparesis3CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0001257HP:0007020Progressive spastic paraplegia3CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0001257HP:0012407Scissor gait3CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0001257HP:0007199Progressive spastic paraparesis3CLP1 CL E G H10978411493ORPHA19716999608757
HP:0001257HP:0007020Progressive spastic paraplegia3CLP1 CL E G H10978411493ORPHA19716999608757
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3CLP1 CL E G H10978411493ORPHA19716999608757
HP:0001257HP:0012407Scissor gait3CLP1 CL E G H10978411493ORPHA19716999608757
HP:0001257HP:0007199Progressive spastic paraparesis3CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM19716999608757
HP:0001257HP:0007020Progressive spastic paraplegia3CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM19716999608757
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM19716999608757
HP:0001257HP:0012407Scissor gait3CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM19716999608757
HP:0001257HP:0007199Progressive spastic paraparesis3CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM158530664616254
HP:0001257HP:0007020Progressive spastic paraplegia3CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM158530664616254
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM158530664616254
HP:0001257HP:0012407Scissor gait3CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM158530664616254
HP:0001257HP:0007199Progressive spastic paraparesis3CLTC CL E G H1213617854MENTAL RETARDATION, AUTOSOMAL DOMINANT 56617854CN787270OMIM16452092118955
HP:0001257HP:0007020Progressive spastic paraplegia3CLTC CL E G H1213617854MENTAL RETARDATION, AUTOSOMAL DOMINANT 56617854CN787270OMIM16452092118955
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3CLTC CL E G H1213617854MENTAL RETARDATION, AUTOSOMAL DOMINANT 56617854CN787270OMIM16452092118955
HP:0001257HP:0012407Scissor gait3CLTC CL E G H1213617854MENTAL RETARDATION, AUTOSOMAL DOMINANT 56617854CN787270OMIM16452092118955
HP:0001257HP:0007199Progressive spastic paraparesis3CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM14258011602346
HP:0001257HP:0007020Progressive spastic paraplegia3CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM14258011602346
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM14258011602346
HP:0001257HP:0012407Scissor gait3CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM14258011602346
HP:0001257HP:0007199Progressive spastic paraparesis3CNTNAP2 CL E G H26047610042Pitt-Hopkins-like syndrome 1610042C2750246OMIM1186713830604569
HP:0001257HP:0007020Progressive spastic paraplegia3CNTNAP2 CL E G H26047610042Pitt-Hopkins-like syndrome 1610042C2750246OMIM1186713830604569
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3CNTNAP2 CL E G H26047610042Pitt-Hopkins-like syndrome 1610042C2750246OMIM1186713830604569
HP:0001257HP:0012407Scissor gait3CNTNAP2 CL E G H26047610042Pitt-Hopkins-like syndrome 1610042C2750246OMIM1186713830604569
HP:0001257HP:0007199Progressive spastic paraparesis3COL4A1 CL E G H1282175780Porencephaly 1175780CN032791OMIM117852202120130
HP:0001257HP:0007020Progressive spastic paraplegia3COL4A1 CL E G H1282175780Porencephaly 1175780CN032791OMIM117852202120130
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3COL4A1 CL E G H1282175780Porencephaly 1175780CN032791OMIM117852202120130
HP:0001257HP:0012407Scissor gait3COL4A1 CL E G H1282175780Porencephaly 1175780CN032791OMIM117852202120130
HP:0001257HP:0007199Progressive spastic paraparesis3COL4A2 CL E G H1284614483Porencephaly 2614483C3280970OMIM113712203120090
HP:0001257HP:0007020Progressive spastic paraplegia3COL4A2 CL E G H1284614483Porencephaly 2614483C3280970OMIM113712203120090
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3COL4A2 CL E G H1284614483Porencephaly 2614483C3280970OMIM113712203120090
HP:0001257HP:0012407Scissor gait3COL4A2 CL E G H1284614483Porencephaly 2614483C3280970OMIM113712203120090
HP:0001257HP:0007199Progressive spastic paraparesis3COPB2 CL E G H9276617800MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE617800C4540488OMIM1992232606990
HP:0001257HP:0007020Progressive spastic paraplegia3COPB2 CL E G H9276617800MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE617800C4540488OMIM1992232606990
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3COPB2 CL E G H9276617800MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE617800C4540488OMIM1992232606990
HP:0001257HP:0012407Scissor gait3COPB2 CL E G H9276617800MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE617800C4540488OMIM1992232606990
HP:0001257HP:0007199Progressive spastic paraparesis3COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0001257HP:0007020Progressive spastic paraplegia3COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0001257HP:0012407Scissor gait3COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0001257HP:0007199Progressive spastic paraparesis3COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0001257HP:0007020Progressive spastic paraplegia3COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0001257HP:0012407Scissor gait3COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0001257HP:0007199Progressive spastic paraparesis3CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM16962433164770
HP:0001257HP:0007020Progressive spastic paraplegia3CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM16962433164770
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM16962433164770
HP:0001257HP:0012407Scissor gait3CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM16962433164770
HP:0001257HP:0007199Progressive spastic paraparesis3CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0001257HP:0007020Progressive spastic paraplegia3CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0001257HP:0012407Scissor gait3CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0001257HP:0007199Progressive spastic paraparesis3CTSD CL E G H1509610127Ceroid lipofuscinosis neuronal 10610127C1864669OMIM16692529116840
HP:0001257HP:0007020Progressive spastic paraplegia3CTSD CL E G H1509610127Ceroid lipofuscinosis neuronal 10610127C1864669OMIM16692529116840
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3CTSD CL E G H1509610127Ceroid lipofuscinosis neuronal 10610127C1864669OMIM16692529116840
HP:0001257HP:0012407Scissor gait3CTSD CL E G H1509610127Ceroid lipofuscinosis neuronal 10610127C1864669OMIM16692529116840
HP:0001257HP:0007199Progressive spastic paraparesis3CYFIP2 CL E G H26999618008EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65618008CN248516OMIM166813760606323
HP:0001257HP:0007020Progressive spastic paraplegia3CYFIP2 CL E G H26999618008EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65618008CN248516OMIM166813760606323
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3CYFIP2 CL E G H26999618008EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65618008CN248516OMIM166813760606323
HP:0001257HP:0012407Scissor gait3CYFIP2 CL E G H26999618008EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65618008CN248516OMIM166813760606323
HP:0001257HP:0007199Progressive spastic paraparesis3CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0001257HP:0007020Progressive spastic paraplegia3CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0001257HP:0012407Scissor gait3CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0001257HP:0007199Progressive spastic paraparesis3CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM19402605606530
HP:0001257HP:0007020Progressive spastic paraplegia3CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM19402605606530
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM19402605606530
HP:0001257HP:0012407Scissor gait3CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM19402605606530
HP:0001257HP:0007199Progressive spastic paraparesis3DAO CL E G H1610803ORPHA1652671124050
HP:0001257HP:0007020Progressive spastic paraplegia3DAO CL E G H1610803ORPHA1652671124050
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3DAO CL E G H1610803ORPHA1652671124050
HP:0001257HP:0012407Scissor gait3DAO CL E G H1610803ORPHA1652671124050
HP:0001257HP:0007199Progressive spastic paraparesis3DARS CL E G H1615615281Hypomyelination with brainstem and spinal cord involvement and leg spasticity615281C3809008OMIM12678603084
HP:0001257HP:0007020Progressive spastic paraplegia3DARS CL E G H1615615281Hypomyelination with brainstem and spinal cord involvement and leg spasticity615281C3809008OMIM12678603084
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3DARS CL E G H1615615281Hypomyelination with brainstem and spinal cord involvement and leg spasticity615281C3809008OMIM12678603084
HP:0001257HP:0012407Scissor gait3DARS CL E G H1615615281Hypomyelination with brainstem and spinal cord involvement and leg spasticity615281C3809008OMIM12678603084
HP:0001257HP:0007199Progressive spastic paraparesis3DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM139725538610956
HP:0001257HP:0007020Progressive spastic paraplegia3DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM139725538610956
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM139725538610956
HP:0001257HP:0012407Scissor gait3DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM139725538610956
HP:0001257HP:0007199Progressive spastic paraparesis3DCTN1 CL E G H1639803ORPHA110842711601143
HP:0001257HP:0007020Progressive spastic paraplegia3DCTN1 CL E G H1639803ORPHA110842711601143
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3DCTN1 CL E G H1639803ORPHA110842711601143
HP:0001257HP:0012407Scissor gait3DCTN1 CL E G H1639803ORPHA110842711601143
HP:0001257HP:0007199Progressive spastic paraparesis3DCX CL E G H1641300067Lissencephaly, X-linked300067C1848199OMIM14232714300121
HP:0001257HP:0007020Progressive spastic paraplegia3DCX CL E G H1641300067Lissencephaly, X-linked300067C1848199OMIM14232714300121
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3DCX CL E G H1641300067Lissencephaly, X-linked300067C1848199OMIM14232714300121
HP:0001257HP:0012407Scissor gait3DCX CL E G H1641300067Lissencephaly, X-linked300067C1848199OMIM14232714300121
HP:0001257HP:0007199Progressive spastic paraparesis3DDX3X CL E G H1654457260ORPHA17452745300160
HP:0001257HP:0007020Progressive spastic paraplegia3DDX3X CL E G H1654457260ORPHA17452745300160
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3DDX3X CL E G H1654457260ORPHA17452745300160
HP:0001257HP:0012407Scissor gait3DDX3X CL E G H1654457260ORPHA17452745300160
HP:0001257HP:0007199Progressive spastic paraparesis3DENND5A CL E G H23258617281Epileptic encephalopathy, early infantile, 49617281C4310635OMIM146319344617278
HP:0001257HP:0007020Progressive spastic paraplegia3DENND5A CL E G H23258617281Epileptic encephalopathy, early infantile, 49617281C4310635OMIM146319344617278
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3DENND5A CL E G H23258617281Epileptic encephalopathy, early infantile, 49617281C4310635OMIM146319344617278
HP:0001257HP:0012407Scissor gait3DENND5A CL E G H23258617281Epileptic encephalopathy, early infantile, 49617281C4310635OMIM146319344617278
HP:0001257HP:0007199Progressive spastic paraparesis3DHCR24 CL E G H171835107ORPHA12912859606418
HP:0001257HP:0007020Progressive spastic paraplegia3DHCR24 CL E G H171835107ORPHA12912859606418
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3DHCR24 CL E G H171835107ORPHA12912859606418
HP:0001257HP:0012407Scissor gait3DHCR24 CL E G H171835107ORPHA12912859606418
HP:0001257HP:0007199Progressive spastic paraparesis3DHCR24 CL E G H1718602398Desmosterolosis602398C1865596OMIM12912859606418
HP:0001257HP:0007020Progressive spastic paraplegia3DHCR24 CL E G H1718602398Desmosterolosis602398C1865596OMIM12912859606418
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3DHCR24 CL E G H1718602398Desmosterolosis602398C1865596OMIM12912859606418
HP:0001257HP:0012407Scissor gait3DHCR24 CL E G H1718602398Desmosterolosis602398C1865596OMIM12912859606418
HP:0001257HP:0007199Progressive spastic paraparesis3DHDDS CL E G H79947613861Retinitis pigmentosa 59613861C3151227OMIM143420603608172
HP:0001257HP:0007020Progressive spastic paraplegia3DHDDS CL E G H79947613861Retinitis pigmentosa 59613861C3151227OMIM143420603608172
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3DHDDS CL E G H79947613861Retinitis pigmentosa 59613861C3151227OMIM143420603608172
HP:0001257HP:0012407Scissor gait3DHDDS CL E G H79947613861Retinitis pigmentosa 59613861C3151227OMIM143420603608172
HP:0001257HP:0007199Progressive spastic paraparesis3DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA15202898238331
HP:0001257HP:0007020Progressive spastic paraplegia3DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA15202898238331
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA15202898238331
HP:0001257HP:0012407Scissor gait3DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA15202898238331
HP:0001257HP:0007199Progressive spastic paraparesis3DNAJC6 CL E G H9829615528Parkinson disease 19a, juvenile-onset615528C3809811OMIM131015469608375
HP:0001257HP:0007020Progressive spastic paraplegia3DNAJC6 CL E G H9829615528Parkinson disease 19a, juvenile-onset615528C3809811OMIM131015469608375
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3DNAJC6 CL E G H9829615528Parkinson disease 19a, juvenile-onset615528C3809811OMIM131015469608375
HP:0001257HP:0012407Scissor gait3DNAJC6 CL E G H9829615528Parkinson disease 19a, juvenile-onset615528C3809811OMIM131015469608375
HP:0001257HP:0007199Progressive spastic paraparesis3DNMT1 CL E G H1786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant604121C1858804OMIM111962976126375
HP:0001257HP:0007020Progressive spastic paraplegia3DNMT1 CL E G H1786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant604121C1858804OMIM111962976126375
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3DNMT1 CL E G H1786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant604121C1858804OMIM111962976126375
HP:0001257HP:0012407Scissor gait3DNMT1 CL E G H1786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant604121C1858804OMIM111962976126375
HP:0001257HP:0007199Progressive spastic paraparesis3ECHS1 CL E G H1892616277Mitochondrial short-chain enoyl-coa hydratase 1 deficiency616277C4225391OMIM14313151602292
HP:0001257HP:0007020Progressive spastic paraplegia3ECHS1 CL E G H1892616277Mitochondrial short-chain enoyl-coa hydratase 1 deficiency616277C4225391OMIM14313151602292
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3ECHS1 CL E G H1892616277Mitochondrial short-chain enoyl-coa hydratase 1 deficiency616277C4225391OMIM14313151602292
HP:0001257HP:0012407Scissor gait3ECHS1 CL E G H1892616277Mitochondrial short-chain enoyl-coa hydratase 1 deficiency616277C4225391OMIM14313151602292
HP:0001257HP:0007199Progressive spastic paraparesis3EED CL E G H87263447ORPHA11293188605984
HP:0001257HP:0007020Progressive spastic paraplegia3EED CL E G H87263447ORPHA11293188605984
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3EED CL E G H87263447ORPHA11293188605984
HP:0001257HP:0012407Scissor gait3EED CL E G H87263447ORPHA11293188605984
HP:0001257HP:0007199Progressive spastic paraparesis3EIF2B1 CL E G H1967603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11923257606686
HP:0001257HP:0007020Progressive spastic paraplegia3EIF2B1 CL E G H1967603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11923257606686
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3EIF2B1 CL E G H1967603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11923257606686
HP:0001257HP:0012407Scissor gait3EIF2B1 CL E G H1967603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11923257606686
HP:0001257HP:0007199Progressive spastic paraparesis3EIF2B2 CL E G H8892603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11903258606454
HP:0001257HP:0007020Progressive spastic paraplegia3EIF2B2 CL E G H8892603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11903258606454
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3EIF2B2 CL E G H8892603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11903258606454
HP:0001257HP:0012407Scissor gait3EIF2B2 CL E G H8892603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11903258606454
HP:0001257HP:0007199Progressive spastic paraparesis3EIF2B3 CL E G H8891603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11813259606273
HP:0001257HP:0007020Progressive spastic paraplegia3EIF2B3 CL E G H8891603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11813259606273
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3EIF2B3 CL E G H8891603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11813259606273
HP:0001257HP:0012407Scissor gait3EIF2B3 CL E G H8891603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11813259606273
HP:0001257HP:0007199Progressive spastic paraparesis3EIF2B4 CL E G H8890603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM12333260606687
HP:0001257HP:0007020Progressive spastic paraplegia3EIF2B4 CL E G H8890603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM12333260606687
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3EIF2B4 CL E G H8890603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM12333260606687
HP:0001257HP:0012407Scissor gait3EIF2B4 CL E G H8890603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM12333260606687
HP:0001257HP:0007199Progressive spastic paraparesis3EIF2B5 CL E G H8893603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM15793261603945
HP:0001257HP:0007020Progressive spastic paraplegia3EIF2B5 CL E G H8893603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM15793261603945
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3EIF2B5 CL E G H8893603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM15793261603945
HP:0001257HP:0012407Scissor gait3EIF2B5 CL E G H8893603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM15793261603945
HP:0001257HP:0007199Progressive spastic paraparesis3ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0001257HP:0007020Progressive spastic paraplegia3ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0001257HP:0012407Scissor gait3ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0001257HP:0007199Progressive spastic paraparesis3EML1 CL E G H2009600348Band heterotopia600348C1838239OMIM11703330602033
HP:0001257HP:0007020Progressive spastic paraplegia3EML1 CL E G H2009600348Band heterotopia600348C1838239OMIM11703330602033
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3EML1 CL E G H2009600348Band heterotopia600348C1838239OMIM11703330602033
HP:0001257HP:0012407Scissor gait3EML1 CL E G H2009600348Band heterotopia600348C1838239OMIM11703330602033
HP:0001257HP:0007199Progressive spastic paraparesis3ENTPD1 CL E G H953401810ORPHA11993363601752
HP:0001257HP:0007020Progressive spastic paraplegia3ENTPD1 CL E G H953401810ORPHA11993363601752
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3ENTPD1 CL E G H953401810ORPHA11993363601752
HP:0001257HP:0012407Scissor gait3ENTPD1 CL E G H953401810ORPHA11993363601752
HP:0001257HP:0007199Progressive spastic paraparesis3EPHA4 CL E G H2043803ORPHA11933388602188
HP:0001257HP:0007020Progressive spastic paraplegia3EPHA4 CL E G H2043803ORPHA11933388602188
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3EPHA4 CL E G H2043803ORPHA11933388602188
HP:0001257HP:0012407Scissor gait3EPHA4 CL E G H2043803ORPHA11933388602188
HP:0001257HP:0007199Progressive spastic paraparesis3EPRS CL E G H2058617951LEUKODYSTROPHY, HYPOMYELINATING, 15617951CN244566OMIM13418138295
HP:0001257HP:0007020Progressive spastic paraplegia3EPRS CL E G H2058617951LEUKODYSTROPHY, HYPOMYELINATING, 15617951CN244566OMIM13418138295
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3EPRS CL E G H2058617951LEUKODYSTROPHY, HYPOMYELINATING, 15617951CN244566OMIM13418138295
HP:0001257HP:0012407Scissor gait3EPRS CL E G H2058617951LEUKODYSTROPHY, HYPOMYELINATING, 15617951CN244566OMIM13418138295
HP:0001257HP:0007199Progressive spastic paraparesis3ERBB4 CL E G H2066803ORPHA14623432600543
HP:0001257HP:0007020Progressive spastic paraplegia3ERBB4 CL E G H2066803ORPHA14623432600543
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3ERBB4 CL E G H2066803ORPHA14623432600543
HP:0001257HP:0012407Scissor gait3ERBB4 CL E G H2066803ORPHA14623432600543
HP:0001257HP:0007199Progressive spastic paraparesis3ERCC2 CL E G H2068220295ORPHA115723434126340
HP:0001257HP:0007020Progressive spastic paraplegia3ERCC2 CL E G H2068220295ORPHA115723434126340
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3ERCC2 CL E G H2068220295ORPHA115723434126340
HP:0001257HP:0012407Scissor gait3ERCC2 CL E G H2068220295ORPHA115723434126340
HP:0001257HP:0007199Progressive spastic paraparesis3ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM115723434126340
HP:0001257HP:0007020Progressive spastic paraplegia3ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM115723434126340
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM115723434126340
HP:0001257HP:0012407Scissor gait3ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM115723434126340
HP:0001257HP:0007199Progressive spastic paraparesis3ERCC3 CL E G H2071220295ORPHA15233435133510
HP:0001257HP:0007020Progressive spastic paraplegia3ERCC3 CL E G H2071220295ORPHA15233435133510
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3ERCC3 CL E G H2071220295ORPHA15233435133510
HP:0001257HP:0012407Scissor gait3ERCC3 CL E G H2071220295ORPHA15233435133510
HP:0001257HP:0007199Progressive spastic paraparesis3ERCC4 CL E G H2072220295ORPHA17263436133520
HP:0001257HP:0007020Progressive spastic paraplegia3ERCC4 CL E G H2072220295ORPHA17263436133520
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3ERCC4 CL E G H2072220295ORPHA17263436133520
HP:0001257HP:0012407Scissor gait3ERCC4 CL E G H2072220295ORPHA17263436133520
HP:0001257HP:0007199Progressive spastic paraparesis3ERCC5 CL E G H2073220295ORPHA14913437133530
HP:0001257HP:0007020Progressive spastic paraplegia3ERCC5 CL E G H2073220295ORPHA14913437133530
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3ERCC5 CL E G H2073220295ORPHA14913437133530
HP:0001257HP:0012407Scissor gait3ERCC5 CL E G H2073220295ORPHA14913437133530
HP:0001257HP:0007199Progressive spastic paraparesis3ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM116453438609413
HP:0001257HP:0007020Progressive spastic paraplegia3ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM116453438609413
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM116453438609413
HP:0001257HP:0012407Scissor gait3ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM116453438609413
HP:0001257HP:0007199Progressive spastic paraparesis3ERLIN2 CL E G H11160209951ORPHA11911356611605
HP:0001257HP:0007020Progressive spastic paraplegia3ERLIN2 CL E G H11160209951ORPHA11911356611605
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3ERLIN2 CL E G H11160209951ORPHA11911356611605
HP:0001257HP:0012407Scissor gait3ERLIN2 CL E G H11160209951ORPHA11911356611605
HP:0001257HP:0007199Progressive spastic paraparesis3EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM122717944606489
HP:0001257HP:0007020Progressive spastic paraplegia3EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM122717944606489
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM122717944606489
HP:0001257HP:0012407Scissor gait3EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM122717944606489
HP:0001257HP:0007199Progressive spastic paraparesis3EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM12609137606180
HP:0001257HP:0007020Progressive spastic paraplegia3EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM12609137606180
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM12609137606180
HP:0001257HP:0012407Scissor gait3EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM12609137606180
HP:0001257HP:0007199Progressive spastic paraparesis3EZH2 CL E G H21463447ORPHA15383527601573
HP:0001257HP:0007020Progressive spastic paraplegia3EZH2 CL E G H21463447ORPHA15383527601573
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3EZH2 CL E G H21463447ORPHA15383527601573
HP:0001257HP:0012407Scissor gait3EZH2 CL E G H21463447ORPHA15383527601573
HP:0001257HP:0007199Progressive spastic paraparesis3EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0001257HP:0007020Progressive spastic paraplegia3EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0001257HP:0012407Scissor gait3EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0001257HP:0007199Progressive spastic paraparesis3FAR1 CL E G H84188616154Peroxisomal fatty acyl-coa reductase 1 disorder616154C4015344OMIM128226222616107
HP:0001257HP:0007020Progressive spastic paraplegia3FAR1 CL E G H84188616154Peroxisomal fatty acyl-coa reductase 1 disorder616154C4015344OMIM128226222616107
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3FAR1 CL E G H84188616154Peroxisomal fatty acyl-coa reductase 1 disorder616154C4015344OMIM128226222616107
HP:0001257HP:0012407Scissor gait3FAR1 CL E G H84188616154Peroxisomal fatty acyl-coa reductase 1 disorder616154C4015344OMIM128226222616107
HP:0001257HP:0007199Progressive spastic paraparesis3FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0001257HP:0007020Progressive spastic paraplegia3FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0001257HP:0012407Scissor gait3FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0001257HP:0007199Progressive spastic paraparesis3FGFR1 CL E G H22602396ORPHA19363688136350
HP:0001257HP:0007020Progressive spastic paraplegia3FGFR1 CL E G H22602396ORPHA19363688136350
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3FGFR1 CL E G H22602396ORPHA19363688136350
HP:0001257HP:0012407Scissor gait3FGFR1 CL E G H22602396ORPHA19363688136350
HP:0001257HP:0007199Progressive spastic paraparesis3FIG4 CL E G H9896803ORPHA192616873609390
HP:0001257HP:0007020Progressive spastic paraplegia3FIG4 CL E G H9896803ORPHA192616873609390
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3FIG4 CL E G H9896803ORPHA192616873609390
HP:0001257HP:0012407Scissor gait3FIG4 CL E G H9896803ORPHA192616873609390
HP:0001257HP:0007199Progressive spastic paraparesis3FOXG1 CL E G H22903095ORPHA17253811164874
HP:0001257HP:0007020Progressive spastic paraplegia3FOXG1 CL E G H22903095ORPHA17253811164874
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3FOXG1 CL E G H22903095ORPHA17253811164874
HP:0001257HP:0012407Scissor gait3FOXG1 CL E G H22903095ORPHA17253811164874
HP:0001257HP:0007199Progressive spastic paraparesis3FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM17253811164874
HP:0001257HP:0007020Progressive spastic paraplegia3FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM17253811164874
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM17253811164874
HP:0001257HP:0012407Scissor gait3FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM17253811164874
HP:0001257HP:0007199Progressive spastic paraparesis3FRMPD4 CL E G H9758300983Mental retardation, X-linked 104300983C4310817OMIM145029007300838
HP:0001257HP:0007020Progressive spastic paraplegia3FRMPD4 CL E G H9758300983Mental retardation, X-linked 104300983C4310817OMIM145029007300838
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3FRMPD4 CL E G H9758300983Mental retardation, X-linked 104300983C4310817OMIM145029007300838
HP:0001257HP:0012407Scissor gait3FRMPD4 CL E G H9758300983Mental retardation, X-linked 104300983C4310817OMIM145029007300838
HP:0001257HP:0007199Progressive spastic paraparesis3FRRS1L CL E G H23732616981Epileptic encephalopathy, early infantile, 37616981C4310770OMIM14021362604574
HP:0001257HP:0007020Progressive spastic paraplegia3FRRS1L CL E G H23732616981Epileptic encephalopathy, early infantile, 37616981C4310770OMIM14021362604574
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3FRRS1L CL E G H23732616981Epileptic encephalopathy, early infantile, 37616981C4310770OMIM14021362604574
HP:0001257HP:0012407Scissor gait3FRRS1L CL E G H23732616981Epileptic encephalopathy, early infantile, 37616981C4310770OMIM14021362604574
HP:0001257HP:0007199Progressive spastic paraparesis3FTL CL E G H2512606159Neuroferritinopathy606159C1853578OMIM11853999134790
HP:0001257HP:0007020Progressive spastic paraplegia3FTL CL E G H2512606159Neuroferritinopathy606159C1853578OMIM11853999134790
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3FTL CL E G H2512606159Neuroferritinopathy606159C1853578OMIM11853999134790
HP:0001257HP:0012407Scissor gait3FTL CL E G H2512606159Neuroferritinopathy606159C1853578OMIM11853999134790
HP:0001257HP:0007199Progressive spastic paraparesis3FUS CL E G H2521803ORPHA14744010137070
HP:0001257HP:0007020Progressive spastic paraplegia3FUS CL E G H2521803ORPHA14744010137070
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3FUS CL E G H2521803ORPHA14744010137070
HP:0001257HP:0012407Scissor gait3FUS CL E G H2521803ORPHA14744010137070
HP:0001257HP:0007199Progressive spastic paraparesis3FUS CL E G H2521300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA14744010137070
HP:0001257HP:0007020Progressive spastic paraplegia3FUS CL E G H2521300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA14744010137070
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3FUS CL E G H2521300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA14744010137070
HP:0001257HP:0012407Scissor gait3FUS CL E G H2521300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA14744010137070
HP:0001257HP:0007199Progressive spastic paraparesis3GABBR2 CL E G H95683095ORPHA18484507607340
HP:0001257HP:0007020Progressive spastic paraplegia3GABBR2 CL E G H95683095ORPHA18484507607340
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3GABBR2 CL E G H95683095ORPHA18484507607340
HP:0001257HP:0012407Scissor gait3GABBR2 CL E G H95683095ORPHA18484507607340
HP:0001257HP:0007199Progressive spastic paraparesis3GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM14944082600232
HP:0001257HP:0007020Progressive spastic paraplegia3GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM14944082600232
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM14944082600232
HP:0001257HP:0012407Scissor gait3GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM14944082600232
HP:0001257HP:0007199Progressive spastic paraparesis3GAN CL E G H8139643ORPHA17774137605379
HP:0001257HP:0007020Progressive spastic paraplegia3GAN CL E G H8139643ORPHA17774137605379
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3GAN CL E G H8139643ORPHA17774137605379
HP:0001257HP:0012407Scissor gait3GAN CL E G H8139643ORPHA17774137605379
HP:0001257HP:0007199Progressive spastic paraparesis3GBA CL E G H262977260ORPHA14177606463
HP:0001257HP:0007020Progressive spastic paraplegia3GBA CL E G H262977260ORPHA14177606463
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3GBA CL E G H262977260ORPHA14177606463
HP:0001257HP:0012407Scissor gait3GBA CL E G H262977260ORPHA14177606463
HP:0001257HP:0007199Progressive spastic paraparesis3GBA CL E G H2629230900Acute neuronopathic Gaucher's disease230900C0268250OMIM14177606463
HP:0001257HP:0007020Progressive spastic paraplegia3GBA CL E G H2629230900Acute neuronopathic Gaucher's disease230900C0268250OMIM14177606463
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3GBA CL E G H2629230900Acute neuronopathic Gaucher's disease230900C0268250OMIM14177606463
HP:0001257HP:0012407Scissor gait3GBA CL E G H2629230900Acute neuronopathic Gaucher's disease230900C0268250OMIM14177606463
HP:0001257HP:0007199Progressive spastic paraparesis3GBE1 CL E G H2632206583ORPHA17844180607839
HP:0001257HP:0007020Progressive spastic paraplegia3GBE1 CL E G H2632206583ORPHA17844180607839
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3GBE1 CL E G H2632206583ORPHA17844180607839
HP:0001257HP:0012407Scissor gait3GBE1 CL E G H2632206583ORPHA17844180607839
HP:0001257HP:0007199Progressive spastic paraparesis3GCDH CL E G H263925ORPHA17204189608801
HP:0001257HP:0007020Progressive spastic paraplegia3GCDH CL E G H263925ORPHA17204189608801
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3GCDH CL E G H263925ORPHA17204189608801
HP:0001257HP:0012407Scissor gait3GCDH CL E G H263925ORPHA17204189608801
HP:0001257HP:0007199Progressive spastic paraparesis3GFAP CL E G H2670203450Alexander's disease203450C0270726OMIM14554235137780
HP:0001257HP:0007020Progressive spastic paraplegia3GFAP CL E G H2670203450Alexander's disease203450C0270726OMIM14554235137780
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3GFAP CL E G H2670203450Alexander's disease203450C0270726OMIM14554235137780
HP:0001257HP:0012407Scissor gait3GFAP CL E G H2670203450Alexander's disease203450C0270726OMIM14554235137780
HP:0001257HP:0007199Progressive spastic paraparesis3GFM1 CL E G H85476609060Combined oxidative phosphorylation deficiency 1609060C1836797OMIM165013780606639
HP:0001257HP:0007020Progressive spastic paraplegia3GFM1 CL E G H85476609060Combined oxidative phosphorylation deficiency 1609060C1836797OMIM165013780606639
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3GFM1 CL E G H85476609060Combined oxidative phosphorylation deficiency 1609060C1836797OMIM165013780606639
HP:0001257HP:0012407Scissor gait3GFM1 CL E G H85476609060Combined oxidative phosphorylation deficiency 1609060C1836797OMIM165013780606639
HP:0001257HP:0007199Progressive spastic paraparesis3GJA1 CL E G H2697164200Oculodentodigital dysplasia164200C0812437OMIM12724274121014
HP:0001257HP:0007020Progressive spastic paraplegia3GJA1 CL E G H2697164200Oculodentodigital dysplasia164200C0812437OMIM12724274121014
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3GJA1 CL E G H2697164200Oculodentodigital dysplasia164200C0812437OMIM12724274121014
HP:0001257HP:0012407Scissor gait3GJA1 CL E G H2697164200Oculodentodigital dysplasia164200C0812437OMIM12724274121014
HP:0001257HP:0007199Progressive spastic paraparesis3GLE1 CL E G H2733803ORPHA14754315603371
HP:0001257HP:0007020Progressive spastic paraplegia3GLE1 CL E G H2733803ORPHA14754315603371
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3GLE1 CL E G H2733803ORPHA14754315603371
HP:0001257HP:0012407Scissor gait3GLE1 CL E G H2733803ORPHA14754315603371
HP:0001257HP:0007199Progressive spastic paraparesis3GLRA1 CL E G H27413197Lateral body wall defectORPHA14474326138491
HP:0001257HP:0007020Progressive spastic paraplegia3GLRA1 CL E G H27413197Lateral body wall defectORPHA14474326138491
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3GLRA1 CL E G H27413197Lateral body wall defectORPHA14474326138491
HP:0001257HP:0012407Scissor gait3GLRA1 CL E G H27413197Lateral body wall defectORPHA14474326138491
HP:0001257HP:0007199Progressive spastic paraparesis3GLRB CL E G H27433197Lateral body wall defectORPHA13794329138492
HP:0001257HP:0007020Progressive spastic paraplegia3GLRB CL E G H27433197Lateral body wall defectORPHA13794329138492
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3GLRB CL E G H27433197Lateral body wall defectORPHA13794329138492
HP:0001257HP:0012407Scissor gait3GLRB CL E G H27433197Lateral body wall defectORPHA13794329138492
HP:0001257HP:0007199Progressive spastic paraparesis3GNAO1 CL E G H2775617493Neurodevelopmental disorder with involuntary movements617493C4479569OMIM14294389139311
HP:0001257HP:0007020Progressive spastic paraplegia3GNAO1 CL E G H2775617493Neurodevelopmental disorder with involuntary movements617493C4479569OMIM14294389139311
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3GNAO1 CL E G H2775617493Neurodevelopmental disorder with involuntary movements617493C4479569OMIM14294389139311
HP:0001257HP:0012407Scissor gait3GNAO1 CL E G H2775617493Neurodevelopmental disorder with involuntary movements617493C4479569OMIM14294389139311
HP:0001257HP:0007199Progressive spastic paraparesis3GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM15274446603048
HP:0001257HP:0007020Progressive spastic paraplegia3GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM15274446603048
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM15274446603048
HP:0001257HP:0012407Scissor gait3GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM15274446603048
HP:0001257HP:0007199Progressive spastic paraparesis3GPHN CL E G H102433197Lateral body wall defectORPHA1147315465603930
HP:0001257HP:0007020Progressive spastic paraplegia3GPHN CL E G H102433197Lateral body wall defectORPHA1147315465603930
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3GPHN CL E G H102433197Lateral body wall defectORPHA1147315465603930
HP:0001257HP:0012407Scissor gait3GPHN CL E G H102433197Lateral body wall defectORPHA1147315465603930
HP:0001257HP:0007199Progressive spastic paraparesis3GPT2 CL E G H84706616281Mental retardation, autosomal recessive 49616281C4225388OMIM110918062138210
HP:0001257HP:0007020Progressive spastic paraplegia3GPT2 CL E G H84706616281Mental retardation, autosomal recessive 49616281C4225388OMIM110918062138210
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3GPT2 CL E G H84706616281Mental retardation, autosomal recessive 49616281C4225388OMIM110918062138210
HP:0001257HP:0012407Scissor gait3GPT2 CL E G H84706616281Mental retardation, autosomal recessive 49616281C4225388OMIM110918062138210
HP:0001257HP:0007199Progressive spastic paraparesis3GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM19294584138249
HP:0001257HP:0007020Progressive spastic paraplegia3GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM19294584138249
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM19294584138249
HP:0001257HP:0012407Scissor gait3GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM19294584138249
HP:0001257HP:0007199Progressive spastic paraparesis3GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0001257HP:0007020Progressive spastic paraplegia3GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0001257HP:0012407Scissor gait3GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0001257HP:0007199Progressive spastic paraparesis3GRIN2B CL E G H2904616139Epileptic encephalopathy, early infantile, 27616139C4015316OMIM113534586138252
HP:0001257HP:0007020Progressive spastic paraplegia3GRIN2B CL E G H2904616139Epileptic encephalopathy, early infantile, 27616139C4015316OMIM113534586138252
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3GRIN2B CL E G H2904616139Epileptic encephalopathy, early infantile, 27616139C4015316OMIM113534586138252
HP:0001257HP:0012407Scissor gait3GRIN2B CL E G H2904616139Epileptic encephalopathy, early infantile, 27616139C4015316OMIM113534586138252
HP:0001257HP:0007199Progressive spastic paraparesis3GRIN2B CL E G H2904613970Mental retardation, autosomal dominant 6613970C3151411OMIM113534586138252
HP:0001257HP:0007020Progressive spastic paraplegia3GRIN2B CL E G H2904613970Mental retardation, autosomal dominant 6613970C3151411OMIM113534586138252
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3GRIN2B CL E G H2904613970Mental retardation, autosomal dominant 6613970C3151411OMIM113534586138252
HP:0001257HP:0012407Scissor gait3GRIN2B CL E G H2904613970Mental retardation, autosomal dominant 6613970C3151411OMIM113534586138252
HP:0001257HP:0007199Progressive spastic paraparesis3GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0001257HP:0007020Progressive spastic paraplegia3GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0001257HP:0012407Scissor gait3GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0001257HP:0007199Progressive spastic paraparesis3GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0001257HP:0007020Progressive spastic paraplegia3GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0001257HP:0012407Scissor gait3GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0001257HP:0007199Progressive spastic paraparesis3GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM11474670607434
HP:0001257HP:0007020Progressive spastic paraplegia3GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM11474670607434
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM11474670607434
HP:0001257HP:0012407Scissor gait3GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM11474670607434
HP:0001257HP:0007199Progressive spastic paraparesis3GUF1 CL E G H60558617065Epileptic encephalopathy, early infantile, 40617065C4310737OMIM130925799617064
HP:0001257HP:0007020Progressive spastic paraplegia3GUF1 CL E G H60558617065Epileptic encephalopathy, early infantile, 40617065C4310737OMIM130925799617064
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3GUF1 CL E G H60558617065Epileptic encephalopathy, early infantile, 40617065C4310737OMIM130925799617064
HP:0001257HP:0012407Scissor gait3GUF1 CL E G H60558617065Epileptic encephalopathy, early infantile, 40617065C4310737OMIM130925799617064
HP:0001257HP:0007199Progressive spastic paraparesis3HEPACAM CL E G H220296604004Megalencephalic leukoencephalopathy with subcortical cysts 1604004C1858854OMIM130426361611642
HP:0001257HP:0007020Progressive spastic paraplegia3HEPACAM CL E G H220296604004Megalencephalic leukoencephalopathy with subcortical cysts 1604004C1858854OMIM130426361611642
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3HEPACAM CL E G H220296604004Megalencephalic leukoencephalopathy with subcortical cysts 1604004C1858854OMIM130426361611642
HP:0001257HP:0012407Scissor gait3HEPACAM CL E G H220296604004Megalencephalic leukoencephalopathy with subcortical cysts 1604004C1858854OMIM130426361611642
HP:0001257HP:0007199Progressive spastic paraparesis3HEPACAM CL E G H220296613925Megalencephalic leukoencephalopathy with subcortical cysts 2a613925C3151355OMIM130426361611642
HP:0001257HP:0007020Progressive spastic paraplegia3HEPACAM CL E G H220296613925Megalencephalic leukoencephalopathy with subcortical cysts 2a613925C3151355OMIM130426361611642
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3HEPACAM CL E G H220296613925Megalencephalic leukoencephalopathy with subcortical cysts 2a613925C3151355OMIM130426361611642
HP:0001257HP:0012407Scissor gait3HEPACAM CL E G H220296613925Megalencephalic leukoencephalopathy with subcortical cysts 2a613925C3151355OMIM130426361611642
HP:0001257HP:0007199Progressive spastic paraparesis3HIKESHI CL E G H51501616881Leukodystrophy, hypomyelinating, 13616881C4225170OMIM17626938614908
HP:0001257HP:0007020Progressive spastic paraplegia3HIKESHI CL E G H51501616881Leukodystrophy, hypomyelinating, 13616881C4225170OMIM17626938614908
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3HIKESHI CL E G H51501616881Leukodystrophy, hypomyelinating, 13616881C4225170OMIM17626938614908
HP:0001257HP:0012407Scissor gait3HIKESHI CL E G H51501616881Leukodystrophy, hypomyelinating, 13616881C4225170OMIM17626938614908
HP:0001257HP:0007199Progressive spastic paraparesis3HMGCL CL E G H3155246450Deficiency of hydroxymethylglutaryl-CoA lyase246450C0268601OMIM14205005613898
HP:0001257HP:0007020Progressive spastic paraplegia3HMGCL CL E G H3155246450Deficiency of hydroxymethylglutaryl-CoA lyase246450C0268601OMIM14205005613898
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3HMGCL CL E G H3155246450Deficiency of hydroxymethylglutaryl-CoA lyase246450C0268601OMIM14205005613898
HP:0001257HP:0012407Scissor gait3HMGCL CL E G H3155246450Deficiency of hydroxymethylglutaryl-CoA lyase246450C0268601OMIM14205005613898
HP:0001257HP:0007199Progressive spastic paraparesis3HNRNPA1 CL E G H3178803ORPHA1805031164017
HP:0001257HP:0007020Progressive spastic paraplegia3HNRNPA1 CL E G H3178803ORPHA1805031164017
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3HNRNPA1 CL E G H3178803ORPHA1805031164017
HP:0001257HP:0012407Scissor gait3HNRNPA1 CL E G H3178803ORPHA1805031164017
HP:0001257HP:0007199Progressive spastic paraparesis3HPRT1 CL E G H3251510ORPHA13545157308000
HP:0001257HP:0007020Progressive spastic paraplegia3HPRT1 CL E G H3251510ORPHA13545157308000
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3HPRT1 CL E G H3251510ORPHA13545157308000
HP:0001257HP:0012407Scissor gait3HPRT1 CL E G H3251510ORPHA13545157308000
HP:0001257HP:0007199Progressive spastic paraparesis3HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0001257HP:0007020Progressive spastic paraplegia3HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0001257HP:0012407Scissor gait3HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0001257HP:0007199Progressive spastic paraparesis3HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM12859476602194
HP:0001257HP:0007020Progressive spastic paraplegia3HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM12859476602194
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM12859476602194
HP:0001257HP:0012407Scissor gait3HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM12859476602194
HP:0001257HP:0007199Progressive spastic paraparesis3HTT CL E G H306439946,XX testicular disorder of sex developmentC2936420ORPHA17604851613004
HP:0001257HP:0007020Progressive spastic paraplegia3HTT CL E G H306439946,XX testicular disorder of sex developmentC2936420ORPHA17604851613004
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3HTT CL E G H306439946,XX testicular disorder of sex developmentC2936420ORPHA17604851613004
HP:0001257HP:0012407Scissor gait3HTT CL E G H306439946,XX testicular disorder of sex developmentC2936420ORPHA17604851613004
HP:0001257HP:0007199Progressive spastic paraparesis3HTT CL E G H3064617435Lopes-Maciel-Rodan syndrome617435C4479491OMIM17604851613004
HP:0001257HP:0007020Progressive spastic paraplegia3HTT CL E G H3064617435Lopes-Maciel-Rodan syndrome617435C4479491OMIM17604851613004
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3HTT CL E G H3064617435Lopes-Maciel-Rodan syndrome617435C4479491OMIM17604851613004
HP:0001257HP:0012407Scissor gait3HTT CL E G H3064617435Lopes-Maciel-Rodan syndrome617435C4479491OMIM17604851613004
HP:0001257HP:0007199Progressive spastic paraparesis3IKBKG CL E G H8517308300Incontinentia pigmenti syndrome308300C0021171OMIM13875961300248
HP:0001257HP:0007020Progressive spastic paraplegia3IKBKG CL E G H8517308300Incontinentia pigmenti syndrome308300C0021171OMIM13875961300248
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3IKBKG CL E G H8517308300Incontinentia pigmenti syndrome308300C0021171OMIM13875961300248
HP:0001257HP:0012407Scissor gait3IKBKG CL E G H8517308300Incontinentia pigmenti syndrome308300C0021171OMIM13875961300248
HP:0001257HP:0007199Progressive spastic paraparesis3INPP5K CL E G H51763559ORPHA118733882607875
HP:0001257HP:0007020Progressive spastic paraplegia3INPP5K CL E G H51763559ORPHA118733882607875
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3INPP5K CL E G H51763559ORPHA118733882607875
HP:0001257HP:0012407Scissor gait3INPP5K CL E G H51763559ORPHA118733882607875
HP:0001257HP:0007199Progressive spastic paraparesis3IRF2BPL CL E G H64207618088NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES618088CN252701OMIM131214282611720
HP:0001257HP:0007020Progressive spastic paraplegia3IRF2BPL CL E G H64207618088NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES618088CN252701OMIM131214282611720
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3IRF2BPL CL E G H64207618088NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES618088CN252701OMIM131214282611720
HP:0001257HP:0012407Scissor gait3IRF2BPL CL E G H64207618088NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES618088CN252701OMIM131214282611720
HP:0001257HP:0007199Progressive spastic paraparesis3ISCA1 CL E G H81689617613MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5617613C4539919OMIM16028660611006
HP:0001257HP:0007020Progressive spastic paraplegia3ISCA1 CL E G H81689617613MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5617613C4539919OMIM16028660611006
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3ISCA1 CL E G H81689617613MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5617613C4539919OMIM16028660611006
HP:0001257HP:0012407Scissor gait3ISCA1 CL E G H81689617613MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5617613C4539919OMIM16028660611006
HP:0001257HP:0007199Progressive spastic paraparesis3ISCA2 CL E G H122961616370Multiple mitochondrial dysfunctions syndrome 4616370C4225348OMIM18319857615317
HP:0001257HP:0007020Progressive spastic paraplegia3ISCA2 CL E G H122961616370Multiple mitochondrial dysfunctions syndrome 4616370C4225348OMIM18319857615317
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3ISCA2 CL E G H122961616370Multiple mitochondrial dysfunctions syndrome 4616370C4225348OMIM18319857615317
HP:0001257HP:0012407Scissor gait3ISCA2 CL E G H122961616370Multiple mitochondrial dysfunctions syndrome 4616370C4225348OMIM18319857615317
HP:0001257HP:0007199Progressive spastic paraparesis3ITM2B CL E G H9445176500Dementia familial British176500C1867773OMIM11776174603904
HP:0001257HP:0007020Progressive spastic paraplegia3ITM2B CL E G H9445176500Dementia familial British176500C1867773OMIM11776174603904
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3ITM2B CL E G H9445176500Dementia familial British176500C1867773OMIM11776174603904
HP:0001257HP:0012407Scissor gait3ITM2B CL E G H9445176500Dementia familial British176500C1867773OMIM11776174603904
HP:0001257HP:0007199Progressive spastic paraparesis3ITM2B CL E G H9445117300Dementia, familial Danish117300C1861735OMIM11776174603904
HP:0001257HP:0007020Progressive spastic paraplegia3ITM2B CL E G H9445117300Dementia, familial Danish117300C1861735OMIM11776174603904
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3ITM2B CL E G H9445117300Dementia, familial Danish117300C1861735OMIM11776174603904
HP:0001257HP:0012407Scissor gait3ITM2B CL E G H9445117300Dementia, familial Danish117300C1861735OMIM11776174603904
HP:0001257HP:0007199Progressive spastic paraparesis3JAM3 CL E G H83700613730Hemorrhagic destruction of the brain, subependymal calcification, and cataracts613730C3151000OMIM126515532606871
HP:0001257HP:0007020Progressive spastic paraplegia3JAM3 CL E G H83700613730Hemorrhagic destruction of the brain, subependymal calcification, and cataracts613730C3151000OMIM126515532606871
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3JAM3 CL E G H83700613730Hemorrhagic destruction of the brain, subependymal calcification, and cataracts613730C3151000OMIM126515532606871
HP:0001257HP:0012407Scissor gait3JAM3 CL E G H83700613730Hemorrhagic destruction of the brain, subependymal calcification, and cataracts613730C3151000OMIM126515532606871
HP:0001257HP:0007199Progressive spastic paraparesis3KCNT1 CL E G H57582614959Early infantile epileptic encephalopathy 14614959C3554195OMIM1200018865608167
HP:0001257HP:0007020Progressive spastic paraplegia3KCNT1 CL E G H57582614959Early infantile epileptic encephalopathy 14614959C3554195OMIM1200018865608167
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3KCNT1 CL E G H57582614959Early infantile epileptic encephalopathy 14614959C3554195OMIM1200018865608167
HP:0001257HP:0012407Scissor gait3KCNT1 CL E G H57582614959Early infantile epileptic encephalopathy 14614959C3554195OMIM1200018865608167
HP:0001257HP:0007199Progressive spastic paraparesis3KDM5C CL E G H824285279ORPHA175611114314690
HP:0001257HP:0007020Progressive spastic paraplegia3KDM5C CL E G H824285279ORPHA175611114314690
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3KDM5C CL E G H824285279ORPHA175611114314690
