Human Phenotype Ontology 
Grandparent Node:
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Abnormal central motor function (HP:0011442)help
Parent Node:
expand
Abnormal muscle tone (HP:0003808)help
Parent Node:
expand
Upper motor neuron dysfunction (HP:0002493)help
..Starting node
..expand
Hypertonia (HP:0001276)help
Term ID: 1276
Name: Hypertonia
Synonym: Hypertonicity; Increased muscle tone; Muscle hypertonia; Spasticity and rigidity of muscles
Definition: A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.
Comments:
Reference: HP:0001276
Genes and Diseases:
 
       Child Nodes:
........expandSpasticity (HP:0001257) help
................... HP:0001264 Spastic diplegia
................... HP:0001285 Spastic tetraparesis
................... HP:0002061 Lower limb spasticity
................... HP:0002064 Spastic gait
................... HP:0002179 Opisthotonus
................... HP:0002191 Progressive spasticity
................... HP:0002464 Spastic dysarthria
................... HP:0002491 Spasticity of facial muscles
................... HP:0002501 Spasticity of pharyngeal muscles
................... HP:0002510 Spastic tetraplegia
................... HP:0006986 Upper limb spasticity
................... HP:0011099 Spastic hemiparesis
................... HP:0031866 Clasp-knife sign
........expandLimb hypertonia (HP:0002509) help
................... HP:0006895 Lower limb hypertonia
................... HP:0200049 Upper limb hypertonia
........expandNeck hypertonia (HP:0031867) help

 Sister Nodes: 
..expandAbnormal pyramidal sign (HP:0007256) help
..expandDysfunction of lateral corticospinal tracts (HP:0007299) help
..expandWeakness due to upper motor neuron dysfunction (HP:0010549) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001276HP:0001276Hypertonia0ABCA7 CL E G H103471020ORPHA126937605414
HP:0001276HP:0001276Hypertonia0ACD CL E G H650573322ORPHA1104925070609377
HP:0001276HP:0001276Hypertonia0ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1665119609751
HP:0001276HP:0001276Hypertonia0AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1480315604581
HP:0001276HP:0001276Hypertonia0ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM121923056608750
HP:0001276HP:0001276Hypertonia0APP CL E G H3511020ORPHA1506620104760
HP:0001276HP:0001276Hypertonia0ARHGEF9 CL E G H23229300607Early infantile epileptic encephalopathy 8300607C1845102OMIM150914561300429
HP:0001276HP:0001276Hypertonia0ARV1 CL E G H64801617020Epileptic encephalopathy, early infantile, 38617020C4310762OMIM18929561611647
HP:0001276HP:0001276Hypertonia0ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001276HP:0001276Hypertonia0ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM118325903614452
HP:0001276HP:0001276Hypertonia0ATP7A CL E G H538309400Menkes kinky-hair syndrome309400C0022716OMIM11751869300011
HP:0001276HP:0001276Hypertonia0B3GALNT2 CL E G H148789588ORPHA158728596610194
HP:0001276HP:0001276Hypertonia0BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1596986608348
HP:0001276HP:0001276Hypertonia0BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1647987248611
HP:0001276HP:0001276Hypertonia0BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM111821097164757
HP:0001276HP:0001276Hypertonia0BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM1114721701614506
HP:0001276HP:0001276Hypertonia0BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM1114721701614506
HP:0001276HP:0001276Hypertonia0CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM132481388601011
HP:0001276HP:0001276Hypertonia0CLCF1 CL E G H235291545Corsello Opitz syndromeORPHA13817412607672
HP:0001276HP:0001276Hypertonia0COG4 CL E G H25839613489Congenital disorder of glycosylation type 2J613489C3150736OMIM133918620606976
HP:0001276HP:0001276Hypertonia0COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001276HP:0001276Hypertonia0CP CL E G H135648818ORPHA18312295117700
HP:0001276HP:0001276Hypertonia0CRLF1 CL E G H92441545Corsello Opitz syndromeORPHA11482364604237
HP:0001276HP:0001276Hypertonia0CYB5R3 CL E G H1727250800Deficiency of cytochrome-b5 reductase250800C0268193OMIM12152873613213
HP:0001276HP:0001276Hypertonia0DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM16832698248610
HP:0001276HP:0001276Hypertonia0DCX CL E G H16412148ORPHA14232714300121
HP:0001276HP:0001276Hypertonia0DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM17792860602858
HP:0001276HP:0001276Hypertonia0DKC1 CL E G H17363322ORPHA15342890300126
HP:0001276HP:0001276Hypertonia0DMPK CL E G H1760273ORPHA12732933605377
HP:0001276HP:0001276Hypertonia0DNAJC12 CL E G H56521617384Hyperphenylalaninemia, mild, non-bh4-deficient617384C4479270OMIM111528908606060
HP:0001276HP:0001276Hypertonia0DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM13122995191350
HP:0001276HP:0001276Hypertonia0DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM14463012612779
HP:0001276HP:0001276Hypertonia0EBP CL E G H10682300960MEND syndrome300960C4085243OMIM13173133300205
HP:0001276HP:0001276Hypertonia0EIF2AK3 CL E G H9451226980Wolcott-Rallison dysplasia226980C0432217OMIM15203255604032
HP:0001276HP:0001276Hypertonia0EIF2S3 CL E G H196885282ORPHA12083267300161
HP:0001276HP:0001276Hypertonia0EPCAM CL E G H4072144ORPHA174411529185535
HP:0001276HP:0001276Hypertonia0ERCC1 CL E G H20671466ORPHA11613433126380
HP:0001276HP:0001276Hypertonia0ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11613433126380
HP:0001276HP:0001276Hypertonia0ERCC2 CL E G H20681466ORPHA115723434126340
HP:0001276HP:0001276Hypertonia0ERCC5 CL E G H20731466ORPHA14913437133530
HP:0001276HP:0001276Hypertonia0ERCC6 CL E G H20741466ORPHA116453438609413
HP:0001276HP:0001276Hypertonia0EYA1 CL E G H21382792Hyperbilirubinemia type 1ORPHA15133519601653
HP:0001276HP:0001276Hypertonia0EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0001276HP:0001276Hypertonia0FAN1 CL E G H22909144ORPHA148229170613534
HP:0001276HP:0001276Hypertonia0FKRP CL E G H79147588ORPHA195017997606596
HP:0001276HP:0001276Hypertonia0FKTN CL E G H2218588ORPHA19143622607440
HP:0001276HP:0001276Hypertonia0FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM124324678610966
HP:0001276HP:0001276Hypertonia0GALC CL E G H2581245200Galactosylceramide beta-galactosidase deficiency245200C0023521OMIM111854115606890
HP:0001276HP:0001276Hypertonia0GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM15884136601240
HP:0001276HP:0001276Hypertonia0GBA CL E G H26292072ORPHA14177606463
HP:0001276HP:0001276Hypertonia0GBA CL E G H262985212ORPHA14177606463
HP:0001276HP:0001276Hypertonia0GLRA1 CL E G H2741149400Hyperekplexia hereditary149400C1835614OMIM14474326138491
HP:0001276HP:0001276Hypertonia0GLRB CL E G H2743614619Hyperekplexia 2614619C3553291OMIM13794329138492
HP:0001276HP:0001276Hypertonia0GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001276HP:0001276Hypertonia0GMPPB CL E G H29925588ORPHA136422932615320
HP:0001276HP:0001276Hypertonia0GMPPB CL E G H29925615351Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14615351C3809221OMIM136422932615320
HP:0001276HP:0001276Hypertonia0GPHN CL E G H10243149400Hyperekplexia hereditary149400C1835614OMIM1147315465603930
HP:0001276HP:0001276Hypertonia0GRIN2D CL E G H2906617162Epileptic encephalopathy, early infantile, 46617162C4310687OMIM18234588602717
HP:0001276HP:0001276Hypertonia0HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA138113315300269
HP:0001276HP:0001276Hypertonia0HEXA CL E G H3073272800Tay-Sachs disease272800C0039373OMIM110024878606869
HP:0001276HP:0001276Hypertonia0HIST1H1E CL E G H3008617537RAHMAN SYNDROME617537C4479637OMIM14718142220
HP:0001276HP:0001276Hypertonia0HLCS CL E G H3141253270Holocarboxylase synthetase deficiency253270C0268581OMIM18854976609018
HP:0001276HP:0001276Hypertonia0HNRNPH2 CL E G H3188300986Mental retardation, X-linked, syndromic, Bain type300986C4310814OMIM11965042300610
HP:0001276HP:0001276Hypertonia0HSPG2 CL E G H3339800ORPHA124975273142461
HP:0001276HP:0001276Hypertonia0HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM124414348606441
HP:0001276HP:0001276Hypertonia0ITM2B CL E G H9445176500Dementia familial British176500C1867773OMIM11776174603904
HP:0001276HP:0001276Hypertonia0KCNQ2 CL E G H3785306ORPHA119626296602235
HP:0001276HP:0001276Hypertonia0KCNQ2 CL E G H37851949Benign familial neonatal seizuresCN200689ORPHA119626296602235
HP:0001276HP:0001276Hypertonia0KCNQ3 CL E G H3786306ORPHA112276297602232
HP:0001276HP:0001276Hypertonia0KCNQ3 CL E G H37861949Benign familial neonatal seizuresCN200689ORPHA112276297602232
HP:0001276HP:0001276Hypertonia0KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA120737132159555
HP:0001276HP:0001276Hypertonia0KRAS CL E G H3845144ORPHA14806407190070
HP:0001276HP:0001276Hypertonia0KYNU CL E G H894279155ORPHA1816469605197
HP:0001276HP:0001276Hypertonia0KYNU CL E G H8942236800Hydroxykynureninuria236800C0268474OMIM1816469605197
HP:0001276HP:0001276Hypertonia0LARGE1 CL E G H9215588ORPHA17866511603590
HP:0001276HP:0001276Hypertonia0MBOAT7 CL E G H79143617188Mental retardation, autosomal recessive 57617188C4310673OMIM111315505606048
HP:0001276HP:0001276Hypertonia0MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM1122216877608507
HP:0001276HP:0001276Hypertonia0MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11487045602616
HP:0001276HP:0001276Hypertonia0MIPEP CL E G H4285617228Combined oxidative phosphorylation deficiency 31617228C4310661OMIM12647104602241
HP:0001276HP:0001276Hypertonia0MLH1 CL E G H4292144ORPHA151227127120436
HP:0001276HP:0001276Hypertonia0MLH3 CL E G H27030144ORPHA122107128604395
HP:0001276HP:0001276Hypertonia0MSH2 CL E G H4436144ORPHA168567325609309
HP:0001276HP:0001276Hypertonia0MSH6 CL E G H2956144ORPHA184387329600678
HP:0001276HP:0001276Hypertonia0MYO5A CL E G H464479476ORPHA13377602160777
HP:0001276HP:0001276Hypertonia0NAA10 CL E G H8260300855N-terminal acetyltransferase deficiency300855C3275447OMIM140118704300013
HP:0001276HP:0001276Hypertonia0NECAP1 CL E G H25977615833Early infantile epileptic encephalopathy 21615833C4014430OMIM122124539611623
HP:0001276HP:0001276Hypertonia0NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA1154228862608667
HP:0001276HP:0001276Hypertonia0NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1154228862608667
HP:0001276HP:0001276Hypertonia0OGDH CL E G H496731Serpiginous choroiditisORPHA11718124613022
HP:0001276HP:0001276Hypertonia0PAH CL E G H505379254ORPHA114468582612349
HP:0001276HP:0001276Hypertonia0PARN CL E G H50733322ORPHA16278609604212
HP:0001276HP:0001276Hypertonia0PAX1 CL E G H50752792Hyperbilirubinemia type 1ORPHA13588615167411
HP:0001276HP:0001276Hypertonia0PCBD1 CL E G H5092264070Hyperphenylalaninemia, BH4-deficient, D264070C1849700OMIM1918646126090
HP:0001276HP:0001276Hypertonia0PIK3CA CL E G H5290144ORPHA111598975171834
HP:0001276HP:0001276Hypertonia0PITX3 CL E G H5309610623Cataract 11610623C1864567OMIM1549006602669
HP:0001276HP:0001276Hypertonia0PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001276HP:0001276Hypertonia0PLAA CL E G H9373617527NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES617527C4479631OMIM15059043603873
HP:0001276HP:0001276Hypertonia0PLK4 CL E G H107332518ORPHA156811397605031
HP:0001276HP:0001276Hypertonia0PLPBP CL E G H11212617290Epilepsy, early-onset, vitamin b6-dependent617290C4310632OMIM12429457604436
HP:0001276HP:0001276Hypertonia0PMS1 CL E G H5378144ORPHA11259121600258
HP:0001276HP:0001276Hypertonia0PMS2 CL E G H5395144ORPHA147199122600259
HP:0001276HP:0001276Hypertonia0PNPO CL E G H5516379096ORPHA131730260603287
HP:0001276HP:0001276Hypertonia0PNPO CL E G H55163610090Pyridoxal 5'-phosphate-dependent epilepsy610090C1864723OMIM131730260603287
HP:0001276HP:0001276Hypertonia0POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM123249179174763
HP:0001276HP:0001276Hypertonia0POMGNT1 CL E G H55624588ORPHA1117419139606822
HP:0001276HP:0001276Hypertonia0POMT1 CL E G H10585588ORPHA19069202607423
HP:0001276HP:0001276Hypertonia0POMT2 CL E G H29954588ORPHA193619743607439
HP:0001276HP:0001276Hypertonia0PRF1 CL E G H5551603553Hemophagocytic lymphohistiocytosis, familial, 2603553C1863727OMIM15059360170280
HP:0001276HP:0001276Hypertonia0PRRT2 CL E G H112476306ORPHA179930500614386
HP:0001276HP:0001276Hypertonia0PSAP CL E G H5660611722Krabbe disease atypical due to Saposin A deficiency611722C2673266OMIM17729498176801
HP:0001276HP:0001276Hypertonia0PSAT1 CL E G H29968610992Phosphoserine aminotransferase deficiency610992C1970253OMIM149819129610936
HP:0001276HP:0001276Hypertonia0PSEN1 CL E G H56631020ORPHA15019508104311
HP:0001276HP:0001276Hypertonia0PSEN2 CL E G H56641020ORPHA12799509600759
HP:0001276HP:0001276Hypertonia0PSPH CL E G H5723614023Deficiency of phosphoserine phosphatase614023C1291463OMIM11899577172480
HP:0001276HP:0001276Hypertonia0PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12639689612719
HP:0001276HP:0001276Hypertonia0QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001276HP:0001276Hypertonia0RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA13529811606462
HP:0001276HP:0001276Hypertonia0RTEL1 CL E G H517503322ORPHA1259715888608833
HP:0001276HP:0001276Hypertonia0SCN2A CL E G H6326306ORPHA1228010588182390
HP:0001276HP:0001276Hypertonia0SCN4A CL E G H632999734ORPHA1176510591603967
HP:0001276HP:0001276Hypertonia0SCN4A CL E G H632999735ORPHA1176510591603967
HP:0001276HP:0001276Hypertonia0SCN4A CL E G H632999736ORPHA1176510591603967
HP:0001276HP:0001276Hypertonia0SCN8A CL E G H6334306ORPHA1179910596600702
HP:0001276HP:0001276Hypertonia0SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA190925566615743
HP:0001276HP:0001276Hypertonia0SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0001276HP:0001276Hypertonia0SLC6A19 CL E G H340024234500Neutral 1 amino acid transport defect234500C0018609OMIM152327960608893
HP:0001276HP:0001276Hypertonia0SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM158311049126455
HP:0001276HP:0001276Hypertonia0SLC6A5 CL E G H9152614618Hyperekplexia 3614618C3553288OMIM171811051604159
HP:0001276HP:0001276Hypertonia0SLC6A8 CL E G H653552503ORPHA1106211055300036
HP:0001276HP:0001276Hypertonia0SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM126911056601019
HP:0001276HP:0001276Hypertonia0SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA193911111300040
HP:0001276HP:0001276Hypertonia0SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA14722468606062
HP:0001276HP:0001276Hypertonia0SORL1 CL E G H66531020ORPHA153711185602005
HP:0001276HP:0001276Hypertonia0SOX10 CL E G H6663611584Waardenburg syndrome type 2E611584C2700405OMIM137811190602229
HP:0001276HP:0001276Hypertonia0SUOX CL E G H6821272300Sulfite oxidase deficiency272300C0268624OMIM135311460606887
HP:0001276HP:0001276Hypertonia0TERT CL E G H70153322ORPHA1281011730187270
HP:0001276HP:0001276Hypertonia0TGFBR2 CL E G H7048144ORPHA194811773190182
HP:0001276HP:0001276Hypertonia0TINF2 CL E G H262773322ORPHA141111824604319
HP:0001276HP:0001276Hypertonia0TINF2 CL E G H26277268130Revesz syndrome268130C1327916OMIM141111824604319
HP:0001276HP:0001276Hypertonia0TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0001276HP:0001276Hypertonia0TOMM40 CL E G H104521020ORPHA12918001608061
HP:0001276HP:0001276Hypertonia0TOR1A CL E G H1861128100Dystonia 1128100C1851945OMIM12203098605204
HP:0001276HP:0001276Hypertonia0TOR1A CL E G H1861256Schrander-Stumpel Theunissen Hulsmans syndromeORPHA12203098605204
HP:0001276HP:0001276Hypertonia0TRAF7 CL E G H84231618164CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY618164OMIM115520456606692
HP:0001276HP:0001276Hypertonia0TREM2 CL E G H542091020ORPHA115417761605086
HP:0001276HP:0001276Hypertonia0TUBGCP4 CL E G H272292518ORPHA147516691609610
HP:0001276HP:0001276Hypertonia0TUBGCP6 CL E G H853782518ORPHA1199818127610053
HP:0001276HP:0001276Hypertonia0VAC14 CL E G H55697617054Striatonigral degeneration, childhood-onset617054C4310743OMIM136725507604632
HP:0001276HP:0001276Hypertonia0VPS37A CL E G H137492614898Spastic paraplegia 53, autosomal recessive614898C3539494OMIM125924928609927
HP:0001276HP:0001276Hypertonia0ZSWIM6 CL E G H57688617865NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES617865CN800196OMIM165929316615951
HP:0001276HP:0002509Limb hypertonia1ABCA7 CL E G H103471020ORPHA126937605414
HP:0001276HP:0031867Neck hypertonia1ABCA7 CL E G H103471020ORPHA126937605414
HP:0001276HP:0002063Rigidity1ABCA7 CL E G H103471020ORPHA126937605414
HP:0001276HP:0001257Spasticity1ABCA7 CL E G H103471020ORPHA126937605414
HP:0001276HP:0002509Limb hypertonia1ACD CL E G H650573322ORPHA1104925070609377
HP:0001276HP:0031867Neck hypertonia1ACD CL E G H650573322ORPHA1104925070609377
HP:0001276HP:0002063Rigidity1ACD CL E G H650573322ORPHA1104925070609377
HP:0001276HP:0001257Spasticity1ACD CL E G H650573322ORPHA1104925070609377
HP:0001276HP:0002509Limb hypertonia1ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1665119609751
HP:0001276HP:0031867Neck hypertonia1ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1665119609751
HP:0001276HP:0002063Rigidity1ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1665119609751
HP:0001276HP:0001257Spasticity1ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1665119609751
HP:0001276HP:0002509Limb hypertonia1AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1480315604581
HP:0001276HP:0031867Neck hypertonia1AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1480315604581
HP:0001276HP:0002063Rigidity1AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1480315604581
HP:0001276HP:0001257Spasticity1AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1480315604581
HP:0001276HP:0002509Limb hypertonia1ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM121923056608750
HP:0001276HP:0031867Neck hypertonia1ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM121923056608750
HP:0001276HP:0002063Rigidity1ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM121923056608750
HP:0001276HP:0001257Spasticity1ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM121923056608750
HP:0001276HP:0002509Limb hypertonia1APP CL E G H3511020ORPHA1506620104760
HP:0001276HP:0031867Neck hypertonia1APP CL E G H3511020ORPHA1506620104760
HP:0001276HP:0002063Rigidity1APP CL E G H3511020ORPHA1506620104760
HP:0001276HP:0001257Spasticity1APP CL E G H3511020ORPHA1506620104760
HP:0001276HP:0002509Limb hypertonia1ARHGEF9 CL E G H23229300607Early infantile epileptic encephalopathy 8300607C1845102OMIM150914561300429
HP:0001276HP:0031867Neck hypertonia1ARHGEF9 CL E G H23229300607Early infantile epileptic encephalopathy 8300607C1845102OMIM150914561300429
HP:0001276HP:0002063Rigidity1ARHGEF9 CL E G H23229300607Early infantile epileptic encephalopathy 8300607C1845102OMIM150914561300429
HP:0001276HP:0001257Spasticity1ARHGEF9 CL E G H23229300607Early infantile epileptic encephalopathy 8300607C1845102OMIM150914561300429
HP:0001276HP:0002509Limb hypertonia1ARV1 CL E G H64801617020Epileptic encephalopathy, early infantile, 38617020C4310762OMIM18929561611647
HP:0001276HP:0031867Neck hypertonia1ARV1 CL E G H64801617020Epileptic encephalopathy, early infantile, 38617020C4310762OMIM18929561611647
HP:0001276HP:0002063Rigidity1ARV1 CL E G H64801617020Epileptic encephalopathy, early infantile, 38617020C4310762OMIM18929561611647
HP:0001276HP:0001257Spasticity1ARV1 CL E G H64801617020Epileptic encephalopathy, early infantile, 38617020C4310762OMIM18929561611647
HP:0001276HP:0002509Limb hypertonia1ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001276HP:0031867Neck hypertonia1ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001276HP:0002063Rigidity1ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001276HP:0001257Spasticity1ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001276HP:0002509Limb hypertonia1ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM118325903614452
HP:0001276HP:0031867Neck hypertonia1ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM118325903614452
HP:0001276HP:0002063Rigidity1ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM118325903614452
HP:0001276HP:0001257Spasticity1ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM118325903614452
HP:0001276HP:0002509Limb hypertonia1ATP7A CL E G H538309400Menkes kinky-hair syndrome309400C0022716OMIM11751869300011
HP:0001276HP:0031867Neck hypertonia1ATP7A CL E G H538309400Menkes kinky-hair syndrome309400C0022716OMIM11751869300011
HP:0001276HP:0002063Rigidity1ATP7A CL E G H538309400Menkes kinky-hair syndrome309400C0022716OMIM11751869300011
HP:0001276HP:0001257Spasticity1ATP7A CL E G H538309400Menkes kinky-hair syndrome309400C0022716OMIM11751869300011
HP:0001276HP:0002509Limb hypertonia1B3GALNT2 CL E G H148789588ORPHA158728596610194
HP:0001276HP:0031867Neck hypertonia1B3GALNT2 CL E G H148789588ORPHA158728596610194
HP:0001276HP:0002063Rigidity1B3GALNT2 CL E G H148789588ORPHA158728596610194
HP:0001276HP:0001257Spasticity1B3GALNT2 CL E G H148789588ORPHA158728596610194
HP:0001276HP:0002509Limb hypertonia1BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1596986608348
HP:0001276HP:0031867Neck hypertonia1BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1596986608348
HP:0001276HP:0002063Rigidity1BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1596986608348
HP:0001276HP:0001257Spasticity1BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1596986608348
HP:0001276HP:0002509Limb hypertonia1BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1647987248611
HP:0001276HP:0031867Neck hypertonia1BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1647987248611
HP:0001276HP:0002063Rigidity1BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1647987248611
HP:0001276HP:0001257Spasticity1BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1647987248611
HP:0001276HP:0002509Limb hypertonia1BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM111821097164757
HP:0001276HP:0031867Neck hypertonia1BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM111821097164757
HP:0001276HP:0002063Rigidity1BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM111821097164757
HP:0001276HP:0001257Spasticity1BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM111821097164757
HP:0001276HP:0002509Limb hypertonia1BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM1114721701614506
HP:0001276HP:0031867Neck hypertonia1BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM1114721701614506
HP:0001276HP:0002063Rigidity1BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM1114721701614506
HP:0001276HP:0001257Spasticity1BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM1114721701614506
HP:0001276HP:0002509Limb hypertonia1BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM1114721701614506
HP:0001276HP:0031867Neck hypertonia1BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM1114721701614506
HP:0001276HP:0002063Rigidity1BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM1114721701614506
HP:0001276HP:0001257Spasticity1BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM1114721701614506
HP:0001276HP:0002509Limb hypertonia1CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM132481388601011
HP:0001276HP:0031867Neck hypertonia1CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM132481388601011
HP:0001276HP:0002063Rigidity1CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM132481388601011
HP:0001276HP:0001257Spasticity1CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM132481388601011
HP:0001276HP:0002509Limb hypertonia1CLCF1 CL E G H235291545Corsello Opitz syndromeORPHA13817412607672
HP:0001276HP:0031867Neck hypertonia1CLCF1 CL E G H235291545Corsello Opitz syndromeORPHA13817412607672
HP:0001276HP:0002063Rigidity1CLCF1 CL E G H235291545Corsello Opitz syndromeORPHA13817412607672
HP:0001276HP:0001257Spasticity1CLCF1 CL E G H235291545Corsello Opitz syndromeORPHA13817412607672
HP:0001276HP:0002509Limb hypertonia1COG4 CL E G H25839613489Congenital disorder of glycosylation type 2J613489C3150736OMIM133918620606976
HP:0001276HP:0031867Neck hypertonia1COG4 CL E G H25839613489Congenital disorder of glycosylation type 2J613489C3150736OMIM133918620606976
HP:0001276HP:0002063Rigidity1COG4 CL E G H25839613489Congenital disorder of glycosylation type 2J613489C3150736OMIM133918620606976
HP:0001276HP:0001257Spasticity1COG4 CL E G H25839613489Congenital disorder of glycosylation type 2J613489C3150736OMIM133918620606976
HP:0001276HP:0002509Limb hypertonia1COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001276HP:0031867Neck hypertonia1COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001276HP:0002063Rigidity1COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001276HP:0001257Spasticity1COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001276HP:0002509Limb hypertonia1CP CL E G H135648818ORPHA18312295117700
HP:0001276HP:0031867Neck hypertonia1CP CL E G H135648818ORPHA18312295117700
HP:0001276HP:0002063Rigidity1CP CL E G H135648818ORPHA18312295117700
HP:0001276HP:0001257Spasticity1CP CL E G H135648818ORPHA18312295117700
HP:0001276HP:0002509Limb hypertonia1CRLF1 CL E G H92441545Corsello Opitz syndromeORPHA11482364604237
HP:0001276HP:0031867Neck hypertonia1CRLF1 CL E G H92441545Corsello Opitz syndromeORPHA11482364604237
HP:0001276HP:0002063Rigidity1CRLF1 CL E G H92441545Corsello Opitz syndromeORPHA11482364604237
HP:0001276HP:0001257Spasticity1CRLF1 CL E G H92441545Corsello Opitz syndromeORPHA11482364604237
HP:0001276HP:0002509Limb hypertonia1CYB5R3 CL E G H1727250800Deficiency of cytochrome-b5 reductase250800C0268193OMIM12152873613213
HP:0001276HP:0031867Neck hypertonia1CYB5R3 CL E G H1727250800Deficiency of cytochrome-b5 reductase250800C0268193OMIM12152873613213
HP:0001276HP:0002063Rigidity1CYB5R3 CL E G H1727250800Deficiency of cytochrome-b5 reductase250800C0268193OMIM12152873613213
HP:0001276HP:0001257Spasticity1CYB5R3 CL E G H1727250800Deficiency of cytochrome-b5 reductase250800C0268193OMIM12152873613213
HP:0001276HP:0002509Limb hypertonia1DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM16832698248610
HP:0001276HP:0031867Neck hypertonia1DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM16832698248610
HP:0001276HP:0002063Rigidity1DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM16832698248610
HP:0001276HP:0001257Spasticity1DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM16832698248610
HP:0001276HP:0002509Limb hypertonia1DCX CL E G H16412148ORPHA14232714300121
HP:0001276HP:0031867Neck hypertonia1DCX CL E G H16412148ORPHA14232714300121
HP:0001276HP:0002063Rigidity1DCX CL E G H16412148ORPHA14232714300121
HP:0001276HP:0001257Spasticity1DCX CL E G H16412148ORPHA14232714300121
HP:0001276HP:0002509Limb hypertonia1DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM17792860602858
HP:0001276HP:0031867Neck hypertonia1DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM17792860602858
HP:0001276HP:0002063Rigidity1DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM17792860602858
HP:0001276HP:0001257Spasticity1DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM17792860602858
HP:0001276HP:0002509Limb hypertonia1DKC1 CL E G H17363322ORPHA15342890300126
HP:0001276HP:0031867Neck hypertonia1DKC1 CL E G H17363322ORPHA15342890300126
HP:0001276HP:0002063Rigidity1DKC1 CL E G H17363322ORPHA15342890300126
HP:0001276HP:0001257Spasticity1DKC1 CL E G H17363322ORPHA15342890300126
HP:0001276HP:0002509Limb hypertonia1DMPK CL E G H1760273ORPHA12732933605377
HP:0001276HP:0031867Neck hypertonia1DMPK CL E G H1760273ORPHA12732933605377
HP:0001276HP:0002063Rigidity1DMPK CL E G H1760273ORPHA12732933605377
HP:0001276HP:0001257Spasticity1DMPK CL E G H1760273ORPHA12732933605377
HP:0001276HP:0002509Limb hypertonia1DNAJC12 CL E G H56521617384Hyperphenylalaninemia, mild, non-bh4-deficient617384C4479270OMIM111528908606060
HP:0001276HP:0031867Neck hypertonia1DNAJC12 CL E G H56521617384Hyperphenylalaninemia, mild, non-bh4-deficient617384C4479270OMIM111528908606060
HP:0001276HP:0002063Rigidity1DNAJC12 CL E G H56521617384Hyperphenylalaninemia, mild, non-bh4-deficient617384C4479270OMIM111528908606060
HP:0001276HP:0001257Spasticity1DNAJC12 CL E G H56521617384Hyperphenylalaninemia, mild, non-bh4-deficient617384C4479270OMIM111528908606060
HP:0001276HP:0002509Limb hypertonia1DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM13122995191350
HP:0001276HP:0031867Neck hypertonia1DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM13122995191350
HP:0001276HP:0002063Rigidity1DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM13122995191350
HP:0001276HP:0001257Spasticity1DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM13122995191350
HP:0001276HP:0002509Limb hypertonia1DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM14463012612779
HP:0001276HP:0031867Neck hypertonia1DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM14463012612779
HP:0001276HP:0002063Rigidity1DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM14463012612779
HP:0001276HP:0001257Spasticity1DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM14463012612779
HP:0001276HP:0002509Limb hypertonia1EBP CL E G H10682300960MEND syndrome300960C4085243OMIM13173133300205
HP:0001276HP:0031867Neck hypertonia1EBP CL E G H10682300960MEND syndrome300960C4085243OMIM13173133300205
HP:0001276HP:0002063Rigidity1EBP CL E G H10682300960MEND syndrome300960C4085243OMIM13173133300205
HP:0001276HP:0001257Spasticity1EBP CL E G H10682300960MEND syndrome300960C4085243OMIM13173133300205
HP:0001276HP:0002509Limb hypertonia1EIF2AK3 CL E G H9451226980Wolcott-Rallison dysplasia226980C0432217OMIM15203255604032
HP:0001276HP:0031867Neck hypertonia1EIF2AK3 CL E G H9451226980Wolcott-Rallison dysplasia226980C0432217OMIM15203255604032
HP:0001276HP:0002063Rigidity1EIF2AK3 CL E G H9451226980Wolcott-Rallison dysplasia226980C0432217OMIM15203255604032
HP:0001276HP:0001257Spasticity1EIF2AK3 CL E G H9451226980Wolcott-Rallison dysplasia226980C0432217OMIM15203255604032
HP:0001276HP:0002509Limb hypertonia1EIF2S3 CL E G H196885282ORPHA12083267300161
HP:0001276HP:0031867Neck hypertonia1EIF2S3 CL E G H196885282ORPHA12083267300161
HP:0001276HP:0002063Rigidity1EIF2S3 CL E G H196885282ORPHA12083267300161
HP:0001276HP:0001257Spasticity1EIF2S3 CL E G H196885282ORPHA12083267300161
HP:0001276HP:0002509Limb hypertonia1EPCAM CL E G H4072144ORPHA174411529185535
HP:0001276HP:0031867Neck hypertonia1EPCAM CL E G H4072144ORPHA174411529185535
HP:0001276HP:0002063Rigidity1EPCAM CL E G H4072144ORPHA174411529185535
HP:0001276HP:0001257Spasticity1EPCAM CL E G H4072144ORPHA174411529185535
HP:0001276HP:0002509Limb hypertonia1ERCC1 CL E G H20671466ORPHA11613433126380
HP:0001276HP:0031867Neck hypertonia1ERCC1 CL E G H20671466ORPHA11613433126380
HP:0001276HP:0002063Rigidity1ERCC1 CL E G H20671466ORPHA11613433126380
HP:0001276HP:0001257Spasticity1ERCC1 CL E G H20671466ORPHA11613433126380
HP:0001276HP:0002509Limb hypertonia1ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11613433126380
HP:0001276HP:0031867Neck hypertonia1ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11613433126380
HP:0001276HP:0002063Rigidity1ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11613433126380
HP:0001276HP:0001257Spasticity1ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11613433126380
HP:0001276HP:0002509Limb hypertonia1ERCC2 CL E G H20681466ORPHA115723434126340
HP:0001276HP:0031867Neck hypertonia1ERCC2 CL E G H20681466ORPHA115723434126340
HP:0001276HP:0002063Rigidity1ERCC2 CL E G H20681466ORPHA115723434126340
HP:0001276HP:0001257Spasticity1ERCC2 CL E G H20681466ORPHA115723434126340
HP:0001276HP:0002509Limb hypertonia1ERCC5 CL E G H20731466ORPHA14913437133530
HP:0001276HP:0031867Neck hypertonia1ERCC5 CL E G H20731466ORPHA14913437133530
HP:0001276HP:0002063Rigidity1ERCC5 CL E G H20731466ORPHA14913437133530
HP:0001276HP:0001257Spasticity1ERCC5 CL E G H20731466ORPHA14913437133530
HP:0001276HP:0002509Limb hypertonia1ERCC6 CL E G H20741466ORPHA116453438609413
HP:0001276HP:0031867Neck hypertonia1ERCC6 CL E G H20741466ORPHA116453438609413
HP:0001276HP:0002063Rigidity1ERCC6 CL E G H20741466ORPHA116453438609413
HP:0001276HP:0001257Spasticity1ERCC6 CL E G H20741466ORPHA116453438609413
HP:0001276HP:0002509Limb hypertonia1EYA1 CL E G H21382792Hyperbilirubinemia type 1ORPHA15133519601653
HP:0001276HP:0031867Neck hypertonia1EYA1 CL E G H21382792Hyperbilirubinemia type 1ORPHA15133519601653
HP:0001276HP:0002063Rigidity1EYA1 CL E G H21382792Hyperbilirubinemia type 1ORPHA15133519601653
HP:0001276HP:0001257Spasticity1EYA1 CL E G H21382792Hyperbilirubinemia type 1ORPHA15133519601653
HP:0001276HP:0002509Limb hypertonia1EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0001276HP:0031867Neck hypertonia1EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0001276HP:0002063Rigidity1EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0001276HP:0001257Spasticity1EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0001276HP:0002509Limb hypertonia1FAN1 CL E G H22909144ORPHA148229170613534
HP:0001276HP:0031867Neck hypertonia1FAN1 CL E G H22909144ORPHA148229170613534
HP:0001276HP:0002063Rigidity1FAN1 CL E G H22909144ORPHA148229170613534
HP:0001276HP:0001257Spasticity1FAN1 CL E G H22909144ORPHA148229170613534
HP:0001276HP:0002509Limb hypertonia1FKRP CL E G H79147588ORPHA195017997606596
HP:0001276HP:0031867Neck hypertonia1FKRP CL E G H79147588ORPHA195017997606596
HP:0001276HP:0002063Rigidity1FKRP CL E G H79147588ORPHA195017997606596
HP:0001276HP:0001257Spasticity1FKRP CL E G H79147588ORPHA195017997606596
HP:0001276HP:0002509Limb hypertonia1FKTN CL E G H2218588ORPHA19143622607440
HP:0001276HP:0031867Neck hypertonia1FKTN CL E G H2218588ORPHA19143622607440
HP:0001276HP:0002063Rigidity1FKTN CL E G H2218588ORPHA19143622607440
HP:0001276HP:0001257Spasticity1FKTN CL E G H2218588ORPHA19143622607440
HP:0001276HP:0002509Limb hypertonia1FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM124324678610966
HP:0001276HP:0031867Neck hypertonia1FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM124324678610966
HP:0001276HP:0002063Rigidity1FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM124324678610966
HP:0001276HP:0001257Spasticity1FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM124324678610966
HP:0001276HP:0002509Limb hypertonia1GALC CL E G H2581245200Galactosylceramide beta-galactosidase deficiency245200C0023521OMIM111854115606890
HP:0001276HP:0031867Neck hypertonia1GALC CL E G H2581245200Galactosylceramide beta-galactosidase deficiency245200C0023521OMIM111854115606890
HP:0001276HP:0002063Rigidity1GALC CL E G H2581245200Galactosylceramide beta-galactosidase deficiency245200C0023521OMIM111854115606890
HP:0001276HP:0001257Spasticity1GALC CL E G H2581245200Galactosylceramide beta-galactosidase deficiency245200C0023521OMIM111854115606890
HP:0001276HP:0002509Limb hypertonia1GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM15884136601240
HP:0001276HP:0031867Neck hypertonia1GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM15884136601240
HP:0001276HP:0002063Rigidity1GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM15884136601240
HP:0001276HP:0001257Spasticity1GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM15884136601240
HP:0001276HP:0002509Limb hypertonia1GBA CL E G H26292072ORPHA14177606463
HP:0001276HP:0031867Neck hypertonia1GBA CL E G H26292072ORPHA14177606463
HP:0001276HP:0002063Rigidity1GBA CL E G H26292072ORPHA14177606463
HP:0001276HP:0001257Spasticity1GBA CL E G H26292072ORPHA14177606463
HP:0001276HP:0002509Limb hypertonia1GBA CL E G H262985212ORPHA14177606463
HP:0001276HP:0031867Neck hypertonia1GBA CL E G H262985212ORPHA14177606463
HP:0001276HP:0002063Rigidity1GBA CL E G H262985212ORPHA14177606463
HP:0001276HP:0001257Spasticity1GBA CL E G H262985212ORPHA14177606463
HP:0001276HP:0002509Limb hypertonia1GLRA1 CL E G H2741149400Hyperekplexia hereditary149400C1835614OMIM14474326138491
HP:0001276HP:0031867Neck hypertonia1GLRA1 CL E G H2741149400Hyperekplexia hereditary149400C1835614OMIM14474326138491
HP:0001276HP:0002063Rigidity1GLRA1 CL E G H2741149400Hyperekplexia hereditary149400C1835614OMIM14474326138491
HP:0001276HP:0001257Spasticity1GLRA1 CL E G H2741149400Hyperekplexia hereditary149400C1835614OMIM14474326138491
HP:0001276HP:0002509Limb hypertonia1GLRB CL E G H2743614619Hyperekplexia 2614619C3553291OMIM13794329138492
HP:0001276HP:0031867Neck hypertonia1GLRB CL E G H2743614619Hyperekplexia 2614619C3553291OMIM13794329138492
HP:0001276HP:0002063Rigidity1GLRB CL E G H2743614619Hyperekplexia 2614619C3553291OMIM13794329138492
HP:0001276HP:0001257Spasticity1GLRB CL E G H2743614619Hyperekplexia 2614619C3553291OMIM13794329138492
HP:0001276HP:0002509Limb hypertonia1GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001276HP:0031867Neck hypertonia1GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001276HP:0002063Rigidity1GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001276HP:0001257Spasticity1GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001276HP:0002509Limb hypertonia1GMPPB CL E G H29925588ORPHA136422932615320
HP:0001276HP:0031867Neck hypertonia1GMPPB CL E G H29925588ORPHA136422932615320
HP:0001276HP:0002063Rigidity1GMPPB CL E G H29925588ORPHA136422932615320
HP:0001276HP:0001257Spasticity1GMPPB CL E G H29925588ORPHA136422932615320
HP:0001276HP:0002509Limb hypertonia1GMPPB CL E G H29925615351Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14615351C3809221OMIM136422932615320
HP:0001276HP:0031867Neck hypertonia1GMPPB CL E G H29925615351Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14615351C3809221OMIM136422932615320
HP:0001276HP:0002063Rigidity1GMPPB CL E G H29925615351Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14615351C3809221OMIM136422932615320
HP:0001276HP:0001257Spasticity1GMPPB CL E G H29925615351Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14615351C3809221OMIM136422932615320
HP:0001276HP:0002509Limb hypertonia1GPHN CL E G H10243149400Hyperekplexia hereditary149400C1835614OMIM1147315465603930
HP:0001276HP:0031867Neck hypertonia1GPHN CL E G H10243149400Hyperekplexia hereditary149400C1835614OMIM1147315465603930
HP:0001276HP:0002063Rigidity1GPHN CL E G H10243149400Hyperekplexia hereditary149400C1835614OMIM1147315465603930
HP:0001276HP:0001257Spasticity1GPHN CL E G H10243149400Hyperekplexia hereditary149400C1835614OMIM1147315465603930
HP:0001276HP:0002509Limb hypertonia1GRIN2D CL E G H2906617162Epileptic encephalopathy, early infantile, 46617162C4310687OMIM18234588602717
HP:0001276HP:0031867Neck hypertonia1GRIN2D CL E G H2906617162Epileptic encephalopathy, early infantile, 46617162C4310687OMIM18234588602717
HP:0001276HP:0002063Rigidity1GRIN2D CL E G H2906617162Epileptic encephalopathy, early infantile, 46617162C4310687OMIM18234588602717
HP:0001276HP:0001257Spasticity1GRIN2D CL E G H2906617162Epileptic encephalopathy, early infantile, 46617162C4310687OMIM18234588602717
HP:0001276HP:0002509Limb hypertonia1HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA138113315300269
HP:0001276HP:0031867Neck hypertonia1HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA138113315300269
HP:0001276HP:0002063Rigidity1HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA138113315300269
HP:0001276HP:0001257Spasticity1HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA138113315300269
HP:0001276HP:0002509Limb hypertonia1HEXA CL E G H3073272800Tay-Sachs disease272800C0039373OMIM110024878606869
HP:0001276HP:0031867Neck hypertonia1HEXA CL E G H3073272800Tay-Sachs disease272800C0039373OMIM110024878606869
HP:0001276HP:0002063Rigidity1HEXA CL E G H3073272800Tay-Sachs disease272800C0039373OMIM110024878606869
HP:0001276HP:0001257Spasticity1HEXA CL E G H3073272800Tay-Sachs disease272800C0039373OMIM110024878606869
HP:0001276HP:0002509Limb hypertonia1HIST1H1E CL E G H3008617537RAHMAN SYNDROME617537C4479637OMIM14718142220
HP:0001276HP:0031867Neck hypertonia1HIST1H1E CL E G H3008617537RAHMAN SYNDROME617537C4479637OMIM14718142220
HP:0001276HP:0002063Rigidity1HIST1H1E CL E G H3008617537RAHMAN SYNDROME617537C4479637OMIM14718142220
HP:0001276HP:0001257Spasticity1HIST1H1E CL E G H3008617537RAHMAN SYNDROME617537C4479637OMIM14718142220
HP:0001276HP:0002509Limb hypertonia1HLCS CL E G H3141253270Holocarboxylase synthetase deficiency253270C0268581OMIM18854976609018
HP:0001276HP:0031867Neck hypertonia1HLCS CL E G H3141253270Holocarboxylase synthetase deficiency253270C0268581OMIM18854976609018
HP:0001276HP:0002063Rigidity1HLCS CL E G H3141253270Holocarboxylase synthetase deficiency253270C0268581OMIM18854976609018
HP:0001276HP:0001257Spasticity1HLCS CL E G H3141253270Holocarboxylase synthetase deficiency253270C0268581OMIM18854976609018
HP:0001276HP:0002509Limb hypertonia1HNRNPH2 CL E G H3188300986Mental retardation, X-linked, syndromic, Bain type300986C4310814OMIM11965042300610
HP:0001276HP:0031867Neck hypertonia1HNRNPH2 CL E G H3188300986Mental retardation, X-linked, syndromic, Bain type300986C4310814OMIM11965042300610
HP:0001276HP:0002063Rigidity1HNRNPH2 CL E G H3188300986Mental retardation, X-linked, syndromic, Bain type300986C4310814OMIM11965042300610
HP:0001276HP:0001257Spasticity1HNRNPH2 CL E G H3188300986Mental retardation, X-linked, syndromic, Bain type300986C4310814OMIM11965042300610
HP:0001276HP:0002509Limb hypertonia1HSPG2 CL E G H3339800ORPHA124975273142461
HP:0001276HP:0031867Neck hypertonia1HSPG2 CL E G H3339800ORPHA124975273142461
HP:0001276HP:0002063Rigidity1HSPG2 CL E G H3339800ORPHA124975273142461
HP:0001276HP:0001257Spasticity1HSPG2 CL E G H3339800ORPHA124975273142461
HP:0001276HP:0002509Limb hypertonia1HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM124414348606441
HP:0001276HP:0031867Neck hypertonia1HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM124414348606441
HP:0001276HP:0002063Rigidity1HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM124414348606441
HP:0001276HP:0001257Spasticity1HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM124414348606441
HP:0001276HP:0002509Limb hypertonia1ITM2B CL E G H9445176500Dementia familial British176500C1867773OMIM11776174603904
HP:0001276HP:0031867Neck hypertonia1ITM2B CL E G H9445176500Dementia familial British176500C1867773OMIM11776174603904
HP:0001276HP:0002063Rigidity1ITM2B CL E G H9445176500Dementia familial British176500C1867773OMIM11776174603904
HP:0001276HP:0001257Spasticity1ITM2B CL E G H9445176500Dementia familial British176500C1867773OMIM11776174603904
HP:0001276HP:0002509Limb hypertonia1KCNQ2 CL E G H3785306ORPHA119626296602235
HP:0001276HP:0031867Neck hypertonia1KCNQ2 CL E G H3785306ORPHA119626296602235
HP:0001276HP:0002063Rigidity1KCNQ2 CL E G H3785306ORPHA119626296602235
HP:0001276HP:0001257Spasticity1KCNQ2 CL E G H3785306ORPHA119626296602235
HP:0001276HP:0002509Limb hypertonia1KCNQ2 CL E G H37851949Benign familial neonatal seizuresCN200689ORPHA119626296602235
HP:0001276HP:0031867Neck hypertonia1KCNQ2 CL E G H37851949Benign familial neonatal seizuresCN200689ORPHA119626296602235
HP:0001276HP:0002063Rigidity1KCNQ2 CL E G H37851949Benign familial neonatal seizuresCN200689ORPHA119626296602235