HP:0001257HP:0012407Scissor gait3KDM5C CL E G H824285279ORPHA175611114314690
HP:0001257HP:0007199Progressive spastic paraparesis3KIF1C CL E G H10749397946ORPHA15796317603060
HP:0001257HP:0007020Progressive spastic paraplegia3KIF1C CL E G H10749397946ORPHA15796317603060
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3KIF1C CL E G H10749397946ORPHA15796317603060
HP:0001257HP:0012407Scissor gait3KIF1C CL E G H10749397946ORPHA15796317603060
HP:0001257HP:0007199Progressive spastic paraparesis3KIF1C CL E G H10749611302Ataxia, spastic, 2, autosomal recessive611302C1969796OMIM15796317603060
HP:0001257HP:0007020Progressive spastic paraplegia3KIF1C CL E G H10749611302Ataxia, spastic, 2, autosomal recessive611302C1969796OMIM15796317603060
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3KIF1C CL E G H10749611302Ataxia, spastic, 2, autosomal recessive611302C1969796OMIM15796317603060
HP:0001257HP:0012407Scissor gait3KIF1C CL E G H10749611302Ataxia, spastic, 2, autosomal recessive611302C1969796OMIM15796317603060
HP:0001257HP:0007199Progressive spastic paraparesis3KRAS CL E G H38452396ORPHA14806407190070
HP:0001257HP:0007020Progressive spastic paraplegia3KRAS CL E G H38452396ORPHA14806407190070
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3KRAS CL E G H38452396ORPHA14806407190070
HP:0001257HP:0012407Scissor gait3KRAS CL E G H38452396ORPHA14806407190070
HP:0001257HP:0007199Progressive spastic paraparesis3L1CAM CL E G H38972182ORPHA19686470308840
HP:0001257HP:0007020Progressive spastic paraplegia3L1CAM CL E G H38972182ORPHA19686470308840
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3L1CAM CL E G H38972182ORPHA19686470308840
HP:0001257HP:0012407Scissor gait3L1CAM CL E G H38972182ORPHA19686470308840
HP:0001257HP:0007199Progressive spastic paraparesis3L1CAM CL E G H38971497Congenital mixovirusORPHA19686470308840
HP:0001257HP:0007020Progressive spastic paraplegia3L1CAM CL E G H38971497Congenital mixovirusORPHA19686470308840
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3L1CAM CL E G H38971497Congenital mixovirusORPHA19686470308840
HP:0001257HP:0012407Scissor gait3L1CAM CL E G H38971497Congenital mixovirusORPHA19686470308840
HP:0001257HP:0007199Progressive spastic paraparesis3L1CAM CL E G H3897304100Corpus callosum, partial agenesis of, X-linked304100C1839909OMIM19686470308840
HP:0001257HP:0007020Progressive spastic paraplegia3L1CAM CL E G H3897304100Corpus callosum, partial agenesis of, X-linked304100C1839909OMIM19686470308840
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3L1CAM CL E G H3897304100Corpus callosum, partial agenesis of, X-linked304100C1839909OMIM19686470308840
HP:0001257HP:0012407Scissor gait3L1CAM CL E G H3897304100Corpus callosum, partial agenesis of, X-linked304100C1839909OMIM19686470308840
HP:0001257HP:0007199Progressive spastic paraparesis3L1CAM CL E G H3897307000X-linked hydrocephalus syndrome307000C0265216OMIM19686470308840
HP:0001257HP:0007020Progressive spastic paraplegia3L1CAM CL E G H3897307000X-linked hydrocephalus syndrome307000C0265216OMIM19686470308840
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3L1CAM CL E G H3897307000X-linked hydrocephalus syndrome307000C0265216OMIM19686470308840
HP:0001257HP:0012407Scissor gait3L1CAM CL E G H3897307000X-linked hydrocephalus syndrome307000C0265216OMIM19686470308840
HP:0001257HP:0007199Progressive spastic paraparesis3LAGE3 CL E G H8270301006GALLOWAY-MOWAT SYNDROME 2, X-LINKED301006C4538784OMIM127026058300060
HP:0001257HP:0007020Progressive spastic paraplegia3LAGE3 CL E G H8270301006GALLOWAY-MOWAT SYNDROME 2, X-LINKED301006C4538784OMIM127026058300060
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3LAGE3 CL E G H8270301006GALLOWAY-MOWAT SYNDROME 2, X-LINKED301006C4538784OMIM127026058300060
HP:0001257HP:0012407Scissor gait3LAGE3 CL E G H8270301006GALLOWAY-MOWAT SYNDROME 2, X-LINKED301006C4538784OMIM127026058300060
HP:0001257HP:0007199Progressive spastic paraparesis3LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0001257HP:0007020Progressive spastic paraplegia3LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0001257HP:0012407Scissor gait3LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0001257HP:0007199Progressive spastic paraparesis3LMNB1 CL E G H400199027ORPHA12416637150340
HP:0001257HP:0007020Progressive spastic paraplegia3LMNB1 CL E G H400199027ORPHA12416637150340
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3LMNB1 CL E G H400199027ORPHA12416637150340
HP:0001257HP:0012407Scissor gait3LMNB1 CL E G H400199027ORPHA12416637150340
HP:0001257HP:0007199Progressive spastic paraparesis3LMNB1 CL E G H4001169500Leukodystrophy, adult-onset, autosomal dominant169500C1868512OMIM12416637150340
HP:0001257HP:0007020Progressive spastic paraplegia3LMNB1 CL E G H4001169500Leukodystrophy, adult-onset, autosomal dominant169500C1868512OMIM12416637150340
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3LMNB1 CL E G H4001169500Leukodystrophy, adult-onset, autosomal dominant169500C1868512OMIM12416637150340
HP:0001257HP:0012407Scissor gait3LMNB1 CL E G H4001169500Leukodystrophy, adult-onset, autosomal dominant169500C1868512OMIM12416637150340
HP:0001257HP:0007199Progressive spastic paraparesis3MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM113516826609458
HP:0001257HP:0007020Progressive spastic paraplegia3MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM113516826609458
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM113516826609458
HP:0001257HP:0012407Scissor gait3MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM113516826609458
HP:0001257HP:0007199Progressive spastic paraparesis3MARS2 CL E G H92935611390Ataxia, spastic, 3, autosomal recessive611390C1969645OMIM120425133609728
HP:0001257HP:0007020Progressive spastic paraplegia3MARS2 CL E G H92935611390Ataxia, spastic, 3, autosomal recessive611390C1969645OMIM120425133609728
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3MARS2 CL E G H92935611390Ataxia, spastic, 3, autosomal recessive611390C1969645OMIM120425133609728
HP:0001257HP:0012407Scissor gait3MARS2 CL E G H92935611390Ataxia, spastic, 3, autosomal recessive611390C1969645OMIM120425133609728
HP:0001257HP:0007199Progressive spastic paraparesis3MATR3 CL E G H9782803ORPHA14506912164015
HP:0001257HP:0007020Progressive spastic paraplegia3MATR3 CL E G H9782803ORPHA14506912164015
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3MATR3 CL E G H9782803ORPHA14506912164015
HP:0001257HP:0012407Scissor gait3MATR3 CL E G H9782803ORPHA14506912164015
HP:0001257HP:0007199Progressive spastic paraparesis3MECP2 CL E G H4204778ORPHA119256990300005
HP:0001257HP:0007020Progressive spastic paraplegia3MECP2 CL E G H4204778ORPHA119256990300005
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3MECP2 CL E G H4204778ORPHA119256990300005
HP:0001257HP:0012407Scissor gait3MECP2 CL E G H4204778ORPHA119256990300005
HP:0001257HP:0007199Progressive spastic paraparesis3MECP2 CL E G H42043095ORPHA119256990300005
HP:0001257HP:0007020Progressive spastic paraplegia3MECP2 CL E G H42043095ORPHA119256990300005
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3MECP2 CL E G H42043095ORPHA119256990300005
HP:0001257HP:0012407Scissor gait3MECP2 CL E G H42043095ORPHA119256990300005
HP:0001257HP:0007199Progressive spastic paraparesis3MECP2 CL E G H4204312750Rett syndrome312750C0035372OMIM119256990300005
HP:0001257HP:0007020Progressive spastic paraplegia3MECP2 CL E G H4204312750Rett syndrome312750C0035372OMIM119256990300005
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3MECP2 CL E G H4204312750Rett syndrome312750C0035372OMIM119256990300005
HP:0001257HP:0012407Scissor gait3MECP2 CL E G H4204312750Rett syndrome312750C0035372OMIM119256990300005
HP:0001257HP:0007199Progressive spastic paraparesis3MED17 CL E G H9440613668Microcephaly, postnatal progressive, with seizures and brain atrophy613668C3150921OMIM14662375603810
HP:0001257HP:0007020Progressive spastic paraplegia3MED17 CL E G H9440613668Microcephaly, postnatal progressive, with seizures and brain atrophy613668C3150921OMIM14662375603810
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3MED17 CL E G H9440613668Microcephaly, postnatal progressive, with seizures and brain atrophy613668C3150921OMIM14662375603810
HP:0001257HP:0012407Scissor gait3MED17 CL E G H9440613668Microcephaly, postnatal progressive, with seizures and brain atrophy613668C3150921OMIM14662375603810
HP:0001257HP:0007199Progressive spastic paraparesis3MED25 CL E G H81857616449Basel-Vanagaite-Smirin-Yosef syndrome616449C4225323OMIM166628845610197
HP:0001257HP:0007020Progressive spastic paraplegia3MED25 CL E G H81857616449Basel-Vanagaite-Smirin-Yosef syndrome616449C4225323OMIM166628845610197
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3MED25 CL E G H81857616449Basel-Vanagaite-Smirin-Yosef syndrome616449C4225323OMIM166628845610197
HP:0001257HP:0012407Scissor gait3MED25 CL E G H81857616449Basel-Vanagaite-Smirin-Yosef syndrome616449C4225323OMIM166628845610197
HP:0001257HP:0007199Progressive spastic paraparesis3MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM115524858614785
HP:0001257HP:0007020Progressive spastic paraplegia3MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM115524858614785
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM115524858614785
HP:0001257HP:0012407Scissor gait3MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM115524858614785
HP:0001257HP:0007199Progressive spastic paraparesis3MLC1 CL E G H23209604004Megalencephalic leukoencephalopathy with subcortical cysts 1604004C1858854OMIM167717082605908
HP:0001257HP:0007020Progressive spastic paraplegia3MLC1 CL E G H23209604004Megalencephalic leukoencephalopathy with subcortical cysts 1604004C1858854OMIM167717082605908
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3MLC1 CL E G H23209604004Megalencephalic leukoencephalopathy with subcortical cysts 1604004C1858854OMIM167717082605908
HP:0001257HP:0012407Scissor gait3MLC1 CL E G H23209604004Megalencephalic leukoencephalopathy with subcortical cysts 1604004C1858854OMIM167717082605908
HP:0001257HP:0007199Progressive spastic paraparesis3MRPS34 CL E G H65993617664COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32617664C4540029OMIM113816618611994
HP:0001257HP:0007020Progressive spastic paraplegia3MRPS34 CL E G H65993617664COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32617664C4540029OMIM113816618611994
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3MRPS34 CL E G H65993617664COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32617664C4540029OMIM113816618611994
HP:0001257HP:0012407Scissor gait3MRPS34 CL E G H65993617664COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32617664C4540029OMIM113816618611994
HP:0001257HP:0007199Progressive spastic paraparesis3MT-TF CL E G H4558545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17481590070
HP:0001257HP:0007020Progressive spastic paraplegia3MT-TF CL E G H4558545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17481590070
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3MT-TF CL E G H4558545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17481590070
HP:0001257HP:0012407Scissor gait3MT-TF CL E G H4558545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17481590070
HP:0001257HP:0007199Progressive spastic paraparesis3MT-TI CL E G H4565545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17488590045
HP:0001257HP:0007020Progressive spastic paraplegia3MT-TI CL E G H4565545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17488590045
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3MT-TI CL E G H4565545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17488590045
HP:0001257HP:0012407Scissor gait3MT-TI CL E G H4565545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17488590045
HP:0001257HP:0007199Progressive spastic paraparesis3MT-TK CL E G H4566545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17489590060
HP:0001257HP:0007020Progressive spastic paraplegia3MT-TK CL E G H4566545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17489590060
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3MT-TK CL E G H4566545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17489590060
HP:0001257HP:0012407Scissor gait3MT-TK CL E G H4566545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17489590060
HP:0001257HP:0007199Progressive spastic paraparesis3MT-TL1 CL E G H4567545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17490590050
HP:0001257HP:0007020Progressive spastic paraplegia3MT-TL1 CL E G H4567545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17490590050
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3MT-TL1 CL E G H4567545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17490590050
HP:0001257HP:0012407Scissor gait3MT-TL1 CL E G H4567545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17490590050
HP:0001257HP:0007199Progressive spastic paraparesis3MT-TP CL E G H4571545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17494590075
HP:0001257HP:0007020Progressive spastic paraplegia3MT-TP CL E G H4571545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17494590075
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3MT-TP CL E G H4571545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17494590075
HP:0001257HP:0012407Scissor gait3MT-TP CL E G H4571545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17494590075
HP:0001257HP:0007199Progressive spastic paraparesis3MTFMT CL E G H123263618248MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27618248OMIM124329666611766
HP:0001257HP:0007020Progressive spastic paraplegia3MTFMT CL E G H123263618248MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27618248OMIM124329666611766
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3MTFMT CL E G H123263618248MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27618248OMIM124329666611766
HP:0001257HP:0012407Scissor gait3MTFMT CL E G H123263618248MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27618248OMIM124329666611766
HP:0001257HP:0007199Progressive spastic paraparesis3NACC1 CL E G H112939617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination617393C4479333OMIM134120967610672
HP:0001257HP:0007020Progressive spastic paraplegia3NACC1 CL E G H112939617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination617393C4479333OMIM134120967610672
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3NACC1 CL E G H112939617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination617393C4479333OMIM134120967610672
HP:0001257HP:0012407Scissor gait3NACC1 CL E G H112939617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination617393C4479333OMIM134120967610672
HP:0001257HP:0007199Progressive spastic paraparesis3NADK2 CL E G H1336866160342,4-Dienoyl-CoA reductase deficiency616034C1857252OMIM122126404615787
HP:0001257HP:0007020Progressive spastic paraplegia3NADK2 CL E G H1336866160342,4-Dienoyl-CoA reductase deficiency616034C1857252OMIM122126404615787
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3NADK2 CL E G H1336866160342,4-Dienoyl-CoA reductase deficiency616034C1857252OMIM122126404615787
HP:0001257HP:0012407Scissor gait3NADK2 CL E G H1336866160342,4-Dienoyl-CoA reductase deficiency616034C1857252OMIM122126404615787
HP:0001257HP:0007199Progressive spastic paraparesis3NAGA CL E G H466879279ORPHA12307631104170
HP:0001257HP:0007020Progressive spastic paraplegia3NAGA CL E G H466879279ORPHA12307631104170
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3NAGA CL E G H466879279ORPHA12307631104170
HP:0001257HP:0012407Scissor gait3NAGA CL E G H466879279ORPHA12307631104170
HP:0001257HP:0007199Progressive spastic paraparesis3NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM12307631104170
HP:0001257HP:0007020Progressive spastic paraplegia3NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM12307631104170
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM12307631104170
HP:0001257HP:0012407Scissor gait3NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM12307631104170
HP:0001257HP:0007199Progressive spastic paraparesis3NARS2 CL E G H79731616239Combined oxidative phosphorylation deficiency 24616239C4015643OMIM130226274612803
HP:0001257HP:0007020Progressive spastic paraplegia3NARS2 CL E G H79731616239Combined oxidative phosphorylation deficiency 24616239C4015643OMIM130226274612803
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3NARS2 CL E G H79731616239Combined oxidative phosphorylation deficiency 24616239C4015643OMIM130226274612803
HP:0001257HP:0012407Scissor gait3NARS2 CL E G H79731616239Combined oxidative phosphorylation deficiency 24616239C4015643OMIM130226274612803
HP:0001257HP:0007199Progressive spastic paraparesis3NDUFA6 CL E G H4700618253MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33618253OMIM1907690602138
HP:0001257HP:0007020Progressive spastic paraplegia3NDUFA6 CL E G H4700618253MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33618253OMIM1907690602138
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3NDUFA6 CL E G H4700618253MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33618253OMIM1907690602138
HP:0001257HP:0012407Scissor gait3NDUFA6 CL E G H4700618253MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33618253OMIM1907690602138
HP:0001257HP:0007199Progressive spastic paraparesis3NDUFAF5 CL E G H79133618238MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16618238OMIM138315899612360
HP:0001257HP:0007020Progressive spastic paraplegia3NDUFAF5 CL E G H79133618238MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16618238OMIM138315899612360
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3NDUFAF5 CL E G H79133618238MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16618238OMIM138315899612360
HP:0001257HP:0012407Scissor gait3NDUFAF5 CL E G H79133618238MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16618238OMIM138315899612360
HP:0001257HP:0007199Progressive spastic paraparesis3NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0001257HP:0007020Progressive spastic paraplegia3NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0001257HP:0012407Scissor gait3NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0001257HP:0007199Progressive spastic paraparesis3NDUFV2 CL E G H4729618229MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7618229OMIM12297717600532
HP:0001257HP:0007020Progressive spastic paraplegia3NDUFV2 CL E G H4729618229MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7618229OMIM12297717600532
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3NDUFV2 CL E G H4729618229MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7618229OMIM12297717600532
HP:0001257HP:0012407Scissor gait3NDUFV2 CL E G H4729618229MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7618229OMIM12297717600532
HP:0001257HP:0007199Progressive spastic paraparesis3NEFH CL E G H4744803ORPHA17147737162230
HP:0001257HP:0007020Progressive spastic paraplegia3NEFH CL E G H4744803ORPHA17147737162230
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3NEFH CL E G H4744803ORPHA17147737162230
HP:0001257HP:0012407Scissor gait3NEFH CL E G H4744803ORPHA17147737162230
HP:0001257HP:0007199Progressive spastic paraparesis3NEK1 CL E G H4750803ORPHA16797744604588
HP:0001257HP:0007020Progressive spastic paraplegia3NEK1 CL E G H4750803ORPHA16797744604588
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3NEK1 CL E G H4750803ORPHA16797744604588
HP:0001257HP:0012407Scissor gait3NEK1 CL E G H4750803ORPHA16797744604588
HP:0001257HP:0007199Progressive spastic paraparesis3NEXMIF CL E G H340533300912Mental retardation, X-linked 98300912C3806730OMIM199029433300524
HP:0001257HP:0007020Progressive spastic paraplegia3NEXMIF CL E G H340533300912Mental retardation, X-linked 98300912C3806730OMIM199029433300524
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3NEXMIF CL E G H340533300912Mental retardation, X-linked 98300912C3806730OMIM199029433300524
HP:0001257HP:0012407Scissor gait3NEXMIF CL E G H340533300912Mental retardation, X-linked 98300912C3806730OMIM199029433300524
HP:0001257HP:0007199Progressive spastic paraparesis3NKX6-2 CL E G H84504617560SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY617560C4479653OMIM123319321605955
HP:0001257HP:0007020Progressive spastic paraplegia3NKX6-2 CL E G H84504617560SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY617560C4479653OMIM123319321605955
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3NKX6-2 CL E G H84504617560SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY617560C4479653OMIM123319321605955
HP:0001257HP:0012407Scissor gait3NKX6-2 CL E G H84504617560SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY617560C4479653OMIM123319321605955
HP:0001257HP:0007199Progressive spastic paraparesis3NOTCH3 CL E G H4854136ORPHA113437883600276
HP:0001257HP:0007020Progressive spastic paraplegia3NOTCH3 CL E G H4854136ORPHA113437883600276
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3NOTCH3 CL E G H4854136ORPHA113437883600276
HP:0001257HP:0012407Scissor gait3NOTCH3 CL E G H4854136ORPHA113437883600276
HP:0001257HP:0007199Progressive spastic paraparesis3NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM121097897607623
HP:0001257HP:0007020Progressive spastic paraplegia3NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM121097897607623
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM121097897607623
HP:0001257HP:0012407Scissor gait3NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM121097897607623
HP:0001257HP:0007199Progressive spastic paraparesis3NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM123214537601015
HP:0001257HP:0007020Progressive spastic paraplegia3NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM123214537601015
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM123214537601015
HP:0001257HP:0012407Scissor gait3NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM123214537601015
HP:0001257HP:0007199Progressive spastic paraparesis3NSD1 CL E G H643243447ORPHA1173414234606681
HP:0001257HP:0007020Progressive spastic paraplegia3NSD1 CL E G H643243447ORPHA1173414234606681
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3NSD1 CL E G H643243447ORPHA1173414234606681
HP:0001257HP:0012407Scissor gait3NSD1 CL E G H643243447ORPHA1173414234606681
HP:0001257HP:0007199Progressive spastic paraparesis3NSUN2 CL E G H54888611091Mental retardation, autosomal recessive 5611091C1970199OMIM156625994610916
HP:0001257HP:0007020Progressive spastic paraplegia3NSUN2 CL E G H54888611091Mental retardation, autosomal recessive 5611091C1970199OMIM156625994610916
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3NSUN2 CL E G H54888611091Mental retardation, autosomal recessive 5611091C1970199OMIM156625994610916
HP:0001257HP:0012407Scissor gait3NSUN2 CL E G H54888611091Mental retardation, autosomal recessive 5611091C1970199OMIM156625994610916
HP:0001257HP:0007199Progressive spastic paraparesis3NTNG1 CL E G H228543095ORPHA15723319608818
HP:0001257HP:0007020Progressive spastic paraplegia3NTNG1 CL E G H228543095ORPHA15723319608818
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3NTNG1 CL E G H228543095ORPHA15723319608818
HP:0001257HP:0012407Scissor gait3NTNG1 CL E G H228543095ORPHA15723319608818
HP:0001257HP:0007199Progressive spastic paraparesis3NUBPL CL E G H80224618242MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21618242OMIM128420278613621
HP:0001257HP:0007020Progressive spastic paraplegia3NUBPL CL E G H80224618242MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21618242OMIM128420278613621
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3NUBPL CL E G H80224618242MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21618242OMIM128420278613621
HP:0001257HP:0012407Scissor gait3NUBPL CL E G H80224618242MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21618242OMIM128420278613621
HP:0001257HP:0007199Progressive spastic paraparesis3NUP62 CL E G H23636271930Striatonigral degeneration infantile271930C0795996OMIM11618066605815
HP:0001257HP:0007020Progressive spastic paraplegia3NUP62 CL E G H23636271930Striatonigral degeneration infantile271930C0795996OMIM11618066605815
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3NUP62 CL E G H23636271930Striatonigral degeneration infantile271930C0795996OMIM11618066605815
HP:0001257HP:0012407Scissor gait3NUP62 CL E G H23636271930Striatonigral degeneration infantile271930C0795996OMIM11618066605815
HP:0001257HP:0007199Progressive spastic paraparesis3NUS1 CL E G H116150617082CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa617082C4310727OMIM132621042610463
HP:0001257HP:0007020Progressive spastic paraplegia3NUS1 CL E G H116150617082CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa617082C4310727OMIM132621042610463
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3NUS1 CL E G H116150617082CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa617082C4310727OMIM132621042610463
HP:0001257HP:0012407Scissor gait3NUS1 CL E G H116150617082CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa617082C4310727OMIM132621042610463
HP:0001257HP:0007199Progressive spastic paraparesis3OCLN CL E G H1005066581229ORPHA11388104602876
HP:0001257HP:0007020Progressive spastic paraplegia3OCLN CL E G H1005066581229ORPHA11388104602876
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3OCLN CL E G H1005066581229ORPHA11388104602876
HP:0001257HP:0012407Scissor gait3OCLN CL E G H1005066581229ORPHA11388104602876
HP:0001257HP:0007199Progressive spastic paraparesis3OCLN CL E G H100506658251290Band-like calcification with simplified gyration and polymicrogyria251290C3489725OMIM11388104602876
HP:0001257HP:0007020Progressive spastic paraplegia3OCLN CL E G H100506658251290Band-like calcification with simplified gyration and polymicrogyria251290C3489725OMIM11388104602876
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3OCLN CL E G H100506658251290Band-like calcification with simplified gyration and polymicrogyria251290C3489725OMIM11388104602876
HP:0001257HP:0012407Scissor gait3OCLN CL E G H100506658251290Band-like calcification with simplified gyration and polymicrogyria251290C3489725OMIM11388104602876
HP:0001257HP:0007199Progressive spastic paraparesis3OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM15238142606580
HP:0001257HP:0007020Progressive spastic paraplegia3OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM15238142606580
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM15238142606580
HP:0001257HP:0012407Scissor gait3OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM15238142606580
HP:0001257HP:0007199Progressive spastic paraparesis3OPHN1 CL E G H4983300486Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance300486C1845366OMIM14758148300127
HP:0001257HP:0007020Progressive spastic paraplegia3OPHN1 CL E G H4983300486Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance300486C1845366OMIM14758148300127
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3OPHN1 CL E G H4983300486Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance300486C1845366OMIM14758148300127
HP:0001257HP:0012407Scissor gait3OPHN1 CL E G H4983300486Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance300486C1845366OMIM14758148300127
HP:0001257HP:0007199Progressive spastic paraparesis3OPTN CL E G H10133803ORPHA142817142602432
HP:0001257HP:0007020Progressive spastic paraplegia3OPTN CL E G H10133803ORPHA142817142602432
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3OPTN CL E G H10133803ORPHA142817142602432
HP:0001257HP:0012407Scissor gait3OPTN CL E G H10133803ORPHA142817142602432
HP:0001257HP:0007199Progressive spastic paraparesis3OSGEP CL E G H55644617729GALLOWAY-MOWAT SYNDROME 3617729C4540266OMIM115218028610107
HP:0001257HP:0007020Progressive spastic paraplegia3OSGEP CL E G H55644617729GALLOWAY-MOWAT SYNDROME 3617729C4540266OMIM115218028610107
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3OSGEP CL E G H55644617729GALLOWAY-MOWAT SYNDROME 3617729C4540266OMIM115218028610107
HP:0001257HP:0012407Scissor gait3OSGEP CL E G H55644617729GALLOWAY-MOWAT SYNDROME 3617729C4540266OMIM115218028610107
HP:0001257HP:0007199Progressive spastic paraparesis3PANK2 CL E G H80025216873ORPHA149915894606157
HP:0001257HP:0007020Progressive spastic paraplegia3PANK2 CL E G H80025216873ORPHA149915894606157
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3PANK2 CL E G H80025216873ORPHA149915894606157
HP:0001257HP:0012407Scissor gait3PANK2 CL E G H80025216873ORPHA149915894606157
HP:0001257HP:0007199Progressive spastic paraparesis3PANK2 CL E G H80025607236Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration607236C1846582OMIM149915894606157
HP:0001257HP:0007020Progressive spastic paraplegia3PANK2 CL E G H80025607236Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration607236C1846582OMIM149915894606157
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3PANK2 CL E G H80025607236Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration607236C1846582OMIM149915894606157
HP:0001257HP:0012407Scissor gait3PANK2 CL E G H80025607236Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration607236C1846582OMIM149915894606157
HP:0001257HP:0007199Progressive spastic paraparesis3PANK2 CL E G H80025234200Pigmentary pallidal degeneration234200C0018523OMIM149915894606157
HP:0001257HP:0007020Progressive spastic paraplegia3PANK2 CL E G H80025234200Pigmentary pallidal degeneration234200C0018523OMIM149915894606157
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3PANK2 CL E G H80025234200Pigmentary pallidal degeneration234200C0018523OMIM149915894606157
HP:0001257HP:0012407Scissor gait3PANK2 CL E G H80025234200Pigmentary pallidal degeneration234200C0018523OMIM149915894606157
HP:0001257HP:0007199Progressive spastic paraparesis3PCLO CL E G H27445608027Pontocerebellar hypoplasia type 3608027C1842687OMIM1243013406604918
HP:0001257HP:0007020Progressive spastic paraplegia3PCLO CL E G H27445608027Pontocerebellar hypoplasia type 3608027C1842687OMIM1243013406604918
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3PCLO CL E G H27445608027Pontocerebellar hypoplasia type 3608027C1842687OMIM1243013406604918
HP:0001257HP:0012407Scissor gait3PCLO CL E G H27445608027Pontocerebellar hypoplasia type 3608027C1842687OMIM1243013406604918
HP:0001257HP:0007199Progressive spastic paraparesis3PEX1 CL E G H5189772ORPHA115378850602136
HP:0001257HP:0007020Progressive spastic paraplegia3PEX1 CL E G H5189772ORPHA115378850602136
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3PEX1 CL E G H5189772ORPHA115378850602136
HP:0001257HP:0012407Scissor gait3PEX1 CL E G H5189772ORPHA115378850602136
HP:0001257HP:0007199Progressive spastic paraparesis3PEX10 CL E G H5192772ORPHA18038851602859
HP:0001257HP:0007020Progressive spastic paraplegia3PEX10 CL E G H5192772ORPHA18038851602859
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3PEX10 CL E G H5192772ORPHA18038851602859
HP:0001257HP:0012407Scissor gait3PEX10 CL E G H5192772ORPHA18038851602859
HP:0001257HP:0007199Progressive spastic paraparesis3PEX11B CL E G H8799772ORPHA14158853603867
HP:0001257HP:0007020Progressive spastic paraplegia3PEX11B CL E G H8799772ORPHA14158853603867
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3PEX11B CL E G H8799772ORPHA14158853603867
HP:0001257HP:0012407Scissor gait3PEX11B CL E G H8799772ORPHA14158853603867
HP:0001257HP:0007199Progressive spastic paraparesis3PEX12 CL E G H5193772ORPHA14598854601758
HP:0001257HP:0007020Progressive spastic paraplegia3PEX12 CL E G H5193772ORPHA14598854601758
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3PEX12 CL E G H5193772ORPHA14598854601758
HP:0001257HP:0012407Scissor gait3PEX12 CL E G H5193772ORPHA14598854601758
HP:0001257HP:0007199Progressive spastic paraparesis3PEX13 CL E G H5194772ORPHA14978855601789
HP:0001257HP:0007020Progressive spastic paraplegia3PEX13 CL E G H5194772ORPHA14978855601789
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3PEX13 CL E G H5194772ORPHA14978855601789
HP:0001257HP:0012407Scissor gait3PEX13 CL E G H5194772ORPHA14978855601789
HP:0001257HP:0007199Progressive spastic paraparesis3PEX14 CL E G H5195772ORPHA14748856601791
HP:0001257HP:0007020Progressive spastic paraplegia3PEX14 CL E G H5195772ORPHA14748856601791
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3PEX14 CL E G H5195772ORPHA14748856601791
HP:0001257HP:0012407Scissor gait3PEX14 CL E G H5195772ORPHA14748856601791
HP:0001257HP:0007199Progressive spastic paraparesis3PEX16 CL E G H9409772ORPHA14708857603360
HP:0001257HP:0007020Progressive spastic paraplegia3PEX16 CL E G H9409772ORPHA14708857603360
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3PEX16 CL E G H9409772ORPHA14708857603360
HP:0001257HP:0012407Scissor gait3PEX16 CL E G H9409772ORPHA14708857603360
HP:0001257HP:0007199Progressive spastic paraparesis3PEX19 CL E G H5824772ORPHA13799713600279
HP:0001257HP:0007020Progressive spastic paraplegia3PEX19 CL E G H5824772ORPHA13799713600279
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3PEX19 CL E G H5824772ORPHA13799713600279
HP:0001257HP:0012407Scissor gait3PEX19 CL E G H5824772ORPHA13799713600279
HP:0001257HP:0007199Progressive spastic paraparesis3PEX2 CL E G H5828772ORPHA14639717170993
HP:0001257HP:0007020Progressive spastic paraplegia3PEX2 CL E G H5828772ORPHA14639717170993
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3PEX2 CL E G H5828772ORPHA14639717170993
HP:0001257HP:0012407Scissor gait3PEX2 CL E G H5828772ORPHA14639717170993
HP:0001257HP:0007199Progressive spastic paraparesis3PEX26 CL E G H55670772ORPHA152222965608666
HP:0001257HP:0007020Progressive spastic paraplegia3PEX26 CL E G H55670772ORPHA152222965608666
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3PEX26 CL E G H55670772ORPHA152222965608666
HP:0001257HP:0012407Scissor gait3PEX26 CL E G H55670772ORPHA152222965608666
HP:0001257HP:0007199Progressive spastic paraparesis3PEX3 CL E G H8504772ORPHA13588858603164
HP:0001257HP:0007020Progressive spastic paraplegia3PEX3 CL E G H8504772ORPHA13588858603164
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3PEX3 CL E G H8504772ORPHA13588858603164
HP:0001257HP:0012407Scissor gait3PEX3 CL E G H8504772ORPHA13588858603164
HP:0001257HP:0007199Progressive spastic paraparesis3PEX5 CL E G H5830772ORPHA18589719600414
HP:0001257HP:0007020Progressive spastic paraplegia3PEX5 CL E G H5830772ORPHA18589719600414
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3PEX5 CL E G H5830772ORPHA18589719600414
HP:0001257HP:0012407Scissor gait3PEX5 CL E G H5830772ORPHA18589719600414
HP:0001257HP:0007199Progressive spastic paraparesis3PEX6 CL E G H5190772ORPHA114588859601498
HP:0001257HP:0007020Progressive spastic paraplegia3PEX6 CL E G H5190772ORPHA114588859601498
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3PEX6 CL E G H5190772ORPHA114588859601498
HP:0001257HP:0012407Scissor gait3PEX6 CL E G H5190772ORPHA114588859601498
HP:0001257HP:0007199Progressive spastic paraparesis3PEX7 CL E G H5191215100Rhizomelic chondrodysplasia punctata type 1215100C1859133OMIM15508860601757
HP:0001257HP:0007020Progressive spastic paraplegia3PEX7 CL E G H5191215100Rhizomelic chondrodysplasia punctata type 1215100C1859133OMIM15508860601757
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3PEX7 CL E G H5191215100Rhizomelic chondrodysplasia punctata type 1215100C1859133OMIM15508860601757
HP:0001257HP:0012407Scissor gait3PEX7 CL E G H5191215100Rhizomelic chondrodysplasia punctata type 1215100C1859133OMIM15508860601757
HP:0001257HP:0007199Progressive spastic paraparesis3PFN1 CL E G H5216803ORPHA11018881176610
HP:0001257HP:0007020Progressive spastic paraplegia3PFN1 CL E G H5216803ORPHA11018881176610
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3PFN1 CL E G H5216803ORPHA11018881176610
HP:0001257HP:0012407Scissor gait3PFN1 CL E G H5216803ORPHA11018881176610
HP:0001257HP:0007199Progressive spastic paraparesis3PFN1 CL E G H5216614808Amyotrophic lateral sclerosis 18614808C3553719OMIM11018881176610
HP:0001257HP:0007020Progressive spastic paraplegia3PFN1 CL E G H5216614808Amyotrophic lateral sclerosis 18614808C3553719OMIM11018881176610
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3PFN1 CL E G H5216614808Amyotrophic lateral sclerosis 18614808C3553719OMIM11018881176610
HP:0001257HP:0012407Scissor gait3PFN1 CL E G H5216614808Amyotrophic lateral sclerosis 18614808C3553719OMIM11018881176610
HP:0001257HP:0007199Progressive spastic paraparesis3PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM14838957311770
HP:0001257HP:0007020Progressive spastic paraplegia3PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM14838957311770
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM14838957311770
HP:0001257HP:0012407Scissor gait3PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM14838957311770
HP:0001257HP:0007199Progressive spastic paraparesis3PIGN CL E G H23556614080Multiple congenital anomalies-hypotonia-seizures syndrome 1614080C3279775OMIM110108967606097
HP:0001257HP:0007020Progressive spastic paraplegia3PIGN CL E G H23556614080Multiple congenital anomalies-hypotonia-seizures syndrome 1614080C3279775OMIM110108967606097
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3PIGN CL E G H23556614080Multiple congenital anomalies-hypotonia-seizures syndrome 1614080C3279775OMIM110108967606097
HP:0001257HP:0012407Scissor gait3PIGN CL E G H23556614080Multiple congenital anomalies-hypotonia-seizures syndrome 1614080C3279775OMIM110108967606097
HP:0001257HP:0007199Progressive spastic paraparesis3PLA2G6 CL E G H8398199351ORPHA17759039603604
HP:0001257HP:0007020Progressive spastic paraplegia3PLA2G6 CL E G H8398199351ORPHA17759039603604
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3PLA2G6 CL E G H8398199351ORPHA17759039603604
HP:0001257HP:0012407Scissor gait3PLA2G6 CL E G H8398199351ORPHA17759039603604
HP:0001257HP:0007199Progressive spastic paraparesis3PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001257HP:0007020Progressive spastic paraplegia3PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001257HP:0012407Scissor gait3PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001257HP:0007199Progressive spastic paraparesis3PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM17759039603604
HP:0001257HP:0007020Progressive spastic paraplegia3PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM17759039603604
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM17759039603604
HP:0001257HP:0012407Scissor gait3PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM17759039603604
HP:0001257HP:0007199Progressive spastic paraparesis3PLCB1 CL E G H23236613722Early infantile epileptic encephalopathy 12613722C3150988OMIM1110715917607120
HP:0001257HP:0007020Progressive spastic paraplegia3PLCB1 CL E G H23236613722Early infantile epileptic encephalopathy 12613722C3150988OMIM1110715917607120
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3PLCB1 CL E G H23236613722Early infantile epileptic encephalopathy 12613722C3150988OMIM1110715917607120
HP:0001257HP:0012407Scissor gait3PLCB1 CL E G H23236613722Early infantile epileptic encephalopathy 12613722C3150988OMIM1110715917607120
HP:0001257HP:0007199Progressive spastic paraparesis3PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM120518667613036
HP:0001257HP:0007020Progressive spastic paraplegia3PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM120518667613036
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM120518667613036
HP:0001257HP:0012407Scissor gait3PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM120518667613036
HP:0001257HP:0007199Progressive spastic paraparesis3PMPCB CL E G H9512617954MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6617954CN244567OMIM11339119603131
HP:0001257HP:0007020Progressive spastic paraplegia3PMPCB CL E G H9512617954MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6617954CN244567OMIM11339119603131
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3PMPCB CL E G H9512617954MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6617954CN244567OMIM11339119603131
HP:0001257HP:0012407Scissor gait3PMPCB CL E G H9512617954MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6617954CN244567OMIM11339119603131
HP:0001257HP:0007199Progressive spastic paraparesis3PNPLA8 CL E G H50640251950Mitochondrial myopathy with lactic acidosis251950C1855033OMIM127128900612123
HP:0001257HP:0007020Progressive spastic paraplegia3PNPLA8 CL E G H50640251950Mitochondrial myopathy with lactic acidosis251950C1855033OMIM127128900612123
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3PNPLA8 CL E G H50640251950Mitochondrial myopathy with lactic acidosis251950C1855033OMIM127128900612123
HP:0001257HP:0012407Scissor gait3PNPLA8 CL E G H50640251950Mitochondrial myopathy with lactic acidosis251950C1855033OMIM127128900612123
HP:0001257HP:0007199Progressive spastic paraparesis3POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM1102530074614258
HP:0001257HP:0007020Progressive spastic paraplegia3POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM1102530074614258
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM1102530074614258
HP:0001257HP:0012407Scissor gait3POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM1102530074614258
HP:0001257HP:0007199Progressive spastic paraparesis3POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM151030348614366
HP:0001257HP:0007020Progressive spastic paraplegia3POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM151030348614366
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM151030348614366
HP:0001257HP:0012407Scissor gait3POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM151030348614366
HP:0001257HP:0007199Progressive spastic paraparesis3POLR3B CL E G H55703614381Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism614381C3280644OMIM151030348614366
HP:0001257HP:0007020Progressive spastic paraplegia3POLR3B CL E G H55703614381Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism614381C3280644OMIM151030348614366
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3POLR3B CL E G H55703614381Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism614381C3280644OMIM151030348614366
HP:0001257HP:0012407Scissor gait3POLR3B CL E G H55703614381Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism614381C3280644OMIM151030348614366
HP:0001257HP:0007199Progressive spastic paraparesis3POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM1117419139606822
HP:0001257HP:0007020Progressive spastic paraplegia3POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM1117419139606822
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM1117419139606822
HP:0001257HP:0012407Scissor gait3POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM1117419139606822
HP:0001257HP:0007199Progressive spastic paraparesis3PON1 CL E G H5444803ORPHA1659204168820
HP:0001257HP:0007020Progressive spastic paraplegia3PON1 CL E G H5444803ORPHA1659204168820
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3PON1 CL E G H5444803ORPHA1659204168820
HP:0001257HP:0012407Scissor gait3PON1 CL E G H5444803ORPHA1659204168820
HP:0001257HP:0007199Progressive spastic paraparesis3PON2 CL E G H5445803ORPHA1689205602447
HP:0001257HP:0007020Progressive spastic paraplegia3PON2 CL E G H5445803ORPHA1689205602447
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3PON2 CL E G H5445803ORPHA1689205602447
HP:0001257HP:0012407Scissor gait3PON2 CL E G H5445803ORPHA1689205602447
HP:0001257HP:0007199Progressive spastic paraparesis3PON3 CL E G H5446803ORPHA1629206602720
HP:0001257HP:0007020Progressive spastic paraplegia3PON3 CL E G H5446803ORPHA1629206602720
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3PON3 CL E G H5446803ORPHA1629206602720
HP:0001257HP:0012407Scissor gait3PON3 CL E G H5446803ORPHA1629206602720
HP:0001257HP:0007199Progressive spastic paraparesis3PPARGC1A CL E G H10891803ORPHA1719237604517
HP:0001257HP:0007020Progressive spastic paraplegia3PPARGC1A CL E G H10891803ORPHA1719237604517
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3PPARGC1A CL E G H10891803ORPHA1719237604517
HP:0001257HP:0012407Scissor gait3PPARGC1A CL E G H10891803ORPHA1719237604517
HP:0001257HP:0007199Progressive spastic paraparesis3PPP1R15B CL E G H84919616817Microcephaly, short stature, and impaired glucose metabolism 2616817C4225195OMIM113414951613257
HP:0001257HP:0007020Progressive spastic paraplegia3PPP1R15B CL E G H84919616817Microcephaly, short stature, and impaired glucose metabolism 2616817C4225195OMIM113414951613257
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3PPP1R15B CL E G H84919616817Microcephaly, short stature, and impaired glucose metabolism 2616817C4225195OMIM113414951613257
HP:0001257HP:0012407Scissor gait3PPP1R15B CL E G H84919616817Microcephaly, short stature, and impaired glucose metabolism 2616817C4225195OMIM113414951613257
HP:0001257HP:0007199Progressive spastic paraparesis3PPT1 CL E G H5538256730Ceroid lipofuscinosis neuronal 1256730C1850451OMIM16179325600722
HP:0001257HP:0007020Progressive spastic paraplegia3PPT1 CL E G H5538256730Ceroid lipofuscinosis neuronal 1256730C1850451OMIM16179325600722
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3PPT1 CL E G H5538256730Ceroid lipofuscinosis neuronal 1256730C1850451OMIM16179325600722
HP:0001257HP:0012407Scissor gait3PPT1 CL E G H5538256730Ceroid lipofuscinosis neuronal 1256730C1850451OMIM16179325600722
HP:0001257HP:0007199Progressive spastic paraparesis3PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM13099330300463
HP:0001257HP:0007020Progressive spastic paraplegia3PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM13099330300463
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM13099330300463
HP:0001257HP:0012407Scissor gait3PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM13099330300463
HP:0001257HP:0007199Progressive spastic paraparesis3PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11919449176640
HP:0001257HP:0007020Progressive spastic paraplegia3PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11919449176640
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11919449176640
HP:0001257HP:0012407Scissor gait3PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11919449176640
HP:0001257HP:0007199Progressive spastic paraparesis3PRPH CL E G H5630803ORPHA1769461170710
HP:0001257HP:0007020Progressive spastic paraplegia3PRPH CL E G H5630803ORPHA1769461170710
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3PRPH CL E G H5630803ORPHA1769461170710
HP:0001257HP:0012407Scissor gait3PRPH CL E G H5630803ORPHA1769461170710
HP:0001257HP:0007199Progressive spastic paraparesis3PUM1 CL E G H9698617931SPINOCEREBELLAR ATAXIA 47617931CN244564OMIM117514957607204
HP:0001257HP:0007020Progressive spastic paraplegia3PUM1 CL E G H9698617931SPINOCEREBELLAR ATAXIA 47617931CN244564OMIM117514957607204
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3PUM1 CL E G H9698617931SPINOCEREBELLAR ATAXIA 47617931CN244564OMIM117514957607204
HP:0001257HP:0012407Scissor gait3PUM1 CL E G H9698617931SPINOCEREBELLAR ATAXIA 47617931CN244564OMIM117514957607204
HP:0001257HP:0007199Progressive spastic paraparesis3PYCR2 CL E G H29920616420Leukodystrophy, hypomyelinating, 10616420C4225332OMIM114330262616406
HP:0001257HP:0007020Progressive spastic paraplegia3PYCR2 CL E G H29920616420Leukodystrophy, hypomyelinating, 10616420C4225332OMIM114330262616406
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3PYCR2 CL E G H29920616420Leukodystrophy, hypomyelinating, 10616420C4225332OMIM114330262616406
HP:0001257HP:0012407Scissor gait3PYCR2 CL E G H29920616420Leukodystrophy, hypomyelinating, 10616420C4225332OMIM114330262616406
HP:0001257HP:0007199Progressive spastic paraparesis3RAB11B CL E G H9230617807NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER617807C4540498OMIM11619761604198
HP:0001257HP:0007020Progressive spastic paraplegia3RAB11B CL E G H9230617807NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER617807C4540498OMIM11619761604198
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3RAB11B CL E G H9230617807NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER617807C4540498OMIM11619761604198
HP:0001257HP:0012407Scissor gait3RAB11B CL E G H9230617807NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER617807C4540498OMIM11619761604198
HP:0001257HP:0007199Progressive spastic paraparesis3RAB18 CL E G H229312510ORPHA119114244602207
HP:0001257HP:0007020Progressive spastic paraplegia3RAB18 CL E G H229312510ORPHA119114244602207
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3RAB18 CL E G H229312510ORPHA119114244602207
HP:0001257HP:0012407Scissor gait3RAB18 CL E G H229312510ORPHA119114244602207
HP:0001257HP:0007199Progressive spastic paraparesis3RAB27A CL E G H5873607624Griscelli syndrome type 2607624C1868679OMIM12989766603868
HP:0001257HP:0007020Progressive spastic paraplegia3RAB27A CL E G H5873607624Griscelli syndrome type 2607624C1868679OMIM12989766603868
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3RAB27A CL E G H5873607624Griscelli syndrome type 2607624C1868679OMIM12989766603868
HP:0001257HP:0012407Scissor gait3RAB27A CL E G H5873607624Griscelli syndrome type 2607624C1868679OMIM12989766603868
HP:0001257HP:0007199Progressive spastic paraparesis3RAB3GAP1 CL E G H229302510ORPHA145917063602536
HP:0001257HP:0007020Progressive spastic paraplegia3RAB3GAP1 CL E G H229302510ORPHA145917063602536
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3RAB3GAP1 CL E G H229302510ORPHA145917063602536
HP:0001257HP:0012407Scissor gait3RAB3GAP1 CL E G H229302510ORPHA145917063602536
HP:0001257HP:0007199Progressive spastic paraparesis3RAB3GAP2 CL E G H257822510ORPHA167117168609275
HP:0001257HP:0007020Progressive spastic paraplegia3RAB3GAP2 CL E G H257822510ORPHA167117168609275
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3RAB3GAP2 CL E G H257822510ORPHA167117168609275
HP:0001257HP:0012407Scissor gait3RAB3GAP2 CL E G H257822510ORPHA167117168609275
HP:0001257HP:0007199Progressive spastic paraparesis3RAD50 CL E G H10111613078Nijmegen breakage syndrome-like disorder613078C2751318OMIM140049816604040
HP:0001257HP:0007020Progressive spastic paraplegia3RAD50 CL E G H10111613078Nijmegen breakage syndrome-like disorder613078C2751318OMIM140049816604040
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3RAD50 CL E G H10111613078Nijmegen breakage syndrome-like disorder613078C2751318OMIM140049816604040
HP:0001257HP:0012407Scissor gait3RAD50 CL E G H10111613078Nijmegen breakage syndrome-like disorder613078C2751318OMIM140049816604040
HP:0001257HP:0007199Progressive spastic paraparesis3RARS CL E G H5917616140Leukodystrophy, hypomyelinating, 9616140C4015323OMIM19870107820
HP:0001257HP:0007020Progressive spastic paraplegia3RARS CL E G H5917616140Leukodystrophy, hypomyelinating, 9616140C4015323OMIM19870107820
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3RARS CL E G H5917616140Leukodystrophy, hypomyelinating, 9616140C4015323OMIM19870107820
HP:0001257HP:0012407Scissor gait3RARS CL E G H5917616140Leukodystrophy, hypomyelinating, 9616140C4015323OMIM19870107820