HP:0001276HP:0001257Spasticity1KCNQ2 CL E G H37851949Benign familial neonatal seizuresCN200689ORPHA119626296602235
HP:0001276HP:0002509Limb hypertonia1KCNQ3 CL E G H3786306ORPHA112276297602232
HP:0001276HP:0031867Neck hypertonia1KCNQ3 CL E G H3786306ORPHA112276297602232
HP:0001276HP:0002063Rigidity1KCNQ3 CL E G H3786306ORPHA112276297602232
HP:0001276HP:0001257Spasticity1KCNQ3 CL E G H3786306ORPHA112276297602232
HP:0001276HP:0002509Limb hypertonia1KCNQ3 CL E G H37861949Benign familial neonatal seizuresCN200689ORPHA112276297602232
HP:0001276HP:0031867Neck hypertonia1KCNQ3 CL E G H37861949Benign familial neonatal seizuresCN200689ORPHA112276297602232
HP:0001276HP:0002063Rigidity1KCNQ3 CL E G H37861949Benign familial neonatal seizuresCN200689ORPHA112276297602232
HP:0001276HP:0001257Spasticity1KCNQ3 CL E G H37861949Benign familial neonatal seizuresCN200689ORPHA112276297602232
HP:0001276HP:0002509Limb hypertonia1KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA120737132159555
HP:0001276HP:0031867Neck hypertonia1KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA120737132159555
HP:0001276HP:0002063Rigidity1KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA120737132159555
HP:0001276HP:0001257Spasticity1KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA120737132159555
HP:0001276HP:0002509Limb hypertonia1KRAS CL E G H3845144ORPHA14806407190070
HP:0001276HP:0031867Neck hypertonia1KRAS CL E G H3845144ORPHA14806407190070
HP:0001276HP:0002063Rigidity1KRAS CL E G H3845144ORPHA14806407190070
HP:0001276HP:0001257Spasticity1KRAS CL E G H3845144ORPHA14806407190070
HP:0001276HP:0002509Limb hypertonia1KYNU CL E G H894279155ORPHA1816469605197
HP:0001276HP:0031867Neck hypertonia1KYNU CL E G H894279155ORPHA1816469605197
HP:0001276HP:0002063Rigidity1KYNU CL E G H894279155ORPHA1816469605197
HP:0001276HP:0001257Spasticity1KYNU CL E G H894279155ORPHA1816469605197
HP:0001276HP:0002509Limb hypertonia1KYNU CL E G H8942236800Hydroxykynureninuria236800C0268474OMIM1816469605197
HP:0001276HP:0031867Neck hypertonia1KYNU CL E G H8942236800Hydroxykynureninuria236800C0268474OMIM1816469605197
HP:0001276HP:0002063Rigidity1KYNU CL E G H8942236800Hydroxykynureninuria236800C0268474OMIM1816469605197
HP:0001276HP:0001257Spasticity1KYNU CL E G H8942236800Hydroxykynureninuria236800C0268474OMIM1816469605197
HP:0001276HP:0002509Limb hypertonia1LARGE1 CL E G H9215588ORPHA17866511603590
HP:0001276HP:0031867Neck hypertonia1LARGE1 CL E G H9215588ORPHA17866511603590
HP:0001276HP:0002063Rigidity1LARGE1 CL E G H9215588ORPHA17866511603590
HP:0001276HP:0001257Spasticity1LARGE1 CL E G H9215588ORPHA17866511603590
HP:0001276HP:0002509Limb hypertonia1MBOAT7 CL E G H79143617188Mental retardation, autosomal recessive 57617188C4310673OMIM111315505606048
HP:0001276HP:0031867Neck hypertonia1MBOAT7 CL E G H79143617188Mental retardation, autosomal recessive 57617188C4310673OMIM111315505606048
HP:0001276HP:0002063Rigidity1MBOAT7 CL E G H79143617188Mental retardation, autosomal recessive 57617188C4310673OMIM111315505606048
HP:0001276HP:0001257Spasticity1MBOAT7 CL E G H79143617188Mental retardation, autosomal recessive 57617188C4310673OMIM111315505606048
HP:0001276HP:0002509Limb hypertonia1MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM1122216877608507
HP:0001276HP:0031867Neck hypertonia1MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM1122216877608507
HP:0001276HP:0002063Rigidity1MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM1122216877608507
HP:0001276HP:0001257Spasticity1MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM1122216877608507
HP:0001276HP:0002509Limb hypertonia1MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11487045602616
HP:0001276HP:0031867Neck hypertonia1MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11487045602616
HP:0001276HP:0002063Rigidity1MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11487045602616
HP:0001276HP:0001257Spasticity1MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11487045602616
HP:0001276HP:0002509Limb hypertonia1MIPEP CL E G H4285617228Combined oxidative phosphorylation deficiency 31617228C4310661OMIM12647104602241
HP:0001276HP:0031867Neck hypertonia1MIPEP CL E G H4285617228Combined oxidative phosphorylation deficiency 31617228C4310661OMIM12647104602241
HP:0001276HP:0002063Rigidity1MIPEP CL E G H4285617228Combined oxidative phosphorylation deficiency 31617228C4310661OMIM12647104602241
HP:0001276HP:0001257Spasticity1MIPEP CL E G H4285617228Combined oxidative phosphorylation deficiency 31617228C4310661OMIM12647104602241
HP:0001276HP:0002509Limb hypertonia1MLH1 CL E G H4292144ORPHA151227127120436
HP:0001276HP:0031867Neck hypertonia1MLH1 CL E G H4292144ORPHA151227127120436
HP:0001276HP:0002063Rigidity1MLH1 CL E G H4292144ORPHA151227127120436
HP:0001276HP:0001257Spasticity1MLH1 CL E G H4292144ORPHA151227127120436
HP:0001276HP:0002509Limb hypertonia1MLH3 CL E G H27030144ORPHA122107128604395
HP:0001276HP:0031867Neck hypertonia1MLH3 CL E G H27030144ORPHA122107128604395
HP:0001276HP:0002063Rigidity1MLH3 CL E G H27030144ORPHA122107128604395
HP:0001276HP:0001257Spasticity1MLH3 CL E G H27030144ORPHA122107128604395
HP:0001276HP:0002509Limb hypertonia1MSH2 CL E G H4436144ORPHA168567325609309
HP:0001276HP:0031867Neck hypertonia1MSH2 CL E G H4436144ORPHA168567325609309
HP:0001276HP:0002063Rigidity1MSH2 CL E G H4436144ORPHA168567325609309
HP:0001276HP:0001257Spasticity1MSH2 CL E G H4436144ORPHA168567325609309
HP:0001276HP:0002509Limb hypertonia1MSH6 CL E G H2956144ORPHA184387329600678
HP:0001276HP:0031867Neck hypertonia1MSH6 CL E G H2956144ORPHA184387329600678
HP:0001276HP:0002063Rigidity1MSH6 CL E G H2956144ORPHA184387329600678
HP:0001276HP:0001257Spasticity1MSH6 CL E G H2956144ORPHA184387329600678
HP:0001276HP:0002509Limb hypertonia1MYO5A CL E G H464479476ORPHA13377602160777
HP:0001276HP:0031867Neck hypertonia1MYO5A CL E G H464479476ORPHA13377602160777
HP:0001276HP:0002063Rigidity1MYO5A CL E G H464479476ORPHA13377602160777
HP:0001276HP:0001257Spasticity1MYO5A CL E G H464479476ORPHA13377602160777
HP:0001276HP:0002509Limb hypertonia1NAA10 CL E G H8260300855N-terminal acetyltransferase deficiency300855C3275447OMIM140118704300013
HP:0001276HP:0031867Neck hypertonia1NAA10 CL E G H8260300855N-terminal acetyltransferase deficiency300855C3275447OMIM140118704300013
HP:0001276HP:0002063Rigidity1NAA10 CL E G H8260300855N-terminal acetyltransferase deficiency300855C3275447OMIM140118704300013
HP:0001276HP:0001257Spasticity1NAA10 CL E G H8260300855N-terminal acetyltransferase deficiency300855C3275447OMIM140118704300013
HP:0001276HP:0002509Limb hypertonia1NECAP1 CL E G H25977615833Early infantile epileptic encephalopathy 21615833C4014430OMIM122124539611623
HP:0001276HP:0031867Neck hypertonia1NECAP1 CL E G H25977615833Early infantile epileptic encephalopathy 21615833C4014430OMIM122124539611623
HP:0001276HP:0002063Rigidity1NECAP1 CL E G H25977615833Early infantile epileptic encephalopathy 21615833C4014430OMIM122124539611623
HP:0001276HP:0001257Spasticity1NECAP1 CL E G H25977615833Early infantile epileptic encephalopathy 21615833C4014430OMIM122124539611623
HP:0001276HP:0002509Limb hypertonia1NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA1154228862608667
HP:0001276HP:0031867Neck hypertonia1NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA1154228862608667
HP:0001276HP:0002063Rigidity1NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA1154228862608667
HP:0001276HP:0001257Spasticity1NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA1154228862608667
HP:0001276HP:0002509Limb hypertonia1NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1154228862608667
HP:0001276HP:0031867Neck hypertonia1NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1154228862608667
HP:0001276HP:0002063Rigidity1NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1154228862608667
HP:0001276HP:0001257Spasticity1NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1154228862608667
HP:0001276HP:0002509Limb hypertonia1OGDH CL E G H496731Serpiginous choroiditisORPHA11718124613022
HP:0001276HP:0031867Neck hypertonia1OGDH CL E G H496731Serpiginous choroiditisORPHA11718124613022
HP:0001276HP:0002063Rigidity1OGDH CL E G H496731Serpiginous choroiditisORPHA11718124613022
HP:0001276HP:0001257Spasticity1OGDH CL E G H496731Serpiginous choroiditisORPHA11718124613022
HP:0001276HP:0002509Limb hypertonia1PAH CL E G H505379254ORPHA114468582612349
HP:0001276HP:0031867Neck hypertonia1PAH CL E G H505379254ORPHA114468582612349
HP:0001276HP:0002063Rigidity1PAH CL E G H505379254ORPHA114468582612349
HP:0001276HP:0001257Spasticity1PAH CL E G H505379254ORPHA114468582612349
HP:0001276HP:0002509Limb hypertonia1PARN CL E G H50733322ORPHA16278609604212
HP:0001276HP:0031867Neck hypertonia1PARN CL E G H50733322ORPHA16278609604212
HP:0001276HP:0002063Rigidity1PARN CL E G H50733322ORPHA16278609604212
HP:0001276HP:0001257Spasticity1PARN CL E G H50733322ORPHA16278609604212
HP:0001276HP:0002509Limb hypertonia1PAX1 CL E G H50752792Hyperbilirubinemia type 1ORPHA13588615167411
HP:0001276HP:0031867Neck hypertonia1PAX1 CL E G H50752792Hyperbilirubinemia type 1ORPHA13588615167411
HP:0001276HP:0002063Rigidity1PAX1 CL E G H50752792Hyperbilirubinemia type 1ORPHA13588615167411
HP:0001276HP:0001257Spasticity1PAX1 CL E G H50752792Hyperbilirubinemia type 1ORPHA13588615167411
HP:0001276HP:0002509Limb hypertonia1PCBD1 CL E G H5092264070Hyperphenylalaninemia, BH4-deficient, D264070C1849700OMIM1918646126090
HP:0001276HP:0031867Neck hypertonia1PCBD1 CL E G H5092264070Hyperphenylalaninemia, BH4-deficient, D264070C1849700OMIM1918646126090
HP:0001276HP:0002063Rigidity1PCBD1 CL E G H5092264070Hyperphenylalaninemia, BH4-deficient, D264070C1849700OMIM1918646126090
HP:0001276HP:0001257Spasticity1PCBD1 CL E G H5092264070Hyperphenylalaninemia, BH4-deficient, D264070C1849700OMIM1918646126090
HP:0001276HP:0002509Limb hypertonia1PIK3CA CL E G H5290144ORPHA111598975171834
HP:0001276HP:0031867Neck hypertonia1PIK3CA CL E G H5290144ORPHA111598975171834
HP:0001276HP:0002063Rigidity1PIK3CA CL E G H5290144ORPHA111598975171834
HP:0001276HP:0001257Spasticity1PIK3CA CL E G H5290144ORPHA111598975171834
HP:0001276HP:0002509Limb hypertonia1PITX3 CL E G H5309610623Cataract 11610623C1864567OMIM1549006602669
HP:0001276HP:0031867Neck hypertonia1PITX3 CL E G H5309610623Cataract 11610623C1864567OMIM1549006602669
HP:0001276HP:0002063Rigidity1PITX3 CL E G H5309610623Cataract 11610623C1864567OMIM1549006602669
HP:0001276HP:0001257Spasticity1PITX3 CL E G H5309610623Cataract 11610623C1864567OMIM1549006602669
HP:0001276HP:0002509Limb hypertonia1PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001276HP:0031867Neck hypertonia1PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001276HP:0002063Rigidity1PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001276HP:0001257Spasticity1PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001276HP:0002509Limb hypertonia1PLAA CL E G H9373617527NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES617527C4479631OMIM15059043603873
HP:0001276HP:0031867Neck hypertonia1PLAA CL E G H9373617527NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES617527C4479631OMIM15059043603873
HP:0001276HP:0002063Rigidity1PLAA CL E G H9373617527NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES617527C4479631OMIM15059043603873
HP:0001276HP:0001257Spasticity1PLAA CL E G H9373617527NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES617527C4479631OMIM15059043603873
HP:0001276HP:0002509Limb hypertonia1PLK4 CL E G H107332518ORPHA156811397605031
HP:0001276HP:0031867Neck hypertonia1PLK4 CL E G H107332518ORPHA156811397605031
HP:0001276HP:0002063Rigidity1PLK4 CL E G H107332518ORPHA156811397605031
HP:0001276HP:0001257Spasticity1PLK4 CL E G H107332518ORPHA156811397605031
HP:0001276HP:0002509Limb hypertonia1PLPBP CL E G H11212617290Epilepsy, early-onset, vitamin b6-dependent617290C4310632OMIM12429457604436
HP:0001276HP:0031867Neck hypertonia1PLPBP CL E G H11212617290Epilepsy, early-onset, vitamin b6-dependent617290C4310632OMIM12429457604436
HP:0001276HP:0002063Rigidity1PLPBP CL E G H11212617290Epilepsy, early-onset, vitamin b6-dependent617290C4310632OMIM12429457604436
HP:0001276HP:0001257Spasticity1PLPBP CL E G H11212617290Epilepsy, early-onset, vitamin b6-dependent617290C4310632OMIM12429457604436
HP:0001276HP:0002509Limb hypertonia1PMS1 CL E G H5378144ORPHA11259121600258
HP:0001276HP:0031867Neck hypertonia1PMS1 CL E G H5378144ORPHA11259121600258
HP:0001276HP:0002063Rigidity1PMS1 CL E G H5378144ORPHA11259121600258
HP:0001276HP:0001257Spasticity1PMS1 CL E G H5378144ORPHA11259121600258
HP:0001276HP:0002509Limb hypertonia1PMS2 CL E G H5395144ORPHA147199122600259
HP:0001276HP:0031867Neck hypertonia1PMS2 CL E G H5395144ORPHA147199122600259
HP:0001276HP:0002063Rigidity1PMS2 CL E G H5395144ORPHA147199122600259
HP:0001276HP:0001257Spasticity1PMS2 CL E G H5395144ORPHA147199122600259
HP:0001276HP:0002509Limb hypertonia1PNPO CL E G H5516379096ORPHA131730260603287
HP:0001276HP:0031867Neck hypertonia1PNPO CL E G H5516379096ORPHA131730260603287
HP:0001276HP:0002063Rigidity1PNPO CL E G H5516379096ORPHA131730260603287
HP:0001276HP:0001257Spasticity1PNPO CL E G H5516379096ORPHA131730260603287
HP:0001276HP:0002509Limb hypertonia1PNPO CL E G H55163610090Pyridoxal 5'-phosphate-dependent epilepsy610090C1864723OMIM131730260603287
HP:0001276HP:0031867Neck hypertonia1PNPO CL E G H55163610090Pyridoxal 5'-phosphate-dependent epilepsy610090C1864723OMIM131730260603287
HP:0001276HP:0002063Rigidity1PNPO CL E G H55163610090Pyridoxal 5'-phosphate-dependent epilepsy610090C1864723OMIM131730260603287
HP:0001276HP:0001257Spasticity1PNPO CL E G H55163610090Pyridoxal 5'-phosphate-dependent epilepsy610090C1864723OMIM131730260603287
HP:0001276HP:0002509Limb hypertonia1POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM123249179174763
HP:0001276HP:0031867Neck hypertonia1POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM123249179174763
HP:0001276HP:0002063Rigidity1POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM123249179174763
HP:0001276HP:0001257Spasticity1POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM123249179174763
HP:0001276HP:0002509Limb hypertonia1POMGNT1 CL E G H55624588ORPHA1117419139606822
HP:0001276HP:0031867Neck hypertonia1POMGNT1 CL E G H55624588ORPHA1117419139606822
HP:0001276HP:0002063Rigidity1POMGNT1 CL E G H55624588ORPHA1117419139606822
HP:0001276HP:0001257Spasticity1POMGNT1 CL E G H55624588ORPHA1117419139606822
HP:0001276HP:0002509Limb hypertonia1POMT1 CL E G H10585588ORPHA19069202607423
HP:0001276HP:0031867Neck hypertonia1POMT1 CL E G H10585588ORPHA19069202607423
HP:0001276HP:0002063Rigidity1POMT1 CL E G H10585588ORPHA19069202607423
HP:0001276HP:0001257Spasticity1POMT1 CL E G H10585588ORPHA19069202607423
HP:0001276HP:0002509Limb hypertonia1POMT2 CL E G H29954588ORPHA193619743607439
HP:0001276HP:0031867Neck hypertonia1POMT2 CL E G H29954588ORPHA193619743607439
HP:0001276HP:0002063Rigidity1POMT2 CL E G H29954588ORPHA193619743607439
HP:0001276HP:0001257Spasticity1POMT2 CL E G H29954588ORPHA193619743607439
HP:0001276HP:0002509Limb hypertonia1PRF1 CL E G H5551603553Hemophagocytic lymphohistiocytosis, familial, 2603553C1863727OMIM15059360170280
HP:0001276HP:0031867Neck hypertonia1PRF1 CL E G H5551603553Hemophagocytic lymphohistiocytosis, familial, 2603553C1863727OMIM15059360170280
HP:0001276HP:0002063Rigidity1PRF1 CL E G H5551603553Hemophagocytic lymphohistiocytosis, familial, 2603553C1863727OMIM15059360170280
HP:0001276HP:0001257Spasticity1PRF1 CL E G H5551603553Hemophagocytic lymphohistiocytosis, familial, 2603553C1863727OMIM15059360170280
HP:0001276HP:0002509Limb hypertonia1PRRT2 CL E G H112476306ORPHA179930500614386
HP:0001276HP:0031867Neck hypertonia1PRRT2 CL E G H112476306ORPHA179930500614386
HP:0001276HP:0002063Rigidity1PRRT2 CL E G H112476306ORPHA179930500614386
HP:0001276HP:0001257Spasticity1PRRT2 CL E G H112476306ORPHA179930500614386
HP:0001276HP:0002509Limb hypertonia1PSAP CL E G H5660611722Krabbe disease atypical due to Saposin A deficiency611722C2673266OMIM17729498176801
HP:0001276HP:0031867Neck hypertonia1PSAP CL E G H5660611722Krabbe disease atypical due to Saposin A deficiency611722C2673266OMIM17729498176801
HP:0001276HP:0002063Rigidity1PSAP CL E G H5660611722Krabbe disease atypical due to Saposin A deficiency611722C2673266OMIM17729498176801
HP:0001276HP:0001257Spasticity1PSAP CL E G H5660611722Krabbe disease atypical due to Saposin A deficiency611722C2673266OMIM17729498176801
HP:0001276HP:0002509Limb hypertonia1PSAT1 CL E G H29968610992Phosphoserine aminotransferase deficiency610992C1970253OMIM149819129610936
HP:0001276HP:0031867Neck hypertonia1PSAT1 CL E G H29968610992Phosphoserine aminotransferase deficiency610992C1970253OMIM149819129610936
HP:0001276HP:0002063Rigidity1PSAT1 CL E G H29968610992Phosphoserine aminotransferase deficiency610992C1970253OMIM149819129610936
HP:0001276HP:0001257Spasticity1PSAT1 CL E G H29968610992Phosphoserine aminotransferase deficiency610992C1970253OMIM149819129610936
HP:0001276HP:0002509Limb hypertonia1PSEN1 CL E G H56631020ORPHA15019508104311
HP:0001276HP:0031867Neck hypertonia1PSEN1 CL E G H56631020ORPHA15019508104311
HP:0001276HP:0002063Rigidity1PSEN1 CL E G H56631020ORPHA15019508104311
HP:0001276HP:0001257Spasticity1PSEN1 CL E G H56631020ORPHA15019508104311
HP:0001276HP:0002509Limb hypertonia1PSEN2 CL E G H56641020ORPHA12799509600759
HP:0001276HP:0031867Neck hypertonia1PSEN2 CL E G H56641020ORPHA12799509600759
HP:0001276HP:0002063Rigidity1PSEN2 CL E G H56641020ORPHA12799509600759
HP:0001276HP:0001257Spasticity1PSEN2 CL E G H56641020ORPHA12799509600759
HP:0001276HP:0002509Limb hypertonia1PSPH CL E G H5723614023Deficiency of phosphoserine phosphatase614023C1291463OMIM11899577172480
HP:0001276HP:0031867Neck hypertonia1PSPH CL E G H5723614023Deficiency of phosphoserine phosphatase614023C1291463OMIM11899577172480
HP:0001276HP:0002063Rigidity1PSPH CL E G H5723614023Deficiency of phosphoserine phosphatase614023C1291463OMIM11899577172480
HP:0001276HP:0001257Spasticity1PSPH CL E G H5723614023Deficiency of phosphoserine phosphatase614023C1291463OMIM11899577172480
HP:0001276HP:0002509Limb hypertonia1PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12639689612719
HP:0001276HP:0031867Neck hypertonia1PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12639689612719
HP:0001276HP:0002063Rigidity1PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12639689612719
HP:0001276HP:0001257Spasticity1PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12639689612719
HP:0001276HP:0002509Limb hypertonia1QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001276HP:0031867Neck hypertonia1QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001276HP:0002063Rigidity1QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001276HP:0001257Spasticity1QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001276HP:0002509Limb hypertonia1RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA13529811606462
HP:0001276HP:0031867Neck hypertonia1RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA13529811606462
HP:0001276HP:0002063Rigidity1RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA13529811606462
HP:0001276HP:0001257Spasticity1RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA13529811606462
HP:0001276HP:0002509Limb hypertonia1RTEL1 CL E G H517503322ORPHA1259715888608833
HP:0001276HP:0031867Neck hypertonia1RTEL1 CL E G H517503322ORPHA1259715888608833
HP:0001276HP:0002063Rigidity1RTEL1 CL E G H517503322ORPHA1259715888608833
HP:0001276HP:0001257Spasticity1RTEL1 CL E G H517503322ORPHA1259715888608833
HP:0001276HP:0002509Limb hypertonia1SCN2A CL E G H6326306ORPHA1228010588182390
HP:0001276HP:0031867Neck hypertonia1SCN2A CL E G H6326306ORPHA1228010588182390
HP:0001276HP:0002063Rigidity1SCN2A CL E G H6326306ORPHA1228010588182390
HP:0001276HP:0001257Spasticity1SCN2A CL E G H6326306ORPHA1228010588182390
HP:0001276HP:0002509Limb hypertonia1SCN4A CL E G H632999734ORPHA1176510591603967
HP:0001276HP:0031867Neck hypertonia1SCN4A CL E G H632999734ORPHA1176510591603967
HP:0001276HP:0002063Rigidity1SCN4A CL E G H632999734ORPHA1176510591603967
HP:0001276HP:0001257Spasticity1SCN4A CL E G H632999734ORPHA1176510591603967
HP:0001276HP:0002509Limb hypertonia1SCN4A CL E G H632999735ORPHA1176510591603967
HP:0001276HP:0031867Neck hypertonia1SCN4A CL E G H632999735ORPHA1176510591603967
HP:0001276HP:0002063Rigidity1SCN4A CL E G H632999735ORPHA1176510591603967
HP:0001276HP:0001257Spasticity1SCN4A CL E G H632999735ORPHA1176510591603967
HP:0001276HP:0002509Limb hypertonia1SCN4A CL E G H632999736ORPHA1176510591603967
HP:0001276HP:0031867Neck hypertonia1SCN4A CL E G H632999736ORPHA1176510591603967
HP:0001276HP:0002063Rigidity1SCN4A CL E G H632999736ORPHA1176510591603967
HP:0001276HP:0001257Spasticity1SCN4A CL E G H632999736ORPHA1176510591603967
HP:0001276HP:0002509Limb hypertonia1SCN8A CL E G H6334306ORPHA1179910596600702
HP:0001276HP:0031867Neck hypertonia1SCN8A CL E G H6334306ORPHA1179910596600702
HP:0001276HP:0002063Rigidity1SCN8A CL E G H6334306ORPHA1179910596600702
HP:0001276HP:0001257Spasticity1SCN8A CL E G H6334306ORPHA1179910596600702
HP:0001276HP:0002509Limb hypertonia1SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA190925566615743
HP:0001276HP:0031867Neck hypertonia1SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA190925566615743
HP:0001276HP:0002063Rigidity1SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA190925566615743
HP:0001276HP:0001257Spasticity1SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA190925566615743
HP:0001276HP:0002509Limb hypertonia1SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0001276HP:0031867Neck hypertonia1SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0001276HP:0002063Rigidity1SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0001276HP:0001257Spasticity1SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0001276HP:0002509Limb hypertonia1SLC6A19 CL E G H340024234500Neutral 1 amino acid transport defect234500C0018609OMIM152327960608893
HP:0001276HP:0031867Neck hypertonia1SLC6A19 CL E G H340024234500Neutral 1 amino acid transport defect234500C0018609OMIM152327960608893
HP:0001276HP:0002063Rigidity1SLC6A19 CL E G H340024234500Neutral 1 amino acid transport defect234500C0018609OMIM152327960608893
HP:0001276HP:0001257Spasticity1SLC6A19 CL E G H340024234500Neutral 1 amino acid transport defect234500C0018609OMIM152327960608893
HP:0001276HP:0002509Limb hypertonia1SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM158311049126455
HP:0001276HP:0031867Neck hypertonia1SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM158311049126455
HP:0001276HP:0002063Rigidity1SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM158311049126455
HP:0001276HP:0001257Spasticity1SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM158311049126455
HP:0001276HP:0002509Limb hypertonia1SLC6A5 CL E G H9152614618Hyperekplexia 3614618C3553288OMIM171811051604159
HP:0001276HP:0031867Neck hypertonia1SLC6A5 CL E G H9152614618Hyperekplexia 3614618C3553288OMIM171811051604159
HP:0001276HP:0002063Rigidity1SLC6A5 CL E G H9152614618Hyperekplexia 3614618C3553288OMIM171811051604159
HP:0001276HP:0001257Spasticity1SLC6A5 CL E G H9152614618Hyperekplexia 3614618C3553288OMIM171811051604159
HP:0001276HP:0002509Limb hypertonia1SLC6A8 CL E G H653552503ORPHA1106211055300036
HP:0001276HP:0031867Neck hypertonia1SLC6A8 CL E G H653552503ORPHA1106211055300036
HP:0001276HP:0002063Rigidity1SLC6A8 CL E G H653552503ORPHA1106211055300036
HP:0001276HP:0001257Spasticity1SLC6A8 CL E G H653552503ORPHA1106211055300036
HP:0001276HP:0002509Limb hypertonia1SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM126911056601019
HP:0001276HP:0031867Neck hypertonia1SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM126911056601019
HP:0001276HP:0002063Rigidity1SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM126911056601019
HP:0001276HP:0001257Spasticity1SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM126911056601019
HP:0001276HP:0002509Limb hypertonia1SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA193911111300040
HP:0001276HP:0031867Neck hypertonia1SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA193911111300040
HP:0001276HP:0002063Rigidity1SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA193911111300040
HP:0001276HP:0001257Spasticity1SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA193911111300040
HP:0001276HP:0002509Limb hypertonia1SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA14722468606062
HP:0001276HP:0031867Neck hypertonia1SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA14722468606062
HP:0001276HP:0002063Rigidity1SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA14722468606062
HP:0001276HP:0001257Spasticity1SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA14722468606062
HP:0001276HP:0002509Limb hypertonia1SORL1 CL E G H66531020ORPHA153711185602005
HP:0001276HP:0031867Neck hypertonia1SORL1 CL E G H66531020ORPHA153711185602005
HP:0001276HP:0002063Rigidity1SORL1 CL E G H66531020ORPHA153711185602005
HP:0001276HP:0001257Spasticity1SORL1 CL E G H66531020ORPHA153711185602005
HP:0001276HP:0002509Limb hypertonia1SOX10 CL E G H6663611584Waardenburg syndrome type 2E611584C2700405OMIM137811190602229
HP:0001276HP:0031867Neck hypertonia1SOX10 CL E G H6663611584Waardenburg syndrome type 2E611584C2700405OMIM137811190602229
HP:0001276HP:0002063Rigidity1SOX10 CL E G H6663611584Waardenburg syndrome type 2E611584C2700405OMIM137811190602229
HP:0001276HP:0001257Spasticity1SOX10 CL E G H6663611584Waardenburg syndrome type 2E611584C2700405OMIM137811190602229
HP:0001276HP:0002509Limb hypertonia1SUOX CL E G H6821272300Sulfite oxidase deficiency272300C0268624OMIM135311460606887
HP:0001276HP:0031867Neck hypertonia1SUOX CL E G H6821272300Sulfite oxidase deficiency272300C0268624OMIM135311460606887
HP:0001276HP:0002063Rigidity1SUOX CL E G H6821272300Sulfite oxidase deficiency272300C0268624OMIM135311460606887
HP:0001276HP:0001257Spasticity1SUOX CL E G H6821272300Sulfite oxidase deficiency272300C0268624OMIM135311460606887
HP:0001276HP:0002509Limb hypertonia1TERT CL E G H70153322ORPHA1281011730187270
HP:0001276HP:0031867Neck hypertonia1TERT CL E G H70153322ORPHA1281011730187270
HP:0001276HP:0002063Rigidity1TERT CL E G H70153322ORPHA1281011730187270
HP:0001276HP:0001257Spasticity1TERT CL E G H70153322ORPHA1281011730187270
HP:0001276HP:0002509Limb hypertonia1TGFBR2 CL E G H7048144ORPHA194811773190182
HP:0001276HP:0031867Neck hypertonia1TGFBR2 CL E G H7048144ORPHA194811773190182
HP:0001276HP:0002063Rigidity1TGFBR2 CL E G H7048144ORPHA194811773190182
HP:0001276HP:0001257Spasticity1TGFBR2 CL E G H7048144ORPHA194811773190182
HP:0001276HP:0002509Limb hypertonia1TINF2 CL E G H262773322ORPHA141111824604319
HP:0001276HP:0031867Neck hypertonia1TINF2 CL E G H262773322ORPHA141111824604319
HP:0001276HP:0002063Rigidity1TINF2 CL E G H262773322ORPHA141111824604319
HP:0001276HP:0001257Spasticity1TINF2 CL E G H262773322ORPHA141111824604319
HP:0001276HP:0002509Limb hypertonia1TINF2 CL E G H26277268130Revesz syndrome268130C1327916OMIM141111824604319
HP:0001276HP:0031867Neck hypertonia1TINF2 CL E G H26277268130Revesz syndrome268130C1327916OMIM141111824604319
HP:0001276HP:0002063Rigidity1TINF2 CL E G H26277268130Revesz syndrome268130C1327916OMIM141111824604319
HP:0001276HP:0001257Spasticity1TINF2 CL E G H26277268130Revesz syndrome268130C1327916OMIM141111824604319
HP:0001276HP:0002509Limb hypertonia1TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0001276HP:0031867Neck hypertonia1TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0001276HP:0002063Rigidity1TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0001276HP:0001257Spasticity1TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0001276HP:0002509Limb hypertonia1TOMM40 CL E G H104521020ORPHA12918001608061
HP:0001276HP:0031867Neck hypertonia1TOMM40 CL E G H104521020ORPHA12918001608061
HP:0001276HP:0002063Rigidity1TOMM40 CL E G H104521020ORPHA12918001608061
HP:0001276HP:0001257Spasticity1TOMM40 CL E G H104521020ORPHA12918001608061
HP:0001276HP:0002509Limb hypertonia1TOR1A CL E G H1861128100Dystonia 1128100C1851945OMIM12203098605204
HP:0001276HP:0031867Neck hypertonia1TOR1A CL E G H1861128100Dystonia 1128100C1851945OMIM12203098605204
HP:0001276HP:0002063Rigidity1TOR1A CL E G H1861128100Dystonia 1128100C1851945OMIM12203098605204
HP:0001276HP:0001257Spasticity1TOR1A CL E G H1861128100Dystonia 1128100C1851945OMIM12203098605204
HP:0001276HP:0002509Limb hypertonia1TOR1A CL E G H1861256Schrander-Stumpel Theunissen Hulsmans syndromeORPHA12203098605204
HP:0001276HP:0031867Neck hypertonia1TOR1A CL E G H1861256Schrander-Stumpel Theunissen Hulsmans syndromeORPHA12203098605204
HP:0001276HP:0002063Rigidity1TOR1A CL E G H1861256Schrander-Stumpel Theunissen Hulsmans syndromeORPHA12203098605204
HP:0001276HP:0001257Spasticity1TOR1A CL E G H1861256Schrander-Stumpel Theunissen Hulsmans syndromeORPHA12203098605204
HP:0001276HP:0002509Limb hypertonia1TRAF7 CL E G H84231618164CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY618164OMIM115520456606692
HP:0001276HP:0031867Neck hypertonia1TRAF7 CL E G H84231618164CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY618164OMIM115520456606692
HP:0001276HP:0002063Rigidity1TRAF7 CL E G H84231618164CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY618164OMIM115520456606692
HP:0001276HP:0001257Spasticity1TRAF7 CL E G H84231618164CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY618164OMIM115520456606692
HP:0001276HP:0002509Limb hypertonia1TREM2 CL E G H542091020ORPHA115417761605086
HP:0001276HP:0031867Neck hypertonia1TREM2 CL E G H542091020ORPHA115417761605086
HP:0001276HP:0002063Rigidity1TREM2 CL E G H542091020ORPHA115417761605086
HP:0001276HP:0001257Spasticity1TREM2 CL E G H542091020ORPHA115417761605086
HP:0001276HP:0002509Limb hypertonia1TUBGCP4 CL E G H272292518ORPHA147516691609610
HP:0001276HP:0031867Neck hypertonia1TUBGCP4 CL E G H272292518ORPHA147516691609610
HP:0001276HP:0002063Rigidity1TUBGCP4 CL E G H272292518ORPHA147516691609610
HP:0001276HP:0001257Spasticity1TUBGCP4 CL E G H272292518ORPHA147516691609610
HP:0001276HP:0002509Limb hypertonia1TUBGCP6 CL E G H853782518ORPHA1199818127610053
HP:0001276HP:0031867Neck hypertonia1TUBGCP6 CL E G H853782518ORPHA1199818127610053
HP:0001276HP:0002063Rigidity1TUBGCP6 CL E G H853782518ORPHA1199818127610053
HP:0001276HP:0001257Spasticity1TUBGCP6 CL E G H853782518ORPHA1199818127610053
HP:0001276HP:0002509Limb hypertonia1VAC14 CL E G H55697617054Striatonigral degeneration, childhood-onset617054C4310743OMIM136725507604632
HP:0001276HP:0031867Neck hypertonia1VAC14 CL E G H55697617054Striatonigral degeneration, childhood-onset617054C4310743OMIM136725507604632
HP:0001276HP:0002063Rigidity1VAC14 CL E G H55697617054Striatonigral degeneration, childhood-onset617054C4310743OMIM136725507604632
HP:0001276HP:0001257Spasticity1VAC14 CL E G H55697617054Striatonigral degeneration, childhood-onset617054C4310743OMIM136725507604632
HP:0001276HP:0002509Limb hypertonia1VPS37A CL E G H137492614898Spastic paraplegia 53, autosomal recessive614898C3539494OMIM125924928609927
HP:0001276HP:0031867Neck hypertonia1VPS37A CL E G H137492614898Spastic paraplegia 53, autosomal recessive614898C3539494OMIM125924928609927
HP:0001276HP:0002063Rigidity1VPS37A CL E G H137492614898Spastic paraplegia 53, autosomal recessive614898C3539494OMIM125924928609927
HP:0001276HP:0001257Spasticity1VPS37A CL E G H137492614898Spastic paraplegia 53, autosomal recessive614898C3539494OMIM125924928609927
HP:0001276HP:0002509Limb hypertonia1ZSWIM6 CL E G H57688617865NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES617865CN800196OMIM165929316615951
HP:0001276HP:0031867Neck hypertonia1ZSWIM6 CL E G H57688617865NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES617865CN800196OMIM165929316615951
HP:0001276HP:0002063Rigidity1ZSWIM6 CL E G H57688617865NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES617865CN800196OMIM165929316615951
HP:0001276HP:0001257Spasticity1ZSWIM6 CL E G H57688617865NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES617865CN800196OMIM165929316615951
HP:0001276HP:0002491Spasticity of facial muscles2ABCA7 CL E G H103471020ORPHA126937605414
HP:0001276HP:0200049Upper limb hypertonia2ABCA7 CL E G H103471020ORPHA126937605414
HP:0001276HP:0006895Lower limb hypertonia2ABCA7 CL E G H103471020ORPHA126937605414
HP:0001276HP:0002396Cogwheel rigidity2ABCA7 CL E G H103471020ORPHA126937605414
HP:0001276HP:0025013Decerebrate rigidity2ABCA7 CL E G H103471020ORPHA126937605414
HP:0001276HP:0011444Decorticate rigidity2ABCA7 CL E G H103471020ORPHA126937605414
HP:0001276HP:0007076Extrapyramidal muscular rigidity2ABCA7 CL E G H103471020ORPHA126937605414
HP:0001276HP:0031866Clasp-knife sign2ABCA7 CL E G H103471020ORPHA126937605414
HP:0001276HP:0002061Lower limb spasticity2ABCA7 CL E G H103471020ORPHA126937605414
HP:0001276HP:0002179Opisthotonus2ABCA7 CL E G H103471020ORPHA126937605414
HP:0001276HP:0002191Progressive spasticity2ABCA7 CL E G H103471020ORPHA126937605414
HP:0001276HP:0001264Spastic diplegia2ABCA7 CL E G H103471020ORPHA126937605414
HP:0001276HP:0002464Spastic dysarthria2ABCA7 CL E G H103471020ORPHA126937605414
HP:0001276HP:0002064Spastic gait2ABCA7 CL E G H103471020ORPHA126937605414
HP:0001276HP:0011099Spastic hemiparesis2ABCA7 CL E G H103471020ORPHA126937605414
HP:0001276HP:0001285Spastic tetraparesis2ABCA7 CL E G H103471020ORPHA126937605414
HP:0001276HP:0002510Spastic tetraplegia2ABCA7 CL E G H103471020ORPHA126937605414
HP:0001276HP:0002501Spasticity of pharyngeal muscles2ABCA7 CL E G H103471020ORPHA126937605414
HP:0001276HP:0006986Upper limb spasticity2ABCA7 CL E G H103471020ORPHA126937605414
HP:0001276HP:0002491Spasticity of facial muscles2ACD CL E G H650573322ORPHA1104925070609377
HP:0001276HP:0200049Upper limb hypertonia2ACD CL E G H650573322ORPHA1104925070609377
HP:0001276HP:0006895Lower limb hypertonia2ACD CL E G H650573322ORPHA1104925070609377
HP:0001276HP:0002396Cogwheel rigidity2ACD CL E G H650573322ORPHA1104925070609377
HP:0001276HP:0025013Decerebrate rigidity2ACD CL E G H650573322ORPHA1104925070609377
HP:0001276HP:0011444Decorticate rigidity2ACD CL E G H650573322ORPHA1104925070609377
HP:0001276HP:0007076Extrapyramidal muscular rigidity2ACD CL E G H650573322ORPHA1104925070609377
HP:0001276HP:0031866Clasp-knife sign2ACD CL E G H650573322ORPHA1104925070609377
HP:0001276HP:0002061Lower limb spasticity2ACD CL E G H650573322ORPHA1104925070609377
HP:0001276HP:0002179Opisthotonus2ACD CL E G H650573322ORPHA1104925070609377
HP:0001276HP:0002191Progressive spasticity2ACD CL E G H650573322ORPHA1104925070609377
HP:0001276HP:0001264Spastic diplegia2ACD CL E G H650573322ORPHA1104925070609377
HP:0001276HP:0002464Spastic dysarthria2ACD CL E G H650573322ORPHA1104925070609377
HP:0001276HP:0002064Spastic gait2ACD CL E G H650573322ORPHA1104925070609377
HP:0001276HP:0011099Spastic hemiparesis2ACD CL E G H650573322ORPHA1104925070609377
HP:0001276HP:0001285Spastic tetraparesis2ACD CL E G H650573322ORPHA1104925070609377
HP:0001276HP:0002510Spastic tetraplegia2ACD CL E G H650573322ORPHA1104925070609377
HP:0001276HP:0002501Spasticity of pharyngeal muscles2ACD CL E G H650573322ORPHA1104925070609377
HP:0001276HP:0006986Upper limb spasticity2ACD CL E G H650573322ORPHA1104925070609377
HP:0001276HP:0002491Spasticity of facial muscles2ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1665119609751
HP:0001276HP:0200049Upper limb hypertonia2ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1665119609751
HP:0001276HP:0006895Lower limb hypertonia2ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1665119609751
HP:0001276HP:0002396Cogwheel rigidity2ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1665119609751
HP:0001276HP:0025013Decerebrate rigidity2ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1665119609751
HP:0001276HP:0011444Decorticate rigidity2ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1665119609751
HP:0001276HP:0007076Extrapyramidal muscular rigidity2ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1665119609751
HP:0001276HP:0031866Clasp-knife sign2ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1665119609751
HP:0001276HP:0002061Lower limb spasticity2ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1665119609751
HP:0001276HP:0002179Opisthotonus2ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1665119609751
HP:0001276HP:0002191Progressive spasticity2ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1665119609751
HP:0001276HP:0001264Spastic diplegia2ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1665119609751
HP:0001276HP:0002464Spastic dysarthria2ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1665119609751
HP:0001276HP:0002064Spastic gait2ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1665119609751
HP:0001276HP:0011099Spastic hemiparesis2ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1665119609751
HP:0001276HP:0001285Spastic tetraparesis2ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1665119609751
HP:0001276HP:0002510Spastic tetraplegia2ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1665119609751
HP:0001276HP:0002501Spasticity of pharyngeal muscles2ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1665119609751
HP:0001276HP:0006986Upper limb spasticity2ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1665119609751
HP:0001276HP:0002491Spasticity of facial muscles2AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1480315604581
HP:0001276HP:0200049Upper limb hypertonia2AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1480315604581
HP:0001276HP:0006895Lower limb hypertonia2AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1480315604581
HP:0001276HP:0002396Cogwheel rigidity2AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1480315604581
HP:0001276HP:0025013Decerebrate rigidity2AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1480315604581
HP:0001276HP:0011444Decorticate rigidity2AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1480315604581
HP:0001276HP:0007076Extrapyramidal muscular rigidity2AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1480315604581
HP:0001276HP:0031866Clasp-knife sign2AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1480315604581
HP:0001276HP:0002061Lower limb spasticity2AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1480315604581
HP:0001276HP:0002179Opisthotonus2AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1480315604581
HP:0001276HP:0002191Progressive spasticity2AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1480315604581
HP:0001276HP:0001264Spastic diplegia2AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1480315604581
HP:0001276HP:0002464Spastic dysarthria2AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1480315604581
HP:0001276HP:0002064Spastic gait2AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1480315604581
HP:0001276HP:0011099Spastic hemiparesis2AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1480315604581
HP:0001276HP:0001285Spastic tetraparesis2AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1480315604581
HP:0001276HP:0002510Spastic tetraplegia2AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1480315604581
HP:0001276HP:0002501Spasticity of pharyngeal muscles2AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1480315604581
HP:0001276HP:0006986Upper limb spasticity2AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1480315604581
HP:0001276HP:0002491Spasticity of facial muscles2ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM121923056608750
HP:0001276HP:0200049Upper limb hypertonia2ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM121923056608750
HP:0001276HP:0006895Lower limb hypertonia2ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM121923056608750
HP:0001276HP:0002396Cogwheel rigidity2ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM121923056608750
HP:0001276HP:0025013Decerebrate rigidity2ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM121923056608750
HP:0001276HP:0011444Decorticate rigidity2ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM121923056608750
HP:0001276HP:0007076Extrapyramidal muscular rigidity2ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM121923056608750
HP:0001276HP:0031866Clasp-knife sign2ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM121923056608750
HP:0001276HP:0002061Lower limb spasticity2ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM121923056608750
HP:0001276HP:0002179Opisthotonus2ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM121923056608750
HP:0001276HP:0002191Progressive spasticity2ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM121923056608750
HP:0001276HP:0001264Spastic diplegia2ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM121923056608750
HP:0001276HP:0002464Spastic dysarthria2ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM121923056608750
HP:0001276HP:0002064Spastic gait2ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM121923056608750
HP:0001276HP:0011099Spastic hemiparesis2ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM121923056608750
HP:0001276HP:0001285Spastic tetraparesis2ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM121923056608750
HP:0001276HP:0002510Spastic tetraplegia2ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM121923056608750
HP:0001276HP:0002501Spasticity of pharyngeal muscles2ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM121923056608750
HP:0001276HP:0006986Upper limb spasticity2ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM121923056608750
HP:0001276HP:0002491Spasticity of facial muscles2APP CL E G H3511020ORPHA1506620104760
HP:0001276HP:0200049Upper limb hypertonia2APP CL E G H3511020ORPHA1506620104760
HP:0001276HP:0006895Lower limb hypertonia2APP CL E G H3511020ORPHA1506620104760
HP:0001276HP:0002396Cogwheel rigidity2APP CL E G H3511020ORPHA1506620104760
HP:0001276HP:0025013Decerebrate rigidity2APP CL E G H3511020ORPHA1506620104760
HP:0001276HP:0011444Decorticate rigidity2APP CL E G H3511020ORPHA1506620104760
HP:0001276HP:0007076Extrapyramidal muscular rigidity2APP CL E G H3511020ORPHA1506620104760
HP:0001276HP:0031866Clasp-knife sign2APP CL E G H3511020ORPHA1506620104760
HP:0001276HP:0002061Lower limb spasticity2APP CL E G H3511020ORPHA1506620104760
HP:0001276HP:0002179Opisthotonus2APP CL E G H3511020ORPHA1506620104760
HP:0001276HP:0002191Progressive spasticity2APP CL E G H3511020ORPHA1506620104760
HP:0001276HP:0001264Spastic diplegia2APP CL E G H3511020ORPHA1506620104760
HP:0001276HP:0002464Spastic dysarthria2APP CL E G H3511020ORPHA1506620104760
HP:0001276HP:0002064Spastic gait2APP CL E G H3511020ORPHA1506620104760
HP:0001276HP:0011099Spastic hemiparesis2APP CL E G H3511020ORPHA1506620104760
HP:0001276HP:0001285Spastic tetraparesis2APP CL E G H3511020ORPHA1506620104760
HP:0001276HP:0002510Spastic tetraplegia2APP CL E G H3511020ORPHA1506620104760
HP:0001276HP:0002501Spasticity of pharyngeal muscles2APP CL E G H3511020ORPHA1506620104760