HP:0001257HP:0007199Progressive spastic paraparesis3REPS1 CL E G H85021617916NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7617916CN895590OMIM115615578614825
HP:0001257HP:0007020Progressive spastic paraplegia3REPS1 CL E G H85021617916NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7617916CN895590OMIM115615578614825
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3REPS1 CL E G H85021617916NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7617916CN895590OMIM115615578614825
HP:0001257HP:0012407Scissor gait3REPS1 CL E G H85021617916NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7617916CN895590OMIM115615578614825
HP:0001257HP:0007199Progressive spastic paraparesis3RETREG1 CL E G H54463613115Hereditary sensory and autonomic neuropathy type IIB613115C2751092OMIM152325964613114
HP:0001257HP:0007020Progressive spastic paraplegia3RETREG1 CL E G H54463613115Hereditary sensory and autonomic neuropathy type IIB613115C2751092OMIM152325964613114
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3RETREG1 CL E G H54463613115Hereditary sensory and autonomic neuropathy type IIB613115C2751092OMIM152325964613114
HP:0001257HP:0012407Scissor gait3RETREG1 CL E G H54463613115Hereditary sensory and autonomic neuropathy type IIB613115C2751092OMIM152325964613114
HP:0001257HP:0007199Progressive spastic paraparesis3RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0001257HP:0007020Progressive spastic paraplegia3RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0001257HP:0012407Scissor gait3RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0001257HP:0007199Progressive spastic paraparesis3RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM150530220611908
HP:0001257HP:0007020Progressive spastic paraplegia3RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM150530220611908
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM150530220611908
HP:0001257HP:0012407Scissor gait3RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM150530220611908
HP:0001257HP:0007199Progressive spastic paraparesis3RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM122313429300379
HP:0001257HP:0007020Progressive spastic paraplegia3RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM122313429300379
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM122313429300379
HP:0001257HP:0012407Scissor gait3RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM122313429300379
HP:0001257HP:0007199Progressive spastic paraparesis3RNASEH2A CL E G H10535610333Aicardi Goutieres syndrome 4610333C1835912OMIM140418518606034
HP:0001257HP:0007020Progressive spastic paraplegia3RNASEH2A CL E G H10535610333Aicardi Goutieres syndrome 4610333C1835912OMIM140418518606034
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3RNASEH2A CL E G H10535610333Aicardi Goutieres syndrome 4610333C1835912OMIM140418518606034
HP:0001257HP:0012407Scissor gait3RNASEH2A CL E G H10535610333Aicardi Goutieres syndrome 4610333C1835912OMIM140418518606034
HP:0001257HP:0007199Progressive spastic paraparesis3RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM130724116610330
HP:0001257HP:0007020Progressive spastic paraplegia3RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM130724116610330
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM130724116610330
HP:0001257HP:0012407Scissor gait3RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM130724116610330
HP:0001257HP:0007199Progressive spastic paraparesis3RNU4ATAC CL E G H1001516832636Hemihypertrophy intestinal web corneal opacityORPHA126134016601428
HP:0001257HP:0007020Progressive spastic paraplegia3RNU4ATAC CL E G H1001516832636Hemihypertrophy intestinal web corneal opacityORPHA126134016601428
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3RNU4ATAC CL E G H1001516832636Hemihypertrophy intestinal web corneal opacityORPHA126134016601428
HP:0001257HP:0012407Scissor gait3RNU4ATAC CL E G H1001516832636Hemihypertrophy intestinal web corneal opacityORPHA126134016601428
HP:0001257HP:0007199Progressive spastic paraparesis3ROGDI CL E G H796411946ORPHA156029478614574
HP:0001257HP:0007020Progressive spastic paraplegia3ROGDI CL E G H796411946ORPHA156029478614574
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3ROGDI CL E G H796411946ORPHA156029478614574
HP:0001257HP:0012407Scissor gait3ROGDI CL E G H796411946ORPHA156029478614574
HP:0001257HP:0007199Progressive spastic paraparesis3ROGDI CL E G H79641226750Kohlschutter's syndrome226750C0406740OMIM156029478614574
HP:0001257HP:0007020Progressive spastic paraplegia3ROGDI CL E G H79641226750Kohlschutter's syndrome226750C0406740OMIM156029478614574
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3ROGDI CL E G H79641226750Kohlschutter's syndrome226750C0406740OMIM156029478614574
HP:0001257HP:0012407Scissor gait3ROGDI CL E G H79641226750Kohlschutter's syndrome226750C0406740OMIM156029478614574
HP:0001257HP:0007199Progressive spastic paraparesis3RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM1149429168610937
HP:0001257HP:0007020Progressive spastic paraplegia3RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM1149429168610937
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM1149429168610937
HP:0001257HP:0012407Scissor gait3RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM1149429168610937
HP:0001257HP:0007199Progressive spastic paraparesis3RPIA CL E G H22934608611Deficiency of ribose-5-phosphate isomerase608611C1291609OMIM111210297180430
HP:0001257HP:0007020Progressive spastic paraplegia3RPIA CL E G H22934608611Deficiency of ribose-5-phosphate isomerase608611C1291609OMIM111210297180430
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3RPIA CL E G H22934608611Deficiency of ribose-5-phosphate isomerase608611C1291609OMIM111210297180430
HP:0001257HP:0012407Scissor gait3RPIA CL E G H22934608611Deficiency of ribose-5-phosphate isomerase608611C1291609OMIM111210297180430
HP:0001257HP:0007199Progressive spastic paraparesis3RUSC2 CL E G H9853617773MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61617773C4540424OMIM182423625611053
HP:0001257HP:0007020Progressive spastic paraplegia3RUSC2 CL E G H9853617773MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61617773C4540424OMIM182423625611053
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3RUSC2 CL E G H9853617773MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61617773C4540424OMIM182423625611053
HP:0001257HP:0012407Scissor gait3RUSC2 CL E G H9853617773MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61617773C4540424OMIM182423625611053
HP:0001257HP:0007199Progressive spastic paraparesis3SACS CL E G H26278270550Spastic ataxia Charlevoix-Saguenay type270550C1849140OMIM1337710519604490
HP:0001257HP:0007020Progressive spastic paraplegia3SACS CL E G H26278270550Spastic ataxia Charlevoix-Saguenay type270550C1849140OMIM1337710519604490
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3SACS CL E G H26278270550Spastic ataxia Charlevoix-Saguenay type270550C1849140OMIM1337710519604490
HP:0001257HP:0012407Scissor gait3SACS CL E G H26278270550Spastic ataxia Charlevoix-Saguenay type270550C1849140OMIM1337710519604490
HP:0001257HP:0007199Progressive spastic paraparesis3SAMHD1 CL E G H25939612952Aicardi Goutieres syndrome 5612952C2749659OMIM174615925606754
HP:0001257HP:0007020Progressive spastic paraplegia3SAMHD1 CL E G H25939612952Aicardi Goutieres syndrome 5612952C2749659OMIM174615925606754
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3SAMHD1 CL E G H25939612952Aicardi Goutieres syndrome 5612952C2749659OMIM174615925606754
HP:0001257HP:0012407Scissor gait3SAMHD1 CL E G H25939612952Aicardi Goutieres syndrome 5612952C2749659OMIM174615925606754
HP:0001257HP:0007199Progressive spastic paraparesis3SCN1B CL E G H6324617350Epileptic encephalopathy, early infantile, 52617350C4479236OMIM151110586600235
HP:0001257HP:0007020Progressive spastic paraplegia3SCN1B CL E G H6324617350Epileptic encephalopathy, early infantile, 52617350C4479236OMIM151110586600235
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3SCN1B CL E G H6324617350Epileptic encephalopathy, early infantile, 52617350C4479236OMIM151110586600235
HP:0001257HP:0012407Scissor gait3SCN1B CL E G H6324617350Epileptic encephalopathy, early infantile, 52617350C4479236OMIM151110586600235
HP:0001257HP:0007199Progressive spastic paraparesis3SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0001257HP:0007020Progressive spastic paraplegia3SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0001257HP:0012407Scissor gait3SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0001257HP:0007199Progressive spastic paraparesis3SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1250310680600857
HP:0001257HP:0007020Progressive spastic paraplegia3SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1250310680600857
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1250310680600857
HP:0001257HP:0012407Scissor gait3SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1250310680600857
HP:0001257HP:0007199Progressive spastic paraparesis3SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM17733867612848
HP:0001257HP:0007020Progressive spastic paraplegia3SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM17733867612848
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM17733867612848
HP:0001257HP:0012407Scissor gait3SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM17733867612848
HP:0001257HP:0007199Progressive spastic paraparesis3SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM168610683602690
HP:0001257HP:0007020Progressive spastic paraplegia3SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM168610683602690
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM168610683602690
HP:0001257HP:0012407Scissor gait3SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM168610683602690
HP:0001257HP:0007199Progressive spastic paraparesis3SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0001257HP:0007020Progressive spastic paraplegia3SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0001257HP:0012407Scissor gait3SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0001257HP:0007199Progressive spastic paraparesis3SIGMAR1 CL E G H10280614373Amyotrophic lateral sclerosis 16, juvenile614373C3280587OMIM12478157601978
HP:0001257HP:0007020Progressive spastic paraplegia3SIGMAR1 CL E G H10280614373Amyotrophic lateral sclerosis 16, juvenile614373C3280587OMIM12478157601978
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3SIGMAR1 CL E G H10280614373Amyotrophic lateral sclerosis 16, juvenile614373C3280587OMIM12478157601978
HP:0001257HP:0012407Scissor gait3SIGMAR1 CL E G H10280614373Amyotrophic lateral sclerosis 16, juvenile614373C3280587OMIM12478157601978
HP:0001257HP:0007199Progressive spastic paraparesis3SIGMAR1 CL E G H10280300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA12478157601978
HP:0001257HP:0007020Progressive spastic paraplegia3SIGMAR1 CL E G H10280300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA12478157601978
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3SIGMAR1 CL E G H10280300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA12478157601978
HP:0001257HP:0012407Scissor gait3SIGMAR1 CL E G H10280300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA12478157601978
HP:0001257HP:0007199Progressive spastic paraparesis3SIL1 CL E G H64374559ORPHA135224624608005
HP:0001257HP:0007020Progressive spastic paraplegia3SIL1 CL E G H64374559ORPHA135224624608005
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3SIL1 CL E G H64374559ORPHA135224624608005
HP:0001257HP:0012407Scissor gait3SIL1 CL E G H64374559ORPHA135224624608005
HP:0001257HP:0007199Progressive spastic paraparesis3SIL1 CL E G H64374248800Marinesco-Sjögren syndrome248800C0024814OMIM135224624608005
HP:0001257HP:0007020Progressive spastic paraplegia3SIL1 CL E G H64374248800Marinesco-Sjögren syndrome248800C0024814OMIM135224624608005
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3SIL1 CL E G H64374248800Marinesco-Sjögren syndrome248800C0024814OMIM135224624608005
HP:0001257HP:0012407Scissor gait3SIL1 CL E G H64374248800Marinesco-Sjögren syndrome248800C0024814OMIM135224624608005
HP:0001257HP:0007199Progressive spastic paraparesis3SLC13A5 CL E G H2841111946ORPHA168523089608305
HP:0001257HP:0007020Progressive spastic paraplegia3SLC13A5 CL E G H2841111946ORPHA168523089608305
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3SLC13A5 CL E G H2841111946ORPHA168523089608305
HP:0001257HP:0012407Scissor gait3SLC13A5 CL E G H2841111946ORPHA168523089608305
HP:0001257HP:0007199Progressive spastic paraparesis3SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0001257HP:0007020Progressive spastic paraplegia3SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0001257HP:0012407Scissor gait3SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0001257HP:0007199Progressive spastic paraparesis3SLC17A5 CL E G H26503604369Salla disease604369C1096903OMIM152010933604322
HP:0001257HP:0007020Progressive spastic paraplegia3SLC17A5 CL E G H26503604369Salla disease604369C1096903OMIM152010933604322
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3SLC17A5 CL E G H26503604369Salla disease604369C1096903OMIM152010933604322
HP:0001257HP:0012407Scissor gait3SLC17A5 CL E G H26503604369Salla disease604369C1096903OMIM152010933604322
HP:0001257HP:0007199Progressive spastic paraparesis3SLC25A12 CL E G H8604612949Hypomyelination, global cerebral612949C2751855OMIM145110982603667
HP:0001257HP:0007020Progressive spastic paraplegia3SLC25A12 CL E G H8604612949Hypomyelination, global cerebral612949C2751855OMIM145110982603667
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3SLC25A12 CL E G H8604612949Hypomyelination, global cerebral612949C2751855OMIM145110982603667
HP:0001257HP:0012407Scissor gait3SLC25A12 CL E G H8604612949Hypomyelination, global cerebral612949C2751855OMIM145110982603667
HP:0001257HP:0007199Progressive spastic paraparesis3SLC25A22 CL E G H79751609304Early myoclonic encephalopathy609304C0270855OMIM155119954609302
HP:0001257HP:0007020Progressive spastic paraplegia3SLC25A22 CL E G H79751609304Early myoclonic encephalopathy609304C0270855OMIM155119954609302
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3SLC25A22 CL E G H79751609304Early myoclonic encephalopathy609304C0270855OMIM155119954609302
HP:0001257HP:0012407Scissor gait3SLC25A22 CL E G H79751609304Early myoclonic encephalopathy609304C0270855OMIM155119954609302
HP:0001257HP:0007199Progressive spastic paraparesis3SLC2A1 CL E G H651371277ORPHA196511005138140
HP:0001257HP:0007020Progressive spastic paraplegia3SLC2A1 CL E G H651371277ORPHA196511005138140
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3SLC2A1 CL E G H651371277ORPHA196511005138140
HP:0001257HP:0012407Scissor gait3SLC2A1 CL E G H651371277ORPHA196511005138140
HP:0001257HP:0007199Progressive spastic paraparesis3SLC2A1 CL E G H6513606777GLUT1 deficiency syndrome 1606777CN030711OMIM196511005138140
HP:0001257HP:0007020Progressive spastic paraplegia3SLC2A1 CL E G H6513606777GLUT1 deficiency syndrome 1606777CN030711OMIM196511005138140
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3SLC2A1 CL E G H6513606777GLUT1 deficiency syndrome 1606777CN030711OMIM196511005138140
HP:0001257HP:0012407Scissor gait3SLC2A1 CL E G H6513606777GLUT1 deficiency syndrome 1606777CN030711OMIM196511005138140
HP:0001257HP:0007199Progressive spastic paraparesis3SLC2A1 CL E G H6513608885Stomatin-deficient cryohydrocytosis with neurologic defects608885C1837206OMIM196511005138140
HP:0001257HP:0007020Progressive spastic paraplegia3SLC2A1 CL E G H6513608885Stomatin-deficient cryohydrocytosis with neurologic defects608885C1837206OMIM196511005138140
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3SLC2A1 CL E G H6513608885Stomatin-deficient cryohydrocytosis with neurologic defects608885C1837206OMIM196511005138140
HP:0001257HP:0012407Scissor gait3SLC2A1 CL E G H6513608885Stomatin-deficient cryohydrocytosis with neurologic defects608885C1837206OMIM196511005138140
HP:0001257HP:0007199Progressive spastic paraparesis3SLC2A3 CL E G H651539946,XX testicular disorder of sex developmentC2936420ORPHA19011007138170
HP:0001257HP:0007020Progressive spastic paraplegia3SLC2A3 CL E G H651539946,XX testicular disorder of sex developmentC2936420ORPHA19011007138170
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3SLC2A3 CL E G H651539946,XX testicular disorder of sex developmentC2936420ORPHA19011007138170
HP:0001257HP:0012407Scissor gait3SLC2A3 CL E G H651539946,XX testicular disorder of sex developmentC2936420ORPHA19011007138170
HP:0001257HP:0007199Progressive spastic paraparesis3SLC39A14 CL E G H23516617013Hypermanganesemia with dystonia 2617013C4310765OMIM127020858608736
HP:0001257HP:0007020Progressive spastic paraplegia3SLC39A14 CL E G H23516617013Hypermanganesemia with dystonia 2617013C4310765OMIM127020858608736
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3SLC39A14 CL E G H23516617013Hypermanganesemia with dystonia 2617013C4310765OMIM127020858608736
HP:0001257HP:0012407Scissor gait3SLC39A14 CL E G H23516617013Hypermanganesemia with dystonia 2617013C4310765OMIM127020858608736
HP:0001257HP:0007199Progressive spastic paraparesis3SLC6A5 CL E G H91523197Lateral body wall defectORPHA171811051604159
HP:0001257HP:0007020Progressive spastic paraplegia3SLC6A5 CL E G H91523197Lateral body wall defectORPHA171811051604159
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3SLC6A5 CL E G H91523197Lateral body wall defectORPHA171811051604159
HP:0001257HP:0012407Scissor gait3SLC6A5 CL E G H91523197Lateral body wall defectORPHA171811051604159
HP:0001257HP:0007199Progressive spastic paraparesis3SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM1106211055300036
HP:0001257HP:0007020Progressive spastic paraplegia3SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM1106211055300036
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM1106211055300036
HP:0001257HP:0012407Scissor gait3SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM1106211055300036
HP:0001257HP:0007199Progressive spastic paraparesis3SMPD1 CL E G H6609257200Niemann-Pick disease, type A257200C0268242OMIM186411120607608
HP:0001257HP:0007020Progressive spastic paraplegia3SMPD1 CL E G H6609257200Niemann-Pick disease, type A257200C0268242OMIM186411120607608
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3SMPD1 CL E G H6609257200Niemann-Pick disease, type A257200C0268242OMIM186411120607608
HP:0001257HP:0012407Scissor gait3SMPD1 CL E G H6609257200Niemann-Pick disease, type A257200C0268242OMIM186411120607608
HP:0001257HP:0007199Progressive spastic paraparesis3SNCA CL E G H6622171695ORPHA119311138163890
HP:0001257HP:0007020Progressive spastic paraplegia3SNCA CL E G H6622171695ORPHA119311138163890
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3SNCA CL E G H6622171695ORPHA119311138163890
HP:0001257HP:0012407Scissor gait3SNCA CL E G H6622171695ORPHA119311138163890
HP:0001257HP:0007199Progressive spastic paraparesis3SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM118932952616663
HP:0001257HP:0007020Progressive spastic paraplegia3SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM118932952616663
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM118932952616663
HP:0001257HP:0012407Scissor gait3SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM118932952616663
HP:0001257HP:0007199Progressive spastic paraparesis3SNX14 CL E G H57231616354Spinocerebellar ataxia, autosomal recessive 20616354C4225355OMIM127014977616105
HP:0001257HP:0007020Progressive spastic paraplegia3SNX14 CL E G H57231616354Spinocerebellar ataxia, autosomal recessive 20616354C4225355OMIM127014977616105
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3SNX14 CL E G H57231616354Spinocerebellar ataxia, autosomal recessive 20616354C4225355OMIM127014977616105
HP:0001257HP:0012407Scissor gait3SNX14 CL E G H57231616354Spinocerebellar ataxia, autosomal recessive 20616354C4225355OMIM127014977616105
HP:0001257HP:0007199Progressive spastic paraparesis3SOD1 CL E G H6647803ORPHA129411179147450
HP:0001257HP:0007020Progressive spastic paraplegia3SOD1 CL E G H6647803ORPHA129411179147450
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3SOD1 CL E G H6647803ORPHA129411179147450
HP:0001257HP:0012407Scissor gait3SOD1 CL E G H6647803ORPHA129411179147450
HP:0001257HP:0007199Progressive spastic paraparesis3SOD1 CL E G H6647105400Amyotrophic lateral sclerosis type 1105400C1862939OMIM129411179147450
HP:0001257HP:0007020Progressive spastic paraplegia3SOD1 CL E G H6647105400Amyotrophic lateral sclerosis type 1105400C1862939OMIM129411179147450
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3SOD1 CL E G H6647105400Amyotrophic lateral sclerosis type 1105400C1862939OMIM129411179147450
HP:0001257HP:0012407Scissor gait3SOD1 CL E G H6647105400Amyotrophic lateral sclerosis type 1105400C1862939OMIM129411179147450
HP:0001257HP:0007199Progressive spastic paraparesis3SOX10 CL E G H6663163746ORPHA137811190602229
HP:0001257HP:0007020Progressive spastic paraplegia3SOX10 CL E G H6663163746ORPHA137811190602229
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3SOX10 CL E G H6663163746ORPHA137811190602229
HP:0001257HP:0012407Scissor gait3SOX10 CL E G H6663163746ORPHA137811190602229
HP:0001257HP:0007199Progressive spastic paraparesis3SPATA5 CL E G H166378616577Epilepsy, hearing loss, and mental retardation syndrome616577C4225276OMIM118119613940
HP:0001257HP:0007020Progressive spastic paraplegia3SPATA5 CL E G H166378616577Epilepsy, hearing loss, and mental retardation syndrome616577C4225276OMIM118119613940
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3SPATA5 CL E G H166378616577Epilepsy, hearing loss, and mental retardation syndrome616577C4225276OMIM118119613940
HP:0001257HP:0012407Scissor gait3SPATA5 CL E G H166378616577Epilepsy, hearing loss, and mental retardation syndrome616577C4225276OMIM118119613940
HP:0001257HP:0007199Progressive spastic paraparesis3SPG11 CL E G H80208602099Amyotrophic lateral sclerosis type 5602099C1865864OMIM1262511226610844
HP:0001257HP:0007020Progressive spastic paraplegia3SPG11 CL E G H80208602099Amyotrophic lateral sclerosis type 5602099C1865864OMIM1262511226610844
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3SPG11 CL E G H80208602099Amyotrophic lateral sclerosis type 5602099C1865864OMIM1262511226610844
HP:0001257HP:0012407Scissor gait3SPG11 CL E G H80208602099Amyotrophic lateral sclerosis type 5602099C1865864OMIM1262511226610844
HP:0001257HP:0007199Progressive spastic paraparesis3SPG11 CL E G H80208300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1262511226610844
HP:0001257HP:0007020Progressive spastic paraplegia3SPG11 CL E G H80208300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1262511226610844
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3SPG11 CL E G H80208300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1262511226610844
HP:0001257HP:0012407Scissor gait3SPG11 CL E G H80208300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1262511226610844
HP:0001257HP:0007199Progressive spastic paraparesis3SPG21 CL E G H51324101001ORPHA116220373608181
HP:0001257HP:0007020Progressive spastic paraplegia3SPG21 CL E G H51324101001ORPHA116220373608181
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3SPG21 CL E G H51324101001ORPHA116220373608181
HP:0001257HP:0012407Scissor gait3SPG21 CL E G H51324101001ORPHA116220373608181
HP:0001257HP:0007199Progressive spastic paraparesis3SPR CL E G H6697612716Sepiapterin reductase deficiency612716C0268468OMIM119811257182125
HP:0001257HP:0007020Progressive spastic paraplegia3SPR CL E G H6697612716Sepiapterin reductase deficiency612716C0268468OMIM119811257182125
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3SPR CL E G H6697612716Sepiapterin reductase deficiency612716C0268468OMIM119811257182125
HP:0001257HP:0012407Scissor gait3SPR CL E G H6697612716Sepiapterin reductase deficiency612716C0268468OMIM119811257182125
HP:0001257HP:0007199Progressive spastic paraparesis3SQSTM1 CL E G H8878803ORPHA167711280601530
HP:0001257HP:0007020Progressive spastic paraplegia3SQSTM1 CL E G H8878803ORPHA167711280601530
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3SQSTM1 CL E G H8878803ORPHA167711280601530
HP:0001257HP:0012407Scissor gait3SQSTM1 CL E G H8878803ORPHA167711280601530
HP:0001257HP:0007199Progressive spastic paraparesis3STN1 CL E G H79991617341Cerebroretinal microangiopathy with calcifications and cysts 2617341C4479220OMIM122526200613128
HP:0001257HP:0007020Progressive spastic paraplegia3STN1 CL E G H79991617341Cerebroretinal microangiopathy with calcifications and cysts 2617341C4479220OMIM122526200613128
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3STN1 CL E G H79991617341Cerebroretinal microangiopathy with calcifications and cysts 2617341C4479220OMIM122526200613128
HP:0001257HP:0012407Scissor gait3STN1 CL E G H79991617341Cerebroretinal microangiopathy with calcifications and cysts 2617341C4479220OMIM122526200613128
HP:0001257HP:0007199Progressive spastic paraparesis3STXBP1 CL E G H68123095ORPHA1101711444602926
HP:0001257HP:0007020Progressive spastic paraplegia3STXBP1 CL E G H68123095ORPHA1101711444602926
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3STXBP1 CL E G H68123095ORPHA1101711444602926
HP:0001257HP:0012407Scissor gait3STXBP1 CL E G H68123095ORPHA1101711444602926
HP:0001257HP:0007199Progressive spastic paraparesis3SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0001257HP:0007020Progressive spastic paraplegia3SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0001257HP:0012407Scissor gait3SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0001257HP:0007199Progressive spastic paraparesis3SUMF1 CL E G H285362272200Multiple sulfatase deficiency272200C0268263OMIM174620376607939
HP:0001257HP:0007020Progressive spastic paraplegia3SUMF1 CL E G H285362272200Multiple sulfatase deficiency272200C0268263OMIM174620376607939
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3SUMF1 CL E G H285362272200Multiple sulfatase deficiency272200C0268263OMIM174620376607939
HP:0001257HP:0012407Scissor gait3SUMF1 CL E G H285362272200Multiple sulfatase deficiency272200C0268263OMIM174620376607939
HP:0001257HP:0007199Progressive spastic paraparesis3SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0001257HP:0007020Progressive spastic paraplegia3SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0001257HP:0012407Scissor gait3SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0001257HP:0007199Progressive spastic paraparesis3SUZ12 CL E G H235123447ORPHA113917101606245
HP:0001257HP:0007020Progressive spastic paraplegia3SUZ12 CL E G H235123447ORPHA113917101606245
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3SUZ12 CL E G H235123447ORPHA113917101606245
HP:0001257HP:0012407Scissor gait3SUZ12 CL E G H235123447ORPHA113917101606245
HP:0001257HP:0007199Progressive spastic paraparesis3TAF15 CL E G H8148803ORPHA112511547601574
HP:0001257HP:0007020Progressive spastic paraplegia3TAF15 CL E G H8148803ORPHA112511547601574
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3TAF15 CL E G H8148803ORPHA112511547601574
HP:0001257HP:0012407Scissor gait3TAF15 CL E G H8148803ORPHA112511547601574
HP:0001257HP:0007199Progressive spastic paraparesis3TAF2 CL E G H6873615599Mental retardation, autosomal recessive 40615599C3810080OMIM127111536604912
HP:0001257HP:0007020Progressive spastic paraplegia3TAF2 CL E G H6873615599Mental retardation, autosomal recessive 40615599C3810080OMIM127111536604912
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3TAF2 CL E G H6873615599Mental retardation, autosomal recessive 40615599C3810080OMIM127111536604912
HP:0001257HP:0012407Scissor gait3TAF2 CL E G H6873615599Mental retardation, autosomal recessive 40615599C3810080OMIM127111536604912
HP:0001257HP:0007199Progressive spastic paraparesis3TARDBP CL E G H23435803ORPHA130911571605078
HP:0001257HP:0007020Progressive spastic paraplegia3TARDBP CL E G H23435803ORPHA130911571605078
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3TARDBP CL E G H23435803ORPHA130911571605078
HP:0001257HP:0012407Scissor gait3TARDBP CL E G H23435803ORPHA130911571605078
HP:0001257HP:0007199Progressive spastic paraparesis3TARDBP CL E G H23435612069Amyotrophic lateral sclerosis type 10612069C2677565OMIM130911571605078
HP:0001257HP:0007020Progressive spastic paraplegia3TARDBP CL E G H23435612069Amyotrophic lateral sclerosis type 10612069C2677565OMIM130911571605078
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3TARDBP CL E G H23435612069Amyotrophic lateral sclerosis type 10612069C2677565OMIM130911571605078
HP:0001257HP:0012407Scissor gait3TARDBP CL E G H23435612069Amyotrophic lateral sclerosis type 10612069C2677565OMIM130911571605078
HP:0001257HP:0007199Progressive spastic paraparesis3TBC1D20 CL E G H1286372510ORPHA119516133611663
HP:0001257HP:0007020Progressive spastic paraplegia3TBC1D20 CL E G H1286372510ORPHA119516133611663
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3TBC1D20 CL E G H1286372510ORPHA119516133611663
HP:0001257HP:0012407Scissor gait3TBC1D20 CL E G H1286372510ORPHA119516133611663
HP:0001257HP:0007199Progressive spastic paraparesis3TBK1 CL E G H29110803ORPHA138211584604834
HP:0001257HP:0007020Progressive spastic paraplegia3TBK1 CL E G H29110803ORPHA138211584604834
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3TBK1 CL E G H29110803ORPHA138211584604834
HP:0001257HP:0012407Scissor gait3TBK1 CL E G H29110803ORPHA138211584604834
HP:0001257HP:0007199Progressive spastic paraparesis3TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0001257HP:0007020Progressive spastic paraplegia3TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0001257HP:0012407Scissor gait3TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0001257HP:0007199Progressive spastic paraparesis3TBP CL E G H690898759ORPHA113111588600075
HP:0001257HP:0007020Progressive spastic paraplegia3TBP CL E G H690898759ORPHA113111588600075
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3TBP CL E G H690898759ORPHA113111588600075
HP:0001257HP:0012407Scissor gait3TBP CL E G H690898759ORPHA113111588600075
HP:0001257HP:0007199Progressive spastic paraparesis3TCTN2 CL E G H79867616654Joubert syndrome 24616654C4084841OMIM162225774613846
HP:0001257HP:0007020Progressive spastic paraplegia3TCTN2 CL E G H79867616654Joubert syndrome 24616654C4084841OMIM162225774613846
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3TCTN2 CL E G H79867616654Joubert syndrome 24616654C4084841OMIM162225774613846
HP:0001257HP:0012407Scissor gait3TCTN2 CL E G H79867616654Joubert syndrome 24616654C4084841OMIM162225774613846
HP:0001257HP:0007199Progressive spastic paraparesis3TELO2 CL E G H9894616954You-Hoover-Fong syndrome616954C4310778OMIM140529099611140
HP:0001257HP:0007020Progressive spastic paraplegia3TELO2 CL E G H9894616954You-Hoover-Fong syndrome616954C4310778OMIM140529099611140
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3TELO2 CL E G H9894616954You-Hoover-Fong syndrome616954C4310778OMIM140529099611140
HP:0001257HP:0012407Scissor gait3TELO2 CL E G H9894616954You-Hoover-Fong syndrome616954C4310778OMIM140529099611140
HP:0001257HP:0007199Progressive spastic paraparesis3TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0001257HP:0007020Progressive spastic paraplegia3TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0001257HP:0012407Scissor gait3TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0001257HP:0007199Progressive spastic paraparesis3TMEM231 CL E G H795832752ORPHA146337234614949
HP:0001257HP:0007020Progressive spastic paraplegia3TMEM231 CL E G H795832752ORPHA146337234614949
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3TMEM231 CL E G H795832752ORPHA146337234614949
HP:0001257HP:0012407Scissor gait3TMEM231 CL E G H795832752ORPHA146337234614949
HP:0001257HP:0007199Progressive spastic paraparesis3TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM192828396609884
HP:0001257HP:0007020Progressive spastic paraplegia3TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM192828396609884
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM192828396609884
HP:0001257HP:0012407Scissor gait3TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM192828396609884
HP:0001257HP:0007199Progressive spastic paraparesis3TMTC3 CL E G H160418617255Lissencephaly 8617255C4310646OMIM119226899617218
HP:0001257HP:0007020Progressive spastic paraplegia3TMTC3 CL E G H160418617255Lissencephaly 8617255C4310646OMIM119226899617218
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3TMTC3 CL E G H160418617255Lissencephaly 8617255C4310646OMIM119226899617218
HP:0001257HP:0012407Scissor gait3TMTC3 CL E G H160418617255Lissencephaly 8617255C4310646OMIM119226899617218
HP:0001257HP:0007199Progressive spastic paraparesis3TP53RK CL E G H112858617730GALLOWAY-MOWAT SYNDROME 4617730C4540270OMIM17016197608679
HP:0001257HP:0007020Progressive spastic paraplegia3TP53RK CL E G H112858617730GALLOWAY-MOWAT SYNDROME 4617730C4540270OMIM17016197608679
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3TP53RK CL E G H112858617730GALLOWAY-MOWAT SYNDROME 4617730C4540270OMIM17016197608679
HP:0001257HP:0012407Scissor gait3TP53RK CL E G H112858617730GALLOWAY-MOWAT SYNDROME 4617730C4540270OMIM17016197608679
HP:0001257HP:0007199Progressive spastic paraparesis3TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM118112009190450
HP:0001257HP:0007020Progressive spastic paraplegia3TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM118112009190450
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM118112009190450
HP:0001257HP:0012407Scissor gait3TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM118112009190450
HP:0001257HP:0007199Progressive spastic paraparesis3TPK1 CL E G H27010614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)614458C3280866OMIM131817358606370
HP:0001257HP:0007020Progressive spastic paraplegia3TPK1 CL E G H27010614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)614458C3280866OMIM131817358606370
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3TPK1 CL E G H27010614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)614458C3280866OMIM131817358606370
HP:0001257HP:0012407Scissor gait3TPK1 CL E G H27010614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)614458C3280866OMIM131817358606370
HP:0001257HP:0007199Progressive spastic paraparesis3TPRKB CL E G H51002617731GALLOWAY-MOWAT SYNDROME 5617731C4540274OMIM14624259608680
HP:0001257HP:0007020Progressive spastic paraplegia3TPRKB CL E G H51002617731GALLOWAY-MOWAT SYNDROME 5617731C4540274OMIM14624259608680
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3TPRKB CL E G H51002617731GALLOWAY-MOWAT SYNDROME 5617731C4540274OMIM14624259608680
HP:0001257HP:0012407Scissor gait3TPRKB CL E G H51002617731GALLOWAY-MOWAT SYNDROME 5617731C4540274OMIM14624259608680
HP:0001257HP:0007199Progressive spastic paraparesis3TRAK1 CL E G H22906618201EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68618201OMIM120829947608112
HP:0001257HP:0007020Progressive spastic paraplegia3TRAK1 CL E G H22906618201EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68618201OMIM120829947608112
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3TRAK1 CL E G H22906618201EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68618201OMIM120829947608112
HP:0001257HP:0012407Scissor gait3TRAK1 CL E G H22906618201EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68618201OMIM120829947608112
HP:0001257HP:0007199Progressive spastic paraparesis3TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM120224284614139
HP:0001257HP:0007020Progressive spastic paraplegia3TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM120224284614139
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM120224284614139
HP:0001257HP:0012407Scissor gait3TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM120224284614139
HP:0001257HP:0007199Progressive spastic paraparesis3TREM2 CL E G H54209803ORPHA115417761605086
HP:0001257HP:0007020Progressive spastic paraplegia3TREM2 CL E G H54209803ORPHA115417761605086
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3TREM2 CL E G H54209803ORPHA115417761605086
HP:0001257HP:0012407Scissor gait3TREM2 CL E G H54209803ORPHA115417761605086
HP:0001257HP:0007199Progressive spastic paraparesis3TREM2 CL E G H542092770ORPHA115417761605086
HP:0001257HP:0007020Progressive spastic paraplegia3TREM2 CL E G H542092770ORPHA115417761605086
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3TREM2 CL E G H542092770ORPHA115417761605086
HP:0001257HP:0012407Scissor gait3TREM2 CL E G H542092770ORPHA115417761605086
HP:0001257HP:0007199Progressive spastic paraparesis3TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM141812269606609
HP:0001257HP:0007020Progressive spastic paraplegia3TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM141812269606609
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM141812269606609
HP:0001257HP:0012407Scissor gait3TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM141812269606609
HP:0001257HP:0007199Progressive spastic paraparesis3TRIT1 CL E G H54802617873COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35617873CN807948OMIM111320286617840
HP:0001257HP:0007020Progressive spastic paraplegia3TRIT1 CL E G H54802617873COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35617873CN807948OMIM111320286617840
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3TRIT1 CL E G H54802617873COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35617873CN807948OMIM111320286617840
HP:0001257HP:0012407Scissor gait3TRIT1 CL E G H54802617873COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35617873CN807948OMIM111320286617840
HP:0001257HP:0007199Progressive spastic paraparesis3TRMT5 CL E G H57570616539Combined oxidative phosphorylation deficiency 26616539C4225290OMIM122023141611023
HP:0001257HP:0007020Progressive spastic paraplegia3TRMT5 CL E G H57570616539Combined oxidative phosphorylation deficiency 26616539C4225290OMIM122023141611023
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3TRMT5 CL E G H57570616539Combined oxidative phosphorylation deficiency 26616539C4225290OMIM122023141611023
HP:0001257HP:0012407Scissor gait3TRMT5 CL E G H57570616539Combined oxidative phosphorylation deficiency 26616539C4225290OMIM122023141611023
HP:0001257HP:0007199Progressive spastic paraparesis3TSEN54 CL E G H283989225753Pontocerebellar hypoplasia type 4225753C1856974OMIM141427561608755
HP:0001257HP:0007020Progressive spastic paraplegia3TSEN54 CL E G H283989225753Pontocerebellar hypoplasia type 4225753C1856974OMIM141427561608755
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3TSEN54 CL E G H283989225753Pontocerebellar hypoplasia type 4225753C1856974OMIM141427561608755
HP:0001257HP:0012407Scissor gait3TSEN54 CL E G H283989225753Pontocerebellar hypoplasia type 4225753C1856974OMIM141427561608755
HP:0001257HP:0007199Progressive spastic paraparesis3TTR CL E G H7276105210Amyloidogenic transthyretin amyloidosis105210C2751492OMIM137712405176300
HP:0001257HP:0007020Progressive spastic paraplegia3TTR CL E G H7276105210Amyloidogenic transthyretin amyloidosis105210C2751492OMIM137712405176300
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3TTR CL E G H7276105210Amyloidogenic transthyretin amyloidosis105210C2751492OMIM137712405176300
HP:0001257HP:0012407Scissor gait3TTR CL E G H7276105210Amyloidogenic transthyretin amyloidosis105210C2751492OMIM137712405176300
HP:0001257HP:0007199Progressive spastic paraparesis3TUBB3 CL E G H10381614039Cortical dysplasia, complex, with other brain malformations 1614039C3808397OMIM132020772602661
HP:0001257HP:0007020Progressive spastic paraplegia3TUBB3 CL E G H10381614039Cortical dysplasia, complex, with other brain malformations 1614039C3808397OMIM132020772602661
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3TUBB3 CL E G H10381614039Cortical dysplasia, complex, with other brain malformations 1614039C3808397OMIM132020772602661
HP:0001257HP:0012407Scissor gait3TUBB3 CL E G H10381614039Cortical dysplasia, complex, with other brain malformations 1614039C3808397OMIM132020772602661
HP:0001257HP:0007199Progressive spastic paraparesis3TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM127220774602662
HP:0001257HP:0007020Progressive spastic paraplegia3TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM127220774602662
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM127220774602662
HP:0001257HP:0012407Scissor gait3TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM127220774602662
HP:0001257HP:0007199Progressive spastic paraparesis3TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM17617772609063
HP:0001257HP:0007020Progressive spastic paraplegia3TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM17617772609063
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM17617772609063
HP:0001257HP:0012407Scissor gait3TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM17617772609063
HP:0001257HP:0007199Progressive spastic paraparesis3TYROBP CL E G H73052770ORPHA111012449604142
HP:0001257HP:0007020Progressive spastic paraplegia3TYROBP CL E G H73052770ORPHA111012449604142
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3TYROBP CL E G H73052770ORPHA111012449604142
HP:0001257HP:0012407Scissor gait3TYROBP CL E G H73052770ORPHA111012449604142
HP:0001257HP:0007199Progressive spastic paraparesis3TYROBP CL E G H7305221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy221770C1857316OMIM111012449604142
HP:0001257HP:0007020Progressive spastic paraplegia3TYROBP CL E G H7305221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy221770C1857316OMIM111012449604142
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3TYROBP CL E G H7305221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy221770C1857316OMIM111012449604142
HP:0001257HP:0012407Scissor gait3TYROBP CL E G H7305221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy221770C1857316OMIM111012449604142
HP:0001257HP:0007199Progressive spastic paraparesis3UBA5 CL E G H79876617132Epileptic encephalopathy, early infantile, 44617132C4310700OMIM122323230610552
HP:0001257HP:0007020Progressive spastic paraplegia3UBA5 CL E G H79876617132Epileptic encephalopathy, early infantile, 44617132C4310700OMIM122323230610552
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3UBA5 CL E G H79876617132Epileptic encephalopathy, early infantile, 44617132C4310700OMIM122323230610552
HP:0001257HP:0012407Scissor gait3UBA5 CL E G H79876617132Epileptic encephalopathy, early infantile, 44617132C4310700OMIM122323230610552
HP:0001257HP:0007199Progressive spastic paraparesis3UBQLN2 CL E G H29978803ORPHA127312509300264
HP:0001257HP:0007020Progressive spastic paraplegia3UBQLN2 CL E G H29978803ORPHA127312509300264
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3UBQLN2 CL E G H29978803ORPHA127312509300264
HP:0001257HP:0012407Scissor gait3UBQLN2 CL E G H29978803ORPHA127312509300264
HP:0001257HP:0007199Progressive spastic paraparesis3UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM18412511600673
HP:0001257HP:0007020Progressive spastic paraplegia3UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM18412511600673
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM18412511600673
HP:0001257HP:0012407Scissor gait3UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM18412511600673
HP:0001257HP:0007199Progressive spastic paraparesis3UFC1 CL E G H51506618076NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH618076CN252685OMIM13326941610554
HP:0001257HP:0007020Progressive spastic paraplegia3UFC1 CL E G H51506618076NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH618076CN252685OMIM13326941610554
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3UFC1 CL E G H51506618076NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH618076CN252685OMIM13326941610554
HP:0001257HP:0012407Scissor gait3UFC1 CL E G H51506618076NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH618076CN252685OMIM13326941610554
HP:0001257HP:0007199Progressive spastic paraparesis3UFM1 CL E G H51569617899LEUKODYSTROPHY, HYPOMYELINATING, 14617899CN845004OMIM17720597610553
HP:0001257HP:0007020Progressive spastic paraplegia3UFM1 CL E G H51569617899LEUKODYSTROPHY, HYPOMYELINATING, 14617899CN845004OMIM17720597610553
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3UFM1 CL E G H51569617899LEUKODYSTROPHY, HYPOMYELINATING, 14617899CN845004OMIM17720597610553
HP:0001257HP:0012407Scissor gait3UFM1 CL E G H51569617899LEUKODYSTROPHY, HYPOMYELINATING, 14617899CN845004OMIM17720597610553
HP:0001257HP:0007199Progressive spastic paraparesis3UNC13A CL E G H23025803ORPHA114023150609894
HP:0001257HP:0007020Progressive spastic paraplegia3UNC13A CL E G H23025803ORPHA114023150609894
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3UNC13A CL E G H23025803ORPHA114023150609894
HP:0001257HP:0012407Scissor gait3UNC13A CL E G H23025803ORPHA114023150609894
HP:0001257HP:0007199Progressive spastic paraparesis3UNC80 CL E G H285175616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 2616801C4225203OMIM1181626582612636
HP:0001257HP:0007020Progressive spastic paraplegia3UNC80 CL E G H285175616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 2616801C4225203OMIM1181626582612636
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3UNC80 CL E G H285175616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 2616801C4225203OMIM1181626582612636
HP:0001257HP:0012407Scissor gait3UNC80 CL E G H285175616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 2616801C4225203OMIM1181626582612636
HP:0001257HP:0007199Progressive spastic paraparesis3VAPB CL E G H9217803ORPHA135912649605704
HP:0001257HP:0007020Progressive spastic paraplegia3VAPB CL E G H9217803ORPHA135912649605704
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3VAPB CL E G H9217803ORPHA135912649605704
HP:0001257HP:0012407Scissor gait3VAPB CL E G H9217803ORPHA135912649605704
HP:0001257HP:0007199Progressive spastic paraparesis3VCP CL E G H7415803ORPHA160712666601023
HP:0001257HP:0007020Progressive spastic paraplegia3VCP CL E G H7415803ORPHA160712666601023
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3VCP CL E G H7415803ORPHA160712666601023
HP:0001257HP:0012407Scissor gait3VCP CL E G H7415803ORPHA160712666601023
HP:0001257HP:0007199Progressive spastic paraparesis3VPS11 CL E G H55823466934ORPHA122814583608549
HP:0001257HP:0007020Progressive spastic paraplegia3VPS11 CL E G H55823466934ORPHA122814583608549
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3VPS11 CL E G H55823466934ORPHA122814583608549
HP:0001257HP:0012407Scissor gait3VPS11 CL E G H55823466934ORPHA122814583608549
HP:0001257HP:0007199Progressive spastic paraparesis3VPS11 CL E G H55823616683Leukodystrophy, hypomyelinating, 12616683C4225247OMIM122814583608549
HP:0001257HP:0007020Progressive spastic paraplegia3VPS11 CL E G H55823616683Leukodystrophy, hypomyelinating, 12616683C4225247OMIM122814583608549
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3VPS11 CL E G H55823616683Leukodystrophy, hypomyelinating, 12616683C4225247OMIM122814583608549
HP:0001257HP:0012407Scissor gait3VPS11 CL E G H55823616683Leukodystrophy, hypomyelinating, 12616683C4225247OMIM122814583608549
HP:0001257HP:0007199Progressive spastic paraparesis3VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0001257HP:0007020Progressive spastic paraplegia3VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0001257HP:0012407Scissor gait3VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0001257HP:0007199Progressive spastic paraparesis3WDR73 CL E G H8494283472ORPHA122025928616144
HP:0001257HP:0007020Progressive spastic paraplegia3WDR73 CL E G H8494283472ORPHA122025928616144
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3WDR73 CL E G H8494283472ORPHA122025928616144
HP:0001257HP:0012407Scissor gait3WDR73 CL E G H8494283472ORPHA122025928616144
HP:0001257HP:0007199Progressive spastic paraparesis3WWOX CL E G H51741616211Epileptic encephalopathy, early infantile, 28616211C4015519OMIM1110212799605131
HP:0001257HP:0007020Progressive spastic paraplegia3WWOX CL E G H51741616211Epileptic encephalopathy, early infantile, 28616211C4015519OMIM1110212799605131
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3WWOX CL E G H51741616211Epileptic encephalopathy, early infantile, 28616211C4015519OMIM1110212799605131
HP:0001257HP:0012407Scissor gait3WWOX CL E G H51741616211Epileptic encephalopathy, early infantile, 28616211C4015519OMIM1110212799605131
HP:0001257HP:0007199Progressive spastic paraparesis3XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM132112814611153
HP:0001257HP:0007020Progressive spastic paraplegia3XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM132112814611153
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM132112814611153
HP:0001257HP:0012407Scissor gait3XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM132112814611153
HP:0001257HP:0007199Progressive spastic paraparesis3ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM127924931300897
HP:0001257HP:0007020Progressive spastic paraplegia3ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM127924931300897
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM127924931300897
HP:0001257HP:0012407Scissor gait3ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM127924931300897
HP:0001257HP:0007199Progressive spastic paraparesis3ZNF335 CL E G H63925615095Primary autosomal recessive microcephaly 10615095C3554499OMIM150715807610827
HP:0001257HP:0007020Progressive spastic paraplegia3ZNF335 CL E G H63925615095Primary autosomal recessive microcephaly 10615095C3554499OMIM150715807610827
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3ZNF335 CL E G H63925615095Primary autosomal recessive microcephaly 10615095C3554499OMIM150715807610827
HP:0001257HP:0012407Scissor gait3ZNF335 CL E G H63925615095Primary autosomal recessive microcephaly 10615095C3554499OMIM150715807610827
HP:0001257HP:0007199Progressive spastic paraparesis3ZNF592 CL E G H964083472ORPHA112828986613624
HP:0001257HP:0007020Progressive spastic paraplegia3ZNF592 CL E G H964083472ORPHA112828986613624
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3ZNF592 CL E G H964083472ORPHA112828986613624
HP:0001257HP:0012407Scissor gait3ZNF592 CL E G H964083472ORPHA112828986613624
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001257HP:0001257Spasticity0AARS CL E G H16442835ORPHA020601065
HP:0001257HP:0001257Spasticity0ADAT3 CL E G H113179615286Mental retardation, autosomal recessive 36615286C3809039OMIM012725151615302
HP:0001257HP:0001257Spasticity0AFG3L2 CL E G H10939101109ORPHA0480315604581
HP:0001257HP:0001257Spasticity0AGTPBP1 CL E G H23287618276618276618276OMIM010517258606830
HP:0001257HP:0001257Spasticity0AP3B2 CL E G H8120442835ORPHA0690567602166
HP:0001257HP:0001257Spasticity0ARSA CL E G H410309256ORPHA01140713607574
HP:0001257HP:0001257Spasticity0ARSA CL E G H410309263ORPHA01140713607574
HP:0001257HP:0001257Spasticity0ARV1 CL E G H64801442835ORPHA08929561611647
HP:0001257HP:0001257Spasticity0ARX CL E G H170302452ORPHA081018060300382
HP:0001257HP:0001257Spasticity0ATP6AP2 CL E G H10159300911Parkinsonism with spasticity, X-linked300911C3806722OMIM034018305300556
HP:0001257HP:0001257Spasticity0ATP6V1A CL E G H523442835ORPHA0229851607027
HP:0001257HP:0001257Spasticity0ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM0657106607047
HP:0001257HP:0001257Spasticity0BEAN1 CL E G H146227217012ORPHA05624160612051
HP:0001257HP:0001257Spasticity0BICD2 CL E G H23299615290Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant615290C3809049OMIM074017208609797
HP:0001257HP:0001257Spasticity0CACNA1A CL E G H773442835ORPHA032481388601011
HP:0001257HP:0001257Spasticity0CASK CL E G H8573163937ORPHA08441497300172
HP:0001257HP:0001257Spasticity0CLIC2 CL E G H1193300886Mental retardation, X-linked, syndromic 32300886C3550913OMIM02702063300138
HP:0001257HP:0001257Spasticity0CLTC CL E G H1213442835ORPHA06452092118955
HP:0001257HP:0001257Spasticity0CNKSR2 CL E G H22866442835ORPHA030619701300724
HP:0001257HP:0001257Spasticity0CYFIP2 CL E G H26999442835ORPHA066813760606323
HP:0001257HP:0001257Spasticity0DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01422718600811
HP:0001257HP:0001257Spasticity0DDX3X CL E G H1654300958Mental retardation, X-linked 102300958C4085582OMIM07452745300160
HP:0001257HP:0001257Spasticity0DHDDS CL E G H79947442835ORPHA043420603608172
HP:0001257HP:0001257Spasticity0DNM1 CL E G H1759442835ORPHA07652972602377
HP:0001257HP:0001257Spasticity0DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0001257HP:0001257Spasticity0EEF1A2 CL E G H1917442835ORPHA05753192602959
HP:0001257HP:0001257Spasticity0EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM02083267300161
HP:0001257HP:0001257Spasticity0ELOVL4 CL E G H6785133190Erythrokeratodermia with ataxia133190C1851481OMIM029714415605512
HP:0001257HP:0001257Spasticity0ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA015723434126340
HP:0001257HP:0001257Spasticity0ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA05233435133510
HP:0001257HP:0001257Spasticity0ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA07263436133520
HP:0001257HP:0001257Spasticity0ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA04913437133530
HP:0001257HP:0001257Spasticity0ERCC5 CL E G H2073278780Xeroderma pigmentosum, group G278780C0268141OMIM04913437133530
HP:0001257HP:0001257Spasticity0ERLIN1 CL E G H10613615681Spastic paraplegia 62, autosomal recessive615681C4284588OMIM013616947611604
HP:0001257HP:0001257Spasticity0FGF12 CL E G H2257442835ORPHA02593668601513
HP:0001257HP:0001257Spasticity0FXN CL E G H239595ORPHA01583951606829
HP:0001257HP:0001257Spasticity0GABRB2 CL E G H2561442835ORPHA04944082600232
HP:0001257HP:0001257Spasticity0GRIN2D CL E G H2906442835ORPHA08234588602717
HP:0001257HP:0001257Spasticity0GRM1 CL E G H2911617691SPINOCEREBELLAR ATAXIA 44617691C4521563OMIM02984593604473
HP:0001257HP:0001257Spasticity0HCN1 CL E G H348980442835ORPHA07964845602780
HP:0001257HP:0001257Spasticity0IARS CL E G H3376617093Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy617093C4310720OMIM05330600709
HP:0001257HP:0001257Spasticity0IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA03875961300248
HP:0001257HP:0001257Spasticity0KATNB1 CL E G H10300616212Lissencephaly 6, with microcephaly616212C4015525OMIM03146217602703
HP:0001257HP:0001257Spasticity0KCNA2 CL E G H3737442835ORPHA04016220176262
HP:0001257HP:0001257Spasticity0KCNB1 CL E G H3745442835ORPHA06356231600397
HP:0001257HP:0001257Spasticity0KIF11 CL E G H38322526ORPHA07696388148760
HP:0001257HP:0001257Spasticity0KIF1A CL E G H547614255Mental retardation, autosomal dominant 9614255C3280283OMIM02622888601255
HP:0001257HP:0001257Spasticity0KMT2B CL E G H9757617284Dystonia 28, childhood-onset617284C4310633OMIM0130315840606834
HP:0001257HP:0001257Spasticity0LINGO1 CL E G H84894618103MENTAL RETARDATION, AUTOSOMAL RECESSIVE 64618103CN253431OMIM07821205609791
HP:0001257HP:0001257Spasticity0MCCC1 CL E G H569226Intellectual disability (mild)CN240508ORPHA07206936609010
HP:0001257HP:0001257Spasticity0MCCC2 CL E G H640876Intellectual disability (mild)CN240508ORPHA06446937609014
HP:0001257HP:0001257Spasticity0MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM015119691608205
HP:0001257HP:0001257Spasticity0MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM0122216877608507
HP:0001257HP:0001257Spasticity0MTO1 CL E G H25821614702Combined oxidative phosphorylation deficiency 10614702C3553529OMIM063819261614667
HP:0001257HP:0001257Spasticity0MYO5A CL E G H464433445ORPHA03377602160777
HP:0001257HP:0001257Spasticity0NECAP1 CL E G H25977442835ORPHA022124539611623
HP:0001257HP:0001257Spasticity0NEFL CL E G H4747617882CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G617882CN847583OMIM06147739162280
HP:0001257HP:0001257Spasticity0NTRK2 CL E G H4915442835ORPHA05098032600456
HP:0001257HP:0001257Spasticity0NUS1 CL E G H116150442835ORPHA032621042610463
HP:0001257HP:0001257Spasticity0OPA1 CL E G H4976125250Autosomal dominant optic atrophy plus syndrome125250C1852267OMIM012248140605290
HP:0001257HP:0001257Spasticity0PGAP1 CL E G H80055615802Mental retardation, autosomal recessive 42615802C4014343OMIM037925712611655
HP:0001257HP:0001257Spasticity0PNPLA6 CL E G H10908215470Boucher Neuhauser syndrome215470C1859093OMIM0121616268603197
HP:0001257HP:0001257Spasticity0POLR1C CL E G H9533616494Leukodystrophy, hypomyelinating, 11616494C4225305OMIM0194420194610060
HP:0001257HP:0001257Spasticity0PPP3CA CL E G H5530442835ORPHA03519314114105
HP:0001257HP:0001257Spasticity0PPP3CA CL E G H5530617711EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1617711C4540199OMIM03519314114105
HP:0001257HP:0001257Spasticity0PSAP CL E G H5660309256ORPHA07729498176801
HP:0001257HP:0001257Spasticity0PSAP CL E G H5660309263ORPHA07729498176801
HP:0001257HP:0001257Spasticity0RNASET2 CL E G H8635612951Leukoencephalopathy, cystic, without megalencephaly612951C2751843OMIM019921686612944
HP:0001257HP:0001257Spasticity0RTTN CL E G H25914614833Microcephaly, short stature, and polymicrogyria with or without seizures614833C3553831OMIM0120618654610436
HP:0001257HP:0001257Spasticity0SCN3A CL E G H6328442835ORPHA0142010590182391
HP:0001257HP:0001257Spasticity0SCN8A CL E G H6334442835ORPHA0179910596600702
HP:0001257HP:0001257Spasticity0SCYL1 CL E G H57410466794ORPHA012814372607982
HP:0001257HP:0001257Spasticity0SCYL1 CL E G H57410616719Spinocerebellar ataxia, autosomal recessive 21616719C4225236OMIM012814372607982
HP:0001257HP:0001257Spasticity0SETBP1 CL E G H26040798ORPHA0119015573611060
HP:0001257HP:0001257Spasticity0SLC13A5 CL E G H284111442835ORPHA068523089608305
HP:0001257HP:0001257Spasticity0SLC1A2 CL E G H6506442835ORPHA035910940600300
HP:0001257HP:0001257Spasticity0SLC1A2 CL E G H6506617105Epileptic encephalopathy, early infantile, 41617105C4310717OMIM035910940600300
HP:0001257HP:0001257Spasticity0SON CL E G H6651500150ORPHA0103111183182465
HP:0001257HP:0001257Spasticity0SPTBN2 CL E G H6712352403ORPHA093811276604985
HP:0001257HP:0001257Spasticity0SPTBN2 CL E G H6712615386Spinocerebellar ataxia, autosomal recessive 14615386C3809327OMIM093811276604985
HP:0001257HP:0001257Spasticity0STUB1 CL E G H10273615768Spinocerebellar ataxia, autosomal recessive 16615768C4014261OMIM022611427607207
HP:0001257HP:0001257Spasticity0STXBP1 CL E G H6812442835ORPHA0101711444602926
HP:0001257HP:0001257Spasticity0SYNGAP1 CL E G H8831442835ORPHA0133511497603384
HP:0001257HP:0001257Spasticity0SYNJ1 CL E G H8867442835ORPHA0131511503604297
HP:0001257HP:0001257Spasticity0SZT2 CL E G H23334442835ORPHA0286229040615463
HP:0001257HP:0001257Spasticity0TBC1D23 CL E G H55773617695PONTOCEREBELLAR HYPOPLASIA, TYPE 11617695C4540164OMIM09025622617687
HP:0001257HP:0001257Spasticity0TIMM50 CL E G H926096176983-METHYLGLUTACONIC ACIDURIA, TYPE IX617698C4540171OMIM035723656607381
HP:0001257HP:0001257Spasticity0TRAK1 CL E G H22906442835ORPHA020829947608112
HP:0001257HP:0001257Spasticity0TSEN15 CL E G H116461617026Pontocerebellar hypoplasia, type 2f617026C4310757OMIM06516791608756
HP:0001257HP:0001257Spasticity0UBA5 CL E G H79876442835ORPHA022323230610552
HP:0001257HP:0001257Spasticity0VPS13C CL E G H54832616840Parkinson disease 23, autosomal recessive early-onset616840C4225186OMIM082823594608879
HP:0001257HP:0001257Spasticity0WASHC4 CL E G H23325615817Mental retardation, autosomal recessive 43615817C4014386OMIM011229174615748
HP:0001257HP:0001257Spasticity0WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM022025928616144
HP:0001257HP:0001257Spasticity0WWOX CL E G H51741442835ORPHA0110212799605131
HP:0001257HP:0001257Spasticity0WWOX CL E G H51741614322Spinocerebellar ataxia, autosomal recessive 12614322C3280452OMIM0110212799605131
HP:0001257HP:0001257Spasticity0XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA032112814611153
HP:0001257HP:0001257Spasticity0XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA078812816613208
HP:0001257HP:0001257Spasticity0YWHAG CL E G H7532442835ORPHA018912852605356
HP:0001257HP:0002491Spasticity of facial muscles1AARS CL E G H16442835ORPHA020601065
HP:0001257HP:0031866Clasp-knife sign1AARS CL E G H16442835ORPHA020601065
HP:0001257HP:0002061Lower limb spasticity1AARS CL E G H16442835ORPHA020601065
HP:0001257HP:0002179Opisthotonus1AARS CL E G H16442835ORPHA020601065
HP:0001257HP:0002191Progressive spasticity1AARS CL E G H16442835ORPHA020601065
HP:0001257HP:0001264Spastic diplegia1AARS CL E G H16442835ORPHA020601065
HP:0001257HP:0002464Spastic dysarthria1AARS CL E G H16442835ORPHA020601065
HP:0001257HP:0002064Spastic gait1AARS CL E G H16442835ORPHA020601065
HP:0001257HP:0011099Spastic hemiparesis1AARS CL E G H16442835ORPHA020601065
HP:0001257HP:0001285Spastic tetraparesis1AARS CL E G H16442835ORPHA020601065
HP:0001257HP:0002510Spastic tetraplegia1AARS CL E G H16442835ORPHA020601065
HP:0001257HP:0002501Spasticity of pharyngeal muscles1AARS CL E G H16442835ORPHA020601065
HP:0001257HP:0006986Upper limb spasticity1AARS CL E G H16442835ORPHA020601065
HP:0001257HP:0002491Spasticity of facial muscles1ADAT3 CL E G H113179615286Mental retardation, autosomal recessive 36615286C3809039OMIM012725151615302
HP:0001257HP:0031866Clasp-knife sign1ADAT3 CL E G H113179615286Mental retardation, autosomal recessive 36615286C3809039OMIM012725151615302
HP:0001257HP:0002061Lower limb spasticity1ADAT3 CL E G H113179615286Mental retardation, autosomal recessive 36615286C3809039OMIM012725151615302
HP:0001257HP:0002179Opisthotonus1ADAT3 CL E G H113179615286Mental retardation, autosomal recessive 36615286C3809039OMIM012725151615302
HP:0001257HP:0002191Progressive spasticity1ADAT3 CL E G H113179615286Mental retardation, autosomal recessive 36615286C3809039OMIM012725151615302
HP:0001257HP:0001264Spastic diplegia1ADAT3 CL E G H113179615286Mental retardation, autosomal recessive 36615286C3809039OMIM012725151615302
HP:0001257HP:0002464Spastic dysarthria1ADAT3 CL E G H113179615286Mental retardation, autosomal recessive 36615286C3809039OMIM012725151615302
HP:0001257HP:0002064Spastic gait1ADAT3 CL E G H113179615286Mental retardation, autosomal recessive 36615286C3809039OMIM012725151615302
HP:0001257HP:0011099Spastic hemiparesis1ADAT3 CL E G H113179615286Mental retardation, autosomal recessive 36615286C3809039OMIM012725151615302
HP:0001257HP:0001285Spastic tetraparesis1ADAT3 CL E G H113179615286Mental retardation, autosomal recessive 36615286C3809039OMIM012725151615302
HP:0001257HP:0002510Spastic tetraplegia1ADAT3 CL E G H113179615286Mental retardation, autosomal recessive 36615286C3809039OMIM012725151615302
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ADAT3 CL E G H113179615286Mental retardation, autosomal recessive 36615286C3809039OMIM012725151615302
HP:0001257HP:0006986Upper limb spasticity1ADAT3 CL E G H113179615286Mental retardation, autosomal recessive 36615286C3809039OMIM012725151615302
HP:0001257HP:0002491Spasticity of facial muscles1AFG3L2 CL E G H10939101109ORPHA0480315604581
HP:0001257HP:0031866Clasp-knife sign1AFG3L2 CL E G H10939101109ORPHA0480315604581
HP:0001257HP:0002061Lower limb spasticity1AFG3L2 CL E G H10939101109ORPHA0480315604581
HP:0001257HP:0002179Opisthotonus1AFG3L2 CL E G H10939101109ORPHA0480315604581
HP:0001257HP:0002191Progressive spasticity1AFG3L2 CL E G H10939101109ORPHA0480315604581
HP:0001257HP:0001264Spastic diplegia1AFG3L2 CL E G H10939101109ORPHA0480315604581
HP:0001257HP:0002464Spastic dysarthria1AFG3L2 CL E G H10939101109ORPHA0480315604581
HP:0001257HP:0002064Spastic gait1AFG3L2 CL E G H10939101109ORPHA0480315604581
HP:0001257HP:0011099Spastic hemiparesis1AFG3L2 CL E G H10939101109ORPHA0480315604581
HP:0001257HP:0001285Spastic tetraparesis1AFG3L2 CL E G H10939101109ORPHA0480315604581
HP:0001257HP:0002510Spastic tetraplegia1AFG3L2 CL E G H10939101109ORPHA0480315604581
HP:0001257HP:0002501Spasticity of pharyngeal muscles1AFG3L2 CL E G H10939101109ORPHA0480315604581
HP:0001257HP:0006986Upper limb spasticity1AFG3L2 CL E G H10939101109ORPHA0480315604581
HP:0001257HP:0002491Spasticity of facial muscles1AGTPBP1 CL E G H23287618276618276618276OMIM010517258606830
HP:0001257HP:0031866Clasp-knife sign1AGTPBP1 CL E G H23287618276618276618276OMIM010517258606830
HP:0001257HP:0002061Lower limb spasticity1AGTPBP1 CL E G H23287618276618276618276OMIM010517258606830
HP:0001257HP:0002179Opisthotonus1AGTPBP1 CL E G H23287618276618276618276OMIM010517258606830
HP:0001257HP:0002191Progressive spasticity1AGTPBP1 CL E G H23287618276618276618276OMIM010517258606830
HP:0001257HP:0001264Spastic diplegia1AGTPBP1 CL E G H23287618276618276618276OMIM010517258606830
HP:0001257HP:0002464Spastic dysarthria1AGTPBP1 CL E G H23287618276618276618276OMIM010517258606830
HP:0001257HP:0002064Spastic gait1AGTPBP1 CL E G H23287618276618276618276OMIM010517258606830
HP:0001257HP:0011099Spastic hemiparesis1AGTPBP1 CL E G H23287618276618276618276OMIM010517258606830
HP:0001257HP:0001285Spastic tetraparesis1AGTPBP1 CL E G H23287618276618276618276OMIM010517258606830
HP:0001257HP:0002510Spastic tetraplegia1AGTPBP1 CL E G H23287618276618276618276OMIM010517258606830
HP:0001257HP:0002501Spasticity of pharyngeal muscles1AGTPBP1 CL E G H23287618276618276618276OMIM010517258606830
HP:0001257HP:0006986Upper limb spasticity1AGTPBP1 CL E G H23287618276618276618276OMIM010517258606830
HP:0001257HP:0002491Spasticity of facial muscles1AP3B2 CL E G H8120442835ORPHA0690567602166
HP:0001257HP:0031866Clasp-knife sign1AP3B2 CL E G H8120442835ORPHA0690567602166
HP:0001257HP:0002061Lower limb spasticity1AP3B2 CL E G H8120442835ORPHA0690567602166
HP:0001257HP:0002179Opisthotonus1AP3B2 CL E G H8120442835ORPHA0690567602166
HP:0001257HP:0002191Progressive spasticity1AP3B2 CL E G H8120442835ORPHA0690567602166
HP:0001257HP:0001264Spastic diplegia1AP3B2 CL E G H8120442835ORPHA0690567602166
HP:0001257HP:0002464Spastic dysarthria1AP3B2 CL E G H8120442835ORPHA0690567602166
HP:0001257HP:0002064Spastic gait1AP3B2 CL E G H8120442835ORPHA0690567602166
HP:0001257HP:0011099Spastic hemiparesis1AP3B2 CL E G H8120442835ORPHA0690567602166
HP:0001257HP:0001285Spastic tetraparesis1AP3B2 CL E G H8120442835ORPHA0690567602166
HP:0001257HP:0002510Spastic tetraplegia1AP3B2 CL E G H8120442835ORPHA0690567602166
HP:0001257HP:0002501Spasticity of pharyngeal muscles1AP3B2 CL E G H8120442835ORPHA0690567602166
HP:0001257HP:0006986Upper limb spasticity1AP3B2 CL E G H8120442835ORPHA0690567602166
HP:0001257HP:0002491Spasticity of facial muscles1ARSA CL E G H410309256ORPHA01140713607574
HP:0001257HP:0031866Clasp-knife sign1ARSA CL E G H410309256ORPHA01140713607574
HP:0001257HP:0002061Lower limb spasticity1ARSA CL E G H410309256ORPHA01140713607574
HP:0001257HP:0002179Opisthotonus1ARSA CL E G H410309256ORPHA01140713607574
HP:0001257HP:0002191Progressive spasticity1ARSA CL E G H410309256ORPHA01140713607574
HP:0001257HP:0001264Spastic diplegia1ARSA CL E G H410309256ORPHA01140713607574
HP:0001257HP:0002464Spastic dysarthria1ARSA CL E G H410309256ORPHA01140713607574
HP:0001257HP:0002064Spastic gait1ARSA CL E G H410309256ORPHA01140713607574
HP:0001257HP:0011099Spastic hemiparesis1ARSA CL E G H410309256ORPHA01140713607574
HP:0001257HP:0001285Spastic tetraparesis1ARSA CL E G H410309256ORPHA01140713607574
HP:0001257HP:0002510Spastic tetraplegia1ARSA CL E G H410309256ORPHA01140713607574
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ARSA CL E G H410309256ORPHA01140713607574
HP:0001257HP:0006986Upper limb spasticity1ARSA CL E G H410309256ORPHA01140713607574
HP:0001257HP:0002491Spasticity of facial muscles1ARSA CL E G H410309263ORPHA01140713607574
HP:0001257HP:0031866Clasp-knife sign1ARSA CL E G H410309263ORPHA01140713607574
HP:0001257HP:0002061Lower limb spasticity1ARSA CL E G H410309263ORPHA01140713607574
HP:0001257HP:0002179Opisthotonus1ARSA CL E G H410309263ORPHA01140713607574
HP:0001257HP:0002191Progressive spasticity1ARSA CL E G H410309263ORPHA01140713607574
HP:0001257HP:0001264Spastic diplegia1ARSA CL E G H410309263ORPHA01140713607574
HP:0001257HP:0002464Spastic dysarthria1ARSA CL E G H410309263ORPHA01140713607574
HP:0001257HP:0002064Spastic gait1ARSA CL E G H410309263ORPHA01140713607574
HP:0001257HP:0011099Spastic hemiparesis1ARSA CL E G H410309263ORPHA01140713607574
HP:0001257HP:0001285Spastic tetraparesis1ARSA CL E G H410309263ORPHA01140713607574
HP:0001257HP:0002510Spastic tetraplegia1ARSA CL E G H410309263ORPHA01140713607574
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ARSA CL E G H410309263ORPHA01140713607574
HP:0001257HP:0006986Upper limb spasticity1ARSA CL E G H410309263ORPHA01140713607574
HP:0001257HP:0002491Spasticity of facial muscles1ARV1 CL E G H64801442835ORPHA08929561611647
HP:0001257HP:0031866Clasp-knife sign1ARV1 CL E G H64801442835ORPHA08929561611647
HP:0001257HP:0002061Lower limb spasticity1ARV1 CL E G H64801442835ORPHA08929561611647
HP:0001257HP:0002179Opisthotonus1ARV1 CL E G H64801442835ORPHA08929561611647
HP:0001257HP:0002191Progressive spasticity1ARV1 CL E G H64801442835ORPHA08929561611647
HP:0001257HP:0001264Spastic diplegia1ARV1 CL E G H64801442835ORPHA08929561611647
HP:0001257HP:0002464Spastic dysarthria1ARV1 CL E G H64801442835ORPHA08929561611647
HP:0001257HP:0002064Spastic gait1ARV1 CL E G H64801442835ORPHA08929561611647
HP:0001257HP:0011099Spastic hemiparesis1ARV1 CL E G H64801442835ORPHA08929561611647
HP:0001257HP:0001285Spastic tetraparesis1ARV1 CL E G H64801442835ORPHA08929561611647
HP:0001257HP:0002510Spastic tetraplegia1ARV1 CL E G H64801442835ORPHA08929561611647
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ARV1 CL E G H64801442835ORPHA08929561611647
HP:0001257HP:0006986Upper limb spasticity1ARV1 CL E G H64801442835ORPHA08929561611647
HP:0001257HP:0002491Spasticity of facial muscles1ARX CL E G H170302452ORPHA081018060300382
HP:0001257HP:0031866Clasp-knife sign1ARX CL E G H170302452ORPHA081018060300382
HP:0001257HP:0002061Lower limb spasticity1ARX CL E G H170302452ORPHA081018060300382
HP:0001257HP:0002179Opisthotonus1ARX CL E G H170302452ORPHA081018060300382
HP:0001257HP:0002191Progressive spasticity1ARX CL E G H170302452ORPHA081018060300382
HP:0001257HP:0001264Spastic diplegia1ARX CL E G H170302452ORPHA081018060300382
HP:0001257HP:0002464Spastic dysarthria1ARX CL E G H170302452ORPHA081018060300382
HP:0001257HP:0002064Spastic gait1ARX CL E G H170302452ORPHA081018060300382
HP:0001257HP:0011099Spastic hemiparesis1ARX CL E G H170302452ORPHA081018060300382
HP:0001257HP:0001285Spastic tetraparesis1ARX CL E G H170302452ORPHA081018060300382
HP:0001257HP:0002510Spastic tetraplegia1ARX CL E G H170302452ORPHA081018060300382
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ARX CL E G H170302452ORPHA081018060300382
HP:0001257HP:0006986Upper limb spasticity1ARX CL E G H170302452ORPHA081018060300382
HP:0001257HP:0002491Spasticity of facial muscles1ATP6AP2 CL E G H10159300911Parkinsonism with spasticity, X-linked300911C3806722OMIM034018305300556
HP:0001257HP:0031866Clasp-knife sign1ATP6AP2 CL E G H10159300911Parkinsonism with spasticity, X-linked300911C3806722OMIM034018305300556
HP:0001257HP:0002061Lower limb spasticity1ATP6AP2 CL E G H10159300911Parkinsonism with spasticity, X-linked300911C3806722OMIM034018305300556
HP:0001257HP:0002179Opisthotonus1ATP6AP2 CL E G H10159300911Parkinsonism with spasticity, X-linked300911C3806722OMIM034018305300556
HP:0001257HP:0002191Progressive spasticity1ATP6AP2 CL E G H10159300911Parkinsonism with spasticity, X-linked300911C3806722OMIM034018305300556
HP:0001257HP:0001264Spastic diplegia1ATP6AP2 CL E G H10159300911Parkinsonism with spasticity, X-linked300911C3806722OMIM034018305300556
HP:0001257HP:0002464Spastic dysarthria1ATP6AP2 CL E G H10159300911Parkinsonism with spasticity, X-linked300911C3806722OMIM034018305300556
HP:0001257HP:0002064Spastic gait1ATP6AP2 CL E G H10159300911Parkinsonism with spasticity, X-linked300911C3806722OMIM034018305300556
HP:0001257HP:0011099Spastic hemiparesis1ATP6AP2 CL E G H10159300911Parkinsonism with spasticity, X-linked300911C3806722OMIM034018305300556
HP:0001257HP:0001285Spastic tetraparesis1ATP6AP2 CL E G H10159300911Parkinsonism with spasticity, X-linked300911C3806722OMIM034018305300556
HP:0001257HP:0002510Spastic tetraplegia1ATP6AP2 CL E G H10159300911Parkinsonism with spasticity, X-linked300911C3806722OMIM034018305300556
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ATP6AP2 CL E G H10159300911Parkinsonism with spasticity, X-linked300911C3806722OMIM034018305300556
HP:0001257HP:0006986Upper limb spasticity1ATP6AP2 CL E G H10159300911Parkinsonism with spasticity, X-linked300911C3806722OMIM034018305300556
HP:0001257HP:0002491Spasticity of facial muscles1ATP6V1A CL E G H523442835ORPHA0229851607027
HP:0001257HP:0031866Clasp-knife sign1ATP6V1A CL E G H523442835ORPHA0229851607027
HP:0001257HP:0002061Lower limb spasticity1ATP6V1A CL E G H523442835ORPHA0229851607027
HP:0001257HP:0002179Opisthotonus1ATP6V1A CL E G H523442835ORPHA0229851607027
HP:0001257HP:0002191Progressive spasticity1ATP6V1A CL E G H523442835ORPHA0229851607027
HP:0001257HP:0001264Spastic diplegia1ATP6V1A CL E G H523442835ORPHA0229851607027
HP:0001257HP:0002464Spastic dysarthria1ATP6V1A CL E G H523442835ORPHA0229851607027
HP:0001257HP:0002064Spastic gait1ATP6V1A CL E G H523442835ORPHA0229851607027
HP:0001257HP:0011099Spastic hemiparesis1ATP6V1A CL E G H523442835ORPHA0229851607027
HP:0001257HP:0001285Spastic tetraparesis1ATP6V1A CL E G H523442835ORPHA0229851607027
HP:0001257HP:0002510Spastic tetraplegia1ATP6V1A CL E G H523442835ORPHA0229851607027
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ATP6V1A CL E G H523442835ORPHA0229851607027
HP:0001257HP:0006986Upper limb spasticity1ATP6V1A CL E G H523442835ORPHA0229851607027
HP:0001257HP:0002491Spasticity of facial muscles1ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM0657106607047
HP:0001257HP:0031866Clasp-knife sign1ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM0657106607047
HP:0001257HP:0002061Lower limb spasticity1ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM0657106607047
HP:0001257HP:0002179Opisthotonus1ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM0657106607047
HP:0001257HP:0002191Progressive spasticity1ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM0657106607047
HP:0001257HP:0001264Spastic diplegia1ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM0657106607047
HP:0001257HP:0002464Spastic dysarthria1ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM0657106607047
HP:0001257HP:0002064Spastic gait1ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM0657106607047
HP:0001257HP:0011099Spastic hemiparesis1ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM0657106607047
HP:0001257HP:0001285Spastic tetraparesis1ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM0657106607047
HP:0001257HP:0002510Spastic tetraplegia1ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM0657106607047
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM0657106607047
HP:0001257HP:0006986Upper limb spasticity1ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM0657106607047
HP:0001257HP:0002491Spasticity of facial muscles1BEAN1 CL E G H146227217012ORPHA05624160612051
HP:0001257HP:0031866Clasp-knife sign1BEAN1 CL E G H146227217012ORPHA05624160612051
HP:0001257HP:0002061Lower limb spasticity1BEAN1 CL E G H146227217012ORPHA05624160612051
HP:0001257HP:0002179Opisthotonus1BEAN1 CL E G H146227217012ORPHA05624160612051
HP:0001257HP:0002191Progressive spasticity1BEAN1 CL E G H146227217012ORPHA05624160612051
HP:0001257HP:0001264Spastic diplegia1BEAN1 CL E G H146227217012ORPHA05624160612051
HP:0001257HP:0002464Spastic dysarthria1BEAN1 CL E G H146227217012ORPHA05624160612051
HP:0001257HP:0002064Spastic gait1BEAN1 CL E G H146227217012ORPHA05624160612051
HP:0001257HP:0011099Spastic hemiparesis1BEAN1 CL E G H146227217012ORPHA05624160612051
HP:0001257HP:0001285Spastic tetraparesis1BEAN1 CL E G H146227217012ORPHA05624160612051
HP:0001257HP:0002510Spastic tetraplegia1BEAN1 CL E G H146227217012ORPHA05624160612051
HP:0001257HP:0002501Spasticity of pharyngeal muscles1BEAN1 CL E G H146227217012ORPHA05624160612051
HP:0001257HP:0006986Upper limb spasticity1BEAN1 CL E G H146227217012ORPHA05624160612051
HP:0001257HP:0002491Spasticity of facial muscles1BICD2 CL E G H23299615290Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant615290C3809049OMIM074017208609797
HP:0001257HP:0031866Clasp-knife sign1BICD2 CL E G H23299615290Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant615290C3809049OMIM074017208609797
HP:0001257HP:0002061Lower limb spasticity1BICD2 CL E G H23299615290Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant615290C3809049OMIM074017208609797
HP:0001257HP:0002179Opisthotonus1BICD2 CL E G H23299615290Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant615290C3809049OMIM074017208609797
HP:0001257HP:0002191Progressive spasticity1BICD2 CL E G H23299615290Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant615290C3809049OMIM074017208609797
HP:0001257HP:0001264Spastic diplegia1BICD2 CL E G H23299615290Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant615290C3809049OMIM074017208609797
HP:0001257HP:0002464Spastic dysarthria1BICD2 CL E G H23299615290Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant615290C3809049OMIM074017208609797
HP:0001257HP:0002064Spastic gait1BICD2 CL E G H23299615290Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant615290C3809049OMIM074017208609797
HP:0001257HP:0011099Spastic hemiparesis1BICD2 CL E G H23299615290Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant615290C3809049OMIM074017208609797
HP:0001257HP:0001285Spastic tetraparesis1BICD2 CL E G H23299615290Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant615290C3809049OMIM074017208609797
HP:0001257HP:0002510Spastic tetraplegia1BICD2 CL E G H23299615290Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant615290C3809049OMIM074017208609797
HP:0001257HP:0002501Spasticity of pharyngeal muscles1BICD2 CL E G H23299615290Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant615290C3809049OMIM074017208609797
HP:0001257HP:0006986Upper limb spasticity1BICD2 CL E G H23299615290Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant615290C3809049OMIM074017208609797
HP:0001257HP:0002491Spasticity of facial muscles1CACNA1A CL E G H773442835ORPHA032481388601011
HP:0001257HP:0031866Clasp-knife sign1CACNA1A CL E G H773442835ORPHA032481388601011
HP:0001257HP:0002061Lower limb spasticity1CACNA1A CL E G H773442835ORPHA032481388601011
HP:0001257HP:0002179Opisthotonus1CACNA1A CL E G H773442835ORPHA032481388601011
HP:0001257HP:0002191Progressive spasticity1CACNA1A CL E G H773442835ORPHA032481388601011
HP:0001257HP:0001264Spastic diplegia1CACNA1A CL E G H773442835ORPHA032481388601011
HP:0001257HP:0002464Spastic dysarthria1CACNA1A CL E G H773442835ORPHA032481388601011
HP:0001257HP:0002064Spastic gait1CACNA1A CL E G H773442835ORPHA032481388601011
HP:0001257HP:0011099Spastic hemiparesis1CACNA1A CL E G H773442835ORPHA032481388601011
HP:0001257HP:0001285Spastic tetraparesis1CACNA1A CL E G H773442835ORPHA032481388601011
HP:0001257HP:0002510Spastic tetraplegia1CACNA1A CL E G H773442835ORPHA032481388601011
HP:0001257HP:0002501Spasticity of pharyngeal muscles1CACNA1A CL E G H773442835ORPHA032481388601011
HP:0001257HP:0006986Upper limb spasticity1CACNA1A CL E G H773442835ORPHA032481388601011
HP:0001257HP:0002491Spasticity of facial muscles1CASK CL E G H8573163937ORPHA08441497300172
HP:0001257HP:0031866Clasp-knife sign1CASK CL E G H8573163937ORPHA08441497300172
HP:0001257HP:0002061Lower limb spasticity1CASK CL E G H8573163937ORPHA08441497300172
HP:0001257HP:0002179Opisthotonus1CASK CL E G H8573163937ORPHA08441497300172
HP:0001257HP:0002191Progressive spasticity1CASK CL E G H8573163937ORPHA08441497300172
HP:0001257HP:0001264Spastic diplegia1CASK CL E G H8573163937ORPHA08441497300172
HP:0001257HP:0002464Spastic dysarthria1CASK CL E G H8573163937ORPHA08441497300172
HP:0001257HP:0002064Spastic gait1CASK CL E G H8573163937ORPHA08441497300172
HP:0001257HP:0011099Spastic hemiparesis1CASK CL E G H8573163937ORPHA08441497300172
HP:0001257HP:0001285Spastic tetraparesis1CASK CL E G H8573163937ORPHA08441497300172
HP:0001257HP:0002510Spastic tetraplegia1CASK CL E G H8573163937ORPHA08441497300172
HP:0001257HP:0002501Spasticity of pharyngeal muscles1CASK CL E G H8573163937ORPHA08441497300172
HP:0001257HP:0006986Upper limb spasticity1CASK CL E G H8573163937ORPHA08441497300172
HP:0001257HP:0002491Spasticity of facial muscles1CLIC2 CL E G H1193300886Mental retardation, X-linked, syndromic 32300886C3550913OMIM02702063300138
HP:0001257HP:0031866Clasp-knife sign1CLIC2 CL E G H1193300886Mental retardation, X-linked, syndromic 32300886C3550913OMIM02702063300138
HP:0001257HP:0002061Lower limb spasticity1CLIC2 CL E G H1193300886Mental retardation, X-linked, syndromic 32300886C3550913OMIM02702063300138
HP:0001257HP:0002179Opisthotonus1CLIC2 CL E G H1193300886Mental retardation, X-linked, syndromic 32300886C3550913OMIM02702063300138
HP:0001257HP:0002191Progressive spasticity1CLIC2 CL E G H1193300886Mental retardation, X-linked, syndromic 32300886C3550913OMIM02702063300138
HP:0001257HP:0001264Spastic diplegia1CLIC2 CL E G H1193300886Mental retardation, X-linked, syndromic 32300886C3550913OMIM02702063300138
HP:0001257HP:0002464Spastic dysarthria1CLIC2 CL E G H1193300886Mental retardation, X-linked, syndromic 32300886C3550913OMIM02702063300138
HP:0001257HP:0002064Spastic gait1CLIC2 CL E G H1193300886Mental retardation, X-linked, syndromic 32300886C3550913OMIM02702063300138
HP:0001257HP:0011099Spastic hemiparesis1CLIC2 CL E G H1193300886Mental retardation, X-linked, syndromic 32300886C3550913OMIM02702063300138
HP:0001257HP:0001285Spastic tetraparesis1CLIC2 CL E G H1193300886Mental retardation, X-linked, syndromic 32300886C3550913OMIM02702063300138
HP:0001257HP:0002510Spastic tetraplegia1CLIC2 CL E G H1193300886Mental retardation, X-linked, syndromic 32300886C3550913OMIM02702063300138
HP:0001257HP:0002501Spasticity of pharyngeal muscles1CLIC2 CL E G H1193300886Mental retardation, X-linked, syndromic 32300886C3550913OMIM02702063300138
HP:0001257HP:0006986Upper limb spasticity1CLIC2 CL E G H1193300886Mental retardation, X-linked, syndromic 32300886C3550913OMIM02702063300138
HP:0001257HP:0002491Spasticity of facial muscles1CLTC CL E G H1213442835ORPHA06452092118955
HP:0001257HP:0031866Clasp-knife sign1CLTC CL E G H1213442835ORPHA06452092118955
HP:0001257HP:0002061Lower limb spasticity1CLTC CL E G H1213442835ORPHA06452092118955
HP:0001257HP:0002179Opisthotonus1CLTC CL E G H1213442835ORPHA06452092118955
HP:0001257HP:0002191Progressive spasticity1CLTC CL E G H1213442835ORPHA06452092118955
HP:0001257HP:0001264Spastic diplegia1CLTC CL E G H1213442835ORPHA06452092118955
HP:0001257HP:0002464Spastic dysarthria1CLTC CL E G H1213442835ORPHA06452092118955
HP:0001257HP:0002064Spastic gait1CLTC CL E G H1213442835ORPHA06452092118955
HP:0001257HP:0011099Spastic hemiparesis1CLTC CL E G H1213442835ORPHA06452092118955
HP:0001257HP:0001285Spastic tetraparesis1CLTC CL E G H1213442835ORPHA06452092118955
HP:0001257HP:0002510Spastic tetraplegia1CLTC CL E G H1213442835ORPHA06452092118955
HP:0001257HP:0002501Spasticity of pharyngeal muscles1CLTC CL E G H1213442835ORPHA06452092118955
HP:0001257HP:0006986Upper limb spasticity1CLTC CL E G H1213442835ORPHA06452092118955
HP:0001257HP:0002491Spasticity of facial muscles1CNKSR2 CL E G H22866442835ORPHA030619701300724
HP:0001257HP:0031866Clasp-knife sign1CNKSR2 CL E G H22866442835ORPHA030619701300724
HP:0001257HP:0002061Lower limb spasticity1CNKSR2 CL E G H22866442835ORPHA030619701300724
HP:0001257HP:0002179Opisthotonus1CNKSR2 CL E G H22866442835ORPHA030619701300724
HP:0001257HP:0002191Progressive spasticity1CNKSR2 CL E G H22866442835ORPHA030619701300724
HP:0001257HP:0001264Spastic diplegia1CNKSR2 CL E G H22866442835ORPHA030619701300724
HP:0001257HP:0002464Spastic dysarthria1CNKSR2 CL E G H22866442835ORPHA030619701300724
HP:0001257HP:0002064Spastic gait1CNKSR2 CL E G H22866442835ORPHA030619701300724
HP:0001257HP:0011099Spastic hemiparesis1CNKSR2 CL E G H22866442835ORPHA030619701300724
HP:0001257HP:0001285Spastic tetraparesis1CNKSR2 CL E G H22866442835ORPHA030619701300724
HP:0001257HP:0002510Spastic tetraplegia1CNKSR2 CL E G H22866442835ORPHA030619701300724
HP:0001257HP:0002501Spasticity of pharyngeal muscles1CNKSR2 CL E G H22866442835ORPHA030619701300724
HP:0001257HP:0006986Upper limb spasticity1CNKSR2 CL E G H22866442835ORPHA030619701300724
HP:0001257HP:0002491Spasticity of facial muscles1CYFIP2 CL E G H26999442835ORPHA066813760606323
HP:0001257HP:0031866Clasp-knife sign1CYFIP2 CL E G H26999442835ORPHA066813760606323
HP:0001257HP:0002061Lower limb spasticity1CYFIP2 CL E G H26999442835ORPHA066813760606323
HP:0001257HP:0002179Opisthotonus1CYFIP2 CL E G H26999442835ORPHA066813760606323
HP:0001257HP:0002191Progressive spasticity1CYFIP2 CL E G H26999442835ORPHA066813760606323
HP:0001257HP:0001264Spastic diplegia1CYFIP2 CL E G H26999442835ORPHA066813760606323
HP:0001257HP:0002464Spastic dysarthria1CYFIP2 CL E G H26999442835ORPHA066813760606323
HP:0001257HP:0002064Spastic gait1CYFIP2 CL E G H26999442835ORPHA066813760606323
HP:0001257HP:0011099Spastic hemiparesis1CYFIP2 CL E G H26999442835ORPHA066813760606323
HP:0001257HP:0001285Spastic tetraparesis1CYFIP2 CL E G H26999442835ORPHA066813760606323
HP:0001257HP:0002510Spastic tetraplegia1CYFIP2 CL E G H26999442835ORPHA066813760606323
HP:0001257HP:0002501Spasticity of pharyngeal muscles1CYFIP2 CL E G H26999442835ORPHA066813760606323
HP:0001257HP:0006986Upper limb spasticity1CYFIP2 CL E G H26999442835ORPHA066813760606323
HP:0001257HP:0002491Spasticity of facial muscles1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01422718600811
HP:0001257HP:0031866Clasp-knife sign1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01422718600811
HP:0001257HP:0002061Lower limb spasticity1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01422718600811
HP:0001257HP:0002179Opisthotonus1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01422718600811
HP:0001257HP:0002191Progressive spasticity1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01422718600811
HP:0001257HP:0001264Spastic diplegia1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01422718600811
HP:0001257HP:0002464Spastic dysarthria1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01422718600811
HP:0001257HP:0002064Spastic gait1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01422718600811
HP:0001257HP:0011099Spastic hemiparesis1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01422718600811
HP:0001257HP:0001285Spastic tetraparesis1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01422718600811
HP:0001257HP:0002510Spastic tetraplegia1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01422718600811
HP:0001257HP:0002501Spasticity of pharyngeal muscles1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01422718600811
HP:0001257HP:0006986Upper limb spasticity1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01422718600811
HP:0001257HP:0002491Spasticity of facial muscles1DDX3X CL E G H1654300958Mental retardation, X-linked 102300958C4085582OMIM07452745300160
HP:0001257HP:0031866Clasp-knife sign1DDX3X CL E G H1654300958Mental retardation, X-linked 102300958C4085582OMIM07452745300160
HP:0001257HP:0002061Lower limb spasticity1DDX3X CL E G H1654300958Mental retardation, X-linked 102300958C4085582OMIM07452745300160
HP:0001257HP:0002179Opisthotonus1DDX3X CL E G H1654300958Mental retardation, X-linked 102300958C4085582OMIM07452745300160
HP:0001257HP:0002191Progressive spasticity1DDX3X CL E G H1654300958Mental retardation, X-linked 102300958C4085582OMIM07452745300160
HP:0001257HP:0001264Spastic diplegia1DDX3X CL E G H1654300958Mental retardation, X-linked 102300958C4085582OMIM07452745300160
HP:0001257HP:0002464Spastic dysarthria1DDX3X CL E G H1654300958Mental retardation, X-linked 102300958C4085582OMIM07452745300160
HP:0001257HP:0002064Spastic gait1DDX3X CL E G H1654300958Mental retardation, X-linked 102300958C4085582OMIM07452745300160
HP:0001257HP:0011099Spastic hemiparesis1DDX3X CL E G H1654300958Mental retardation, X-linked 102300958C4085582OMIM07452745300160
HP:0001257HP:0001285Spastic tetraparesis1DDX3X CL E G H1654300958Mental retardation, X-linked 102300958C4085582OMIM07452745300160
HP:0001257HP:0002510Spastic tetraplegia1DDX3X CL E G H1654300958Mental retardation, X-linked 102300958C4085582OMIM07452745300160
HP:0001257HP:0002501Spasticity of pharyngeal muscles1DDX3X CL E G H1654300958Mental retardation, X-linked 102300958C4085582OMIM07452745300160
HP:0001257HP:0006986Upper limb spasticity1DDX3X CL E G H1654300958Mental retardation, X-linked 102300958C4085582OMIM07452745300160
HP:0001257HP:0002491Spasticity of facial muscles1DHDDS CL E G H79947442835ORPHA043420603608172
HP:0001257HP:0031866Clasp-knife sign1DHDDS CL E G H79947442835ORPHA043420603608172
HP:0001257HP:0002061Lower limb spasticity1DHDDS CL E G H79947442835ORPHA043420603608172
HP:0001257HP:0002179Opisthotonus1DHDDS CL E G H79947442835ORPHA043420603608172
HP:0001257HP:0002191Progressive spasticity1DHDDS CL E G H79947442835ORPHA043420603608172
HP:0001257HP:0001264Spastic diplegia1DHDDS CL E G H79947442835ORPHA043420603608172
HP:0001257HP:0002464Spastic dysarthria1DHDDS CL E G H79947442835ORPHA043420603608172
HP:0001257HP:0002064Spastic gait1DHDDS CL E G H79947442835ORPHA043420603608172
HP:0001257HP:0011099Spastic hemiparesis1DHDDS CL E G H79947442835ORPHA043420603608172
HP:0001257HP:0001285Spastic tetraparesis1DHDDS CL E G H79947442835ORPHA043420603608172
HP:0001257HP:0002510Spastic tetraplegia1DHDDS CL E G H79947442835ORPHA043420603608172
HP:0001257HP:0002501Spasticity of pharyngeal muscles1DHDDS CL E G H79947442835ORPHA043420603608172
HP:0001257HP:0006986Upper limb spasticity1DHDDS CL E G H79947442835ORPHA043420603608172
HP:0001257HP:0002491Spasticity of facial muscles1DNM1 CL E G H1759442835ORPHA07652972602377
HP:0001257HP:0031866Clasp-knife sign1DNM1 CL E G H1759442835ORPHA07652972602377
HP:0001257HP:0002061Lower limb spasticity1DNM1 CL E G H1759442835ORPHA07652972602377
HP:0001257HP:0002179Opisthotonus1DNM1 CL E G H1759442835ORPHA07652972602377
HP:0001257HP:0002191Progressive spasticity1DNM1 CL E G H1759442835ORPHA07652972602377
HP:0001257HP:0001264Spastic diplegia1DNM1 CL E G H1759442835ORPHA07652972602377
HP:0001257HP:0002464Spastic dysarthria1DNM1 CL E G H1759442835ORPHA07652972602377
HP:0001257HP:0002064Spastic gait1DNM1 CL E G H1759442835ORPHA07652972602377
HP:0001257HP:0011099Spastic hemiparesis1DNM1 CL E G H1759442835ORPHA07652972602377
HP:0001257HP:0001285Spastic tetraparesis1DNM1 CL E G H1759442835ORPHA07652972602377
HP:0001257HP:0002510Spastic tetraplegia1DNM1 CL E G H1759442835ORPHA07652972602377
HP:0001257HP:0002501Spasticity of pharyngeal muscles1DNM1 CL E G H1759442835ORPHA07652972602377
HP:0001257HP:0006986Upper limb spasticity1DNM1 CL E G H1759442835ORPHA07652972602377
HP:0001257HP:0002491Spasticity of facial muscles1DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0001257HP:0031866Clasp-knife sign1DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0001257HP:0002061Lower limb spasticity1DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0001257HP:0002179Opisthotonus1DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0001257HP:0002191Progressive spasticity1DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0001257HP:0001264Spastic diplegia1DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0001257HP:0002464Spastic dysarthria1DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0001257HP:0002064Spastic gait1DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0001257HP:0011099Spastic hemiparesis1DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0001257HP:0001285Spastic tetraparesis1DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0001257HP:0002510Spastic tetraplegia1DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0001257HP:0002501Spasticity of pharyngeal muscles1DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0001257HP:0006986Upper limb spasticity1DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0001257HP:0002491Spasticity of facial muscles1EEF1A2 CL E G H1917442835ORPHA05753192602959
HP:0001257HP:0031866Clasp-knife sign1EEF1A2 CL E G H1917442835ORPHA05753192602959
HP:0001257HP:0002061Lower limb spasticity1EEF1A2 CL E G H1917442835ORPHA05753192602959
HP:0001257HP:0002179Opisthotonus1EEF1A2 CL E G H1917442835ORPHA05753192602959
HP:0001257HP:0002191Progressive spasticity1EEF1A2 CL E G H1917442835ORPHA05753192602959
HP:0001257HP:0001264Spastic diplegia1EEF1A2 CL E G H1917442835ORPHA05753192602959
HP:0001257HP:0002464Spastic dysarthria1EEF1A2 CL E G H1917442835ORPHA05753192602959
HP:0001257HP:0002064Spastic gait1EEF1A2 CL E G H1917442835ORPHA05753192602959
HP:0001257HP:0011099Spastic hemiparesis1EEF1A2 CL E G H1917442835ORPHA05753192602959
HP:0001257HP:0001285Spastic tetraparesis1EEF1A2 CL E G H1917442835ORPHA05753192602959
HP:0001257HP:0002510Spastic tetraplegia1EEF1A2 CL E G H1917442835ORPHA05753192602959
HP:0001257HP:0002501Spasticity of pharyngeal muscles1EEF1A2 CL E G H1917442835ORPHA05753192602959
HP:0001257HP:0006986Upper limb spasticity1EEF1A2 CL E G H1917442835ORPHA05753192602959
HP:0001257HP:0002491Spasticity of facial muscles1EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM02083267300161
HP:0001257HP:0031866Clasp-knife sign1EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM02083267300161
HP:0001257HP:0002061Lower limb spasticity1EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM02083267300161
HP:0001257HP:0002179Opisthotonus1EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM02083267300161
HP:0001257HP:0002191Progressive spasticity1EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM02083267300161
HP:0001257HP:0001264Spastic diplegia1EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM02083267300161
HP:0001257HP:0002464Spastic dysarthria1EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM02083267300161
HP:0001257HP:0002064Spastic gait1EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM02083267300161
HP:0001257HP:0011099Spastic hemiparesis1EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM02083267300161
HP:0001257HP:0001285Spastic tetraparesis1EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM02083267300161
HP:0001257HP:0002510Spastic tetraplegia1EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM02083267300161
HP:0001257HP:0002501Spasticity of pharyngeal muscles1EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM02083267300161
HP:0001257HP:0006986Upper limb spasticity1EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM02083267300161
HP:0001257HP:0002491Spasticity of facial muscles1ELOVL4 CL E G H6785133190Erythrokeratodermia with ataxia133190C1851481OMIM029714415605512
HP:0001257HP:0031866Clasp-knife sign1ELOVL4 CL E G H6785133190Erythrokeratodermia with ataxia133190C1851481OMIM029714415605512
HP:0001257HP:0002061Lower limb spasticity1ELOVL4 CL E G H6785133190Erythrokeratodermia with ataxia133190C1851481OMIM029714415605512
HP:0001257HP:0002179Opisthotonus1ELOVL4 CL E G H6785133190Erythrokeratodermia with ataxia133190C1851481OMIM029714415605512
HP:0001257HP:0002191Progressive spasticity1ELOVL4 CL E G H6785133190Erythrokeratodermia with ataxia133190C1851481OMIM029714415605512
HP:0001257HP:0001264Spastic diplegia1ELOVL4 CL E G H6785133190Erythrokeratodermia with ataxia133190C1851481OMIM029714415605512
HP:0001257HP:0002464Spastic dysarthria1ELOVL4 CL E G H6785133190Erythrokeratodermia with ataxia133190C1851481OMIM029714415605512
HP:0001257HP:0002064Spastic gait1ELOVL4 CL E G H6785133190Erythrokeratodermia with ataxia133190C1851481OMIM029714415605512
HP:0001257HP:0011099Spastic hemiparesis1ELOVL4 CL E G H6785133190Erythrokeratodermia with ataxia133190C1851481OMIM029714415605512
HP:0001257HP:0001285Spastic tetraparesis1ELOVL4 CL E G H6785133190Erythrokeratodermia with ataxia133190C1851481OMIM029714415605512
HP:0001257HP:0002510Spastic tetraplegia1ELOVL4 CL E G H6785133190Erythrokeratodermia with ataxia133190C1851481OMIM029714415605512
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ELOVL4 CL E G H6785133190Erythrokeratodermia with ataxia133190C1851481OMIM029714415605512
HP:0001257HP:0006986Upper limb spasticity1ELOVL4 CL E G H6785133190Erythrokeratodermia with ataxia133190C1851481OMIM029714415605512
HP:0001257HP:0002491Spasticity of facial muscles1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA015723434126340
HP:0001257HP:0031866Clasp-knife sign1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA015723434126340
HP:0001257HP:0002061Lower limb spasticity1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA015723434126340
HP:0001257HP:0002179Opisthotonus1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA015723434126340
HP:0001257HP:0002191Progressive spasticity1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA015723434126340
HP:0001257HP:0001264Spastic diplegia1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA015723434126340
HP:0001257HP:0002464Spastic dysarthria1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA015723434126340
HP:0001257HP:0002064Spastic gait1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA015723434126340
HP:0001257HP:0011099Spastic hemiparesis1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA015723434126340
HP:0001257HP:0001285Spastic tetraparesis1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA015723434126340
HP:0001257HP:0002510Spastic tetraplegia1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA015723434126340
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA015723434126340
HP:0001257HP:0006986Upper limb spasticity1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA015723434126340
HP:0001257HP:0002491Spasticity of facial muscles1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA05233435133510
HP:0001257HP:0031866Clasp-knife sign1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA05233435133510
HP:0001257HP:0002061Lower limb spasticity1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA05233435133510
HP:0001257HP:0002179Opisthotonus1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA05233435133510
HP:0001257HP:0002191Progressive spasticity1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA05233435133510
HP:0001257HP:0001264Spastic diplegia1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA05233435133510
HP:0001257HP:0002464Spastic dysarthria1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA05233435133510
HP:0001257HP:0002064Spastic gait1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA05233435133510
HP:0001257HP:0011099Spastic hemiparesis1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA05233435133510
HP:0001257HP:0001285Spastic tetraparesis1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA05233435133510
HP:0001257HP:0002510Spastic tetraplegia1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA05233435133510
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA05233435133510
HP:0001257HP:0006986Upper limb spasticity1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA05233435133510
HP:0001257HP:0002491Spasticity of facial muscles1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA07263436133520
HP:0001257HP:0031866Clasp-knife sign1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA07263436133520
HP:0001257HP:0002061Lower limb spasticity1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA07263436133520
HP:0001257HP:0002179Opisthotonus1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA07263436133520
HP:0001257HP:0002191Progressive spasticity1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA07263436133520
HP:0001257HP:0001264Spastic diplegia1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA07263436133520
HP:0001257HP:0002464Spastic dysarthria1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA07263436133520
HP:0001257HP:0002064Spastic gait1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA07263436133520
HP:0001257HP:0011099Spastic hemiparesis1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA07263436133520
HP:0001257HP:0001285Spastic tetraparesis1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA07263436133520
HP:0001257HP:0002510Spastic tetraplegia1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA07263436133520
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA07263436133520
HP:0001257HP:0006986Upper limb spasticity1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA07263436133520
HP:0001257HP:0002491Spasticity of facial muscles1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA04913437133530
HP:0001257HP:0031866Clasp-knife sign1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA04913437133530
HP:0001257HP:0002061Lower limb spasticity1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA04913437133530
HP:0001257HP:0002179Opisthotonus1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA04913437133530
HP:0001257HP:0002191Progressive spasticity1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA04913437133530
HP:0001257HP:0001264Spastic diplegia1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA04913437133530
HP:0001257HP:0002464Spastic dysarthria1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA04913437133530
HP:0001257HP:0002064Spastic gait1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA04913437133530
HP:0001257HP:0011099Spastic hemiparesis1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA04913437133530
HP:0001257HP:0001285Spastic tetraparesis1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA04913437133530
HP:0001257HP:0002510Spastic tetraplegia1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA04913437133530
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA04913437133530
HP:0001257HP:0006986Upper limb spasticity1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA04913437133530
HP:0001257HP:0002491Spasticity of facial muscles1ERCC5 CL E G H2073278780Xeroderma pigmentosum, group G278780C0268141OMIM04913437133530
HP:0001257HP:0031866Clasp-knife sign1ERCC5 CL E G H2073278780Xeroderma pigmentosum, group G278780C0268141OMIM04913437133530
HP:0001257HP:0002061Lower limb spasticity1ERCC5 CL E G H2073278780Xeroderma pigmentosum, group G278780C0268141OMIM04913437133530