HP:0001276HP:0006986Upper limb spasticity2APP CL E G H3511020ORPHA1506620104760
HP:0001276HP:0002491Spasticity of facial muscles2ARHGEF9 CL E G H23229300607Early infantile epileptic encephalopathy 8300607C1845102OMIM150914561300429
HP:0001276HP:0200049Upper limb hypertonia2ARHGEF9 CL E G H23229300607Early infantile epileptic encephalopathy 8300607C1845102OMIM150914561300429
HP:0001276HP:0006895Lower limb hypertonia2ARHGEF9 CL E G H23229300607Early infantile epileptic encephalopathy 8300607C1845102OMIM150914561300429
HP:0001276HP:0002396Cogwheel rigidity2ARHGEF9 CL E G H23229300607Early infantile epileptic encephalopathy 8300607C1845102OMIM150914561300429
HP:0001276HP:0025013Decerebrate rigidity2ARHGEF9 CL E G H23229300607Early infantile epileptic encephalopathy 8300607C1845102OMIM150914561300429
HP:0001276HP:0011444Decorticate rigidity2ARHGEF9 CL E G H23229300607Early infantile epileptic encephalopathy 8300607C1845102OMIM150914561300429
HP:0001276HP:0007076Extrapyramidal muscular rigidity2ARHGEF9 CL E G H23229300607Early infantile epileptic encephalopathy 8300607C1845102OMIM150914561300429
HP:0001276HP:0031866Clasp-knife sign2ARHGEF9 CL E G H23229300607Early infantile epileptic encephalopathy 8300607C1845102OMIM150914561300429
HP:0001276HP:0002061Lower limb spasticity2ARHGEF9 CL E G H23229300607Early infantile epileptic encephalopathy 8300607C1845102OMIM150914561300429
HP:0001276HP:0002179Opisthotonus2ARHGEF9 CL E G H23229300607Early infantile epileptic encephalopathy 8300607C1845102OMIM150914561300429
HP:0001276HP:0002191Progressive spasticity2ARHGEF9 CL E G H23229300607Early infantile epileptic encephalopathy 8300607C1845102OMIM150914561300429
HP:0001276HP:0001264Spastic diplegia2ARHGEF9 CL E G H23229300607Early infantile epileptic encephalopathy 8300607C1845102OMIM150914561300429
HP:0001276HP:0002464Spastic dysarthria2ARHGEF9 CL E G H23229300607Early infantile epileptic encephalopathy 8300607C1845102OMIM150914561300429
HP:0001276HP:0002064Spastic gait2ARHGEF9 CL E G H23229300607Early infantile epileptic encephalopathy 8300607C1845102OMIM150914561300429
HP:0001276HP:0011099Spastic hemiparesis2ARHGEF9 CL E G H23229300607Early infantile epileptic encephalopathy 8300607C1845102OMIM150914561300429
HP:0001276HP:0001285Spastic tetraparesis2ARHGEF9 CL E G H23229300607Early infantile epileptic encephalopathy 8300607C1845102OMIM150914561300429
HP:0001276HP:0002510Spastic tetraplegia2ARHGEF9 CL E G H23229300607Early infantile epileptic encephalopathy 8300607C1845102OMIM150914561300429
HP:0001276HP:0002501Spasticity of pharyngeal muscles2ARHGEF9 CL E G H23229300607Early infantile epileptic encephalopathy 8300607C1845102OMIM150914561300429
HP:0001276HP:0006986Upper limb spasticity2ARHGEF9 CL E G H23229300607Early infantile epileptic encephalopathy 8300607C1845102OMIM150914561300429
HP:0001276HP:0002491Spasticity of facial muscles2ARV1 CL E G H64801617020Epileptic encephalopathy, early infantile, 38617020C4310762OMIM18929561611647
HP:0001276HP:0200049Upper limb hypertonia2ARV1 CL E G H64801617020Epileptic encephalopathy, early infantile, 38617020C4310762OMIM18929561611647
HP:0001276HP:0006895Lower limb hypertonia2ARV1 CL E G H64801617020Epileptic encephalopathy, early infantile, 38617020C4310762OMIM18929561611647
HP:0001276HP:0002396Cogwheel rigidity2ARV1 CL E G H64801617020Epileptic encephalopathy, early infantile, 38617020C4310762OMIM18929561611647
HP:0001276HP:0025013Decerebrate rigidity2ARV1 CL E G H64801617020Epileptic encephalopathy, early infantile, 38617020C4310762OMIM18929561611647
HP:0001276HP:0011444Decorticate rigidity2ARV1 CL E G H64801617020Epileptic encephalopathy, early infantile, 38617020C4310762OMIM18929561611647
HP:0001276HP:0007076Extrapyramidal muscular rigidity2ARV1 CL E G H64801617020Epileptic encephalopathy, early infantile, 38617020C4310762OMIM18929561611647
HP:0001276HP:0031866Clasp-knife sign2ARV1 CL E G H64801617020Epileptic encephalopathy, early infantile, 38617020C4310762OMIM18929561611647
HP:0001276HP:0002061Lower limb spasticity2ARV1 CL E G H64801617020Epileptic encephalopathy, early infantile, 38617020C4310762OMIM18929561611647
HP:0001276HP:0002179Opisthotonus2ARV1 CL E G H64801617020Epileptic encephalopathy, early infantile, 38617020C4310762OMIM18929561611647
HP:0001276HP:0002191Progressive spasticity2ARV1 CL E G H64801617020Epileptic encephalopathy, early infantile, 38617020C4310762OMIM18929561611647
HP:0001276HP:0001264Spastic diplegia2ARV1 CL E G H64801617020Epileptic encephalopathy, early infantile, 38617020C4310762OMIM18929561611647
HP:0001276HP:0002464Spastic dysarthria2ARV1 CL E G H64801617020Epileptic encephalopathy, early infantile, 38617020C4310762OMIM18929561611647
HP:0001276HP:0002064Spastic gait2ARV1 CL E G H64801617020Epileptic encephalopathy, early infantile, 38617020C4310762OMIM18929561611647
HP:0001276HP:0011099Spastic hemiparesis2ARV1 CL E G H64801617020Epileptic encephalopathy, early infantile, 38617020C4310762OMIM18929561611647
HP:0001276HP:0001285Spastic tetraparesis2ARV1 CL E G H64801617020Epileptic encephalopathy, early infantile, 38617020C4310762OMIM18929561611647
HP:0001276HP:0002510Spastic tetraplegia2ARV1 CL E G H64801617020Epileptic encephalopathy, early infantile, 38617020C4310762OMIM18929561611647
HP:0001276HP:0002501Spasticity of pharyngeal muscles2ARV1 CL E G H64801617020Epileptic encephalopathy, early infantile, 38617020C4310762OMIM18929561611647
HP:0001276HP:0006986Upper limb spasticity2ARV1 CL E G H64801617020Epileptic encephalopathy, early infantile, 38617020C4310762OMIM18929561611647
HP:0001276HP:0002491Spasticity of facial muscles2ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001276HP:0200049Upper limb hypertonia2ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001276HP:0006895Lower limb hypertonia2ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001276HP:0002396Cogwheel rigidity2ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001276HP:0025013Decerebrate rigidity2ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001276HP:0011444Decorticate rigidity2ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001276HP:0007076Extrapyramidal muscular rigidity2ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001276HP:0031866Clasp-knife sign2ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001276HP:0002061Lower limb spasticity2ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001276HP:0002179Opisthotonus2ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001276HP:0002191Progressive spasticity2ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001276HP:0001264Spastic diplegia2ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001276HP:0002464Spastic dysarthria2ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001276HP:0002064Spastic gait2ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001276HP:0011099Spastic hemiparesis2ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001276HP:0001285Spastic tetraparesis2ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001276HP:0002510Spastic tetraplegia2ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001276HP:0002501Spasticity of pharyngeal muscles2ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001276HP:0006986Upper limb spasticity2ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001276HP:0002491Spasticity of facial muscles2ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM118325903614452
HP:0001276HP:0200049Upper limb hypertonia2ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM118325903614452
HP:0001276HP:0006895Lower limb hypertonia2ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM118325903614452
HP:0001276HP:0002396Cogwheel rigidity2ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM118325903614452
HP:0001276HP:0025013Decerebrate rigidity2ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM118325903614452
HP:0001276HP:0011444Decorticate rigidity2ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM118325903614452
HP:0001276HP:0007076Extrapyramidal muscular rigidity2ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM118325903614452
HP:0001276HP:0031866Clasp-knife sign2ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM118325903614452
HP:0001276HP:0002061Lower limb spasticity2ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM118325903614452
HP:0001276HP:0002179Opisthotonus2ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM118325903614452
HP:0001276HP:0002191Progressive spasticity2ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM118325903614452
HP:0001276HP:0001264Spastic diplegia2ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM118325903614452
HP:0001276HP:0002464Spastic dysarthria2ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM118325903614452
HP:0001276HP:0002064Spastic gait2ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM118325903614452
HP:0001276HP:0011099Spastic hemiparesis2ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM118325903614452
HP:0001276HP:0001285Spastic tetraparesis2ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM118325903614452
HP:0001276HP:0002510Spastic tetraplegia2ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM118325903614452
HP:0001276HP:0002501Spasticity of pharyngeal muscles2ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM118325903614452
HP:0001276HP:0006986Upper limb spasticity2ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM118325903614452
HP:0001276HP:0002491Spasticity of facial muscles2ATP7A CL E G H538309400Menkes kinky-hair syndrome309400C0022716OMIM11751869300011
HP:0001276HP:0200049Upper limb hypertonia2ATP7A CL E G H538309400Menkes kinky-hair syndrome309400C0022716OMIM11751869300011
HP:0001276HP:0006895Lower limb hypertonia2ATP7A CL E G H538309400Menkes kinky-hair syndrome309400C0022716OMIM11751869300011
HP:0001276HP:0002396Cogwheel rigidity2ATP7A CL E G H538309400Menkes kinky-hair syndrome309400C0022716OMIM11751869300011
HP:0001276HP:0025013Decerebrate rigidity2ATP7A CL E G H538309400Menkes kinky-hair syndrome309400C0022716OMIM11751869300011
HP:0001276HP:0011444Decorticate rigidity2ATP7A CL E G H538309400Menkes kinky-hair syndrome309400C0022716OMIM11751869300011
HP:0001276HP:0007076Extrapyramidal muscular rigidity2ATP7A CL E G H538309400Menkes kinky-hair syndrome309400C0022716OMIM11751869300011
HP:0001276HP:0031866Clasp-knife sign2ATP7A CL E G H538309400Menkes kinky-hair syndrome309400C0022716OMIM11751869300011
HP:0001276HP:0002061Lower limb spasticity2ATP7A CL E G H538309400Menkes kinky-hair syndrome309400C0022716OMIM11751869300011
HP:0001276HP:0002179Opisthotonus2ATP7A CL E G H538309400Menkes kinky-hair syndrome309400C0022716OMIM11751869300011
HP:0001276HP:0002191Progressive spasticity2ATP7A CL E G H538309400Menkes kinky-hair syndrome309400C0022716OMIM11751869300011
HP:0001276HP:0001264Spastic diplegia2ATP7A CL E G H538309400Menkes kinky-hair syndrome309400C0022716OMIM11751869300011
HP:0001276HP:0002464Spastic dysarthria2ATP7A CL E G H538309400Menkes kinky-hair syndrome309400C0022716OMIM11751869300011
HP:0001276HP:0002064Spastic gait2ATP7A CL E G H538309400Menkes kinky-hair syndrome309400C0022716OMIM11751869300011
HP:0001276HP:0011099Spastic hemiparesis2ATP7A CL E G H538309400Menkes kinky-hair syndrome309400C0022716OMIM11751869300011
HP:0001276HP:0001285Spastic tetraparesis2ATP7A CL E G H538309400Menkes kinky-hair syndrome309400C0022716OMIM11751869300011
HP:0001276HP:0002510Spastic tetraplegia2ATP7A CL E G H538309400Menkes kinky-hair syndrome309400C0022716OMIM11751869300011
HP:0001276HP:0002501Spasticity of pharyngeal muscles2ATP7A CL E G H538309400Menkes kinky-hair syndrome309400C0022716OMIM11751869300011
HP:0001276HP:0006986Upper limb spasticity2ATP7A CL E G H538309400Menkes kinky-hair syndrome309400C0022716OMIM11751869300011
HP:0001276HP:0002491Spasticity of facial muscles2B3GALNT2 CL E G H148789588ORPHA158728596610194
HP:0001276HP:0200049Upper limb hypertonia2B3GALNT2 CL E G H148789588ORPHA158728596610194
HP:0001276HP:0006895Lower limb hypertonia2B3GALNT2 CL E G H148789588ORPHA158728596610194
HP:0001276HP:0002396Cogwheel rigidity2B3GALNT2 CL E G H148789588ORPHA158728596610194
HP:0001276HP:0025013Decerebrate rigidity2B3GALNT2 CL E G H148789588ORPHA158728596610194
HP:0001276HP:0011444Decorticate rigidity2B3GALNT2 CL E G H148789588ORPHA158728596610194
HP:0001276HP:0007076Extrapyramidal muscular rigidity2B3GALNT2 CL E G H148789588ORPHA158728596610194
HP:0001276HP:0031866Clasp-knife sign2B3GALNT2 CL E G H148789588ORPHA158728596610194
HP:0001276HP:0002061Lower limb spasticity2B3GALNT2 CL E G H148789588ORPHA158728596610194
HP:0001276HP:0002179Opisthotonus2B3GALNT2 CL E G H148789588ORPHA158728596610194
HP:0001276HP:0002191Progressive spasticity2B3GALNT2 CL E G H148789588ORPHA158728596610194
HP:0001276HP:0001264Spastic diplegia2B3GALNT2 CL E G H148789588ORPHA158728596610194
HP:0001276HP:0002464Spastic dysarthria2B3GALNT2 CL E G H148789588ORPHA158728596610194
HP:0001276HP:0002064Spastic gait2B3GALNT2 CL E G H148789588ORPHA158728596610194
HP:0001276HP:0011099Spastic hemiparesis2B3GALNT2 CL E G H148789588ORPHA158728596610194
HP:0001276HP:0001285Spastic tetraparesis2B3GALNT2 CL E G H148789588ORPHA158728596610194
HP:0001276HP:0002510Spastic tetraplegia2B3GALNT2 CL E G H148789588ORPHA158728596610194
HP:0001276HP:0002501Spasticity of pharyngeal muscles2B3GALNT2 CL E G H148789588ORPHA158728596610194
HP:0001276HP:0006986Upper limb spasticity2B3GALNT2 CL E G H148789588ORPHA158728596610194
HP:0001276HP:0002491Spasticity of facial muscles2BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1596986608348
HP:0001276HP:0200049Upper limb hypertonia2BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1596986608348
HP:0001276HP:0006895Lower limb hypertonia2BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1596986608348
HP:0001276HP:0002396Cogwheel rigidity2BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1596986608348
HP:0001276HP:0025013Decerebrate rigidity2BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1596986608348
HP:0001276HP:0011444Decorticate rigidity2BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1596986608348
HP:0001276HP:0007076Extrapyramidal muscular rigidity2BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1596986608348
HP:0001276HP:0031866Clasp-knife sign2BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1596986608348
HP:0001276HP:0002061Lower limb spasticity2BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1596986608348
HP:0001276HP:0002179Opisthotonus2BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1596986608348
HP:0001276HP:0002191Progressive spasticity2BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1596986608348
HP:0001276HP:0001264Spastic diplegia2BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1596986608348
HP:0001276HP:0002464Spastic dysarthria2BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1596986608348
HP:0001276HP:0002064Spastic gait2BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1596986608348
HP:0001276HP:0011099Spastic hemiparesis2BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1596986608348
HP:0001276HP:0001285Spastic tetraparesis2BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1596986608348
HP:0001276HP:0002510Spastic tetraplegia2BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1596986608348
HP:0001276HP:0002501Spasticity of pharyngeal muscles2BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1596986608348
HP:0001276HP:0006986Upper limb spasticity2BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1596986608348
HP:0001276HP:0002491Spasticity of facial muscles2BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1647987248611
HP:0001276HP:0200049Upper limb hypertonia2BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1647987248611
HP:0001276HP:0006895Lower limb hypertonia2BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1647987248611
HP:0001276HP:0002396Cogwheel rigidity2BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1647987248611
HP:0001276HP:0025013Decerebrate rigidity2BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1647987248611
HP:0001276HP:0011444Decorticate rigidity2BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1647987248611
HP:0001276HP:0007076Extrapyramidal muscular rigidity2BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1647987248611
HP:0001276HP:0031866Clasp-knife sign2BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1647987248611
HP:0001276HP:0002061Lower limb spasticity2BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1647987248611
HP:0001276HP:0002179Opisthotonus2BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1647987248611
HP:0001276HP:0002191Progressive spasticity2BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1647987248611
HP:0001276HP:0001264Spastic diplegia2BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1647987248611
HP:0001276HP:0002464Spastic dysarthria2BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1647987248611
HP:0001276HP:0002064Spastic gait2BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1647987248611
HP:0001276HP:0011099Spastic hemiparesis2BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1647987248611
HP:0001276HP:0001285Spastic tetraparesis2BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1647987248611
HP:0001276HP:0002510Spastic tetraplegia2BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1647987248611
HP:0001276HP:0002501Spasticity of pharyngeal muscles2BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1647987248611
HP:0001276HP:0006986Upper limb spasticity2BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1647987248611
HP:0001276HP:0002491Spasticity of facial muscles2BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM111821097164757
HP:0001276HP:0200049Upper limb hypertonia2BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM111821097164757
HP:0001276HP:0006895Lower limb hypertonia2BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM111821097164757
HP:0001276HP:0002396Cogwheel rigidity2BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM111821097164757
HP:0001276HP:0025013Decerebrate rigidity2BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM111821097164757
HP:0001276HP:0011444Decorticate rigidity2BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM111821097164757
HP:0001276HP:0007076Extrapyramidal muscular rigidity2BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM111821097164757
HP:0001276HP:0031866Clasp-knife sign2BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM111821097164757
HP:0001276HP:0002061Lower limb spasticity2BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM111821097164757
HP:0001276HP:0002179Opisthotonus2BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM111821097164757
HP:0001276HP:0002191Progressive spasticity2BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM111821097164757
HP:0001276HP:0001264Spastic diplegia2BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM111821097164757
HP:0001276HP:0002464Spastic dysarthria2BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM111821097164757
HP:0001276HP:0002064Spastic gait2BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM111821097164757
HP:0001276HP:0011099Spastic hemiparesis2BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM111821097164757
HP:0001276HP:0001285Spastic tetraparesis2BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM111821097164757
HP:0001276HP:0002510Spastic tetraplegia2BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM111821097164757
HP:0001276HP:0002501Spasticity of pharyngeal muscles2BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM111821097164757
HP:0001276HP:0006986Upper limb spasticity2BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM111821097164757
HP:0001276HP:0002491Spasticity of facial muscles2BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM1114721701614506
HP:0001276HP:0200049Upper limb hypertonia2BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM1114721701614506
HP:0001276HP:0006895Lower limb hypertonia2BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM1114721701614506
HP:0001276HP:0002396Cogwheel rigidity2BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM1114721701614506
HP:0001276HP:0025013Decerebrate rigidity2BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM1114721701614506
HP:0001276HP:0011444Decorticate rigidity2BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM1114721701614506
HP:0001276HP:0007076Extrapyramidal muscular rigidity2BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM1114721701614506
HP:0001276HP:0031866Clasp-knife sign2BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM1114721701614506
HP:0001276HP:0002061Lower limb spasticity2BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM1114721701614506
HP:0001276HP:0002179Opisthotonus2BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM1114721701614506
HP:0001276HP:0002191Progressive spasticity2BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM1114721701614506
HP:0001276HP:0001264Spastic diplegia2BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM1114721701614506
HP:0001276HP:0002464Spastic dysarthria2BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM1114721701614506
HP:0001276HP:0002064Spastic gait2BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM1114721701614506
HP:0001276HP:0011099Spastic hemiparesis2BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM1114721701614506
HP:0001276HP:0001285Spastic tetraparesis2BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM1114721701614506
HP:0001276HP:0002510Spastic tetraplegia2BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM1114721701614506
HP:0001276HP:0002501Spasticity of pharyngeal muscles2BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM1114721701614506
HP:0001276HP:0006986Upper limb spasticity2BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM1114721701614506
HP:0001276HP:0002491Spasticity of facial muscles2BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM1114721701614506
HP:0001276HP:0200049Upper limb hypertonia2BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM1114721701614506
HP:0001276HP:0006895Lower limb hypertonia2BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM1114721701614506
HP:0001276HP:0002396Cogwheel rigidity2BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM1114721701614506
HP:0001276HP:0025013Decerebrate rigidity2BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM1114721701614506
HP:0001276HP:0011444Decorticate rigidity2BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM1114721701614506
HP:0001276HP:0007076Extrapyramidal muscular rigidity2BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM1114721701614506
HP:0001276HP:0031866Clasp-knife sign2BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM1114721701614506
HP:0001276HP:0002061Lower limb spasticity2BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM1114721701614506
HP:0001276HP:0002179Opisthotonus2BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM1114721701614506
HP:0001276HP:0002191Progressive spasticity2BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM1114721701614506
HP:0001276HP:0001264Spastic diplegia2BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM1114721701614506
HP:0001276HP:0002464Spastic dysarthria2BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM1114721701614506
HP:0001276HP:0002064Spastic gait2BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM1114721701614506
HP:0001276HP:0011099Spastic hemiparesis2BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM1114721701614506
HP:0001276HP:0001285Spastic tetraparesis2BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM1114721701614506
HP:0001276HP:0002510Spastic tetraplegia2BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM1114721701614506
HP:0001276HP:0002501Spasticity of pharyngeal muscles2BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM1114721701614506
HP:0001276HP:0006986Upper limb spasticity2BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM1114721701614506
HP:0001276HP:0002491Spasticity of facial muscles2CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM132481388601011
HP:0001276HP:0200049Upper limb hypertonia2CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM132481388601011
HP:0001276HP:0006895Lower limb hypertonia2CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM132481388601011
HP:0001276HP:0002396Cogwheel rigidity2CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM132481388601011
HP:0001276HP:0025013Decerebrate rigidity2CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM132481388601011
HP:0001276HP:0011444Decorticate rigidity2CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM132481388601011
HP:0001276HP:0007076Extrapyramidal muscular rigidity2CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM132481388601011
HP:0001276HP:0031866Clasp-knife sign2CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM132481388601011
HP:0001276HP:0002061Lower limb spasticity2CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM132481388601011
HP:0001276HP:0002179Opisthotonus2CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM132481388601011
HP:0001276HP:0002191Progressive spasticity2CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM132481388601011
HP:0001276HP:0001264Spastic diplegia2CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM132481388601011
HP:0001276HP:0002464Spastic dysarthria2CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM132481388601011
HP:0001276HP:0002064Spastic gait2CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM132481388601011
HP:0001276HP:0011099Spastic hemiparesis2CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM132481388601011
HP:0001276HP:0001285Spastic tetraparesis2CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM132481388601011
HP:0001276HP:0002510Spastic tetraplegia2CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM132481388601011
HP:0001276HP:0002501Spasticity of pharyngeal muscles2CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM132481388601011
HP:0001276HP:0006986Upper limb spasticity2CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM132481388601011
HP:0001276HP:0002491Spasticity of facial muscles2CLCF1 CL E G H235291545Corsello Opitz syndromeORPHA13817412607672
HP:0001276HP:0200049Upper limb hypertonia2CLCF1 CL E G H235291545Corsello Opitz syndromeORPHA13817412607672
HP:0001276HP:0006895Lower limb hypertonia2CLCF1 CL E G H235291545Corsello Opitz syndromeORPHA13817412607672
HP:0001276HP:0002396Cogwheel rigidity2CLCF1 CL E G H235291545Corsello Opitz syndromeORPHA13817412607672
HP:0001276HP:0025013Decerebrate rigidity2CLCF1 CL E G H235291545Corsello Opitz syndromeORPHA13817412607672
HP:0001276HP:0011444Decorticate rigidity2CLCF1 CL E G H235291545Corsello Opitz syndromeORPHA13817412607672
HP:0001276HP:0007076Extrapyramidal muscular rigidity2CLCF1 CL E G H235291545Corsello Opitz syndromeORPHA13817412607672
HP:0001276HP:0031866Clasp-knife sign2CLCF1 CL E G H235291545Corsello Opitz syndromeORPHA13817412607672
HP:0001276HP:0002061Lower limb spasticity2CLCF1 CL E G H235291545Corsello Opitz syndromeORPHA13817412607672
HP:0001276HP:0002179Opisthotonus2CLCF1 CL E G H235291545Corsello Opitz syndromeORPHA13817412607672
HP:0001276HP:0002191Progressive spasticity2CLCF1 CL E G H235291545Corsello Opitz syndromeORPHA13817412607672
HP:0001276HP:0001264Spastic diplegia2CLCF1 CL E G H235291545Corsello Opitz syndromeORPHA13817412607672
HP:0001276HP:0002464Spastic dysarthria2CLCF1 CL E G H235291545Corsello Opitz syndromeORPHA13817412607672
HP:0001276HP:0002064Spastic gait2CLCF1 CL E G H235291545Corsello Opitz syndromeORPHA13817412607672
HP:0001276HP:0011099Spastic hemiparesis2CLCF1 CL E G H235291545Corsello Opitz syndromeORPHA13817412607672
HP:0001276HP:0001285Spastic tetraparesis2CLCF1 CL E G H235291545Corsello Opitz syndromeORPHA13817412607672
HP:0001276HP:0002510Spastic tetraplegia2CLCF1 CL E G H235291545Corsello Opitz syndromeORPHA13817412607672
HP:0001276HP:0002501Spasticity of pharyngeal muscles2CLCF1 CL E G H235291545Corsello Opitz syndromeORPHA13817412607672
HP:0001276HP:0006986Upper limb spasticity2CLCF1 CL E G H235291545Corsello Opitz syndromeORPHA13817412607672
HP:0001276HP:0002491Spasticity of facial muscles2COG4 CL E G H25839613489Congenital disorder of glycosylation type 2J613489C3150736OMIM133918620606976
HP:0001276HP:0200049Upper limb hypertonia2COG4 CL E G H25839613489Congenital disorder of glycosylation type 2J613489C3150736OMIM133918620606976
HP:0001276HP:0006895Lower limb hypertonia2COG4 CL E G H25839613489Congenital disorder of glycosylation type 2J613489C3150736OMIM133918620606976
HP:0001276HP:0002396Cogwheel rigidity2COG4 CL E G H25839613489Congenital disorder of glycosylation type 2J613489C3150736OMIM133918620606976
HP:0001276HP:0025013Decerebrate rigidity2COG4 CL E G H25839613489Congenital disorder of glycosylation type 2J613489C3150736OMIM133918620606976
HP:0001276HP:0011444Decorticate rigidity2COG4 CL E G H25839613489Congenital disorder of glycosylation type 2J613489C3150736OMIM133918620606976
HP:0001276HP:0007076Extrapyramidal muscular rigidity2COG4 CL E G H25839613489Congenital disorder of glycosylation type 2J613489C3150736OMIM133918620606976
HP:0001276HP:0031866Clasp-knife sign2COG4 CL E G H25839613489Congenital disorder of glycosylation type 2J613489C3150736OMIM133918620606976
HP:0001276HP:0002061Lower limb spasticity2COG4 CL E G H25839613489Congenital disorder of glycosylation type 2J613489C3150736OMIM133918620606976
HP:0001276HP:0002179Opisthotonus2COG4 CL E G H25839613489Congenital disorder of glycosylation type 2J613489C3150736OMIM133918620606976
HP:0001276HP:0002191Progressive spasticity2COG4 CL E G H25839613489Congenital disorder of glycosylation type 2J613489C3150736OMIM133918620606976
HP:0001276HP:0001264Spastic diplegia2COG4 CL E G H25839613489Congenital disorder of glycosylation type 2J613489C3150736OMIM133918620606976
HP:0001276HP:0002464Spastic dysarthria2COG4 CL E G H25839613489Congenital disorder of glycosylation type 2J613489C3150736OMIM133918620606976
HP:0001276HP:0002064Spastic gait2COG4 CL E G H25839613489Congenital disorder of glycosylation type 2J613489C3150736OMIM133918620606976
HP:0001276HP:0011099Spastic hemiparesis2COG4 CL E G H25839613489Congenital disorder of glycosylation type 2J613489C3150736OMIM133918620606976
HP:0001276HP:0001285Spastic tetraparesis2COG4 CL E G H25839613489Congenital disorder of glycosylation type 2J613489C3150736OMIM133918620606976
HP:0001276HP:0002510Spastic tetraplegia2COG4 CL E G H25839613489Congenital disorder of glycosylation type 2J613489C3150736OMIM133918620606976
HP:0001276HP:0002501Spasticity of pharyngeal muscles2COG4 CL E G H25839613489Congenital disorder of glycosylation type 2J613489C3150736OMIM133918620606976
HP:0001276HP:0006986Upper limb spasticity2COG4 CL E G H25839613489Congenital disorder of glycosylation type 2J613489C3150736OMIM133918620606976
HP:0001276HP:0002491Spasticity of facial muscles2COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001276HP:0200049Upper limb hypertonia2COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001276HP:0006895Lower limb hypertonia2COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001276HP:0002396Cogwheel rigidity2COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001276HP:0025013Decerebrate rigidity2COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001276HP:0011444Decorticate rigidity2COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001276HP:0007076Extrapyramidal muscular rigidity2COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001276HP:0031866Clasp-knife sign2COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001276HP:0002061Lower limb spasticity2COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001276HP:0002179Opisthotonus2COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001276HP:0002191Progressive spasticity2COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001276HP:0001264Spastic diplegia2COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001276HP:0002464Spastic dysarthria2COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001276HP:0002064Spastic gait2COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001276HP:0011099Spastic hemiparesis2COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001276HP:0001285Spastic tetraparesis2COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001276HP:0002510Spastic tetraplegia2COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001276HP:0002501Spasticity of pharyngeal muscles2COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001276HP:0006986Upper limb spasticity2COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001276HP:0002491Spasticity of facial muscles2CP CL E G H135648818ORPHA18312295117700
HP:0001276HP:0200049Upper limb hypertonia2CP CL E G H135648818ORPHA18312295117700
HP:0001276HP:0006895Lower limb hypertonia2CP CL E G H135648818ORPHA18312295117700
HP:0001276HP:0002396Cogwheel rigidity2CP CL E G H135648818ORPHA18312295117700
HP:0001276HP:0025013Decerebrate rigidity2CP CL E G H135648818ORPHA18312295117700
HP:0001276HP:0011444Decorticate rigidity2CP CL E G H135648818ORPHA18312295117700
HP:0001276HP:0007076Extrapyramidal muscular rigidity2CP CL E G H135648818ORPHA18312295117700
HP:0001276HP:0031866Clasp-knife sign2CP CL E G H135648818ORPHA18312295117700
HP:0001276HP:0002061Lower limb spasticity2CP CL E G H135648818ORPHA18312295117700
HP:0001276HP:0002179Opisthotonus2CP CL E G H135648818ORPHA18312295117700
HP:0001276HP:0002191Progressive spasticity2CP CL E G H135648818ORPHA18312295117700
HP:0001276HP:0001264Spastic diplegia2CP CL E G H135648818ORPHA18312295117700
HP:0001276HP:0002464Spastic dysarthria2CP CL E G H135648818ORPHA18312295117700
HP:0001276HP:0002064Spastic gait2CP CL E G H135648818ORPHA18312295117700
HP:0001276HP:0011099Spastic hemiparesis2CP CL E G H135648818ORPHA18312295117700
HP:0001276HP:0001285Spastic tetraparesis2CP CL E G H135648818ORPHA18312295117700
HP:0001276HP:0002510Spastic tetraplegia2CP CL E G H135648818ORPHA18312295117700
HP:0001276HP:0002501Spasticity of pharyngeal muscles2CP CL E G H135648818ORPHA18312295117700
HP:0001276HP:0006986Upper limb spasticity2CP CL E G H135648818ORPHA18312295117700
HP:0001276HP:0002491Spasticity of facial muscles2CRLF1 CL E G H92441545Corsello Opitz syndromeORPHA11482364604237
HP:0001276HP:0200049Upper limb hypertonia2CRLF1 CL E G H92441545Corsello Opitz syndromeORPHA11482364604237
HP:0001276HP:0006895Lower limb hypertonia2CRLF1 CL E G H92441545Corsello Opitz syndromeORPHA11482364604237
HP:0001276HP:0002396Cogwheel rigidity2CRLF1 CL E G H92441545Corsello Opitz syndromeORPHA11482364604237
HP:0001276HP:0025013Decerebrate rigidity2CRLF1 CL E G H92441545Corsello Opitz syndromeORPHA11482364604237
HP:0001276HP:0011444Decorticate rigidity2CRLF1 CL E G H92441545Corsello Opitz syndromeORPHA11482364604237
HP:0001276HP:0007076Extrapyramidal muscular rigidity2CRLF1 CL E G H92441545Corsello Opitz syndromeORPHA11482364604237
HP:0001276HP:0031866Clasp-knife sign2CRLF1 CL E G H92441545Corsello Opitz syndromeORPHA11482364604237
HP:0001276HP:0002061Lower limb spasticity2CRLF1 CL E G H92441545Corsello Opitz syndromeORPHA11482364604237
HP:0001276HP:0002179Opisthotonus2CRLF1 CL E G H92441545Corsello Opitz syndromeORPHA11482364604237
HP:0001276HP:0002191Progressive spasticity2CRLF1 CL E G H92441545Corsello Opitz syndromeORPHA11482364604237
HP:0001276HP:0001264Spastic diplegia2CRLF1 CL E G H92441545Corsello Opitz syndromeORPHA11482364604237
HP:0001276HP:0002464Spastic dysarthria2CRLF1 CL E G H92441545Corsello Opitz syndromeORPHA11482364604237
HP:0001276HP:0002064Spastic gait2CRLF1 CL E G H92441545Corsello Opitz syndromeORPHA11482364604237
HP:0001276HP:0011099Spastic hemiparesis2CRLF1 CL E G H92441545Corsello Opitz syndromeORPHA11482364604237
HP:0001276HP:0001285Spastic tetraparesis2CRLF1 CL E G H92441545Corsello Opitz syndromeORPHA11482364604237
HP:0001276HP:0002510Spastic tetraplegia2CRLF1 CL E G H92441545Corsello Opitz syndromeORPHA11482364604237
HP:0001276HP:0002501Spasticity of pharyngeal muscles2CRLF1 CL E G H92441545Corsello Opitz syndromeORPHA11482364604237
HP:0001276HP:0006986Upper limb spasticity2CRLF1 CL E G H92441545Corsello Opitz syndromeORPHA11482364604237
HP:0001276HP:0002491Spasticity of facial muscles2CYB5R3 CL E G H1727250800Deficiency of cytochrome-b5 reductase250800C0268193OMIM12152873613213
HP:0001276HP:0200049Upper limb hypertonia2CYB5R3 CL E G H1727250800Deficiency of cytochrome-b5 reductase250800C0268193OMIM12152873613213
HP:0001276HP:0006895Lower limb hypertonia2CYB5R3 CL E G H1727250800Deficiency of cytochrome-b5 reductase250800C0268193OMIM12152873613213
HP:0001276HP:0002396Cogwheel rigidity2CYB5R3 CL E G H1727250800Deficiency of cytochrome-b5 reductase250800C0268193OMIM12152873613213
HP:0001276HP:0025013Decerebrate rigidity2CYB5R3 CL E G H1727250800Deficiency of cytochrome-b5 reductase250800C0268193OMIM12152873613213
HP:0001276HP:0011444Decorticate rigidity2CYB5R3 CL E G H1727250800Deficiency of cytochrome-b5 reductase250800C0268193OMIM12152873613213
HP:0001276HP:0007076Extrapyramidal muscular rigidity2CYB5R3 CL E G H1727250800Deficiency of cytochrome-b5 reductase250800C0268193OMIM12152873613213
HP:0001276HP:0031866Clasp-knife sign2CYB5R3 CL E G H1727250800Deficiency of cytochrome-b5 reductase250800C0268193OMIM12152873613213
HP:0001276HP:0002061Lower limb spasticity2CYB5R3 CL E G H1727250800Deficiency of cytochrome-b5 reductase250800C0268193OMIM12152873613213
HP:0001276HP:0002179Opisthotonus2CYB5R3 CL E G H1727250800Deficiency of cytochrome-b5 reductase250800C0268193OMIM12152873613213
HP:0001276HP:0002191Progressive spasticity2CYB5R3 CL E G H1727250800Deficiency of cytochrome-b5 reductase250800C0268193OMIM12152873613213
HP:0001276HP:0001264Spastic diplegia2CYB5R3 CL E G H1727250800Deficiency of cytochrome-b5 reductase250800C0268193OMIM12152873613213
HP:0001276HP:0002464Spastic dysarthria2CYB5R3 CL E G H1727250800Deficiency of cytochrome-b5 reductase250800C0268193OMIM12152873613213
HP:0001276HP:0002064Spastic gait2CYB5R3 CL E G H1727250800Deficiency of cytochrome-b5 reductase250800C0268193OMIM12152873613213
HP:0001276HP:0011099Spastic hemiparesis2CYB5R3 CL E G H1727250800Deficiency of cytochrome-b5 reductase250800C0268193OMIM12152873613213
HP:0001276HP:0001285Spastic tetraparesis2CYB5R3 CL E G H1727250800Deficiency of cytochrome-b5 reductase250800C0268193OMIM12152873613213
HP:0001276HP:0002510Spastic tetraplegia2CYB5R3 CL E G H1727250800Deficiency of cytochrome-b5 reductase250800C0268193OMIM12152873613213
HP:0001276HP:0002501Spasticity of pharyngeal muscles2CYB5R3 CL E G H1727250800Deficiency of cytochrome-b5 reductase250800C0268193OMIM12152873613213
HP:0001276HP:0006986Upper limb spasticity2CYB5R3 CL E G H1727250800Deficiency of cytochrome-b5 reductase250800C0268193OMIM12152873613213
HP:0001276HP:0002491Spasticity of facial muscles2DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM16832698248610
HP:0001276HP:0200049Upper limb hypertonia2DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM16832698248610
HP:0001276HP:0006895Lower limb hypertonia2DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM16832698248610
HP:0001276HP:0002396Cogwheel rigidity2DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM16832698248610
HP:0001276HP:0025013Decerebrate rigidity2DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM16832698248610
HP:0001276HP:0011444Decorticate rigidity2DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM16832698248610
HP:0001276HP:0007076Extrapyramidal muscular rigidity2DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM16832698248610
HP:0001276HP:0031866Clasp-knife sign2DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM16832698248610
HP:0001276HP:0002061Lower limb spasticity2DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM16832698248610
HP:0001276HP:0002179Opisthotonus2DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM16832698248610
HP:0001276HP:0002191Progressive spasticity2DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM16832698248610
HP:0001276HP:0001264Spastic diplegia2DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM16832698248610
HP:0001276HP:0002464Spastic dysarthria2DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM16832698248610
HP:0001276HP:0002064Spastic gait2DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM16832698248610
HP:0001276HP:0011099Spastic hemiparesis2DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM16832698248610
HP:0001276HP:0001285Spastic tetraparesis2DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM16832698248610
HP:0001276HP:0002510Spastic tetraplegia2DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM16832698248610
HP:0001276HP:0002501Spasticity of pharyngeal muscles2DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM16832698248610
HP:0001276HP:0006986Upper limb spasticity2DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM16832698248610
HP:0001276HP:0002491Spasticity of facial muscles2DCX CL E G H16412148ORPHA14232714300121
HP:0001276HP:0200049Upper limb hypertonia2DCX CL E G H16412148ORPHA14232714300121
HP:0001276HP:0006895Lower limb hypertonia2DCX CL E G H16412148ORPHA14232714300121
HP:0001276HP:0002396Cogwheel rigidity2DCX CL E G H16412148ORPHA14232714300121
HP:0001276HP:0025013Decerebrate rigidity2DCX CL E G H16412148ORPHA14232714300121
HP:0001276HP:0011444Decorticate rigidity2DCX CL E G H16412148ORPHA14232714300121
HP:0001276HP:0007076Extrapyramidal muscular rigidity2DCX CL E G H16412148ORPHA14232714300121
HP:0001276HP:0031866Clasp-knife sign2DCX CL E G H16412148ORPHA14232714300121
HP:0001276HP:0002061Lower limb spasticity2DCX CL E G H16412148ORPHA14232714300121
HP:0001276HP:0002179Opisthotonus2DCX CL E G H16412148ORPHA14232714300121
HP:0001276HP:0002191Progressive spasticity2DCX CL E G H16412148ORPHA14232714300121
HP:0001276HP:0001264Spastic diplegia2DCX CL E G H16412148ORPHA14232714300121
HP:0001276HP:0002464Spastic dysarthria2DCX CL E G H16412148ORPHA14232714300121
HP:0001276HP:0002064Spastic gait2DCX CL E G H16412148ORPHA14232714300121
HP:0001276HP:0011099Spastic hemiparesis2DCX CL E G H16412148ORPHA14232714300121
HP:0001276HP:0001285Spastic tetraparesis2DCX CL E G H16412148ORPHA14232714300121
HP:0001276HP:0002510Spastic tetraplegia2DCX CL E G H16412148ORPHA14232714300121
HP:0001276HP:0002501Spasticity of pharyngeal muscles2DCX CL E G H16412148ORPHA14232714300121
HP:0001276HP:0006986Upper limb spasticity2DCX CL E G H16412148ORPHA14232714300121
HP:0001276HP:0002491Spasticity of facial muscles2DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM17792860602858
HP:0001276HP:0200049Upper limb hypertonia2DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM17792860602858
HP:0001276HP:0006895Lower limb hypertonia2DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM17792860602858