HP:0001257HP:0002179Opisthotonus1ERCC5 CL E G H2073278780Xeroderma pigmentosum, group G278780C0268141OMIM04913437133530
HP:0001257HP:0002191Progressive spasticity1ERCC5 CL E G H2073278780Xeroderma pigmentosum, group G278780C0268141OMIM04913437133530
HP:0001257HP:0001264Spastic diplegia1ERCC5 CL E G H2073278780Xeroderma pigmentosum, group G278780C0268141OMIM04913437133530
HP:0001257HP:0002464Spastic dysarthria1ERCC5 CL E G H2073278780Xeroderma pigmentosum, group G278780C0268141OMIM04913437133530
HP:0001257HP:0002064Spastic gait1ERCC5 CL E G H2073278780Xeroderma pigmentosum, group G278780C0268141OMIM04913437133530
HP:0001257HP:0011099Spastic hemiparesis1ERCC5 CL E G H2073278780Xeroderma pigmentosum, group G278780C0268141OMIM04913437133530
HP:0001257HP:0001285Spastic tetraparesis1ERCC5 CL E G H2073278780Xeroderma pigmentosum, group G278780C0268141OMIM04913437133530
HP:0001257HP:0002510Spastic tetraplegia1ERCC5 CL E G H2073278780Xeroderma pigmentosum, group G278780C0268141OMIM04913437133530
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ERCC5 CL E G H2073278780Xeroderma pigmentosum, group G278780C0268141OMIM04913437133530
HP:0001257HP:0006986Upper limb spasticity1ERCC5 CL E G H2073278780Xeroderma pigmentosum, group G278780C0268141OMIM04913437133530
HP:0001257HP:0002491Spasticity of facial muscles1ERLIN1 CL E G H10613615681Spastic paraplegia 62, autosomal recessive615681C4284588OMIM013616947611604
HP:0001257HP:0031866Clasp-knife sign1ERLIN1 CL E G H10613615681Spastic paraplegia 62, autosomal recessive615681C4284588OMIM013616947611604
HP:0001257HP:0002061Lower limb spasticity1ERLIN1 CL E G H10613615681Spastic paraplegia 62, autosomal recessive615681C4284588OMIM013616947611604
HP:0001257HP:0002179Opisthotonus1ERLIN1 CL E G H10613615681Spastic paraplegia 62, autosomal recessive615681C4284588OMIM013616947611604
HP:0001257HP:0002191Progressive spasticity1ERLIN1 CL E G H10613615681Spastic paraplegia 62, autosomal recessive615681C4284588OMIM013616947611604
HP:0001257HP:0001264Spastic diplegia1ERLIN1 CL E G H10613615681Spastic paraplegia 62, autosomal recessive615681C4284588OMIM013616947611604
HP:0001257HP:0002464Spastic dysarthria1ERLIN1 CL E G H10613615681Spastic paraplegia 62, autosomal recessive615681C4284588OMIM013616947611604
HP:0001257HP:0002064Spastic gait1ERLIN1 CL E G H10613615681Spastic paraplegia 62, autosomal recessive615681C4284588OMIM013616947611604
HP:0001257HP:0011099Spastic hemiparesis1ERLIN1 CL E G H10613615681Spastic paraplegia 62, autosomal recessive615681C4284588OMIM013616947611604
HP:0001257HP:0001285Spastic tetraparesis1ERLIN1 CL E G H10613615681Spastic paraplegia 62, autosomal recessive615681C4284588OMIM013616947611604
HP:0001257HP:0002510Spastic tetraplegia1ERLIN1 CL E G H10613615681Spastic paraplegia 62, autosomal recessive615681C4284588OMIM013616947611604
HP:0001257HP:0002501Spasticity of pharyngeal muscles1ERLIN1 CL E G H10613615681Spastic paraplegia 62, autosomal recessive615681C4284588OMIM013616947611604
HP:0001257HP:0006986Upper limb spasticity1ERLIN1 CL E G H10613615681Spastic paraplegia 62, autosomal recessive615681C4284588OMIM013616947611604
HP:0001257HP:0002491Spasticity of facial muscles1FGF12 CL E G H2257442835ORPHA02593668601513
HP:0001257HP:0031866Clasp-knife sign1FGF12 CL E G H2257442835ORPHA02593668601513
HP:0001257HP:0002061Lower limb spasticity1FGF12 CL E G H2257442835ORPHA02593668601513
HP:0001257HP:0002179Opisthotonus1FGF12 CL E G H2257442835ORPHA02593668601513
HP:0001257HP:0002191Progressive spasticity1FGF12 CL E G H2257442835ORPHA02593668601513
HP:0001257HP:0001264Spastic diplegia1FGF12 CL E G H2257442835ORPHA02593668601513
HP:0001257HP:0002464Spastic dysarthria1FGF12 CL E G H2257442835ORPHA02593668601513
HP:0001257HP:0002064Spastic gait1FGF12 CL E G H2257442835ORPHA02593668601513
HP:0001257HP:0011099Spastic hemiparesis1FGF12 CL E G H2257442835ORPHA02593668601513
HP:0001257HP:0001285Spastic tetraparesis1FGF12 CL E G H2257442835ORPHA02593668601513
HP:0001257HP:0002510Spastic tetraplegia1FGF12 CL E G H2257442835ORPHA02593668601513
HP:0001257HP:0002501Spasticity of pharyngeal muscles1FGF12 CL E G H2257442835ORPHA02593668601513
HP:0001257HP:0006986Upper limb spasticity1FGF12 CL E G H2257442835ORPHA02593668601513
HP:0001257HP:0002491Spasticity of facial muscles1FXN CL E G H239595ORPHA01583951606829
HP:0001257HP:0031866Clasp-knife sign1FXN CL E G H239595ORPHA01583951606829
HP:0001257HP:0002061Lower limb spasticity1FXN CL E G H239595ORPHA01583951606829
HP:0001257HP:0002179Opisthotonus1FXN CL E G H239595ORPHA01583951606829
HP:0001257HP:0002191Progressive spasticity1FXN CL E G H239595ORPHA01583951606829
HP:0001257HP:0001264Spastic diplegia1FXN CL E G H239595ORPHA01583951606829
HP:0001257HP:0002464Spastic dysarthria1FXN CL E G H239595ORPHA01583951606829
HP:0001257HP:0002064Spastic gait1FXN CL E G H239595ORPHA01583951606829
HP:0001257HP:0011099Spastic hemiparesis1FXN CL E G H239595ORPHA01583951606829
HP:0001257HP:0001285Spastic tetraparesis1FXN CL E G H239595ORPHA01583951606829
HP:0001257HP:0002510Spastic tetraplegia1FXN CL E G H239595ORPHA01583951606829
HP:0001257HP:0002501Spasticity of pharyngeal muscles1FXN CL E G H239595ORPHA01583951606829
HP:0001257HP:0006986Upper limb spasticity1FXN CL E G H239595ORPHA01583951606829
HP:0001257HP:0002491Spasticity of facial muscles1GABRB2 CL E G H2561442835ORPHA04944082600232
HP:0001257HP:0031866Clasp-knife sign1GABRB2 CL E G H2561442835ORPHA04944082600232
HP:0001257HP:0002061Lower limb spasticity1GABRB2 CL E G H2561442835ORPHA04944082600232
HP:0001257HP:0002179Opisthotonus1GABRB2 CL E G H2561442835ORPHA04944082600232
HP:0001257HP:0002191Progressive spasticity1GABRB2 CL E G H2561442835ORPHA04944082600232
HP:0001257HP:0001264Spastic diplegia1GABRB2 CL E G H2561442835ORPHA04944082600232
HP:0001257HP:0002464Spastic dysarthria1GABRB2 CL E G H2561442835ORPHA04944082600232
HP:0001257HP:0002064Spastic gait1GABRB2 CL E G H2561442835ORPHA04944082600232
HP:0001257HP:0011099Spastic hemiparesis1GABRB2 CL E G H2561442835ORPHA04944082600232
HP:0001257HP:0001285Spastic tetraparesis1GABRB2 CL E G H2561442835ORPHA04944082600232
HP:0001257HP:0002510Spastic tetraplegia1GABRB2 CL E G H2561442835ORPHA04944082600232
HP:0001257HP:0002501Spasticity of pharyngeal muscles1GABRB2 CL E G H2561442835ORPHA04944082600232
HP:0001257HP:0006986Upper limb spasticity1GABRB2 CL E G H2561442835ORPHA04944082600232
HP:0001257HP:0002491Spasticity of facial muscles1GRIN2D CL E G H2906442835ORPHA08234588602717
HP:0001257HP:0031866Clasp-knife sign1GRIN2D CL E G H2906442835ORPHA08234588602717
HP:0001257HP:0002061Lower limb spasticity1GRIN2D CL E G H2906442835ORPHA08234588602717
HP:0001257HP:0002179Opisthotonus1GRIN2D CL E G H2906442835ORPHA08234588602717
HP:0001257HP:0002191Progressive spasticity1GRIN2D CL E G H2906442835ORPHA08234588602717
HP:0001257HP:0001264Spastic diplegia1GRIN2D CL E G H2906442835ORPHA08234588602717
HP:0001257HP:0002464Spastic dysarthria1GRIN2D CL E G H2906442835ORPHA08234588602717
HP:0001257HP:0002064Spastic gait1GRIN2D CL E G H2906442835ORPHA08234588602717
HP:0001257HP:0011099Spastic hemiparesis1GRIN2D CL E G H2906442835ORPHA08234588602717
HP:0001257HP:0001285Spastic tetraparesis1GRIN2D CL E G H2906442835ORPHA08234588602717
HP:0001257HP:0002510Spastic tetraplegia1GRIN2D CL E G H2906442835ORPHA08234588602717
HP:0001257HP:0002501Spasticity of pharyngeal muscles1GRIN2D CL E G H2906442835ORPHA08234588602717
HP:0001257HP:0006986Upper limb spasticity1GRIN2D CL E G H2906442835ORPHA08234588602717
HP:0001257HP:0002491Spasticity of facial muscles1GRM1 CL E G H2911617691SPINOCEREBELLAR ATAXIA 44617691C4521563OMIM02984593604473
HP:0001257HP:0031866Clasp-knife sign1GRM1 CL E G H2911617691SPINOCEREBELLAR ATAXIA 44617691C4521563OMIM02984593604473
HP:0001257HP:0002061Lower limb spasticity1GRM1 CL E G H2911617691SPINOCEREBELLAR ATAXIA 44617691C4521563OMIM02984593604473
HP:0001257HP:0002179Opisthotonus1GRM1 CL E G H2911617691SPINOCEREBELLAR ATAXIA 44617691C4521563OMIM02984593604473
HP:0001257HP:0002191Progressive spasticity1GRM1 CL E G H2911617691SPINOCEREBELLAR ATAXIA 44617691C4521563OMIM02984593604473
HP:0001257HP:0001264Spastic diplegia1GRM1 CL E G H2911617691SPINOCEREBELLAR ATAXIA 44617691C4521563OMIM02984593604473
HP:0001257HP:0002464Spastic dysarthria1GRM1 CL E G H2911617691SPINOCEREBELLAR ATAXIA 44617691C4521563OMIM02984593604473
HP:0001257HP:0002064Spastic gait1GRM1 CL E G H2911617691SPINOCEREBELLAR ATAXIA 44617691C4521563OMIM02984593604473
HP:0001257HP:0011099Spastic hemiparesis1GRM1 CL E G H2911617691SPINOCEREBELLAR ATAXIA 44617691C4521563OMIM02984593604473
HP:0001257HP:0001285Spastic tetraparesis1GRM1 CL E G H2911617691SPINOCEREBELLAR ATAXIA 44617691C4521563OMIM02984593604473
HP:0001257HP:0002510Spastic tetraplegia1GRM1 CL E G H2911617691SPINOCEREBELLAR ATAXIA 44617691C4521563OMIM02984593604473
HP:0001257HP:0002501Spasticity of pharyngeal muscles1GRM1 CL E G H2911617691SPINOCEREBELLAR ATAXIA 44617691C4521563OMIM02984593604473
HP:0001257HP:0006986Upper limb spasticity1GRM1 CL E G H2911617691SPINOCEREBELLAR ATAXIA 44617691C4521563OMIM02984593604473
HP:0001257HP:0002491Spasticity of facial muscles1HCN1 CL E G H348980442835ORPHA07964845602780
HP:0001257HP:0031866Clasp-knife sign1HCN1 CL E G H348980442835ORPHA07964845602780
HP:0001257HP:0002061Lower limb spasticity1HCN1 CL E G H348980442835ORPHA07964845602780
HP:0001257HP:0002179Opisthotonus1HCN1 CL E G H348980442835ORPHA07964845602780
HP:0001257HP:0002191Progressive spasticity1HCN1 CL E G H348980442835ORPHA07964845602780
HP:0001257HP:0001264Spastic diplegia1HCN1 CL E G H348980442835ORPHA07964845602780
HP:0001257HP:0002464Spastic dysarthria1HCN1 CL E G H348980442835ORPHA07964845602780
HP:0001257HP:0002064Spastic gait1HCN1 CL E G H348980442835ORPHA07964845602780
HP:0001257HP:0011099Spastic hemiparesis1HCN1 CL E G H348980442835ORPHA07964845602780
HP:0001257HP:0001285Spastic tetraparesis1HCN1 CL E G H348980442835ORPHA07964845602780
HP:0001257HP:0002510Spastic tetraplegia1HCN1 CL E G H348980442835ORPHA07964845602780
HP:0001257HP:0002501Spasticity of pharyngeal muscles1HCN1 CL E G H348980442835ORPHA07964845602780
HP:0001257HP:0006986Upper limb spasticity1HCN1 CL E G H348980442835ORPHA07964845602780
HP:0001257HP:0002491Spasticity of facial muscles1IARS CL E G H3376617093Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy617093C4310720OMIM05330600709
HP:0001257HP:0031866Clasp-knife sign1IARS CL E G H3376617093Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy617093C4310720OMIM05330600709
HP:0001257HP:0002061Lower limb spasticity1IARS CL E G H3376617093Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy617093C4310720OMIM05330600709
HP:0001257HP:0002179Opisthotonus1IARS CL E G H3376617093Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy617093C4310720OMIM05330600709
HP:0001257HP:0002191Progressive spasticity1IARS CL E G H3376617093Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy617093C4310720OMIM05330600709
HP:0001257HP:0001264Spastic diplegia1IARS CL E G H3376617093Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy617093C4310720OMIM05330600709
HP:0001257HP:0002464Spastic dysarthria1IARS CL E G H3376617093Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy617093C4310720OMIM05330600709
HP:0001257HP:0002064Spastic gait1IARS CL E G H3376617093Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy617093C4310720OMIM05330600709
HP:0001257HP:0011099Spastic hemiparesis1IARS CL E G H3376617093Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy617093C4310720OMIM05330600709
HP:0001257HP:0001285Spastic tetraparesis1IARS CL E G H3376617093Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy617093C4310720OMIM05330600709
HP:0001257HP:0002510Spastic tetraplegia1IARS CL E G H3376617093Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy617093C4310720OMIM05330600709
HP:0001257HP:0002501Spasticity of pharyngeal muscles1IARS CL E G H3376617093Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy617093C4310720OMIM05330600709
HP:0001257HP:0006986Upper limb spasticity1IARS CL E G H3376617093Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy617093C4310720OMIM05330600709
HP:0001257HP:0002491Spasticity of facial muscles1IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA03875961300248
HP:0001257HP:0031866Clasp-knife sign1IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA03875961300248
HP:0001257HP:0002061Lower limb spasticity1IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA03875961300248
HP:0001257HP:0002179Opisthotonus1IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA03875961300248
HP:0001257HP:0002191Progressive spasticity1IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA03875961300248
HP:0001257HP:0001264Spastic diplegia1IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA03875961300248
HP:0001257HP:0002464Spastic dysarthria1IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA03875961300248
HP:0001257HP:0002064Spastic gait1IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA03875961300248
HP:0001257HP:0011099Spastic hemiparesis1IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA03875961300248
HP:0001257HP:0001285Spastic tetraparesis1IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA03875961300248
HP:0001257HP:0002510Spastic tetraplegia1IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA03875961300248
HP:0001257HP:0002501Spasticity of pharyngeal muscles1IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA03875961300248
HP:0001257HP:0006986Upper limb spasticity1IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA03875961300248
HP:0001257HP:0002491Spasticity of facial muscles1KATNB1 CL E G H10300616212Lissencephaly 6, with microcephaly616212C4015525OMIM03146217602703
HP:0001257HP:0031866Clasp-knife sign1KATNB1 CL E G H10300616212Lissencephaly 6, with microcephaly616212C4015525OMIM03146217602703
HP:0001257HP:0002061Lower limb spasticity1KATNB1 CL E G H10300616212Lissencephaly 6, with microcephaly616212C4015525OMIM03146217602703
HP:0001257HP:0002179Opisthotonus1KATNB1 CL E G H10300616212Lissencephaly 6, with microcephaly616212C4015525OMIM03146217602703
HP:0001257HP:0002191Progressive spasticity1KATNB1 CL E G H10300616212Lissencephaly 6, with microcephaly616212C4015525OMIM03146217602703
HP:0001257HP:0001264Spastic diplegia1KATNB1 CL E G H10300616212Lissencephaly 6, with microcephaly616212C4015525OMIM03146217602703
HP:0001257HP:0002464Spastic dysarthria1KATNB1 CL E G H10300616212Lissencephaly 6, with microcephaly616212C4015525OMIM03146217602703
HP:0001257HP:0002064Spastic gait1KATNB1 CL E G H10300616212Lissencephaly 6, with microcephaly616212C4015525OMIM03146217602703
HP:0001257HP:0011099Spastic hemiparesis1KATNB1 CL E G H10300616212Lissencephaly 6, with microcephaly616212C4015525OMIM03146217602703
HP:0001257HP:0001285Spastic tetraparesis1KATNB1 CL E G H10300616212Lissencephaly 6, with microcephaly616212C4015525OMIM03146217602703
HP:0001257HP:0002510Spastic tetraplegia1KATNB1 CL E G H10300616212Lissencephaly 6, with microcephaly616212C4015525OMIM03146217602703
HP:0001257HP:0002501Spasticity of pharyngeal muscles1KATNB1 CL E G H10300616212Lissencephaly 6, with microcephaly616212C4015525OMIM03146217602703
HP:0001257HP:0006986Upper limb spasticity1KATNB1 CL E G H10300616212Lissencephaly 6, with microcephaly616212C4015525OMIM03146217602703
HP:0001257HP:0002491Spasticity of facial muscles1KCNA2 CL E G H3737442835ORPHA04016220176262
HP:0001257HP:0031866Clasp-knife sign1KCNA2 CL E G H3737442835ORPHA04016220176262
HP:0001257HP:0002061Lower limb spasticity1KCNA2 CL E G H3737442835ORPHA04016220176262
HP:0001257HP:0002179Opisthotonus1KCNA2 CL E G H3737442835ORPHA04016220176262
HP:0001257HP:0002191Progressive spasticity1KCNA2 CL E G H3737442835ORPHA04016220176262
HP:0001257HP:0001264Spastic diplegia1KCNA2 CL E G H3737442835ORPHA04016220176262
HP:0001257HP:0002464Spastic dysarthria1KCNA2 CL E G H3737442835ORPHA04016220176262
HP:0001257HP:0002064Spastic gait1KCNA2 CL E G H3737442835ORPHA04016220176262
HP:0001257HP:0011099Spastic hemiparesis1KCNA2 CL E G H3737442835ORPHA04016220176262
HP:0001257HP:0001285Spastic tetraparesis1KCNA2 CL E G H3737442835ORPHA04016220176262
HP:0001257HP:0002510Spastic tetraplegia1KCNA2 CL E G H3737442835ORPHA04016220176262
HP:0001257HP:0002501Spasticity of pharyngeal muscles1KCNA2 CL E G H3737442835ORPHA04016220176262
HP:0001257HP:0006986Upper limb spasticity1KCNA2 CL E G H3737442835ORPHA04016220176262
HP:0001257HP:0002491Spasticity of facial muscles1KCNB1 CL E G H3745442835ORPHA06356231600397
HP:0001257HP:0031866Clasp-knife sign1KCNB1 CL E G H3745442835ORPHA06356231600397
HP:0001257HP:0002061Lower limb spasticity1KCNB1 CL E G H3745442835ORPHA06356231600397
HP:0001257HP:0002179Opisthotonus1KCNB1 CL E G H3745442835ORPHA06356231600397
HP:0001257HP:0002191Progressive spasticity1KCNB1 CL E G H3745442835ORPHA06356231600397
HP:0001257HP:0001264Spastic diplegia1KCNB1 CL E G H3745442835ORPHA06356231600397
HP:0001257HP:0002464Spastic dysarthria1KCNB1 CL E G H3745442835ORPHA06356231600397
HP:0001257HP:0002064Spastic gait1KCNB1 CL E G H3745442835ORPHA06356231600397
HP:0001257HP:0011099Spastic hemiparesis1KCNB1 CL E G H3745442835ORPHA06356231600397
HP:0001257HP:0001285Spastic tetraparesis1KCNB1 CL E G H3745442835ORPHA06356231600397
HP:0001257HP:0002510Spastic tetraplegia1KCNB1 CL E G H3745442835ORPHA06356231600397
HP:0001257HP:0002501Spasticity of pharyngeal muscles1KCNB1 CL E G H3745442835ORPHA06356231600397
HP:0001257HP:0006986Upper limb spasticity1KCNB1 CL E G H3745442835ORPHA06356231600397
HP:0001257HP:0002491Spasticity of facial muscles1KIF11 CL E G H38322526ORPHA07696388148760
HP:0001257HP:0031866Clasp-knife sign1KIF11 CL E G H38322526ORPHA07696388148760
HP:0001257HP:0002061Lower limb spasticity1KIF11 CL E G H38322526ORPHA07696388148760
HP:0001257HP:0002179Opisthotonus1KIF11 CL E G H38322526ORPHA07696388148760
HP:0001257HP:0002191Progressive spasticity1KIF11 CL E G H38322526ORPHA07696388148760
HP:0001257HP:0001264Spastic diplegia1KIF11 CL E G H38322526ORPHA07696388148760
HP:0001257HP:0002464Spastic dysarthria1KIF11 CL E G H38322526ORPHA07696388148760
HP:0001257HP:0002064Spastic gait1KIF11 CL E G H38322526ORPHA07696388148760
HP:0001257HP:0011099Spastic hemiparesis1KIF11 CL E G H38322526ORPHA07696388148760
HP:0001257HP:0001285Spastic tetraparesis1KIF11 CL E G H38322526ORPHA07696388148760
HP:0001257HP:0002510Spastic tetraplegia1KIF11 CL E G H38322526ORPHA07696388148760
HP:0001257HP:0002501Spasticity of pharyngeal muscles1KIF11 CL E G H38322526ORPHA07696388148760
HP:0001257HP:0006986Upper limb spasticity1KIF11 CL E G H38322526ORPHA07696388148760
HP:0001257HP:0002491Spasticity of facial muscles1KIF1A CL E G H547614255Mental retardation, autosomal dominant 9614255C3280283OMIM02622888601255
HP:0001257HP:0031866Clasp-knife sign1KIF1A CL E G H547614255Mental retardation, autosomal dominant 9614255C3280283OMIM02622888601255
HP:0001257HP:0002061Lower limb spasticity1KIF1A CL E G H547614255Mental retardation, autosomal dominant 9614255C3280283OMIM02622888601255
HP:0001257HP:0002179Opisthotonus1KIF1A CL E G H547614255Mental retardation, autosomal dominant 9614255C3280283OMIM02622888601255
HP:0001257HP:0002191Progressive spasticity1KIF1A CL E G H547614255Mental retardation, autosomal dominant 9614255C3280283OMIM02622888601255
HP:0001257HP:0001264Spastic diplegia1KIF1A CL E G H547614255Mental retardation, autosomal dominant 9614255C3280283OMIM02622888601255
HP:0001257HP:0002464Spastic dysarthria1KIF1A CL E G H547614255Mental retardation, autosomal dominant 9614255C3280283OMIM02622888601255
HP:0001257HP:0002064Spastic gait1KIF1A CL E G H547614255Mental retardation, autosomal dominant 9614255C3280283OMIM02622888601255
HP:0001257HP:0011099Spastic hemiparesis1KIF1A CL E G H547614255Mental retardation, autosomal dominant 9614255C3280283OMIM02622888601255
HP:0001257HP:0001285Spastic tetraparesis1KIF1A CL E G H547614255Mental retardation, autosomal dominant 9614255C3280283OMIM02622888601255
HP:0001257HP:0002510Spastic tetraplegia1KIF1A CL E G H547614255Mental retardation, autosomal dominant 9614255C3280283OMIM02622888601255
HP:0001257HP:0002501Spasticity of pharyngeal muscles1KIF1A CL E G H547614255Mental retardation, autosomal dominant 9614255C3280283OMIM02622888601255
HP:0001257HP:0006986Upper limb spasticity1KIF1A CL E G H547614255Mental retardation, autosomal dominant 9614255C3280283OMIM02622888601255
HP:0001257HP:0002491Spasticity of facial muscles1KMT2B CL E G H9757617284Dystonia 28, childhood-onset617284C4310633OMIM0130315840606834
HP:0001257HP:0031866Clasp-knife sign1KMT2B CL E G H9757617284Dystonia 28, childhood-onset617284C4310633OMIM0130315840606834
HP:0001257HP:0002061Lower limb spasticity1KMT2B CL E G H9757617284Dystonia 28, childhood-onset617284C4310633OMIM0130315840606834
HP:0001257HP:0002179Opisthotonus1KMT2B CL E G H9757617284Dystonia 28, childhood-onset617284C4310633OMIM0130315840606834
HP:0001257HP:0002191Progressive spasticity1KMT2B CL E G H9757617284Dystonia 28, childhood-onset617284C4310633OMIM0130315840606834
HP:0001257HP:0001264Spastic diplegia1KMT2B CL E G H9757617284Dystonia 28, childhood-onset617284C4310633OMIM0130315840606834
HP:0001257HP:0002464Spastic dysarthria1KMT2B CL E G H9757617284Dystonia 28, childhood-onset617284C4310633OMIM0130315840606834
HP:0001257HP:0002064Spastic gait1KMT2B CL E G H9757617284Dystonia 28, childhood-onset617284C4310633OMIM0130315840606834
HP:0001257HP:0011099Spastic hemiparesis1KMT2B CL E G H9757617284Dystonia 28, childhood-onset617284C4310633OMIM0130315840606834
HP:0001257HP:0001285Spastic tetraparesis1KMT2B CL E G H9757617284Dystonia 28, childhood-onset617284C4310633OMIM0130315840606834
HP:0001257HP:0002510Spastic tetraplegia1KMT2B CL E G H9757617284Dystonia 28, childhood-onset617284C4310633OMIM0130315840606834
HP:0001257HP:0002501Spasticity of pharyngeal muscles1KMT2B CL E G H9757617284Dystonia 28, childhood-onset617284C4310633OMIM0130315840606834
HP:0001257HP:0006986Upper limb spasticity1KMT2B CL E G H9757617284Dystonia 28, childhood-onset617284C4310633OMIM0130315840606834
HP:0001257HP:0002491Spasticity of facial muscles1LINGO1 CL E G H84894618103MENTAL RETARDATION, AUTOSOMAL RECESSIVE 64618103CN253431OMIM07821205609791
HP:0001257HP:0031866Clasp-knife sign1LINGO1 CL E G H84894618103MENTAL RETARDATION, AUTOSOMAL RECESSIVE 64618103CN253431OMIM07821205609791
HP:0001257HP:0002061Lower limb spasticity1LINGO1 CL E G H84894618103MENTAL RETARDATION, AUTOSOMAL RECESSIVE 64618103CN253431OMIM07821205609791
HP:0001257HP:0002179Opisthotonus1LINGO1 CL E G H84894618103MENTAL RETARDATION, AUTOSOMAL RECESSIVE 64618103CN253431OMIM07821205609791
HP:0001257HP:0002191Progressive spasticity1LINGO1 CL E G H84894618103MENTAL RETARDATION, AUTOSOMAL RECESSIVE 64618103CN253431OMIM07821205609791
HP:0001257HP:0001264Spastic diplegia1LINGO1 CL E G H84894618103MENTAL RETARDATION, AUTOSOMAL RECESSIVE 64618103CN253431OMIM07821205609791
HP:0001257HP:0002464Spastic dysarthria1LINGO1 CL E G H84894618103MENTAL RETARDATION, AUTOSOMAL RECESSIVE 64618103CN253431OMIM07821205609791
HP:0001257HP:0002064Spastic gait1LINGO1 CL E G H84894618103MENTAL RETARDATION, AUTOSOMAL RECESSIVE 64618103CN253431OMIM07821205609791
HP:0001257HP:0011099Spastic hemiparesis1LINGO1 CL E G H84894618103MENTAL RETARDATION, AUTOSOMAL RECESSIVE 64618103CN253431OMIM07821205609791
HP:0001257HP:0001285Spastic tetraparesis1LINGO1 CL E G H84894618103MENTAL RETARDATION, AUTOSOMAL RECESSIVE 64618103CN253431OMIM07821205609791
HP:0001257HP:0002510Spastic tetraplegia1LINGO1 CL E G H84894618103MENTAL RETARDATION, AUTOSOMAL RECESSIVE 64618103CN253431OMIM07821205609791
HP:0001257HP:0002501Spasticity of pharyngeal muscles1LINGO1 CL E G H84894618103MENTAL RETARDATION, AUTOSOMAL RECESSIVE 64618103CN253431OMIM07821205609791
HP:0001257HP:0006986Upper limb spasticity1LINGO1 CL E G H84894618103MENTAL RETARDATION, AUTOSOMAL RECESSIVE 64618103CN253431OMIM07821205609791
HP:0001257HP:0002491Spasticity of facial muscles1MCCC1 CL E G H569226Intellectual disability (mild)CN240508ORPHA07206936609010
HP:0001257HP:0031866Clasp-knife sign1MCCC1 CL E G H569226Intellectual disability (mild)CN240508ORPHA07206936609010
HP:0001257HP:0002061Lower limb spasticity1MCCC1 CL E G H569226Intellectual disability (mild)CN240508ORPHA07206936609010
HP:0001257HP:0002179Opisthotonus1MCCC1 CL E G H569226Intellectual disability (mild)CN240508ORPHA07206936609010
HP:0001257HP:0002191Progressive spasticity1MCCC1 CL E G H569226Intellectual disability (mild)CN240508ORPHA07206936609010
HP:0001257HP:0001264Spastic diplegia1MCCC1 CL E G H569226Intellectual disability (mild)CN240508ORPHA07206936609010
HP:0001257HP:0002464Spastic dysarthria1MCCC1 CL E G H569226Intellectual disability (mild)CN240508ORPHA07206936609010
HP:0001257HP:0002064Spastic gait1MCCC1 CL E G H569226Intellectual disability (mild)CN240508ORPHA07206936609010
HP:0001257HP:0011099Spastic hemiparesis1MCCC1 CL E G H569226Intellectual disability (mild)CN240508ORPHA07206936609010
HP:0001257HP:0001285Spastic tetraparesis1MCCC1 CL E G H569226Intellectual disability (mild)CN240508ORPHA07206936609010
HP:0001257HP:0002510Spastic tetraplegia1MCCC1 CL E G H569226Intellectual disability (mild)CN240508ORPHA07206936609010
HP:0001257HP:0002501Spasticity of pharyngeal muscles1MCCC1 CL E G H569226Intellectual disability (mild)CN240508ORPHA07206936609010
HP:0001257HP:0006986Upper limb spasticity1MCCC1 CL E G H569226Intellectual disability (mild)CN240508ORPHA07206936609010
HP:0001257HP:0002491Spasticity of facial muscles1MCCC2 CL E G H640876Intellectual disability (mild)CN240508ORPHA06446937609014
HP:0001257HP:0031866Clasp-knife sign1MCCC2 CL E G H640876Intellectual disability (mild)CN240508ORPHA06446937609014
HP:0001257HP:0002061Lower limb spasticity1MCCC2 CL E G H640876Intellectual disability (mild)CN240508ORPHA06446937609014
HP:0001257HP:0002179Opisthotonus1MCCC2 CL E G H640876Intellectual disability (mild)CN240508ORPHA06446937609014
HP:0001257HP:0002191Progressive spasticity1MCCC2 CL E G H640876Intellectual disability (mild)CN240508ORPHA06446937609014
HP:0001257HP:0001264Spastic diplegia1MCCC2 CL E G H640876Intellectual disability (mild)CN240508ORPHA06446937609014
HP:0001257HP:0002464Spastic dysarthria1MCCC2 CL E G H640876Intellectual disability (mild)CN240508ORPHA06446937609014
HP:0001257HP:0002064Spastic gait1MCCC2 CL E G H640876Intellectual disability (mild)CN240508ORPHA06446937609014
HP:0001257HP:0011099Spastic hemiparesis1MCCC2 CL E G H640876Intellectual disability (mild)CN240508ORPHA06446937609014
HP:0001257HP:0001285Spastic tetraparesis1MCCC2 CL E G H640876Intellectual disability (mild)CN240508ORPHA06446937609014
HP:0001257HP:0002510Spastic tetraplegia1MCCC2 CL E G H640876Intellectual disability (mild)CN240508ORPHA06446937609014
HP:0001257HP:0002501Spasticity of pharyngeal muscles1MCCC2 CL E G H640876Intellectual disability (mild)CN240508ORPHA06446937609014
HP:0001257HP:0006986Upper limb spasticity1MCCC2 CL E G H640876Intellectual disability (mild)CN240508ORPHA06446937609014
HP:0001257HP:0002491Spasticity of facial muscles1MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM015119691608205
HP:0001257HP:0031866Clasp-knife sign1MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM015119691608205
HP:0001257HP:0002061Lower limb spasticity1MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM015119691608205
HP:0001257HP:0002179Opisthotonus1MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM015119691608205
HP:0001257HP:0002191Progressive spasticity1MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM015119691608205
HP:0001257HP:0001264Spastic diplegia1MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM015119691608205
HP:0001257HP:0002464Spastic dysarthria1MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM015119691608205
HP:0001257HP:0002064Spastic gait1MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM015119691608205
HP:0001257HP:0011099Spastic hemiparesis1MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM015119691608205
HP:0001257HP:0001285Spastic tetraparesis1MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM015119691608205
HP:0001257HP:0002510Spastic tetraplegia1MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM015119691608205
HP:0001257HP:0002501Spasticity of pharyngeal muscles1MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM015119691608205
HP:0001257HP:0006986Upper limb spasticity1MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM015119691608205
HP:0001257HP:0002491Spasticity of facial muscles1MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM0122216877608507
HP:0001257HP:0031866Clasp-knife sign1MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM0122216877608507
HP:0001257HP:0002061Lower limb spasticity1MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM0122216877608507
HP:0001257HP:0002179Opisthotonus1MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM0122216877608507
HP:0001257HP:0002191Progressive spasticity1MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM0122216877608507
HP:0001257HP:0001264Spastic diplegia1MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM0122216877608507
HP:0001257HP:0002464Spastic dysarthria1MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM0122216877608507
HP:0001257HP:0002064Spastic gait1MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM0122216877608507
HP:0001257HP:0011099Spastic hemiparesis1MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM0122216877608507
HP:0001257HP:0001285Spastic tetraparesis1MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM0122216877608507
HP:0001257HP:0002510Spastic tetraplegia1MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM0122216877608507
HP:0001257HP:0002501Spasticity of pharyngeal muscles1MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM0122216877608507
HP:0001257HP:0006986Upper limb spasticity1MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM0122216877608507
HP:0001257HP:0002491Spasticity of facial muscles1MTO1 CL E G H25821614702Combined oxidative phosphorylation deficiency 10614702C3553529OMIM063819261614667
HP:0001257HP:0031866Clasp-knife sign1MTO1 CL E G H25821614702Combined oxidative phosphorylation deficiency 10614702C3553529OMIM063819261614667
HP:0001257HP:0002061Lower limb spasticity1MTO1 CL E G H25821614702Combined oxidative phosphorylation deficiency 10614702C3553529OMIM063819261614667
HP:0001257HP:0002179Opisthotonus1MTO1 CL E G H25821614702Combined oxidative phosphorylation deficiency 10614702C3553529OMIM063819261614667
HP:0001257HP:0002191Progressive spasticity1MTO1 CL E G H25821614702Combined oxidative phosphorylation deficiency 10614702C3553529OMIM063819261614667
HP:0001257HP:0001264Spastic diplegia1MTO1 CL E G H25821614702Combined oxidative phosphorylation deficiency 10614702C3553529OMIM063819261614667
HP:0001257HP:0002464Spastic dysarthria1MTO1 CL E G H25821614702Combined oxidative phosphorylation deficiency 10614702C3553529OMIM063819261614667
HP:0001257HP:0002064Spastic gait1MTO1 CL E G H25821614702Combined oxidative phosphorylation deficiency 10614702C3553529OMIM063819261614667
HP:0001257HP:0011099Spastic hemiparesis1MTO1 CL E G H25821614702Combined oxidative phosphorylation deficiency 10614702C3553529OMIM063819261614667
HP:0001257HP:0001285Spastic tetraparesis1MTO1 CL E G H25821614702Combined oxidative phosphorylation deficiency 10614702C3553529OMIM063819261614667
HP:0001257HP:0002510Spastic tetraplegia1MTO1 CL E G H25821614702Combined oxidative phosphorylation deficiency 10614702C3553529OMIM063819261614667
HP:0001257HP:0002501Spasticity of pharyngeal muscles1MTO1 CL E G H25821614702Combined oxidative phosphorylation deficiency 10614702C3553529OMIM063819261614667
HP:0001257HP:0006986Upper limb spasticity1MTO1 CL E G H25821614702Combined oxidative phosphorylation deficiency 10614702C3553529OMIM063819261614667
HP:0001257HP:0002491Spasticity of facial muscles1MYO5A CL E G H464433445ORPHA03377602160777
HP:0001257HP:0031866Clasp-knife sign1MYO5A CL E G H464433445ORPHA03377602160777
HP:0001257HP:0002061Lower limb spasticity1MYO5A CL E G H464433445ORPHA03377602160777
HP:0001257HP:0002179Opisthotonus1MYO5A CL E G H464433445ORPHA03377602160777
HP:0001257HP:0002191Progressive spasticity1MYO5A CL E G H464433445ORPHA03377602160777
HP:0001257HP:0001264Spastic diplegia1MYO5A CL E G H464433445ORPHA03377602160777
HP:0001257HP:0002464Spastic dysarthria1MYO5A CL E G H464433445ORPHA03377602160777
HP:0001257HP:0002064Spastic gait1MYO5A CL E G H464433445ORPHA03377602160777
HP:0001257HP:0011099Spastic hemiparesis1MYO5A CL E G H464433445ORPHA03377602160777
HP:0001257HP:0001285Spastic tetraparesis1MYO5A CL E G H464433445ORPHA03377602160777
HP:0001257HP:0002510Spastic tetraplegia1MYO5A CL E G H464433445ORPHA03377602160777
HP:0001257HP:0002501Spasticity of pharyngeal muscles1MYO5A CL E G H464433445ORPHA03377602160777
HP:0001257HP:0006986Upper limb spasticity1MYO5A CL E G H464433445ORPHA03377602160777
HP:0001257HP:0002491Spasticity of facial muscles1NECAP1 CL E G H25977442835ORPHA022124539611623
HP:0001257HP:0031866Clasp-knife sign1NECAP1 CL E G H25977442835ORPHA022124539611623
HP:0001257HP:0002061Lower limb spasticity1NECAP1 CL E G H25977442835ORPHA022124539611623
HP:0001257HP:0002179Opisthotonus1NECAP1 CL E G H25977442835ORPHA022124539611623
HP:0001257HP:0002191Progressive spasticity1NECAP1 CL E G H25977442835ORPHA022124539611623
HP:0001257HP:0001264Spastic diplegia1NECAP1 CL E G H25977442835ORPHA022124539611623
HP:0001257HP:0002464Spastic dysarthria1NECAP1 CL E G H25977442835ORPHA022124539611623
HP:0001257HP:0002064Spastic gait1NECAP1 CL E G H25977442835ORPHA022124539611623
HP:0001257HP:0011099Spastic hemiparesis1NECAP1 CL E G H25977442835ORPHA022124539611623
HP:0001257HP:0001285Spastic tetraparesis1NECAP1 CL E G H25977442835ORPHA022124539611623
HP:0001257HP:0002510Spastic tetraplegia1NECAP1 CL E G H25977442835ORPHA022124539611623
HP:0001257HP:0002501Spasticity of pharyngeal muscles1NECAP1 CL E G H25977442835ORPHA022124539611623
HP:0001257HP:0006986Upper limb spasticity1NECAP1 CL E G H25977442835ORPHA022124539611623
HP:0001257HP:0002491Spasticity of facial muscles1NEFL CL E G H4747617882CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G617882CN847583OMIM06147739162280
HP:0001257HP:0031866Clasp-knife sign1NEFL CL E G H4747617882CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G617882CN847583OMIM06147739162280
HP:0001257HP:0002061Lower limb spasticity1NEFL CL E G H4747617882CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G617882CN847583OMIM06147739162280
HP:0001257HP:0002179Opisthotonus1NEFL CL E G H4747617882CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G617882CN847583OMIM06147739162280
HP:0001257HP:0002191Progressive spasticity1NEFL CL E G H4747617882CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G617882CN847583OMIM06147739162280
HP:0001257HP:0001264Spastic diplegia1NEFL CL E G H4747617882CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G617882CN847583OMIM06147739162280
HP:0001257HP:0002464Spastic dysarthria1NEFL CL E G H4747617882CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G617882CN847583OMIM06147739162280
HP:0001257HP:0002064Spastic gait1NEFL CL E G H4747617882CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G617882CN847583OMIM06147739162280
HP:0001257HP:0011099Spastic hemiparesis1NEFL CL E G H4747617882CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G617882CN847583OMIM06147739162280
HP:0001257HP:0001285Spastic tetraparesis1NEFL CL E G H4747617882CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G617882CN847583OMIM06147739162280
HP:0001257HP:0002510Spastic tetraplegia1NEFL CL E G H4747617882CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G617882CN847583OMIM06147739162280
HP:0001257HP:0002501Spasticity of pharyngeal muscles1NEFL CL E G H4747617882CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G617882CN847583OMIM06147739162280
HP:0001257HP:0006986Upper limb spasticity1NEFL CL E G H4747617882CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G617882CN847583OMIM06147739162280
HP:0001257HP:0002491Spasticity of facial muscles1NTRK2 CL E G H4915442835ORPHA05098032600456
HP:0001257HP:0031866Clasp-knife sign1NTRK2 CL E G H4915442835ORPHA05098032600456
HP:0001257HP:0002061Lower limb spasticity1NTRK2 CL E G H4915442835ORPHA05098032600456
HP:0001257HP:0002179Opisthotonus1NTRK2 CL E G H4915442835ORPHA05098032600456
HP:0001257HP:0002191Progressive spasticity1NTRK2 CL E G H4915442835ORPHA05098032600456
HP:0001257HP:0001264Spastic diplegia1NTRK2 CL E G H4915442835ORPHA05098032600456
HP:0001257HP:0002464Spastic dysarthria1NTRK2 CL E G H4915442835ORPHA05098032600456
HP:0001257HP:0002064Spastic gait1NTRK2 CL E G H4915442835ORPHA05098032600456
HP:0001257HP:0011099Spastic hemiparesis1NTRK2 CL E G H4915442835ORPHA05098032600456
HP:0001257HP:0001285Spastic tetraparesis1NTRK2 CL E G H4915442835ORPHA05098032600456
HP:0001257HP:0002510Spastic tetraplegia1NTRK2 CL E G H4915442835ORPHA05098032600456
HP:0001257HP:0002501Spasticity of pharyngeal muscles1NTRK2 CL E G H4915442835ORPHA05098032600456
HP:0001257HP:0006986Upper limb spasticity1NTRK2 CL E G H4915442835ORPHA05098032600456
HP:0001257HP:0002491Spasticity of facial muscles1NUS1 CL E G H116150442835ORPHA032621042610463
HP:0001257HP:0031866Clasp-knife sign1NUS1 CL E G H116150442835ORPHA032621042610463
HP:0001257HP:0002061Lower limb spasticity1NUS1 CL E G H116150442835ORPHA032621042610463
HP:0001257HP:0002179Opisthotonus1NUS1 CL E G H116150442835ORPHA032621042610463
HP:0001257HP:0002191Progressive spasticity1NUS1 CL E G H116150442835ORPHA032621042610463
HP:0001257HP:0001264Spastic diplegia1NUS1 CL E G H116150442835ORPHA032621042610463
HP:0001257HP:0002464Spastic dysarthria1NUS1 CL E G H116150442835ORPHA032621042610463
HP:0001257HP:0002064Spastic gait1NUS1 CL E G H116150442835ORPHA032621042610463
HP:0001257HP:0011099Spastic hemiparesis1NUS1 CL E G H116150442835ORPHA032621042610463
HP:0001257HP:0001285Spastic tetraparesis1NUS1 CL E G H116150442835ORPHA032621042610463
HP:0001257HP:0002510Spastic tetraplegia1NUS1 CL E G H116150442835ORPHA032621042610463
HP:0001257HP:0002501Spasticity of pharyngeal muscles1NUS1 CL E G H116150442835ORPHA032621042610463
HP:0001257HP:0006986Upper limb spasticity1NUS1 CL E G H116150442835ORPHA032621042610463
HP:0001257HP:0002491Spasticity of facial muscles1OPA1 CL E G H4976125250Autosomal dominant optic atrophy plus syndrome125250C1852267OMIM012248140605290
HP:0001257HP:0031866Clasp-knife sign1OPA1 CL E G H4976125250Autosomal dominant optic atrophy plus syndrome125250C1852267OMIM012248140605290
HP:0001257HP:0002061Lower limb spasticity1OPA1 CL E G H4976125250Autosomal dominant optic atrophy plus syndrome125250C1852267OMIM012248140605290
HP:0001257HP:0002179Opisthotonus1OPA1 CL E G H4976125250Autosomal dominant optic atrophy plus syndrome125250C1852267OMIM012248140605290
HP:0001257HP:0002191Progressive spasticity1OPA1 CL E G H4976125250Autosomal dominant optic atrophy plus syndrome125250C1852267OMIM012248140605290
HP:0001257HP:0001264Spastic diplegia1OPA1 CL E G H4976125250Autosomal dominant optic atrophy plus syndrome125250C1852267OMIM012248140605290
HP:0001257HP:0002464Spastic dysarthria1OPA1 CL E G H4976125250Autosomal dominant optic atrophy plus syndrome125250C1852267OMIM012248140605290
HP:0001257HP:0002064Spastic gait1OPA1 CL E G H4976125250Autosomal dominant optic atrophy plus syndrome125250C1852267OMIM012248140605290
HP:0001257HP:0011099Spastic hemiparesis1OPA1 CL E G H4976125250Autosomal dominant optic atrophy plus syndrome125250C1852267OMIM012248140605290
HP:0001257HP:0001285Spastic tetraparesis1OPA1 CL E G H4976125250Autosomal dominant optic atrophy plus syndrome125250C1852267OMIM012248140605290
HP:0001257HP:0002510Spastic tetraplegia1OPA1 CL E G H4976125250Autosomal dominant optic atrophy plus syndrome125250C1852267OMIM012248140605290
HP:0001257HP:0002501Spasticity of pharyngeal muscles1OPA1 CL E G H4976125250Autosomal dominant optic atrophy plus syndrome125250C1852267OMIM012248140605290
HP:0001257HP:0006986Upper limb spasticity1OPA1 CL E G H4976125250Autosomal dominant optic atrophy plus syndrome125250C1852267OMIM012248140605290
HP:0001257HP:0002491Spasticity of facial muscles1PGAP1 CL E G H80055615802Mental retardation, autosomal recessive 42615802C4014343OMIM037925712611655
HP:0001257HP:0031866Clasp-knife sign1PGAP1 CL E G H80055615802Mental retardation, autosomal recessive 42615802C4014343OMIM037925712611655
HP:0001257HP:0002061Lower limb spasticity1PGAP1 CL E G H80055615802Mental retardation, autosomal recessive 42615802C4014343OMIM037925712611655
HP:0001257HP:0002179Opisthotonus1PGAP1 CL E G H80055615802Mental retardation, autosomal recessive 42615802C4014343OMIM037925712611655
HP:0001257HP:0002191Progressive spasticity1PGAP1 CL E G H80055615802Mental retardation, autosomal recessive 42615802C4014343OMIM037925712611655
HP:0001257HP:0001264Spastic diplegia1PGAP1 CL E G H80055615802Mental retardation, autosomal recessive 42615802C4014343OMIM037925712611655
HP:0001257HP:0002464Spastic dysarthria1PGAP1 CL E G H80055615802Mental retardation, autosomal recessive 42615802C4014343OMIM037925712611655
HP:0001257HP:0002064Spastic gait1PGAP1 CL E G H80055615802Mental retardation, autosomal recessive 42615802C4014343OMIM037925712611655
HP:0001257HP:0011099Spastic hemiparesis1PGAP1 CL E G H80055615802Mental retardation, autosomal recessive 42615802C4014343OMIM037925712611655
HP:0001257HP:0001285Spastic tetraparesis1PGAP1 CL E G H80055615802Mental retardation, autosomal recessive 42615802C4014343OMIM037925712611655
HP:0001257HP:0002510Spastic tetraplegia1PGAP1 CL E G H80055615802Mental retardation, autosomal recessive 42615802C4014343OMIM037925712611655
HP:0001257HP:0002501Spasticity of pharyngeal muscles1PGAP1 CL E G H80055615802Mental retardation, autosomal recessive 42615802C4014343OMIM037925712611655
HP:0001257HP:0006986Upper limb spasticity1PGAP1 CL E G H80055615802Mental retardation, autosomal recessive 42615802C4014343OMIM037925712611655
HP:0001257HP:0002491Spasticity of facial muscles1PNPLA6 CL E G H10908215470Boucher Neuhauser syndrome215470C1859093OMIM0121616268603197
HP:0001257HP:0031866Clasp-knife sign1PNPLA6 CL E G H10908215470Boucher Neuhauser syndrome215470C1859093OMIM0121616268603197
HP:0001257HP:0002061Lower limb spasticity1PNPLA6 CL E G H10908215470Boucher Neuhauser syndrome215470C1859093OMIM0121616268603197
HP:0001257HP:0002179Opisthotonus1PNPLA6 CL E G H10908215470Boucher Neuhauser syndrome215470C1859093OMIM0121616268603197
HP:0001257HP:0002191Progressive spasticity1PNPLA6 CL E G H10908215470Boucher Neuhauser syndrome215470C1859093OMIM0121616268603197
HP:0001257HP:0001264Spastic diplegia1PNPLA6 CL E G H10908215470Boucher Neuhauser syndrome215470C1859093OMIM0121616268603197
HP:0001257HP:0002464Spastic dysarthria1PNPLA6 CL E G H10908215470Boucher Neuhauser syndrome215470C1859093OMIM0121616268603197
HP:0001257HP:0002064Spastic gait1PNPLA6 CL E G H10908215470Boucher Neuhauser syndrome215470C1859093OMIM0121616268603197
HP:0001257HP:0011099Spastic hemiparesis1PNPLA6 CL E G H10908215470Boucher Neuhauser syndrome215470C1859093OMIM0121616268603197
HP:0001257HP:0001285Spastic tetraparesis1PNPLA6 CL E G H10908215470Boucher Neuhauser syndrome215470C1859093OMIM0121616268603197
HP:0001257HP:0002510Spastic tetraplegia1PNPLA6 CL E G H10908215470Boucher Neuhauser syndrome215470C1859093OMIM0121616268603197
HP:0001257HP:0002501Spasticity of pharyngeal muscles1PNPLA6 CL E G H10908215470Boucher Neuhauser syndrome215470C1859093OMIM0121616268603197
HP:0001257HP:0006986Upper limb spasticity1PNPLA6 CL E G H10908215470Boucher Neuhauser syndrome215470C1859093OMIM0121616268603197
HP:0001257HP:0002491Spasticity of facial muscles1POLR1C CL E G H9533616494Leukodystrophy, hypomyelinating, 11616494C4225305OMIM0194420194610060
HP:0001257HP:0031866Clasp-knife sign1POLR1C CL E G H9533616494Leukodystrophy, hypomyelinating, 11616494C4225305OMIM0194420194610060
HP:0001257HP:0002061Lower limb spasticity1POLR1C CL E G H9533616494Leukodystrophy, hypomyelinating, 11616494C4225305OMIM0194420194610060
HP:0001257HP:0002179Opisthotonus1POLR1C CL E G H9533616494Leukodystrophy, hypomyelinating, 11616494C4225305OMIM0194420194610060
HP:0001257HP:0002191Progressive spasticity1POLR1C CL E G H9533616494Leukodystrophy, hypomyelinating, 11616494C4225305OMIM0194420194610060
HP:0001257HP:0001264Spastic diplegia1POLR1C CL E G H9533616494Leukodystrophy, hypomyelinating, 11616494C4225305OMIM0194420194610060
HP:0001257HP:0002464Spastic dysarthria1POLR1C CL E G H9533616494Leukodystrophy, hypomyelinating, 11616494C4225305OMIM0194420194610060
HP:0001257HP:0002064Spastic gait1POLR1C CL E G H9533616494Leukodystrophy, hypomyelinating, 11616494C4225305OMIM0194420194610060
HP:0001257HP:0011099Spastic hemiparesis1POLR1C CL E G H9533616494Leukodystrophy, hypomyelinating, 11616494C4225305OMIM0194420194610060
HP:0001257HP:0001285Spastic tetraparesis1POLR1C CL E G H9533616494Leukodystrophy, hypomyelinating, 11616494C4225305OMIM0194420194610060
HP:0001257HP:0002510Spastic tetraplegia1POLR1C CL E G H9533616494Leukodystrophy, hypomyelinating, 11616494C4225305OMIM0194420194610060
HP:0001257HP:0002501Spasticity of pharyngeal muscles1POLR1C CL E G H9533616494Leukodystrophy, hypomyelinating, 11616494C4225305OMIM0194420194610060
HP:0001257HP:0006986Upper limb spasticity1POLR1C CL E G H9533616494Leukodystrophy, hypomyelinating, 11616494C4225305OMIM0194420194610060
HP:0001257HP:0002491Spasticity of facial muscles1PPP3CA CL E G H5530442835ORPHA03519314114105
HP:0001257HP:0031866Clasp-knife sign1PPP3CA CL E G H5530442835ORPHA03519314114105
HP:0001257HP:0002061Lower limb spasticity1PPP3CA CL E G H5530442835ORPHA03519314114105
HP:0001257HP:0002179Opisthotonus1PPP3CA CL E G H5530442835ORPHA03519314114105
HP:0001257HP:0002191Progressive spasticity1PPP3CA CL E G H5530442835ORPHA03519314114105
HP:0001257HP:0001264Spastic diplegia1PPP3CA CL E G H5530442835ORPHA03519314114105
HP:0001257HP:0002464Spastic dysarthria1PPP3CA CL E G H5530442835ORPHA03519314114105
HP:0001257HP:0002064Spastic gait1PPP3CA CL E G H5530442835ORPHA03519314114105
HP:0001257HP:0011099Spastic hemiparesis1PPP3CA CL E G H5530442835ORPHA03519314114105
HP:0001257HP:0001285Spastic tetraparesis1PPP3CA CL E G H5530442835ORPHA03519314114105
HP:0001257HP:0002510Spastic tetraplegia1PPP3CA CL E G H5530442835ORPHA03519314114105
HP:0001257HP:0002501Spasticity of pharyngeal muscles1PPP3CA CL E G H5530442835ORPHA03519314114105
HP:0001257HP:0006986Upper limb spasticity1PPP3CA CL E G H5530442835ORPHA03519314114105
HP:0001257HP:0002491Spasticity of facial muscles1PPP3CA CL E G H5530617711EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1617711C4540199OMIM03519314114105
HP:0001257HP:0031866Clasp-knife sign1PPP3CA CL E G H5530617711EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1617711C4540199OMIM03519314114105
HP:0001257HP:0002061Lower limb spasticity1PPP3CA CL E G H5530617711EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1617711C4540199OMIM03519314114105
HP:0001257HP:0002179Opisthotonus1PPP3CA CL E G H5530617711EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1617711C4540199OMIM03519314114105
HP:0001257HP:0002191Progressive spasticity1PPP3CA CL E G H5530617711EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1617711C4540199OMIM03519314114105
HP:0001257HP:0001264Spastic diplegia1PPP3CA CL E G H5530617711EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1617711C4540199OMIM03519314114105
HP:0001257HP:0002464Spastic dysarthria1PPP3CA CL E G H5530617711EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1617711C4540199OMIM03519314114105
HP:0001257HP:0002064Spastic gait1PPP3CA CL E G H5530617711EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1617711C4540199OMIM03519314114105
HP:0001257HP:0011099Spastic hemiparesis1PPP3CA CL E G H5530617711EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1617711C4540199OMIM03519314114105
HP:0001257HP:0001285Spastic tetraparesis1PPP3CA CL E G H5530617711EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1617711C4540199OMIM03519314114105
HP:0001257HP:0002510Spastic tetraplegia1PPP3CA CL E G H5530617711EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1617711C4540199OMIM03519314114105
HP:0001257HP:0002501Spasticity of pharyngeal muscles1PPP3CA CL E G H5530617711EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1617711C4540199OMIM03519314114105
HP:0001257HP:0006986Upper limb spasticity1PPP3CA CL E G H5530617711EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1617711C4540199OMIM03519314114105
HP:0001257HP:0002491Spasticity of facial muscles1PSAP CL E G H5660309256ORPHA07729498176801
HP:0001257HP:0031866Clasp-knife sign1PSAP CL E G H5660309256ORPHA07729498176801
HP:0001257HP:0002061Lower limb spasticity1PSAP CL E G H5660309256ORPHA07729498176801
HP:0001257HP:0002179Opisthotonus1PSAP CL E G H5660309256ORPHA07729498176801
HP:0001257HP:0002191Progressive spasticity1PSAP CL E G H5660309256ORPHA07729498176801
HP:0001257HP:0001264Spastic diplegia1PSAP CL E G H5660309256ORPHA07729498176801
HP:0001257HP:0002464Spastic dysarthria1PSAP CL E G H5660309256ORPHA07729498176801
HP:0001257HP:0002064Spastic gait1PSAP CL E G H5660309256ORPHA07729498176801
HP:0001257HP:0011099Spastic hemiparesis1PSAP CL E G H5660309256ORPHA07729498176801
HP:0001257HP:0001285Spastic tetraparesis1PSAP CL E G H5660309256ORPHA07729498176801
HP:0001257HP:0002510Spastic tetraplegia1PSAP CL E G H5660309256ORPHA07729498176801
HP:0001257HP:0002501Spasticity of pharyngeal muscles1PSAP CL E G H5660309256ORPHA07729498176801
HP:0001257HP:0006986Upper limb spasticity1PSAP CL E G H5660309256ORPHA07729498176801
HP:0001257HP:0002491Spasticity of facial muscles1PSAP CL E G H5660309263ORPHA07729498176801
HP:0001257HP:0031866Clasp-knife sign1PSAP CL E G H5660309263ORPHA07729498176801
HP:0001257HP:0002061Lower limb spasticity1PSAP CL E G H5660309263ORPHA07729498176801
HP:0001257HP:0002179Opisthotonus1PSAP CL E G H5660309263ORPHA07729498176801
HP:0001257HP:0002191Progressive spasticity1PSAP CL E G H5660309263ORPHA07729498176801
HP:0001257HP:0001264Spastic diplegia1PSAP CL E G H5660309263ORPHA07729498176801
HP:0001257HP:0002464Spastic dysarthria1PSAP CL E G H5660309263ORPHA07729498176801
HP:0001257HP:0002064Spastic gait1PSAP CL E G H5660309263ORPHA07729498176801
HP:0001257HP:0011099Spastic hemiparesis1PSAP CL E G H5660309263ORPHA07729498176801
HP:0001257HP:0001285Spastic tetraparesis1PSAP CL E G H5660309263ORPHA07729498176801
HP:0001257HP:0002510Spastic tetraplegia1PSAP CL E G H5660309263ORPHA07729498176801
HP:0001257HP:0002501Spasticity of pharyngeal muscles1PSAP CL E G H5660309263ORPHA07729498176801
HP:0001257HP:0006986Upper limb spasticity1PSAP CL E G H5660309263ORPHA07729498176801
HP:0001257HP:0002491Spasticity of facial muscles1RNASET2 CL E G H8635612951Leukoencephalopathy, cystic, without megalencephaly612951C2751843OMIM019921686612944
HP:0001257HP:0031866Clasp-knife sign1RNASET2 CL E G H8635612951Leukoencephalopathy, cystic, without megalencephaly612951C2751843OMIM019921686612944