HP:0001276HP:0002396Cogwheel rigidity2DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM17792860602858
HP:0001276HP:0025013Decerebrate rigidity2DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM17792860602858
HP:0001276HP:0011444Decorticate rigidity2DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM17792860602858
HP:0001276HP:0007076Extrapyramidal muscular rigidity2DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM17792860602858
HP:0001276HP:0031866Clasp-knife sign2DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM17792860602858
HP:0001276HP:0002061Lower limb spasticity2DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM17792860602858
HP:0001276HP:0002179Opisthotonus2DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM17792860602858
HP:0001276HP:0002191Progressive spasticity2DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM17792860602858
HP:0001276HP:0001264Spastic diplegia2DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM17792860602858
HP:0001276HP:0002464Spastic dysarthria2DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM17792860602858
HP:0001276HP:0002064Spastic gait2DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM17792860602858
HP:0001276HP:0011099Spastic hemiparesis2DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM17792860602858
HP:0001276HP:0001285Spastic tetraparesis2DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM17792860602858
HP:0001276HP:0002510Spastic tetraplegia2DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM17792860602858
HP:0001276HP:0002501Spasticity of pharyngeal muscles2DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM17792860602858
HP:0001276HP:0006986Upper limb spasticity2DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM17792860602858
HP:0001276HP:0002491Spasticity of facial muscles2DKC1 CL E G H17363322ORPHA15342890300126
HP:0001276HP:0200049Upper limb hypertonia2DKC1 CL E G H17363322ORPHA15342890300126
HP:0001276HP:0006895Lower limb hypertonia2DKC1 CL E G H17363322ORPHA15342890300126
HP:0001276HP:0002396Cogwheel rigidity2DKC1 CL E G H17363322ORPHA15342890300126
HP:0001276HP:0025013Decerebrate rigidity2DKC1 CL E G H17363322ORPHA15342890300126
HP:0001276HP:0011444Decorticate rigidity2DKC1 CL E G H17363322ORPHA15342890300126
HP:0001276HP:0007076Extrapyramidal muscular rigidity2DKC1 CL E G H17363322ORPHA15342890300126
HP:0001276HP:0031866Clasp-knife sign2DKC1 CL E G H17363322ORPHA15342890300126
HP:0001276HP:0002061Lower limb spasticity2DKC1 CL E G H17363322ORPHA15342890300126
HP:0001276HP:0002179Opisthotonus2DKC1 CL E G H17363322ORPHA15342890300126
HP:0001276HP:0002191Progressive spasticity2DKC1 CL E G H17363322ORPHA15342890300126
HP:0001276HP:0001264Spastic diplegia2DKC1 CL E G H17363322ORPHA15342890300126
HP:0001276HP:0002464Spastic dysarthria2DKC1 CL E G H17363322ORPHA15342890300126
HP:0001276HP:0002064Spastic gait2DKC1 CL E G H17363322ORPHA15342890300126
HP:0001276HP:0011099Spastic hemiparesis2DKC1 CL E G H17363322ORPHA15342890300126
HP:0001276HP:0001285Spastic tetraparesis2DKC1 CL E G H17363322ORPHA15342890300126
HP:0001276HP:0002510Spastic tetraplegia2DKC1 CL E G H17363322ORPHA15342890300126
HP:0001276HP:0002501Spasticity of pharyngeal muscles2DKC1 CL E G H17363322ORPHA15342890300126
HP:0001276HP:0006986Upper limb spasticity2DKC1 CL E G H17363322ORPHA15342890300126
HP:0001276HP:0002491Spasticity of facial muscles2DMPK CL E G H1760273ORPHA12732933605377
HP:0001276HP:0200049Upper limb hypertonia2DMPK CL E G H1760273ORPHA12732933605377
HP:0001276HP:0006895Lower limb hypertonia2DMPK CL E G H1760273ORPHA12732933605377
HP:0001276HP:0002396Cogwheel rigidity2DMPK CL E G H1760273ORPHA12732933605377
HP:0001276HP:0025013Decerebrate rigidity2DMPK CL E G H1760273ORPHA12732933605377
HP:0001276HP:0011444Decorticate rigidity2DMPK CL E G H1760273ORPHA12732933605377
HP:0001276HP:0007076Extrapyramidal muscular rigidity2DMPK CL E G H1760273ORPHA12732933605377
HP:0001276HP:0031866Clasp-knife sign2DMPK CL E G H1760273ORPHA12732933605377
HP:0001276HP:0002061Lower limb spasticity2DMPK CL E G H1760273ORPHA12732933605377
HP:0001276HP:0002179Opisthotonus2DMPK CL E G H1760273ORPHA12732933605377
HP:0001276HP:0002191Progressive spasticity2DMPK CL E G H1760273ORPHA12732933605377
HP:0001276HP:0001264Spastic diplegia2DMPK CL E G H1760273ORPHA12732933605377
HP:0001276HP:0002464Spastic dysarthria2DMPK CL E G H1760273ORPHA12732933605377
HP:0001276HP:0002064Spastic gait2DMPK CL E G H1760273ORPHA12732933605377
HP:0001276HP:0011099Spastic hemiparesis2DMPK CL E G H1760273ORPHA12732933605377
HP:0001276HP:0001285Spastic tetraparesis2DMPK CL E G H1760273ORPHA12732933605377
HP:0001276HP:0002510Spastic tetraplegia2DMPK CL E G H1760273ORPHA12732933605377
HP:0001276HP:0002501Spasticity of pharyngeal muscles2DMPK CL E G H1760273ORPHA12732933605377
HP:0001276HP:0006986Upper limb spasticity2DMPK CL E G H1760273ORPHA12732933605377
HP:0001276HP:0002491Spasticity of facial muscles2DNAJC12 CL E G H56521617384Hyperphenylalaninemia, mild, non-bh4-deficient617384C4479270OMIM111528908606060
HP:0001276HP:0200049Upper limb hypertonia2DNAJC12 CL E G H56521617384Hyperphenylalaninemia, mild, non-bh4-deficient617384C4479270OMIM111528908606060
HP:0001276HP:0006895Lower limb hypertonia2DNAJC12 CL E G H56521617384Hyperphenylalaninemia, mild, non-bh4-deficient617384C4479270OMIM111528908606060
HP:0001276HP:0002396Cogwheel rigidity2DNAJC12 CL E G H56521617384Hyperphenylalaninemia, mild, non-bh4-deficient617384C4479270OMIM111528908606060
HP:0001276HP:0025013Decerebrate rigidity2DNAJC12 CL E G H56521617384Hyperphenylalaninemia, mild, non-bh4-deficient617384C4479270OMIM111528908606060
HP:0001276HP:0011444Decorticate rigidity2DNAJC12 CL E G H56521617384Hyperphenylalaninemia, mild, non-bh4-deficient617384C4479270OMIM111528908606060
HP:0001276HP:0007076Extrapyramidal muscular rigidity2DNAJC12 CL E G H56521617384Hyperphenylalaninemia, mild, non-bh4-deficient617384C4479270OMIM111528908606060
HP:0001276HP:0031866Clasp-knife sign2DNAJC12 CL E G H56521617384Hyperphenylalaninemia, mild, non-bh4-deficient617384C4479270OMIM111528908606060
HP:0001276HP:0002061Lower limb spasticity2DNAJC12 CL E G H56521617384Hyperphenylalaninemia, mild, non-bh4-deficient617384C4479270OMIM111528908606060
HP:0001276HP:0002179Opisthotonus2DNAJC12 CL E G H56521617384Hyperphenylalaninemia, mild, non-bh4-deficient617384C4479270OMIM111528908606060
HP:0001276HP:0002191Progressive spasticity2DNAJC12 CL E G H56521617384Hyperphenylalaninemia, mild, non-bh4-deficient617384C4479270OMIM111528908606060
HP:0001276HP:0001264Spastic diplegia2DNAJC12 CL E G H56521617384Hyperphenylalaninemia, mild, non-bh4-deficient617384C4479270OMIM111528908606060
HP:0001276HP:0002464Spastic dysarthria2DNAJC12 CL E G H56521617384Hyperphenylalaninemia, mild, non-bh4-deficient617384C4479270OMIM111528908606060
HP:0001276HP:0002064Spastic gait2DNAJC12 CL E G H56521617384Hyperphenylalaninemia, mild, non-bh4-deficient617384C4479270OMIM111528908606060
HP:0001276HP:0011099Spastic hemiparesis2DNAJC12 CL E G H56521617384Hyperphenylalaninemia, mild, non-bh4-deficient617384C4479270OMIM111528908606060
HP:0001276HP:0001285Spastic tetraparesis2DNAJC12 CL E G H56521617384Hyperphenylalaninemia, mild, non-bh4-deficient617384C4479270OMIM111528908606060
HP:0001276HP:0002510Spastic tetraplegia2DNAJC12 CL E G H56521617384Hyperphenylalaninemia, mild, non-bh4-deficient617384C4479270OMIM111528908606060
HP:0001276HP:0002501Spasticity of pharyngeal muscles2DNAJC12 CL E G H56521617384Hyperphenylalaninemia, mild, non-bh4-deficient617384C4479270OMIM111528908606060
HP:0001276HP:0006986Upper limb spasticity2DNAJC12 CL E G H56521617384Hyperphenylalaninemia, mild, non-bh4-deficient617384C4479270OMIM111528908606060
HP:0001276HP:0002491Spasticity of facial muscles2DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM13122995191350
HP:0001276HP:0200049Upper limb hypertonia2DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM13122995191350
HP:0001276HP:0006895Lower limb hypertonia2DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM13122995191350
HP:0001276HP:0002396Cogwheel rigidity2DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM13122995191350
HP:0001276HP:0025013Decerebrate rigidity2DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM13122995191350
HP:0001276HP:0011444Decorticate rigidity2DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM13122995191350
HP:0001276HP:0007076Extrapyramidal muscular rigidity2DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM13122995191350
HP:0001276HP:0031866Clasp-knife sign2DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM13122995191350
HP:0001276HP:0002061Lower limb spasticity2DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM13122995191350
HP:0001276HP:0002179Opisthotonus2DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM13122995191350
HP:0001276HP:0002191Progressive spasticity2DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM13122995191350
HP:0001276HP:0001264Spastic diplegia2DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM13122995191350
HP:0001276HP:0002464Spastic dysarthria2DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM13122995191350
HP:0001276HP:0002064Spastic gait2DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM13122995191350
HP:0001276HP:0011099Spastic hemiparesis2DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM13122995191350
HP:0001276HP:0001285Spastic tetraparesis2DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM13122995191350
HP:0001276HP:0002510Spastic tetraplegia2DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM13122995191350
HP:0001276HP:0002501Spasticity of pharyngeal muscles2DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM13122995191350
HP:0001276HP:0006986Upper limb spasticity2DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM13122995191350
HP:0001276HP:0002491Spasticity of facial muscles2DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM14463012612779
HP:0001276HP:0200049Upper limb hypertonia2DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM14463012612779
HP:0001276HP:0006895Lower limb hypertonia2DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM14463012612779
HP:0001276HP:0002396Cogwheel rigidity2DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM14463012612779
HP:0001276HP:0025013Decerebrate rigidity2DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM14463012612779
HP:0001276HP:0011444Decorticate rigidity2DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM14463012612779
HP:0001276HP:0007076Extrapyramidal muscular rigidity2DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM14463012612779
HP:0001276HP:0031866Clasp-knife sign2DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM14463012612779
HP:0001276HP:0002061Lower limb spasticity2DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM14463012612779
HP:0001276HP:0002179Opisthotonus2DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM14463012612779
HP:0001276HP:0002191Progressive spasticity2DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM14463012612779
HP:0001276HP:0001264Spastic diplegia2DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM14463012612779
HP:0001276HP:0002464Spastic dysarthria2DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM14463012612779
HP:0001276HP:0002064Spastic gait2DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM14463012612779
HP:0001276HP:0011099Spastic hemiparesis2DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM14463012612779
HP:0001276HP:0001285Spastic tetraparesis2DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM14463012612779
HP:0001276HP:0002510Spastic tetraplegia2DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM14463012612779
HP:0001276HP:0002501Spasticity of pharyngeal muscles2DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM14463012612779
HP:0001276HP:0006986Upper limb spasticity2DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM14463012612779
HP:0001276HP:0002491Spasticity of facial muscles2EBP CL E G H10682300960MEND syndrome300960C4085243OMIM13173133300205
HP:0001276HP:0200049Upper limb hypertonia2EBP CL E G H10682300960MEND syndrome300960C4085243OMIM13173133300205
HP:0001276HP:0006895Lower limb hypertonia2EBP CL E G H10682300960MEND syndrome300960C4085243OMIM13173133300205
HP:0001276HP:0002396Cogwheel rigidity2EBP CL E G H10682300960MEND syndrome300960C4085243OMIM13173133300205
HP:0001276HP:0025013Decerebrate rigidity2EBP CL E G H10682300960MEND syndrome300960C4085243OMIM13173133300205
HP:0001276HP:0011444Decorticate rigidity2EBP CL E G H10682300960MEND syndrome300960C4085243OMIM13173133300205
HP:0001276HP:0007076Extrapyramidal muscular rigidity2EBP CL E G H10682300960MEND syndrome300960C4085243OMIM13173133300205
HP:0001276HP:0031866Clasp-knife sign2EBP CL E G H10682300960MEND syndrome300960C4085243OMIM13173133300205
HP:0001276HP:0002061Lower limb spasticity2EBP CL E G H10682300960MEND syndrome300960C4085243OMIM13173133300205
HP:0001276HP:0002179Opisthotonus2EBP CL E G H10682300960MEND syndrome300960C4085243OMIM13173133300205
HP:0001276HP:0002191Progressive spasticity2EBP CL E G H10682300960MEND syndrome300960C4085243OMIM13173133300205
HP:0001276HP:0001264Spastic diplegia2EBP CL E G H10682300960MEND syndrome300960C4085243OMIM13173133300205
HP:0001276HP:0002464Spastic dysarthria2EBP CL E G H10682300960MEND syndrome300960C4085243OMIM13173133300205
HP:0001276HP:0002064Spastic gait2EBP CL E G H10682300960MEND syndrome300960C4085243OMIM13173133300205
HP:0001276HP:0011099Spastic hemiparesis2EBP CL E G H10682300960MEND syndrome300960C4085243OMIM13173133300205
HP:0001276HP:0001285Spastic tetraparesis2EBP CL E G H10682300960MEND syndrome300960C4085243OMIM13173133300205
HP:0001276HP:0002510Spastic tetraplegia2EBP CL E G H10682300960MEND syndrome300960C4085243OMIM13173133300205
HP:0001276HP:0002501Spasticity of pharyngeal muscles2EBP CL E G H10682300960MEND syndrome300960C4085243OMIM13173133300205
HP:0001276HP:0006986Upper limb spasticity2EBP CL E G H10682300960MEND syndrome300960C4085243OMIM13173133300205
HP:0001276HP:0002491Spasticity of facial muscles2EIF2AK3 CL E G H9451226980Wolcott-Rallison dysplasia226980C0432217OMIM15203255604032
HP:0001276HP:0200049Upper limb hypertonia2EIF2AK3 CL E G H9451226980Wolcott-Rallison dysplasia226980C0432217OMIM15203255604032
HP:0001276HP:0006895Lower limb hypertonia2EIF2AK3 CL E G H9451226980Wolcott-Rallison dysplasia226980C0432217OMIM15203255604032
HP:0001276HP:0002396Cogwheel rigidity2EIF2AK3 CL E G H9451226980Wolcott-Rallison dysplasia226980C0432217OMIM15203255604032
HP:0001276HP:0025013Decerebrate rigidity2EIF2AK3 CL E G H9451226980Wolcott-Rallison dysplasia226980C0432217OMIM15203255604032
HP:0001276HP:0011444Decorticate rigidity2EIF2AK3 CL E G H9451226980Wolcott-Rallison dysplasia226980C0432217OMIM15203255604032
HP:0001276HP:0007076Extrapyramidal muscular rigidity2EIF2AK3 CL E G H9451226980Wolcott-Rallison dysplasia226980C0432217OMIM15203255604032
HP:0001276HP:0031866Clasp-knife sign2EIF2AK3 CL E G H9451226980Wolcott-Rallison dysplasia226980C0432217OMIM15203255604032
HP:0001276HP:0002061Lower limb spasticity2EIF2AK3 CL E G H9451226980Wolcott-Rallison dysplasia226980C0432217OMIM15203255604032
HP:0001276HP:0002179Opisthotonus2EIF2AK3 CL E G H9451226980Wolcott-Rallison dysplasia226980C0432217OMIM15203255604032
HP:0001276HP:0002191Progressive spasticity2EIF2AK3 CL E G H9451226980Wolcott-Rallison dysplasia226980C0432217OMIM15203255604032
HP:0001276HP:0001264Spastic diplegia2EIF2AK3 CL E G H9451226980Wolcott-Rallison dysplasia226980C0432217OMIM15203255604032
HP:0001276HP:0002464Spastic dysarthria2EIF2AK3 CL E G H9451226980Wolcott-Rallison dysplasia226980C0432217OMIM15203255604032
HP:0001276HP:0002064Spastic gait2EIF2AK3 CL E G H9451226980Wolcott-Rallison dysplasia226980C0432217OMIM15203255604032
HP:0001276HP:0011099Spastic hemiparesis2EIF2AK3 CL E G H9451226980Wolcott-Rallison dysplasia226980C0432217OMIM15203255604032
HP:0001276HP:0001285Spastic tetraparesis2EIF2AK3 CL E G H9451226980Wolcott-Rallison dysplasia226980C0432217OMIM15203255604032
HP:0001276HP:0002510Spastic tetraplegia2EIF2AK3 CL E G H9451226980Wolcott-Rallison dysplasia226980C0432217OMIM15203255604032
HP:0001276HP:0002501Spasticity of pharyngeal muscles2EIF2AK3 CL E G H9451226980Wolcott-Rallison dysplasia226980C0432217OMIM15203255604032
HP:0001276HP:0006986Upper limb spasticity2EIF2AK3 CL E G H9451226980Wolcott-Rallison dysplasia226980C0432217OMIM15203255604032
HP:0001276HP:0002491Spasticity of facial muscles2EIF2S3 CL E G H196885282ORPHA12083267300161
HP:0001276HP:0200049Upper limb hypertonia2EIF2S3 CL E G H196885282ORPHA12083267300161
HP:0001276HP:0006895Lower limb hypertonia2EIF2S3 CL E G H196885282ORPHA12083267300161
HP:0001276HP:0002396Cogwheel rigidity2EIF2S3 CL E G H196885282ORPHA12083267300161
HP:0001276HP:0025013Decerebrate rigidity2EIF2S3 CL E G H196885282ORPHA12083267300161
HP:0001276HP:0011444Decorticate rigidity2EIF2S3 CL E G H196885282ORPHA12083267300161
HP:0001276HP:0007076Extrapyramidal muscular rigidity2EIF2S3 CL E G H196885282ORPHA12083267300161
HP:0001276HP:0031866Clasp-knife sign2EIF2S3 CL E G H196885282ORPHA12083267300161
HP:0001276HP:0002061Lower limb spasticity2EIF2S3 CL E G H196885282ORPHA12083267300161
HP:0001276HP:0002179Opisthotonus2EIF2S3 CL E G H196885282ORPHA12083267300161
HP:0001276HP:0002191Progressive spasticity2EIF2S3 CL E G H196885282ORPHA12083267300161
HP:0001276HP:0001264Spastic diplegia2EIF2S3 CL E G H196885282ORPHA12083267300161
HP:0001276HP:0002464Spastic dysarthria2EIF2S3 CL E G H196885282ORPHA12083267300161
HP:0001276HP:0002064Spastic gait2EIF2S3 CL E G H196885282ORPHA12083267300161
HP:0001276HP:0011099Spastic hemiparesis2EIF2S3 CL E G H196885282ORPHA12083267300161
HP:0001276HP:0001285Spastic tetraparesis2EIF2S3 CL E G H196885282ORPHA12083267300161
HP:0001276HP:0002510Spastic tetraplegia2EIF2S3 CL E G H196885282ORPHA12083267300161
HP:0001276HP:0002501Spasticity of pharyngeal muscles2EIF2S3 CL E G H196885282ORPHA12083267300161
HP:0001276HP:0006986Upper limb spasticity2EIF2S3 CL E G H196885282ORPHA12083267300161
HP:0001276HP:0002491Spasticity of facial muscles2EPCAM CL E G H4072144ORPHA174411529185535
HP:0001276HP:0200049Upper limb hypertonia2EPCAM CL E G H4072144ORPHA174411529185535
HP:0001276HP:0006895Lower limb hypertonia2EPCAM CL E G H4072144ORPHA174411529185535
HP:0001276HP:0002396Cogwheel rigidity2EPCAM CL E G H4072144ORPHA174411529185535
HP:0001276HP:0025013Decerebrate rigidity2EPCAM CL E G H4072144ORPHA174411529185535
HP:0001276HP:0011444Decorticate rigidity2EPCAM CL E G H4072144ORPHA174411529185535
HP:0001276HP:0007076Extrapyramidal muscular rigidity2EPCAM CL E G H4072144ORPHA174411529185535
HP:0001276HP:0031866Clasp-knife sign2EPCAM CL E G H4072144ORPHA174411529185535
HP:0001276HP:0002061Lower limb spasticity2EPCAM CL E G H4072144ORPHA174411529185535
HP:0001276HP:0002179Opisthotonus2EPCAM CL E G H4072144ORPHA174411529185535
HP:0001276HP:0002191Progressive spasticity2EPCAM CL E G H4072144ORPHA174411529185535
HP:0001276HP:0001264Spastic diplegia2EPCAM CL E G H4072144ORPHA174411529185535
HP:0001276HP:0002464Spastic dysarthria2EPCAM CL E G H4072144ORPHA174411529185535
HP:0001276HP:0002064Spastic gait2EPCAM CL E G H4072144ORPHA174411529185535
HP:0001276HP:0011099Spastic hemiparesis2EPCAM CL E G H4072144ORPHA174411529185535
HP:0001276HP:0001285Spastic tetraparesis2EPCAM CL E G H4072144ORPHA174411529185535
HP:0001276HP:0002510Spastic tetraplegia2EPCAM CL E G H4072144ORPHA174411529185535
HP:0001276HP:0002501Spasticity of pharyngeal muscles2EPCAM CL E G H4072144ORPHA174411529185535
HP:0001276HP:0006986Upper limb spasticity2EPCAM CL E G H4072144ORPHA174411529185535
HP:0001276HP:0002491Spasticity of facial muscles2ERCC1 CL E G H20671466ORPHA11613433126380
HP:0001276HP:0200049Upper limb hypertonia2ERCC1 CL E G H20671466ORPHA11613433126380
HP:0001276HP:0006895Lower limb hypertonia2ERCC1 CL E G H20671466ORPHA11613433126380
HP:0001276HP:0002396Cogwheel rigidity2ERCC1 CL E G H20671466ORPHA11613433126380
HP:0001276HP:0025013Decerebrate rigidity2ERCC1 CL E G H20671466ORPHA11613433126380
HP:0001276HP:0011444Decorticate rigidity2ERCC1 CL E G H20671466ORPHA11613433126380
HP:0001276HP:0007076Extrapyramidal muscular rigidity2ERCC1 CL E G H20671466ORPHA11613433126380
HP:0001276HP:0031866Clasp-knife sign2ERCC1 CL E G H20671466ORPHA11613433126380
HP:0001276HP:0002061Lower limb spasticity2ERCC1 CL E G H20671466ORPHA11613433126380
HP:0001276HP:0002179Opisthotonus2ERCC1 CL E G H20671466ORPHA11613433126380
HP:0001276HP:0002191Progressive spasticity2ERCC1 CL E G H20671466ORPHA11613433126380
HP:0001276HP:0001264Spastic diplegia2ERCC1 CL E G H20671466ORPHA11613433126380
HP:0001276HP:0002464Spastic dysarthria2ERCC1 CL E G H20671466ORPHA11613433126380
HP:0001276HP:0002064Spastic gait2ERCC1 CL E G H20671466ORPHA11613433126380
HP:0001276HP:0011099Spastic hemiparesis2ERCC1 CL E G H20671466ORPHA11613433126380
HP:0001276HP:0001285Spastic tetraparesis2ERCC1 CL E G H20671466ORPHA11613433126380
HP:0001276HP:0002510Spastic tetraplegia2ERCC1 CL E G H20671466ORPHA11613433126380
HP:0001276HP:0002501Spasticity of pharyngeal muscles2ERCC1 CL E G H20671466ORPHA11613433126380
HP:0001276HP:0006986Upper limb spasticity2ERCC1 CL E G H20671466ORPHA11613433126380
HP:0001276HP:0002491Spasticity of facial muscles2ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11613433126380
HP:0001276HP:0200049Upper limb hypertonia2ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11613433126380
HP:0001276HP:0006895Lower limb hypertonia2ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11613433126380
HP:0001276HP:0002396Cogwheel rigidity2ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11613433126380
HP:0001276HP:0025013Decerebrate rigidity2ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11613433126380
HP:0001276HP:0011444Decorticate rigidity2ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11613433126380
HP:0001276HP:0007076Extrapyramidal muscular rigidity2ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11613433126380
HP:0001276HP:0031866Clasp-knife sign2ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11613433126380
HP:0001276HP:0002061Lower limb spasticity2ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11613433126380
HP:0001276HP:0002179Opisthotonus2ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11613433126380
HP:0001276HP:0002191Progressive spasticity2ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11613433126380
HP:0001276HP:0001264Spastic diplegia2ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11613433126380
HP:0001276HP:0002464Spastic dysarthria2ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11613433126380
HP:0001276HP:0002064Spastic gait2ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11613433126380
HP:0001276HP:0011099Spastic hemiparesis2ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11613433126380
HP:0001276HP:0001285Spastic tetraparesis2ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11613433126380
HP:0001276HP:0002510Spastic tetraplegia2ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11613433126380
HP:0001276HP:0002501Spasticity of pharyngeal muscles2ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11613433126380
HP:0001276HP:0006986Upper limb spasticity2ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11613433126380
HP:0001276HP:0002491Spasticity of facial muscles2ERCC2 CL E G H20681466ORPHA115723434126340
HP:0001276HP:0200049Upper limb hypertonia2ERCC2 CL E G H20681466ORPHA115723434126340
HP:0001276HP:0006895Lower limb hypertonia2ERCC2 CL E G H20681466ORPHA115723434126340
HP:0001276HP:0002396Cogwheel rigidity2ERCC2 CL E G H20681466ORPHA115723434126340
HP:0001276HP:0025013Decerebrate rigidity2ERCC2 CL E G H20681466ORPHA115723434126340
HP:0001276HP:0011444Decorticate rigidity2ERCC2 CL E G H20681466ORPHA115723434126340
HP:0001276HP:0007076Extrapyramidal muscular rigidity2ERCC2 CL E G H20681466ORPHA115723434126340
HP:0001276HP:0031866Clasp-knife sign2ERCC2 CL E G H20681466ORPHA115723434126340
HP:0001276HP:0002061Lower limb spasticity2ERCC2 CL E G H20681466ORPHA115723434126340
HP:0001276HP:0002179Opisthotonus2ERCC2 CL E G H20681466ORPHA115723434126340
HP:0001276HP:0002191Progressive spasticity2ERCC2 CL E G H20681466ORPHA115723434126340
HP:0001276HP:0001264Spastic diplegia2ERCC2 CL E G H20681466ORPHA115723434126340
HP:0001276HP:0002464Spastic dysarthria2ERCC2 CL E G H20681466ORPHA115723434126340
HP:0001276HP:0002064Spastic gait2ERCC2 CL E G H20681466ORPHA115723434126340
HP:0001276HP:0011099Spastic hemiparesis2ERCC2 CL E G H20681466ORPHA115723434126340
HP:0001276HP:0001285Spastic tetraparesis2ERCC2 CL E G H20681466ORPHA115723434126340
HP:0001276HP:0002510Spastic tetraplegia2ERCC2 CL E G H20681466ORPHA115723434126340
HP:0001276HP:0002501Spasticity of pharyngeal muscles2ERCC2 CL E G H20681466ORPHA115723434126340
HP:0001276HP:0006986Upper limb spasticity2ERCC2 CL E G H20681466ORPHA115723434126340
HP:0001276HP:0002491Spasticity of facial muscles2ERCC5 CL E G H20731466ORPHA14913437133530
HP:0001276HP:0200049Upper limb hypertonia2ERCC5 CL E G H20731466ORPHA14913437133530
HP:0001276HP:0006895Lower limb hypertonia2ERCC5 CL E G H20731466ORPHA14913437133530
HP:0001276HP:0002396Cogwheel rigidity2ERCC5 CL E G H20731466ORPHA14913437133530
HP:0001276HP:0025013Decerebrate rigidity2ERCC5 CL E G H20731466ORPHA14913437133530
HP:0001276HP:0011444Decorticate rigidity2ERCC5 CL E G H20731466ORPHA14913437133530
HP:0001276HP:0007076Extrapyramidal muscular rigidity2ERCC5 CL E G H20731466ORPHA14913437133530
HP:0001276HP:0031866Clasp-knife sign2ERCC5 CL E G H20731466ORPHA14913437133530
HP:0001276HP:0002061Lower limb spasticity2ERCC5 CL E G H20731466ORPHA14913437133530
HP:0001276HP:0002179Opisthotonus2ERCC5 CL E G H20731466ORPHA14913437133530
HP:0001276HP:0002191Progressive spasticity2ERCC5 CL E G H20731466ORPHA14913437133530
HP:0001276HP:0001264Spastic diplegia2ERCC5 CL E G H20731466ORPHA14913437133530
HP:0001276HP:0002464Spastic dysarthria2ERCC5 CL E G H20731466ORPHA14913437133530
HP:0001276HP:0002064Spastic gait2ERCC5 CL E G H20731466ORPHA14913437133530
HP:0001276HP:0011099Spastic hemiparesis2ERCC5 CL E G H20731466ORPHA14913437133530
HP:0001276HP:0001285Spastic tetraparesis2ERCC5 CL E G H20731466ORPHA14913437133530
HP:0001276HP:0002510Spastic tetraplegia2ERCC5 CL E G H20731466ORPHA14913437133530
HP:0001276HP:0002501Spasticity of pharyngeal muscles2ERCC5 CL E G H20731466ORPHA14913437133530
HP:0001276HP:0006986Upper limb spasticity2ERCC5 CL E G H20731466ORPHA14913437133530
HP:0001276HP:0002491Spasticity of facial muscles2ERCC6 CL E G H20741466ORPHA116453438609413
HP:0001276HP:0200049Upper limb hypertonia2ERCC6 CL E G H20741466ORPHA116453438609413
HP:0001276HP:0006895Lower limb hypertonia2ERCC6 CL E G H20741466ORPHA116453438609413
HP:0001276HP:0002396Cogwheel rigidity2ERCC6 CL E G H20741466ORPHA116453438609413
HP:0001276HP:0025013Decerebrate rigidity2ERCC6 CL E G H20741466ORPHA116453438609413
HP:0001276HP:0011444Decorticate rigidity2ERCC6 CL E G H20741466ORPHA116453438609413
HP:0001276HP:0007076Extrapyramidal muscular rigidity2ERCC6 CL E G H20741466ORPHA116453438609413
HP:0001276HP:0031866Clasp-knife sign2ERCC6 CL E G H20741466ORPHA116453438609413
HP:0001276HP:0002061Lower limb spasticity2ERCC6 CL E G H20741466ORPHA116453438609413
HP:0001276HP:0002179Opisthotonus2ERCC6 CL E G H20741466ORPHA116453438609413
HP:0001276HP:0002191Progressive spasticity2ERCC6 CL E G H20741466ORPHA116453438609413
HP:0001276HP:0001264Spastic diplegia2ERCC6 CL E G H20741466ORPHA116453438609413
HP:0001276HP:0002464Spastic dysarthria2ERCC6 CL E G H20741466ORPHA116453438609413
HP:0001276HP:0002064Spastic gait2ERCC6 CL E G H20741466ORPHA116453438609413
HP:0001276HP:0011099Spastic hemiparesis2ERCC6 CL E G H20741466ORPHA116453438609413
HP:0001276HP:0001285Spastic tetraparesis2ERCC6 CL E G H20741466ORPHA116453438609413
HP:0001276HP:0002510Spastic tetraplegia2ERCC6 CL E G H20741466ORPHA116453438609413
HP:0001276HP:0002501Spasticity of pharyngeal muscles2ERCC6 CL E G H20741466ORPHA116453438609413
HP:0001276HP:0006986Upper limb spasticity2ERCC6 CL E G H20741466ORPHA116453438609413
HP:0001276HP:0002491Spasticity of facial muscles2EYA1 CL E G H21382792Hyperbilirubinemia type 1ORPHA15133519601653
HP:0001276HP:0200049Upper limb hypertonia2EYA1 CL E G H21382792Hyperbilirubinemia type 1ORPHA15133519601653
HP:0001276HP:0006895Lower limb hypertonia2EYA1 CL E G H21382792Hyperbilirubinemia type 1ORPHA15133519601653
HP:0001276HP:0002396Cogwheel rigidity2EYA1 CL E G H21382792Hyperbilirubinemia type 1ORPHA15133519601653
HP:0001276HP:0025013Decerebrate rigidity2EYA1 CL E G H21382792Hyperbilirubinemia type 1ORPHA15133519601653
HP:0001276HP:0011444Decorticate rigidity2EYA1 CL E G H21382792Hyperbilirubinemia type 1ORPHA15133519601653
HP:0001276HP:0007076Extrapyramidal muscular rigidity2EYA1 CL E G H21382792Hyperbilirubinemia type 1ORPHA15133519601653
HP:0001276HP:0031866Clasp-knife sign2EYA1 CL E G H21382792Hyperbilirubinemia type 1ORPHA15133519601653
HP:0001276HP:0002061Lower limb spasticity2EYA1 CL E G H21382792Hyperbilirubinemia type 1ORPHA15133519601653
HP:0001276HP:0002179Opisthotonus2EYA1 CL E G H21382792Hyperbilirubinemia type 1ORPHA15133519601653
HP:0001276HP:0002191Progressive spasticity2EYA1 CL E G H21382792Hyperbilirubinemia type 1ORPHA15133519601653
HP:0001276HP:0001264Spastic diplegia2EYA1 CL E G H21382792Hyperbilirubinemia type 1ORPHA15133519601653
HP:0001276HP:0002464Spastic dysarthria2EYA1 CL E G H21382792Hyperbilirubinemia type 1ORPHA15133519601653
HP:0001276HP:0002064Spastic gait2EYA1 CL E G H21382792Hyperbilirubinemia type 1ORPHA15133519601653
HP:0001276HP:0011099Spastic hemiparesis2EYA1 CL E G H21382792Hyperbilirubinemia type 1ORPHA15133519601653
HP:0001276HP:0001285Spastic tetraparesis2EYA1 CL E G H21382792Hyperbilirubinemia type 1ORPHA15133519601653
HP:0001276HP:0002510Spastic tetraplegia2EYA1 CL E G H21382792Hyperbilirubinemia type 1ORPHA15133519601653
HP:0001276HP:0002501Spasticity of pharyngeal muscles2EYA1 CL E G H21382792Hyperbilirubinemia type 1ORPHA15133519601653
HP:0001276HP:0006986Upper limb spasticity2EYA1 CL E G H21382792Hyperbilirubinemia type 1ORPHA15133519601653
HP:0001276HP:0002491Spasticity of facial muscles2EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0001276HP:0200049Upper limb hypertonia2EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0001276HP:0006895Lower limb hypertonia2EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0001276HP:0002396Cogwheel rigidity2EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0001276HP:0025013Decerebrate rigidity2EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0001276HP:0011444Decorticate rigidity2EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0001276HP:0007076Extrapyramidal muscular rigidity2EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0001276HP:0031866Clasp-knife sign2EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0001276HP:0002061Lower limb spasticity2EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0001276HP:0002179Opisthotonus2EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0001276HP:0002191Progressive spasticity2EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0001276HP:0001264Spastic diplegia2EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0001276HP:0002464Spastic dysarthria2EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0001276HP:0002064Spastic gait2EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0001276HP:0011099Spastic hemiparesis2EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0001276HP:0001285Spastic tetraparesis2EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0001276HP:0002510Spastic tetraplegia2EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0001276HP:0002501Spasticity of pharyngeal muscles2EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0001276HP:0006986Upper limb spasticity2EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0001276HP:0002491Spasticity of facial muscles2FAN1 CL E G H22909144ORPHA148229170613534
HP:0001276HP:0200049Upper limb hypertonia2FAN1 CL E G H22909144ORPHA148229170613534
HP:0001276HP:0006895Lower limb hypertonia2FAN1 CL E G H22909144ORPHA148229170613534
HP:0001276HP:0002396Cogwheel rigidity2FAN1 CL E G H22909144ORPHA148229170613534
HP:0001276HP:0025013Decerebrate rigidity2FAN1 CL E G H22909144ORPHA148229170613534
HP:0001276HP:0011444Decorticate rigidity2FAN1 CL E G H22909144ORPHA148229170613534
HP:0001276HP:0007076Extrapyramidal muscular rigidity2FAN1 CL E G H22909144ORPHA148229170613534
HP:0001276HP:0031866Clasp-knife sign2FAN1 CL E G H22909144ORPHA148229170613534
HP:0001276HP:0002061Lower limb spasticity2FAN1 CL E G H22909144ORPHA148229170613534
HP:0001276HP:0002179Opisthotonus2FAN1 CL E G H22909144ORPHA148229170613534
HP:0001276HP:0002191Progressive spasticity2FAN1 CL E G H22909144ORPHA148229170613534
HP:0001276HP:0001264Spastic diplegia2FAN1 CL E G H22909144ORPHA148229170613534
HP:0001276HP:0002464Spastic dysarthria2FAN1 CL E G H22909144ORPHA148229170613534
HP:0001276HP:0002064Spastic gait2FAN1 CL E G H22909144ORPHA148229170613534
HP:0001276HP:0011099Spastic hemiparesis2FAN1 CL E G H22909144ORPHA148229170613534
HP:0001276HP:0001285Spastic tetraparesis2FAN1 CL E G H22909144ORPHA148229170613534
HP:0001276HP:0002510Spastic tetraplegia2FAN1 CL E G H22909144ORPHA148229170613534
HP:0001276HP:0002501Spasticity of pharyngeal muscles2FAN1 CL E G H22909144ORPHA148229170613534
HP:0001276HP:0006986Upper limb spasticity2FAN1 CL E G H22909144ORPHA148229170613534
HP:0001276HP:0002491Spasticity of facial muscles2FKRP CL E G H79147588ORPHA195017997606596
HP:0001276HP:0200049Upper limb hypertonia2FKRP CL E G H79147588ORPHA195017997606596
HP:0001276HP:0006895Lower limb hypertonia2FKRP CL E G H79147588ORPHA195017997606596
HP:0001276HP:0002396Cogwheel rigidity2FKRP CL E G H79147588ORPHA195017997606596
HP:0001276HP:0025013Decerebrate rigidity2FKRP CL E G H79147588ORPHA195017997606596
HP:0001276HP:0011444Decorticate rigidity2FKRP CL E G H79147588ORPHA195017997606596
HP:0001276HP:0007076Extrapyramidal muscular rigidity2FKRP CL E G H79147588ORPHA195017997606596
HP:0001276HP:0031866Clasp-knife sign2FKRP CL E G H79147588ORPHA195017997606596
HP:0001276HP:0002061Lower limb spasticity2FKRP CL E G H79147588ORPHA195017997606596
HP:0001276HP:0002179Opisthotonus2FKRP CL E G H79147588ORPHA195017997606596
HP:0001276HP:0002191Progressive spasticity2FKRP CL E G H79147588ORPHA195017997606596
HP:0001276HP:0001264Spastic diplegia2FKRP CL E G H79147588ORPHA195017997606596
HP:0001276HP:0002464Spastic dysarthria2FKRP CL E G H79147588ORPHA195017997606596
HP:0001276HP:0002064Spastic gait2FKRP CL E G H79147588ORPHA195017997606596
HP:0001276HP:0011099Spastic hemiparesis2FKRP CL E G H79147588ORPHA195017997606596
HP:0001276HP:0001285Spastic tetraparesis2FKRP CL E G H79147588ORPHA195017997606596
HP:0001276HP:0002510Spastic tetraplegia2FKRP CL E G H79147588ORPHA195017997606596
HP:0001276HP:0002501Spasticity of pharyngeal muscles2FKRP CL E G H79147588ORPHA195017997606596
HP:0001276HP:0006986Upper limb spasticity2FKRP CL E G H79147588ORPHA195017997606596
HP:0001276HP:0002491Spasticity of facial muscles2FKTN CL E G H2218588ORPHA19143622607440
HP:0001276HP:0200049Upper limb hypertonia2FKTN CL E G H2218588ORPHA19143622607440
HP:0001276HP:0006895Lower limb hypertonia2FKTN CL E G H2218588ORPHA19143622607440
HP:0001276HP:0002396Cogwheel rigidity2FKTN CL E G H2218588ORPHA19143622607440
HP:0001276HP:0025013Decerebrate rigidity2FKTN CL E G H2218588ORPHA19143622607440
HP:0001276HP:0011444Decorticate rigidity2FKTN CL E G H2218588ORPHA19143622607440
HP:0001276HP:0007076Extrapyramidal muscular rigidity2FKTN CL E G H2218588ORPHA19143622607440
HP:0001276HP:0031866Clasp-knife sign2FKTN CL E G H2218588ORPHA19143622607440
HP:0001276HP:0002061Lower limb spasticity2FKTN CL E G H2218588ORPHA19143622607440
HP:0001276HP:0002179Opisthotonus2FKTN CL E G H2218588ORPHA19143622607440
HP:0001276HP:0002191Progressive spasticity2FKTN CL E G H2218588ORPHA19143622607440
HP:0001276HP:0001264Spastic diplegia2FKTN CL E G H2218588ORPHA19143622607440
HP:0001276HP:0002464Spastic dysarthria2FKTN CL E G H2218588ORPHA19143622607440
HP:0001276HP:0002064Spastic gait2FKTN CL E G H2218588ORPHA19143622607440
HP:0001276HP:0011099Spastic hemiparesis2FKTN CL E G H2218588ORPHA19143622607440
HP:0001276HP:0001285Spastic tetraparesis2FKTN CL E G H2218588ORPHA19143622607440
HP:0001276HP:0002510Spastic tetraplegia2FKTN CL E G H2218588ORPHA19143622607440
HP:0001276HP:0002501Spasticity of pharyngeal muscles2FKTN CL E G H2218588ORPHA19143622607440
HP:0001276HP:0006986Upper limb spasticity2FKTN CL E G H2218588ORPHA19143622607440
HP:0001276HP:0002491Spasticity of facial muscles2FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM124324678610966
HP:0001276HP:0200049Upper limb hypertonia2FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM124324678610966
HP:0001276HP:0006895Lower limb hypertonia2FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM124324678610966
HP:0001276HP:0002396Cogwheel rigidity2FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM124324678610966
HP:0001276HP:0025013Decerebrate rigidity2FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM124324678610966
HP:0001276HP:0011444Decorticate rigidity2FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM124324678610966
HP:0001276HP:0007076Extrapyramidal muscular rigidity2FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM124324678610966
HP:0001276HP:0031866Clasp-knife sign2FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM124324678610966
HP:0001276HP:0002061Lower limb spasticity2FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM124324678610966
HP:0001276HP:0002179Opisthotonus2FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM124324678610966
HP:0001276HP:0002191Progressive spasticity2FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM124324678610966
HP:0001276HP:0001264Spastic diplegia2FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM124324678610966
HP:0001276HP:0002464Spastic dysarthria2FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM124324678610966
HP:0001276HP:0002064Spastic gait2FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM124324678610966
HP:0001276HP:0011099Spastic hemiparesis2FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM124324678610966
HP:0001276HP:0001285Spastic tetraparesis2FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM124324678610966
HP:0001276HP:0002510Spastic tetraplegia2FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM124324678610966
HP:0001276HP:0002501Spasticity of pharyngeal muscles2FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM124324678610966
HP:0001276HP:0006986Upper limb spasticity2FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM124324678610966
HP:0001276HP:0002491Spasticity of facial muscles2GALC CL E G H2581245200Galactosylceramide beta-galactosidase deficiency245200C0023521OMIM111854115606890
HP:0001276HP:0200049Upper limb hypertonia2GALC CL E G H2581245200Galactosylceramide beta-galactosidase deficiency245200C0023521OMIM111854115606890
HP:0001276HP:0006895Lower limb hypertonia2GALC CL E G H2581245200Galactosylceramide beta-galactosidase deficiency245200C0023521OMIM111854115606890
HP:0001276HP:0002396Cogwheel rigidity2GALC CL E G H2581245200Galactosylceramide beta-galactosidase deficiency245200C0023521OMIM111854115606890
HP:0001276HP:0025013Decerebrate rigidity2GALC CL E G H2581245200Galactosylceramide beta-galactosidase deficiency245200C0023521OMIM111854115606890
HP:0001276HP:0011444Decorticate rigidity2GALC CL E G H2581245200Galactosylceramide beta-galactosidase deficiency245200C0023521OMIM111854115606890
HP:0001276HP:0007076Extrapyramidal muscular rigidity2GALC CL E G H2581245200Galactosylceramide beta-galactosidase deficiency245200C0023521OMIM111854115606890
HP:0001276HP:0031866Clasp-knife sign2GALC CL E G H2581245200Galactosylceramide beta-galactosidase deficiency245200C0023521OMIM111854115606890
HP:0001276HP:0002061Lower limb spasticity2GALC CL E G H2581245200Galactosylceramide beta-galactosidase deficiency245200C0023521OMIM111854115606890
HP:0001276HP:0002179Opisthotonus2GALC CL E G H2581245200Galactosylceramide beta-galactosidase deficiency245200C0023521OMIM111854115606890
HP:0001276HP:0002191Progressive spasticity2GALC CL E G H2581245200Galactosylceramide beta-galactosidase deficiency245200C0023521OMIM111854115606890
HP:0001276HP:0001264Spastic diplegia2GALC CL E G H2581245200Galactosylceramide beta-galactosidase deficiency245200C0023521OMIM111854115606890
HP:0001276HP:0002464Spastic dysarthria2GALC CL E G H2581245200Galactosylceramide beta-galactosidase deficiency245200C0023521OMIM111854115606890
HP:0001276HP:0002064Spastic gait2GALC CL E G H2581245200Galactosylceramide beta-galactosidase deficiency245200C0023521OMIM111854115606890
HP:0001276HP:0011099Spastic hemiparesis2GALC CL E G H2581245200Galactosylceramide beta-galactosidase deficiency245200C0023521OMIM111854115606890
HP:0001276HP:0001285Spastic tetraparesis2GALC CL E G H2581245200Galactosylceramide beta-galactosidase deficiency245200C0023521OMIM111854115606890
HP:0001276HP:0002510Spastic tetraplegia2GALC CL E G H2581245200Galactosylceramide beta-galactosidase deficiency245200C0023521OMIM111854115606890
HP:0001276HP:0002501Spasticity of pharyngeal muscles2GALC CL E G H2581245200Galactosylceramide beta-galactosidase deficiency245200C0023521OMIM111854115606890
HP:0001276HP:0006986Upper limb spasticity2GALC CL E G H2581245200Galactosylceramide beta-galactosidase deficiency245200C0023521OMIM111854115606890
HP:0001276HP:0002491Spasticity of facial muscles2GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM15884136601240
HP:0001276HP:0200049Upper limb hypertonia2GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM15884136601240
HP:0001276HP:0006895Lower limb hypertonia2GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM15884136601240
HP:0001276HP:0002396Cogwheel rigidity2GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM15884136601240
HP:0001276HP:0025013Decerebrate rigidity2GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM15884136601240
HP:0001276HP:0011444Decorticate rigidity2GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM15884136601240
HP:0001276HP:0007076Extrapyramidal muscular rigidity2GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM15884136601240
HP:0001276HP:0031866Clasp-knife sign2GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM15884136601240
HP:0001276HP:0002061Lower limb spasticity2GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM15884136601240
HP:0001276HP:0002179Opisthotonus2GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM15884136601240
HP:0001276HP:0002191Progressive spasticity2GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM15884136601240
HP:0001276HP:0001264Spastic diplegia2GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM15884136601240
HP:0001276HP:0002464Spastic dysarthria2GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM15884136601240