HP:0001257HP:0002061Lower limb spasticity1RNASET2 CL E G H8635612951Leukoencephalopathy, cystic, without megalencephaly612951C2751843OMIM019921686612944
HP:0001257HP:0002179Opisthotonus1RNASET2 CL E G H8635612951Leukoencephalopathy, cystic, without megalencephaly612951C2751843OMIM019921686612944
HP:0001257HP:0002191Progressive spasticity1RNASET2 CL E G H8635612951Leukoencephalopathy, cystic, without megalencephaly612951C2751843OMIM019921686612944
HP:0001257HP:0001264Spastic diplegia1RNASET2 CL E G H8635612951Leukoencephalopathy, cystic, without megalencephaly612951C2751843OMIM019921686612944
HP:0001257HP:0002464Spastic dysarthria1RNASET2 CL E G H8635612951Leukoencephalopathy, cystic, without megalencephaly612951C2751843OMIM019921686612944
HP:0001257HP:0002064Spastic gait1RNASET2 CL E G H8635612951Leukoencephalopathy, cystic, without megalencephaly612951C2751843OMIM019921686612944
HP:0001257HP:0011099Spastic hemiparesis1RNASET2 CL E G H8635612951Leukoencephalopathy, cystic, without megalencephaly612951C2751843OMIM019921686612944
HP:0001257HP:0001285Spastic tetraparesis1RNASET2 CL E G H8635612951Leukoencephalopathy, cystic, without megalencephaly612951C2751843OMIM019921686612944
HP:0001257HP:0002510Spastic tetraplegia1RNASET2 CL E G H8635612951Leukoencephalopathy, cystic, without megalencephaly612951C2751843OMIM019921686612944
HP:0001257HP:0002501Spasticity of pharyngeal muscles1RNASET2 CL E G H8635612951Leukoencephalopathy, cystic, without megalencephaly612951C2751843OMIM019921686612944
HP:0001257HP:0006986Upper limb spasticity1RNASET2 CL E G H8635612951Leukoencephalopathy, cystic, without megalencephaly612951C2751843OMIM019921686612944
HP:0001257HP:0002491Spasticity of facial muscles1RTTN CL E G H25914614833Microcephaly, short stature, and polymicrogyria with or without seizures614833C3553831OMIM0120618654610436
HP:0001257HP:0031866Clasp-knife sign1RTTN CL E G H25914614833Microcephaly, short stature, and polymicrogyria with or without seizures614833C3553831OMIM0120618654610436
HP:0001257HP:0002061Lower limb spasticity1RTTN CL E G H25914614833Microcephaly, short stature, and polymicrogyria with or without seizures614833C3553831OMIM0120618654610436
HP:0001257HP:0002179Opisthotonus1RTTN CL E G H25914614833Microcephaly, short stature, and polymicrogyria with or without seizures614833C3553831OMIM0120618654610436
HP:0001257HP:0002191Progressive spasticity1RTTN CL E G H25914614833Microcephaly, short stature, and polymicrogyria with or without seizures614833C3553831OMIM0120618654610436
HP:0001257HP:0001264Spastic diplegia1RTTN CL E G H25914614833Microcephaly, short stature, and polymicrogyria with or without seizures614833C3553831OMIM0120618654610436
HP:0001257HP:0002464Spastic dysarthria1RTTN CL E G H25914614833Microcephaly, short stature, and polymicrogyria with or without seizures614833C3553831OMIM0120618654610436
HP:0001257HP:0002064Spastic gait1RTTN CL E G H25914614833Microcephaly, short stature, and polymicrogyria with or without seizures614833C3553831OMIM0120618654610436
HP:0001257HP:0011099Spastic hemiparesis1RTTN CL E G H25914614833Microcephaly, short stature, and polymicrogyria with or without seizures614833C3553831OMIM0120618654610436
HP:0001257HP:0001285Spastic tetraparesis1RTTN CL E G H25914614833Microcephaly, short stature, and polymicrogyria with or without seizures614833C3553831OMIM0120618654610436
HP:0001257HP:0002510Spastic tetraplegia1RTTN CL E G H25914614833Microcephaly, short stature, and polymicrogyria with or without seizures614833C3553831OMIM0120618654610436
HP:0001257HP:0002501Spasticity of pharyngeal muscles1RTTN CL E G H25914614833Microcephaly, short stature, and polymicrogyria with or without seizures614833C3553831OMIM0120618654610436
HP:0001257HP:0006986Upper limb spasticity1RTTN CL E G H25914614833Microcephaly, short stature, and polymicrogyria with or without seizures614833C3553831OMIM0120618654610436
HP:0001257HP:0002491Spasticity of facial muscles1SCN3A CL E G H6328442835ORPHA0142010590182391
HP:0001257HP:0031866Clasp-knife sign1SCN3A CL E G H6328442835ORPHA0142010590182391
HP:0001257HP:0002061Lower limb spasticity1SCN3A CL E G H6328442835ORPHA0142010590182391
HP:0001257HP:0002179Opisthotonus1SCN3A CL E G H6328442835ORPHA0142010590182391
HP:0001257HP:0002191Progressive spasticity1SCN3A CL E G H6328442835ORPHA0142010590182391
HP:0001257HP:0001264Spastic diplegia1SCN3A CL E G H6328442835ORPHA0142010590182391
HP:0001257HP:0002464Spastic dysarthria1SCN3A CL E G H6328442835ORPHA0142010590182391
HP:0001257HP:0002064Spastic gait1SCN3A CL E G H6328442835ORPHA0142010590182391
HP:0001257HP:0011099Spastic hemiparesis1SCN3A CL E G H6328442835ORPHA0142010590182391
HP:0001257HP:0001285Spastic tetraparesis1SCN3A CL E G H6328442835ORPHA0142010590182391
HP:0001257HP:0002510Spastic tetraplegia1SCN3A CL E G H6328442835ORPHA0142010590182391
HP:0001257HP:0002501Spasticity of pharyngeal muscles1SCN3A CL E G H6328442835ORPHA0142010590182391
HP:0001257HP:0006986Upper limb spasticity1SCN3A CL E G H6328442835ORPHA0142010590182391
HP:0001257HP:0002491Spasticity of facial muscles1SCN8A CL E G H6334442835ORPHA0179910596600702
HP:0001257HP:0031866Clasp-knife sign1SCN8A CL E G H6334442835ORPHA0179910596600702
HP:0001257HP:0002061Lower limb spasticity1SCN8A CL E G H6334442835ORPHA0179910596600702
HP:0001257HP:0002179Opisthotonus1SCN8A CL E G H6334442835ORPHA0179910596600702
HP:0001257HP:0002191Progressive spasticity1SCN8A CL E G H6334442835ORPHA0179910596600702
HP:0001257HP:0001264Spastic diplegia1SCN8A CL E G H6334442835ORPHA0179910596600702
HP:0001257HP:0002464Spastic dysarthria1SCN8A CL E G H6334442835ORPHA0179910596600702
HP:0001257HP:0002064Spastic gait1SCN8A CL E G H6334442835ORPHA0179910596600702
HP:0001257HP:0011099Spastic hemiparesis1SCN8A CL E G H6334442835ORPHA0179910596600702
HP:0001257HP:0001285Spastic tetraparesis1SCN8A CL E G H6334442835ORPHA0179910596600702
HP:0001257HP:0002510Spastic tetraplegia1SCN8A CL E G H6334442835ORPHA0179910596600702
HP:0001257HP:0002501Spasticity of pharyngeal muscles1SCN8A CL E G H6334442835ORPHA0179910596600702
HP:0001257HP:0006986Upper limb spasticity1SCN8A CL E G H6334442835ORPHA0179910596600702
HP:0001257HP:0002491Spasticity of facial muscles1SCYL1 CL E G H57410466794ORPHA012814372607982
HP:0001257HP:0031866Clasp-knife sign1SCYL1 CL E G H57410466794ORPHA012814372607982
HP:0001257HP:0002061Lower limb spasticity1SCYL1 CL E G H57410466794ORPHA012814372607982
HP:0001257HP:0002179Opisthotonus1SCYL1 CL E G H57410466794ORPHA012814372607982
HP:0001257HP:0002191Progressive spasticity1SCYL1 CL E G H57410466794ORPHA012814372607982
HP:0001257HP:0001264Spastic diplegia1SCYL1 CL E G H57410466794ORPHA012814372607982
HP:0001257HP:0002464Spastic dysarthria1SCYL1 CL E G H57410466794ORPHA012814372607982
HP:0001257HP:0002064Spastic gait1SCYL1 CL E G H57410466794ORPHA012814372607982
HP:0001257HP:0011099Spastic hemiparesis1SCYL1 CL E G H57410466794ORPHA012814372607982
HP:0001257HP:0001285Spastic tetraparesis1SCYL1 CL E G H57410466794ORPHA012814372607982
HP:0001257HP:0002510Spastic tetraplegia1SCYL1 CL E G H57410466794ORPHA012814372607982
HP:0001257HP:0002501Spasticity of pharyngeal muscles1SCYL1 CL E G H57410466794ORPHA012814372607982
HP:0001257HP:0006986Upper limb spasticity1SCYL1 CL E G H57410466794ORPHA012814372607982
HP:0001257HP:0002491Spasticity of facial muscles1SCYL1 CL E G H57410616719Spinocerebellar ataxia, autosomal recessive 21616719C4225236OMIM012814372607982
HP:0001257HP:0031866Clasp-knife sign1SCYL1 CL E G H57410616719Spinocerebellar ataxia, autosomal recessive 21616719C4225236OMIM012814372607982
HP:0001257HP:0002061Lower limb spasticity1SCYL1 CL E G H57410616719Spinocerebellar ataxia, autosomal recessive 21616719C4225236OMIM012814372607982
HP:0001257HP:0002179Opisthotonus1SCYL1 CL E G H57410616719Spinocerebellar ataxia, autosomal recessive 21616719C4225236OMIM012814372607982
HP:0001257HP:0002191Progressive spasticity1SCYL1 CL E G H57410616719Spinocerebellar ataxia, autosomal recessive 21616719C4225236OMIM012814372607982
HP:0001257HP:0001264Spastic diplegia1SCYL1 CL E G H57410616719Spinocerebellar ataxia, autosomal recessive 21616719C4225236OMIM012814372607982
HP:0001257HP:0002464Spastic dysarthria1SCYL1 CL E G H57410616719Spinocerebellar ataxia, autosomal recessive 21616719C4225236OMIM012814372607982
HP:0001257HP:0002064Spastic gait1SCYL1 CL E G H57410616719Spinocerebellar ataxia, autosomal recessive 21616719C4225236OMIM012814372607982
HP:0001257HP:0011099Spastic hemiparesis1SCYL1 CL E G H57410616719Spinocerebellar ataxia, autosomal recessive 21616719C4225236OMIM012814372607982
HP:0001257HP:0001285Spastic tetraparesis1SCYL1 CL E G H57410616719Spinocerebellar ataxia, autosomal recessive 21616719C4225236OMIM012814372607982
HP:0001257HP:0002510Spastic tetraplegia1SCYL1 CL E G H57410616719Spinocerebellar ataxia, autosomal recessive 21616719C4225236OMIM012814372607982
HP:0001257HP:0002501Spasticity of pharyngeal muscles1SCYL1 CL E G H57410616719Spinocerebellar ataxia, autosomal recessive 21616719C4225236OMIM012814372607982
HP:0001257HP:0006986Upper limb spasticity1SCYL1 CL E G H57410616719Spinocerebellar ataxia, autosomal recessive 21616719C4225236OMIM012814372607982
HP:0001257HP:0002491Spasticity of facial muscles1SETBP1 CL E G H26040798ORPHA0119015573611060
HP:0001257HP:0031866Clasp-knife sign1SETBP1 CL E G H26040798ORPHA0119015573611060
HP:0001257HP:0002061Lower limb spasticity1SETBP1 CL E G H26040798ORPHA0119015573611060
HP:0001257HP:0002179Opisthotonus1SETBP1 CL E G H26040798ORPHA0119015573611060
HP:0001257HP:0002191Progressive spasticity1SETBP1 CL E G H26040798ORPHA0119015573611060
HP:0001257HP:0001264Spastic diplegia1SETBP1 CL E G H26040798ORPHA0119015573611060
HP:0001257HP:0002464Spastic dysarthria1SETBP1 CL E G H26040798ORPHA0119015573611060
HP:0001257HP:0002064Spastic gait1SETBP1 CL E G H26040798ORPHA0119015573611060
HP:0001257HP:0011099Spastic hemiparesis1SETBP1 CL E G H26040798ORPHA0119015573611060
HP:0001257HP:0001285Spastic tetraparesis1SETBP1 CL E G H26040798ORPHA0119015573611060
HP:0001257HP:0002510Spastic tetraplegia1SETBP1 CL E G H26040798ORPHA0119015573611060
HP:0001257HP:0002501Spasticity of pharyngeal muscles1SETBP1 CL E G H26040798ORPHA0119015573611060
HP:0001257HP:0006986Upper limb spasticity1SETBP1 CL E G H26040798ORPHA0119015573611060
HP:0001257HP:0002491Spasticity of facial muscles1SLC13A5 CL E G H284111442835ORPHA068523089608305
HP:0001257HP:0031866Clasp-knife sign1SLC13A5 CL E G H284111442835ORPHA068523089608305
HP:0001257HP:0002061Lower limb spasticity1SLC13A5 CL E G H284111442835ORPHA068523089608305
HP:0001257HP:0002179Opisthotonus1SLC13A5 CL E G H284111442835ORPHA068523089608305
HP:0001257HP:0002191Progressive spasticity1SLC13A5 CL E G H284111442835ORPHA068523089608305
HP:0001257HP:0001264Spastic diplegia1SLC13A5 CL E G H284111442835ORPHA068523089608305
HP:0001257HP:0002464Spastic dysarthria1SLC13A5 CL E G H284111442835ORPHA068523089608305
HP:0001257HP:0002064Spastic gait1SLC13A5 CL E G H284111442835ORPHA068523089608305
HP:0001257HP:0011099Spastic hemiparesis1SLC13A5 CL E G H284111442835ORPHA068523089608305
HP:0001257HP:0001285Spastic tetraparesis1SLC13A5 CL E G H284111442835ORPHA068523089608305
HP:0001257HP:0002510Spastic tetraplegia1SLC13A5 CL E G H284111442835ORPHA068523089608305
HP:0001257HP:0002501Spasticity of pharyngeal muscles1SLC13A5 CL E G H284111442835ORPHA068523089608305
HP:0001257HP:0006986Upper limb spasticity1SLC13A5 CL E G H284111442835ORPHA068523089608305
HP:0001257HP:0002491Spasticity of facial muscles1SLC1A2 CL E G H6506442835ORPHA035910940600300
HP:0001257HP:0031866Clasp-knife sign1SLC1A2 CL E G H6506442835ORPHA035910940600300
HP:0001257HP:0002061Lower limb spasticity1SLC1A2 CL E G H6506442835ORPHA035910940600300
HP:0001257HP:0002179Opisthotonus1SLC1A2 CL E G H6506442835ORPHA035910940600300
HP:0001257HP:0002191Progressive spasticity1SLC1A2 CL E G H6506442835ORPHA035910940600300
HP:0001257HP:0001264Spastic diplegia1SLC1A2 CL E G H6506442835ORPHA035910940600300
HP:0001257HP:0002464Spastic dysarthria1SLC1A2 CL E G H6506442835ORPHA035910940600300
HP:0001257HP:0002064Spastic gait1SLC1A2 CL E G H6506442835ORPHA035910940600300
HP:0001257HP:0011099Spastic hemiparesis1SLC1A2 CL E G H6506442835ORPHA035910940600300
HP:0001257HP:0001285Spastic tetraparesis1SLC1A2 CL E G H6506442835ORPHA035910940600300
HP:0001257HP:0002510Spastic tetraplegia1SLC1A2 CL E G H6506442835ORPHA035910940600300
HP:0001257HP:0002501Spasticity of pharyngeal muscles1SLC1A2 CL E G H6506442835ORPHA035910940600300
HP:0001257HP:0006986Upper limb spasticity1SLC1A2 CL E G H6506442835ORPHA035910940600300
HP:0001257HP:0002491Spasticity of facial muscles1SLC1A2 CL E G H6506617105Epileptic encephalopathy, early infantile, 41617105C4310717OMIM035910940600300
HP:0001257HP:0031866Clasp-knife sign1SLC1A2 CL E G H6506617105Epileptic encephalopathy, early infantile, 41617105C4310717OMIM035910940600300
HP:0001257HP:0002061Lower limb spasticity1SLC1A2 CL E G H6506617105Epileptic encephalopathy, early infantile, 41617105C4310717OMIM035910940600300
HP:0001257HP:0002179Opisthotonus1SLC1A2 CL E G H6506617105Epileptic encephalopathy, early infantile, 41617105C4310717OMIM035910940600300
HP:0001257HP:0002191Progressive spasticity1SLC1A2 CL E G H6506617105Epileptic encephalopathy, early infantile, 41617105C4310717OMIM035910940600300
HP:0001257HP:0001264Spastic diplegia1SLC1A2 CL E G H6506617105Epileptic encephalopathy, early infantile, 41617105C4310717OMIM035910940600300
HP:0001257HP:0002464Spastic dysarthria1SLC1A2 CL E G H6506617105Epileptic encephalopathy, early infantile, 41617105C4310717OMIM035910940600300
HP:0001257HP:0002064Spastic gait1SLC1A2 CL E G H6506617105Epileptic encephalopathy, early infantile, 41617105C4310717OMIM035910940600300
HP:0001257HP:0011099Spastic hemiparesis1SLC1A2 CL E G H6506617105Epileptic encephalopathy, early infantile, 41617105C4310717OMIM035910940600300
HP:0001257HP:0001285Spastic tetraparesis1SLC1A2 CL E G H6506617105Epileptic encephalopathy, early infantile, 41617105C4310717OMIM035910940600300
HP:0001257HP:0002510Spastic tetraplegia1SLC1A2 CL E G H6506617105Epileptic encephalopathy, early infantile, 41617105C4310717OMIM035910940600300
HP:0001257HP:0002501Spasticity of pharyngeal muscles1SLC1A2 CL E G H6506617105Epileptic encephalopathy, early infantile, 41617105C4310717OMIM035910940600300
HP:0001257HP:0006986Upper limb spasticity1SLC1A2 CL E G H6506617105Epileptic encephalopathy, early infantile, 41617105C4310717OMIM035910940600300
HP:0001257HP:0002491Spasticity of facial muscles1SON CL E G H6651500150ORPHA0103111183182465
HP:0001257HP:0031866Clasp-knife sign1SON CL E G H6651500150ORPHA0103111183182465
HP:0001257HP:0002061Lower limb spasticity1SON CL E G H6651500150ORPHA0103111183182465
HP:0001257HP:0002179Opisthotonus1SON CL E G H6651500150ORPHA0103111183182465
HP:0001257HP:0002191Progressive spasticity1SON CL E G H6651500150ORPHA0103111183182465
HP:0001257HP:0001264Spastic diplegia1SON CL E G H6651500150ORPHA0103111183182465
HP:0001257HP:0002464Spastic dysarthria1SON CL E G H6651500150ORPHA0103111183182465
HP:0001257HP:0002064Spastic gait1SON CL E G H6651500150ORPHA0103111183182465
HP:0001257HP:0011099Spastic hemiparesis1SON CL E G H6651500150ORPHA0103111183182465
HP:0001257HP:0001285Spastic tetraparesis1SON CL E G H6651500150ORPHA0103111183182465
HP:0001257HP:0002510Spastic tetraplegia1SON CL E G H6651500150ORPHA0103111183182465
HP:0001257HP:0002501Spasticity of pharyngeal muscles1SON CL E G H6651500150ORPHA0103111183182465
HP:0001257HP:0006986Upper limb spasticity1SON CL E G H6651500150ORPHA0103111183182465
HP:0001257HP:0002491Spasticity of facial muscles1SPTBN2 CL E G H6712352403ORPHA093811276604985
HP:0001257HP:0031866Clasp-knife sign1SPTBN2 CL E G H6712352403ORPHA093811276604985
HP:0001257HP:0002061Lower limb spasticity1SPTBN2 CL E G H6712352403ORPHA093811276604985
HP:0001257HP:0002179Opisthotonus1SPTBN2 CL E G H6712352403ORPHA093811276604985
HP:0001257HP:0002191Progressive spasticity1SPTBN2 CL E G H6712352403ORPHA093811276604985
HP:0001257HP:0001264Spastic diplegia1SPTBN2 CL E G H6712352403ORPHA093811276604985
HP:0001257HP:0002464Spastic dysarthria1SPTBN2 CL E G H6712352403ORPHA093811276604985
HP:0001257HP:0002064Spastic gait1SPTBN2 CL E G H6712352403ORPHA093811276604985
HP:0001257HP:0011099Spastic hemiparesis1SPTBN2 CL E G H6712352403ORPHA093811276604985
HP:0001257HP:0001285Spastic tetraparesis1SPTBN2 CL E G H6712352403ORPHA093811276604985
HP:0001257HP:0002510Spastic tetraplegia1SPTBN2 CL E G H6712352403ORPHA093811276604985
HP:0001257HP:0002501Spasticity of pharyngeal muscles1SPTBN2 CL E G H6712352403ORPHA093811276604985
HP:0001257HP:0006986Upper limb spasticity1SPTBN2 CL E G H6712352403ORPHA093811276604985
HP:0001257HP:0002491Spasticity of facial muscles1SPTBN2 CL E G H6712615386Spinocerebellar ataxia, autosomal recessive 14615386C3809327OMIM093811276604985
HP:0001257HP:0031866Clasp-knife sign1SPTBN2 CL E G H6712615386Spinocerebellar ataxia, autosomal recessive 14615386C3809327OMIM093811276604985
HP:0001257HP:0002061Lower limb spasticity1SPTBN2 CL E G H6712615386Spinocerebellar ataxia, autosomal recessive 14615386C3809327OMIM093811276604985
HP:0001257HP:0002179Opisthotonus1SPTBN2 CL E G H6712615386Spinocerebellar ataxia, autosomal recessive 14615386C3809327OMIM093811276604985
HP:0001257HP:0002191Progressive spasticity1SPTBN2 CL E G H6712615386Spinocerebellar ataxia, autosomal recessive 14615386C3809327OMIM093811276604985
HP:0001257HP:0001264Spastic diplegia1SPTBN2 CL E G H6712615386Spinocerebellar ataxia, autosomal recessive 14615386C3809327OMIM093811276604985
HP:0001257HP:0002464Spastic dysarthria1SPTBN2 CL E G H6712615386Spinocerebellar ataxia, autosomal recessive 14615386C3809327OMIM093811276604985
HP:0001257HP:0002064Spastic gait1SPTBN2 CL E G H6712615386Spinocerebellar ataxia, autosomal recessive 14615386C3809327OMIM093811276604985
HP:0001257HP:0011099Spastic hemiparesis1SPTBN2 CL E G H6712615386Spinocerebellar ataxia, autosomal recessive 14615386C3809327OMIM093811276604985
HP:0001257HP:0001285Spastic tetraparesis1SPTBN2 CL E G H6712615386Spinocerebellar ataxia, autosomal recessive 14615386C3809327OMIM093811276604985
HP:0001257HP:0002510Spastic tetraplegia1SPTBN2 CL E G H6712615386Spinocerebellar ataxia, autosomal recessive 14615386C3809327OMIM093811276604985
HP:0001257HP:0002501Spasticity of pharyngeal muscles1SPTBN2 CL E G H6712615386Spinocerebellar ataxia, autosomal recessive 14615386C3809327OMIM093811276604985
HP:0001257HP:0006986Upper limb spasticity1SPTBN2 CL E G H6712615386Spinocerebellar ataxia, autosomal recessive 14615386C3809327OMIM093811276604985
HP:0001257HP:0002491Spasticity of facial muscles1STUB1 CL E G H10273615768Spinocerebellar ataxia, autosomal recessive 16615768C4014261OMIM022611427607207
HP:0001257HP:0031866Clasp-knife sign1STUB1 CL E G H10273615768Spinocerebellar ataxia, autosomal recessive 16615768C4014261OMIM022611427607207
HP:0001257HP:0002061Lower limb spasticity1STUB1 CL E G H10273615768Spinocerebellar ataxia, autosomal recessive 16615768C4014261OMIM022611427607207
HP:0001257HP:0002179Opisthotonus1STUB1 CL E G H10273615768Spinocerebellar ataxia, autosomal recessive 16615768C4014261OMIM022611427607207
HP:0001257HP:0002191Progressive spasticity1STUB1 CL E G H10273615768Spinocerebellar ataxia, autosomal recessive 16615768C4014261OMIM022611427607207
HP:0001257HP:0001264Spastic diplegia1STUB1 CL E G H10273615768Spinocerebellar ataxia, autosomal recessive 16615768C4014261OMIM022611427607207
HP:0001257HP:0002464Spastic dysarthria1STUB1 CL E G H10273615768Spinocerebellar ataxia, autosomal recessive 16615768C4014261OMIM022611427607207
HP:0001257HP:0002064Spastic gait1STUB1 CL E G H10273615768Spinocerebellar ataxia, autosomal recessive 16615768C4014261OMIM022611427607207
HP:0001257HP:0011099Spastic hemiparesis1STUB1 CL E G H10273615768Spinocerebellar ataxia, autosomal recessive 16615768C4014261OMIM022611427607207
HP:0001257HP:0001285Spastic tetraparesis1STUB1 CL E G H10273615768Spinocerebellar ataxia, autosomal recessive 16615768C4014261OMIM022611427607207
HP:0001257HP:0002510Spastic tetraplegia1STUB1 CL E G H10273615768Spinocerebellar ataxia, autosomal recessive 16615768C4014261OMIM022611427607207
HP:0001257HP:0002501Spasticity of pharyngeal muscles1STUB1 CL E G H10273615768Spinocerebellar ataxia, autosomal recessive 16615768C4014261OMIM022611427607207
HP:0001257HP:0006986Upper limb spasticity1STUB1 CL E G H10273615768Spinocerebellar ataxia, autosomal recessive 16615768C4014261OMIM022611427607207
HP:0001257HP:0002491Spasticity of facial muscles1STXBP1 CL E G H6812442835ORPHA0101711444602926
HP:0001257HP:0031866Clasp-knife sign1STXBP1 CL E G H6812442835ORPHA0101711444602926
HP:0001257HP:0002061Lower limb spasticity1STXBP1 CL E G H6812442835ORPHA0101711444602926
HP:0001257HP:0002179Opisthotonus1STXBP1 CL E G H6812442835ORPHA0101711444602926
HP:0001257HP:0002191Progressive spasticity1STXBP1 CL E G H6812442835ORPHA0101711444602926
HP:0001257HP:0001264Spastic diplegia1STXBP1 CL E G H6812442835ORPHA0101711444602926
HP:0001257HP:0002464Spastic dysarthria1STXBP1 CL E G H6812442835ORPHA0101711444602926
HP:0001257HP:0002064Spastic gait1STXBP1 CL E G H6812442835ORPHA0101711444602926
HP:0001257HP:0011099Spastic hemiparesis1STXBP1 CL E G H6812442835ORPHA0101711444602926
HP:0001257HP:0001285Spastic tetraparesis1STXBP1 CL E G H6812442835ORPHA0101711444602926
HP:0001257HP:0002510Spastic tetraplegia1STXBP1 CL E G H6812442835ORPHA0101711444602926
HP:0001257HP:0002501Spasticity of pharyngeal muscles1STXBP1 CL E G H6812442835ORPHA0101711444602926
HP:0001257HP:0006986Upper limb spasticity1STXBP1 CL E G H6812442835ORPHA0101711444602926
HP:0001257HP:0002491Spasticity of facial muscles1SYNGAP1 CL E G H8831442835ORPHA0133511497603384
HP:0001257HP:0031866Clasp-knife sign1SYNGAP1 CL E G H8831442835ORPHA0133511497603384
HP:0001257HP:0002061Lower limb spasticity1SYNGAP1 CL E G H8831442835ORPHA0133511497603384
HP:0001257HP:0002179Opisthotonus1SYNGAP1 CL E G H8831442835ORPHA0133511497603384
HP:0001257HP:0002191Progressive spasticity1SYNGAP1 CL E G H8831442835ORPHA0133511497603384
HP:0001257HP:0001264Spastic diplegia1SYNGAP1 CL E G H8831442835ORPHA0133511497603384
HP:0001257HP:0002464Spastic dysarthria1SYNGAP1 CL E G H8831442835ORPHA0133511497603384
HP:0001257HP:0002064Spastic gait1SYNGAP1 CL E G H8831442835ORPHA0133511497603384
HP:0001257HP:0011099Spastic hemiparesis1SYNGAP1 CL E G H8831442835ORPHA0133511497603384
HP:0001257HP:0001285Spastic tetraparesis1SYNGAP1 CL E G H8831442835ORPHA0133511497603384
HP:0001257HP:0002510Spastic tetraplegia1SYNGAP1 CL E G H8831442835ORPHA0133511497603384
HP:0001257HP:0002501Spasticity of pharyngeal muscles1SYNGAP1 CL E G H8831442835ORPHA0133511497603384
HP:0001257HP:0006986Upper limb spasticity1SYNGAP1 CL E G H8831442835ORPHA0133511497603384
HP:0001257HP:0002491Spasticity of facial muscles1SYNJ1 CL E G H8867442835ORPHA0131511503604297
HP:0001257HP:0031866Clasp-knife sign1SYNJ1 CL E G H8867442835ORPHA0131511503604297
HP:0001257HP:0002061Lower limb spasticity1SYNJ1 CL E G H8867442835ORPHA0131511503604297
HP:0001257HP:0002179Opisthotonus1SYNJ1 CL E G H8867442835ORPHA0131511503604297
HP:0001257HP:0002191Progressive spasticity1SYNJ1 CL E G H8867442835ORPHA0131511503604297
HP:0001257HP:0001264Spastic diplegia1SYNJ1 CL E G H8867442835ORPHA0131511503604297
HP:0001257HP:0002464Spastic dysarthria1SYNJ1 CL E G H8867442835ORPHA0131511503604297
HP:0001257HP:0002064Spastic gait1SYNJ1 CL E G H8867442835ORPHA0131511503604297
HP:0001257HP:0011099Spastic hemiparesis1SYNJ1 CL E G H8867442835ORPHA0131511503604297
HP:0001257HP:0001285Spastic tetraparesis1SYNJ1 CL E G H8867442835ORPHA0131511503604297
HP:0001257HP:0002510Spastic tetraplegia1SYNJ1 CL E G H8867442835ORPHA0131511503604297
HP:0001257HP:0002501Spasticity of pharyngeal muscles1SYNJ1 CL E G H8867442835ORPHA0131511503604297
HP:0001257HP:0006986Upper limb spasticity1SYNJ1 CL E G H8867442835ORPHA0131511503604297
HP:0001257HP:0002491Spasticity of facial muscles1SZT2 CL E G H23334442835ORPHA0286229040615463
HP:0001257HP:0031866Clasp-knife sign1SZT2 CL E G H23334442835ORPHA0286229040615463
HP:0001257HP:0002061Lower limb spasticity1SZT2 CL E G H23334442835ORPHA0286229040615463
HP:0001257HP:0002179Opisthotonus1SZT2 CL E G H23334442835ORPHA0286229040615463
HP:0001257HP:0002191Progressive spasticity1SZT2 CL E G H23334442835ORPHA0286229040615463
HP:0001257HP:0001264Spastic diplegia1SZT2 CL E G H23334442835ORPHA0286229040615463
HP:0001257HP:0002464Spastic dysarthria1SZT2 CL E G H23334442835ORPHA0286229040615463
HP:0001257HP:0002064Spastic gait1SZT2 CL E G H23334442835ORPHA0286229040615463
HP:0001257HP:0011099Spastic hemiparesis1SZT2 CL E G H23334442835ORPHA0286229040615463
HP:0001257HP:0001285Spastic tetraparesis1SZT2 CL E G H23334442835ORPHA0286229040615463
HP:0001257HP:0002510Spastic tetraplegia1SZT2 CL E G H23334442835ORPHA0286229040615463
HP:0001257HP:0002501Spasticity of pharyngeal muscles1SZT2 CL E G H23334442835ORPHA0286229040615463
HP:0001257HP:0006986Upper limb spasticity1SZT2 CL E G H23334442835ORPHA0286229040615463
HP:0001257HP:0002491Spasticity of facial muscles1TBC1D23 CL E G H55773617695PONTOCEREBELLAR HYPOPLASIA, TYPE 11617695C4540164OMIM09025622617687
HP:0001257HP:0031866Clasp-knife sign1TBC1D23 CL E G H55773617695PONTOCEREBELLAR HYPOPLASIA, TYPE 11617695C4540164OMIM09025622617687
HP:0001257HP:0002061Lower limb spasticity1TBC1D23 CL E G H55773617695PONTOCEREBELLAR HYPOPLASIA, TYPE 11617695C4540164OMIM09025622617687
HP:0001257HP:0002179Opisthotonus1TBC1D23 CL E G H55773617695PONTOCEREBELLAR HYPOPLASIA, TYPE 11617695C4540164OMIM09025622617687
HP:0001257HP:0002191Progressive spasticity1TBC1D23 CL E G H55773617695PONTOCEREBELLAR HYPOPLASIA, TYPE 11617695C4540164OMIM09025622617687
HP:0001257HP:0001264Spastic diplegia1TBC1D23 CL E G H55773617695PONTOCEREBELLAR HYPOPLASIA, TYPE 11617695C4540164OMIM09025622617687
HP:0001257HP:0002464Spastic dysarthria1TBC1D23 CL E G H55773617695PONTOCEREBELLAR HYPOPLASIA, TYPE 11617695C4540164OMIM09025622617687
HP:0001257HP:0002064Spastic gait1TBC1D23 CL E G H55773617695PONTOCEREBELLAR HYPOPLASIA, TYPE 11617695C4540164OMIM09025622617687
HP:0001257HP:0011099Spastic hemiparesis1TBC1D23 CL E G H55773617695PONTOCEREBELLAR HYPOPLASIA, TYPE 11617695C4540164OMIM09025622617687
HP:0001257HP:0001285Spastic tetraparesis1TBC1D23 CL E G H55773617695PONTOCEREBELLAR HYPOPLASIA, TYPE 11617695C4540164OMIM09025622617687
HP:0001257HP:0002510Spastic tetraplegia1TBC1D23 CL E G H55773617695PONTOCEREBELLAR HYPOPLASIA, TYPE 11617695C4540164OMIM09025622617687
HP:0001257HP:0002501Spasticity of pharyngeal muscles1TBC1D23 CL E G H55773617695PONTOCEREBELLAR HYPOPLASIA, TYPE 11617695C4540164OMIM09025622617687
HP:0001257HP:0006986Upper limb spasticity1TBC1D23 CL E G H55773617695PONTOCEREBELLAR HYPOPLASIA, TYPE 11617695C4540164OMIM09025622617687
HP:0001257HP:0002491Spasticity of facial muscles1TIMM50 CL E G H926096176983-METHYLGLUTACONIC ACIDURIA, TYPE IX617698C4540171OMIM035723656607381
HP:0001257HP:0031866Clasp-knife sign1TIMM50 CL E G H926096176983-METHYLGLUTACONIC ACIDURIA, TYPE IX617698C4540171OMIM035723656607381
HP:0001257HP:0002061Lower limb spasticity1TIMM50 CL E G H926096176983-METHYLGLUTACONIC ACIDURIA, TYPE IX617698C4540171OMIM035723656607381
HP:0001257HP:0002179Opisthotonus1TIMM50 CL E G H926096176983-METHYLGLUTACONIC ACIDURIA, TYPE IX617698C4540171OMIM035723656607381
HP:0001257HP:0002191Progressive spasticity1TIMM50 CL E G H926096176983-METHYLGLUTACONIC ACIDURIA, TYPE IX617698C4540171OMIM035723656607381
HP:0001257HP:0001264Spastic diplegia1TIMM50 CL E G H926096176983-METHYLGLUTACONIC ACIDURIA, TYPE IX617698C4540171OMIM035723656607381
HP:0001257HP:0002464Spastic dysarthria1TIMM50 CL E G H926096176983-METHYLGLUTACONIC ACIDURIA, TYPE IX617698C4540171OMIM035723656607381
HP:0001257HP:0002064Spastic gait1TIMM50 CL E G H926096176983-METHYLGLUTACONIC ACIDURIA, TYPE IX617698C4540171OMIM035723656607381
HP:0001257HP:0011099Spastic hemiparesis1TIMM50 CL E G H926096176983-METHYLGLUTACONIC ACIDURIA, TYPE IX617698C4540171OMIM035723656607381
HP:0001257HP:0001285Spastic tetraparesis1TIMM50 CL E G H926096176983-METHYLGLUTACONIC ACIDURIA, TYPE IX617698C4540171OMIM035723656607381
HP:0001257HP:0002510Spastic tetraplegia1TIMM50 CL E G H926096176983-METHYLGLUTACONIC ACIDURIA, TYPE IX617698C4540171OMIM035723656607381
HP:0001257HP:0002501Spasticity of pharyngeal muscles1TIMM50 CL E G H926096176983-METHYLGLUTACONIC ACIDURIA, TYPE IX617698C4540171OMIM035723656607381
HP:0001257HP:0006986Upper limb spasticity1TIMM50 CL E G H926096176983-METHYLGLUTACONIC ACIDURIA, TYPE IX617698C4540171OMIM035723656607381
HP:0001257HP:0002491Spasticity of facial muscles1TRAK1 CL E G H22906442835ORPHA020829947608112
HP:0001257HP:0031866Clasp-knife sign1TRAK1 CL E G H22906442835ORPHA020829947608112
HP:0001257HP:0002061Lower limb spasticity1TRAK1 CL E G H22906442835ORPHA020829947608112
HP:0001257HP:0002179Opisthotonus1TRAK1 CL E G H22906442835ORPHA020829947608112
HP:0001257HP:0002191Progressive spasticity1TRAK1 CL E G H22906442835ORPHA020829947608112
HP:0001257HP:0001264Spastic diplegia1TRAK1 CL E G H22906442835ORPHA020829947608112
HP:0001257HP:0002464Spastic dysarthria1TRAK1 CL E G H22906442835ORPHA020829947608112
HP:0001257HP:0002064Spastic gait1TRAK1 CL E G H22906442835ORPHA020829947608112
HP:0001257HP:0011099Spastic hemiparesis1TRAK1 CL E G H22906442835ORPHA020829947608112
HP:0001257HP:0001285Spastic tetraparesis1TRAK1 CL E G H22906442835ORPHA020829947608112
HP:0001257HP:0002510Spastic tetraplegia1TRAK1 CL E G H22906442835ORPHA020829947608112
HP:0001257HP:0002501Spasticity of pharyngeal muscles1TRAK1 CL E G H22906442835ORPHA020829947608112
HP:0001257HP:0006986Upper limb spasticity1TRAK1 CL E G H22906442835ORPHA020829947608112
HP:0001257HP:0002491Spasticity of facial muscles1TSEN15 CL E G H116461617026Pontocerebellar hypoplasia, type 2f617026C4310757OMIM06516791608756
HP:0001257HP:0031866Clasp-knife sign1TSEN15 CL E G H116461617026Pontocerebellar hypoplasia, type 2f617026C4310757OMIM06516791608756
HP:0001257HP:0002061Lower limb spasticity1TSEN15 CL E G H116461617026Pontocerebellar hypoplasia, type 2f617026C4310757OMIM06516791608756
HP:0001257HP:0002179Opisthotonus1TSEN15 CL E G H116461617026Pontocerebellar hypoplasia, type 2f617026C4310757OMIM06516791608756
HP:0001257HP:0002191Progressive spasticity1TSEN15 CL E G H116461617026Pontocerebellar hypoplasia, type 2f617026C4310757OMIM06516791608756
HP:0001257HP:0001264Spastic diplegia1TSEN15 CL E G H116461617026Pontocerebellar hypoplasia, type 2f617026C4310757OMIM06516791608756
HP:0001257HP:0002464Spastic dysarthria1TSEN15 CL E G H116461617026Pontocerebellar hypoplasia, type 2f617026C4310757OMIM06516791608756
HP:0001257HP:0002064Spastic gait1TSEN15 CL E G H116461617026Pontocerebellar hypoplasia, type 2f617026C4310757OMIM06516791608756
HP:0001257HP:0011099Spastic hemiparesis1TSEN15 CL E G H116461617026Pontocerebellar hypoplasia, type 2f617026C4310757OMIM06516791608756
HP:0001257HP:0001285Spastic tetraparesis1TSEN15 CL E G H116461617026Pontocerebellar hypoplasia, type 2f617026C4310757OMIM06516791608756
HP:0001257HP:0002510Spastic tetraplegia1TSEN15 CL E G H116461617026Pontocerebellar hypoplasia, type 2f617026C4310757OMIM06516791608756
HP:0001257HP:0002501Spasticity of pharyngeal muscles1TSEN15 CL E G H116461617026Pontocerebellar hypoplasia, type 2f617026C4310757OMIM06516791608756
HP:0001257HP:0006986Upper limb spasticity1TSEN15 CL E G H116461617026Pontocerebellar hypoplasia, type 2f617026C4310757OMIM06516791608756
HP:0001257HP:0002491Spasticity of facial muscles1UBA5 CL E G H79876442835ORPHA022323230610552
HP:0001257HP:0031866Clasp-knife sign1UBA5 CL E G H79876442835ORPHA022323230610552
HP:0001257HP:0002061Lower limb spasticity1UBA5 CL E G H79876442835ORPHA022323230610552
HP:0001257HP:0002179Opisthotonus1UBA5 CL E G H79876442835ORPHA022323230610552
HP:0001257HP:0002191Progressive spasticity1UBA5 CL E G H79876442835ORPHA022323230610552
HP:0001257HP:0001264Spastic diplegia1UBA5 CL E G H79876442835ORPHA022323230610552
HP:0001257HP:0002464Spastic dysarthria1UBA5 CL E G H79876442835ORPHA022323230610552
HP:0001257HP:0002064Spastic gait1UBA5 CL E G H79876442835ORPHA022323230610552
HP:0001257HP:0011099Spastic hemiparesis1UBA5 CL E G H79876442835ORPHA022323230610552
HP:0001257HP:0001285Spastic tetraparesis1UBA5 CL E G H79876442835ORPHA022323230610552
HP:0001257HP:0002510Spastic tetraplegia1UBA5 CL E G H79876442835ORPHA022323230610552
HP:0001257HP:0002501Spasticity of pharyngeal muscles1UBA5 CL E G H79876442835ORPHA022323230610552
HP:0001257HP:0006986Upper limb spasticity1UBA5 CL E G H79876442835ORPHA022323230610552
HP:0001257HP:0002491Spasticity of facial muscles1VPS13C CL E G H54832616840Parkinson disease 23, autosomal recessive early-onset616840C4225186OMIM082823594608879
HP:0001257HP:0031866Clasp-knife sign1VPS13C CL E G H54832616840Parkinson disease 23, autosomal recessive early-onset616840C4225186OMIM082823594608879
HP:0001257HP:0002061Lower limb spasticity1VPS13C CL E G H54832616840Parkinson disease 23, autosomal recessive early-onset616840C4225186OMIM082823594608879
HP:0001257HP:0002179Opisthotonus1VPS13C CL E G H54832616840Parkinson disease 23, autosomal recessive early-onset616840C4225186OMIM082823594608879
HP:0001257HP:0002191Progressive spasticity1VPS13C CL E G H54832616840Parkinson disease 23, autosomal recessive early-onset616840C4225186OMIM082823594608879
HP:0001257HP:0001264Spastic diplegia1VPS13C CL E G H54832616840Parkinson disease 23, autosomal recessive early-onset616840C4225186OMIM082823594608879
HP:0001257HP:0002464Spastic dysarthria1VPS13C CL E G H54832616840Parkinson disease 23, autosomal recessive early-onset616840C4225186OMIM082823594608879
HP:0001257HP:0002064Spastic gait1VPS13C CL E G H54832616840Parkinson disease 23, autosomal recessive early-onset616840C4225186OMIM082823594608879
HP:0001257HP:0011099Spastic hemiparesis1VPS13C CL E G H54832616840Parkinson disease 23, autosomal recessive early-onset616840C4225186OMIM082823594608879
HP:0001257HP:0001285Spastic tetraparesis1VPS13C CL E G H54832616840Parkinson disease 23, autosomal recessive early-onset616840C4225186OMIM082823594608879
HP:0001257HP:0002510Spastic tetraplegia1VPS13C CL E G H54832616840Parkinson disease 23, autosomal recessive early-onset616840C4225186OMIM082823594608879
HP:0001257HP:0002501Spasticity of pharyngeal muscles1VPS13C CL E G H54832616840Parkinson disease 23, autosomal recessive early-onset616840C4225186OMIM082823594608879
HP:0001257HP:0006986Upper limb spasticity1VPS13C CL E G H54832616840Parkinson disease 23, autosomal recessive early-onset616840C4225186OMIM082823594608879
HP:0001257HP:0002491Spasticity of facial muscles1WASHC4 CL E G H23325615817Mental retardation, autosomal recessive 43615817C4014386OMIM011229174615748
HP:0001257HP:0031866Clasp-knife sign1WASHC4 CL E G H23325615817Mental retardation, autosomal recessive 43615817C4014386OMIM011229174615748
HP:0001257HP:0002061Lower limb spasticity1WASHC4 CL E G H23325615817Mental retardation, autosomal recessive 43615817C4014386OMIM011229174615748
HP:0001257HP:0002179Opisthotonus1WASHC4 CL E G H23325615817Mental retardation, autosomal recessive 43615817C4014386OMIM011229174615748
HP:0001257HP:0002191Progressive spasticity1WASHC4 CL E G H23325615817Mental retardation, autosomal recessive 43615817C4014386OMIM011229174615748
HP:0001257HP:0001264Spastic diplegia1WASHC4 CL E G H23325615817Mental retardation, autosomal recessive 43615817C4014386OMIM011229174615748
HP:0001257HP:0002464Spastic dysarthria1WASHC4 CL E G H23325615817Mental retardation, autosomal recessive 43615817C4014386OMIM011229174615748
HP:0001257HP:0002064Spastic gait1WASHC4 CL E G H23325615817Mental retardation, autosomal recessive 43615817C4014386OMIM011229174615748
HP:0001257HP:0011099Spastic hemiparesis1WASHC4 CL E G H23325615817Mental retardation, autosomal recessive 43615817C4014386OMIM011229174615748
HP:0001257HP:0001285Spastic tetraparesis1WASHC4 CL E G H23325615817Mental retardation, autosomal recessive 43615817C4014386OMIM011229174615748
HP:0001257HP:0002510Spastic tetraplegia1WASHC4 CL E G H23325615817Mental retardation, autosomal recessive 43615817C4014386OMIM011229174615748
HP:0001257HP:0002501Spasticity of pharyngeal muscles1WASHC4 CL E G H23325615817Mental retardation, autosomal recessive 43615817C4014386OMIM011229174615748
HP:0001257HP:0006986Upper limb spasticity1WASHC4 CL E G H23325615817Mental retardation, autosomal recessive 43615817C4014386OMIM011229174615748
HP:0001257HP:0002491Spasticity of facial muscles1WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM022025928616144
HP:0001257HP:0031866Clasp-knife sign1WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM022025928616144
HP:0001257HP:0002061Lower limb spasticity1WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM022025928616144
HP:0001257HP:0002179Opisthotonus1WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM022025928616144
HP:0001257HP:0002191Progressive spasticity1WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM022025928616144
HP:0001257HP:0001264Spastic diplegia1WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM022025928616144
HP:0001257HP:0002464Spastic dysarthria1WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM022025928616144
HP:0001257HP:0002064Spastic gait1WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM022025928616144
HP:0001257HP:0011099Spastic hemiparesis1WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM022025928616144
HP:0001257HP:0001285Spastic tetraparesis1WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM022025928616144
HP:0001257HP:0002510Spastic tetraplegia1WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM022025928616144
HP:0001257HP:0002501Spasticity of pharyngeal muscles1WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM022025928616144
HP:0001257HP:0006986Upper limb spasticity1WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM022025928616144
HP:0001257HP:0002491Spasticity of facial muscles1WWOX CL E G H51741442835ORPHA0110212799605131
HP:0001257HP:0031866Clasp-knife sign1WWOX CL E G H51741442835ORPHA0110212799605131
HP:0001257HP:0002061Lower limb spasticity1WWOX CL E G H51741442835ORPHA0110212799605131
HP:0001257HP:0002179Opisthotonus1WWOX CL E G H51741442835ORPHA0110212799605131
HP:0001257HP:0002191Progressive spasticity1WWOX CL E G H51741442835ORPHA0110212799605131
HP:0001257HP:0001264Spastic diplegia1WWOX CL E G H51741442835ORPHA0110212799605131
HP:0001257HP:0002464Spastic dysarthria1WWOX CL E G H51741442835ORPHA0110212799605131
HP:0001257HP:0002064Spastic gait1WWOX CL E G H51741442835ORPHA0110212799605131
HP:0001257HP:0011099Spastic hemiparesis1WWOX CL E G H51741442835ORPHA0110212799605131
HP:0001257HP:0001285Spastic tetraparesis1WWOX CL E G H51741442835ORPHA0110212799605131
HP:0001257HP:0002510Spastic tetraplegia1WWOX CL E G H51741442835ORPHA0110212799605131
HP:0001257HP:0002501Spasticity of pharyngeal muscles1WWOX CL E G H51741442835ORPHA0110212799605131
HP:0001257HP:0006986Upper limb spasticity1WWOX CL E G H51741442835ORPHA0110212799605131
HP:0001257HP:0002491Spasticity of facial muscles1WWOX CL E G H51741614322Spinocerebellar ataxia, autosomal recessive 12614322C3280452OMIM0110212799605131
HP:0001257HP:0031866Clasp-knife sign1WWOX CL E G H51741614322Spinocerebellar ataxia, autosomal recessive 12614322C3280452OMIM0110212799605131
HP:0001257HP:0002061Lower limb spasticity1WWOX CL E G H51741614322Spinocerebellar ataxia, autosomal recessive 12614322C3280452OMIM0110212799605131
HP:0001257HP:0002179Opisthotonus1WWOX CL E G H51741614322Spinocerebellar ataxia, autosomal recessive 12614322C3280452OMIM0110212799605131
HP:0001257HP:0002191Progressive spasticity1WWOX CL E G H51741614322Spinocerebellar ataxia, autosomal recessive 12614322C3280452OMIM0110212799605131
HP:0001257HP:0001264Spastic diplegia1WWOX CL E G H51741614322Spinocerebellar ataxia, autosomal recessive 12614322C3280452OMIM0110212799605131
HP:0001257HP:0002464Spastic dysarthria1WWOX CL E G H51741614322Spinocerebellar ataxia, autosomal recessive 12614322C3280452OMIM0110212799605131
HP:0001257HP:0002064Spastic gait1WWOX CL E G H51741614322Spinocerebellar ataxia, autosomal recessive 12614322C3280452OMIM0110212799605131
HP:0001257HP:0011099Spastic hemiparesis1WWOX CL E G H51741614322Spinocerebellar ataxia, autosomal recessive 12614322C3280452OMIM0110212799605131
HP:0001257HP:0001285Spastic tetraparesis1WWOX CL E G H51741614322Spinocerebellar ataxia, autosomal recessive 12614322C3280452OMIM0110212799605131
HP:0001257HP:0002510Spastic tetraplegia1WWOX CL E G H51741614322Spinocerebellar ataxia, autosomal recessive 12614322C3280452OMIM0110212799605131
HP:0001257HP:0002501Spasticity of pharyngeal muscles1WWOX CL E G H51741614322Spinocerebellar ataxia, autosomal recessive 12614322C3280452OMIM0110212799605131
HP:0001257HP:0006986Upper limb spasticity1WWOX CL E G H51741614322Spinocerebellar ataxia, autosomal recessive 12614322C3280452OMIM0110212799605131
HP:0001257HP:0002491Spasticity of facial muscles1XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA032112814611153
HP:0001257HP:0031866Clasp-knife sign1XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA032112814611153
HP:0001257HP:0002061Lower limb spasticity1XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA032112814611153
HP:0001257HP:0002179Opisthotonus1XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA032112814611153
HP:0001257HP:0002191Progressive spasticity1XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA032112814611153
HP:0001257HP:0001264Spastic diplegia1XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA032112814611153
HP:0001257HP:0002464Spastic dysarthria1XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA032112814611153
HP:0001257HP:0002064Spastic gait1XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA032112814611153
HP:0001257HP:0011099Spastic hemiparesis1XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA032112814611153
HP:0001257HP:0001285Spastic tetraparesis1XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA032112814611153
HP:0001257HP:0002510Spastic tetraplegia1XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA032112814611153
HP:0001257HP:0002501Spasticity of pharyngeal muscles1XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA032112814611153
HP:0001257HP:0006986Upper limb spasticity1XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA032112814611153
HP:0001257HP:0002491Spasticity of facial muscles1XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA078812816613208
HP:0001257HP:0031866Clasp-knife sign1XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA078812816613208
HP:0001257HP:0002061Lower limb spasticity1XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA078812816613208
HP:0001257HP:0002179Opisthotonus1XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA078812816613208
HP:0001257HP:0002191Progressive spasticity1XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA078812816613208
HP:0001257HP:0001264Spastic diplegia1XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA078812816613208
HP:0001257HP:0002464Spastic dysarthria1XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA078812816613208
HP:0001257HP:0002064Spastic gait1XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA078812816613208
HP:0001257HP:0011099Spastic hemiparesis1XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA078812816613208
HP:0001257HP:0001285Spastic tetraparesis1XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA078812816613208
HP:0001257HP:0002510Spastic tetraplegia1XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA078812816613208
HP:0001257HP:0002501Spasticity of pharyngeal muscles1XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA078812816613208
HP:0001257HP:0006986Upper limb spasticity1XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA078812816613208
HP:0001257HP:0002491Spasticity of facial muscles1YWHAG CL E G H7532442835ORPHA018912852605356
HP:0001257HP:0031866Clasp-knife sign1YWHAG CL E G H7532442835ORPHA018912852605356
HP:0001257HP:0002061Lower limb spasticity1YWHAG CL E G H7532442835ORPHA018912852605356
HP:0001257HP:0002179Opisthotonus1YWHAG CL E G H7532442835ORPHA018912852605356
HP:0001257HP:0002191Progressive spasticity1YWHAG CL E G H7532442835ORPHA018912852605356
HP:0001257HP:0001264Spastic diplegia1YWHAG CL E G H7532442835ORPHA018912852605356
HP:0001257HP:0002464Spastic dysarthria1YWHAG CL E G H7532442835ORPHA018912852605356
HP:0001257HP:0002064Spastic gait1YWHAG CL E G H7532442835ORPHA018912852605356
HP:0001257HP:0011099Spastic hemiparesis1YWHAG CL E G H7532442835ORPHA018912852605356
HP:0001257HP:0001285Spastic tetraparesis1YWHAG CL E G H7532442835ORPHA018912852605356
HP:0001257HP:0002510Spastic tetraplegia1YWHAG CL E G H7532442835ORPHA018912852605356
HP:0001257HP:0002501Spasticity of pharyngeal muscles1YWHAG CL E G H7532442835ORPHA018912852605356
HP:0001257HP:0006986Upper limb spasticity1YWHAG CL E G H7532442835ORPHA018912852605356
HP:0001257HP:0002313Spastic paraparesis2AARS CL E G H16442835ORPHA020601065
HP:0001257HP:0001258Spastic paraplegia2AARS CL E G H16442835ORPHA020601065
HP:0001257HP:0002478Progressive spastic quadriplegia2AARS CL E G H16442835ORPHA020601065
HP:0001257HP:0031957Spastic hemiparetic gait2AARS CL E G H16442835ORPHA020601065
HP:0001257HP:0031958Spastic paraparetic gait2AARS CL E G H16442835ORPHA020601065
HP:0001257HP:0002313Spastic paraparesis2ADAT3 CL E G H113179615286Mental retardation, autosomal recessive 36615286C3809039OMIM012725151615302
HP:0001257HP:0001258Spastic paraplegia2ADAT3 CL E G H113179615286Mental retardation, autosomal recessive 36615286C3809039OMIM012725151615302
HP:0001257HP:0002478Progressive spastic quadriplegia2ADAT3 CL E G H113179615286Mental retardation, autosomal recessive 36615286C3809039OMIM012725151615302
HP:0001257HP:0031957Spastic hemiparetic gait2ADAT3 CL E G H113179615286Mental retardation, autosomal recessive 36615286C3809039OMIM012725151615302
HP:0001257HP:0031958Spastic paraparetic gait2ADAT3 CL E G H113179615286Mental retardation, autosomal recessive 36615286C3809039OMIM012725151615302
HP:0001257HP:0002313Spastic paraparesis2AFG3L2 CL E G H10939101109ORPHA0480315604581
HP:0001257HP:0001258Spastic paraplegia2AFG3L2 CL E G H10939101109ORPHA0480315604581
HP:0001257HP:0002478Progressive spastic quadriplegia2AFG3L2 CL E G H10939101109ORPHA0480315604581
HP:0001257HP:0031957Spastic hemiparetic gait2AFG3L2 CL E G H10939101109ORPHA0480315604581
HP:0001257HP:0031958Spastic paraparetic gait2AFG3L2 CL E G H10939101109ORPHA0480315604581
HP:0001257HP:0002313Spastic paraparesis2AGTPBP1 CL E G H23287618276618276618276OMIM010517258606830
HP:0001257HP:0001258Spastic paraplegia2AGTPBP1 CL E G H23287618276618276618276OMIM010517258606830
HP:0001257HP:0002478Progressive spastic quadriplegia2AGTPBP1 CL E G H23287618276618276618276OMIM010517258606830
HP:0001257HP:0031957Spastic hemiparetic gait2AGTPBP1 CL E G H23287618276618276618276OMIM010517258606830
HP:0001257HP:0031958Spastic paraparetic gait2AGTPBP1 CL E G H23287618276618276618276OMIM010517258606830
HP:0001257HP:0002313Spastic paraparesis2AP3B2 CL E G H8120442835ORPHA0690567602166
HP:0001257HP:0001258Spastic paraplegia2AP3B2 CL E G H8120442835ORPHA0690567602166
HP:0001257HP:0002478Progressive spastic quadriplegia2AP3B2 CL E G H8120442835ORPHA0690567602166
HP:0001257HP:0031957Spastic hemiparetic gait2AP3B2 CL E G H8120442835ORPHA0690567602166
HP:0001257HP:0031958Spastic paraparetic gait2AP3B2 CL E G H8120442835ORPHA0690567602166
HP:0001257HP:0002313Spastic paraparesis2ARSA CL E G H410309256ORPHA01140713607574
HP:0001257HP:0001258Spastic paraplegia2ARSA CL E G H410309256ORPHA01140713607574
HP:0001257HP:0002478Progressive spastic quadriplegia2ARSA CL E G H410309256ORPHA01140713607574
HP:0001257HP:0031957Spastic hemiparetic gait2ARSA CL E G H410309256ORPHA01140713607574
HP:0001257HP:0031958Spastic paraparetic gait2ARSA CL E G H410309256ORPHA01140713607574
HP:0001257HP:0002313Spastic paraparesis2ARSA CL E G H410309263ORPHA01140713607574
HP:0001257HP:0001258Spastic paraplegia2ARSA CL E G H410309263ORPHA01140713607574
HP:0001257HP:0002478Progressive spastic quadriplegia2ARSA CL E G H410309263ORPHA01140713607574
HP:0001257HP:0031957Spastic hemiparetic gait2ARSA CL E G H410309263ORPHA01140713607574
HP:0001257HP:0031958Spastic paraparetic gait2ARSA CL E G H410309263ORPHA01140713607574
HP:0001257HP:0002313Spastic paraparesis2ARV1 CL E G H64801442835ORPHA08929561611647
HP:0001257HP:0001258Spastic paraplegia2ARV1 CL E G H64801442835ORPHA08929561611647
HP:0001257HP:0002478Progressive spastic quadriplegia2ARV1 CL E G H64801442835ORPHA08929561611647
HP:0001257HP:0031957Spastic hemiparetic gait2ARV1 CL E G H64801442835ORPHA08929561611647
HP:0001257HP:0031958Spastic paraparetic gait2ARV1 CL E G H64801442835ORPHA08929561611647
HP:0001257HP:0002313Spastic paraparesis2ARX CL E G H170302452ORPHA081018060300382
HP:0001257HP:0001258Spastic paraplegia2ARX CL E G H170302452ORPHA081018060300382
HP:0001257HP:0002478Progressive spastic quadriplegia2ARX CL E G H170302452ORPHA081018060300382
HP:0001257HP:0031957Spastic hemiparetic gait2ARX CL E G H170302452ORPHA081018060300382
HP:0001257HP:0031958Spastic paraparetic gait2ARX CL E G H170302452ORPHA081018060300382
HP:0001257HP:0002313Spastic paraparesis2ATP6AP2 CL E G H10159300911Parkinsonism with spasticity, X-linked300911C3806722OMIM034018305300556
HP:0001257HP:0001258Spastic paraplegia2ATP6AP2 CL E G H10159300911Parkinsonism with spasticity, X-linked300911C3806722OMIM034018305300556
HP:0001257HP:0002478Progressive spastic quadriplegia2ATP6AP2 CL E G H10159300911Parkinsonism with spasticity, X-linked300911C3806722OMIM034018305300556
HP:0001257HP:0031957Spastic hemiparetic gait2ATP6AP2 CL E G H10159300911Parkinsonism with spasticity, X-linked300911C3806722OMIM034018305300556
HP:0001257HP:0031958Spastic paraparetic gait2ATP6AP2 CL E G H10159300911Parkinsonism with spasticity, X-linked300911C3806722OMIM034018305300556
HP:0001257HP:0002313Spastic paraparesis2ATP6V1A CL E G H523442835ORPHA0229851607027
HP:0001257HP:0001258Spastic paraplegia2ATP6V1A CL E G H523442835ORPHA0229851607027
HP:0001257HP:0002478Progressive spastic quadriplegia2ATP6V1A CL E G H523442835ORPHA0229851607027
HP:0001257HP:0031957Spastic hemiparetic gait2ATP6V1A CL E G H523442835ORPHA0229851607027
HP:0001257HP:0031958Spastic paraparetic gait2ATP6V1A CL E G H523442835ORPHA0229851607027
HP:0001257HP:0002313Spastic paraparesis2ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM0657106607047
HP:0001257HP:0001258Spastic paraplegia2ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM0657106607047
HP:0001257HP:0002478Progressive spastic quadriplegia2ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM0657106607047
HP:0001257HP:0031957Spastic hemiparetic gait2ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM0657106607047
HP:0001257HP:0031958Spastic paraparetic gait2ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM0657106607047