HP:0001276HP:0002064Spastic gait2GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM15884136601240
HP:0001276HP:0011099Spastic hemiparesis2GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM15884136601240
HP:0001276HP:0001285Spastic tetraparesis2GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM15884136601240
HP:0001276HP:0002510Spastic tetraplegia2GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM15884136601240
HP:0001276HP:0002501Spasticity of pharyngeal muscles2GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM15884136601240
HP:0001276HP:0006986Upper limb spasticity2GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM15884136601240
HP:0001276HP:0002491Spasticity of facial muscles2GBA CL E G H26292072ORPHA14177606463
HP:0001276HP:0200049Upper limb hypertonia2GBA CL E G H26292072ORPHA14177606463
HP:0001276HP:0006895Lower limb hypertonia2GBA CL E G H26292072ORPHA14177606463
HP:0001276HP:0002396Cogwheel rigidity2GBA CL E G H26292072ORPHA14177606463
HP:0001276HP:0025013Decerebrate rigidity2GBA CL E G H26292072ORPHA14177606463
HP:0001276HP:0011444Decorticate rigidity2GBA CL E G H26292072ORPHA14177606463
HP:0001276HP:0007076Extrapyramidal muscular rigidity2GBA CL E G H26292072ORPHA14177606463
HP:0001276HP:0031866Clasp-knife sign2GBA CL E G H26292072ORPHA14177606463
HP:0001276HP:0002061Lower limb spasticity2GBA CL E G H26292072ORPHA14177606463
HP:0001276HP:0002179Opisthotonus2GBA CL E G H26292072ORPHA14177606463
HP:0001276HP:0002191Progressive spasticity2GBA CL E G H26292072ORPHA14177606463
HP:0001276HP:0001264Spastic diplegia2GBA CL E G H26292072ORPHA14177606463
HP:0001276HP:0002464Spastic dysarthria2GBA CL E G H26292072ORPHA14177606463
HP:0001276HP:0002064Spastic gait2GBA CL E G H26292072ORPHA14177606463
HP:0001276HP:0011099Spastic hemiparesis2GBA CL E G H26292072ORPHA14177606463
HP:0001276HP:0001285Spastic tetraparesis2GBA CL E G H26292072ORPHA14177606463
HP:0001276HP:0002510Spastic tetraplegia2GBA CL E G H26292072ORPHA14177606463
HP:0001276HP:0002501Spasticity of pharyngeal muscles2GBA CL E G H26292072ORPHA14177606463
HP:0001276HP:0006986Upper limb spasticity2GBA CL E G H26292072ORPHA14177606463
HP:0001276HP:0002491Spasticity of facial muscles2GBA CL E G H262985212ORPHA14177606463
HP:0001276HP:0200049Upper limb hypertonia2GBA CL E G H262985212ORPHA14177606463
HP:0001276HP:0006895Lower limb hypertonia2GBA CL E G H262985212ORPHA14177606463
HP:0001276HP:0002396Cogwheel rigidity2GBA CL E G H262985212ORPHA14177606463
HP:0001276HP:0025013Decerebrate rigidity2GBA CL E G H262985212ORPHA14177606463
HP:0001276HP:0011444Decorticate rigidity2GBA CL E G H262985212ORPHA14177606463
HP:0001276HP:0007076Extrapyramidal muscular rigidity2GBA CL E G H262985212ORPHA14177606463
HP:0001276HP:0031866Clasp-knife sign2GBA CL E G H262985212ORPHA14177606463
HP:0001276HP:0002061Lower limb spasticity2GBA CL E G H262985212ORPHA14177606463
HP:0001276HP:0002179Opisthotonus2GBA CL E G H262985212ORPHA14177606463
HP:0001276HP:0002191Progressive spasticity2GBA CL E G H262985212ORPHA14177606463
HP:0001276HP:0001264Spastic diplegia2GBA CL E G H262985212ORPHA14177606463
HP:0001276HP:0002464Spastic dysarthria2GBA CL E G H262985212ORPHA14177606463
HP:0001276HP:0002064Spastic gait2GBA CL E G H262985212ORPHA14177606463
HP:0001276HP:0011099Spastic hemiparesis2GBA CL E G H262985212ORPHA14177606463
HP:0001276HP:0001285Spastic tetraparesis2GBA CL E G H262985212ORPHA14177606463
HP:0001276HP:0002510Spastic tetraplegia2GBA CL E G H262985212ORPHA14177606463
HP:0001276HP:0002501Spasticity of pharyngeal muscles2GBA CL E G H262985212ORPHA14177606463
HP:0001276HP:0006986Upper limb spasticity2GBA CL E G H262985212ORPHA14177606463
HP:0001276HP:0002491Spasticity of facial muscles2GLRA1 CL E G H2741149400Hyperekplexia hereditary149400C1835614OMIM14474326138491
HP:0001276HP:0200049Upper limb hypertonia2GLRA1 CL E G H2741149400Hyperekplexia hereditary149400C1835614OMIM14474326138491
HP:0001276HP:0006895Lower limb hypertonia2GLRA1 CL E G H2741149400Hyperekplexia hereditary149400C1835614OMIM14474326138491
HP:0001276HP:0002396Cogwheel rigidity2GLRA1 CL E G H2741149400Hyperekplexia hereditary149400C1835614OMIM14474326138491
HP:0001276HP:0025013Decerebrate rigidity2GLRA1 CL E G H2741149400Hyperekplexia hereditary149400C1835614OMIM14474326138491
HP:0001276HP:0011444Decorticate rigidity2GLRA1 CL E G H2741149400Hyperekplexia hereditary149400C1835614OMIM14474326138491
HP:0001276HP:0007076Extrapyramidal muscular rigidity2GLRA1 CL E G H2741149400Hyperekplexia hereditary149400C1835614OMIM14474326138491
HP:0001276HP:0031866Clasp-knife sign2GLRA1 CL E G H2741149400Hyperekplexia hereditary149400C1835614OMIM14474326138491
HP:0001276HP:0002061Lower limb spasticity2GLRA1 CL E G H2741149400Hyperekplexia hereditary149400C1835614OMIM14474326138491
HP:0001276HP:0002179Opisthotonus2GLRA1 CL E G H2741149400Hyperekplexia hereditary149400C1835614OMIM14474326138491
HP:0001276HP:0002191Progressive spasticity2GLRA1 CL E G H2741149400Hyperekplexia hereditary149400C1835614OMIM14474326138491
HP:0001276HP:0001264Spastic diplegia2GLRA1 CL E G H2741149400Hyperekplexia hereditary149400C1835614OMIM14474326138491
HP:0001276HP:0002464Spastic dysarthria2GLRA1 CL E G H2741149400Hyperekplexia hereditary149400C1835614OMIM14474326138491
HP:0001276HP:0002064Spastic gait2GLRA1 CL E G H2741149400Hyperekplexia hereditary149400C1835614OMIM14474326138491
HP:0001276HP:0011099Spastic hemiparesis2GLRA1 CL E G H2741149400Hyperekplexia hereditary149400C1835614OMIM14474326138491
HP:0001276HP:0001285Spastic tetraparesis2GLRA1 CL E G H2741149400Hyperekplexia hereditary149400C1835614OMIM14474326138491
HP:0001276HP:0002510Spastic tetraplegia2GLRA1 CL E G H2741149400Hyperekplexia hereditary149400C1835614OMIM14474326138491
HP:0001276HP:0002501Spasticity of pharyngeal muscles2GLRA1 CL E G H2741149400Hyperekplexia hereditary149400C1835614OMIM14474326138491
HP:0001276HP:0006986Upper limb spasticity2GLRA1 CL E G H2741149400Hyperekplexia hereditary149400C1835614OMIM14474326138491
HP:0001276HP:0002491Spasticity of facial muscles2GLRB CL E G H2743614619Hyperekplexia 2614619C3553291OMIM13794329138492
HP:0001276HP:0200049Upper limb hypertonia2GLRB CL E G H2743614619Hyperekplexia 2614619C3553291OMIM13794329138492
HP:0001276HP:0006895Lower limb hypertonia2GLRB CL E G H2743614619Hyperekplexia 2614619C3553291OMIM13794329138492
HP:0001276HP:0002396Cogwheel rigidity2GLRB CL E G H2743614619Hyperekplexia 2614619C3553291OMIM13794329138492
HP:0001276HP:0025013Decerebrate rigidity2GLRB CL E G H2743614619Hyperekplexia 2614619C3553291OMIM13794329138492
HP:0001276HP:0011444Decorticate rigidity2GLRB CL E G H2743614619Hyperekplexia 2614619C3553291OMIM13794329138492
HP:0001276HP:0007076Extrapyramidal muscular rigidity2GLRB CL E G H2743614619Hyperekplexia 2614619C3553291OMIM13794329138492
HP:0001276HP:0031866Clasp-knife sign2GLRB CL E G H2743614619Hyperekplexia 2614619C3553291OMIM13794329138492
HP:0001276HP:0002061Lower limb spasticity2GLRB CL E G H2743614619Hyperekplexia 2614619C3553291OMIM13794329138492
HP:0001276HP:0002179Opisthotonus2GLRB CL E G H2743614619Hyperekplexia 2614619C3553291OMIM13794329138492
HP:0001276HP:0002191Progressive spasticity2GLRB CL E G H2743614619Hyperekplexia 2614619C3553291OMIM13794329138492
HP:0001276HP:0001264Spastic diplegia2GLRB CL E G H2743614619Hyperekplexia 2614619C3553291OMIM13794329138492
HP:0001276HP:0002464Spastic dysarthria2GLRB CL E G H2743614619Hyperekplexia 2614619C3553291OMIM13794329138492
HP:0001276HP:0002064Spastic gait2GLRB CL E G H2743614619Hyperekplexia 2614619C3553291OMIM13794329138492
HP:0001276HP:0011099Spastic hemiparesis2GLRB CL E G H2743614619Hyperekplexia 2614619C3553291OMIM13794329138492
HP:0001276HP:0001285Spastic tetraparesis2GLRB CL E G H2743614619Hyperekplexia 2614619C3553291OMIM13794329138492
HP:0001276HP:0002510Spastic tetraplegia2GLRB CL E G H2743614619Hyperekplexia 2614619C3553291OMIM13794329138492
HP:0001276HP:0002501Spasticity of pharyngeal muscles2GLRB CL E G H2743614619Hyperekplexia 2614619C3553291OMIM13794329138492
HP:0001276HP:0006986Upper limb spasticity2GLRB CL E G H2743614619Hyperekplexia 2614619C3553291OMIM13794329138492
HP:0001276HP:0002491Spasticity of facial muscles2GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001276HP:0200049Upper limb hypertonia2GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001276HP:0006895Lower limb hypertonia2GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001276HP:0002396Cogwheel rigidity2GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001276HP:0025013Decerebrate rigidity2GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001276HP:0011444Decorticate rigidity2GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001276HP:0007076Extrapyramidal muscular rigidity2GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001276HP:0031866Clasp-knife sign2GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001276HP:0002061Lower limb spasticity2GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001276HP:0002179Opisthotonus2GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001276HP:0002191Progressive spasticity2GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001276HP:0001264Spastic diplegia2GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001276HP:0002464Spastic dysarthria2GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001276HP:0002064Spastic gait2GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001276HP:0011099Spastic hemiparesis2GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001276HP:0001285Spastic tetraparesis2GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001276HP:0002510Spastic tetraplegia2GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001276HP:0002501Spasticity of pharyngeal muscles2GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001276HP:0006986Upper limb spasticity2GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001276HP:0002491Spasticity of facial muscles2GMPPB CL E G H29925588ORPHA136422932615320
HP:0001276HP:0200049Upper limb hypertonia2GMPPB CL E G H29925588ORPHA136422932615320
HP:0001276HP:0006895Lower limb hypertonia2GMPPB CL E G H29925588ORPHA136422932615320
HP:0001276HP:0002396Cogwheel rigidity2GMPPB CL E G H29925588ORPHA136422932615320
HP:0001276HP:0025013Decerebrate rigidity2GMPPB CL E G H29925588ORPHA136422932615320
HP:0001276HP:0011444Decorticate rigidity2GMPPB CL E G H29925588ORPHA136422932615320
HP:0001276HP:0007076Extrapyramidal muscular rigidity2GMPPB CL E G H29925588ORPHA136422932615320
HP:0001276HP:0031866Clasp-knife sign2GMPPB CL E G H29925588ORPHA136422932615320
HP:0001276HP:0002061Lower limb spasticity2GMPPB CL E G H29925588ORPHA136422932615320
HP:0001276HP:0002179Opisthotonus2GMPPB CL E G H29925588ORPHA136422932615320
HP:0001276HP:0002191Progressive spasticity2GMPPB CL E G H29925588ORPHA136422932615320
HP:0001276HP:0001264Spastic diplegia2GMPPB CL E G H29925588ORPHA136422932615320
HP:0001276HP:0002464Spastic dysarthria2GMPPB CL E G H29925588ORPHA136422932615320
HP:0001276HP:0002064Spastic gait2GMPPB CL E G H29925588ORPHA136422932615320
HP:0001276HP:0011099Spastic hemiparesis2GMPPB CL E G H29925588ORPHA136422932615320
HP:0001276HP:0001285Spastic tetraparesis2GMPPB CL E G H29925588ORPHA136422932615320
HP:0001276HP:0002510Spastic tetraplegia2GMPPB CL E G H29925588ORPHA136422932615320
HP:0001276HP:0002501Spasticity of pharyngeal muscles2GMPPB CL E G H29925588ORPHA136422932615320
HP:0001276HP:0006986Upper limb spasticity2GMPPB CL E G H29925588ORPHA136422932615320
HP:0001276HP:0002491Spasticity of facial muscles2GMPPB CL E G H29925615351Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14615351C3809221OMIM136422932615320
HP:0001276HP:0200049Upper limb hypertonia2GMPPB CL E G H29925615351Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14615351C3809221OMIM136422932615320
HP:0001276HP:0006895Lower limb hypertonia2GMPPB CL E G H29925615351Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14615351C3809221OMIM136422932615320
HP:0001276HP:0002396Cogwheel rigidity2GMPPB CL E G H29925615351Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14615351C3809221OMIM136422932615320
HP:0001276HP:0025013Decerebrate rigidity2GMPPB CL E G H29925615351Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14615351C3809221OMIM136422932615320
HP:0001276HP:0011444Decorticate rigidity2GMPPB CL E G H29925615351Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14615351C3809221OMIM136422932615320
HP:0001276HP:0007076Extrapyramidal muscular rigidity2GMPPB CL E G H29925615351Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14615351C3809221OMIM136422932615320
HP:0001276HP:0031866Clasp-knife sign2GMPPB CL E G H29925615351Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14615351C3809221OMIM136422932615320
HP:0001276HP:0002061Lower limb spasticity2GMPPB CL E G H29925615351Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14615351C3809221OMIM136422932615320
HP:0001276HP:0002179Opisthotonus2GMPPB CL E G H29925615351Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14615351C3809221OMIM136422932615320
HP:0001276HP:0002191Progressive spasticity2GMPPB CL E G H29925615351Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14615351C3809221OMIM136422932615320
HP:0001276HP:0001264Spastic diplegia2GMPPB CL E G H29925615351Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14615351C3809221OMIM136422932615320
HP:0001276HP:0002464Spastic dysarthria2GMPPB CL E G H29925615351Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14615351C3809221OMIM136422932615320
HP:0001276HP:0002064Spastic gait2GMPPB CL E G H29925615351Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14615351C3809221OMIM136422932615320
HP:0001276HP:0011099Spastic hemiparesis2GMPPB CL E G H29925615351Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14615351C3809221OMIM136422932615320
HP:0001276HP:0001285Spastic tetraparesis2GMPPB CL E G H29925615351Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14615351C3809221OMIM136422932615320
HP:0001276HP:0002510Spastic tetraplegia2GMPPB CL E G H29925615351Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14615351C3809221OMIM136422932615320
HP:0001276HP:0002501Spasticity of pharyngeal muscles2GMPPB CL E G H29925615351Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14615351C3809221OMIM136422932615320
HP:0001276HP:0006986Upper limb spasticity2GMPPB CL E G H29925615351Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14615351C3809221OMIM136422932615320
HP:0001276HP:0002491Spasticity of facial muscles2GPHN CL E G H10243149400Hyperekplexia hereditary149400C1835614OMIM1147315465603930
HP:0001276HP:0200049Upper limb hypertonia2GPHN CL E G H10243149400Hyperekplexia hereditary149400C1835614OMIM1147315465603930
HP:0001276HP:0006895Lower limb hypertonia2GPHN CL E G H10243149400Hyperekplexia hereditary149400C1835614OMIM1147315465603930
HP:0001276HP:0002396Cogwheel rigidity2GPHN CL E G H10243149400Hyperekplexia hereditary149400C1835614OMIM1147315465603930
HP:0001276HP:0025013Decerebrate rigidity2GPHN CL E G H10243149400Hyperekplexia hereditary149400C1835614OMIM1147315465603930
HP:0001276HP:0011444Decorticate rigidity2GPHN CL E G H10243149400Hyperekplexia hereditary149400C1835614OMIM1147315465603930
HP:0001276HP:0007076Extrapyramidal muscular rigidity2GPHN CL E G H10243149400Hyperekplexia hereditary149400C1835614OMIM1147315465603930
HP:0001276HP:0031866Clasp-knife sign2GPHN CL E G H10243149400Hyperekplexia hereditary149400C1835614OMIM1147315465603930
HP:0001276HP:0002061Lower limb spasticity2GPHN CL E G H10243149400Hyperekplexia hereditary149400C1835614OMIM1147315465603930
HP:0001276HP:0002179Opisthotonus2GPHN CL E G H10243149400Hyperekplexia hereditary149400C1835614OMIM1147315465603930
HP:0001276HP:0002191Progressive spasticity2GPHN CL E G H10243149400Hyperekplexia hereditary149400C1835614OMIM1147315465603930
HP:0001276HP:0001264Spastic diplegia2GPHN CL E G H10243149400Hyperekplexia hereditary149400C1835614OMIM1147315465603930
HP:0001276HP:0002464Spastic dysarthria2GPHN CL E G H10243149400Hyperekplexia hereditary149400C1835614OMIM1147315465603930
HP:0001276HP:0002064Spastic gait2GPHN CL E G H10243149400Hyperekplexia hereditary149400C1835614OMIM1147315465603930
HP:0001276HP:0011099Spastic hemiparesis2GPHN CL E G H10243149400Hyperekplexia hereditary149400C1835614OMIM1147315465603930
HP:0001276HP:0001285Spastic tetraparesis2GPHN CL E G H10243149400Hyperekplexia hereditary149400C1835614OMIM1147315465603930
HP:0001276HP:0002510Spastic tetraplegia2GPHN CL E G H10243149400Hyperekplexia hereditary149400C1835614OMIM1147315465603930
HP:0001276HP:0002501Spasticity of pharyngeal muscles2GPHN CL E G H10243149400Hyperekplexia hereditary149400C1835614OMIM1147315465603930
HP:0001276HP:0006986Upper limb spasticity2GPHN CL E G H10243149400Hyperekplexia hereditary149400C1835614OMIM1147315465603930
HP:0001276HP:0002491Spasticity of facial muscles2GRIN2D CL E G H2906617162Epileptic encephalopathy, early infantile, 46617162C4310687OMIM18234588602717
HP:0001276HP:0200049Upper limb hypertonia2GRIN2D CL E G H2906617162Epileptic encephalopathy, early infantile, 46617162C4310687OMIM18234588602717
HP:0001276HP:0006895Lower limb hypertonia2GRIN2D CL E G H2906617162Epileptic encephalopathy, early infantile, 46617162C4310687OMIM18234588602717
HP:0001276HP:0002396Cogwheel rigidity2GRIN2D CL E G H2906617162Epileptic encephalopathy, early infantile, 46617162C4310687OMIM18234588602717
HP:0001276HP:0025013Decerebrate rigidity2GRIN2D CL E G H2906617162Epileptic encephalopathy, early infantile, 46617162C4310687OMIM18234588602717
HP:0001276HP:0011444Decorticate rigidity2GRIN2D CL E G H2906617162Epileptic encephalopathy, early infantile, 46617162C4310687OMIM18234588602717
HP:0001276HP:0007076Extrapyramidal muscular rigidity2GRIN2D CL E G H2906617162Epileptic encephalopathy, early infantile, 46617162C4310687OMIM18234588602717
HP:0001276HP:0031866Clasp-knife sign2GRIN2D CL E G H2906617162Epileptic encephalopathy, early infantile, 46617162C4310687OMIM18234588602717
HP:0001276HP:0002061Lower limb spasticity2GRIN2D CL E G H2906617162Epileptic encephalopathy, early infantile, 46617162C4310687OMIM18234588602717
HP:0001276HP:0002179Opisthotonus2GRIN2D CL E G H2906617162Epileptic encephalopathy, early infantile, 46617162C4310687OMIM18234588602717
HP:0001276HP:0002191Progressive spasticity2GRIN2D CL E G H2906617162Epileptic encephalopathy, early infantile, 46617162C4310687OMIM18234588602717
HP:0001276HP:0001264Spastic diplegia2GRIN2D CL E G H2906617162Epileptic encephalopathy, early infantile, 46617162C4310687OMIM18234588602717
HP:0001276HP:0002464Spastic dysarthria2GRIN2D CL E G H2906617162Epileptic encephalopathy, early infantile, 46617162C4310687OMIM18234588602717
HP:0001276HP:0002064Spastic gait2GRIN2D CL E G H2906617162Epileptic encephalopathy, early infantile, 46617162C4310687OMIM18234588602717
HP:0001276HP:0011099Spastic hemiparesis2GRIN2D CL E G H2906617162Epileptic encephalopathy, early infantile, 46617162C4310687OMIM18234588602717
HP:0001276HP:0001285Spastic tetraparesis2GRIN2D CL E G H2906617162Epileptic encephalopathy, early infantile, 46617162C4310687OMIM18234588602717
HP:0001276HP:0002510Spastic tetraplegia2GRIN2D CL E G H2906617162Epileptic encephalopathy, early infantile, 46617162C4310687OMIM18234588602717
HP:0001276HP:0002501Spasticity of pharyngeal muscles2GRIN2D CL E G H2906617162Epileptic encephalopathy, early infantile, 46617162C4310687OMIM18234588602717
HP:0001276HP:0006986Upper limb spasticity2GRIN2D CL E G H2906617162Epileptic encephalopathy, early infantile, 46617162C4310687OMIM18234588602717
HP:0001276HP:0002491Spasticity of facial muscles2HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA138113315300269
HP:0001276HP:0200049Upper limb hypertonia2HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA138113315300269
HP:0001276HP:0006895Lower limb hypertonia2HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA138113315300269
HP:0001276HP:0002396Cogwheel rigidity2HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA138113315300269
HP:0001276HP:0025013Decerebrate rigidity2HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA138113315300269
HP:0001276HP:0011444Decorticate rigidity2HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA138113315300269
HP:0001276HP:0007076Extrapyramidal muscular rigidity2HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA138113315300269
HP:0001276HP:0031866Clasp-knife sign2HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA138113315300269
HP:0001276HP:0002061Lower limb spasticity2HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA138113315300269
HP:0001276HP:0002179Opisthotonus2HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA138113315300269
HP:0001276HP:0002191Progressive spasticity2HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA138113315300269
HP:0001276HP:0001264Spastic diplegia2HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA138113315300269
HP:0001276HP:0002464Spastic dysarthria2HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA138113315300269
HP:0001276HP:0002064Spastic gait2HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA138113315300269
HP:0001276HP:0011099Spastic hemiparesis2HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA138113315300269
HP:0001276HP:0001285Spastic tetraparesis2HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA138113315300269
HP:0001276HP:0002510Spastic tetraplegia2HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA138113315300269
HP:0001276HP:0002501Spasticity of pharyngeal muscles2HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA138113315300269
HP:0001276HP:0006986Upper limb spasticity2HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA138113315300269
HP:0001276HP:0002491Spasticity of facial muscles2HEXA CL E G H3073272800Tay-Sachs disease272800C0039373OMIM110024878606869
HP:0001276HP:0200049Upper limb hypertonia2HEXA CL E G H3073272800Tay-Sachs disease272800C0039373OMIM110024878606869
HP:0001276HP:0006895Lower limb hypertonia2HEXA CL E G H3073272800Tay-Sachs disease272800C0039373OMIM110024878606869
HP:0001276HP:0002396Cogwheel rigidity2HEXA CL E G H3073272800Tay-Sachs disease272800C0039373OMIM110024878606869
HP:0001276HP:0025013Decerebrate rigidity2HEXA CL E G H3073272800Tay-Sachs disease272800C0039373OMIM110024878606869
HP:0001276HP:0011444Decorticate rigidity2HEXA CL E G H3073272800Tay-Sachs disease272800C0039373OMIM110024878606869
HP:0001276HP:0007076Extrapyramidal muscular rigidity2HEXA CL E G H3073272800Tay-Sachs disease272800C0039373OMIM110024878606869
HP:0001276HP:0031866Clasp-knife sign2HEXA CL E G H3073272800Tay-Sachs disease272800C0039373OMIM110024878606869
HP:0001276HP:0002061Lower limb spasticity2HEXA CL E G H3073272800Tay-Sachs disease272800C0039373OMIM110024878606869
HP:0001276HP:0002179Opisthotonus2HEXA CL E G H3073272800Tay-Sachs disease272800C0039373OMIM110024878606869
HP:0001276HP:0002191Progressive spasticity2HEXA CL E G H3073272800Tay-Sachs disease272800C0039373OMIM110024878606869
HP:0001276HP:0001264Spastic diplegia2HEXA CL E G H3073272800Tay-Sachs disease272800C0039373OMIM110024878606869
HP:0001276HP:0002464Spastic dysarthria2HEXA CL E G H3073272800Tay-Sachs disease272800C0039373OMIM110024878606869
HP:0001276HP:0002064Spastic gait2HEXA CL E G H3073272800Tay-Sachs disease272800C0039373OMIM110024878606869
HP:0001276HP:0011099Spastic hemiparesis2HEXA CL E G H3073272800Tay-Sachs disease272800C0039373OMIM110024878606869
HP:0001276HP:0001285Spastic tetraparesis2HEXA CL E G H3073272800Tay-Sachs disease272800C0039373OMIM110024878606869
HP:0001276HP:0002510Spastic tetraplegia2HEXA CL E G H3073272800Tay-Sachs disease272800C0039373OMIM110024878606869
HP:0001276HP:0002501Spasticity of pharyngeal muscles2HEXA CL E G H3073272800Tay-Sachs disease272800C0039373OMIM110024878606869
HP:0001276HP:0006986Upper limb spasticity2HEXA CL E G H3073272800Tay-Sachs disease272800C0039373OMIM110024878606869
HP:0001276HP:0002491Spasticity of facial muscles2HIST1H1E CL E G H3008617537RAHMAN SYNDROME617537C4479637OMIM14718142220
HP:0001276HP:0200049Upper limb hypertonia2HIST1H1E CL E G H3008617537RAHMAN SYNDROME617537C4479637OMIM14718142220
HP:0001276HP:0006895Lower limb hypertonia2HIST1H1E CL E G H3008617537RAHMAN SYNDROME617537C4479637OMIM14718142220
HP:0001276HP:0002396Cogwheel rigidity2HIST1H1E CL E G H3008617537RAHMAN SYNDROME617537C4479637OMIM14718142220
HP:0001276HP:0025013Decerebrate rigidity2HIST1H1E CL E G H3008617537RAHMAN SYNDROME617537C4479637OMIM14718142220
HP:0001276HP:0011444Decorticate rigidity2HIST1H1E CL E G H3008617537RAHMAN SYNDROME617537C4479637OMIM14718142220
HP:0001276HP:0007076Extrapyramidal muscular rigidity2HIST1H1E CL E G H3008617537RAHMAN SYNDROME617537C4479637OMIM14718142220
HP:0001276HP:0031866Clasp-knife sign2HIST1H1E CL E G H3008617537RAHMAN SYNDROME617537C4479637OMIM14718142220
HP:0001276HP:0002061Lower limb spasticity2HIST1H1E CL E G H3008617537RAHMAN SYNDROME617537C4479637OMIM14718142220
HP:0001276HP:0002179Opisthotonus2HIST1H1E CL E G H3008617537RAHMAN SYNDROME617537C4479637OMIM14718142220
HP:0001276HP:0002191Progressive spasticity2HIST1H1E CL E G H3008617537RAHMAN SYNDROME617537C4479637OMIM14718142220
HP:0001276HP:0001264Spastic diplegia2HIST1H1E CL E G H3008617537RAHMAN SYNDROME617537C4479637OMIM14718142220
HP:0001276HP:0002464Spastic dysarthria2HIST1H1E CL E G H3008617537RAHMAN SYNDROME617537C4479637OMIM14718142220
HP:0001276HP:0002064Spastic gait2HIST1H1E CL E G H3008617537RAHMAN SYNDROME617537C4479637OMIM14718142220
HP:0001276HP:0011099Spastic hemiparesis2HIST1H1E CL E G H3008617537RAHMAN SYNDROME617537C4479637OMIM14718142220
HP:0001276HP:0001285Spastic tetraparesis2HIST1H1E CL E G H3008617537RAHMAN SYNDROME617537C4479637OMIM14718142220
HP:0001276HP:0002510Spastic tetraplegia2HIST1H1E CL E G H3008617537RAHMAN SYNDROME617537C4479637OMIM14718142220
HP:0001276HP:0002501Spasticity of pharyngeal muscles2HIST1H1E CL E G H3008617537RAHMAN SYNDROME617537C4479637OMIM14718142220
HP:0001276HP:0006986Upper limb spasticity2HIST1H1E CL E G H3008617537RAHMAN SYNDROME617537C4479637OMIM14718142220
HP:0001276HP:0002491Spasticity of facial muscles2HLCS CL E G H3141253270Holocarboxylase synthetase deficiency253270C0268581OMIM18854976609018
HP:0001276HP:0200049Upper limb hypertonia2HLCS CL E G H3141253270Holocarboxylase synthetase deficiency253270C0268581OMIM18854976609018
HP:0001276HP:0006895Lower limb hypertonia2HLCS CL E G H3141253270Holocarboxylase synthetase deficiency253270C0268581OMIM18854976609018
HP:0001276HP:0002396Cogwheel rigidity2HLCS CL E G H3141253270Holocarboxylase synthetase deficiency253270C0268581OMIM18854976609018
HP:0001276HP:0025013Decerebrate rigidity2HLCS CL E G H3141253270Holocarboxylase synthetase deficiency253270C0268581OMIM18854976609018
HP:0001276HP:0011444Decorticate rigidity2HLCS CL E G H3141253270Holocarboxylase synthetase deficiency253270C0268581OMIM18854976609018
HP:0001276HP:0007076Extrapyramidal muscular rigidity2HLCS CL E G H3141253270Holocarboxylase synthetase deficiency253270C0268581OMIM18854976609018
HP:0001276HP:0031866Clasp-knife sign2HLCS CL E G H3141253270Holocarboxylase synthetase deficiency253270C0268581OMIM18854976609018
HP:0001276HP:0002061Lower limb spasticity2HLCS CL E G H3141253270Holocarboxylase synthetase deficiency253270C0268581OMIM18854976609018
HP:0001276HP:0002179Opisthotonus2HLCS CL E G H3141253270Holocarboxylase synthetase deficiency253270C0268581OMIM18854976609018
HP:0001276HP:0002191Progressive spasticity2HLCS CL E G H3141253270Holocarboxylase synthetase deficiency253270C0268581OMIM18854976609018
HP:0001276HP:0001264Spastic diplegia2HLCS CL E G H3141253270Holocarboxylase synthetase deficiency253270C0268581OMIM18854976609018
HP:0001276HP:0002464Spastic dysarthria2HLCS CL E G H3141253270Holocarboxylase synthetase deficiency253270C0268581OMIM18854976609018
HP:0001276HP:0002064Spastic gait2HLCS CL E G H3141253270Holocarboxylase synthetase deficiency253270C0268581OMIM18854976609018
HP:0001276HP:0011099Spastic hemiparesis2HLCS CL E G H3141253270Holocarboxylase synthetase deficiency253270C0268581OMIM18854976609018
HP:0001276HP:0001285Spastic tetraparesis2HLCS CL E G H3141253270Holocarboxylase synthetase deficiency253270C0268581OMIM18854976609018
HP:0001276HP:0002510Spastic tetraplegia2HLCS CL E G H3141253270Holocarboxylase synthetase deficiency253270C0268581OMIM18854976609018
HP:0001276HP:0002501Spasticity of pharyngeal muscles2HLCS CL E G H3141253270Holocarboxylase synthetase deficiency253270C0268581OMIM18854976609018
HP:0001276HP:0006986Upper limb spasticity2HLCS CL E G H3141253270Holocarboxylase synthetase deficiency253270C0268581OMIM18854976609018
HP:0001276HP:0002491Spasticity of facial muscles2HNRNPH2 CL E G H3188300986Mental retardation, X-linked, syndromic, Bain type300986C4310814OMIM11965042300610
HP:0001276HP:0200049Upper limb hypertonia2HNRNPH2 CL E G H3188300986Mental retardation, X-linked, syndromic, Bain type300986C4310814OMIM11965042300610
HP:0001276HP:0006895Lower limb hypertonia2HNRNPH2 CL E G H3188300986Mental retardation, X-linked, syndromic, Bain type300986C4310814OMIM11965042300610
HP:0001276HP:0002396Cogwheel rigidity2HNRNPH2 CL E G H3188300986Mental retardation, X-linked, syndromic, Bain type300986C4310814OMIM11965042300610
HP:0001276HP:0025013Decerebrate rigidity2HNRNPH2 CL E G H3188300986Mental retardation, X-linked, syndromic, Bain type300986C4310814OMIM11965042300610
HP:0001276HP:0011444Decorticate rigidity2HNRNPH2 CL E G H3188300986Mental retardation, X-linked, syndromic, Bain type300986C4310814OMIM11965042300610
HP:0001276HP:0007076Extrapyramidal muscular rigidity2HNRNPH2 CL E G H3188300986Mental retardation, X-linked, syndromic, Bain type300986C4310814OMIM11965042300610
HP:0001276HP:0031866Clasp-knife sign2HNRNPH2 CL E G H3188300986Mental retardation, X-linked, syndromic, Bain type300986C4310814OMIM11965042300610
HP:0001276HP:0002061Lower limb spasticity2HNRNPH2 CL E G H3188300986Mental retardation, X-linked, syndromic, Bain type300986C4310814OMIM11965042300610
HP:0001276HP:0002179Opisthotonus2HNRNPH2 CL E G H3188300986Mental retardation, X-linked, syndromic, Bain type300986C4310814OMIM11965042300610
HP:0001276HP:0002191Progressive spasticity2HNRNPH2 CL E G H3188300986Mental retardation, X-linked, syndromic, Bain type300986C4310814OMIM11965042300610
HP:0001276HP:0001264Spastic diplegia2HNRNPH2 CL E G H3188300986Mental retardation, X-linked, syndromic, Bain type300986C4310814OMIM11965042300610
HP:0001276HP:0002464Spastic dysarthria2HNRNPH2 CL E G H3188300986Mental retardation, X-linked, syndromic, Bain type300986C4310814OMIM11965042300610
HP:0001276HP:0002064Spastic gait2HNRNPH2 CL E G H3188300986Mental retardation, X-linked, syndromic, Bain type300986C4310814OMIM11965042300610
HP:0001276HP:0011099Spastic hemiparesis2HNRNPH2 CL E G H3188300986Mental retardation, X-linked, syndromic, Bain type300986C4310814OMIM11965042300610
HP:0001276HP:0001285Spastic tetraparesis2HNRNPH2 CL E G H3188300986Mental retardation, X-linked, syndromic, Bain type300986C4310814OMIM11965042300610
HP:0001276HP:0002510Spastic tetraplegia2HNRNPH2 CL E G H3188300986Mental retardation, X-linked, syndromic, Bain type300986C4310814OMIM11965042300610
HP:0001276HP:0002501Spasticity of pharyngeal muscles2HNRNPH2 CL E G H3188300986Mental retardation, X-linked, syndromic, Bain type300986C4310814OMIM11965042300610
HP:0001276HP:0006986Upper limb spasticity2HNRNPH2 CL E G H3188300986Mental retardation, X-linked, syndromic, Bain type300986C4310814OMIM11965042300610
HP:0001276HP:0002491Spasticity of facial muscles2HSPG2 CL E G H3339800ORPHA124975273142461
HP:0001276HP:0200049Upper limb hypertonia2HSPG2 CL E G H3339800ORPHA124975273142461
HP:0001276HP:0006895Lower limb hypertonia2HSPG2 CL E G H3339800ORPHA124975273142461
HP:0001276HP:0002396Cogwheel rigidity2HSPG2 CL E G H3339800ORPHA124975273142461
HP:0001276HP:0025013Decerebrate rigidity2HSPG2 CL E G H3339800ORPHA124975273142461
HP:0001276HP:0011444Decorticate rigidity2HSPG2 CL E G H3339800ORPHA124975273142461
HP:0001276HP:0007076Extrapyramidal muscular rigidity2HSPG2 CL E G H3339800ORPHA124975273142461
HP:0001276HP:0031866Clasp-knife sign2HSPG2 CL E G H3339800ORPHA124975273142461
HP:0001276HP:0002061Lower limb spasticity2HSPG2 CL E G H3339800ORPHA124975273142461
HP:0001276HP:0002179Opisthotonus2HSPG2 CL E G H3339800ORPHA124975273142461
HP:0001276HP:0002191Progressive spasticity2HSPG2 CL E G H3339800ORPHA124975273142461
HP:0001276HP:0001264Spastic diplegia2HSPG2 CL E G H3339800ORPHA124975273142461
HP:0001276HP:0002464Spastic dysarthria2HSPG2 CL E G H3339800ORPHA124975273142461
HP:0001276HP:0002064Spastic gait2HSPG2 CL E G H3339800ORPHA124975273142461
HP:0001276HP:0011099Spastic hemiparesis2HSPG2 CL E G H3339800ORPHA124975273142461
HP:0001276HP:0001285Spastic tetraparesis2HSPG2 CL E G H3339800ORPHA124975273142461
HP:0001276HP:0002510Spastic tetraplegia2HSPG2 CL E G H3339800ORPHA124975273142461
HP:0001276HP:0002501Spasticity of pharyngeal muscles2HSPG2 CL E G H3339800ORPHA124975273142461
HP:0001276HP:0006986Upper limb spasticity2HSPG2 CL E G H3339800ORPHA124975273142461
HP:0001276HP:0002491Spasticity of facial muscles2HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM124414348606441
HP:0001276HP:0200049Upper limb hypertonia2HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM124414348606441
HP:0001276HP:0006895Lower limb hypertonia2HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM124414348606441
HP:0001276HP:0002396Cogwheel rigidity2HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM124414348606441
HP:0001276HP:0025013Decerebrate rigidity2HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM124414348606441
HP:0001276HP:0011444Decorticate rigidity2HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM124414348606441
HP:0001276HP:0007076Extrapyramidal muscular rigidity2HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM124414348606441
HP:0001276HP:0031866Clasp-knife sign2HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM124414348606441
HP:0001276HP:0002061Lower limb spasticity2HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM124414348606441
HP:0001276HP:0002179Opisthotonus2HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM124414348606441
HP:0001276HP:0002191Progressive spasticity2HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM124414348606441
HP:0001276HP:0001264Spastic diplegia2HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM124414348606441
HP:0001276HP:0002464Spastic dysarthria2HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM124414348606441
HP:0001276HP:0002064Spastic gait2HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM124414348606441
HP:0001276HP:0011099Spastic hemiparesis2HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM124414348606441
HP:0001276HP:0001285Spastic tetraparesis2HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM124414348606441
HP:0001276HP:0002510Spastic tetraplegia2HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM124414348606441
HP:0001276HP:0002501Spasticity of pharyngeal muscles2HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM124414348606441
HP:0001276HP:0006986Upper limb spasticity2HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM124414348606441
HP:0001276HP:0002491Spasticity of facial muscles2ITM2B CL E G H9445176500Dementia familial British176500C1867773OMIM11776174603904
HP:0001276HP:0200049Upper limb hypertonia2ITM2B CL E G H9445176500Dementia familial British176500C1867773OMIM11776174603904
HP:0001276HP:0006895Lower limb hypertonia2ITM2B CL E G H9445176500Dementia familial British176500C1867773OMIM11776174603904
HP:0001276HP:0002396Cogwheel rigidity2ITM2B CL E G H9445176500Dementia familial British176500C1867773OMIM11776174603904
HP:0001276HP:0025013Decerebrate rigidity2ITM2B CL E G H9445176500Dementia familial British176500C1867773OMIM11776174603904
HP:0001276HP:0011444Decorticate rigidity2ITM2B CL E G H9445176500Dementia familial British176500C1867773OMIM11776174603904
HP:0001276HP:0007076Extrapyramidal muscular rigidity2ITM2B CL E G H9445176500Dementia familial British176500C1867773OMIM11776174603904
HP:0001276HP:0031866Clasp-knife sign2ITM2B CL E G H9445176500Dementia familial British176500C1867773OMIM11776174603904
HP:0001276HP:0002061Lower limb spasticity2ITM2B CL E G H9445176500Dementia familial British176500C1867773OMIM11776174603904
HP:0001276HP:0002179Opisthotonus2ITM2B CL E G H9445176500Dementia familial British176500C1867773OMIM11776174603904
HP:0001276HP:0002191Progressive spasticity2ITM2B CL E G H9445176500Dementia familial British176500C1867773OMIM11776174603904
HP:0001276HP:0001264Spastic diplegia2ITM2B CL E G H9445176500Dementia familial British176500C1867773OMIM11776174603904
HP:0001276HP:0002464Spastic dysarthria2ITM2B CL E G H9445176500Dementia familial British176500C1867773OMIM11776174603904
HP:0001276HP:0002064Spastic gait2ITM2B CL E G H9445176500Dementia familial British176500C1867773OMIM11776174603904
HP:0001276HP:0011099Spastic hemiparesis2ITM2B CL E G H9445176500Dementia familial British176500C1867773OMIM11776174603904
HP:0001276HP:0001285Spastic tetraparesis2ITM2B CL E G H9445176500Dementia familial British176500C1867773OMIM11776174603904
HP:0001276HP:0002510Spastic tetraplegia2ITM2B CL E G H9445176500Dementia familial British176500C1867773OMIM11776174603904
HP:0001276HP:0002501Spasticity of pharyngeal muscles2ITM2B CL E G H9445176500Dementia familial British176500C1867773OMIM11776174603904
HP:0001276HP:0006986Upper limb spasticity2ITM2B CL E G H9445176500Dementia familial British176500C1867773OMIM11776174603904
HP:0001276HP:0002491Spasticity of facial muscles2KCNQ2 CL E G H3785306ORPHA119626296602235
HP:0001276HP:0200049Upper limb hypertonia2KCNQ2 CL E G H3785306ORPHA119626296602235
HP:0001276HP:0006895Lower limb hypertonia2KCNQ2 CL E G H3785306ORPHA119626296602235
HP:0001276HP:0002396Cogwheel rigidity2KCNQ2 CL E G H3785306ORPHA119626296602235
HP:0001276HP:0025013Decerebrate rigidity2KCNQ2 CL E G H3785306ORPHA119626296602235
HP:0001276HP:0011444Decorticate rigidity2KCNQ2 CL E G H3785306ORPHA119626296602235
HP:0001276HP:0007076Extrapyramidal muscular rigidity2KCNQ2 CL E G H3785306ORPHA119626296602235
HP:0001276HP:0031866Clasp-knife sign2KCNQ2 CL E G H3785306ORPHA119626296602235
HP:0001276HP:0002061Lower limb spasticity2KCNQ2 CL E G H3785306ORPHA119626296602235
HP:0001276HP:0002179Opisthotonus2KCNQ2 CL E G H3785306ORPHA119626296602235
HP:0001276HP:0002191Progressive spasticity2KCNQ2 CL E G H3785306ORPHA119626296602235
HP:0001276HP:0001264Spastic diplegia2KCNQ2 CL E G H3785306ORPHA119626296602235
HP:0001276HP:0002464Spastic dysarthria2KCNQ2 CL E G H3785306ORPHA119626296602235
HP:0001276HP:0002064Spastic gait2KCNQ2 CL E G H3785306ORPHA119626296602235
HP:0001276HP:0011099Spastic hemiparesis2KCNQ2 CL E G H3785306ORPHA119626296602235
HP:0001276HP:0001285Spastic tetraparesis2KCNQ2 CL E G H3785306ORPHA119626296602235
HP:0001276HP:0002510Spastic tetraplegia2KCNQ2 CL E G H3785306ORPHA119626296602235
HP:0001276HP:0002501Spasticity of pharyngeal muscles2KCNQ2 CL E G H3785306ORPHA119626296602235
HP:0001276HP:0006986Upper limb spasticity2KCNQ2 CL E G H3785306ORPHA119626296602235
HP:0001276HP:0002491Spasticity of facial muscles2KCNQ2 CL E G H37851949Benign familial neonatal seizuresCN200689ORPHA119626296602235
HP:0001276HP:0200049Upper limb hypertonia2KCNQ2 CL E G H37851949Benign familial neonatal seizuresCN200689ORPHA119626296602235
HP:0001276HP:0006895Lower limb hypertonia2KCNQ2 CL E G H37851949Benign familial neonatal seizuresCN200689ORPHA119626296602235
HP:0001276HP:0002396Cogwheel rigidity2KCNQ2 CL E G H37851949Benign familial neonatal seizuresCN200689ORPHA119626296602235
HP:0001276HP:0025013Decerebrate rigidity2KCNQ2 CL E G H37851949Benign familial neonatal seizuresCN200689ORPHA119626296602235
HP:0001276HP:0011444Decorticate rigidity2KCNQ2 CL E G H37851949Benign familial neonatal seizuresCN200689ORPHA119626296602235
HP:0001276HP:0007076Extrapyramidal muscular rigidity2KCNQ2 CL E G H37851949Benign familial neonatal seizuresCN200689ORPHA119626296602235
HP:0001276HP:0031866Clasp-knife sign2KCNQ2 CL E G H37851949Benign familial neonatal seizuresCN200689ORPHA119626296602235
HP:0001276HP:0002061Lower limb spasticity2KCNQ2 CL E G H37851949Benign familial neonatal seizuresCN200689ORPHA119626296602235
HP:0001276HP:0002179Opisthotonus2KCNQ2 CL E G H37851949Benign familial neonatal seizuresCN200689ORPHA119626296602235
HP:0001276HP:0002191Progressive spasticity2KCNQ2 CL E G H37851949Benign familial neonatal seizuresCN200689ORPHA119626296602235
HP:0001276HP:0001264Spastic diplegia2KCNQ2 CL E G H37851949Benign familial neonatal seizuresCN200689ORPHA119626296602235
HP:0001276HP:0002464Spastic dysarthria2KCNQ2 CL E G H37851949Benign familial neonatal seizuresCN200689ORPHA119626296602235
HP:0001276HP:0002064Spastic gait2KCNQ2 CL E G H37851949Benign familial neonatal seizuresCN200689ORPHA119626296602235
HP:0001276HP:0011099Spastic hemiparesis2KCNQ2 CL E G H37851949Benign familial neonatal seizuresCN200689ORPHA119626296602235
HP:0001276HP:0001285Spastic tetraparesis2KCNQ2 CL E G H37851949Benign familial neonatal seizuresCN200689ORPHA119626296602235
HP:0001276HP:0002510Spastic tetraplegia2KCNQ2 CL E G H37851949Benign familial neonatal seizuresCN200689ORPHA119626296602235
HP:0001276HP:0002501Spasticity of pharyngeal muscles2KCNQ2 CL E G H37851949Benign familial neonatal seizuresCN200689ORPHA119626296602235
HP:0001276HP:0006986Upper limb spasticity2KCNQ2 CL E G H37851949Benign familial neonatal seizuresCN200689ORPHA119626296602235
HP:0001276HP:0002491Spasticity of facial muscles2KCNQ3 CL E G H3786306ORPHA112276297602232
HP:0001276HP:0200049Upper limb hypertonia2KCNQ3 CL E G H3786306ORPHA112276297602232
HP:0001276HP:0006895Lower limb hypertonia2KCNQ3 CL E G H3786306ORPHA112276297602232
HP:0001276HP:0002396Cogwheel rigidity2KCNQ3 CL E G H3786306ORPHA112276297602232
HP:0001276HP:0025013Decerebrate rigidity2KCNQ3 CL E G H3786306ORPHA112276297602232
HP:0001276HP:0011444Decorticate rigidity2KCNQ3 CL E G H3786306ORPHA112276297602232
HP:0001276HP:0007076Extrapyramidal muscular rigidity2KCNQ3 CL E G H3786306ORPHA112276297602232
HP:0001276HP:0031866Clasp-knife sign2KCNQ3 CL E G H3786306ORPHA112276297602232
HP:0001276HP:0002061Lower limb spasticity2KCNQ3 CL E G H3786306ORPHA112276297602232
HP:0001276HP:0002179Opisthotonus2KCNQ3 CL E G H3786306ORPHA112276297602232
HP:0001276HP:0002191Progressive spasticity2KCNQ3 CL E G H3786306ORPHA112276297602232
HP:0001276HP:0001264Spastic diplegia2KCNQ3 CL E G H3786306ORPHA112276297602232
HP:0001276HP:0002464Spastic dysarthria2KCNQ3 CL E G H3786306ORPHA112276297602232
HP:0001276HP:0002064Spastic gait2KCNQ3 CL E G H3786306ORPHA112276297602232
HP:0001276HP:0011099Spastic hemiparesis2KCNQ3 CL E G H3786306ORPHA112276297602232
HP:0001276HP:0001285Spastic tetraparesis2KCNQ3 CL E G H3786306ORPHA112276297602232
HP:0001276HP:0002510Spastic tetraplegia2KCNQ3 CL E G H3786306ORPHA112276297602232