HP:0001257HP:0002313Spastic paraparesis2BEAN1 CL E G H146227217012ORPHA05624160612051
HP:0001257HP:0001258Spastic paraplegia2BEAN1 CL E G H146227217012ORPHA05624160612051
HP:0001257HP:0002478Progressive spastic quadriplegia2BEAN1 CL E G H146227217012ORPHA05624160612051
HP:0001257HP:0031957Spastic hemiparetic gait2BEAN1 CL E G H146227217012ORPHA05624160612051
HP:0001257HP:0031958Spastic paraparetic gait2BEAN1 CL E G H146227217012ORPHA05624160612051
HP:0001257HP:0002313Spastic paraparesis2BICD2 CL E G H23299615290Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant615290C3809049OMIM074017208609797
HP:0001257HP:0001258Spastic paraplegia2BICD2 CL E G H23299615290Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant615290C3809049OMIM074017208609797
HP:0001257HP:0002478Progressive spastic quadriplegia2BICD2 CL E G H23299615290Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant615290C3809049OMIM074017208609797
HP:0001257HP:0031957Spastic hemiparetic gait2BICD2 CL E G H23299615290Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant615290C3809049OMIM074017208609797
HP:0001257HP:0031958Spastic paraparetic gait2BICD2 CL E G H23299615290Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant615290C3809049OMIM074017208609797
HP:0001257HP:0002313Spastic paraparesis2CACNA1A CL E G H773442835ORPHA032481388601011
HP:0001257HP:0001258Spastic paraplegia2CACNA1A CL E G H773442835ORPHA032481388601011
HP:0001257HP:0002478Progressive spastic quadriplegia2CACNA1A CL E G H773442835ORPHA032481388601011
HP:0001257HP:0031957Spastic hemiparetic gait2CACNA1A CL E G H773442835ORPHA032481388601011
HP:0001257HP:0031958Spastic paraparetic gait2CACNA1A CL E G H773442835ORPHA032481388601011
HP:0001257HP:0002313Spastic paraparesis2CASK CL E G H8573163937ORPHA08441497300172
HP:0001257HP:0001258Spastic paraplegia2CASK CL E G H8573163937ORPHA08441497300172
HP:0001257HP:0002478Progressive spastic quadriplegia2CASK CL E G H8573163937ORPHA08441497300172
HP:0001257HP:0031957Spastic hemiparetic gait2CASK CL E G H8573163937ORPHA08441497300172
HP:0001257HP:0031958Spastic paraparetic gait2CASK CL E G H8573163937ORPHA08441497300172
HP:0001257HP:0002313Spastic paraparesis2CLIC2 CL E G H1193300886Mental retardation, X-linked, syndromic 32300886C3550913OMIM02702063300138
HP:0001257HP:0001258Spastic paraplegia2CLIC2 CL E G H1193300886Mental retardation, X-linked, syndromic 32300886C3550913OMIM02702063300138
HP:0001257HP:0002478Progressive spastic quadriplegia2CLIC2 CL E G H1193300886Mental retardation, X-linked, syndromic 32300886C3550913OMIM02702063300138
HP:0001257HP:0031957Spastic hemiparetic gait2CLIC2 CL E G H1193300886Mental retardation, X-linked, syndromic 32300886C3550913OMIM02702063300138
HP:0001257HP:0031958Spastic paraparetic gait2CLIC2 CL E G H1193300886Mental retardation, X-linked, syndromic 32300886C3550913OMIM02702063300138
HP:0001257HP:0002313Spastic paraparesis2CLTC CL E G H1213442835ORPHA06452092118955
HP:0001257HP:0001258Spastic paraplegia2CLTC CL E G H1213442835ORPHA06452092118955
HP:0001257HP:0002478Progressive spastic quadriplegia2CLTC CL E G H1213442835ORPHA06452092118955
HP:0001257HP:0031957Spastic hemiparetic gait2CLTC CL E G H1213442835ORPHA06452092118955
HP:0001257HP:0031958Spastic paraparetic gait2CLTC CL E G H1213442835ORPHA06452092118955
HP:0001257HP:0002313Spastic paraparesis2CNKSR2 CL E G H22866442835ORPHA030619701300724
HP:0001257HP:0001258Spastic paraplegia2CNKSR2 CL E G H22866442835ORPHA030619701300724
HP:0001257HP:0002478Progressive spastic quadriplegia2CNKSR2 CL E G H22866442835ORPHA030619701300724
HP:0001257HP:0031957Spastic hemiparetic gait2CNKSR2 CL E G H22866442835ORPHA030619701300724
HP:0001257HP:0031958Spastic paraparetic gait2CNKSR2 CL E G H22866442835ORPHA030619701300724
HP:0001257HP:0002313Spastic paraparesis2CYFIP2 CL E G H26999442835ORPHA066813760606323
HP:0001257HP:0001258Spastic paraplegia2CYFIP2 CL E G H26999442835ORPHA066813760606323
HP:0001257HP:0002478Progressive spastic quadriplegia2CYFIP2 CL E G H26999442835ORPHA066813760606323
HP:0001257HP:0031957Spastic hemiparetic gait2CYFIP2 CL E G H26999442835ORPHA066813760606323
HP:0001257HP:0031958Spastic paraparetic gait2CYFIP2 CL E G H26999442835ORPHA066813760606323
HP:0001257HP:0002313Spastic paraparesis2DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01422718600811
HP:0001257HP:0001258Spastic paraplegia2DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01422718600811
HP:0001257HP:0002478Progressive spastic quadriplegia2DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01422718600811
HP:0001257HP:0031957Spastic hemiparetic gait2DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01422718600811
HP:0001257HP:0031958Spastic paraparetic gait2DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01422718600811
HP:0001257HP:0002313Spastic paraparesis2DDX3X CL E G H1654300958Mental retardation, X-linked 102300958C4085582OMIM07452745300160
HP:0001257HP:0001258Spastic paraplegia2DDX3X CL E G H1654300958Mental retardation, X-linked 102300958C4085582OMIM07452745300160
HP:0001257HP:0002478Progressive spastic quadriplegia2DDX3X CL E G H1654300958Mental retardation, X-linked 102300958C4085582OMIM07452745300160
HP:0001257HP:0031957Spastic hemiparetic gait2DDX3X CL E G H1654300958Mental retardation, X-linked 102300958C4085582OMIM07452745300160
HP:0001257HP:0031958Spastic paraparetic gait2DDX3X CL E G H1654300958Mental retardation, X-linked 102300958C4085582OMIM07452745300160
HP:0001257HP:0002313Spastic paraparesis2DHDDS CL E G H79947442835ORPHA043420603608172
HP:0001257HP:0001258Spastic paraplegia2DHDDS CL E G H79947442835ORPHA043420603608172
HP:0001257HP:0002478Progressive spastic quadriplegia2DHDDS CL E G H79947442835ORPHA043420603608172
HP:0001257HP:0031957Spastic hemiparetic gait2DHDDS CL E G H79947442835ORPHA043420603608172
HP:0001257HP:0031958Spastic paraparetic gait2DHDDS CL E G H79947442835ORPHA043420603608172
HP:0001257HP:0002313Spastic paraparesis2DNM1 CL E G H1759442835ORPHA07652972602377
HP:0001257HP:0001258Spastic paraplegia2DNM1 CL E G H1759442835ORPHA07652972602377
HP:0001257HP:0002478Progressive spastic quadriplegia2DNM1 CL E G H1759442835ORPHA07652972602377
HP:0001257HP:0031957Spastic hemiparetic gait2DNM1 CL E G H1759442835ORPHA07652972602377
HP:0001257HP:0031958Spastic paraparetic gait2DNM1 CL E G H1759442835ORPHA07652972602377
HP:0001257HP:0002313Spastic paraparesis2DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0001257HP:0001258Spastic paraplegia2DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0001257HP:0002478Progressive spastic quadriplegia2DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0001257HP:0031957Spastic hemiparetic gait2DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0001257HP:0031958Spastic paraparetic gait2DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0001257HP:0002313Spastic paraparesis2EEF1A2 CL E G H1917442835ORPHA05753192602959
HP:0001257HP:0001258Spastic paraplegia2EEF1A2 CL E G H1917442835ORPHA05753192602959
HP:0001257HP:0002478Progressive spastic quadriplegia2EEF1A2 CL E G H1917442835ORPHA05753192602959
HP:0001257HP:0031957Spastic hemiparetic gait2EEF1A2 CL E G H1917442835ORPHA05753192602959
HP:0001257HP:0031958Spastic paraparetic gait2EEF1A2 CL E G H1917442835ORPHA05753192602959
HP:0001257HP:0002313Spastic paraparesis2EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM02083267300161
HP:0001257HP:0001258Spastic paraplegia2EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM02083267300161
HP:0001257HP:0002478Progressive spastic quadriplegia2EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM02083267300161
HP:0001257HP:0031957Spastic hemiparetic gait2EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM02083267300161
HP:0001257HP:0031958Spastic paraparetic gait2EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM02083267300161
HP:0001257HP:0002313Spastic paraparesis2ELOVL4 CL E G H6785133190Erythrokeratodermia with ataxia133190C1851481OMIM029714415605512
HP:0001257HP:0001258Spastic paraplegia2ELOVL4 CL E G H6785133190Erythrokeratodermia with ataxia133190C1851481OMIM029714415605512
HP:0001257HP:0002478Progressive spastic quadriplegia2ELOVL4 CL E G H6785133190Erythrokeratodermia with ataxia133190C1851481OMIM029714415605512
HP:0001257HP:0031957Spastic hemiparetic gait2ELOVL4 CL E G H6785133190Erythrokeratodermia with ataxia133190C1851481OMIM029714415605512
HP:0001257HP:0031958Spastic paraparetic gait2ELOVL4 CL E G H6785133190Erythrokeratodermia with ataxia133190C1851481OMIM029714415605512
HP:0001257HP:0002313Spastic paraparesis2ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA015723434126340
HP:0001257HP:0001258Spastic paraplegia2ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA015723434126340
HP:0001257HP:0002478Progressive spastic quadriplegia2ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA015723434126340
HP:0001257HP:0031957Spastic hemiparetic gait2ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA015723434126340
HP:0001257HP:0031958Spastic paraparetic gait2ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA015723434126340
HP:0001257HP:0002313Spastic paraparesis2ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA05233435133510
HP:0001257HP:0001258Spastic paraplegia2ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA05233435133510
HP:0001257HP:0002478Progressive spastic quadriplegia2ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA05233435133510
HP:0001257HP:0031957Spastic hemiparetic gait2ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA05233435133510
HP:0001257HP:0031958Spastic paraparetic gait2ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA05233435133510
HP:0001257HP:0002313Spastic paraparesis2ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA07263436133520
HP:0001257HP:0001258Spastic paraplegia2ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA07263436133520
HP:0001257HP:0002478Progressive spastic quadriplegia2ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA07263436133520
HP:0001257HP:0031957Spastic hemiparetic gait2ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA07263436133520
HP:0001257HP:0031958Spastic paraparetic gait2ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA07263436133520
HP:0001257HP:0002313Spastic paraparesis2ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA04913437133530
HP:0001257HP:0001258Spastic paraplegia2ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA04913437133530
HP:0001257HP:0002478Progressive spastic quadriplegia2ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA04913437133530
HP:0001257HP:0031957Spastic hemiparetic gait2ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA04913437133530
HP:0001257HP:0031958Spastic paraparetic gait2ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA04913437133530
HP:0001257HP:0002313Spastic paraparesis2ERCC5 CL E G H2073278780Xeroderma pigmentosum, group G278780C0268141OMIM04913437133530
HP:0001257HP:0001258Spastic paraplegia2ERCC5 CL E G H2073278780Xeroderma pigmentosum, group G278780C0268141OMIM04913437133530
HP:0001257HP:0002478Progressive spastic quadriplegia2ERCC5 CL E G H2073278780Xeroderma pigmentosum, group G278780C0268141OMIM04913437133530
HP:0001257HP:0031957Spastic hemiparetic gait2ERCC5 CL E G H2073278780Xeroderma pigmentosum, group G278780C0268141OMIM04913437133530
HP:0001257HP:0031958Spastic paraparetic gait2ERCC5 CL E G H2073278780Xeroderma pigmentosum, group G278780C0268141OMIM04913437133530
HP:0001257HP:0002313Spastic paraparesis2ERLIN1 CL E G H10613615681Spastic paraplegia 62, autosomal recessive615681C4284588OMIM013616947611604
HP:0001257HP:0001258Spastic paraplegia2ERLIN1 CL E G H10613615681Spastic paraplegia 62, autosomal recessive615681C4284588OMIM013616947611604
HP:0001257HP:0002478Progressive spastic quadriplegia2ERLIN1 CL E G H10613615681Spastic paraplegia 62, autosomal recessive615681C4284588OMIM013616947611604
HP:0001257HP:0031957Spastic hemiparetic gait2ERLIN1 CL E G H10613615681Spastic paraplegia 62, autosomal recessive615681C4284588OMIM013616947611604
HP:0001257HP:0031958Spastic paraparetic gait2ERLIN1 CL E G H10613615681Spastic paraplegia 62, autosomal recessive615681C4284588OMIM013616947611604
HP:0001257HP:0002313Spastic paraparesis2FGF12 CL E G H2257442835ORPHA02593668601513
HP:0001257HP:0001258Spastic paraplegia2FGF12 CL E G H2257442835ORPHA02593668601513
HP:0001257HP:0002478Progressive spastic quadriplegia2FGF12 CL E G H2257442835ORPHA02593668601513
HP:0001257HP:0031957Spastic hemiparetic gait2FGF12 CL E G H2257442835ORPHA02593668601513
HP:0001257HP:0031958Spastic paraparetic gait2FGF12 CL E G H2257442835ORPHA02593668601513
HP:0001257HP:0002313Spastic paraparesis2FXN CL E G H239595ORPHA01583951606829
HP:0001257HP:0001258Spastic paraplegia2FXN CL E G H239595ORPHA01583951606829
HP:0001257HP:0002478Progressive spastic quadriplegia2FXN CL E G H239595ORPHA01583951606829
HP:0001257HP:0031957Spastic hemiparetic gait2FXN CL E G H239595ORPHA01583951606829
HP:0001257HP:0031958Spastic paraparetic gait2FXN CL E G H239595ORPHA01583951606829
HP:0001257HP:0002313Spastic paraparesis2GABRB2 CL E G H2561442835ORPHA04944082600232
HP:0001257HP:0001258Spastic paraplegia2GABRB2 CL E G H2561442835ORPHA04944082600232
HP:0001257HP:0002478Progressive spastic quadriplegia2GABRB2 CL E G H2561442835ORPHA04944082600232
HP:0001257HP:0031957Spastic hemiparetic gait2GABRB2 CL E G H2561442835ORPHA04944082600232
HP:0001257HP:0031958Spastic paraparetic gait2GABRB2 CL E G H2561442835ORPHA04944082600232
HP:0001257HP:0002313Spastic paraparesis2GRIN2D CL E G H2906442835ORPHA08234588602717
HP:0001257HP:0001258Spastic paraplegia2GRIN2D CL E G H2906442835ORPHA08234588602717
HP:0001257HP:0002478Progressive spastic quadriplegia2GRIN2D CL E G H2906442835ORPHA08234588602717
HP:0001257HP:0031957Spastic hemiparetic gait2GRIN2D CL E G H2906442835ORPHA08234588602717
HP:0001257HP:0031958Spastic paraparetic gait2GRIN2D CL E G H2906442835ORPHA08234588602717
HP:0001257HP:0002313Spastic paraparesis2GRM1 CL E G H2911617691SPINOCEREBELLAR ATAXIA 44617691C4521563OMIM02984593604473
HP:0001257HP:0001258Spastic paraplegia2GRM1 CL E G H2911617691SPINOCEREBELLAR ATAXIA 44617691C4521563OMIM02984593604473
HP:0001257HP:0002478Progressive spastic quadriplegia2GRM1 CL E G H2911617691SPINOCEREBELLAR ATAXIA 44617691C4521563OMIM02984593604473
HP:0001257HP:0031957Spastic hemiparetic gait2GRM1 CL E G H2911617691SPINOCEREBELLAR ATAXIA 44617691C4521563OMIM02984593604473
HP:0001257HP:0031958Spastic paraparetic gait2GRM1 CL E G H2911617691SPINOCEREBELLAR ATAXIA 44617691C4521563OMIM02984593604473
HP:0001257HP:0002313Spastic paraparesis2HCN1 CL E G H348980442835ORPHA07964845602780
HP:0001257HP:0001258Spastic paraplegia2HCN1 CL E G H348980442835ORPHA07964845602780
HP:0001257HP:0002478Progressive spastic quadriplegia2HCN1 CL E G H348980442835ORPHA07964845602780
HP:0001257HP:0031957Spastic hemiparetic gait2HCN1 CL E G H348980442835ORPHA07964845602780
HP:0001257HP:0031958Spastic paraparetic gait2HCN1 CL E G H348980442835ORPHA07964845602780
HP:0001257HP:0002313Spastic paraparesis2IARS CL E G H3376617093Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy617093C4310720OMIM05330600709
HP:0001257HP:0001258Spastic paraplegia2IARS CL E G H3376617093Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy617093C4310720OMIM05330600709
HP:0001257HP:0002478Progressive spastic quadriplegia2IARS CL E G H3376617093Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy617093C4310720OMIM05330600709
HP:0001257HP:0031957Spastic hemiparetic gait2IARS CL E G H3376617093Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy617093C4310720OMIM05330600709
HP:0001257HP:0031958Spastic paraparetic gait2IARS CL E G H3376617093Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy617093C4310720OMIM05330600709
HP:0001257HP:0002313Spastic paraparesis2IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA03875961300248
HP:0001257HP:0001258Spastic paraplegia2IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA03875961300248
HP:0001257HP:0002478Progressive spastic quadriplegia2IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA03875961300248
HP:0001257HP:0031957Spastic hemiparetic gait2IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA03875961300248
HP:0001257HP:0031958Spastic paraparetic gait2IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA03875961300248
HP:0001257HP:0002313Spastic paraparesis2KATNB1 CL E G H10300616212Lissencephaly 6, with microcephaly616212C4015525OMIM03146217602703
HP:0001257HP:0001258Spastic paraplegia2KATNB1 CL E G H10300616212Lissencephaly 6, with microcephaly616212C4015525OMIM03146217602703
HP:0001257HP:0002478Progressive spastic quadriplegia2KATNB1 CL E G H10300616212Lissencephaly 6, with microcephaly616212C4015525OMIM03146217602703
HP:0001257HP:0031957Spastic hemiparetic gait2KATNB1 CL E G H10300616212Lissencephaly 6, with microcephaly616212C4015525OMIM03146217602703
HP:0001257HP:0031958Spastic paraparetic gait2KATNB1 CL E G H10300616212Lissencephaly 6, with microcephaly616212C4015525OMIM03146217602703
HP:0001257HP:0002313Spastic paraparesis2KCNA2 CL E G H3737442835ORPHA04016220176262
HP:0001257HP:0001258Spastic paraplegia2KCNA2 CL E G H3737442835ORPHA04016220176262
HP:0001257HP:0002478Progressive spastic quadriplegia2KCNA2 CL E G H3737442835ORPHA04016220176262
HP:0001257HP:0031957Spastic hemiparetic gait2KCNA2 CL E G H3737442835ORPHA04016220176262
HP:0001257HP:0031958Spastic paraparetic gait2KCNA2 CL E G H3737442835ORPHA04016220176262
HP:0001257HP:0002313Spastic paraparesis2KCNB1 CL E G H3745442835ORPHA06356231600397
HP:0001257HP:0001258Spastic paraplegia2KCNB1 CL E G H3745442835ORPHA06356231600397
HP:0001257HP:0002478Progressive spastic quadriplegia2KCNB1 CL E G H3745442835ORPHA06356231600397
HP:0001257HP:0031957Spastic hemiparetic gait2KCNB1 CL E G H3745442835ORPHA06356231600397
HP:0001257HP:0031958Spastic paraparetic gait2KCNB1 CL E G H3745442835ORPHA06356231600397
HP:0001257HP:0002313Spastic paraparesis2KIF11 CL E G H38322526ORPHA07696388148760
HP:0001257HP:0001258Spastic paraplegia2KIF11 CL E G H38322526ORPHA07696388148760
HP:0001257HP:0002478Progressive spastic quadriplegia2KIF11 CL E G H38322526ORPHA07696388148760
HP:0001257HP:0031957Spastic hemiparetic gait2KIF11 CL E G H38322526ORPHA07696388148760
HP:0001257HP:0031958Spastic paraparetic gait2KIF11 CL E G H38322526ORPHA07696388148760
HP:0001257HP:0002313Spastic paraparesis2KIF1A CL E G H547614255Mental retardation, autosomal dominant 9614255C3280283OMIM02622888601255
HP:0001257HP:0001258Spastic paraplegia2KIF1A CL E G H547614255Mental retardation, autosomal dominant 9614255C3280283OMIM02622888601255
HP:0001257HP:0002478Progressive spastic quadriplegia2KIF1A CL E G H547614255Mental retardation, autosomal dominant 9614255C3280283OMIM02622888601255
HP:0001257HP:0031957Spastic hemiparetic gait2KIF1A CL E G H547614255Mental retardation, autosomal dominant 9614255C3280283OMIM02622888601255
HP:0001257HP:0031958Spastic paraparetic gait2KIF1A CL E G H547614255Mental retardation, autosomal dominant 9614255C3280283OMIM02622888601255
HP:0001257HP:0002313Spastic paraparesis2KMT2B CL E G H9757617284Dystonia 28, childhood-onset617284C4310633OMIM0130315840606834
HP:0001257HP:0001258Spastic paraplegia2KMT2B CL E G H9757617284Dystonia 28, childhood-onset617284C4310633OMIM0130315840606834
HP:0001257HP:0002478Progressive spastic quadriplegia2KMT2B CL E G H9757617284Dystonia 28, childhood-onset617284C4310633OMIM0130315840606834
HP:0001257HP:0031957Spastic hemiparetic gait2KMT2B CL E G H9757617284Dystonia 28, childhood-onset617284C4310633OMIM0130315840606834
HP:0001257HP:0031958Spastic paraparetic gait2KMT2B CL E G H9757617284Dystonia 28, childhood-onset617284C4310633OMIM0130315840606834
HP:0001257HP:0002313Spastic paraparesis2LINGO1 CL E G H84894618103MENTAL RETARDATION, AUTOSOMAL RECESSIVE 64618103CN253431OMIM07821205609791
HP:0001257HP:0001258Spastic paraplegia2LINGO1 CL E G H84894618103MENTAL RETARDATION, AUTOSOMAL RECESSIVE 64618103CN253431OMIM07821205609791
HP:0001257HP:0002478Progressive spastic quadriplegia2LINGO1 CL E G H84894618103MENTAL RETARDATION, AUTOSOMAL RECESSIVE 64618103CN253431OMIM07821205609791
HP:0001257HP:0031957Spastic hemiparetic gait2LINGO1 CL E G H84894618103MENTAL RETARDATION, AUTOSOMAL RECESSIVE 64618103CN253431OMIM07821205609791
HP:0001257HP:0031958Spastic paraparetic gait2LINGO1 CL E G H84894618103MENTAL RETARDATION, AUTOSOMAL RECESSIVE 64618103CN253431OMIM07821205609791
HP:0001257HP:0002313Spastic paraparesis2MCCC1 CL E G H569226Intellectual disability (mild)CN240508ORPHA07206936609010
HP:0001257HP:0001258Spastic paraplegia2MCCC1 CL E G H569226Intellectual disability (mild)CN240508ORPHA07206936609010
HP:0001257HP:0002478Progressive spastic quadriplegia2MCCC1 CL E G H569226Intellectual disability (mild)CN240508ORPHA07206936609010
HP:0001257HP:0031957Spastic hemiparetic gait2MCCC1 CL E G H569226Intellectual disability (mild)CN240508ORPHA07206936609010
HP:0001257HP:0031958Spastic paraparetic gait2MCCC1 CL E G H569226Intellectual disability (mild)CN240508ORPHA07206936609010
HP:0001257HP:0002313Spastic paraparesis2MCCC2 CL E G H640876Intellectual disability (mild)CN240508ORPHA06446937609014
HP:0001257HP:0001258Spastic paraplegia2MCCC2 CL E G H640876Intellectual disability (mild)CN240508ORPHA06446937609014
HP:0001257HP:0002478Progressive spastic quadriplegia2MCCC2 CL E G H640876Intellectual disability (mild)CN240508ORPHA06446937609014
HP:0001257HP:0031957Spastic hemiparetic gait2MCCC2 CL E G H640876Intellectual disability (mild)CN240508ORPHA06446937609014
HP:0001257HP:0031958Spastic paraparetic gait2MCCC2 CL E G H640876Intellectual disability (mild)CN240508ORPHA06446937609014
HP:0001257HP:0002313Spastic paraparesis2MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM015119691608205
HP:0001257HP:0001258Spastic paraplegia2MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM015119691608205
HP:0001257HP:0002478Progressive spastic quadriplegia2MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM015119691608205
HP:0001257HP:0031957Spastic hemiparetic gait2MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM015119691608205
HP:0001257HP:0031958Spastic paraparetic gait2MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM015119691608205
HP:0001257HP:0002313Spastic paraparesis2MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM0122216877608507
HP:0001257HP:0001258Spastic paraplegia2MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM0122216877608507
HP:0001257HP:0002478Progressive spastic quadriplegia2MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM0122216877608507
HP:0001257HP:0031957Spastic hemiparetic gait2MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM0122216877608507
HP:0001257HP:0031958Spastic paraparetic gait2MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM0122216877608507
HP:0001257HP:0002313Spastic paraparesis2MTO1 CL E G H25821614702Combined oxidative phosphorylation deficiency 10614702C3553529OMIM063819261614667
HP:0001257HP:0001258Spastic paraplegia2MTO1 CL E G H25821614702Combined oxidative phosphorylation deficiency 10614702C3553529OMIM063819261614667
HP:0001257HP:0002478Progressive spastic quadriplegia2MTO1 CL E G H25821614702Combined oxidative phosphorylation deficiency 10614702C3553529OMIM063819261614667
HP:0001257HP:0031957Spastic hemiparetic gait2MTO1 CL E G H25821614702Combined oxidative phosphorylation deficiency 10614702C3553529OMIM063819261614667
HP:0001257HP:0031958Spastic paraparetic gait2MTO1 CL E G H25821614702Combined oxidative phosphorylation deficiency 10614702C3553529OMIM063819261614667
HP:0001257HP:0002313Spastic paraparesis2MYO5A CL E G H464433445ORPHA03377602160777
HP:0001257HP:0001258Spastic paraplegia2MYO5A CL E G H464433445ORPHA03377602160777
HP:0001257HP:0002478Progressive spastic quadriplegia2MYO5A CL E G H464433445ORPHA03377602160777
HP:0001257HP:0031957Spastic hemiparetic gait2MYO5A CL E G H464433445ORPHA03377602160777
HP:0001257HP:0031958Spastic paraparetic gait2MYO5A CL E G H464433445ORPHA03377602160777
HP:0001257HP:0002313Spastic paraparesis2NECAP1 CL E G H25977442835ORPHA022124539611623
HP:0001257HP:0001258Spastic paraplegia2NECAP1 CL E G H25977442835ORPHA022124539611623
HP:0001257HP:0002478Progressive spastic quadriplegia2NECAP1 CL E G H25977442835ORPHA022124539611623
HP:0001257HP:0031957Spastic hemiparetic gait2NECAP1 CL E G H25977442835ORPHA022124539611623
HP:0001257HP:0031958Spastic paraparetic gait2NECAP1 CL E G H25977442835ORPHA022124539611623
HP:0001257HP:0002313Spastic paraparesis2NEFL CL E G H4747617882CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G617882CN847583OMIM06147739162280
HP:0001257HP:0001258Spastic paraplegia2NEFL CL E G H4747617882CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G617882CN847583OMIM06147739162280
HP:0001257HP:0002478Progressive spastic quadriplegia2NEFL CL E G H4747617882CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G617882CN847583OMIM06147739162280
HP:0001257HP:0031957Spastic hemiparetic gait2NEFL CL E G H4747617882CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G617882CN847583OMIM06147739162280
HP:0001257HP:0031958Spastic paraparetic gait2NEFL CL E G H4747617882CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G617882CN847583OMIM06147739162280
HP:0001257HP:0002313Spastic paraparesis2NTRK2 CL E G H4915442835ORPHA05098032600456
HP:0001257HP:0001258Spastic paraplegia2NTRK2 CL E G H4915442835ORPHA05098032600456
HP:0001257HP:0002478Progressive spastic quadriplegia2NTRK2 CL E G H4915442835ORPHA05098032600456
HP:0001257HP:0031957Spastic hemiparetic gait2NTRK2 CL E G H4915442835ORPHA05098032600456
HP:0001257HP:0031958Spastic paraparetic gait2NTRK2 CL E G H4915442835ORPHA05098032600456
HP:0001257HP:0002313Spastic paraparesis2NUS1 CL E G H116150442835ORPHA032621042610463
HP:0001257HP:0001258Spastic paraplegia2NUS1 CL E G H116150442835ORPHA032621042610463
HP:0001257HP:0002478Progressive spastic quadriplegia2NUS1 CL E G H116150442835ORPHA032621042610463
HP:0001257HP:0031957Spastic hemiparetic gait2NUS1 CL E G H116150442835ORPHA032621042610463
HP:0001257HP:0031958Spastic paraparetic gait2NUS1 CL E G H116150442835ORPHA032621042610463
HP:0001257HP:0002313Spastic paraparesis2OPA1 CL E G H4976125250Autosomal dominant optic atrophy plus syndrome125250C1852267OMIM012248140605290
HP:0001257HP:0001258Spastic paraplegia2OPA1 CL E G H4976125250Autosomal dominant optic atrophy plus syndrome125250C1852267OMIM012248140605290
HP:0001257HP:0002478Progressive spastic quadriplegia2OPA1 CL E G H4976125250Autosomal dominant optic atrophy plus syndrome125250C1852267OMIM012248140605290
HP:0001257HP:0031957Spastic hemiparetic gait2OPA1 CL E G H4976125250Autosomal dominant optic atrophy plus syndrome125250C1852267OMIM012248140605290
HP:0001257HP:0031958Spastic paraparetic gait2OPA1 CL E G H4976125250Autosomal dominant optic atrophy plus syndrome125250C1852267OMIM012248140605290
HP:0001257HP:0002313Spastic paraparesis2PGAP1 CL E G H80055615802Mental retardation, autosomal recessive 42615802C4014343OMIM037925712611655
HP:0001257HP:0001258Spastic paraplegia2PGAP1 CL E G H80055615802Mental retardation, autosomal recessive 42615802C4014343OMIM037925712611655
HP:0001257HP:0002478Progressive spastic quadriplegia2PGAP1 CL E G H80055615802Mental retardation, autosomal recessive 42615802C4014343OMIM037925712611655
HP:0001257HP:0031957Spastic hemiparetic gait2PGAP1 CL E G H80055615802Mental retardation, autosomal recessive 42615802C4014343OMIM037925712611655
HP:0001257HP:0031958Spastic paraparetic gait2PGAP1 CL E G H80055615802Mental retardation, autosomal recessive 42615802C4014343OMIM037925712611655
HP:0001257HP:0002313Spastic paraparesis2PNPLA6 CL E G H10908215470Boucher Neuhauser syndrome215470C1859093OMIM0121616268603197
HP:0001257HP:0001258Spastic paraplegia2PNPLA6 CL E G H10908215470Boucher Neuhauser syndrome215470C1859093OMIM0121616268603197
HP:0001257HP:0002478Progressive spastic quadriplegia2PNPLA6 CL E G H10908215470Boucher Neuhauser syndrome215470C1859093OMIM0121616268603197
HP:0001257HP:0031957Spastic hemiparetic gait2PNPLA6 CL E G H10908215470Boucher Neuhauser syndrome215470C1859093OMIM0121616268603197
HP:0001257HP:0031958Spastic paraparetic gait2PNPLA6 CL E G H10908215470Boucher Neuhauser syndrome215470C1859093OMIM0121616268603197
HP:0001257HP:0002313Spastic paraparesis2POLR1C CL E G H9533616494Leukodystrophy, hypomyelinating, 11616494C4225305OMIM0194420194610060
HP:0001257HP:0001258Spastic paraplegia2POLR1C CL E G H9533616494Leukodystrophy, hypomyelinating, 11616494C4225305OMIM0194420194610060
HP:0001257HP:0002478Progressive spastic quadriplegia2POLR1C CL E G H9533616494Leukodystrophy, hypomyelinating, 11616494C4225305OMIM0194420194610060
HP:0001257HP:0031957Spastic hemiparetic gait2POLR1C CL E G H9533616494Leukodystrophy, hypomyelinating, 11616494C4225305OMIM0194420194610060
HP:0001257HP:0031958Spastic paraparetic gait2POLR1C CL E G H9533616494Leukodystrophy, hypomyelinating, 11616494C4225305OMIM0194420194610060
HP:0001257HP:0002313Spastic paraparesis2PPP3CA CL E G H5530442835ORPHA03519314114105
HP:0001257HP:0001258Spastic paraplegia2PPP3CA CL E G H5530442835ORPHA03519314114105
HP:0001257HP:0002478Progressive spastic quadriplegia2PPP3CA CL E G H5530442835ORPHA03519314114105
HP:0001257HP:0031957Spastic hemiparetic gait2PPP3CA CL E G H5530442835ORPHA03519314114105
HP:0001257HP:0031958Spastic paraparetic gait2PPP3CA CL E G H5530442835ORPHA03519314114105
HP:0001257HP:0002313Spastic paraparesis2PPP3CA CL E G H5530617711EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1617711C4540199OMIM03519314114105
HP:0001257HP:0001258Spastic paraplegia2PPP3CA CL E G H5530617711EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1617711C4540199OMIM03519314114105
HP:0001257HP:0002478Progressive spastic quadriplegia2PPP3CA CL E G H5530617711EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1617711C4540199OMIM03519314114105
HP:0001257HP:0031957Spastic hemiparetic gait2PPP3CA CL E G H5530617711EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1617711C4540199OMIM03519314114105
HP:0001257HP:0031958Spastic paraparetic gait2PPP3CA CL E G H5530617711EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1617711C4540199OMIM03519314114105
HP:0001257HP:0002313Spastic paraparesis2PSAP CL E G H5660309256ORPHA07729498176801
HP:0001257HP:0001258Spastic paraplegia2PSAP CL E G H5660309256ORPHA07729498176801
HP:0001257HP:0002478Progressive spastic quadriplegia2PSAP CL E G H5660309256ORPHA07729498176801
HP:0001257HP:0031957Spastic hemiparetic gait2PSAP CL E G H5660309256ORPHA07729498176801
HP:0001257HP:0031958Spastic paraparetic gait2PSAP CL E G H5660309256ORPHA07729498176801
HP:0001257HP:0002313Spastic paraparesis2PSAP CL E G H5660309263ORPHA07729498176801
HP:0001257HP:0001258Spastic paraplegia2PSAP CL E G H5660309263ORPHA07729498176801
HP:0001257HP:0002478Progressive spastic quadriplegia2PSAP CL E G H5660309263ORPHA07729498176801
HP:0001257HP:0031957Spastic hemiparetic gait2PSAP CL E G H5660309263ORPHA07729498176801
HP:0001257HP:0031958Spastic paraparetic gait2PSAP CL E G H5660309263ORPHA07729498176801
HP:0001257HP:0002313Spastic paraparesis2RNASET2 CL E G H8635612951Leukoencephalopathy, cystic, without megalencephaly612951C2751843OMIM019921686612944
HP:0001257HP:0001258Spastic paraplegia2RNASET2 CL E G H8635612951Leukoencephalopathy, cystic, without megalencephaly612951C2751843OMIM019921686612944
HP:0001257HP:0002478Progressive spastic quadriplegia2RNASET2 CL E G H8635612951Leukoencephalopathy, cystic, without megalencephaly612951C2751843OMIM019921686612944
HP:0001257HP:0031957Spastic hemiparetic gait2RNASET2 CL E G H8635612951Leukoencephalopathy, cystic, without megalencephaly612951C2751843OMIM019921686612944
HP:0001257HP:0031958Spastic paraparetic gait2RNASET2 CL E G H8635612951Leukoencephalopathy, cystic, without megalencephaly612951C2751843OMIM019921686612944
HP:0001257HP:0002313Spastic paraparesis2RTTN CL E G H25914614833Microcephaly, short stature, and polymicrogyria with or without seizures614833C3553831OMIM0120618654610436
HP:0001257HP:0001258Spastic paraplegia2RTTN CL E G H25914614833Microcephaly, short stature, and polymicrogyria with or without seizures614833C3553831OMIM0120618654610436
HP:0001257HP:0002478Progressive spastic quadriplegia2RTTN CL E G H25914614833Microcephaly, short stature, and polymicrogyria with or without seizures614833C3553831OMIM0120618654610436
HP:0001257HP:0031957Spastic hemiparetic gait2RTTN CL E G H25914614833Microcephaly, short stature, and polymicrogyria with or without seizures614833C3553831OMIM0120618654610436
HP:0001257HP:0031958Spastic paraparetic gait2RTTN CL E G H25914614833Microcephaly, short stature, and polymicrogyria with or without seizures614833C3553831OMIM0120618654610436
HP:0001257HP:0002313Spastic paraparesis2SCN3A CL E G H6328442835ORPHA0142010590182391
HP:0001257HP:0001258Spastic paraplegia2SCN3A CL E G H6328442835ORPHA0142010590182391
HP:0001257HP:0002478Progressive spastic quadriplegia2SCN3A CL E G H6328442835ORPHA0142010590182391
HP:0001257HP:0031957Spastic hemiparetic gait2SCN3A CL E G H6328442835ORPHA0142010590182391
HP:0001257HP:0031958Spastic paraparetic gait2SCN3A CL E G H6328442835ORPHA0142010590182391
HP:0001257HP:0002313Spastic paraparesis2SCN8A CL E G H6334442835ORPHA0179910596600702
HP:0001257HP:0001258Spastic paraplegia2SCN8A CL E G H6334442835ORPHA0179910596600702
HP:0001257HP:0002478Progressive spastic quadriplegia2SCN8A CL E G H6334442835ORPHA0179910596600702
HP:0001257HP:0031957Spastic hemiparetic gait2SCN8A CL E G H6334442835ORPHA0179910596600702
HP:0001257HP:0031958Spastic paraparetic gait2SCN8A CL E G H6334442835ORPHA0179910596600702
HP:0001257HP:0002313Spastic paraparesis2SCYL1 CL E G H57410466794ORPHA012814372607982
HP:0001257HP:0001258Spastic paraplegia2SCYL1 CL E G H57410466794ORPHA012814372607982
HP:0001257HP:0002478Progressive spastic quadriplegia2SCYL1 CL E G H57410466794ORPHA012814372607982
HP:0001257HP:0031957Spastic hemiparetic gait2SCYL1 CL E G H57410466794ORPHA012814372607982
HP:0001257HP:0031958Spastic paraparetic gait2SCYL1 CL E G H57410466794ORPHA012814372607982
HP:0001257HP:0002313Spastic paraparesis2SCYL1 CL E G H57410616719Spinocerebellar ataxia, autosomal recessive 21616719C4225236OMIM012814372607982
HP:0001257HP:0001258Spastic paraplegia2SCYL1 CL E G H57410616719Spinocerebellar ataxia, autosomal recessive 21616719C4225236OMIM012814372607982
HP:0001257HP:0002478Progressive spastic quadriplegia2SCYL1 CL E G H57410616719Spinocerebellar ataxia, autosomal recessive 21616719C4225236OMIM012814372607982
HP:0001257HP:0031957Spastic hemiparetic gait2SCYL1 CL E G H57410616719Spinocerebellar ataxia, autosomal recessive 21616719C4225236OMIM012814372607982
HP:0001257HP:0031958Spastic paraparetic gait2SCYL1 CL E G H57410616719Spinocerebellar ataxia, autosomal recessive 21616719C4225236OMIM012814372607982
HP:0001257HP:0002313Spastic paraparesis2SETBP1 CL E G H26040798ORPHA0119015573611060
HP:0001257HP:0001258Spastic paraplegia2SETBP1 CL E G H26040798ORPHA0119015573611060
HP:0001257HP:0002478Progressive spastic quadriplegia2SETBP1 CL E G H26040798ORPHA0119015573611060
HP:0001257HP:0031957Spastic hemiparetic gait2SETBP1 CL E G H26040798ORPHA0119015573611060
HP:0001257HP:0031958Spastic paraparetic gait2SETBP1 CL E G H26040798ORPHA0119015573611060
HP:0001257HP:0002313Spastic paraparesis2SLC13A5 CL E G H284111442835ORPHA068523089608305
HP:0001257HP:0001258Spastic paraplegia2SLC13A5 CL E G H284111442835ORPHA068523089608305
HP:0001257HP:0002478Progressive spastic quadriplegia2SLC13A5 CL E G H284111442835ORPHA068523089608305
HP:0001257HP:0031957Spastic hemiparetic gait2SLC13A5 CL E G H284111442835ORPHA068523089608305
HP:0001257HP:0031958Spastic paraparetic gait2SLC13A5 CL E G H284111442835ORPHA068523089608305
HP:0001257HP:0002313Spastic paraparesis2SLC1A2 CL E G H6506442835ORPHA035910940600300
HP:0001257HP:0001258Spastic paraplegia2SLC1A2 CL E G H6506442835ORPHA035910940600300
HP:0001257HP:0002478Progressive spastic quadriplegia2SLC1A2 CL E G H6506442835ORPHA035910940600300
HP:0001257HP:0031957Spastic hemiparetic gait2SLC1A2 CL E G H6506442835ORPHA035910940600300
HP:0001257HP:0031958Spastic paraparetic gait2SLC1A2 CL E G H6506442835ORPHA035910940600300
HP:0001257HP:0002313Spastic paraparesis2SLC1A2 CL E G H6506617105Epileptic encephalopathy, early infantile, 41617105C4310717OMIM035910940600300
HP:0001257HP:0001258Spastic paraplegia2SLC1A2 CL E G H6506617105Epileptic encephalopathy, early infantile, 41617105C4310717OMIM035910940600300
HP:0001257HP:0002478Progressive spastic quadriplegia2SLC1A2 CL E G H6506617105Epileptic encephalopathy, early infantile, 41617105C4310717OMIM035910940600300
HP:0001257HP:0031957Spastic hemiparetic gait2SLC1A2 CL E G H6506617105Epileptic encephalopathy, early infantile, 41617105C4310717OMIM035910940600300
HP:0001257HP:0031958Spastic paraparetic gait2SLC1A2 CL E G H6506617105Epileptic encephalopathy, early infantile, 41617105C4310717OMIM035910940600300
HP:0001257HP:0002313Spastic paraparesis2SON CL E G H6651500150ORPHA0103111183182465
HP:0001257HP:0001258Spastic paraplegia2SON CL E G H6651500150ORPHA0103111183182465
HP:0001257HP:0002478Progressive spastic quadriplegia2SON CL E G H6651500150ORPHA0103111183182465
HP:0001257HP:0031957Spastic hemiparetic gait2SON CL E G H6651500150ORPHA0103111183182465
HP:0001257HP:0031958Spastic paraparetic gait2SON CL E G H6651500150ORPHA0103111183182465
HP:0001257HP:0002313Spastic paraparesis2SPTBN2 CL E G H6712352403ORPHA093811276604985
HP:0001257HP:0001258Spastic paraplegia2SPTBN2 CL E G H6712352403ORPHA093811276604985
HP:0001257HP:0002478Progressive spastic quadriplegia2SPTBN2 CL E G H6712352403ORPHA093811276604985
HP:0001257HP:0031957Spastic hemiparetic gait2SPTBN2 CL E G H6712352403ORPHA093811276604985
HP:0001257HP:0031958Spastic paraparetic gait2SPTBN2 CL E G H6712352403ORPHA093811276604985
HP:0001257HP:0002313Spastic paraparesis2SPTBN2 CL E G H6712615386Spinocerebellar ataxia, autosomal recessive 14615386C3809327OMIM093811276604985
HP:0001257HP:0001258Spastic paraplegia2SPTBN2 CL E G H6712615386Spinocerebellar ataxia, autosomal recessive 14615386C3809327OMIM093811276604985
HP:0001257HP:0002478Progressive spastic quadriplegia2SPTBN2 CL E G H6712615386Spinocerebellar ataxia, autosomal recessive 14615386C3809327OMIM093811276604985
HP:0001257HP:0031957Spastic hemiparetic gait2SPTBN2 CL E G H6712615386Spinocerebellar ataxia, autosomal recessive 14615386C3809327OMIM093811276604985
HP:0001257HP:0031958Spastic paraparetic gait2SPTBN2 CL E G H6712615386Spinocerebellar ataxia, autosomal recessive 14615386C3809327OMIM093811276604985
HP:0001257HP:0002313Spastic paraparesis2STUB1 CL E G H10273615768Spinocerebellar ataxia, autosomal recessive 16615768C4014261OMIM022611427607207
HP:0001257HP:0001258Spastic paraplegia2STUB1 CL E G H10273615768Spinocerebellar ataxia, autosomal recessive 16615768C4014261OMIM022611427607207
HP:0001257HP:0002478Progressive spastic quadriplegia2STUB1 CL E G H10273615768Spinocerebellar ataxia, autosomal recessive 16615768C4014261OMIM022611427607207
HP:0001257HP:0031957Spastic hemiparetic gait2STUB1 CL E G H10273615768Spinocerebellar ataxia, autosomal recessive 16615768C4014261OMIM022611427607207
HP:0001257HP:0031958Spastic paraparetic gait2STUB1 CL E G H10273615768Spinocerebellar ataxia, autosomal recessive 16615768C4014261OMIM022611427607207
HP:0001257HP:0002313Spastic paraparesis2STXBP1 CL E G H6812442835ORPHA0101711444602926
HP:0001257HP:0001258Spastic paraplegia2STXBP1 CL E G H6812442835ORPHA0101711444602926
HP:0001257HP:0002478Progressive spastic quadriplegia2STXBP1 CL E G H6812442835ORPHA0101711444602926
HP:0001257HP:0031957Spastic hemiparetic gait2STXBP1 CL E G H6812442835ORPHA0101711444602926
HP:0001257HP:0031958Spastic paraparetic gait2STXBP1 CL E G H6812442835ORPHA0101711444602926
HP:0001257HP:0002313Spastic paraparesis2SYNGAP1 CL E G H8831442835ORPHA0133511497603384
HP:0001257HP:0001258Spastic paraplegia2SYNGAP1 CL E G H8831442835ORPHA0133511497603384
HP:0001257HP:0002478Progressive spastic quadriplegia2SYNGAP1 CL E G H8831442835ORPHA0133511497603384
HP:0001257HP:0031957Spastic hemiparetic gait2SYNGAP1 CL E G H8831442835ORPHA0133511497603384
HP:0001257HP:0031958Spastic paraparetic gait2SYNGAP1 CL E G H8831442835ORPHA0133511497603384
HP:0001257HP:0002313Spastic paraparesis2SYNJ1 CL E G H8867442835ORPHA0131511503604297
HP:0001257HP:0001258Spastic paraplegia2SYNJ1 CL E G H8867442835ORPHA0131511503604297
HP:0001257HP:0002478Progressive spastic quadriplegia2SYNJ1 CL E G H8867442835ORPHA0131511503604297
HP:0001257HP:0031957Spastic hemiparetic gait2SYNJ1 CL E G H8867442835ORPHA0131511503604297
HP:0001257HP:0031958Spastic paraparetic gait2SYNJ1 CL E G H8867442835ORPHA0131511503604297
HP:0001257HP:0002313Spastic paraparesis2SZT2 CL E G H23334442835ORPHA0286229040615463
HP:0001257HP:0001258Spastic paraplegia2SZT2 CL E G H23334442835ORPHA0286229040615463
HP:0001257HP:0002478Progressive spastic quadriplegia2SZT2 CL E G H23334442835ORPHA0286229040615463
HP:0001257HP:0031957Spastic hemiparetic gait2SZT2 CL E G H23334442835ORPHA0286229040615463
HP:0001257HP:0031958Spastic paraparetic gait2SZT2 CL E G H23334442835ORPHA0286229040615463
HP:0001257HP:0002313Spastic paraparesis2TBC1D23 CL E G H55773617695PONTOCEREBELLAR HYPOPLASIA, TYPE 11617695C4540164OMIM09025622617687
HP:0001257HP:0001258Spastic paraplegia2TBC1D23 CL E G H55773617695PONTOCEREBELLAR HYPOPLASIA, TYPE 11617695C4540164OMIM09025622617687
HP:0001257HP:0002478Progressive spastic quadriplegia2TBC1D23 CL E G H55773617695PONTOCEREBELLAR HYPOPLASIA, TYPE 11617695C4540164OMIM09025622617687
HP:0001257HP:0031957Spastic hemiparetic gait2TBC1D23 CL E G H55773617695PONTOCEREBELLAR HYPOPLASIA, TYPE 11617695C4540164OMIM09025622617687
HP:0001257HP:0031958Spastic paraparetic gait2TBC1D23 CL E G H55773617695PONTOCEREBELLAR HYPOPLASIA, TYPE 11617695C4540164OMIM09025622617687
HP:0001257HP:0002313Spastic paraparesis2TIMM50 CL E G H926096176983-METHYLGLUTACONIC ACIDURIA, TYPE IX617698C4540171OMIM035723656607381
HP:0001257HP:0001258Spastic paraplegia2TIMM50 CL E G H926096176983-METHYLGLUTACONIC ACIDURIA, TYPE IX617698C4540171OMIM035723656607381
HP:0001257HP:0002478Progressive spastic quadriplegia2TIMM50 CL E G H926096176983-METHYLGLUTACONIC ACIDURIA, TYPE IX617698C4540171OMIM035723656607381
HP:0001257HP:0031957Spastic hemiparetic gait2TIMM50 CL E G H926096176983-METHYLGLUTACONIC ACIDURIA, TYPE IX617698C4540171OMIM035723656607381
HP:0001257HP:0031958Spastic paraparetic gait2TIMM50 CL E G H926096176983-METHYLGLUTACONIC ACIDURIA, TYPE IX617698C4540171OMIM035723656607381
HP:0001257HP:0002313Spastic paraparesis2TRAK1 CL E G H22906442835ORPHA020829947608112
HP:0001257HP:0001258Spastic paraplegia2TRAK1 CL E G H22906442835ORPHA020829947608112
HP:0001257HP:0002478Progressive spastic quadriplegia2TRAK1 CL E G H22906442835ORPHA020829947608112
HP:0001257HP:0031957Spastic hemiparetic gait2TRAK1 CL E G H22906442835ORPHA020829947608112
HP:0001257HP:0031958Spastic paraparetic gait2TRAK1 CL E G H22906442835ORPHA020829947608112
HP:0001257HP:0002313Spastic paraparesis2TSEN15 CL E G H116461617026Pontocerebellar hypoplasia, type 2f617026C4310757OMIM06516791608756
HP:0001257HP:0001258Spastic paraplegia2TSEN15 CL E G H116461617026Pontocerebellar hypoplasia, type 2f617026C4310757OMIM06516791608756
HP:0001257HP:0002478Progressive spastic quadriplegia2TSEN15 CL E G H116461617026Pontocerebellar hypoplasia, type 2f617026C4310757OMIM06516791608756
HP:0001257HP:0031957Spastic hemiparetic gait2TSEN15 CL E G H116461617026Pontocerebellar hypoplasia, type 2f617026C4310757OMIM06516791608756
HP:0001257HP:0031958Spastic paraparetic gait2TSEN15 CL E G H116461617026Pontocerebellar hypoplasia, type 2f617026C4310757OMIM06516791608756
HP:0001257HP:0002313Spastic paraparesis2UBA5 CL E G H79876442835ORPHA022323230610552
HP:0001257HP:0001258Spastic paraplegia2UBA5 CL E G H79876442835ORPHA022323230610552
HP:0001257HP:0002478Progressive spastic quadriplegia2UBA5 CL E G H79876442835ORPHA022323230610552
HP:0001257HP:0031957Spastic hemiparetic gait2UBA5 CL E G H79876442835ORPHA022323230610552
HP:0001257HP:0031958Spastic paraparetic gait2UBA5 CL E G H79876442835ORPHA022323230610552
HP:0001257HP:0002313Spastic paraparesis2VPS13C CL E G H54832616840Parkinson disease 23, autosomal recessive early-onset616840C4225186OMIM082823594608879
HP:0001257HP:0001258Spastic paraplegia2VPS13C CL E G H54832616840Parkinson disease 23, autosomal recessive early-onset616840C4225186OMIM082823594608879
HP:0001257HP:0002478Progressive spastic quadriplegia2VPS13C CL E G H54832616840Parkinson disease 23, autosomal recessive early-onset616840C4225186OMIM082823594608879
HP:0001257HP:0031957Spastic hemiparetic gait2VPS13C CL E G H54832616840Parkinson disease 23, autosomal recessive early-onset616840C4225186OMIM082823594608879
HP:0001257HP:0031958Spastic paraparetic gait2VPS13C CL E G H54832616840Parkinson disease 23, autosomal recessive early-onset616840C4225186OMIM082823594608879
HP:0001257HP:0002313Spastic paraparesis2WASHC4 CL E G H23325615817Mental retardation, autosomal recessive 43615817C4014386OMIM011229174615748
HP:0001257HP:0001258Spastic paraplegia2WASHC4 CL E G H23325615817Mental retardation, autosomal recessive 43615817C4014386OMIM011229174615748
HP:0001257HP:0002478Progressive spastic quadriplegia2WASHC4 CL E G H23325615817Mental retardation, autosomal recessive 43615817C4014386OMIM011229174615748
HP:0001257HP:0031957Spastic hemiparetic gait2WASHC4 CL E G H23325615817Mental retardation, autosomal recessive 43615817C4014386OMIM011229174615748
HP:0001257HP:0031958Spastic paraparetic gait2WASHC4 CL E G H23325615817Mental retardation, autosomal recessive 43615817C4014386OMIM011229174615748
HP:0001257HP:0002313Spastic paraparesis2WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM022025928616144
HP:0001257HP:0001258Spastic paraplegia2WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM022025928616144
HP:0001257HP:0002478Progressive spastic quadriplegia2WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM022025928616144
HP:0001257HP:0031957Spastic hemiparetic gait2WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM022025928616144
HP:0001257HP:0031958Spastic paraparetic gait2WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM022025928616144
HP:0001257HP:0002313Spastic paraparesis2WWOX CL E G H51741442835ORPHA0110212799605131
HP:0001257HP:0001258Spastic paraplegia2WWOX CL E G H51741442835ORPHA0110212799605131
HP:0001257HP:0002478Progressive spastic quadriplegia2WWOX CL E G H51741442835ORPHA0110212799605131
HP:0001257HP:0031957Spastic hemiparetic gait2WWOX CL E G H51741442835ORPHA0110212799605131
HP:0001257HP:0031958Spastic paraparetic gait2WWOX CL E G H51741442835ORPHA0110212799605131
HP:0001257HP:0002313Spastic paraparesis2WWOX CL E G H51741614322Spinocerebellar ataxia, autosomal recessive 12614322C3280452OMIM0110212799605131
HP:0001257HP:0001258Spastic paraplegia2WWOX CL E G H51741614322Spinocerebellar ataxia, autosomal recessive 12614322C3280452OMIM0110212799605131
HP:0001257HP:0002478Progressive spastic quadriplegia2WWOX CL E G H51741614322Spinocerebellar ataxia, autosomal recessive 12614322C3280452OMIM0110212799605131
HP:0001257HP:0031957Spastic hemiparetic gait2WWOX CL E G H51741614322Spinocerebellar ataxia, autosomal recessive 12614322C3280452OMIM0110212799605131
HP:0001257HP:0031958Spastic paraparetic gait2WWOX CL E G H51741614322Spinocerebellar ataxia, autosomal recessive 12614322C3280452OMIM0110212799605131
HP:0001257HP:0002313Spastic paraparesis2XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA032112814611153
HP:0001257HP:0001258Spastic paraplegia2XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA032112814611153
HP:0001257HP:0002478Progressive spastic quadriplegia2XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA032112814611153
HP:0001257HP:0031957Spastic hemiparetic gait2XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA032112814611153
HP:0001257HP:0031958Spastic paraparetic gait2XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA032112814611153
HP:0001257HP:0002313Spastic paraparesis2XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA078812816613208
HP:0001257HP:0001258Spastic paraplegia2XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA078812816613208
HP:0001257HP:0002478Progressive spastic quadriplegia2XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA078812816613208
HP:0001257HP:0031957Spastic hemiparetic gait2XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA078812816613208
HP:0001257HP:0031958Spastic paraparetic gait2XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA078812816613208
HP:0001257HP:0002313Spastic paraparesis2YWHAG CL E G H7532442835ORPHA018912852605356
HP:0001257HP:0001258Spastic paraplegia2YWHAG CL E G H7532442835ORPHA018912852605356
HP:0001257HP:0002478Progressive spastic quadriplegia2YWHAG CL E G H7532442835ORPHA018912852605356
HP:0001257HP:0031957Spastic hemiparetic gait2YWHAG CL E G H7532442835ORPHA018912852605356
HP:0001257HP:0031958Spastic paraparetic gait2YWHAG CL E G H7532442835ORPHA018912852605356
HP:0001257HP:0007199Progressive spastic paraparesis3AARS CL E G H16442835ORPHA020601065
HP:0001257HP:0007020Progressive spastic paraplegia3AARS CL E G H16442835ORPHA020601065
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3AARS CL E G H16442835ORPHA020601065
HP:0001257HP:0012407Scissor gait3AARS CL E G H16442835ORPHA020601065
HP:0001257HP:0007199Progressive spastic paraparesis3ADAT3 CL E G H113179615286Mental retardation, autosomal recessive 36615286C3809039OMIM012725151615302
HP:0001257HP:0007020Progressive spastic paraplegia3ADAT3 CL E G H113179615286Mental retardation, autosomal recessive 36615286C3809039OMIM012725151615302
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3ADAT3 CL E G H113179615286Mental retardation, autosomal recessive 36615286C3809039OMIM012725151615302
HP:0001257HP:0012407Scissor gait3ADAT3 CL E G H113179615286Mental retardation, autosomal recessive 36615286C3809039OMIM012725151615302
HP:0001257HP:0007199Progressive spastic paraparesis3AFG3L2 CL E G H10939101109ORPHA0480315604581
HP:0001257HP:0007020Progressive spastic paraplegia3AFG3L2 CL E G H10939101109ORPHA0480315604581
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3AFG3L2 CL E G H10939101109ORPHA0480315604581
HP:0001257HP:0012407Scissor gait3AFG3L2 CL E G H10939101109ORPHA0480315604581
HP:0001257HP:0007199Progressive spastic paraparesis3AGTPBP1 CL E G H23287618276618276618276OMIM010517258606830
HP:0001257HP:0007020Progressive spastic paraplegia3AGTPBP1 CL E G H23287618276618276618276OMIM010517258606830
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3AGTPBP1 CL E G H23287618276618276618276OMIM010517258606830
HP:0001257HP:0012407Scissor gait3AGTPBP1 CL E G H23287618276618276618276OMIM010517258606830
HP:0001257HP:0007199Progressive spastic paraparesis3AP3B2 CL E G H8120442835ORPHA0690567602166
HP:0001257HP:0007020Progressive spastic paraplegia3AP3B2 CL E G H8120442835ORPHA0690567602166
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3AP3B2 CL E G H8120442835ORPHA0690567602166