HP:0001276HP:0002501Spasticity of pharyngeal muscles2KCNQ3 CL E G H3786306ORPHA112276297602232
HP:0001276HP:0006986Upper limb spasticity2KCNQ3 CL E G H3786306ORPHA112276297602232
HP:0001276HP:0002491Spasticity of facial muscles2KCNQ3 CL E G H37861949Benign familial neonatal seizuresCN200689ORPHA112276297602232
HP:0001276HP:0200049Upper limb hypertonia2KCNQ3 CL E G H37861949Benign familial neonatal seizuresCN200689ORPHA112276297602232
HP:0001276HP:0006895Lower limb hypertonia2KCNQ3 CL E G H37861949Benign familial neonatal seizuresCN200689ORPHA112276297602232
HP:0001276HP:0002396Cogwheel rigidity2KCNQ3 CL E G H37861949Benign familial neonatal seizuresCN200689ORPHA112276297602232
HP:0001276HP:0025013Decerebrate rigidity2KCNQ3 CL E G H37861949Benign familial neonatal seizuresCN200689ORPHA112276297602232
HP:0001276HP:0011444Decorticate rigidity2KCNQ3 CL E G H37861949Benign familial neonatal seizuresCN200689ORPHA112276297602232
HP:0001276HP:0007076Extrapyramidal muscular rigidity2KCNQ3 CL E G H37861949Benign familial neonatal seizuresCN200689ORPHA112276297602232
HP:0001276HP:0031866Clasp-knife sign2KCNQ3 CL E G H37861949Benign familial neonatal seizuresCN200689ORPHA112276297602232
HP:0001276HP:0002061Lower limb spasticity2KCNQ3 CL E G H37861949Benign familial neonatal seizuresCN200689ORPHA112276297602232
HP:0001276HP:0002179Opisthotonus2KCNQ3 CL E G H37861949Benign familial neonatal seizuresCN200689ORPHA112276297602232
HP:0001276HP:0002191Progressive spasticity2KCNQ3 CL E G H37861949Benign familial neonatal seizuresCN200689ORPHA112276297602232
HP:0001276HP:0001264Spastic diplegia2KCNQ3 CL E G H37861949Benign familial neonatal seizuresCN200689ORPHA112276297602232
HP:0001276HP:0002464Spastic dysarthria2KCNQ3 CL E G H37861949Benign familial neonatal seizuresCN200689ORPHA112276297602232
HP:0001276HP:0002064Spastic gait2KCNQ3 CL E G H37861949Benign familial neonatal seizuresCN200689ORPHA112276297602232
HP:0001276HP:0011099Spastic hemiparesis2KCNQ3 CL E G H37861949Benign familial neonatal seizuresCN200689ORPHA112276297602232
HP:0001276HP:0001285Spastic tetraparesis2KCNQ3 CL E G H37861949Benign familial neonatal seizuresCN200689ORPHA112276297602232
HP:0001276HP:0002510Spastic tetraplegia2KCNQ3 CL E G H37861949Benign familial neonatal seizuresCN200689ORPHA112276297602232
HP:0001276HP:0002501Spasticity of pharyngeal muscles2KCNQ3 CL E G H37861949Benign familial neonatal seizuresCN200689ORPHA112276297602232
HP:0001276HP:0006986Upper limb spasticity2KCNQ3 CL E G H37861949Benign familial neonatal seizuresCN200689ORPHA112276297602232
HP:0001276HP:0002491Spasticity of facial muscles2KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA120737132159555
HP:0001276HP:0200049Upper limb hypertonia2KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA120737132159555
HP:0001276HP:0006895Lower limb hypertonia2KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA120737132159555
HP:0001276HP:0002396Cogwheel rigidity2KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA120737132159555
HP:0001276HP:0025013Decerebrate rigidity2KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA120737132159555
HP:0001276HP:0011444Decorticate rigidity2KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA120737132159555
HP:0001276HP:0007076Extrapyramidal muscular rigidity2KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA120737132159555
HP:0001276HP:0031866Clasp-knife sign2KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA120737132159555
HP:0001276HP:0002061Lower limb spasticity2KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA120737132159555
HP:0001276HP:0002179Opisthotonus2KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA120737132159555
HP:0001276HP:0002191Progressive spasticity2KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA120737132159555
HP:0001276HP:0001264Spastic diplegia2KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA120737132159555
HP:0001276HP:0002464Spastic dysarthria2KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA120737132159555
HP:0001276HP:0002064Spastic gait2KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA120737132159555
HP:0001276HP:0011099Spastic hemiparesis2KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA120737132159555
HP:0001276HP:0001285Spastic tetraparesis2KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA120737132159555
HP:0001276HP:0002510Spastic tetraplegia2KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA120737132159555
HP:0001276HP:0002501Spasticity of pharyngeal muscles2KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA120737132159555
HP:0001276HP:0006986Upper limb spasticity2KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA120737132159555
HP:0001276HP:0002491Spasticity of facial muscles2KRAS CL E G H3845144ORPHA14806407190070
HP:0001276HP:0200049Upper limb hypertonia2KRAS CL E G H3845144ORPHA14806407190070
HP:0001276HP:0006895Lower limb hypertonia2KRAS CL E G H3845144ORPHA14806407190070
HP:0001276HP:0002396Cogwheel rigidity2KRAS CL E G H3845144ORPHA14806407190070
HP:0001276HP:0025013Decerebrate rigidity2KRAS CL E G H3845144ORPHA14806407190070
HP:0001276HP:0011444Decorticate rigidity2KRAS CL E G H3845144ORPHA14806407190070
HP:0001276HP:0007076Extrapyramidal muscular rigidity2KRAS CL E G H3845144ORPHA14806407190070
HP:0001276HP:0031866Clasp-knife sign2KRAS CL E G H3845144ORPHA14806407190070
HP:0001276HP:0002061Lower limb spasticity2KRAS CL E G H3845144ORPHA14806407190070
HP:0001276HP:0002179Opisthotonus2KRAS CL E G H3845144ORPHA14806407190070
HP:0001276HP:0002191Progressive spasticity2KRAS CL E G H3845144ORPHA14806407190070
HP:0001276HP:0001264Spastic diplegia2KRAS CL E G H3845144ORPHA14806407190070
HP:0001276HP:0002464Spastic dysarthria2KRAS CL E G H3845144ORPHA14806407190070
HP:0001276HP:0002064Spastic gait2KRAS CL E G H3845144ORPHA14806407190070
HP:0001276HP:0011099Spastic hemiparesis2KRAS CL E G H3845144ORPHA14806407190070
HP:0001276HP:0001285Spastic tetraparesis2KRAS CL E G H3845144ORPHA14806407190070
HP:0001276HP:0002510Spastic tetraplegia2KRAS CL E G H3845144ORPHA14806407190070
HP:0001276HP:0002501Spasticity of pharyngeal muscles2KRAS CL E G H3845144ORPHA14806407190070
HP:0001276HP:0006986Upper limb spasticity2KRAS CL E G H3845144ORPHA14806407190070
HP:0001276HP:0002491Spasticity of facial muscles2KYNU CL E G H894279155ORPHA1816469605197
HP:0001276HP:0200049Upper limb hypertonia2KYNU CL E G H894279155ORPHA1816469605197
HP:0001276HP:0006895Lower limb hypertonia2KYNU CL E G H894279155ORPHA1816469605197
HP:0001276HP:0002396Cogwheel rigidity2KYNU CL E G H894279155ORPHA1816469605197
HP:0001276HP:0025013Decerebrate rigidity2KYNU CL E G H894279155ORPHA1816469605197
HP:0001276HP:0011444Decorticate rigidity2KYNU CL E G H894279155ORPHA1816469605197
HP:0001276HP:0007076Extrapyramidal muscular rigidity2KYNU CL E G H894279155ORPHA1816469605197
HP:0001276HP:0031866Clasp-knife sign2KYNU CL E G H894279155ORPHA1816469605197
HP:0001276HP:0002061Lower limb spasticity2KYNU CL E G H894279155ORPHA1816469605197
HP:0001276HP:0002179Opisthotonus2KYNU CL E G H894279155ORPHA1816469605197
HP:0001276HP:0002191Progressive spasticity2KYNU CL E G H894279155ORPHA1816469605197
HP:0001276HP:0001264Spastic diplegia2KYNU CL E G H894279155ORPHA1816469605197
HP:0001276HP:0002464Spastic dysarthria2KYNU CL E G H894279155ORPHA1816469605197
HP:0001276HP:0002064Spastic gait2KYNU CL E G H894279155ORPHA1816469605197
HP:0001276HP:0011099Spastic hemiparesis2KYNU CL E G H894279155ORPHA1816469605197
HP:0001276HP:0001285Spastic tetraparesis2KYNU CL E G H894279155ORPHA1816469605197
HP:0001276HP:0002510Spastic tetraplegia2KYNU CL E G H894279155ORPHA1816469605197
HP:0001276HP:0002501Spasticity of pharyngeal muscles2KYNU CL E G H894279155ORPHA1816469605197
HP:0001276HP:0006986Upper limb spasticity2KYNU CL E G H894279155ORPHA1816469605197
HP:0001276HP:0002491Spasticity of facial muscles2KYNU CL E G H8942236800Hydroxykynureninuria236800C0268474OMIM1816469605197
HP:0001276HP:0200049Upper limb hypertonia2KYNU CL E G H8942236800Hydroxykynureninuria236800C0268474OMIM1816469605197
HP:0001276HP:0006895Lower limb hypertonia2KYNU CL E G H8942236800Hydroxykynureninuria236800C0268474OMIM1816469605197
HP:0001276HP:0002396Cogwheel rigidity2KYNU CL E G H8942236800Hydroxykynureninuria236800C0268474OMIM1816469605197
HP:0001276HP:0025013Decerebrate rigidity2KYNU CL E G H8942236800Hydroxykynureninuria236800C0268474OMIM1816469605197
HP:0001276HP:0011444Decorticate rigidity2KYNU CL E G H8942236800Hydroxykynureninuria236800C0268474OMIM1816469605197
HP:0001276HP:0007076Extrapyramidal muscular rigidity2KYNU CL E G H8942236800Hydroxykynureninuria236800C0268474OMIM1816469605197
HP:0001276HP:0031866Clasp-knife sign2KYNU CL E G H8942236800Hydroxykynureninuria236800C0268474OMIM1816469605197
HP:0001276HP:0002061Lower limb spasticity2KYNU CL E G H8942236800Hydroxykynureninuria236800C0268474OMIM1816469605197
HP:0001276HP:0002179Opisthotonus2KYNU CL E G H8942236800Hydroxykynureninuria236800C0268474OMIM1816469605197
HP:0001276HP:0002191Progressive spasticity2KYNU CL E G H8942236800Hydroxykynureninuria236800C0268474OMIM1816469605197
HP:0001276HP:0001264Spastic diplegia2KYNU CL E G H8942236800Hydroxykynureninuria236800C0268474OMIM1816469605197
HP:0001276HP:0002464Spastic dysarthria2KYNU CL E G H8942236800Hydroxykynureninuria236800C0268474OMIM1816469605197
HP:0001276HP:0002064Spastic gait2KYNU CL E G H8942236800Hydroxykynureninuria236800C0268474OMIM1816469605197
HP:0001276HP:0011099Spastic hemiparesis2KYNU CL E G H8942236800Hydroxykynureninuria236800C0268474OMIM1816469605197
HP:0001276HP:0001285Spastic tetraparesis2KYNU CL E G H8942236800Hydroxykynureninuria236800C0268474OMIM1816469605197
HP:0001276HP:0002510Spastic tetraplegia2KYNU CL E G H8942236800Hydroxykynureninuria236800C0268474OMIM1816469605197
HP:0001276HP:0002501Spasticity of pharyngeal muscles2KYNU CL E G H8942236800Hydroxykynureninuria236800C0268474OMIM1816469605197
HP:0001276HP:0006986Upper limb spasticity2KYNU CL E G H8942236800Hydroxykynureninuria236800C0268474OMIM1816469605197
HP:0001276HP:0002491Spasticity of facial muscles2LARGE1 CL E G H9215588ORPHA17866511603590
HP:0001276HP:0200049Upper limb hypertonia2LARGE1 CL E G H9215588ORPHA17866511603590
HP:0001276HP:0006895Lower limb hypertonia2LARGE1 CL E G H9215588ORPHA17866511603590
HP:0001276HP:0002396Cogwheel rigidity2LARGE1 CL E G H9215588ORPHA17866511603590
HP:0001276HP:0025013Decerebrate rigidity2LARGE1 CL E G H9215588ORPHA17866511603590
HP:0001276HP:0011444Decorticate rigidity2LARGE1 CL E G H9215588ORPHA17866511603590
HP:0001276HP:0007076Extrapyramidal muscular rigidity2LARGE1 CL E G H9215588ORPHA17866511603590
HP:0001276HP:0031866Clasp-knife sign2LARGE1 CL E G H9215588ORPHA17866511603590
HP:0001276HP:0002061Lower limb spasticity2LARGE1 CL E G H9215588ORPHA17866511603590
HP:0001276HP:0002179Opisthotonus2LARGE1 CL E G H9215588ORPHA17866511603590
HP:0001276HP:0002191Progressive spasticity2LARGE1 CL E G H9215588ORPHA17866511603590
HP:0001276HP:0001264Spastic diplegia2LARGE1 CL E G H9215588ORPHA17866511603590
HP:0001276HP:0002464Spastic dysarthria2LARGE1 CL E G H9215588ORPHA17866511603590
HP:0001276HP:0002064Spastic gait2LARGE1 CL E G H9215588ORPHA17866511603590
HP:0001276HP:0011099Spastic hemiparesis2LARGE1 CL E G H9215588ORPHA17866511603590
HP:0001276HP:0001285Spastic tetraparesis2LARGE1 CL E G H9215588ORPHA17866511603590
HP:0001276HP:0002510Spastic tetraplegia2LARGE1 CL E G H9215588ORPHA17866511603590
HP:0001276HP:0002501Spasticity of pharyngeal muscles2LARGE1 CL E G H9215588ORPHA17866511603590
HP:0001276HP:0006986Upper limb spasticity2LARGE1 CL E G H9215588ORPHA17866511603590
HP:0001276HP:0002491Spasticity of facial muscles2MBOAT7 CL E G H79143617188Mental retardation, autosomal recessive 57617188C4310673OMIM111315505606048
HP:0001276HP:0200049Upper limb hypertonia2MBOAT7 CL E G H79143617188Mental retardation, autosomal recessive 57617188C4310673OMIM111315505606048
HP:0001276HP:0006895Lower limb hypertonia2MBOAT7 CL E G H79143617188Mental retardation, autosomal recessive 57617188C4310673OMIM111315505606048
HP:0001276HP:0002396Cogwheel rigidity2MBOAT7 CL E G H79143617188Mental retardation, autosomal recessive 57617188C4310673OMIM111315505606048
HP:0001276HP:0025013Decerebrate rigidity2MBOAT7 CL E G H79143617188Mental retardation, autosomal recessive 57617188C4310673OMIM111315505606048
HP:0001276HP:0011444Decorticate rigidity2MBOAT7 CL E G H79143617188Mental retardation, autosomal recessive 57617188C4310673OMIM111315505606048
HP:0001276HP:0007076Extrapyramidal muscular rigidity2MBOAT7 CL E G H79143617188Mental retardation, autosomal recessive 57617188C4310673OMIM111315505606048
HP:0001276HP:0031866Clasp-knife sign2MBOAT7 CL E G H79143617188Mental retardation, autosomal recessive 57617188C4310673OMIM111315505606048
HP:0001276HP:0002061Lower limb spasticity2MBOAT7 CL E G H79143617188Mental retardation, autosomal recessive 57617188C4310673OMIM111315505606048
HP:0001276HP:0002179Opisthotonus2MBOAT7 CL E G H79143617188Mental retardation, autosomal recessive 57617188C4310673OMIM111315505606048
HP:0001276HP:0002191Progressive spasticity2MBOAT7 CL E G H79143617188Mental retardation, autosomal recessive 57617188C4310673OMIM111315505606048
HP:0001276HP:0001264Spastic diplegia2MBOAT7 CL E G H79143617188Mental retardation, autosomal recessive 57617188C4310673OMIM111315505606048
HP:0001276HP:0002464Spastic dysarthria2MBOAT7 CL E G H79143617188Mental retardation, autosomal recessive 57617188C4310673OMIM111315505606048
HP:0001276HP:0002064Spastic gait2MBOAT7 CL E G H79143617188Mental retardation, autosomal recessive 57617188C4310673OMIM111315505606048
HP:0001276HP:0011099Spastic hemiparesis2MBOAT7 CL E G H79143617188Mental retardation, autosomal recessive 57617188C4310673OMIM111315505606048
HP:0001276HP:0001285Spastic tetraparesis2MBOAT7 CL E G H79143617188Mental retardation, autosomal recessive 57617188C4310673OMIM111315505606048
HP:0001276HP:0002510Spastic tetraplegia2MBOAT7 CL E G H79143617188Mental retardation, autosomal recessive 57617188C4310673OMIM111315505606048
HP:0001276HP:0002501Spasticity of pharyngeal muscles2MBOAT7 CL E G H79143617188Mental retardation, autosomal recessive 57617188C4310673OMIM111315505606048
HP:0001276HP:0006986Upper limb spasticity2MBOAT7 CL E G H79143617188Mental retardation, autosomal recessive 57617188C4310673OMIM111315505606048
HP:0001276HP:0002491Spasticity of facial muscles2MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM1122216877608507
HP:0001276HP:0200049Upper limb hypertonia2MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM1122216877608507
HP:0001276HP:0006895Lower limb hypertonia2MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM1122216877608507
HP:0001276HP:0002396Cogwheel rigidity2MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM1122216877608507
HP:0001276HP:0025013Decerebrate rigidity2MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM1122216877608507
HP:0001276HP:0011444Decorticate rigidity2MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM1122216877608507
HP:0001276HP:0007076Extrapyramidal muscular rigidity2MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM1122216877608507
HP:0001276HP:0031866Clasp-knife sign2MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM1122216877608507
HP:0001276HP:0002061Lower limb spasticity2MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM1122216877608507
HP:0001276HP:0002179Opisthotonus2MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM1122216877608507
HP:0001276HP:0002191Progressive spasticity2MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM1122216877608507
HP:0001276HP:0001264Spastic diplegia2MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM1122216877608507
HP:0001276HP:0002464Spastic dysarthria2MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM1122216877608507
HP:0001276HP:0002064Spastic gait2MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM1122216877608507
HP:0001276HP:0011099Spastic hemiparesis2MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM1122216877608507
HP:0001276HP:0001285Spastic tetraparesis2MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM1122216877608507
HP:0001276HP:0002510Spastic tetraplegia2MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM1122216877608507
HP:0001276HP:0002501Spasticity of pharyngeal muscles2MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM1122216877608507
HP:0001276HP:0006986Upper limb spasticity2MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM1122216877608507
HP:0001276HP:0002491Spasticity of facial muscles2MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11487045602616
HP:0001276HP:0200049Upper limb hypertonia2MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11487045602616
HP:0001276HP:0006895Lower limb hypertonia2MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11487045602616
HP:0001276HP:0002396Cogwheel rigidity2MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11487045602616
HP:0001276HP:0025013Decerebrate rigidity2MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11487045602616
HP:0001276HP:0011444Decorticate rigidity2MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11487045602616
HP:0001276HP:0007076Extrapyramidal muscular rigidity2MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11487045602616
HP:0001276HP:0031866Clasp-knife sign2MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11487045602616
HP:0001276HP:0002061Lower limb spasticity2MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11487045602616
HP:0001276HP:0002179Opisthotonus2MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11487045602616
HP:0001276HP:0002191Progressive spasticity2MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11487045602616
HP:0001276HP:0001264Spastic diplegia2MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11487045602616
HP:0001276HP:0002464Spastic dysarthria2MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11487045602616
HP:0001276HP:0002064Spastic gait2MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11487045602616
HP:0001276HP:0011099Spastic hemiparesis2MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11487045602616
HP:0001276HP:0001285Spastic tetraparesis2MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11487045602616
HP:0001276HP:0002510Spastic tetraplegia2MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11487045602616
HP:0001276HP:0002501Spasticity of pharyngeal muscles2MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11487045602616
HP:0001276HP:0006986Upper limb spasticity2MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11487045602616
HP:0001276HP:0002491Spasticity of facial muscles2MIPEP CL E G H4285617228Combined oxidative phosphorylation deficiency 31617228C4310661OMIM12647104602241
HP:0001276HP:0200049Upper limb hypertonia2MIPEP CL E G H4285617228Combined oxidative phosphorylation deficiency 31617228C4310661OMIM12647104602241
HP:0001276HP:0006895Lower limb hypertonia2MIPEP CL E G H4285617228Combined oxidative phosphorylation deficiency 31617228C4310661OMIM12647104602241
HP:0001276HP:0002396Cogwheel rigidity2MIPEP CL E G H4285617228Combined oxidative phosphorylation deficiency 31617228C4310661OMIM12647104602241
HP:0001276HP:0025013Decerebrate rigidity2MIPEP CL E G H4285617228Combined oxidative phosphorylation deficiency 31617228C4310661OMIM12647104602241
HP:0001276HP:0011444Decorticate rigidity2MIPEP CL E G H4285617228Combined oxidative phosphorylation deficiency 31617228C4310661OMIM12647104602241
HP:0001276HP:0007076Extrapyramidal muscular rigidity2MIPEP CL E G H4285617228Combined oxidative phosphorylation deficiency 31617228C4310661OMIM12647104602241
HP:0001276HP:0031866Clasp-knife sign2MIPEP CL E G H4285617228Combined oxidative phosphorylation deficiency 31617228C4310661OMIM12647104602241
HP:0001276HP:0002061Lower limb spasticity2MIPEP CL E G H4285617228Combined oxidative phosphorylation deficiency 31617228C4310661OMIM12647104602241
HP:0001276HP:0002179Opisthotonus2MIPEP CL E G H4285617228Combined oxidative phosphorylation deficiency 31617228C4310661OMIM12647104602241
HP:0001276HP:0002191Progressive spasticity2MIPEP CL E G H4285617228Combined oxidative phosphorylation deficiency 31617228C4310661OMIM12647104602241
HP:0001276HP:0001264Spastic diplegia2MIPEP CL E G H4285617228Combined oxidative phosphorylation deficiency 31617228C4310661OMIM12647104602241
HP:0001276HP:0002464Spastic dysarthria2MIPEP CL E G H4285617228Combined oxidative phosphorylation deficiency 31617228C4310661OMIM12647104602241
HP:0001276HP:0002064Spastic gait2MIPEP CL E G H4285617228Combined oxidative phosphorylation deficiency 31617228C4310661OMIM12647104602241
HP:0001276HP:0011099Spastic hemiparesis2MIPEP CL E G H4285617228Combined oxidative phosphorylation deficiency 31617228C4310661OMIM12647104602241
HP:0001276HP:0001285Spastic tetraparesis2MIPEP CL E G H4285617228Combined oxidative phosphorylation deficiency 31617228C4310661OMIM12647104602241
HP:0001276HP:0002510Spastic tetraplegia2MIPEP CL E G H4285617228Combined oxidative phosphorylation deficiency 31617228C4310661OMIM12647104602241
HP:0001276HP:0002501Spasticity of pharyngeal muscles2MIPEP CL E G H4285617228Combined oxidative phosphorylation deficiency 31617228C4310661OMIM12647104602241
HP:0001276HP:0006986Upper limb spasticity2MIPEP CL E G H4285617228Combined oxidative phosphorylation deficiency 31617228C4310661OMIM12647104602241
HP:0001276HP:0002491Spasticity of facial muscles2MLH1 CL E G H4292144ORPHA151227127120436
HP:0001276HP:0200049Upper limb hypertonia2MLH1 CL E G H4292144ORPHA151227127120436
HP:0001276HP:0006895Lower limb hypertonia2MLH1 CL E G H4292144ORPHA151227127120436
HP:0001276HP:0002396Cogwheel rigidity2MLH1 CL E G H4292144ORPHA151227127120436
HP:0001276HP:0025013Decerebrate rigidity2MLH1 CL E G H4292144ORPHA151227127120436
HP:0001276HP:0011444Decorticate rigidity2MLH1 CL E G H4292144ORPHA151227127120436
HP:0001276HP:0007076Extrapyramidal muscular rigidity2MLH1 CL E G H4292144ORPHA151227127120436
HP:0001276HP:0031866Clasp-knife sign2MLH1 CL E G H4292144ORPHA151227127120436
HP:0001276HP:0002061Lower limb spasticity2MLH1 CL E G H4292144ORPHA151227127120436
HP:0001276HP:0002179Opisthotonus2MLH1 CL E G H4292144ORPHA151227127120436
HP:0001276HP:0002191Progressive spasticity2MLH1 CL E G H4292144ORPHA151227127120436
HP:0001276HP:0001264Spastic diplegia2MLH1 CL E G H4292144ORPHA151227127120436
HP:0001276HP:0002464Spastic dysarthria2MLH1 CL E G H4292144ORPHA151227127120436
HP:0001276HP:0002064Spastic gait2MLH1 CL E G H4292144ORPHA151227127120436
HP:0001276HP:0011099Spastic hemiparesis2MLH1 CL E G H4292144ORPHA151227127120436
HP:0001276HP:0001285Spastic tetraparesis2MLH1 CL E G H4292144ORPHA151227127120436
HP:0001276HP:0002510Spastic tetraplegia2MLH1 CL E G H4292144ORPHA151227127120436
HP:0001276HP:0002501Spasticity of pharyngeal muscles2MLH1 CL E G H4292144ORPHA151227127120436
HP:0001276HP:0006986Upper limb spasticity2MLH1 CL E G H4292144ORPHA151227127120436
HP:0001276HP:0002491Spasticity of facial muscles2MLH3 CL E G H27030144ORPHA122107128604395
HP:0001276HP:0200049Upper limb hypertonia2MLH3 CL E G H27030144ORPHA122107128604395
HP:0001276HP:0006895Lower limb hypertonia2MLH3 CL E G H27030144ORPHA122107128604395
HP:0001276HP:0002396Cogwheel rigidity2MLH3 CL E G H27030144ORPHA122107128604395
HP:0001276HP:0025013Decerebrate rigidity2MLH3 CL E G H27030144ORPHA122107128604395
HP:0001276HP:0011444Decorticate rigidity2MLH3 CL E G H27030144ORPHA122107128604395
HP:0001276HP:0007076Extrapyramidal muscular rigidity2MLH3 CL E G H27030144ORPHA122107128604395
HP:0001276HP:0031866Clasp-knife sign2MLH3 CL E G H27030144ORPHA122107128604395
HP:0001276HP:0002061Lower limb spasticity2MLH3 CL E G H27030144ORPHA122107128604395
HP:0001276HP:0002179Opisthotonus2MLH3 CL E G H27030144ORPHA122107128604395
HP:0001276HP:0002191Progressive spasticity2MLH3 CL E G H27030144ORPHA122107128604395
HP:0001276HP:0001264Spastic diplegia2MLH3 CL E G H27030144ORPHA122107128604395
HP:0001276HP:0002464Spastic dysarthria2MLH3 CL E G H27030144ORPHA122107128604395
HP:0001276HP:0002064Spastic gait2MLH3 CL E G H27030144ORPHA122107128604395
HP:0001276HP:0011099Spastic hemiparesis2MLH3 CL E G H27030144ORPHA122107128604395
HP:0001276HP:0001285Spastic tetraparesis2MLH3 CL E G H27030144ORPHA122107128604395
HP:0001276HP:0002510Spastic tetraplegia2MLH3 CL E G H27030144ORPHA122107128604395
HP:0001276HP:0002501Spasticity of pharyngeal muscles2MLH3 CL E G H27030144ORPHA122107128604395
HP:0001276HP:0006986Upper limb spasticity2MLH3 CL E G H27030144ORPHA122107128604395
HP:0001276HP:0002491Spasticity of facial muscles2MSH2 CL E G H4436144ORPHA168567325609309
HP:0001276HP:0200049Upper limb hypertonia2MSH2 CL E G H4436144ORPHA168567325609309
HP:0001276HP:0006895Lower limb hypertonia2MSH2 CL E G H4436144ORPHA168567325609309
HP:0001276HP:0002396Cogwheel rigidity2MSH2 CL E G H4436144ORPHA168567325609309
HP:0001276HP:0025013Decerebrate rigidity2MSH2 CL E G H4436144ORPHA168567325609309
HP:0001276HP:0011444Decorticate rigidity2MSH2 CL E G H4436144ORPHA168567325609309
HP:0001276HP:0007076Extrapyramidal muscular rigidity2MSH2 CL E G H4436144ORPHA168567325609309
HP:0001276HP:0031866Clasp-knife sign2MSH2 CL E G H4436144ORPHA168567325609309
HP:0001276HP:0002061Lower limb spasticity2MSH2 CL E G H4436144ORPHA168567325609309
HP:0001276HP:0002179Opisthotonus2MSH2 CL E G H4436144ORPHA168567325609309
HP:0001276HP:0002191Progressive spasticity2MSH2 CL E G H4436144ORPHA168567325609309
HP:0001276HP:0001264Spastic diplegia2MSH2 CL E G H4436144ORPHA168567325609309
HP:0001276HP:0002464Spastic dysarthria2MSH2 CL E G H4436144ORPHA168567325609309
HP:0001276HP:0002064Spastic gait2MSH2 CL E G H4436144ORPHA168567325609309
HP:0001276HP:0011099Spastic hemiparesis2MSH2 CL E G H4436144ORPHA168567325609309
HP:0001276HP:0001285Spastic tetraparesis2MSH2 CL E G H4436144ORPHA168567325609309
HP:0001276HP:0002510Spastic tetraplegia2MSH2 CL E G H4436144ORPHA168567325609309
HP:0001276HP:0002501Spasticity of pharyngeal muscles2MSH2 CL E G H4436144ORPHA168567325609309
HP:0001276HP:0006986Upper limb spasticity2MSH2 CL E G H4436144ORPHA168567325609309
HP:0001276HP:0002491Spasticity of facial muscles2MSH6 CL E G H2956144ORPHA184387329600678
HP:0001276HP:0200049Upper limb hypertonia2MSH6 CL E G H2956144ORPHA184387329600678
HP:0001276HP:0006895Lower limb hypertonia2MSH6 CL E G H2956144ORPHA184387329600678
HP:0001276HP:0002396Cogwheel rigidity2MSH6 CL E G H2956144ORPHA184387329600678
HP:0001276HP:0025013Decerebrate rigidity2MSH6 CL E G H2956144ORPHA184387329600678
HP:0001276HP:0011444Decorticate rigidity2MSH6 CL E G H2956144ORPHA184387329600678
HP:0001276HP:0007076Extrapyramidal muscular rigidity2MSH6 CL E G H2956144ORPHA184387329600678
HP:0001276HP:0031866Clasp-knife sign2MSH6 CL E G H2956144ORPHA184387329600678
HP:0001276HP:0002061Lower limb spasticity2MSH6 CL E G H2956144ORPHA184387329600678
HP:0001276HP:0002179Opisthotonus2MSH6 CL E G H2956144ORPHA184387329600678
HP:0001276HP:0002191Progressive spasticity2MSH6 CL E G H2956144ORPHA184387329600678
HP:0001276HP:0001264Spastic diplegia2MSH6 CL E G H2956144ORPHA184387329600678
HP:0001276HP:0002464Spastic dysarthria2MSH6 CL E G H2956144ORPHA184387329600678
HP:0001276HP:0002064Spastic gait2MSH6 CL E G H2956144ORPHA184387329600678
HP:0001276HP:0011099Spastic hemiparesis2MSH6 CL E G H2956144ORPHA184387329600678
HP:0001276HP:0001285Spastic tetraparesis2MSH6 CL E G H2956144ORPHA184387329600678
HP:0001276HP:0002510Spastic tetraplegia2MSH6 CL E G H2956144ORPHA184387329600678
HP:0001276HP:0002501Spasticity of pharyngeal muscles2MSH6 CL E G H2956144ORPHA184387329600678
HP:0001276HP:0006986Upper limb spasticity2MSH6 CL E G H2956144ORPHA184387329600678
HP:0001276HP:0002491Spasticity of facial muscles2MYO5A CL E G H464479476ORPHA13377602160777
HP:0001276HP:0200049Upper limb hypertonia2MYO5A CL E G H464479476ORPHA13377602160777
HP:0001276HP:0006895Lower limb hypertonia2MYO5A CL E G H464479476ORPHA13377602160777
HP:0001276HP:0002396Cogwheel rigidity2MYO5A CL E G H464479476ORPHA13377602160777
HP:0001276HP:0025013Decerebrate rigidity2MYO5A CL E G H464479476ORPHA13377602160777
HP:0001276HP:0011444Decorticate rigidity2MYO5A CL E G H464479476ORPHA13377602160777
HP:0001276HP:0007076Extrapyramidal muscular rigidity2MYO5A CL E G H464479476ORPHA13377602160777
HP:0001276HP:0031866Clasp-knife sign2MYO5A CL E G H464479476ORPHA13377602160777
HP:0001276HP:0002061Lower limb spasticity2MYO5A CL E G H464479476ORPHA13377602160777
HP:0001276HP:0002179Opisthotonus2MYO5A CL E G H464479476ORPHA13377602160777
HP:0001276HP:0002191Progressive spasticity2MYO5A CL E G H464479476ORPHA13377602160777
HP:0001276HP:0001264Spastic diplegia2MYO5A CL E G H464479476ORPHA13377602160777
HP:0001276HP:0002464Spastic dysarthria2MYO5A CL E G H464479476ORPHA13377602160777
HP:0001276HP:0002064Spastic gait2MYO5A CL E G H464479476ORPHA13377602160777
HP:0001276HP:0011099Spastic hemiparesis2MYO5A CL E G H464479476ORPHA13377602160777
HP:0001276HP:0001285Spastic tetraparesis2MYO5A CL E G H464479476ORPHA13377602160777
HP:0001276HP:0002510Spastic tetraplegia2MYO5A CL E G H464479476ORPHA13377602160777
HP:0001276HP:0002501Spasticity of pharyngeal muscles2MYO5A CL E G H464479476ORPHA13377602160777
HP:0001276HP:0006986Upper limb spasticity2MYO5A CL E G H464479476ORPHA13377602160777
HP:0001276HP:0002491Spasticity of facial muscles2NAA10 CL E G H8260300855N-terminal acetyltransferase deficiency300855C3275447OMIM140118704300013
HP:0001276HP:0200049Upper limb hypertonia2NAA10 CL E G H8260300855N-terminal acetyltransferase deficiency300855C3275447OMIM140118704300013
HP:0001276HP:0006895Lower limb hypertonia2NAA10 CL E G H8260300855N-terminal acetyltransferase deficiency300855C3275447OMIM140118704300013
HP:0001276HP:0002396Cogwheel rigidity2NAA10 CL E G H8260300855N-terminal acetyltransferase deficiency300855C3275447OMIM140118704300013
HP:0001276HP:0025013Decerebrate rigidity2NAA10 CL E G H8260300855N-terminal acetyltransferase deficiency300855C3275447OMIM140118704300013
HP:0001276HP:0011444Decorticate rigidity2NAA10 CL E G H8260300855N-terminal acetyltransferase deficiency300855C3275447OMIM140118704300013
HP:0001276HP:0007076Extrapyramidal muscular rigidity2NAA10 CL E G H8260300855N-terminal acetyltransferase deficiency300855C3275447OMIM140118704300013
HP:0001276HP:0031866Clasp-knife sign2NAA10 CL E G H8260300855N-terminal acetyltransferase deficiency300855C3275447OMIM140118704300013
HP:0001276HP:0002061Lower limb spasticity2NAA10 CL E G H8260300855N-terminal acetyltransferase deficiency300855C3275447OMIM140118704300013
HP:0001276HP:0002179Opisthotonus2NAA10 CL E G H8260300855N-terminal acetyltransferase deficiency300855C3275447OMIM140118704300013
HP:0001276HP:0002191Progressive spasticity2NAA10 CL E G H8260300855N-terminal acetyltransferase deficiency300855C3275447OMIM140118704300013
HP:0001276HP:0001264Spastic diplegia2NAA10 CL E G H8260300855N-terminal acetyltransferase deficiency300855C3275447OMIM140118704300013
HP:0001276HP:0002464Spastic dysarthria2NAA10 CL E G H8260300855N-terminal acetyltransferase deficiency300855C3275447OMIM140118704300013
HP:0001276HP:0002064Spastic gait2NAA10 CL E G H8260300855N-terminal acetyltransferase deficiency300855C3275447OMIM140118704300013
HP:0001276HP:0011099Spastic hemiparesis2NAA10 CL E G H8260300855N-terminal acetyltransferase deficiency300855C3275447OMIM140118704300013
HP:0001276HP:0001285Spastic tetraparesis2NAA10 CL E G H8260300855N-terminal acetyltransferase deficiency300855C3275447OMIM140118704300013
HP:0001276HP:0002510Spastic tetraplegia2NAA10 CL E G H8260300855N-terminal acetyltransferase deficiency300855C3275447OMIM140118704300013
HP:0001276HP:0002501Spasticity of pharyngeal muscles2NAA10 CL E G H8260300855N-terminal acetyltransferase deficiency300855C3275447OMIM140118704300013
HP:0001276HP:0006986Upper limb spasticity2NAA10 CL E G H8260300855N-terminal acetyltransferase deficiency300855C3275447OMIM140118704300013
HP:0001276HP:0002491Spasticity of facial muscles2NECAP1 CL E G H25977615833Early infantile epileptic encephalopathy 21615833C4014430OMIM122124539611623
HP:0001276HP:0200049Upper limb hypertonia2NECAP1 CL E G H25977615833Early infantile epileptic encephalopathy 21615833C4014430OMIM122124539611623
HP:0001276HP:0006895Lower limb hypertonia2NECAP1 CL E G H25977615833Early infantile epileptic encephalopathy 21615833C4014430OMIM122124539611623
HP:0001276HP:0002396Cogwheel rigidity2NECAP1 CL E G H25977615833Early infantile epileptic encephalopathy 21615833C4014430OMIM122124539611623
HP:0001276HP:0025013Decerebrate rigidity2NECAP1 CL E G H25977615833Early infantile epileptic encephalopathy 21615833C4014430OMIM122124539611623
HP:0001276HP:0011444Decorticate rigidity2NECAP1 CL E G H25977615833Early infantile epileptic encephalopathy 21615833C4014430OMIM122124539611623
HP:0001276HP:0007076Extrapyramidal muscular rigidity2NECAP1 CL E G H25977615833Early infantile epileptic encephalopathy 21615833C4014430OMIM122124539611623
HP:0001276HP:0031866Clasp-knife sign2NECAP1 CL E G H25977615833Early infantile epileptic encephalopathy 21615833C4014430OMIM122124539611623
HP:0001276HP:0002061Lower limb spasticity2NECAP1 CL E G H25977615833Early infantile epileptic encephalopathy 21615833C4014430OMIM122124539611623
HP:0001276HP:0002179Opisthotonus2NECAP1 CL E G H25977615833Early infantile epileptic encephalopathy 21615833C4014430OMIM122124539611623
HP:0001276HP:0002191Progressive spasticity2NECAP1 CL E G H25977615833Early infantile epileptic encephalopathy 21615833C4014430OMIM122124539611623
HP:0001276HP:0001264Spastic diplegia2NECAP1 CL E G H25977615833Early infantile epileptic encephalopathy 21615833C4014430OMIM122124539611623
HP:0001276HP:0002464Spastic dysarthria2NECAP1 CL E G H25977615833Early infantile epileptic encephalopathy 21615833C4014430OMIM122124539611623
HP:0001276HP:0002064Spastic gait2NECAP1 CL E G H25977615833Early infantile epileptic encephalopathy 21615833C4014430OMIM122124539611623
HP:0001276HP:0011099Spastic hemiparesis2NECAP1 CL E G H25977615833Early infantile epileptic encephalopathy 21615833C4014430OMIM122124539611623
HP:0001276HP:0001285Spastic tetraparesis2NECAP1 CL E G H25977615833Early infantile epileptic encephalopathy 21615833C4014430OMIM122124539611623
HP:0001276HP:0002510Spastic tetraplegia2NECAP1 CL E G H25977615833Early infantile epileptic encephalopathy 21615833C4014430OMIM122124539611623
HP:0001276HP:0002501Spasticity of pharyngeal muscles2NECAP1 CL E G H25977615833Early infantile epileptic encephalopathy 21615833C4014430OMIM122124539611623
HP:0001276HP:0006986Upper limb spasticity2NECAP1 CL E G H25977615833Early infantile epileptic encephalopathy 21615833C4014430OMIM122124539611623
HP:0001276HP:0002491Spasticity of facial muscles2NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA1154228862608667
HP:0001276HP:0200049Upper limb hypertonia2NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA1154228862608667
HP:0001276HP:0006895Lower limb hypertonia2NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA1154228862608667
HP:0001276HP:0002396Cogwheel rigidity2NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA1154228862608667
HP:0001276HP:0025013Decerebrate rigidity2NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA1154228862608667
HP:0001276HP:0011444Decorticate rigidity2NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA1154228862608667
HP:0001276HP:0007076Extrapyramidal muscular rigidity2NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA1154228862608667
HP:0001276HP:0031866Clasp-knife sign2NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA1154228862608667
HP:0001276HP:0002061Lower limb spasticity2NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA1154228862608667
HP:0001276HP:0002179Opisthotonus2NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA1154228862608667
HP:0001276HP:0002191Progressive spasticity2NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA1154228862608667
HP:0001276HP:0001264Spastic diplegia2NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA1154228862608667
HP:0001276HP:0002464Spastic dysarthria2NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA1154228862608667
HP:0001276HP:0002064Spastic gait2NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA1154228862608667
HP:0001276HP:0011099Spastic hemiparesis2NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA1154228862608667
HP:0001276HP:0001285Spastic tetraparesis2NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA1154228862608667
HP:0001276HP:0002510Spastic tetraplegia2NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA1154228862608667
HP:0001276HP:0002501Spasticity of pharyngeal muscles2NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA1154228862608667
HP:0001276HP:0006986Upper limb spasticity2NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA1154228862608667
HP:0001276HP:0002491Spasticity of facial muscles2NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1154228862608667
HP:0001276HP:0200049Upper limb hypertonia2NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1154228862608667
HP:0001276HP:0006895Lower limb hypertonia2NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1154228862608667
HP:0001276HP:0002396Cogwheel rigidity2NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1154228862608667
HP:0001276HP:0025013Decerebrate rigidity2NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1154228862608667
HP:0001276HP:0011444Decorticate rigidity2NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1154228862608667
HP:0001276HP:0007076Extrapyramidal muscular rigidity2NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1154228862608667
HP:0001276HP:0031866Clasp-knife sign2NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1154228862608667
HP:0001276HP:0002061Lower limb spasticity2NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1154228862608667
HP:0001276HP:0002179Opisthotonus2NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1154228862608667
HP:0001276HP:0002191Progressive spasticity2NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1154228862608667
HP:0001276HP:0001264Spastic diplegia2NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1154228862608667
HP:0001276HP:0002464Spastic dysarthria2NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1154228862608667
HP:0001276HP:0002064Spastic gait2NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1154228862608667
HP:0001276HP:0011099Spastic hemiparesis2NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1154228862608667
HP:0001276HP:0001285Spastic tetraparesis2NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1154228862608667
HP:0001276HP:0002510Spastic tetraplegia2NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1154228862608667
HP:0001276HP:0002501Spasticity of pharyngeal muscles2NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1154228862608667
HP:0001276HP:0006986Upper limb spasticity2NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1154228862608667
HP:0001276HP:0002491Spasticity of facial muscles2OGDH CL E G H496731Serpiginous choroiditisORPHA11718124613022
HP:0001276HP:0200049Upper limb hypertonia2OGDH CL E G H496731Serpiginous choroiditisORPHA11718124613022
HP:0001276HP:0006895Lower limb hypertonia2OGDH CL E G H496731Serpiginous choroiditisORPHA11718124613022
HP:0001276HP:0002396Cogwheel rigidity2OGDH CL E G H496731Serpiginous choroiditisORPHA11718124613022
HP:0001276HP:0025013Decerebrate rigidity2OGDH CL E G H496731Serpiginous choroiditisORPHA11718124613022
HP:0001276HP:0011444Decorticate rigidity2OGDH CL E G H496731Serpiginous choroiditisORPHA11718124613022
HP:0001276HP:0007076Extrapyramidal muscular rigidity2OGDH CL E G H496731Serpiginous choroiditisORPHA11718124613022
HP:0001276HP:0031866Clasp-knife sign2OGDH CL E G H496731Serpiginous choroiditisORPHA11718124613022
HP:0001276HP:0002061Lower limb spasticity2OGDH CL E G H496731Serpiginous choroiditisORPHA11718124613022
HP:0001276HP:0002179Opisthotonus2OGDH CL E G H496731Serpiginous choroiditisORPHA11718124613022
HP:0001276HP:0002191Progressive spasticity2OGDH CL E G H496731Serpiginous choroiditisORPHA11718124613022
HP:0001276HP:0001264Spastic diplegia2OGDH CL E G H496731Serpiginous choroiditisORPHA11718124613022
HP:0001276HP:0002464Spastic dysarthria2OGDH CL E G H496731Serpiginous choroiditisORPHA11718124613022
HP:0001276HP:0002064Spastic gait2OGDH CL E G H496731Serpiginous choroiditisORPHA11718124613022
HP:0001276HP:0011099Spastic hemiparesis2OGDH CL E G H496731Serpiginous choroiditisORPHA11718124613022
HP:0001276HP:0001285Spastic tetraparesis2OGDH CL E G H496731Serpiginous choroiditisORPHA11718124613022
HP:0001276HP:0002510Spastic tetraplegia2OGDH CL E G H496731Serpiginous choroiditisORPHA11718124613022
HP:0001276HP:0002501Spasticity of pharyngeal muscles2OGDH CL E G H496731Serpiginous choroiditisORPHA11718124613022
HP:0001276HP:0006986Upper limb spasticity2OGDH CL E G H496731Serpiginous choroiditisORPHA11718124613022
HP:0001276HP:0002491Spasticity of facial muscles2PAH CL E G H505379254ORPHA114468582612349
HP:0001276HP:0200049Upper limb hypertonia2PAH CL E G H505379254ORPHA114468582612349
HP:0001276HP:0006895Lower limb hypertonia2PAH CL E G H505379254ORPHA114468582612349
HP:0001276HP:0002396Cogwheel rigidity2PAH CL E G H505379254ORPHA114468582612349
HP:0001276HP:0025013Decerebrate rigidity2PAH CL E G H505379254ORPHA114468582612349
HP:0001276HP:0011444Decorticate rigidity2PAH CL E G H505379254ORPHA114468582612349
HP:0001276HP:0007076Extrapyramidal muscular rigidity2PAH CL E G H505379254ORPHA114468582612349
HP:0001276HP:0031866Clasp-knife sign2PAH CL E G H505379254ORPHA114468582612349
HP:0001276HP:0002061Lower limb spasticity2PAH CL E G H505379254ORPHA114468582612349
HP:0001276HP:0002179Opisthotonus2PAH CL E G H505379254ORPHA114468582612349
HP:0001276HP:0002191Progressive spasticity2PAH CL E G H505379254ORPHA114468582612349
HP:0001276HP:0001264Spastic diplegia2PAH CL E G H505379254ORPHA114468582612349
HP:0001276HP:0002464Spastic dysarthria2PAH CL E G H505379254ORPHA114468582612349
HP:0001276HP:0002064Spastic gait2PAH CL E G H505379254ORPHA114468582612349
HP:0001276HP:0011099Spastic hemiparesis2PAH CL E G H505379254ORPHA114468582612349
HP:0001276HP:0001285Spastic tetraparesis2PAH CL E G H505379254ORPHA114468582612349
HP:0001276HP:0002510Spastic tetraplegia2PAH CL E G H505379254ORPHA114468582612349
HP:0001276HP:0002501Spasticity of pharyngeal muscles2PAH CL E G H505379254ORPHA114468582612349
HP:0001276HP:0006986Upper limb spasticity2PAH CL E G H505379254ORPHA114468582612349
HP:0001276HP:0002491Spasticity of facial muscles2PARN CL E G H50733322ORPHA16278609604212
HP:0001276HP:0200049Upper limb hypertonia2PARN CL E G H50733322ORPHA16278609604212
HP:0001276HP:0006895Lower limb hypertonia2PARN CL E G H50733322ORPHA16278609604212
HP:0001276HP:0002396Cogwheel rigidity2PARN CL E G H50733322ORPHA16278609604212
HP:0001276HP:0025013Decerebrate rigidity2PARN CL E G H50733322ORPHA16278609604212
HP:0001276HP:0011444Decorticate rigidity2PARN CL E G H50733322ORPHA16278609604212
HP:0001276HP:0007076Extrapyramidal muscular rigidity2PARN CL E G H50733322ORPHA16278609604212
HP:0001276HP:0031866Clasp-knife sign2PARN CL E G H50733322ORPHA16278609604212
HP:0001276HP:0002061Lower limb spasticity2PARN CL E G H50733322ORPHA16278609604212
HP:0001276HP:0002179Opisthotonus2PARN CL E G H50733322ORPHA16278609604212
HP:0001276HP:0002191Progressive spasticity2PARN CL E G H50733322ORPHA16278609604212
HP:0001276HP:0001264Spastic diplegia2PARN CL E G H50733322ORPHA16278609604212
HP:0001276HP:0002464Spastic dysarthria2PARN CL E G H50733322ORPHA16278609604212
HP:0001276HP:0002064Spastic gait2PARN CL E G H50733322ORPHA16278609604212
HP:0001276HP:0011099Spastic hemiparesis2PARN CL E G H50733322ORPHA16278609604212
HP:0001276HP:0001285Spastic tetraparesis2PARN CL E G H50733322ORPHA16278609604212
HP:0001276HP:0002510Spastic tetraplegia2PARN CL E G H50733322ORPHA16278609604212
HP:0001276HP:0002501Spasticity of pharyngeal muscles2PARN CL E G H50733322ORPHA16278609604212
HP:0001276HP:0006986Upper limb spasticity2PARN CL E G H50733322ORPHA16278609604212
HP:0001276HP:0002491Spasticity of facial muscles2PAX1 CL E G H50752792Hyperbilirubinemia type 1ORPHA13588615167411
HP:0001276HP:0200049Upper limb hypertonia2PAX1 CL E G H50752792Hyperbilirubinemia type 1ORPHA13588615167411
HP:0001276HP:0006895Lower limb hypertonia2PAX1 CL E G H50752792Hyperbilirubinemia type 1ORPHA13588615167411
HP:0001276HP:0002396Cogwheel rigidity2PAX1 CL E G H50752792Hyperbilirubinemia type 1ORPHA13588615167411
HP:0001276HP:0025013Decerebrate rigidity2PAX1 CL E G H50752792Hyperbilirubinemia type 1ORPHA13588615167411
HP:0001276HP:0011444Decorticate rigidity2PAX1 CL E G H50752792Hyperbilirubinemia type 1ORPHA13588615167411
HP:0001276HP:0007076Extrapyramidal muscular rigidity2PAX1 CL E G H50752792Hyperbilirubinemia type 1ORPHA13588615167411
HP:0001276HP:0031866Clasp-knife sign2PAX1 CL E G H50752792Hyperbilirubinemia type 1ORPHA13588615167411
HP:0001276HP:0002061Lower limb spasticity2PAX1 CL E G H50752792Hyperbilirubinemia type 1ORPHA13588615167411
HP:0001276HP:0002179Opisthotonus2PAX1 CL E G H50752792Hyperbilirubinemia type 1ORPHA13588615167411
HP:0001276HP:0002191Progressive spasticity2PAX1 CL E G H50752792Hyperbilirubinemia type 1ORPHA13588615167411
HP:0001276HP:0001264Spastic diplegia2PAX1 CL E G H50752792Hyperbilirubinemia type 1ORPHA13588615167411
HP:0001276HP:0002464Spastic dysarthria2PAX1 CL E G H50752792Hyperbilirubinemia type 1ORPHA13588615167411
HP:0001276HP:0002064Spastic gait2PAX1 CL E G H50752792Hyperbilirubinemia type 1ORPHA13588615167411
HP:0001276HP:0011099Spastic hemiparesis2PAX1 CL E G H50752792Hyperbilirubinemia type 1ORPHA13588615167411
HP:0001276HP:0001285Spastic tetraparesis2PAX1 CL E G H50752792Hyperbilirubinemia type 1ORPHA13588615167411
HP:0001276HP:0002510Spastic tetraplegia2PAX1 CL E G H50752792Hyperbilirubinemia type 1ORPHA13588615167411
HP:0001276HP:0002501Spasticity of pharyngeal muscles2PAX1 CL E G H50752792Hyperbilirubinemia type 1ORPHA13588615167411
HP:0001276HP:0006986Upper limb spasticity2PAX1 CL E G H50752792Hyperbilirubinemia type 1ORPHA13588615167411
HP:0001276HP:0002491Spasticity of facial muscles2PCBD1 CL E G H5092264070Hyperphenylalaninemia, BH4-deficient, D264070C1849700OMIM1918646126090
HP:0001276HP:0200049Upper limb hypertonia2PCBD1 CL E G H5092264070Hyperphenylalaninemia, BH4-deficient, D264070C1849700OMIM1918646126090
HP:0001276HP:0006895Lower limb hypertonia2PCBD1 CL E G H5092264070Hyperphenylalaninemia, BH4-deficient, D264070C1849700OMIM1918646126090
HP:0001276HP:0002396Cogwheel rigidity2PCBD1 CL E G H5092264070Hyperphenylalaninemia, BH4-deficient, D264070C1849700OMIM1918646126090
HP:0001276HP:0025013Decerebrate rigidity2PCBD1 CL E G H5092264070Hyperphenylalaninemia, BH4-deficient, D264070C1849700OMIM1918646126090
HP:0001276HP:0011444Decorticate rigidity2PCBD1 CL E G H5092264070Hyperphenylalaninemia, BH4-deficient, D264070C1849700OMIM1918646126090
HP:0001276HP:0007076Extrapyramidal muscular rigidity2PCBD1 CL E G H5092264070Hyperphenylalaninemia, BH4-deficient, D264070C1849700OMIM1918646126090
HP:0001276HP:0031866Clasp-knife sign2PCBD1 CL E G H5092264070Hyperphenylalaninemia, BH4-deficient, D264070C1849700OMIM1918646126090
HP:0001276HP:0002061Lower limb spasticity2PCBD1 CL E G H5092264070Hyperphenylalaninemia, BH4-deficient, D264070C1849700OMIM1918646126090
HP:0001276HP:0002179Opisthotonus2PCBD1 CL E G H5092264070Hyperphenylalaninemia, BH4-deficient, D264070C1849700OMIM1918646126090
HP:0001276HP:0002191Progressive spasticity2PCBD1 CL E G H5092264070Hyperphenylalaninemia, BH4-deficient, D264070C1849700OMIM1918646126090
HP:0001276HP:0001264Spastic diplegia2PCBD1 CL E G H5092264070Hyperphenylalaninemia, BH4-deficient, D264070C1849700OMIM1918646126090
HP:0001276HP:0002464Spastic dysarthria2PCBD1 CL E G H5092264070Hyperphenylalaninemia, BH4-deficient, D264070C1849700OMIM1918646126090
HP:0001276HP:0002064Spastic gait2PCBD1 CL E G H5092264070Hyperphenylalaninemia, BH4-deficient, D264070C1849700OMIM1918646126090
HP:0001276HP:0011099Spastic hemiparesis2PCBD1 CL E G H5092264070Hyperphenylalaninemia, BH4-deficient, D264070C1849700OMIM1918646126090
HP:0001276HP:0001285Spastic tetraparesis2PCBD1 CL E G H5092264070Hyperphenylalaninemia, BH4-deficient, D264070C1849700OMIM1918646126090
HP:0001276HP:0002510Spastic tetraplegia2PCBD1 CL E G H5092264070Hyperphenylalaninemia, BH4-deficient, D264070C1849700OMIM1918646126090
HP:0001276HP:0002501Spasticity of pharyngeal muscles2PCBD1 CL E G H5092264070Hyperphenylalaninemia, BH4-deficient, D264070C1849700OMIM1918646126090
HP:0001276HP:0006986Upper limb spasticity2PCBD1 CL E G H5092264070Hyperphenylalaninemia, BH4-deficient, D264070C1849700OMIM1918646126090
HP:0001276HP:0002491Spasticity of facial muscles2PIK3CA CL E G H5290144ORPHA111598975171834
HP:0001276HP:0200049Upper limb hypertonia2PIK3CA CL E G H5290144ORPHA111598975171834
HP:0001276HP:0006895Lower limb hypertonia2PIK3CA CL E G H5290144ORPHA111598975171834
HP:0001276HP:0002396Cogwheel rigidity2PIK3CA CL E G H5290144ORPHA111598975171834
HP:0001276HP:0025013Decerebrate rigidity2PIK3CA CL E G H5290144ORPHA111598975171834
HP:0001276HP:0011444Decorticate rigidity2PIK3CA CL E G H5290144ORPHA111598975171834
HP:0001276HP:0007076Extrapyramidal muscular rigidity2PIK3CA CL E G H5290144ORPHA111598975171834
HP:0001276HP:0031866Clasp-knife sign2PIK3CA CL E G H5290144ORPHA111598975171834
HP:0001276HP:0002061Lower limb spasticity2PIK3CA CL E G H5290144ORPHA111598975171834
HP:0001276HP:0002179Opisthotonus2PIK3CA CL E G H5290144ORPHA111598975171834
HP:0001276HP:0002191Progressive spasticity2PIK3CA CL E G H5290144ORPHA111598975171834
HP:0001276HP:0001264Spastic diplegia2PIK3CA CL E G H5290144ORPHA111598975171834
HP:0001276HP:0002464Spastic dysarthria2PIK3CA CL E G H5290144ORPHA111598975171834
HP:0001276HP:0002064Spastic gait2PIK3CA CL E G H5290144ORPHA111598975171834
HP:0001276HP:0011099Spastic hemiparesis2PIK3CA CL E G H5290144ORPHA111598975171834
HP:0001276HP:0001285Spastic tetraparesis2PIK3CA CL E G H5290144ORPHA111598975171834
HP:0001276HP:0002510Spastic tetraplegia2PIK3CA CL E G H5290144ORPHA111598975171834
HP:0001276HP:0002501Spasticity of pharyngeal muscles2PIK3CA CL E G H5290144ORPHA111598975171834
HP:0001276HP:0006986Upper limb spasticity2PIK3CA CL E G H5290144ORPHA111598975171834
HP:0001276HP:0002491Spasticity of facial muscles2PITX3 CL E G H5309610623Cataract 11610623C1864567OMIM1549006602669
HP:0001276HP:0200049Upper limb hypertonia2PITX3 CL E G H5309610623Cataract 11610623C1864567OMIM1549006602669
HP:0001276HP:0006895Lower limb hypertonia2PITX3 CL E G H5309610623Cataract 11610623C1864567OMIM1549006602669
HP:0001276HP:0002396Cogwheel rigidity2PITX3 CL E G H5309610623Cataract 11610623C1864567OMIM1549006602669
HP:0001276HP:0025013Decerebrate rigidity2PITX3 CL E G H5309610623Cataract 11610623C1864567OMIM1549006602669
HP:0001276HP:0011444Decorticate rigidity2PITX3 CL E G H5309610623Cataract 11610623C1864567OMIM1549006602669
HP:0001276HP:0007076Extrapyramidal muscular rigidity2PITX3 CL E G H5309610623Cataract 11610623C1864567OMIM1549006602669
HP:0001276HP:0031866Clasp-knife sign2PITX3 CL E G H5309610623Cataract 11610623C1864567OMIM1549006602669
HP:0001276HP:0002061Lower limb spasticity2PITX3 CL E G H5309610623Cataract 11610623C1864567OMIM1549006602669
HP:0001276HP:0002179Opisthotonus2PITX3 CL E G H5309610623Cataract 11610623C1864567OMIM1549006602669
HP:0001276HP:0002191Progressive spasticity2PITX3 CL E G H5309610623Cataract 11610623C1864567OMIM1549006602669
HP:0001276HP:0001264Spastic diplegia2PITX3 CL E G H5309610623Cataract 11610623C1864567OMIM1549006602669
HP:0001276HP:0002464Spastic dysarthria2PITX3 CL E G H5309610623Cataract 11610623C1864567OMIM1549006602669
HP:0001276HP:0002064Spastic gait2PITX3 CL E G H5309610623Cataract 11610623C1864567OMIM1549006602669
HP:0001276HP:0011099Spastic hemiparesis2PITX3 CL E G H5309610623Cataract 11610623C1864567OMIM1549006602669
HP:0001276HP:0001285Spastic tetraparesis2PITX3 CL E G H5309610623Cataract 11610623C1864567OMIM1549006602669
HP:0001276HP:0002510Spastic tetraplegia2PITX3 CL E G H5309610623Cataract 11610623C1864567OMIM1549006602669
HP:0001276HP:0002501Spasticity of pharyngeal muscles2PITX3 CL E G H5309610623Cataract 11610623C1864567OMIM1549006602669
HP:0001276HP:0006986Upper limb spasticity2PITX3 CL E G H5309610623Cataract 11610623C1864567OMIM1549006602669
HP:0001276HP:0002491Spasticity of facial muscles2PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001276HP:0200049Upper limb hypertonia2PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001276HP:0006895Lower limb hypertonia2PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001276HP:0002396Cogwheel rigidity2PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001276HP:0025013Decerebrate rigidity2PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001276HP:0011444Decorticate rigidity2PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001276HP:0007076Extrapyramidal muscular rigidity2PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001276HP:0031866Clasp-knife sign2PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001276HP:0002061Lower limb spasticity2PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001276HP:0002179Opisthotonus2PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001276HP:0002191Progressive spasticity2PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001276HP:0001264Spastic diplegia2PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001276HP:0002464Spastic dysarthria2PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001276HP:0002064Spastic gait2PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001276HP:0011099Spastic hemiparesis2PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001276HP:0001285Spastic tetraparesis2PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001276HP:0002510Spastic tetraplegia2PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001276HP:0002501Spasticity of pharyngeal muscles2PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001276HP:0006986Upper limb spasticity2PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001276HP:0002491Spasticity of facial muscles2PLAA CL E G H9373617527NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES617527C4479631OMIM15059043603873
HP:0001276HP:0200049Upper limb hypertonia2PLAA CL E G H9373617527NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES617527C4479631OMIM15059043603873
HP:0001276HP:0006895Lower limb hypertonia2PLAA CL E G H9373617527NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES617527C4479631OMIM15059043603873
HP:0001276HP:0002396Cogwheel rigidity2PLAA CL E G H9373617527NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES617527C4479631OMIM15059043603873
HP:0001276HP:0025013Decerebrate rigidity2PLAA CL E G H9373617527NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES617527C4479631OMIM15059043603873
HP:0001276HP:0011444Decorticate rigidity2PLAA CL E G H9373617527NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES617527C4479631OMIM15059043603873
HP:0001276HP:0007076Extrapyramidal muscular rigidity2PLAA CL E G H9373617527NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES617527C4479631OMIM15059043603873
HP:0001276HP:0031866Clasp-knife sign2PLAA CL E G H9373617527NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES617527C4479631OMIM15059043603873
HP:0001276HP:0002061Lower limb spasticity2PLAA CL E G H9373617527NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES617527C4479631OMIM15059043603873
HP:0001276HP:0002179Opisthotonus2PLAA CL E G H9373617527NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES617527C4479631OMIM15059043603873
HP:0001276HP:0002191Progressive spasticity2PLAA CL E G H9373617527NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES617527C4479631OMIM15059043603873
HP:0001276HP:0001264Spastic diplegia2PLAA CL E G H9373617527NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES617527C4479631OMIM15059043603873
HP:0001276HP:0002464Spastic dysarthria2PLAA CL E G H9373617527NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES617527C4479631OMIM15059043603873
HP:0001276HP:0002064Spastic gait2PLAA CL E G H9373617527NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES617527C4479631OMIM15059043603873
HP:0001276HP:0011099Spastic hemiparesis2PLAA CL E G H9373617527NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES617527C4479631OMIM15059043603873
HP:0001276HP:0001285Spastic tetraparesis2PLAA CL E G H9373617527NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES617527C4479631OMIM15059043603873
HP:0001276HP:0002510Spastic tetraplegia2PLAA CL E G H9373617527NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES617527C4479631OMIM15059043603873
HP:0001276HP:0002501Spasticity of pharyngeal muscles2PLAA CL E G H9373617527NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES617527C4479631OMIM15059043603873
HP:0001276HP:0006986Upper limb spasticity2PLAA CL E G H9373617527NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES617527C4479631OMIM15059043603873
HP:0001276HP:0002491Spasticity of facial muscles2PLK4 CL E G H107332518ORPHA156811397605031
HP:0001276HP:0200049Upper limb hypertonia2PLK4 CL E G H107332518ORPHA156811397605031
HP:0001276HP:0006895Lower limb hypertonia2PLK4 CL E G H107332518ORPHA156811397605031
HP:0001276HP:0002396Cogwheel rigidity2PLK4 CL E G H107332518ORPHA156811397605031
HP:0001276HP:0025013Decerebrate rigidity2PLK4 CL E G H107332518ORPHA156811397605031
HP:0001276HP:0011444Decorticate rigidity2PLK4 CL E G H107332518ORPHA156811397605031
HP:0001276HP:0007076Extrapyramidal muscular rigidity2PLK4 CL E G H107332518ORPHA156811397605031
HP:0001276HP:0031866Clasp-knife sign2PLK4 CL E G H107332518ORPHA156811397605031
HP:0001276HP:0002061Lower limb spasticity2PLK4 CL E G H107332518ORPHA156811397605031
HP:0001276HP:0002179Opisthotonus2PLK4 CL E G H107332518ORPHA156811397605031
HP:0001276HP:0002191Progressive spasticity2PLK4 CL E G H107332518ORPHA156811397605031
HP:0001276HP:0001264Spastic diplegia2PLK4 CL E G H107332518ORPHA156811397605031
HP:0001276HP:0002464Spastic dysarthria2PLK4 CL E G H107332518ORPHA156811397605031
HP:0001276HP:0002064Spastic gait2PLK4 CL E G H107332518ORPHA156811397605031
HP:0001276HP:0011099Spastic hemiparesis2PLK4 CL E G H107332518ORPHA156811397605031
HP:0001276HP:0001285Spastic tetraparesis2PLK4 CL E G H107332518ORPHA156811397605031
HP:0001276HP:0002510Spastic tetraplegia2PLK4 CL E G H107332518ORPHA156811397605031
HP:0001276HP:0002501Spasticity of pharyngeal muscles2PLK4 CL E G H107332518ORPHA156811397605031
HP:0001276HP:0006986Upper limb spasticity2PLK4 CL E G H107332518ORPHA156811397605031
HP:0001276HP:0002491Spasticity of facial muscles2PLPBP CL E G H11212617290Epilepsy, early-onset, vitamin b6-dependent617290C4310632OMIM12429457604436
HP:0001276HP:0200049Upper limb hypertonia2PLPBP CL E G H11212617290Epilepsy, early-onset, vitamin b6-dependent617290C4310632OMIM12429457604436
HP:0001276HP:0006895Lower limb hypertonia2PLPBP CL E G H11212617290Epilepsy, early-onset, vitamin b6-dependent617290C4310632OMIM12429457604436
HP:0001276HP:0002396Cogwheel rigidity2PLPBP CL E G H11212617290Epilepsy, early-onset, vitamin b6-dependent617290C4310632OMIM12429457604436
HP:0001276HP:0025013Decerebrate rigidity2PLPBP CL E G H11212617290Epilepsy, early-onset, vitamin b6-dependent617290C4310632OMIM12429457604436
HP:0001276HP:0011444Decorticate rigidity2PLPBP CL E G H11212617290Epilepsy, early-onset, vitamin b6-dependent617290C4310632OMIM12429457604436
HP:0001276HP:0007076Extrapyramidal muscular rigidity2PLPBP CL E G H11212617290Epilepsy, early-onset, vitamin b6-dependent617290C4310632OMIM12429457604436
HP:0001276HP:0031866Clasp-knife sign2PLPBP CL E G H11212617290Epilepsy, early-onset, vitamin b6-dependent617290C4310632OMIM12429457604436
HP:0001276HP:0002061Lower limb spasticity2PLPBP CL E G H11212617290Epilepsy, early-onset, vitamin b6-dependent617290C4310632OMIM12429457604436
HP:0001276HP:0002179Opisthotonus2PLPBP CL E G H11212617290Epilepsy, early-onset, vitamin b6-dependent617290C4310632OMIM12429457604436
HP:0001276HP:0002191Progressive spasticity2PLPBP CL E G H11212617290Epilepsy, early-onset, vitamin b6-dependent617290C4310632OMIM12429457604436
HP:0001276HP:0001264Spastic diplegia2PLPBP CL E G H11212617290Epilepsy, early-onset, vitamin b6-dependent617290C4310632OMIM12429457604436
HP:0001276HP:0002464Spastic dysarthria2PLPBP CL E G H11212617290Epilepsy, early-onset, vitamin b6-dependent617290C4310632OMIM12429457604436
HP:0001276HP:0002064Spastic gait2PLPBP CL E G H11212617290Epilepsy, early-onset, vitamin b6-dependent617290C4310632OMIM12429457604436
HP:0001276HP:0011099Spastic hemiparesis2PLPBP CL E G H11212617290Epilepsy, early-onset, vitamin b6-dependent617290C4310632OMIM12429457604436
HP:0001276HP:0001285Spastic tetraparesis2PLPBP CL E G H11212617290Epilepsy, early-onset, vitamin b6-dependent617290C4310632OMIM12429457604436
HP:0001276HP:0002510Spastic tetraplegia2PLPBP CL E G H11212617290Epilepsy, early-onset, vitamin b6-dependent617290C4310632OMIM12429457604436
HP:0001276HP:0002501Spasticity of pharyngeal muscles2PLPBP CL E G H11212617290Epilepsy, early-onset, vitamin b6-dependent617290C4310632OMIM12429457604436
HP:0001276HP:0006986Upper limb spasticity2PLPBP CL E G H11212617290Epilepsy, early-onset, vitamin b6-dependent617290C4310632OMIM12429457604436
HP:0001276HP:0002491Spasticity of facial muscles2PMS1 CL E G H5378144ORPHA11259121600258
HP:0001276HP:0200049Upper limb hypertonia2PMS1 CL E G H5378144ORPHA11259121600258
HP:0001276HP:0006895Lower limb hypertonia2PMS1 CL E G H5378144ORPHA11259121600258
HP:0001276HP:0002396Cogwheel rigidity2PMS1 CL E G H5378144ORPHA11259121600258
HP:0001276HP:0025013Decerebrate rigidity2PMS1 CL E G H5378144ORPHA11259121600258
HP:0001276HP:0011444Decorticate rigidity2PMS1 CL E G H5378144ORPHA11259121600258
HP:0001276HP:0007076Extrapyramidal muscular rigidity2PMS1 CL E G H5378144ORPHA11259121600258
HP:0001276HP:0031866Clasp-knife sign2PMS1 CL E G H5378144ORPHA11259121600258
HP:0001276HP:0002061Lower limb spasticity2PMS1 CL E G H5378144ORPHA11259121600258
HP:0001276HP:0002179Opisthotonus2PMS1 CL E G H5378144ORPHA11259121600258
HP:0001276HP:0002191Progressive spasticity2PMS1 CL E G H5378144ORPHA11259121600258
HP:0001276HP:0001264Spastic diplegia2PMS1 CL E G H5378144ORPHA11259121600258
HP:0001276HP:0002464Spastic dysarthria2PMS1 CL E G H5378144ORPHA11259121600258
HP:0001276HP:0002064Spastic gait2PMS1 CL E G H5378144ORPHA11259121600258
HP:0001276HP:0011099Spastic hemiparesis2PMS1 CL E G H5378144ORPHA11259121600258
HP:0001276HP:0001285Spastic tetraparesis2PMS1 CL E G H5378144ORPHA11259121600258
HP:0001276HP:0002510Spastic tetraplegia2PMS1 CL E G H5378144ORPHA11259121600258
HP:0001276HP:0002501Spasticity of pharyngeal muscles2PMS1 CL E G H5378144ORPHA11259121600258
HP:0001276HP:0006986Upper limb spasticity2PMS1 CL E G H5378144ORPHA11259121600258
HP:0001276HP:0002491Spasticity of facial muscles2PMS2 CL E G H5395144ORPHA147199122600259
HP:0001276HP:0200049Upper limb hypertonia2PMS2 CL E G H5395144ORPHA147199122600259
HP:0001276HP:0006895Lower limb hypertonia2PMS2 CL E G H5395144ORPHA147199122600259
HP:0001276HP:0002396Cogwheel rigidity2PMS2 CL E G H5395144ORPHA147199122600259
HP:0001276HP:0025013Decerebrate rigidity2PMS2 CL E G H5395144ORPHA147199122600259
HP:0001276HP:0011444Decorticate rigidity2PMS2 CL E G H5395144ORPHA147199122600259
HP:0001276HP:0007076Extrapyramidal muscular rigidity2PMS2 CL E G H5395144ORPHA147199122600259
HP:0001276HP:0031866Clasp-knife sign2PMS2 CL E G H5395144ORPHA147199122600259
HP:0001276HP:0002061Lower limb spasticity2PMS2 CL E G H5395144ORPHA147199122600259
HP:0001276HP:0002179Opisthotonus2PMS2 CL E G H5395144ORPHA147199122600259
HP:0001276HP:0002191Progressive spasticity2PMS2 CL E G H5395144ORPHA147199122600259
HP:0001276HP:0001264Spastic diplegia2PMS2 CL E G H5395144ORPHA147199122600259
HP:0001276HP:0002464Spastic dysarthria2PMS2 CL E G H5395144ORPHA147199122600259
HP:0001276HP:0002064Spastic gait2PMS2 CL E G H5395144ORPHA147199122600259
HP:0001276HP:0011099Spastic hemiparesis2PMS2 CL E G H5395144ORPHA147199122600259
HP:0001276HP:0001285Spastic tetraparesis2PMS2 CL E G H5395144ORPHA147199122600259
HP:0001276HP:0002510Spastic tetraplegia2PMS2 CL E G H5395144ORPHA147199122600259
HP:0001276HP:0002501Spasticity of pharyngeal muscles2PMS2 CL E G H5395144ORPHA147199122600259
HP:0001276HP:0006986Upper limb spasticity2PMS2 CL E G H5395144ORPHA147199122600259
HP:0001276HP:0002491Spasticity of facial muscles2PNPO CL E G H5516379096ORPHA131730260603287
HP:0001276HP:0200049Upper limb hypertonia2PNPO CL E G H5516379096ORPHA131730260603287
HP:0001276HP:0006895Lower limb hypertonia2PNPO CL E G H5516379096ORPHA131730260603287
HP:0001276HP:0002396Cogwheel rigidity2PNPO CL E G H5516379096ORPHA131730260603287
HP:0001276HP:0025013Decerebrate rigidity2PNPO CL E G H5516379096ORPHA131730260603287
HP:0001276HP:0011444Decorticate rigidity2PNPO CL E G H5516379096ORPHA131730260603287
HP:0001276HP:0007076Extrapyramidal muscular rigidity2PNPO CL E G H5516379096ORPHA131730260603287
HP:0001276HP:0031866Clasp-knife sign2PNPO CL E G H5516379096ORPHA131730260603287
HP:0001276HP:0002061Lower limb spasticity2PNPO CL E G H5516379096ORPHA131730260603287
HP:0001276HP:0002179Opisthotonus2PNPO CL E G H5516379096ORPHA131730260603287
HP:0001276HP:0002191Progressive spasticity2PNPO CL E G H5516379096ORPHA131730260603287
HP:0001276HP:0001264Spastic diplegia2PNPO CL E G H5516379096ORPHA131730260603287
HP:0001276HP:0002464Spastic dysarthria2PNPO CL E G H5516379096ORPHA131730260603287
HP:0001276HP:0002064Spastic gait2PNPO CL E G H5516379096ORPHA131730260603287
HP:0001276HP:0011099Spastic hemiparesis2PNPO CL E G H5516379096ORPHA131730260603287
HP:0001276HP:0001285Spastic tetraparesis2PNPO CL E G H5516379096ORPHA131730260603287
HP:0001276HP:0002510Spastic tetraplegia2PNPO CL E G H5516379096ORPHA131730260603287
HP:0001276HP:0002501Spasticity of pharyngeal muscles2PNPO CL E G H5516379096ORPHA131730260603287
HP:0001276HP:0006986Upper limb spasticity2PNPO CL E G H5516379096ORPHA131730260603287
HP:0001276HP:0002491Spasticity of facial muscles2PNPO CL E G H55163610090Pyridoxal 5'-phosphate-dependent epilepsy610090C1864723OMIM131730260603287
HP:0001276HP:0200049Upper limb hypertonia2PNPO CL E G H55163610090Pyridoxal 5'-phosphate-dependent epilepsy610090C1864723OMIM131730260603287
HP:0001276HP:0006895Lower limb hypertonia2PNPO CL E G H55163610090Pyridoxal 5'-phosphate-dependent epilepsy610090C1864723OMIM131730260603287
HP:0001276HP:0002396Cogwheel rigidity2PNPO CL E G H55163610090Pyridoxal 5'-phosphate-dependent epilepsy610090C1864723OMIM131730260603287
HP:0001276HP:0025013Decerebrate rigidity2PNPO CL E G H55163610090Pyridoxal 5'-phosphate-dependent epilepsy610090C1864723OMIM131730260603287
HP:0001276HP:0011444Decorticate rigidity2PNPO CL E G H55163610090Pyridoxal 5'-phosphate-dependent epilepsy610090C1864723OMIM131730260603287
HP:0001276HP:0007076Extrapyramidal muscular rigidity2PNPO CL E G H55163610090Pyridoxal 5'-phosphate-dependent epilepsy610090C1864723OMIM131730260603287
HP:0001276HP:0031866Clasp-knife sign2PNPO CL E G H55163610090Pyridoxal 5'-phosphate-dependent epilepsy610090C1864723OMIM131730260603287
HP:0001276HP:0002061Lower limb spasticity2PNPO CL E G H55163610090Pyridoxal 5'-phosphate-dependent epilepsy610090C1864723OMIM131730260603287
HP:0001276HP:0002179Opisthotonus2PNPO CL E G H55163610090Pyridoxal 5'-phosphate-dependent epilepsy610090C1864723OMIM131730260603287
HP:0001276HP:0002191Progressive spasticity2PNPO CL E G H55163610090Pyridoxal 5'-phosphate-dependent epilepsy610090C1864723OMIM131730260603287
HP:0001276HP:0001264Spastic diplegia2PNPO CL E G H55163610090Pyridoxal 5'-phosphate-dependent epilepsy610090C1864723OMIM131730260603287
HP:0001276HP:0002464Spastic dysarthria2PNPO CL E G H55163610090Pyridoxal 5'-phosphate-dependent epilepsy610090C1864723OMIM131730260603287
HP:0001276HP:0002064Spastic gait2PNPO CL E G H55163610090Pyridoxal 5'-phosphate-dependent epilepsy610090C1864723OMIM131730260603287
HP:0001276HP:0011099Spastic hemiparesis2PNPO CL E G H55163610090Pyridoxal 5'-phosphate-dependent epilepsy610090C1864723OMIM131730260603287
HP:0001276HP:0001285Spastic tetraparesis2PNPO CL E G H55163610090Pyridoxal 5'-phosphate-dependent epilepsy610090C1864723OMIM131730260603287
HP:0001276HP:0002510Spastic tetraplegia2PNPO CL E G H55163610090Pyridoxal 5'-phosphate-dependent epilepsy610090C1864723OMIM131730260603287
HP:0001276HP:0002501Spasticity of pharyngeal muscles2PNPO CL E G H55163610090Pyridoxal 5'-phosphate-dependent epilepsy610090C1864723OMIM131730260603287
HP:0001276HP:0006986Upper limb spasticity2PNPO CL E G H55163610090Pyridoxal 5'-phosphate-dependent epilepsy610090C1864723OMIM131730260603287
HP:0001276HP:0002491Spasticity of facial muscles2POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM123249179174763
HP:0001276HP:0200049Upper limb hypertonia2POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM123249179174763
HP:0001276HP:0006895Lower limb hypertonia2POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM123249179174763
HP:0001276HP:0002396Cogwheel rigidity2POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM123249179174763
HP:0001276HP:0025013Decerebrate rigidity2POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM123249179174763
HP:0001276HP:0011444Decorticate rigidity2POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM123249179174763
HP:0001276HP:0007076Extrapyramidal muscular rigidity2POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM123249179174763
HP:0001276HP:0031866Clasp-knife sign2POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM123249179174763
HP:0001276HP:0002061Lower limb spasticity2POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM123249179174763
HP:0001276HP:0002179Opisthotonus2POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM123249179174763
HP:0001276HP:0002191Progressive spasticity2POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM123249179174763
HP:0001276HP:0001264Spastic diplegia2POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM123249179174763
HP:0001276HP:0002464Spastic dysarthria2POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM123249179174763
HP:0001276HP:0002064Spastic gait2POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM123249179174763
HP:0001276HP:0011099Spastic hemiparesis2POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM123249179174763
HP:0001276HP:0001285Spastic tetraparesis2POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM123249179174763
HP:0001276HP:0002510Spastic tetraplegia2POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM123249179174763
HP:0001276HP:0002501Spasticity of pharyngeal muscles2POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM123249179174763
HP:0001276HP:0006986Upper limb spasticity2POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM123249179174763
HP:0001276HP:0002491Spasticity of facial muscles2POMGNT1 CL E G H55624588ORPHA1117419139606822
HP:0001276HP:0200049Upper limb hypertonia2POMGNT1 CL E G H55624588ORPHA1117419139606822
HP:0001276HP:0006895Lower limb hypertonia2POMGNT1 CL E G H55624588ORPHA1117419139606822
HP:0001276HP:0002396Cogwheel rigidity2POMGNT1 CL E G H55624588ORPHA1117419139606822
HP:0001276HP:0025013Decerebrate rigidity2POMGNT1 CL E G H55624588ORPHA1117419139606822
HP:0001276HP:0011444Decorticate rigidity2POMGNT1 CL E G H55624588ORPHA1117419139606822
HP:0001276HP:0007076Extrapyramidal muscular rigidity2POMGNT1 CL E G H55624588ORPHA1117419139606822
HP:0001276HP:0031866Clasp-knife sign2POMGNT1 CL E G H55624588ORPHA1117419139606822
HP:0001276HP:0002061Lower limb spasticity2POMGNT1 CL E G H55624588ORPHA1117419139606822
HP:0001276HP:0002179Opisthotonus2POMGNT1 CL E G H55624588ORPHA1117419139606822
HP:0001276HP:0002191Progressive spasticity2POMGNT1 CL E G H55624588ORPHA1117419139606822
HP:0001276HP:0001264Spastic diplegia2POMGNT1 CL E G H55624588ORPHA1117419139606822
HP:0001276HP:0002464Spastic dysarthria2POMGNT1 CL E G H55624588ORPHA1117419139606822
HP:0001276HP:0002064Spastic gait2POMGNT1 CL E G H55624588ORPHA1117419139606822
HP:0001276HP:0011099Spastic hemiparesis2POMGNT1 CL E G H55624588ORPHA1117419139606822
HP:0001276HP:0001285Spastic tetraparesis2POMGNT1 CL E G H55624588ORPHA1117419139606822
HP:0001276HP:0002510Spastic tetraplegia2POMGNT1 CL E G H55624588ORPHA1117419139606822
HP:0001276HP:0002501Spasticity of pharyngeal muscles2POMGNT1 CL E G H55624588ORPHA1117419139606822
HP:0001276HP:0006986Upper limb spasticity2POMGNT1 CL E G H55624588ORPHA1117419139606822
HP:0001276HP:0002491Spasticity of facial muscles2POMT1 CL E G H10585588ORPHA19069202607423
HP:0001276HP:0200049Upper limb hypertonia2POMT1 CL E G H10585588ORPHA19069202607423
HP:0001276HP:0006895Lower limb hypertonia2POMT1 CL E G H10585588ORPHA19069202607423
HP:0001276HP:0002396Cogwheel rigidity2POMT1 CL E G H10585588ORPHA19069202607423
HP:0001276HP:0025013Decerebrate rigidity2POMT1 CL E G H10585588ORPHA19069202607423
HP:0001276HP:0011444Decorticate rigidity2POMT1 CL E G H10585588ORPHA19069202607423
HP:0001276HP:0007076Extrapyramidal muscular rigidity2POMT1 CL E G H10585588ORPHA19069202607423
HP:0001276HP:0031866Clasp-knife sign2POMT1 CL E G H10585588ORPHA19069202607423
HP:0001276HP:0002061Lower limb spasticity2POMT1 CL E G H10585588ORPHA19069202607423
HP:0001276HP:0002179Opisthotonus2POMT1 CL E G H10585588ORPHA19069202607423
HP:0001276HP:0002191Progressive spasticity2POMT1 CL E G H10585588ORPHA19069202607423
HP:0001276HP:0001264Spastic diplegia2POMT1 CL E G H10585588ORPHA19069202607423
HP:0001276HP:0002464Spastic dysarthria2POMT1 CL E G H10585588ORPHA19069202607423
HP:0001276HP:0002064Spastic gait2POMT1 CL E G H10585588ORPHA19069202607423
HP:0001276HP:0011099Spastic hemiparesis2POMT1 CL E G H10585588ORPHA19069202607423
HP:0001276HP:0001285Spastic tetraparesis2POMT1 CL E G H10585588ORPHA19069202607423
HP:0001276HP:0002510Spastic tetraplegia2POMT1 CL E G H10585588ORPHA19069202607423
HP:0001276HP:0002501Spasticity of pharyngeal muscles2POMT1 CL E G H10585588ORPHA19069202607423
HP:0001276HP:0006986Upper limb spasticity2POMT1 CL E G H10585588ORPHA19069202607423
HP:0001276HP:0002491Spasticity of facial muscles2POMT2 CL E G H29954588ORPHA193619743607439
HP:0001276HP:0200049Upper limb hypertonia2POMT2 CL E G H29954588ORPHA193619743607439
HP:0001276HP:0006895Lower limb hypertonia2POMT2 CL E G H29954588ORPHA193619743607439
HP:0001276HP:0002396Cogwheel rigidity2POMT2 CL E G H29954588ORPHA193619743607439
HP:0001276HP:0025013Decerebrate rigidity2POMT2 CL E G H29954588ORPHA193619743607439
HP:0001276HP:0011444Decorticate rigidity2POMT2 CL E G H29954588ORPHA193619743607439
HP:0001276HP:0007076Extrapyramidal muscular rigidity2POMT2 CL E G H29954588ORPHA193619743607439
HP:0001276HP:0031866Clasp-knife sign2POMT2 CL E G H29954588ORPHA193619743607439
HP:0001276HP:0002061Lower limb spasticity2POMT2 CL E G H29954588ORPHA193619743607439
HP:0001276HP:0002179Opisthotonus2POMT2 CL E G H29954588ORPHA193619743607439
HP:0001276HP:0002191Progressive spasticity2POMT2 CL E G H29954588ORPHA193619743607439
HP:0001276HP:0001264Spastic diplegia2POMT2 CL E G H29954588ORPHA193619743607439
HP:0001276HP:0002464Spastic dysarthria2POMT2 CL E G H29954588ORPHA193619743607439
HP:0001276HP:0002064Spastic gait2POMT2 CL E G H29954588ORPHA193619743607439
HP:0001276HP:0011099Spastic hemiparesis2POMT2 CL E G H29954588ORPHA193619743607439
HP:0001276HP:0001285Spastic tetraparesis2POMT2 CL E G H29954588ORPHA193619743607439
HP:0001276HP:0002510Spastic tetraplegia2POMT2 CL E G H29954588ORPHA193619743607439
HP:0001276HP:0002501Spasticity of pharyngeal muscles2POMT2 CL E G H29954588ORPHA193619743607439
HP:0001276HP:0006986Upper limb spasticity2POMT2 CL E G H29954588ORPHA193619743607439
HP:0001276HP:0002491Spasticity of facial muscles2PRF1 CL E G H5551603553Hemophagocytic lymphohistiocytosis, familial, 2603553C1863727OMIM15059360170280
HP:0001276HP:0200049Upper limb hypertonia2PRF1 CL E G H5551603553Hemophagocytic lymphohistiocytosis, familial, 2603553C1863727OMIM15059360170280
HP:0001276HP:0006895Lower limb hypertonia2PRF1 CL E G H5551603553Hemophagocytic lymphohistiocytosis, familial, 2603553C1863727OMIM15059360170280
HP:0001276HP:0002396Cogwheel rigidity2PRF1 CL E G H5551603553Hemophagocytic lymphohistiocytosis, familial, 2603553C1863727OMIM15059360170280
HP:0001276HP:0025013Decerebrate rigidity2PRF1 CL E G H5551603553Hemophagocytic lymphohistiocytosis, familial, 2603553C1863727OMIM15059360170280
HP:0001276HP:0011444Decorticate rigidity2PRF1 CL E G H5551603553Hemophagocytic lymphohistiocytosis, familial, 2603553C1863727OMIM15059360170280
HP:0001276HP:0007076Extrapyramidal muscular rigidity2PRF1 CL E G H5551603553Hemophagocytic lymphohistiocytosis, familial, 2603553C1863727OMIM15059360170280
HP:0001276HP:0031866Clasp-knife sign2PRF1 CL E G H5551603553Hemophagocytic lymphohistiocytosis, familial, 2603553C1863727OMIM15059360170280
HP:0001276HP:0002061Lower limb spasticity2PRF1 CL E G H5551603553Hemophagocytic lymphohistiocytosis, familial, 2603553C1863727OMIM15059360170280
HP:0001276HP:0002179Opisthotonus2PRF1 CL E G H5551603553Hemophagocytic lymphohistiocytosis, familial, 2603553C1863727OMIM15059360170280
HP:0001276HP:0002191Progressive spasticity2PRF1 CL E G H5551603553Hemophagocytic lymphohistiocytosis, familial, 2603553C1863727OMIM15059360170280
HP:0001276HP:0001264Spastic diplegia2PRF1 CL E G H5551603553Hemophagocytic lymphohistiocytosis, familial, 2603553C1863727OMIM15059360170280
HP:0001276HP:0002464Spastic dysarthria2PRF1 CL E G H5551603553Hemophagocytic lymphohistiocytosis, familial, 2603553C1863727OMIM15059360170280
HP:0001276HP:0002064Spastic gait2PRF1 CL E G H5551603553Hemophagocytic lymphohistiocytosis, familial, 2603553C1863727OMIM15059360170280
HP:0001276HP:0011099Spastic hemiparesis2PRF1 CL E G H5551603553Hemophagocytic lymphohistiocytosis, familial, 2603553C1863727OMIM15059360170280
HP:0001276HP:0001285Spastic tetraparesis2PRF1 CL E G H5551603553Hemophagocytic lymphohistiocytosis, familial, 2603553C1863727OMIM15059360170280
HP:0001276HP:0002510Spastic tetraplegia2PRF1 CL E G H5551603553Hemophagocytic lymphohistiocytosis, familial, 2603553C1863727OMIM15059360170280
HP:0001276HP:0002501Spasticity of pharyngeal muscles2PRF1 CL E G H5551603553Hemophagocytic lymphohistiocytosis, familial, 2603553C1863727OMIM15059360170280
HP:0001276HP:0006986Upper limb spasticity2PRF1 CL E G H5551603553Hemophagocytic lymphohistiocytosis, familial, 2603553C1863727OMIM15059360170280
HP:0001276HP:0002491Spasticity of facial muscles2PRRT2 CL E G H112476306ORPHA179930500614386
HP:0001276HP:0200049Upper limb hypertonia2PRRT2 CL E G H112476306ORPHA179930500614386
HP:0001276HP:0006895Lower limb hypertonia2PRRT2 CL E G H112476306ORPHA179930500614386
HP:0001276HP:0002396Cogwheel rigidity2PRRT2 CL E G H112476306ORPHA179930500614386
HP:0001276HP:0025013Decerebrate rigidity2PRRT2 CL E G H112476306ORPHA179930500614386
HP:0001276HP:0011444Decorticate rigidity2PRRT2 CL E G H112476306ORPHA179930500614386
HP:0001276HP:0007076Extrapyramidal muscular rigidity2PRRT2 CL E G H112476306ORPHA179930500614386
HP:0001276HP:0031866Clasp-knife sign2PRRT2 CL E G H112476306ORPHA179930500614386
HP:0001276HP:0002061Lower limb spasticity2PRRT2 CL E G H112476306ORPHA179930500614386
HP:0001276HP:0002179Opisthotonus2PRRT2 CL E G H112476306ORPHA179930500614386
HP:0001276HP:0002191Progressive spasticity2PRRT2 CL E G H112476306ORPHA179930500614386
HP:0001276HP:0001264Spastic diplegia2PRRT2 CL E G H112476306ORPHA179930500614386
HP:0001276HP:0002464Spastic dysarthria2PRRT2 CL E G H112476306ORPHA179930500614386
HP:0001276HP:0002064Spastic gait2PRRT2 CL E G H112476306ORPHA179930500614386
HP:0001276HP:0011099Spastic hemiparesis2PRRT2 CL E G H112476306ORPHA179930500614386
HP:0001276HP:0001285Spastic tetraparesis2PRRT2 CL E G H112476306ORPHA179930500614386
HP:0001276HP:0002510Spastic tetraplegia2PRRT2 CL E G H112476306ORPHA179930500614386
HP:0001276HP:0002501Spasticity of pharyngeal muscles2PRRT2 CL E G H112476306ORPHA179930500614386
HP:0001276HP:0006986Upper limb spasticity2PRRT2 CL E G H112476306ORPHA179930500614386
HP:0001276HP:0002491Spasticity of facial muscles2PSAP CL E G H5660611722Krabbe disease atypical due to Saposin A deficiency611722C2673266OMIM17729498176801
HP:0001276HP:0200049Upper limb hypertonia2PSAP CL E G H5660611722Krabbe disease atypical due to Saposin A deficiency611722C2673266OMIM17729498176801
HP:0001276HP:0006895Lower limb hypertonia2PSAP CL E G H5660611722Krabbe disease atypical due to Saposin A deficiency611722C2673266OMIM17729498176801
HP:0001276HP:0002396Cogwheel rigidity2PSAP CL E G H5660611722Krabbe disease atypical due to Saposin A deficiency611722C2673266OMIM17729498176801
HP:0001276HP:0025013Decerebrate rigidity2PSAP CL E G H5660611722Krabbe disease atypical due to Saposin A deficiency611722C2673266OMIM17729498176801
HP:0001276HP:0011444Decorticate rigidity2PSAP CL E G H5660611722Krabbe disease atypical due to Saposin A deficiency611722C2673266OMIM17729498176801
HP:0001276HP:0007076Extrapyramidal muscular rigidity2PSAP CL E G H5660611722Krabbe disease atypical due to Saposin A deficiency611722C2673266OMIM17729498176801
HP:0001276HP:0031866Clasp-knife sign2PSAP CL E G H5660611722Krabbe disease atypical due to Saposin A deficiency611722C2673266OMIM17729498176801
HP:0001276HP:0002061Lower limb spasticity2PSAP CL E G H5660611722Krabbe disease atypical due to Saposin A deficiency611722C2673266OMIM17729498176801
HP:0001276HP:0002179Opisthotonus2PSAP CL E G H5660611722Krabbe disease atypical due to Saposin A deficiency611722C2673266OMIM17729498176801
HP:0001276HP:0002191Progressive spasticity2PSAP CL E G H5660611722Krabbe disease atypical due to Saposin A deficiency611722C2673266OMIM17729498176801
HP:0001276HP:0001264Spastic diplegia2PSAP CL E G H5660611722Krabbe disease atypical due to Saposin A deficiency611722C2673266OMIM17729498176801
HP:0001276HP:0002464Spastic dysarthria2PSAP CL E G H5660611722Krabbe disease atypical due to Saposin A deficiency611722C2673266OMIM17729498176801
HP:0001276HP:0002064Spastic gait2PSAP CL E G H5660611722Krabbe disease atypical due to Saposin A deficiency611722C2673266OMIM17729498176801
HP:0001276HP:0011099Spastic hemiparesis2PSAP CL E G H5660611722Krabbe disease atypical due to Saposin A deficiency611722C2673266OMIM17729498176801
HP:0001276HP:0001285Spastic tetraparesis2PSAP CL E G H5660611722Krabbe disease atypical due to Saposin A deficiency611722C2673266OMIM17729498176801
HP:0001276HP:0002510Spastic tetraplegia2PSAP CL E G H5660611722Krabbe disease atypical due to Saposin A deficiency611722C2673266OMIM17729498176801
HP:0001276HP:0002501Spasticity of pharyngeal muscles2PSAP CL E G H5660611722Krabbe disease atypical due to Saposin A deficiency611722C2673266OMIM17729498176801
HP:0001276HP:0006986Upper limb spasticity2PSAP CL E G H5660611722Krabbe disease atypical due to Saposin A deficiency611722C2673266OMIM17729498176801
HP:0001276HP:0002491Spasticity of facial muscles2PSAT1 CL E G H29968610992Phosphoserine aminotransferase deficiency610992C1970253OMIM149819129610936
HP:0001276HP:0200049Upper limb hypertonia2PSAT1 CL E G H29968610992Phosphoserine aminotransferase deficiency610992C1970253OMIM149819129610936
HP:0001276HP:0006895Lower limb hypertonia2PSAT1 CL E G H29968610992Phosphoserine aminotransferase deficiency610992C1970253OMIM149819129610936
HP:0001276HP:0002396Cogwheel rigidity2PSAT1 CL E G H29968610992Phosphoserine aminotransferase deficiency610992C1970253OMIM149819129610936
HP:0001276HP:0025013Decerebrate rigidity2PSAT1 CL E G H29968610992Phosphoserine aminotransferase deficiency610992C1970253OMIM149819129610936
HP:0001276HP:0011444Decorticate rigidity2PSAT1 CL E G H29968610992Phosphoserine aminotransferase deficiency610992C1970253OMIM149819129610936
HP:0001276HP:0007076Extrapyramidal muscular rigidity2PSAT1 CL E G H29968610992Phosphoserine aminotransferase deficiency610992C1970253OMIM149819129610936
HP:0001276HP:0031866Clasp-knife sign2PSAT1 CL E G H29968610992Phosphoserine aminotransferase deficiency610992C1970253OMIM149819129610936
HP:0001276HP:0002061Lower limb spasticity2PSAT1 CL E G H29968610992Phosphoserine aminotransferase deficiency610992C1970253OMIM149819129610936
HP:0001276HP:0002179Opisthotonus2PSAT1 CL E G H29968610992Phosphoserine aminotransferase deficiency610992C1970253OMIM149819129610936
HP:0001276HP:0002191Progressive spasticity2PSAT1 CL E G H29968610992Phosphoserine aminotransferase deficiency610992C1970253OMIM149819129610936
HP:0001276HP:0001264Spastic diplegia2PSAT1 CL E G H29968610992Phosphoserine aminotransferase deficiency610992C1970253OMIM149819129610936
HP:0001276HP:0002464Spastic dysarthria2PSAT1 CL E G H29968610992Phosphoserine aminotransferase deficiency610992C1970253OMIM149819129610936
HP:0001276HP:0002064Spastic gait2PSAT1 CL E G H29968610992Phosphoserine aminotransferase deficiency610992C1970253OMIM149819129610936
HP:0001276HP:0011099Spastic hemiparesis2PSAT1 CL E G H29968610992Phosphoserine aminotransferase deficiency610992C1970253OMIM149819129610936
HP:0001276HP:0001285Spastic tetraparesis2PSAT1 CL E G H29968610992Phosphoserine aminotransferase deficiency610992C1970253OMIM149819129610936
HP:0001276HP:0002510Spastic tetraplegia2PSAT1 CL E G H29968610992Phosphoserine aminotransferase deficiency610992C1970253OMIM149819129610936
HP:0001276HP:0002501Spasticity of pharyngeal muscles2PSAT1 CL E G H29968610992Phosphoserine aminotransferase deficiency610992C1970253OMIM149819129610936
HP:0001276HP:0006986Upper limb spasticity2PSAT1 CL E G H29968610992Phosphoserine aminotransferase deficiency610992C1970253OMIM149819129610936
HP:0001276HP:0002491Spasticity of facial muscles2PSEN1 CL E G H56631020ORPHA15019508104311
HP:0001276HP:0200049Upper limb hypertonia2PSEN1 CL E G H56631020ORPHA15019508104311