HP:0001257HP:0012407Scissor gait3AP3B2 CL E G H8120442835ORPHA0690567602166
HP:0001257HP:0007199Progressive spastic paraparesis3ARSA CL E G H410309256ORPHA01140713607574
HP:0001257HP:0007020Progressive spastic paraplegia3ARSA CL E G H410309256ORPHA01140713607574
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3ARSA CL E G H410309256ORPHA01140713607574
HP:0001257HP:0012407Scissor gait3ARSA CL E G H410309256ORPHA01140713607574
HP:0001257HP:0007199Progressive spastic paraparesis3ARSA CL E G H410309263ORPHA01140713607574
HP:0001257HP:0007020Progressive spastic paraplegia3ARSA CL E G H410309263ORPHA01140713607574
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3ARSA CL E G H410309263ORPHA01140713607574
HP:0001257HP:0012407Scissor gait3ARSA CL E G H410309263ORPHA01140713607574
HP:0001257HP:0007199Progressive spastic paraparesis3ARV1 CL E G H64801442835ORPHA08929561611647
HP:0001257HP:0007020Progressive spastic paraplegia3ARV1 CL E G H64801442835ORPHA08929561611647
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3ARV1 CL E G H64801442835ORPHA08929561611647
HP:0001257HP:0012407Scissor gait3ARV1 CL E G H64801442835ORPHA08929561611647
HP:0001257HP:0007199Progressive spastic paraparesis3ARX CL E G H170302452ORPHA081018060300382
HP:0001257HP:0007020Progressive spastic paraplegia3ARX CL E G H170302452ORPHA081018060300382
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3ARX CL E G H170302452ORPHA081018060300382
HP:0001257HP:0012407Scissor gait3ARX CL E G H170302452ORPHA081018060300382
HP:0001257HP:0007199Progressive spastic paraparesis3ATP6AP2 CL E G H10159300911Parkinsonism with spasticity, X-linked300911C3806722OMIM034018305300556
HP:0001257HP:0007020Progressive spastic paraplegia3ATP6AP2 CL E G H10159300911Parkinsonism with spasticity, X-linked300911C3806722OMIM034018305300556
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3ATP6AP2 CL E G H10159300911Parkinsonism with spasticity, X-linked300911C3806722OMIM034018305300556
HP:0001257HP:0012407Scissor gait3ATP6AP2 CL E G H10159300911Parkinsonism with spasticity, X-linked300911C3806722OMIM034018305300556
HP:0001257HP:0007199Progressive spastic paraparesis3ATP6V1A CL E G H523442835ORPHA0229851607027
HP:0001257HP:0007020Progressive spastic paraplegia3ATP6V1A CL E G H523442835ORPHA0229851607027
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3ATP6V1A CL E G H523442835ORPHA0229851607027
HP:0001257HP:0012407Scissor gait3ATP6V1A CL E G H523442835ORPHA0229851607027
HP:0001257HP:0007199Progressive spastic paraparesis3ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM0657106607047
HP:0001257HP:0007020Progressive spastic paraplegia3ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM0657106607047
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM0657106607047
HP:0001257HP:0012407Scissor gait3ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM0657106607047
HP:0001257HP:0007199Progressive spastic paraparesis3BEAN1 CL E G H146227217012ORPHA05624160612051
HP:0001257HP:0007020Progressive spastic paraplegia3BEAN1 CL E G H146227217012ORPHA05624160612051
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3BEAN1 CL E G H146227217012ORPHA05624160612051
HP:0001257HP:0012407Scissor gait3BEAN1 CL E G H146227217012ORPHA05624160612051
HP:0001257HP:0007199Progressive spastic paraparesis3BICD2 CL E G H23299615290Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant615290C3809049OMIM074017208609797
HP:0001257HP:0007020Progressive spastic paraplegia3BICD2 CL E G H23299615290Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant615290C3809049OMIM074017208609797
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3BICD2 CL E G H23299615290Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant615290C3809049OMIM074017208609797
HP:0001257HP:0012407Scissor gait3BICD2 CL E G H23299615290Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant615290C3809049OMIM074017208609797
HP:0001257HP:0007199Progressive spastic paraparesis3CACNA1A CL E G H773442835ORPHA032481388601011
HP:0001257HP:0007020Progressive spastic paraplegia3CACNA1A CL E G H773442835ORPHA032481388601011
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3CACNA1A CL E G H773442835ORPHA032481388601011
HP:0001257HP:0012407Scissor gait3CACNA1A CL E G H773442835ORPHA032481388601011
HP:0001257HP:0007199Progressive spastic paraparesis3CASK CL E G H8573163937ORPHA08441497300172
HP:0001257HP:0007020Progressive spastic paraplegia3CASK CL E G H8573163937ORPHA08441497300172
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3CASK CL E G H8573163937ORPHA08441497300172
HP:0001257HP:0012407Scissor gait3CASK CL E G H8573163937ORPHA08441497300172
HP:0001257HP:0007199Progressive spastic paraparesis3CLIC2 CL E G H1193300886Mental retardation, X-linked, syndromic 32300886C3550913OMIM02702063300138
HP:0001257HP:0007020Progressive spastic paraplegia3CLIC2 CL E G H1193300886Mental retardation, X-linked, syndromic 32300886C3550913OMIM02702063300138
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3CLIC2 CL E G H1193300886Mental retardation, X-linked, syndromic 32300886C3550913OMIM02702063300138
HP:0001257HP:0012407Scissor gait3CLIC2 CL E G H1193300886Mental retardation, X-linked, syndromic 32300886C3550913OMIM02702063300138
HP:0001257HP:0007199Progressive spastic paraparesis3CLTC CL E G H1213442835ORPHA06452092118955
HP:0001257HP:0007020Progressive spastic paraplegia3CLTC CL E G H1213442835ORPHA06452092118955
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3CLTC CL E G H1213442835ORPHA06452092118955
HP:0001257HP:0012407Scissor gait3CLTC CL E G H1213442835ORPHA06452092118955
HP:0001257HP:0007199Progressive spastic paraparesis3CNKSR2 CL E G H22866442835ORPHA030619701300724
HP:0001257HP:0007020Progressive spastic paraplegia3CNKSR2 CL E G H22866442835ORPHA030619701300724
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3CNKSR2 CL E G H22866442835ORPHA030619701300724
HP:0001257HP:0012407Scissor gait3CNKSR2 CL E G H22866442835ORPHA030619701300724
HP:0001257HP:0007199Progressive spastic paraparesis3CYFIP2 CL E G H26999442835ORPHA066813760606323
HP:0001257HP:0007020Progressive spastic paraplegia3CYFIP2 CL E G H26999442835ORPHA066813760606323
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3CYFIP2 CL E G H26999442835ORPHA066813760606323
HP:0001257HP:0012407Scissor gait3CYFIP2 CL E G H26999442835ORPHA066813760606323
HP:0001257HP:0007199Progressive spastic paraparesis3DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01422718600811
HP:0001257HP:0007020Progressive spastic paraplegia3DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01422718600811
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01422718600811
HP:0001257HP:0012407Scissor gait3DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01422718600811
HP:0001257HP:0007199Progressive spastic paraparesis3DDX3X CL E G H1654300958Mental retardation, X-linked 102300958C4085582OMIM07452745300160
HP:0001257HP:0007020Progressive spastic paraplegia3DDX3X CL E G H1654300958Mental retardation, X-linked 102300958C4085582OMIM07452745300160
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3DDX3X CL E G H1654300958Mental retardation, X-linked 102300958C4085582OMIM07452745300160
HP:0001257HP:0012407Scissor gait3DDX3X CL E G H1654300958Mental retardation, X-linked 102300958C4085582OMIM07452745300160
HP:0001257HP:0007199Progressive spastic paraparesis3DHDDS CL E G H79947442835ORPHA043420603608172
HP:0001257HP:0007020Progressive spastic paraplegia3DHDDS CL E G H79947442835ORPHA043420603608172
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3DHDDS CL E G H79947442835ORPHA043420603608172
HP:0001257HP:0012407Scissor gait3DHDDS CL E G H79947442835ORPHA043420603608172
HP:0001257HP:0007199Progressive spastic paraparesis3DNM1 CL E G H1759442835ORPHA07652972602377
HP:0001257HP:0007020Progressive spastic paraplegia3DNM1 CL E G H1759442835ORPHA07652972602377
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3DNM1 CL E G H1759442835ORPHA07652972602377
HP:0001257HP:0012407Scissor gait3DNM1 CL E G H1759442835ORPHA07652972602377
HP:0001257HP:0007199Progressive spastic paraparesis3DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0001257HP:0007020Progressive spastic paraplegia3DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0001257HP:0012407Scissor gait3DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0001257HP:0007199Progressive spastic paraparesis3EEF1A2 CL E G H1917442835ORPHA05753192602959
HP:0001257HP:0007020Progressive spastic paraplegia3EEF1A2 CL E G H1917442835ORPHA05753192602959
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3EEF1A2 CL E G H1917442835ORPHA05753192602959
HP:0001257HP:0012407Scissor gait3EEF1A2 CL E G H1917442835ORPHA05753192602959
HP:0001257HP:0007199Progressive spastic paraparesis3EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM02083267300161
HP:0001257HP:0007020Progressive spastic paraplegia3EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM02083267300161
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM02083267300161
HP:0001257HP:0012407Scissor gait3EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM02083267300161
HP:0001257HP:0007199Progressive spastic paraparesis3ELOVL4 CL E G H6785133190Erythrokeratodermia with ataxia133190C1851481OMIM029714415605512
HP:0001257HP:0007020Progressive spastic paraplegia3ELOVL4 CL E G H6785133190Erythrokeratodermia with ataxia133190C1851481OMIM029714415605512
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3ELOVL4 CL E G H6785133190Erythrokeratodermia with ataxia133190C1851481OMIM029714415605512
HP:0001257HP:0012407Scissor gait3ELOVL4 CL E G H6785133190Erythrokeratodermia with ataxia133190C1851481OMIM029714415605512
HP:0001257HP:0007199Progressive spastic paraparesis3ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA015723434126340
HP:0001257HP:0007020Progressive spastic paraplegia3ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA015723434126340
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA015723434126340
HP:0001257HP:0012407Scissor gait3ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA015723434126340
HP:0001257HP:0007199Progressive spastic paraparesis3ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA05233435133510
HP:0001257HP:0007020Progressive spastic paraplegia3ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA05233435133510
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA05233435133510
HP:0001257HP:0012407Scissor gait3ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA05233435133510
HP:0001257HP:0007199Progressive spastic paraparesis3ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA07263436133520
HP:0001257HP:0007020Progressive spastic paraplegia3ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA07263436133520
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA07263436133520
HP:0001257HP:0012407Scissor gait3ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA07263436133520
HP:0001257HP:0007199Progressive spastic paraparesis3ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA04913437133530
HP:0001257HP:0007020Progressive spastic paraplegia3ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA04913437133530
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA04913437133530
HP:0001257HP:0012407Scissor gait3ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA04913437133530
HP:0001257HP:0007199Progressive spastic paraparesis3ERCC5 CL E G H2073278780Xeroderma pigmentosum, group G278780C0268141OMIM04913437133530
HP:0001257HP:0007020Progressive spastic paraplegia3ERCC5 CL E G H2073278780Xeroderma pigmentosum, group G278780C0268141OMIM04913437133530
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3ERCC5 CL E G H2073278780Xeroderma pigmentosum, group G278780C0268141OMIM04913437133530
HP:0001257HP:0012407Scissor gait3ERCC5 CL E G H2073278780Xeroderma pigmentosum, group G278780C0268141OMIM04913437133530
HP:0001257HP:0007199Progressive spastic paraparesis3ERLIN1 CL E G H10613615681Spastic paraplegia 62, autosomal recessive615681C4284588OMIM013616947611604
HP:0001257HP:0007020Progressive spastic paraplegia3ERLIN1 CL E G H10613615681Spastic paraplegia 62, autosomal recessive615681C4284588OMIM013616947611604
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3ERLIN1 CL E G H10613615681Spastic paraplegia 62, autosomal recessive615681C4284588OMIM013616947611604
HP:0001257HP:0012407Scissor gait3ERLIN1 CL E G H10613615681Spastic paraplegia 62, autosomal recessive615681C4284588OMIM013616947611604
HP:0001257HP:0007199Progressive spastic paraparesis3FGF12 CL E G H2257442835ORPHA02593668601513
HP:0001257HP:0007020Progressive spastic paraplegia3FGF12 CL E G H2257442835ORPHA02593668601513
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3FGF12 CL E G H2257442835ORPHA02593668601513
HP:0001257HP:0012407Scissor gait3FGF12 CL E G H2257442835ORPHA02593668601513
HP:0001257HP:0007199Progressive spastic paraparesis3FXN CL E G H239595ORPHA01583951606829
HP:0001257HP:0007020Progressive spastic paraplegia3FXN CL E G H239595ORPHA01583951606829
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3FXN CL E G H239595ORPHA01583951606829
HP:0001257HP:0012407Scissor gait3FXN CL E G H239595ORPHA01583951606829
HP:0001257HP:0007199Progressive spastic paraparesis3GABRB2 CL E G H2561442835ORPHA04944082600232
HP:0001257HP:0007020Progressive spastic paraplegia3GABRB2 CL E G H2561442835ORPHA04944082600232
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3GABRB2 CL E G H2561442835ORPHA04944082600232
HP:0001257HP:0012407Scissor gait3GABRB2 CL E G H2561442835ORPHA04944082600232
HP:0001257HP:0007199Progressive spastic paraparesis3GRIN2D CL E G H2906442835ORPHA08234588602717
HP:0001257HP:0007020Progressive spastic paraplegia3GRIN2D CL E G H2906442835ORPHA08234588602717
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3GRIN2D CL E G H2906442835ORPHA08234588602717
HP:0001257HP:0012407Scissor gait3GRIN2D CL E G H2906442835ORPHA08234588602717
HP:0001257HP:0007199Progressive spastic paraparesis3GRM1 CL E G H2911617691SPINOCEREBELLAR ATAXIA 44617691C4521563OMIM02984593604473
HP:0001257HP:0007020Progressive spastic paraplegia3GRM1 CL E G H2911617691SPINOCEREBELLAR ATAXIA 44617691C4521563OMIM02984593604473
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3GRM1 CL E G H2911617691SPINOCEREBELLAR ATAXIA 44617691C4521563OMIM02984593604473
HP:0001257HP:0012407Scissor gait3GRM1 CL E G H2911617691SPINOCEREBELLAR ATAXIA 44617691C4521563OMIM02984593604473
HP:0001257HP:0007199Progressive spastic paraparesis3HCN1 CL E G H348980442835ORPHA07964845602780
HP:0001257HP:0007020Progressive spastic paraplegia3HCN1 CL E G H348980442835ORPHA07964845602780
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3HCN1 CL E G H348980442835ORPHA07964845602780
HP:0001257HP:0012407Scissor gait3HCN1 CL E G H348980442835ORPHA07964845602780
HP:0001257HP:0007199Progressive spastic paraparesis3IARS CL E G H3376617093Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy617093C4310720OMIM05330600709
HP:0001257HP:0007020Progressive spastic paraplegia3IARS CL E G H3376617093Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy617093C4310720OMIM05330600709
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3IARS CL E G H3376617093Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy617093C4310720OMIM05330600709
HP:0001257HP:0012407Scissor gait3IARS CL E G H3376617093Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy617093C4310720OMIM05330600709
HP:0001257HP:0007199Progressive spastic paraparesis3IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA03875961300248
HP:0001257HP:0007020Progressive spastic paraplegia3IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA03875961300248
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA03875961300248
HP:0001257HP:0012407Scissor gait3IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA03875961300248
HP:0001257HP:0007199Progressive spastic paraparesis3KATNB1 CL E G H10300616212Lissencephaly 6, with microcephaly616212C4015525OMIM03146217602703
HP:0001257HP:0007020Progressive spastic paraplegia3KATNB1 CL E G H10300616212Lissencephaly 6, with microcephaly616212C4015525OMIM03146217602703
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3KATNB1 CL E G H10300616212Lissencephaly 6, with microcephaly616212C4015525OMIM03146217602703
HP:0001257HP:0012407Scissor gait3KATNB1 CL E G H10300616212Lissencephaly 6, with microcephaly616212C4015525OMIM03146217602703
HP:0001257HP:0007199Progressive spastic paraparesis3KCNA2 CL E G H3737442835ORPHA04016220176262
HP:0001257HP:0007020Progressive spastic paraplegia3KCNA2 CL E G H3737442835ORPHA04016220176262
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3KCNA2 CL E G H3737442835ORPHA04016220176262
HP:0001257HP:0012407Scissor gait3KCNA2 CL E G H3737442835ORPHA04016220176262
HP:0001257HP:0007199Progressive spastic paraparesis3KCNB1 CL E G H3745442835ORPHA06356231600397
HP:0001257HP:0007020Progressive spastic paraplegia3KCNB1 CL E G H3745442835ORPHA06356231600397
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3KCNB1 CL E G H3745442835ORPHA06356231600397
HP:0001257HP:0012407Scissor gait3KCNB1 CL E G H3745442835ORPHA06356231600397
HP:0001257HP:0007199Progressive spastic paraparesis3KIF11 CL E G H38322526ORPHA07696388148760
HP:0001257HP:0007020Progressive spastic paraplegia3KIF11 CL E G H38322526ORPHA07696388148760
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3KIF11 CL E G H38322526ORPHA07696388148760
HP:0001257HP:0012407Scissor gait3KIF11 CL E G H38322526ORPHA07696388148760
HP:0001257HP:0007199Progressive spastic paraparesis3KIF1A CL E G H547614255Mental retardation, autosomal dominant 9614255C3280283OMIM02622888601255
HP:0001257HP:0007020Progressive spastic paraplegia3KIF1A CL E G H547614255Mental retardation, autosomal dominant 9614255C3280283OMIM02622888601255
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3KIF1A CL E G H547614255Mental retardation, autosomal dominant 9614255C3280283OMIM02622888601255
HP:0001257HP:0012407Scissor gait3KIF1A CL E G H547614255Mental retardation, autosomal dominant 9614255C3280283OMIM02622888601255
HP:0001257HP:0007199Progressive spastic paraparesis3KMT2B CL E G H9757617284Dystonia 28, childhood-onset617284C4310633OMIM0130315840606834
HP:0001257HP:0007020Progressive spastic paraplegia3KMT2B CL E G H9757617284Dystonia 28, childhood-onset617284C4310633OMIM0130315840606834
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3KMT2B CL E G H9757617284Dystonia 28, childhood-onset617284C4310633OMIM0130315840606834
HP:0001257HP:0012407Scissor gait3KMT2B CL E G H9757617284Dystonia 28, childhood-onset617284C4310633OMIM0130315840606834
HP:0001257HP:0007199Progressive spastic paraparesis3LINGO1 CL E G H84894618103MENTAL RETARDATION, AUTOSOMAL RECESSIVE 64618103CN253431OMIM07821205609791
HP:0001257HP:0007020Progressive spastic paraplegia3LINGO1 CL E G H84894618103MENTAL RETARDATION, AUTOSOMAL RECESSIVE 64618103CN253431OMIM07821205609791
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3LINGO1 CL E G H84894618103MENTAL RETARDATION, AUTOSOMAL RECESSIVE 64618103CN253431OMIM07821205609791
HP:0001257HP:0012407Scissor gait3LINGO1 CL E G H84894618103MENTAL RETARDATION, AUTOSOMAL RECESSIVE 64618103CN253431OMIM07821205609791
HP:0001257HP:0007199Progressive spastic paraparesis3MCCC1 CL E G H569226Intellectual disability (mild)CN240508ORPHA07206936609010
HP:0001257HP:0007020Progressive spastic paraplegia3MCCC1 CL E G H569226Intellectual disability (mild)CN240508ORPHA07206936609010
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3MCCC1 CL E G H569226Intellectual disability (mild)CN240508ORPHA07206936609010
HP:0001257HP:0012407Scissor gait3MCCC1 CL E G H569226Intellectual disability (mild)CN240508ORPHA07206936609010
HP:0001257HP:0007199Progressive spastic paraparesis3MCCC2 CL E G H640876Intellectual disability (mild)CN240508ORPHA06446937609014
HP:0001257HP:0007020Progressive spastic paraplegia3MCCC2 CL E G H640876Intellectual disability (mild)CN240508ORPHA06446937609014
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3MCCC2 CL E G H640876Intellectual disability (mild)CN240508ORPHA06446937609014
HP:0001257HP:0012407Scissor gait3MCCC2 CL E G H640876Intellectual disability (mild)CN240508ORPHA06446937609014
HP:0001257HP:0007199Progressive spastic paraparesis3MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM015119691608205
HP:0001257HP:0007020Progressive spastic paraplegia3MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM015119691608205
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM015119691608205
HP:0001257HP:0012407Scissor gait3MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM015119691608205
HP:0001257HP:0007199Progressive spastic paraparesis3MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM0122216877608507
HP:0001257HP:0007020Progressive spastic paraplegia3MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM0122216877608507
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM0122216877608507
HP:0001257HP:0012407Scissor gait3MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM0122216877608507
HP:0001257HP:0007199Progressive spastic paraparesis3MTO1 CL E G H25821614702Combined oxidative phosphorylation deficiency 10614702C3553529OMIM063819261614667
HP:0001257HP:0007020Progressive spastic paraplegia3MTO1 CL E G H25821614702Combined oxidative phosphorylation deficiency 10614702C3553529OMIM063819261614667
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3MTO1 CL E G H25821614702Combined oxidative phosphorylation deficiency 10614702C3553529OMIM063819261614667
HP:0001257HP:0012407Scissor gait3MTO1 CL E G H25821614702Combined oxidative phosphorylation deficiency 10614702C3553529OMIM063819261614667
HP:0001257HP:0007199Progressive spastic paraparesis3MYO5A CL E G H464433445ORPHA03377602160777
HP:0001257HP:0007020Progressive spastic paraplegia3MYO5A CL E G H464433445ORPHA03377602160777
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3MYO5A CL E G H464433445ORPHA03377602160777
HP:0001257HP:0012407Scissor gait3MYO5A CL E G H464433445ORPHA03377602160777
HP:0001257HP:0007199Progressive spastic paraparesis3NECAP1 CL E G H25977442835ORPHA022124539611623
HP:0001257HP:0007020Progressive spastic paraplegia3NECAP1 CL E G H25977442835ORPHA022124539611623
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3NECAP1 CL E G H25977442835ORPHA022124539611623
HP:0001257HP:0012407Scissor gait3NECAP1 CL E G H25977442835ORPHA022124539611623
HP:0001257HP:0007199Progressive spastic paraparesis3NEFL CL E G H4747617882CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G617882CN847583OMIM06147739162280
HP:0001257HP:0007020Progressive spastic paraplegia3NEFL CL E G H4747617882CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G617882CN847583OMIM06147739162280
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3NEFL CL E G H4747617882CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G617882CN847583OMIM06147739162280
HP:0001257HP:0012407Scissor gait3NEFL CL E G H4747617882CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G617882CN847583OMIM06147739162280
HP:0001257HP:0007199Progressive spastic paraparesis3NTRK2 CL E G H4915442835ORPHA05098032600456
HP:0001257HP:0007020Progressive spastic paraplegia3NTRK2 CL E G H4915442835ORPHA05098032600456
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3NTRK2 CL E G H4915442835ORPHA05098032600456
HP:0001257HP:0012407Scissor gait3NTRK2 CL E G H4915442835ORPHA05098032600456
HP:0001257HP:0007199Progressive spastic paraparesis3NUS1 CL E G H116150442835ORPHA032621042610463
HP:0001257HP:0007020Progressive spastic paraplegia3NUS1 CL E G H116150442835ORPHA032621042610463
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3NUS1 CL E G H116150442835ORPHA032621042610463
HP:0001257HP:0012407Scissor gait3NUS1 CL E G H116150442835ORPHA032621042610463
HP:0001257HP:0007199Progressive spastic paraparesis3OPA1 CL E G H4976125250Autosomal dominant optic atrophy plus syndrome125250C1852267OMIM012248140605290
HP:0001257HP:0007020Progressive spastic paraplegia3OPA1 CL E G H4976125250Autosomal dominant optic atrophy plus syndrome125250C1852267OMIM012248140605290
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3OPA1 CL E G H4976125250Autosomal dominant optic atrophy plus syndrome125250C1852267OMIM012248140605290
HP:0001257HP:0012407Scissor gait3OPA1 CL E G H4976125250Autosomal dominant optic atrophy plus syndrome125250C1852267OMIM012248140605290
HP:0001257HP:0007199Progressive spastic paraparesis3PGAP1 CL E G H80055615802Mental retardation, autosomal recessive 42615802C4014343OMIM037925712611655
HP:0001257HP:0007020Progressive spastic paraplegia3PGAP1 CL E G H80055615802Mental retardation, autosomal recessive 42615802C4014343OMIM037925712611655
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3PGAP1 CL E G H80055615802Mental retardation, autosomal recessive 42615802C4014343OMIM037925712611655
HP:0001257HP:0012407Scissor gait3PGAP1 CL E G H80055615802Mental retardation, autosomal recessive 42615802C4014343OMIM037925712611655
HP:0001257HP:0007199Progressive spastic paraparesis3PNPLA6 CL E G H10908215470Boucher Neuhauser syndrome215470C1859093OMIM0121616268603197
HP:0001257HP:0007020Progressive spastic paraplegia3PNPLA6 CL E G H10908215470Boucher Neuhauser syndrome215470C1859093OMIM0121616268603197
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3PNPLA6 CL E G H10908215470Boucher Neuhauser syndrome215470C1859093OMIM0121616268603197
HP:0001257HP:0012407Scissor gait3PNPLA6 CL E G H10908215470Boucher Neuhauser syndrome215470C1859093OMIM0121616268603197
HP:0001257HP:0007199Progressive spastic paraparesis3POLR1C CL E G H9533616494Leukodystrophy, hypomyelinating, 11616494C4225305OMIM0194420194610060
HP:0001257HP:0007020Progressive spastic paraplegia3POLR1C CL E G H9533616494Leukodystrophy, hypomyelinating, 11616494C4225305OMIM0194420194610060
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3POLR1C CL E G H9533616494Leukodystrophy, hypomyelinating, 11616494C4225305OMIM0194420194610060
HP:0001257HP:0012407Scissor gait3POLR1C CL E G H9533616494Leukodystrophy, hypomyelinating, 11616494C4225305OMIM0194420194610060
HP:0001257HP:0007199Progressive spastic paraparesis3PPP3CA CL E G H5530442835ORPHA03519314114105
HP:0001257HP:0007020Progressive spastic paraplegia3PPP3CA CL E G H5530442835ORPHA03519314114105
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3PPP3CA CL E G H5530442835ORPHA03519314114105
HP:0001257HP:0012407Scissor gait3PPP3CA CL E G H5530442835ORPHA03519314114105
HP:0001257HP:0007199Progressive spastic paraparesis3PPP3CA CL E G H5530617711EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1617711C4540199OMIM03519314114105
HP:0001257HP:0007020Progressive spastic paraplegia3PPP3CA CL E G H5530617711EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1617711C4540199OMIM03519314114105
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3PPP3CA CL E G H5530617711EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1617711C4540199OMIM03519314114105
HP:0001257HP:0012407Scissor gait3PPP3CA CL E G H5530617711EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1617711C4540199OMIM03519314114105
HP:0001257HP:0007199Progressive spastic paraparesis3PSAP CL E G H5660309256ORPHA07729498176801
HP:0001257HP:0007020Progressive spastic paraplegia3PSAP CL E G H5660309256ORPHA07729498176801
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3PSAP CL E G H5660309256ORPHA07729498176801
HP:0001257HP:0012407Scissor gait3PSAP CL E G H5660309256ORPHA07729498176801
HP:0001257HP:0007199Progressive spastic paraparesis3PSAP CL E G H5660309263ORPHA07729498176801
HP:0001257HP:0007020Progressive spastic paraplegia3PSAP CL E G H5660309263ORPHA07729498176801
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3PSAP CL E G H5660309263ORPHA07729498176801
HP:0001257HP:0012407Scissor gait3PSAP CL E G H5660309263ORPHA07729498176801
HP:0001257HP:0007199Progressive spastic paraparesis3RNASET2 CL E G H8635612951Leukoencephalopathy, cystic, without megalencephaly612951C2751843OMIM019921686612944
HP:0001257HP:0007020Progressive spastic paraplegia3RNASET2 CL E G H8635612951Leukoencephalopathy, cystic, without megalencephaly612951C2751843OMIM019921686612944
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3RNASET2 CL E G H8635612951Leukoencephalopathy, cystic, without megalencephaly612951C2751843OMIM019921686612944
HP:0001257HP:0012407Scissor gait3RNASET2 CL E G H8635612951Leukoencephalopathy, cystic, without megalencephaly612951C2751843OMIM019921686612944
HP:0001257HP:0007199Progressive spastic paraparesis3RTTN CL E G H25914614833Microcephaly, short stature, and polymicrogyria with or without seizures614833C3553831OMIM0120618654610436
HP:0001257HP:0007020Progressive spastic paraplegia3RTTN CL E G H25914614833Microcephaly, short stature, and polymicrogyria with or without seizures614833C3553831OMIM0120618654610436
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3RTTN CL E G H25914614833Microcephaly, short stature, and polymicrogyria with or without seizures614833C3553831OMIM0120618654610436
HP:0001257HP:0012407Scissor gait3RTTN CL E G H25914614833Microcephaly, short stature, and polymicrogyria with or without seizures614833C3553831OMIM0120618654610436
HP:0001257HP:0007199Progressive spastic paraparesis3SCN3A CL E G H6328442835ORPHA0142010590182391
HP:0001257HP:0007020Progressive spastic paraplegia3SCN3A CL E G H6328442835ORPHA0142010590182391
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3SCN3A CL E G H6328442835ORPHA0142010590182391
HP:0001257HP:0012407Scissor gait3SCN3A CL E G H6328442835ORPHA0142010590182391
HP:0001257HP:0007199Progressive spastic paraparesis3SCN8A CL E G H6334442835ORPHA0179910596600702
HP:0001257HP:0007020Progressive spastic paraplegia3SCN8A CL E G H6334442835ORPHA0179910596600702
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3SCN8A CL E G H6334442835ORPHA0179910596600702
HP:0001257HP:0012407Scissor gait3SCN8A CL E G H6334442835ORPHA0179910596600702
HP:0001257HP:0007199Progressive spastic paraparesis3SCYL1 CL E G H57410466794ORPHA012814372607982
HP:0001257HP:0007020Progressive spastic paraplegia3SCYL1 CL E G H57410466794ORPHA012814372607982
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3SCYL1 CL E G H57410466794ORPHA012814372607982
HP:0001257HP:0012407Scissor gait3SCYL1 CL E G H57410466794ORPHA012814372607982
HP:0001257HP:0007199Progressive spastic paraparesis3SCYL1 CL E G H57410616719Spinocerebellar ataxia, autosomal recessive 21616719C4225236OMIM012814372607982
HP:0001257HP:0007020Progressive spastic paraplegia3SCYL1 CL E G H57410616719Spinocerebellar ataxia, autosomal recessive 21616719C4225236OMIM012814372607982
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3SCYL1 CL E G H57410616719Spinocerebellar ataxia, autosomal recessive 21616719C4225236OMIM012814372607982
HP:0001257HP:0012407Scissor gait3SCYL1 CL E G H57410616719Spinocerebellar ataxia, autosomal recessive 21616719C4225236OMIM012814372607982
HP:0001257HP:0007199Progressive spastic paraparesis3SETBP1 CL E G H26040798ORPHA0119015573611060
HP:0001257HP:0007020Progressive spastic paraplegia3SETBP1 CL E G H26040798ORPHA0119015573611060
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3SETBP1 CL E G H26040798ORPHA0119015573611060
HP:0001257HP:0012407Scissor gait3SETBP1 CL E G H26040798ORPHA0119015573611060
HP:0001257HP:0007199Progressive spastic paraparesis3SLC13A5 CL E G H284111442835ORPHA068523089608305
HP:0001257HP:0007020Progressive spastic paraplegia3SLC13A5 CL E G H284111442835ORPHA068523089608305
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3SLC13A5 CL E G H284111442835ORPHA068523089608305
HP:0001257HP:0012407Scissor gait3SLC13A5 CL E G H284111442835ORPHA068523089608305
HP:0001257HP:0007199Progressive spastic paraparesis3SLC1A2 CL E G H6506442835ORPHA035910940600300
HP:0001257HP:0007020Progressive spastic paraplegia3SLC1A2 CL E G H6506442835ORPHA035910940600300
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3SLC1A2 CL E G H6506442835ORPHA035910940600300
HP:0001257HP:0012407Scissor gait3SLC1A2 CL E G H6506442835ORPHA035910940600300
HP:0001257HP:0007199Progressive spastic paraparesis3SLC1A2 CL E G H6506617105Epileptic encephalopathy, early infantile, 41617105C4310717OMIM035910940600300
HP:0001257HP:0007020Progressive spastic paraplegia3SLC1A2 CL E G H6506617105Epileptic encephalopathy, early infantile, 41617105C4310717OMIM035910940600300
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3SLC1A2 CL E G H6506617105Epileptic encephalopathy, early infantile, 41617105C4310717OMIM035910940600300
HP:0001257HP:0012407Scissor gait3SLC1A2 CL E G H6506617105Epileptic encephalopathy, early infantile, 41617105C4310717OMIM035910940600300
HP:0001257HP:0007199Progressive spastic paraparesis3SON CL E G H6651500150ORPHA0103111183182465
HP:0001257HP:0007020Progressive spastic paraplegia3SON CL E G H6651500150ORPHA0103111183182465
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3SON CL E G H6651500150ORPHA0103111183182465
HP:0001257HP:0012407Scissor gait3SON CL E G H6651500150ORPHA0103111183182465
HP:0001257HP:0007199Progressive spastic paraparesis3SPTBN2 CL E G H6712352403ORPHA093811276604985
HP:0001257HP:0007020Progressive spastic paraplegia3SPTBN2 CL E G H6712352403ORPHA093811276604985
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3SPTBN2 CL E G H6712352403ORPHA093811276604985
HP:0001257HP:0012407Scissor gait3SPTBN2 CL E G H6712352403ORPHA093811276604985
HP:0001257HP:0007199Progressive spastic paraparesis3SPTBN2 CL E G H6712615386Spinocerebellar ataxia, autosomal recessive 14615386C3809327OMIM093811276604985
HP:0001257HP:0007020Progressive spastic paraplegia3SPTBN2 CL E G H6712615386Spinocerebellar ataxia, autosomal recessive 14615386C3809327OMIM093811276604985
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3SPTBN2 CL E G H6712615386Spinocerebellar ataxia, autosomal recessive 14615386C3809327OMIM093811276604985
HP:0001257HP:0012407Scissor gait3SPTBN2 CL E G H6712615386Spinocerebellar ataxia, autosomal recessive 14615386C3809327OMIM093811276604985
HP:0001257HP:0007199Progressive spastic paraparesis3STUB1 CL E G H10273615768Spinocerebellar ataxia, autosomal recessive 16615768C4014261OMIM022611427607207
HP:0001257HP:0007020Progressive spastic paraplegia3STUB1 CL E G H10273615768Spinocerebellar ataxia, autosomal recessive 16615768C4014261OMIM022611427607207
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3STUB1 CL E G H10273615768Spinocerebellar ataxia, autosomal recessive 16615768C4014261OMIM022611427607207
HP:0001257HP:0012407Scissor gait3STUB1 CL E G H10273615768Spinocerebellar ataxia, autosomal recessive 16615768C4014261OMIM022611427607207
HP:0001257HP:0007199Progressive spastic paraparesis3STXBP1 CL E G H6812442835ORPHA0101711444602926
HP:0001257HP:0007020Progressive spastic paraplegia3STXBP1 CL E G H6812442835ORPHA0101711444602926
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3STXBP1 CL E G H6812442835ORPHA0101711444602926
HP:0001257HP:0012407Scissor gait3STXBP1 CL E G H6812442835ORPHA0101711444602926
HP:0001257HP:0007199Progressive spastic paraparesis3SYNGAP1 CL E G H8831442835ORPHA0133511497603384
HP:0001257HP:0007020Progressive spastic paraplegia3SYNGAP1 CL E G H8831442835ORPHA0133511497603384
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3SYNGAP1 CL E G H8831442835ORPHA0133511497603384
HP:0001257HP:0012407Scissor gait3SYNGAP1 CL E G H8831442835ORPHA0133511497603384
HP:0001257HP:0007199Progressive spastic paraparesis3SYNJ1 CL E G H8867442835ORPHA0131511503604297
HP:0001257HP:0007020Progressive spastic paraplegia3SYNJ1 CL E G H8867442835ORPHA0131511503604297
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3SYNJ1 CL E G H8867442835ORPHA0131511503604297
HP:0001257HP:0012407Scissor gait3SYNJ1 CL E G H8867442835ORPHA0131511503604297
HP:0001257HP:0007199Progressive spastic paraparesis3SZT2 CL E G H23334442835ORPHA0286229040615463
HP:0001257HP:0007020Progressive spastic paraplegia3SZT2 CL E G H23334442835ORPHA0286229040615463
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3SZT2 CL E G H23334442835ORPHA0286229040615463
HP:0001257HP:0012407Scissor gait3SZT2 CL E G H23334442835ORPHA0286229040615463
HP:0001257HP:0007199Progressive spastic paraparesis3TBC1D23 CL E G H55773617695PONTOCEREBELLAR HYPOPLASIA, TYPE 11617695C4540164OMIM09025622617687
HP:0001257HP:0007020Progressive spastic paraplegia3TBC1D23 CL E G H55773617695PONTOCEREBELLAR HYPOPLASIA, TYPE 11617695C4540164OMIM09025622617687
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3TBC1D23 CL E G H55773617695PONTOCEREBELLAR HYPOPLASIA, TYPE 11617695C4540164OMIM09025622617687
HP:0001257HP:0012407Scissor gait3TBC1D23 CL E G H55773617695PONTOCEREBELLAR HYPOPLASIA, TYPE 11617695C4540164OMIM09025622617687
HP:0001257HP:0007199Progressive spastic paraparesis3TIMM50 CL E G H926096176983-METHYLGLUTACONIC ACIDURIA, TYPE IX617698C4540171OMIM035723656607381
HP:0001257HP:0007020Progressive spastic paraplegia3TIMM50 CL E G H926096176983-METHYLGLUTACONIC ACIDURIA, TYPE IX617698C4540171OMIM035723656607381
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3TIMM50 CL E G H926096176983-METHYLGLUTACONIC ACIDURIA, TYPE IX617698C4540171OMIM035723656607381
HP:0001257HP:0012407Scissor gait3TIMM50 CL E G H926096176983-METHYLGLUTACONIC ACIDURIA, TYPE IX617698C4540171OMIM035723656607381
HP:0001257HP:0007199Progressive spastic paraparesis3TRAK1 CL E G H22906442835ORPHA020829947608112
HP:0001257HP:0007020Progressive spastic paraplegia3TRAK1 CL E G H22906442835ORPHA020829947608112
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3TRAK1 CL E G H22906442835ORPHA020829947608112
HP:0001257HP:0012407Scissor gait3TRAK1 CL E G H22906442835ORPHA020829947608112
HP:0001257HP:0007199Progressive spastic paraparesis3TSEN15 CL E G H116461617026Pontocerebellar hypoplasia, type 2f617026C4310757OMIM06516791608756
HP:0001257HP:0007020Progressive spastic paraplegia3TSEN15 CL E G H116461617026Pontocerebellar hypoplasia, type 2f617026C4310757OMIM06516791608756
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3TSEN15 CL E G H116461617026Pontocerebellar hypoplasia, type 2f617026C4310757OMIM06516791608756
HP:0001257HP:0012407Scissor gait3TSEN15 CL E G H116461617026Pontocerebellar hypoplasia, type 2f617026C4310757OMIM06516791608756
HP:0001257HP:0007199Progressive spastic paraparesis3UBA5 CL E G H79876442835ORPHA022323230610552
HP:0001257HP:0007020Progressive spastic paraplegia3UBA5 CL E G H79876442835ORPHA022323230610552
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3UBA5 CL E G H79876442835ORPHA022323230610552
HP:0001257HP:0012407Scissor gait3UBA5 CL E G H79876442835ORPHA022323230610552
HP:0001257HP:0007199Progressive spastic paraparesis3VPS13C CL E G H54832616840Parkinson disease 23, autosomal recessive early-onset616840C4225186OMIM082823594608879
HP:0001257HP:0007020Progressive spastic paraplegia3VPS13C CL E G H54832616840Parkinson disease 23, autosomal recessive early-onset616840C4225186OMIM082823594608879
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3VPS13C CL E G H54832616840Parkinson disease 23, autosomal recessive early-onset616840C4225186OMIM082823594608879
HP:0001257HP:0012407Scissor gait3VPS13C CL E G H54832616840Parkinson disease 23, autosomal recessive early-onset616840C4225186OMIM082823594608879
HP:0001257HP:0007199Progressive spastic paraparesis3WASHC4 CL E G H23325615817Mental retardation, autosomal recessive 43615817C4014386OMIM011229174615748
HP:0001257HP:0007020Progressive spastic paraplegia3WASHC4 CL E G H23325615817Mental retardation, autosomal recessive 43615817C4014386OMIM011229174615748
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3WASHC4 CL E G H23325615817Mental retardation, autosomal recessive 43615817C4014386OMIM011229174615748
HP:0001257HP:0012407Scissor gait3WASHC4 CL E G H23325615817Mental retardation, autosomal recessive 43615817C4014386OMIM011229174615748
HP:0001257HP:0007199Progressive spastic paraparesis3WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM022025928616144
HP:0001257HP:0007020Progressive spastic paraplegia3WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM022025928616144
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM022025928616144
HP:0001257HP:0012407Scissor gait3WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM022025928616144
HP:0001257HP:0007199Progressive spastic paraparesis3WWOX CL E G H51741442835ORPHA0110212799605131
HP:0001257HP:0007020Progressive spastic paraplegia3WWOX CL E G H51741442835ORPHA0110212799605131
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3WWOX CL E G H51741442835ORPHA0110212799605131
HP:0001257HP:0012407Scissor gait3WWOX CL E G H51741442835ORPHA0110212799605131
HP:0001257HP:0007199Progressive spastic paraparesis3WWOX CL E G H51741614322Spinocerebellar ataxia, autosomal recessive 12614322C3280452OMIM0110212799605131
HP:0001257HP:0007020Progressive spastic paraplegia3WWOX CL E G H51741614322Spinocerebellar ataxia, autosomal recessive 12614322C3280452OMIM0110212799605131
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3WWOX CL E G H51741614322Spinocerebellar ataxia, autosomal recessive 12614322C3280452OMIM0110212799605131
HP:0001257HP:0012407Scissor gait3WWOX CL E G H51741614322Spinocerebellar ataxia, autosomal recessive 12614322C3280452OMIM0110212799605131
HP:0001257HP:0007199Progressive spastic paraparesis3XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA032112814611153
HP:0001257HP:0007020Progressive spastic paraplegia3XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA032112814611153
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA032112814611153
HP:0001257HP:0012407Scissor gait3XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA032112814611153
HP:0001257HP:0007199Progressive spastic paraparesis3XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA078812816613208
HP:0001257HP:0007020Progressive spastic paraplegia3XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA078812816613208
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA078812816613208
HP:0001257HP:0012407Scissor gait3XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA078812816613208
HP:0001257HP:0007199Progressive spastic paraparesis3YWHAG CL E G H7532442835ORPHA018912852605356
HP:0001257HP:0007020Progressive spastic paraplegia3YWHAG CL E G H7532442835ORPHA018912852605356
HP:0001257HP:0006983Slowly progressive spastic quadriparesis3YWHAG CL E G H7532442835ORPHA018912852605356
HP:0001257HP:0012407Scissor gait3YWHAG CL E G H7532442835ORPHA018912852605356


Genes (612) :AARS AARS2 AASS ABCC8 ABCD1 ABHD12 ACER3 ACP2 ACP5 ADAM22 ADAR ADAT3 ADD3 ADSL AFG3L2 AGA AGTPBP1 AIMP1 ALDH18A1 ALDH3A2 ALG11 ALS2 AMACR AMPD2 ANG ANK3 ANKLE2 ANXA11 AP1S2 AP3B2 AP4B1 AP4E1 AP4M1 AP4S1 AP5Z1 APC ARF1 ARG1 ARL6IP1 ARNT2 ARSA ARSI ARV1 ARX ASNS ASPA ATAD1 ATAD3A ATL1 ATM ATP13A2 ATP2B3 ATP6 ATP6AP2 ATP6V0A2 ATP6V1A ATP6V1E1 ATP7A ATRX ATXN1 ATXN10 ATXN2 ATXN3 ATXN7 ATXN8 ATXN8OS AUH B4GALNT1 B4GAT1 BAZ1B BCL11B BCOR BCS1L BEAN1 BICD2 BOLA3 BSCL2 C12ORF65 C19ORF12 C19orf12 C9ORF72 C9orf72 CACNA1A CACNA1D CACNA1E CACNA1G CAMK2A CAPN1 CARS2 CASK CC2D2A CCDC88C CCNF CCT5 CDKL5 CFAP410 CHCHD10 CHMP1A CHMP2B CIT CKAP2L CLCN4 CLIC2 CLIP2 CLP1 CLPB CLTC CNKSR2 CNPY3 CNTNAP1 CNTNAP2 COA8 COASY COG2 COL4A1 COL4A2 COPB2 COX10 COX15 CPT1C CRLF1 CSF1R CTC1 CTNNA2 CTNNB1 CTSD CYB5R3 CYFIP2 CYP27A1 CYP2U1 CYP7B1 DAO DARS DARS2 DCTN1 DCX DDB2 DDHD1 DDHD2 DDX3X DENND5A DHCR24 DHDDS DLD DNAJC19 DNAJC6 DNM1 DNMT1 DSTYK DYNC1H1 EARS2 ECHS1 EDNRB EED EEF1A2 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 EIF2S3 ELN ELOVL4 ELP2 EML1 ENTPD1 EPHA4 EPRS ERBB4 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERLIN1 ERLIN2 EXOSC3 EXOSC8 EXOSC9 EZH2 FA2H FAR1 FARS2 FBXO7 FGF12 FGFR1 FIG4 FLNA FLRT1 FOXG1 FOXRED1 FRMPD4 FRRS1L FTL FUCA1 FUS FXN GABBR2 GABRB2 GAD1 GALC GAN GBA GBA2 GBE1 GCDH GFAP GFM1 GJA1 GJB1 GJC2 GLB1 GLE1 GLRA1 GLRB GLRX5 GLYCTK GM2A GNAO1 GPAA1 GPHN GPT2 GRIA4 GRIN1 GRIN2B GRIN2D GRM1 GSS GTF2I GTF2IRD1 GTPBP2 GUF1 HACE1 HCN1 HEPACAM HIKESHI HMGCL HNRNPA1 HPRT1 HSD17B10 HSD17B4 HSPD1 HTRA1 HTT IARS IBA57 IDUA IFIH1 IKBKG INPP5K IRF2BPL ISCA1 ISCA2 ITM2B JAM3 KANK1 KATNB1 KCNA1 KCNA2 KCNA4 KCNB1 KCNJ6 KCNQ2 KCNT1 KDM5C KIDINS220 KIF11 KIF1A KIF1C KIF2A KIF5A KIF5C KLC2 KMT2B KRAS KY L1CAM L2HGDH LAGE3 LAMB1 LIAS LIMK1 LINGO1 LIPT1 LIPT2 LMNB1 LYRM7 MAG MAN2B1 MARS MARS2 MATR3 MCCC1 MCCC2 MCOLN1 MECP2 MECR MED17 MED25 MFF MFN2 MFSD2A MICOS13 MLC1 MOCS1 MOCS2 MRE11 MRPS22 MRPS34 MT-TF MT-TI MT-TK MT-TL1 MT-TP MTFMT MTO1 MTPAP MYO5A NAA10 NACC1 NADK2 NAGA NALCN NARS2 NDE1 NDUFA10 NDUFA12 NDUFA13 NDUFA2 NDUFA4 NDUFA6 NDUFA9 NDUFAF2 NDUFAF4 NDUFAF5 NDUFAF6 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NECAP1 NEFH NEFL NEK1 NEXMIF NIPA1 NKX6-2 NOTCH3 NPC1 NPC2 NSD1 NSUN2 NT5C2 NTNG1 NTRK2 NUBPL NUP62 NUS1 OCLN OPA1 OPA3 OPHN1 OPTN OSGEP OSTM1 OTUD6B PAFAH1B1 PANK2 PAX3 PCDH12 PCLO PDHA1 PDHX PET100 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PFN1 PGAP1 PHACTR1 PHGDH PIGA PIGN PLA2G6 PLAA PLCB1 PLP1 PMPCA PMPCB PNP PNPLA6 PNPLA8 POLG POLR1C POLR3A POLR3B POMGNT1 PON1 PON2 PON3 PPARGC1A PPP1R15B PPP3CA PPT1 PQBP1 PRDM8 PRNP PRPH PRRT2 PRUNE1 PSAP PSAT1 PSEN1 PTS PUM1 PYCR2 RAB11B RAB18 RAB27A RAB3GAP1 RAB3GAP2 RAD50 RANBP2 RARS RARS2 REEP1 REEP2 REPS1 RETREG1 RFC2 RFT1 RLIM RNASEH2A RNASEH2B RNASEH2C RNASET2 RNU4ATAC ROGDI RPGRIP1L RPIA RPS6KA3 RTN2 RTTN RUSC2 SACS SAMHD1 SCN1B SCN2A SCN3A SCN8A SCYL1 SDHA SDHAF1 SDHB SDHD SEPSECS SERAC1 SETBP1 SETX SIGMAR1 SIL1 SIX6 SLC13A5 SLC16A2 SLC17A5 SLC18A2 SLC19A3 SLC1A2 SLC1A4 SLC25A12 SLC25A15 SLC25A22 SLC2A1 SLC2A3 SLC30A10 SLC33A1 SLC39A14 SLC52A2 SLC6A5 SLC6A8 SMPD1 SNCA SNORD118 SNX14 SOD1 SON SOX10 SOX2 SPART SPAST SPATA5 SPG11 SPG21 SPG7 SPR SPTAN1 SPTBN2 SQSTM1 STAMBP STN1 STUB1 STXBP1 SUCLA2 SUMF1 SURF1 SUZ12 SYNGAP1 SYNJ1 SZT2 TACO1 TAF1 TAF15 TAF2 TANGO2 TARDBP TBC1D20 TBC1D23 TBCD TBCE TBK1 TBL2 TBP TCTN2 TDP1 TECPR2 TELO2 TFG TIMM50 TIMM8A TMEM231 TMEM67 TMTC3 TOE1 TP53RK TPI1 TPK1 TPRKB TRAK1 TRAPPC12 TREM2 TREX1 TRIT1 TRMT5 TRNF TRNI TRNK TRNL1 TRNP TSEN15 TSEN2 TSEN54 TTC19 TTR TUBA1A TUBB3 TUBB4A TUBG1 TUFM TXN2 TYROBP UBA5 UBQLN2 UBTF UCHL1 UFC1 UFM1 UNC13A UNC80 USP8 VAMP1 VAPB VCP VPS11 VPS13C VPS13D VPS37A VPS53 VWA3B WARS2 WASHC4 WASHC5 WDR26 WDR45 WDR45B WDR48 WDR62 WDR73 WWOX XPA XPC YWHAG ZC4H2 ZFR ZFYVE26 ZFYVE27 ZNF335 ZNF592

Diseases (690) :442835 616339 615889 240800 612674 617762 617933 615286 101109 610246 208400 618276 616586 270200 300605 614307 615809 803 611895 615493 304340 614066 614067 618185 615926 309263 309256 452 2508 3175 308350 300215 314911 3197 617183 100 606693 300911 357074 565 301040 164400 183090 276244 276238 276241 109150 164500 608768 615287 904 618092 256000 124000 217012 615290 614299 363400 615924 614298 615043 618087 618095 163937 300749 216360 3095 614961 617090 3255 300886 411493 615803 616271 617854 618186 610042 175780 614483 617800 221820 612199 610127 618008 909 213700 615281 611105 300067 910 457260 300958 617281 35107 602398 613861 2394 615528 314404 604121 616277 3447 603896 300148 133190 600348 401810 617951 220295 278730 278780 278800 615681 209951 614678 618065 277590 616154 171695 2396 613454 300983 616981 606159 95 617829 643 77260 230900 206583 25 203450 609060 164200 617493 617810 616281 614254 617820 616139 613970 617691 617988 617065 604004 613925 616881 246450 510 300322 600142 399 617435 617093 464 308300 559 618088 617613 616370 176500 117300 613730 616212 614959 85279 2526 614255 397946 611302 617284 2182 1497 304100 307000 301006 618103 99027 169500 248500 611390 6 778 312750 617282 613668 616449 617086 609260 617664 618248 614702 33445 617393 616034 79279 609241 616239 618253 618238 252010 618229 617882 300912 617560 136 257220 607625 611091 618242 271930 617082 1229 251290 125250 258501 300486 617729 216873 607236 234200 608027 772 215100 614808 615802 300868 614080 199351 610217 612953 613722 213200 617954 215470 251950 616494 607694 614381 253280 616817 617711 256730 309500 137440 617931 616420 617807 2510 607624 613078 616140 617916 613115 612015 300978 610333 610329 612951 2636 1946 226750 608611 614833 617773 270550 612952 617350 466794 616719 252011 614739 798 614373 248800 615905 604369 617105 612949 609304 71277 606777 608885 617013 300352 257200 614561 616354 105400 500150 163746 616577 602099 101001 612716 352403 615386 617341 615768 612073 272200 615599 612069 617695 98759 616654 616954 617698 304700 2752 617255 617730 615512 614458 617731 618201 617669 2770 225750 617873 616539 545000 617026 225753 105210 614039 612438 616811 221770 617132 617672 618076 617899 616801 466934 616683 616840 607317 615817 83472 251300 616211 614322 278700 314580 615095 268700 200950 607944 51 225154 617008 103050 313772 447760 447757 447753 601162 816 613661 247604 293168 205100 607225 606353 616681 85335 280763 613744 612936 306511 613647 261584 250100 401815 309510 300004 615574 271900 496790 100984 182600 617225 314978 618012 98761 98760 67046 250950 101006 609195 617237 309800 100998 270685 320370 615474 618285 458803 616795 488594 616907 616672 256840 300114 617929 436271 615643 435934 617395 444099 272430 618174 615075 250800 320411 100986 270800 101008 609340 320380 66634 101003 614563 614924 614457 617270 401785 611225 616081 171629 612319 260300 300048 157846 230000 349 603513 245200 608013 320391 352641 614409 231670 1175 320401 608804 613206 230600 401866 616859 220120 272750 615501 617864 266130 616756 300438 233400 100994 612233 605280 615330 615846 617404 612900 972 160120 618284 435628 614098 613720 610357 615411 604187 615282 79314 236792 614462 616299 617668 615838 616680 314603 210200 210210 252650 300260 300055 616486 252150 252160 604391 611719 615419 605013 618249 618237 600363 527497 320396 613162 617830 210000 616896 259720 505237 617452 607432 216866 251280 245349 95433 401820 618298 79351 2671 601815 256600 99015 312920 613179 726 447896 93947 324290 616640 282166 98811 617481 249900 607822 13 614222 600118 401830 614225 88619 438114 611523 101011 610250 401849 615625 192 100993 604805 98 613721 617938 3208 613811 269150 206900 300523 352649 616657 171863 612539 609136 101000 275900 100985 182601 604360 35689 99013 607259 613477 614261 412057 612164 617389 300966 616878 615663 617193 496756 617207 94124 615031 612389 277470 611603 300570 615412 610678 617133 401795 251282 329475 615851 616948 617710 100989 603563 617616 401800 604317 401840 100996 270700 610244 300100 614487 260600 615686 90 207800 615685 309271 513436 363654 847 300166 320375 615035 289560 369929 423275 616053 397725 616282 615030 615033 270750 277580 615683 617046 256850 231000 263570 2710 309246 477673 616451 93474 93473 617296 609541 2466 303350 615191 459056 67047 254343 613672 431361 100988 896 148820 614877 617370 521426 312080 139480 245800 610181 357043 238970 53583 601042 309854 613280 2822 248900 431329 615658 614969 615157 615491 108600 614898 329284 300894 617977 401805 401780 320360 139578 255241 320406 464282 468661 300534 521390 101010 496689 401835 612020
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.