HP:0001276HP:0006895Lower limb hypertonia2PSEN1 CL E G H56631020ORPHA15019508104311
HP:0001276HP:0002396Cogwheel rigidity2PSEN1 CL E G H56631020ORPHA15019508104311
HP:0001276HP:0025013Decerebrate rigidity2PSEN1 CL E G H56631020ORPHA15019508104311
HP:0001276HP:0011444Decorticate rigidity2PSEN1 CL E G H56631020ORPHA15019508104311
HP:0001276HP:0007076Extrapyramidal muscular rigidity2PSEN1 CL E G H56631020ORPHA15019508104311
HP:0001276HP:0031866Clasp-knife sign2PSEN1 CL E G H56631020ORPHA15019508104311
HP:0001276HP:0002061Lower limb spasticity2PSEN1 CL E G H56631020ORPHA15019508104311
HP:0001276HP:0002179Opisthotonus2PSEN1 CL E G H56631020ORPHA15019508104311
HP:0001276HP:0002191Progressive spasticity2PSEN1 CL E G H56631020ORPHA15019508104311
HP:0001276HP:0001264Spastic diplegia2PSEN1 CL E G H56631020ORPHA15019508104311
HP:0001276HP:0002464Spastic dysarthria2PSEN1 CL E G H56631020ORPHA15019508104311
HP:0001276HP:0002064Spastic gait2PSEN1 CL E G H56631020ORPHA15019508104311
HP:0001276HP:0011099Spastic hemiparesis2PSEN1 CL E G H56631020ORPHA15019508104311
HP:0001276HP:0001285Spastic tetraparesis2PSEN1 CL E G H56631020ORPHA15019508104311
HP:0001276HP:0002510Spastic tetraplegia2PSEN1 CL E G H56631020ORPHA15019508104311
HP:0001276HP:0002501Spasticity of pharyngeal muscles2PSEN1 CL E G H56631020ORPHA15019508104311
HP:0001276HP:0006986Upper limb spasticity2PSEN1 CL E G H56631020ORPHA15019508104311
HP:0001276HP:0002491Spasticity of facial muscles2PSEN2 CL E G H56641020ORPHA12799509600759
HP:0001276HP:0200049Upper limb hypertonia2PSEN2 CL E G H56641020ORPHA12799509600759
HP:0001276HP:0006895Lower limb hypertonia2PSEN2 CL E G H56641020ORPHA12799509600759
HP:0001276HP:0002396Cogwheel rigidity2PSEN2 CL E G H56641020ORPHA12799509600759
HP:0001276HP:0025013Decerebrate rigidity2PSEN2 CL E G H56641020ORPHA12799509600759
HP:0001276HP:0011444Decorticate rigidity2PSEN2 CL E G H56641020ORPHA12799509600759
HP:0001276HP:0007076Extrapyramidal muscular rigidity2PSEN2 CL E G H56641020ORPHA12799509600759
HP:0001276HP:0031866Clasp-knife sign2PSEN2 CL E G H56641020ORPHA12799509600759
HP:0001276HP:0002061Lower limb spasticity2PSEN2 CL E G H56641020ORPHA12799509600759
HP:0001276HP:0002179Opisthotonus2PSEN2 CL E G H56641020ORPHA12799509600759
HP:0001276HP:0002191Progressive spasticity2PSEN2 CL E G H56641020ORPHA12799509600759
HP:0001276HP:0001264Spastic diplegia2PSEN2 CL E G H56641020ORPHA12799509600759
HP:0001276HP:0002464Spastic dysarthria2PSEN2 CL E G H56641020ORPHA12799509600759
HP:0001276HP:0002064Spastic gait2PSEN2 CL E G H56641020ORPHA12799509600759
HP:0001276HP:0011099Spastic hemiparesis2PSEN2 CL E G H56641020ORPHA12799509600759
HP:0001276HP:0001285Spastic tetraparesis2PSEN2 CL E G H56641020ORPHA12799509600759
HP:0001276HP:0002510Spastic tetraplegia2PSEN2 CL E G H56641020ORPHA12799509600759
HP:0001276HP:0002501Spasticity of pharyngeal muscles2PSEN2 CL E G H56641020ORPHA12799509600759
HP:0001276HP:0006986Upper limb spasticity2PSEN2 CL E G H56641020ORPHA12799509600759
HP:0001276HP:0002491Spasticity of facial muscles2PSPH CL E G H5723614023Deficiency of phosphoserine phosphatase614023C1291463OMIM11899577172480
HP:0001276HP:0200049Upper limb hypertonia2PSPH CL E G H5723614023Deficiency of phosphoserine phosphatase614023C1291463OMIM11899577172480
HP:0001276HP:0006895Lower limb hypertonia2PSPH CL E G H5723614023Deficiency of phosphoserine phosphatase614023C1291463OMIM11899577172480
HP:0001276HP:0002396Cogwheel rigidity2PSPH CL E G H5723614023Deficiency of phosphoserine phosphatase614023C1291463OMIM11899577172480
HP:0001276HP:0025013Decerebrate rigidity2PSPH CL E G H5723614023Deficiency of phosphoserine phosphatase614023C1291463OMIM11899577172480
HP:0001276HP:0011444Decorticate rigidity2PSPH CL E G H5723614023Deficiency of phosphoserine phosphatase614023C1291463OMIM11899577172480
HP:0001276HP:0007076Extrapyramidal muscular rigidity2PSPH CL E G H5723614023Deficiency of phosphoserine phosphatase614023C1291463OMIM11899577172480
HP:0001276HP:0031866Clasp-knife sign2PSPH CL E G H5723614023Deficiency of phosphoserine phosphatase614023C1291463OMIM11899577172480
HP:0001276HP:0002061Lower limb spasticity2PSPH CL E G H5723614023Deficiency of phosphoserine phosphatase614023C1291463OMIM11899577172480
HP:0001276HP:0002179Opisthotonus2PSPH CL E G H5723614023Deficiency of phosphoserine phosphatase614023C1291463OMIM11899577172480
HP:0001276HP:0002191Progressive spasticity2PSPH CL E G H5723614023Deficiency of phosphoserine phosphatase614023C1291463OMIM11899577172480
HP:0001276HP:0001264Spastic diplegia2PSPH CL E G H5723614023Deficiency of phosphoserine phosphatase614023C1291463OMIM11899577172480
HP:0001276HP:0002464Spastic dysarthria2PSPH CL E G H5723614023Deficiency of phosphoserine phosphatase614023C1291463OMIM11899577172480
HP:0001276HP:0002064Spastic gait2PSPH CL E G H5723614023Deficiency of phosphoserine phosphatase614023C1291463OMIM11899577172480
HP:0001276HP:0011099Spastic hemiparesis2PSPH CL E G H5723614023Deficiency of phosphoserine phosphatase614023C1291463OMIM11899577172480
HP:0001276HP:0001285Spastic tetraparesis2PSPH CL E G H5723614023Deficiency of phosphoserine phosphatase614023C1291463OMIM11899577172480
HP:0001276HP:0002510Spastic tetraplegia2PSPH CL E G H5723614023Deficiency of phosphoserine phosphatase614023C1291463OMIM11899577172480
HP:0001276HP:0002501Spasticity of pharyngeal muscles2PSPH CL E G H5723614023Deficiency of phosphoserine phosphatase614023C1291463OMIM11899577172480
HP:0001276HP:0006986Upper limb spasticity2PSPH CL E G H5723614023Deficiency of phosphoserine phosphatase614023C1291463OMIM11899577172480
HP:0001276HP:0002491Spasticity of facial muscles2PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12639689612719
HP:0001276HP:0200049Upper limb hypertonia2PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12639689612719
HP:0001276HP:0006895Lower limb hypertonia2PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12639689612719
HP:0001276HP:0002396Cogwheel rigidity2PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12639689612719
HP:0001276HP:0025013Decerebrate rigidity2PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12639689612719
HP:0001276HP:0011444Decorticate rigidity2PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12639689612719
HP:0001276HP:0007076Extrapyramidal muscular rigidity2PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12639689612719
HP:0001276HP:0031866Clasp-knife sign2PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12639689612719
HP:0001276HP:0002061Lower limb spasticity2PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12639689612719
HP:0001276HP:0002179Opisthotonus2PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12639689612719
HP:0001276HP:0002191Progressive spasticity2PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12639689612719
HP:0001276HP:0001264Spastic diplegia2PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12639689612719
HP:0001276HP:0002464Spastic dysarthria2PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12639689612719
HP:0001276HP:0002064Spastic gait2PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12639689612719
HP:0001276HP:0011099Spastic hemiparesis2PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12639689612719
HP:0001276HP:0001285Spastic tetraparesis2PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12639689612719
HP:0001276HP:0002510Spastic tetraplegia2PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12639689612719
HP:0001276HP:0002501Spasticity of pharyngeal muscles2PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12639689612719
HP:0001276HP:0006986Upper limb spasticity2PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12639689612719
HP:0001276HP:0002491Spasticity of facial muscles2QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001276HP:0200049Upper limb hypertonia2QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001276HP:0006895Lower limb hypertonia2QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001276HP:0002396Cogwheel rigidity2QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001276HP:0025013Decerebrate rigidity2QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001276HP:0011444Decorticate rigidity2QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001276HP:0007076Extrapyramidal muscular rigidity2QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001276HP:0031866Clasp-knife sign2QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001276HP:0002061Lower limb spasticity2QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001276HP:0002179Opisthotonus2QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001276HP:0002191Progressive spasticity2QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001276HP:0001264Spastic diplegia2QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001276HP:0002464Spastic dysarthria2QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001276HP:0002064Spastic gait2QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001276HP:0011099Spastic hemiparesis2QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001276HP:0001285Spastic tetraparesis2QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001276HP:0002510Spastic tetraplegia2QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001276HP:0002501Spasticity of pharyngeal muscles2QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001276HP:0006986Upper limb spasticity2QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001276HP:0002491Spasticity of facial muscles2RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA13529811606462
HP:0001276HP:0200049Upper limb hypertonia2RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA13529811606462
HP:0001276HP:0006895Lower limb hypertonia2RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA13529811606462
HP:0001276HP:0002396Cogwheel rigidity2RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA13529811606462
HP:0001276HP:0025013Decerebrate rigidity2RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA13529811606462
HP:0001276HP:0011444Decorticate rigidity2RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA13529811606462
HP:0001276HP:0007076Extrapyramidal muscular rigidity2RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA13529811606462
HP:0001276HP:0031866Clasp-knife sign2RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA13529811606462
HP:0001276HP:0002061Lower limb spasticity2RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA13529811606462
HP:0001276HP:0002179Opisthotonus2RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA13529811606462
HP:0001276HP:0002191Progressive spasticity2RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA13529811606462
HP:0001276HP:0001264Spastic diplegia2RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA13529811606462
HP:0001276HP:0002464Spastic dysarthria2RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA13529811606462
HP:0001276HP:0002064Spastic gait2RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA13529811606462
HP:0001276HP:0011099Spastic hemiparesis2RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA13529811606462
HP:0001276HP:0001285Spastic tetraparesis2RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA13529811606462
HP:0001276HP:0002510Spastic tetraplegia2RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA13529811606462
HP:0001276HP:0002501Spasticity of pharyngeal muscles2RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA13529811606462
HP:0001276HP:0006986Upper limb spasticity2RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA13529811606462
HP:0001276HP:0002491Spasticity of facial muscles2RTEL1 CL E G H517503322ORPHA1259715888608833
HP:0001276HP:0200049Upper limb hypertonia2RTEL1 CL E G H517503322ORPHA1259715888608833
HP:0001276HP:0006895Lower limb hypertonia2RTEL1 CL E G H517503322ORPHA1259715888608833
HP:0001276HP:0002396Cogwheel rigidity2RTEL1 CL E G H517503322ORPHA1259715888608833
HP:0001276HP:0025013Decerebrate rigidity2RTEL1 CL E G H517503322ORPHA1259715888608833
HP:0001276HP:0011444Decorticate rigidity2RTEL1 CL E G H517503322ORPHA1259715888608833
HP:0001276HP:0007076Extrapyramidal muscular rigidity2RTEL1 CL E G H517503322ORPHA1259715888608833
HP:0001276HP:0031866Clasp-knife sign2RTEL1 CL E G H517503322ORPHA1259715888608833
HP:0001276HP:0002061Lower limb spasticity2RTEL1 CL E G H517503322ORPHA1259715888608833
HP:0001276HP:0002179Opisthotonus2RTEL1 CL E G H517503322ORPHA1259715888608833
HP:0001276HP:0002191Progressive spasticity2RTEL1 CL E G H517503322ORPHA1259715888608833
HP:0001276HP:0001264Spastic diplegia2RTEL1 CL E G H517503322ORPHA1259715888608833
HP:0001276HP:0002464Spastic dysarthria2RTEL1 CL E G H517503322ORPHA1259715888608833
HP:0001276HP:0002064Spastic gait2RTEL1 CL E G H517503322ORPHA1259715888608833
HP:0001276HP:0011099Spastic hemiparesis2RTEL1 CL E G H517503322ORPHA1259715888608833
HP:0001276HP:0001285Spastic tetraparesis2RTEL1 CL E G H517503322ORPHA1259715888608833
HP:0001276HP:0002510Spastic tetraplegia2RTEL1 CL E G H517503322ORPHA1259715888608833
HP:0001276HP:0002501Spasticity of pharyngeal muscles2RTEL1 CL E G H517503322ORPHA1259715888608833
HP:0001276HP:0006986Upper limb spasticity2RTEL1 CL E G H517503322ORPHA1259715888608833
HP:0001276HP:0002491Spasticity of facial muscles2SCN2A CL E G H6326306ORPHA1228010588182390
HP:0001276HP:0200049Upper limb hypertonia2SCN2A CL E G H6326306ORPHA1228010588182390
HP:0001276HP:0006895Lower limb hypertonia2SCN2A CL E G H6326306ORPHA1228010588182390
HP:0001276HP:0002396Cogwheel rigidity2SCN2A CL E G H6326306ORPHA1228010588182390
HP:0001276HP:0025013Decerebrate rigidity2SCN2A CL E G H6326306ORPHA1228010588182390
HP:0001276HP:0011444Decorticate rigidity2SCN2A CL E G H6326306ORPHA1228010588182390
HP:0001276HP:0007076Extrapyramidal muscular rigidity2SCN2A CL E G H6326306ORPHA1228010588182390
HP:0001276HP:0031866Clasp-knife sign2SCN2A CL E G H6326306ORPHA1228010588182390
HP:0001276HP:0002061Lower limb spasticity2SCN2A CL E G H6326306ORPHA1228010588182390
HP:0001276HP:0002179Opisthotonus2SCN2A CL E G H6326306ORPHA1228010588182390
HP:0001276HP:0002191Progressive spasticity2SCN2A CL E G H6326306ORPHA1228010588182390
HP:0001276HP:0001264Spastic diplegia2SCN2A CL E G H6326306ORPHA1228010588182390
HP:0001276HP:0002464Spastic dysarthria2SCN2A CL E G H6326306ORPHA1228010588182390
HP:0001276HP:0002064Spastic gait2SCN2A CL E G H6326306ORPHA1228010588182390
HP:0001276HP:0011099Spastic hemiparesis2SCN2A CL E G H6326306ORPHA1228010588182390
HP:0001276HP:0001285Spastic tetraparesis2SCN2A CL E G H6326306ORPHA1228010588182390
HP:0001276HP:0002510Spastic tetraplegia2SCN2A CL E G H6326306ORPHA1228010588182390
HP:0001276HP:0002501Spasticity of pharyngeal muscles2SCN2A CL E G H6326306ORPHA1228010588182390
HP:0001276HP:0006986Upper limb spasticity2SCN2A CL E G H6326306ORPHA1228010588182390
HP:0001276HP:0002491Spasticity of facial muscles2SCN4A CL E G H632999734ORPHA1176510591603967
HP:0001276HP:0200049Upper limb hypertonia2SCN4A CL E G H632999734ORPHA1176510591603967
HP:0001276HP:0006895Lower limb hypertonia2SCN4A CL E G H632999734ORPHA1176510591603967
HP:0001276HP:0002396Cogwheel rigidity2SCN4A CL E G H632999734ORPHA1176510591603967
HP:0001276HP:0025013Decerebrate rigidity2SCN4A CL E G H632999734ORPHA1176510591603967
HP:0001276HP:0011444Decorticate rigidity2SCN4A CL E G H632999734ORPHA1176510591603967
HP:0001276HP:0007076Extrapyramidal muscular rigidity2SCN4A CL E G H632999734ORPHA1176510591603967
HP:0001276HP:0031866Clasp-knife sign2SCN4A CL E G H632999734ORPHA1176510591603967
HP:0001276HP:0002061Lower limb spasticity2SCN4A CL E G H632999734ORPHA1176510591603967
HP:0001276HP:0002179Opisthotonus2SCN4A CL E G H632999734ORPHA1176510591603967
HP:0001276HP:0002191Progressive spasticity2SCN4A CL E G H632999734ORPHA1176510591603967
HP:0001276HP:0001264Spastic diplegia2SCN4A CL E G H632999734ORPHA1176510591603967
HP:0001276HP:0002464Spastic dysarthria2SCN4A CL E G H632999734ORPHA1176510591603967
HP:0001276HP:0002064Spastic gait2SCN4A CL E G H632999734ORPHA1176510591603967
HP:0001276HP:0011099Spastic hemiparesis2SCN4A CL E G H632999734ORPHA1176510591603967
HP:0001276HP:0001285Spastic tetraparesis2SCN4A CL E G H632999734ORPHA1176510591603967
HP:0001276HP:0002510Spastic tetraplegia2SCN4A CL E G H632999734ORPHA1176510591603967
HP:0001276HP:0002501Spasticity of pharyngeal muscles2SCN4A CL E G H632999734ORPHA1176510591603967
HP:0001276HP:0006986Upper limb spasticity2SCN4A CL E G H632999734ORPHA1176510591603967
HP:0001276HP:0002491Spasticity of facial muscles2SCN4A CL E G H632999735ORPHA1176510591603967
HP:0001276HP:0200049Upper limb hypertonia2SCN4A CL E G H632999735ORPHA1176510591603967
HP:0001276HP:0006895Lower limb hypertonia2SCN4A CL E G H632999735ORPHA1176510591603967
HP:0001276HP:0002396Cogwheel rigidity2SCN4A CL E G H632999735ORPHA1176510591603967
HP:0001276HP:0025013Decerebrate rigidity2SCN4A CL E G H632999735ORPHA1176510591603967
HP:0001276HP:0011444Decorticate rigidity2SCN4A CL E G H632999735ORPHA1176510591603967
HP:0001276HP:0007076Extrapyramidal muscular rigidity2SCN4A CL E G H632999735ORPHA1176510591603967
HP:0001276HP:0031866Clasp-knife sign2SCN4A CL E G H632999735ORPHA1176510591603967
HP:0001276HP:0002061Lower limb spasticity2SCN4A CL E G H632999735ORPHA1176510591603967
HP:0001276HP:0002179Opisthotonus2SCN4A CL E G H632999735ORPHA1176510591603967
HP:0001276HP:0002191Progressive spasticity2SCN4A CL E G H632999735ORPHA1176510591603967
HP:0001276HP:0001264Spastic diplegia2SCN4A CL E G H632999735ORPHA1176510591603967
HP:0001276HP:0002464Spastic dysarthria2SCN4A CL E G H632999735ORPHA1176510591603967
HP:0001276HP:0002064Spastic gait2SCN4A CL E G H632999735ORPHA1176510591603967
HP:0001276HP:0011099Spastic hemiparesis2SCN4A CL E G H632999735ORPHA1176510591603967
HP:0001276HP:0001285Spastic tetraparesis2SCN4A CL E G H632999735ORPHA1176510591603967
HP:0001276HP:0002510Spastic tetraplegia2SCN4A CL E G H632999735ORPHA1176510591603967
HP:0001276HP:0002501Spasticity of pharyngeal muscles2SCN4A CL E G H632999735ORPHA1176510591603967
HP:0001276HP:0006986Upper limb spasticity2SCN4A CL E G H632999735ORPHA1176510591603967
HP:0001276HP:0002491Spasticity of facial muscles2SCN4A CL E G H632999736ORPHA1176510591603967
HP:0001276HP:0200049Upper limb hypertonia2SCN4A CL E G H632999736ORPHA1176510591603967
HP:0001276HP:0006895Lower limb hypertonia2SCN4A CL E G H632999736ORPHA1176510591603967
HP:0001276HP:0002396Cogwheel rigidity2SCN4A CL E G H632999736ORPHA1176510591603967
HP:0001276HP:0025013Decerebrate rigidity2SCN4A CL E G H632999736ORPHA1176510591603967
HP:0001276HP:0011444Decorticate rigidity2SCN4A CL E G H632999736ORPHA1176510591603967
HP:0001276HP:0007076Extrapyramidal muscular rigidity2SCN4A CL E G H632999736ORPHA1176510591603967
HP:0001276HP:0031866Clasp-knife sign2SCN4A CL E G H632999736ORPHA1176510591603967
HP:0001276HP:0002061Lower limb spasticity2SCN4A CL E G H632999736ORPHA1176510591603967
HP:0001276HP:0002179Opisthotonus2SCN4A CL E G H632999736ORPHA1176510591603967
HP:0001276HP:0002191Progressive spasticity2SCN4A CL E G H632999736ORPHA1176510591603967
HP:0001276HP:0001264Spastic diplegia2SCN4A CL E G H632999736ORPHA1176510591603967
HP:0001276HP:0002464Spastic dysarthria2SCN4A CL E G H632999736ORPHA1176510591603967
HP:0001276HP:0002064Spastic gait2SCN4A CL E G H632999736ORPHA1176510591603967
HP:0001276HP:0011099Spastic hemiparesis2SCN4A CL E G H632999736ORPHA1176510591603967
HP:0001276HP:0001285Spastic tetraparesis2SCN4A CL E G H632999736ORPHA1176510591603967
HP:0001276HP:0002510Spastic tetraplegia2SCN4A CL E G H632999736ORPHA1176510591603967
HP:0001276HP:0002501Spasticity of pharyngeal muscles2SCN4A CL E G H632999736ORPHA1176510591603967
HP:0001276HP:0006986Upper limb spasticity2SCN4A CL E G H632999736ORPHA1176510591603967
HP:0001276HP:0002491Spasticity of facial muscles2SCN8A CL E G H6334306ORPHA1179910596600702
HP:0001276HP:0200049Upper limb hypertonia2SCN8A CL E G H6334306ORPHA1179910596600702
HP:0001276HP:0006895Lower limb hypertonia2SCN8A CL E G H6334306ORPHA1179910596600702
HP:0001276HP:0002396Cogwheel rigidity2SCN8A CL E G H6334306ORPHA1179910596600702
HP:0001276HP:0025013Decerebrate rigidity2SCN8A CL E G H6334306ORPHA1179910596600702
HP:0001276HP:0011444Decorticate rigidity2SCN8A CL E G H6334306ORPHA1179910596600702
HP:0001276HP:0007076Extrapyramidal muscular rigidity2SCN8A CL E G H6334306ORPHA1179910596600702
HP:0001276HP:0031866Clasp-knife sign2SCN8A CL E G H6334306ORPHA1179910596600702
HP:0001276HP:0002061Lower limb spasticity2SCN8A CL E G H6334306ORPHA1179910596600702
HP:0001276HP:0002179Opisthotonus2SCN8A CL E G H6334306ORPHA1179910596600702
HP:0001276HP:0002191Progressive spasticity2SCN8A CL E G H6334306ORPHA1179910596600702
HP:0001276HP:0001264Spastic diplegia2SCN8A CL E G H6334306ORPHA1179910596600702
HP:0001276HP:0002464Spastic dysarthria2SCN8A CL E G H6334306ORPHA1179910596600702
HP:0001276HP:0002064Spastic gait2SCN8A CL E G H6334306ORPHA1179910596600702
HP:0001276HP:0011099Spastic hemiparesis2SCN8A CL E G H6334306ORPHA1179910596600702
HP:0001276HP:0001285Spastic tetraparesis2SCN8A CL E G H6334306ORPHA1179910596600702
HP:0001276HP:0002510Spastic tetraplegia2SCN8A CL E G H6334306ORPHA1179910596600702
HP:0001276HP:0002501Spasticity of pharyngeal muscles2SCN8A CL E G H6334306ORPHA1179910596600702
HP:0001276HP:0006986Upper limb spasticity2SCN8A CL E G H6334306ORPHA1179910596600702
HP:0001276HP:0002491Spasticity of facial muscles2SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA190925566615743
HP:0001276HP:0200049Upper limb hypertonia2SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA190925566615743
HP:0001276HP:0006895Lower limb hypertonia2SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA190925566615743
HP:0001276HP:0002396Cogwheel rigidity2SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA190925566615743
HP:0001276HP:0025013Decerebrate rigidity2SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA190925566615743
HP:0001276HP:0011444Decorticate rigidity2SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA190925566615743
HP:0001276HP:0007076Extrapyramidal muscular rigidity2SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA190925566615743
HP:0001276HP:0031866Clasp-knife sign2SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA190925566615743
HP:0001276HP:0002061Lower limb spasticity2SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA190925566615743
HP:0001276HP:0002179Opisthotonus2SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA190925566615743
HP:0001276HP:0002191Progressive spasticity2SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA190925566615743
HP:0001276HP:0001264Spastic diplegia2SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA190925566615743
HP:0001276HP:0002464Spastic dysarthria2SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA190925566615743
HP:0001276HP:0002064Spastic gait2SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA190925566615743
HP:0001276HP:0011099Spastic hemiparesis2SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA190925566615743
HP:0001276HP:0001285Spastic tetraparesis2SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA190925566615743
HP:0001276HP:0002510Spastic tetraplegia2SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA190925566615743
HP:0001276HP:0002501Spasticity of pharyngeal muscles2SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA190925566615743
HP:0001276HP:0006986Upper limb spasticity2SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA190925566615743
HP:0001276HP:0002491Spasticity of facial muscles2SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0001276HP:0200049Upper limb hypertonia2SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0001276HP:0006895Lower limb hypertonia2SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0001276HP:0002396Cogwheel rigidity2SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0001276HP:0025013Decerebrate rigidity2SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0001276HP:0011444Decorticate rigidity2SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0001276HP:0007076Extrapyramidal muscular rigidity2SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0001276HP:0031866Clasp-knife sign2SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0001276HP:0002061Lower limb spasticity2SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0001276HP:0002179Opisthotonus2SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0001276HP:0002191Progressive spasticity2SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0001276HP:0001264Spastic diplegia2SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0001276HP:0002464Spastic dysarthria2SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0001276HP:0002064Spastic gait2SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0001276HP:0011099Spastic hemiparesis2SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0001276HP:0001285Spastic tetraparesis2SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0001276HP:0002510Spastic tetraplegia2SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0001276HP:0002501Spasticity of pharyngeal muscles2SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0001276HP:0006986Upper limb spasticity2SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0001276HP:0002491Spasticity of facial muscles2SLC6A19 CL E G H340024234500Neutral 1 amino acid transport defect234500C0018609OMIM152327960608893
HP:0001276HP:0200049Upper limb hypertonia2SLC6A19 CL E G H340024234500Neutral 1 amino acid transport defect234500C0018609OMIM152327960608893
HP:0001276HP:0006895Lower limb hypertonia2SLC6A19 CL E G H340024234500Neutral 1 amino acid transport defect234500C0018609OMIM152327960608893
HP:0001276HP:0002396Cogwheel rigidity2SLC6A19 CL E G H340024234500Neutral 1 amino acid transport defect234500C0018609OMIM152327960608893
HP:0001276HP:0025013Decerebrate rigidity2SLC6A19 CL E G H340024234500Neutral 1 amino acid transport defect234500C0018609OMIM152327960608893
HP:0001276HP:0011444Decorticate rigidity2SLC6A19 CL E G H340024234500Neutral 1 amino acid transport defect234500C0018609OMIM152327960608893
HP:0001276HP:0007076Extrapyramidal muscular rigidity2SLC6A19 CL E G H340024234500Neutral 1 amino acid transport defect234500C0018609OMIM152327960608893
HP:0001276HP:0031866Clasp-knife sign2SLC6A19 CL E G H340024234500Neutral 1 amino acid transport defect234500C0018609OMIM152327960608893
HP:0001276HP:0002061Lower limb spasticity2SLC6A19 CL E G H340024234500Neutral 1 amino acid transport defect234500C0018609OMIM152327960608893
HP:0001276HP:0002179Opisthotonus2SLC6A19 CL E G H340024234500Neutral 1 amino acid transport defect234500C0018609OMIM152327960608893
HP:0001276HP:0002191Progressive spasticity2SLC6A19 CL E G H340024234500Neutral 1 amino acid transport defect234500C0018609OMIM152327960608893
HP:0001276HP:0001264Spastic diplegia2SLC6A19 CL E G H340024234500Neutral 1 amino acid transport defect234500C0018609OMIM152327960608893
HP:0001276HP:0002464Spastic dysarthria2SLC6A19 CL E G H340024234500Neutral 1 amino acid transport defect234500C0018609OMIM152327960608893
HP:0001276HP:0002064Spastic gait2SLC6A19 CL E G H340024234500Neutral 1 amino acid transport defect234500C0018609OMIM152327960608893
HP:0001276HP:0011099Spastic hemiparesis2SLC6A19 CL E G H340024234500Neutral 1 amino acid transport defect234500C0018609OMIM152327960608893
HP:0001276HP:0001285Spastic tetraparesis2SLC6A19 CL E G H340024234500Neutral 1 amino acid transport defect234500C0018609OMIM152327960608893
HP:0001276HP:0002510Spastic tetraplegia2SLC6A19 CL E G H340024234500Neutral 1 amino acid transport defect234500C0018609OMIM152327960608893
HP:0001276HP:0002501Spasticity of pharyngeal muscles2SLC6A19 CL E G H340024234500Neutral 1 amino acid transport defect234500C0018609OMIM152327960608893
HP:0001276HP:0006986Upper limb spasticity2SLC6A19 CL E G H340024234500Neutral 1 amino acid transport defect234500C0018609OMIM152327960608893
HP:0001276HP:0002491Spasticity of facial muscles2SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM158311049126455
HP:0001276HP:0200049Upper limb hypertonia2SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM158311049126455
HP:0001276HP:0006895Lower limb hypertonia2SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM158311049126455
HP:0001276HP:0002396Cogwheel rigidity2SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM158311049126455
HP:0001276HP:0025013Decerebrate rigidity2SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM158311049126455
HP:0001276HP:0011444Decorticate rigidity2SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM158311049126455
HP:0001276HP:0007076Extrapyramidal muscular rigidity2SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM158311049126455
HP:0001276HP:0031866Clasp-knife sign2SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM158311049126455
HP:0001276HP:0002061Lower limb spasticity2SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM158311049126455
HP:0001276HP:0002179Opisthotonus2SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM158311049126455
HP:0001276HP:0002191Progressive spasticity2SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM158311049126455
HP:0001276HP:0001264Spastic diplegia2SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM158311049126455
HP:0001276HP:0002464Spastic dysarthria2SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM158311049126455
HP:0001276HP:0002064Spastic gait2SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM158311049126455
HP:0001276HP:0011099Spastic hemiparesis2SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM158311049126455
HP:0001276HP:0001285Spastic tetraparesis2SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM158311049126455
HP:0001276HP:0002510Spastic tetraplegia2SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM158311049126455
HP:0001276HP:0002501Spasticity of pharyngeal muscles2SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM158311049126455
HP:0001276HP:0006986Upper limb spasticity2SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM158311049126455
HP:0001276HP:0002491Spasticity of facial muscles2SLC6A5 CL E G H9152614618Hyperekplexia 3614618C3553288OMIM171811051604159
HP:0001276HP:0200049Upper limb hypertonia2SLC6A5 CL E G H9152614618Hyperekplexia 3614618C3553288OMIM171811051604159
HP:0001276HP:0006895Lower limb hypertonia2SLC6A5 CL E G H9152614618Hyperekplexia 3614618C3553288OMIM171811051604159
HP:0001276HP:0002396Cogwheel rigidity2SLC6A5 CL E G H9152614618Hyperekplexia 3614618C3553288OMIM171811051604159
HP:0001276HP:0025013Decerebrate rigidity2SLC6A5 CL E G H9152614618Hyperekplexia 3614618C3553288OMIM171811051604159
HP:0001276HP:0011444Decorticate rigidity2SLC6A5 CL E G H9152614618Hyperekplexia 3614618C3553288OMIM171811051604159
HP:0001276HP:0007076Extrapyramidal muscular rigidity2SLC6A5 CL E G H9152614618Hyperekplexia 3614618C3553288OMIM171811051604159
HP:0001276HP:0031866Clasp-knife sign2SLC6A5 CL E G H9152614618Hyperekplexia 3614618C3553288OMIM171811051604159
HP:0001276HP:0002061Lower limb spasticity2SLC6A5 CL E G H9152614618Hyperekplexia 3614618C3553288OMIM171811051604159
HP:0001276HP:0002179Opisthotonus2SLC6A5 CL E G H9152614618Hyperekplexia 3614618C3553288OMIM171811051604159
HP:0001276HP:0002191Progressive spasticity2SLC6A5 CL E G H9152614618Hyperekplexia 3614618C3553288OMIM171811051604159
HP:0001276HP:0001264Spastic diplegia2SLC6A5 CL E G H9152614618Hyperekplexia 3614618C3553288OMIM171811051604159
HP:0001276HP:0002464Spastic dysarthria2SLC6A5 CL E G H9152614618Hyperekplexia 3614618C3553288OMIM171811051604159
HP:0001276HP:0002064Spastic gait2SLC6A5 CL E G H9152614618Hyperekplexia 3614618C3553288OMIM171811051604159
HP:0001276HP:0011099Spastic hemiparesis2SLC6A5 CL E G H9152614618Hyperekplexia 3614618C3553288OMIM171811051604159
HP:0001276HP:0001285Spastic tetraparesis2SLC6A5 CL E G H9152614618Hyperekplexia 3614618C3553288OMIM171811051604159
HP:0001276HP:0002510Spastic tetraplegia2SLC6A5 CL E G H9152614618Hyperekplexia 3614618C3553288OMIM171811051604159
HP:0001276HP:0002501Spasticity of pharyngeal muscles2SLC6A5 CL E G H9152614618Hyperekplexia 3614618C3553288OMIM171811051604159
HP:0001276HP:0006986Upper limb spasticity2SLC6A5 CL E G H9152614618Hyperekplexia 3614618C3553288OMIM171811051604159
HP:0001276HP:0002491Spasticity of facial muscles2SLC6A8 CL E G H653552503ORPHA1106211055300036
HP:0001276HP:0200049Upper limb hypertonia2SLC6A8 CL E G H653552503ORPHA1106211055300036
HP:0001276HP:0006895Lower limb hypertonia2SLC6A8 CL E G H653552503ORPHA1106211055300036
HP:0001276HP:0002396Cogwheel rigidity2SLC6A8 CL E G H653552503ORPHA1106211055300036
HP:0001276HP:0025013Decerebrate rigidity2SLC6A8 CL E G H653552503ORPHA1106211055300036
HP:0001276HP:0011444Decorticate rigidity2SLC6A8 CL E G H653552503ORPHA1106211055300036
HP:0001276HP:0007076Extrapyramidal muscular rigidity2SLC6A8 CL E G H653552503ORPHA1106211055300036
HP:0001276HP:0031866Clasp-knife sign2SLC6A8 CL E G H653552503ORPHA1106211055300036
HP:0001276HP:0002061Lower limb spasticity2SLC6A8 CL E G H653552503ORPHA1106211055300036
HP:0001276HP:0002179Opisthotonus2SLC6A8 CL E G H653552503ORPHA1106211055300036
HP:0001276HP:0002191Progressive spasticity2SLC6A8 CL E G H653552503ORPHA1106211055300036
HP:0001276HP:0001264Spastic diplegia2SLC6A8 CL E G H653552503ORPHA1106211055300036
HP:0001276HP:0002464Spastic dysarthria2SLC6A8 CL E G H653552503ORPHA1106211055300036
HP:0001276HP:0002064Spastic gait2SLC6A8 CL E G H653552503ORPHA1106211055300036
HP:0001276HP:0011099Spastic hemiparesis2SLC6A8 CL E G H653552503ORPHA1106211055300036
HP:0001276HP:0001285Spastic tetraparesis2SLC6A8 CL E G H653552503ORPHA1106211055300036
HP:0001276HP:0002510Spastic tetraplegia2SLC6A8 CL E G H653552503ORPHA1106211055300036
HP:0001276HP:0002501Spasticity of pharyngeal muscles2SLC6A8 CL E G H653552503ORPHA1106211055300036
HP:0001276HP:0006986Upper limb spasticity2SLC6A8 CL E G H653552503ORPHA1106211055300036
HP:0001276HP:0002491Spasticity of facial muscles2SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM126911056601019
HP:0001276HP:0200049Upper limb hypertonia2SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM126911056601019
HP:0001276HP:0006895Lower limb hypertonia2SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM126911056601019
HP:0001276HP:0002396Cogwheel rigidity2SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM126911056601019
HP:0001276HP:0025013Decerebrate rigidity2SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM126911056601019
HP:0001276HP:0011444Decorticate rigidity2SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM126911056601019
HP:0001276HP:0007076Extrapyramidal muscular rigidity2SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM126911056601019
HP:0001276HP:0031866Clasp-knife sign2SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM126911056601019
HP:0001276HP:0002061Lower limb spasticity2SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM126911056601019
HP:0001276HP:0002179Opisthotonus2SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM126911056601019
HP:0001276HP:0002191Progressive spasticity2SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM126911056601019
HP:0001276HP:0001264Spastic diplegia2SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM126911056601019
HP:0001276HP:0002464Spastic dysarthria2SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM126911056601019
HP:0001276HP:0002064Spastic gait2SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM126911056601019
HP:0001276HP:0011099Spastic hemiparesis2SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM126911056601019
HP:0001276HP:0001285Spastic tetraparesis2SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM126911056601019
HP:0001276HP:0002510Spastic tetraplegia2SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM126911056601019
HP:0001276HP:0002501Spasticity of pharyngeal muscles2SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM126911056601019
HP:0001276HP:0006986Upper limb spasticity2SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM126911056601019
HP:0001276HP:0002491Spasticity of facial muscles2SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA193911111300040
HP:0001276HP:0200049Upper limb hypertonia2SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA193911111300040
HP:0001276HP:0006895Lower limb hypertonia2SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA193911111300040
HP:0001276HP:0002396Cogwheel rigidity2SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA193911111300040
HP:0001276HP:0025013Decerebrate rigidity2SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA193911111300040
HP:0001276HP:0011444Decorticate rigidity2SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA193911111300040
HP:0001276HP:0007076Extrapyramidal muscular rigidity2SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA193911111300040
HP:0001276HP:0031866Clasp-knife sign2SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA193911111300040
HP:0001276HP:0002061Lower limb spasticity2SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA193911111300040
HP:0001276HP:0002179Opisthotonus2SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA193911111300040
HP:0001276HP:0002191Progressive spasticity2SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA193911111300040
HP:0001276HP:0001264Spastic diplegia2SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA193911111300040
HP:0001276HP:0002464Spastic dysarthria2SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA193911111300040
HP:0001276HP:0002064Spastic gait2SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA193911111300040
HP:0001276HP:0011099Spastic hemiparesis2SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA193911111300040
HP:0001276HP:0001285Spastic tetraparesis2SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA193911111300040
HP:0001276HP:0002510Spastic tetraplegia2SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA193911111300040
HP:0001276HP:0002501Spasticity of pharyngeal muscles2SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA193911111300040
HP:0001276HP:0006986Upper limb spasticity2SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA193911111300040
HP:0001276HP:0002491Spasticity of facial muscles2SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA14722468606062
HP:0001276HP:0200049Upper limb hypertonia2SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA14722468606062
HP:0001276HP:0006895Lower limb hypertonia2SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA14722468606062
HP:0001276HP:0002396Cogwheel rigidity2SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA14722468606062
HP:0001276HP:0025013Decerebrate rigidity2SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA14722468606062
HP:0001276HP:0011444Decorticate rigidity2SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA14722468606062
HP:0001276HP:0007076Extrapyramidal muscular rigidity2SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA14722468606062
HP:0001276HP:0031866Clasp-knife sign2SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA14722468606062
HP:0001276HP:0002061Lower limb spasticity2SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA14722468606062
HP:0001276HP:0002179Opisthotonus2SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA14722468606062
HP:0001276HP:0002191Progressive spasticity2SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA14722468606062
HP:0001276HP:0001264Spastic diplegia2SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA14722468606062
HP:0001276HP:0002464Spastic dysarthria2SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA14722468606062
HP:0001276HP:0002064Spastic gait2SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA14722468606062
HP:0001276HP:0011099Spastic hemiparesis2SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA14722468606062
HP:0001276HP:0001285Spastic tetraparesis2SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA14722468606062
HP:0001276HP:0002510Spastic tetraplegia2SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA14722468606062
HP:0001276HP:0002501Spasticity of pharyngeal muscles2SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA14722468606062
HP:0001276HP:0006986Upper limb spasticity2SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA14722468606062
HP:0001276HP:0002491Spasticity of facial muscles2SORL1 CL E G H66531020ORPHA153711185602005
HP:0001276HP:0200049Upper limb hypertonia2SORL1 CL E G H66531020ORPHA153711185602005
HP:0001276HP:0006895Lower limb hypertonia2SORL1 CL E G H66531020ORPHA153711185602005
HP:0001276HP:0002396Cogwheel rigidity2SORL1 CL E G H66531020ORPHA153711185602005
HP:0001276HP:0025013Decerebrate rigidity2SORL1 CL E G H66531020ORPHA153711185602005
HP:0001276HP:0011444Decorticate rigidity2SORL1 CL E G H66531020ORPHA153711185602005
HP:0001276HP:0007076Extrapyramidal muscular rigidity2SORL1 CL E G H66531020ORPHA153711185602005
HP:0001276HP:0031866Clasp-knife sign2SORL1 CL E G H66531020ORPHA153711185602005
HP:0001276HP:0002061Lower limb spasticity2SORL1 CL E G H66531020ORPHA153711185602005
HP:0001276HP:0002179Opisthotonus2SORL1 CL E G H66531020ORPHA153711185602005
HP:0001276HP:0002191Progressive spasticity2SORL1 CL E G H66531020ORPHA153711185602005
HP:0001276HP:0001264Spastic diplegia2SORL1 CL E G H66531020ORPHA153711185602005
HP:0001276HP:0002464Spastic dysarthria2SORL1 CL E G H66531020ORPHA153711185602005
HP:0001276HP:0002064Spastic gait2SORL1 CL E G H66531020ORPHA153711185602005
HP:0001276HP:0011099Spastic hemiparesis2SORL1 CL E G H66531020ORPHA153711185602005
HP:0001276HP:0001285Spastic tetraparesis2SORL1 CL E G H66531020ORPHA153711185602005
HP:0001276HP:0002510Spastic tetraplegia2SORL1 CL E G H66531020ORPHA153711185602005
HP:0001276HP:0002501Spasticity of pharyngeal muscles2SORL1 CL E G H66531020ORPHA153711185602005
HP:0001276HP:0006986Upper limb spasticity2SORL1 CL E G H66531020ORPHA153711185602005
HP:0001276HP:0002491Spasticity of facial muscles2SOX10 CL E G H6663611584Waardenburg syndrome type 2E611584C2700405OMIM137811190602229
HP:0001276HP:0200049Upper limb hypertonia2SOX10 CL E G H6663611584Waardenburg syndrome type 2E611584C2700405OMIM137811190602229
HP:0001276HP:0006895Lower limb hypertonia2SOX10 CL E G H6663611584Waardenburg syndrome type 2E611584C2700405OMIM137811190602229
HP:0001276HP:0002396Cogwheel rigidity2SOX10 CL E G H6663611584Waardenburg syndrome type 2E611584C2700405OMIM137811190602229
HP:0001276HP:0025013Decerebrate rigidity2SOX10 CL E G H6663611584Waardenburg syndrome type 2E611584C2700405OMIM137811190602229
HP:0001276HP:0011444Decorticate rigidity2SOX10 CL E G H6663611584Waardenburg syndrome type 2E611584C2700405OMIM137811190602229
HP:0001276HP:0007076Extrapyramidal muscular rigidity2SOX10 CL E G H6663611584Waardenburg syndrome type 2E611584C2700405OMIM137811190602229
HP:0001276HP:0031866Clasp-knife sign2SOX10 CL E G H6663611584Waardenburg syndrome type 2E611584C2700405OMIM137811190602229
HP:0001276HP:0002061Lower limb spasticity2SOX10 CL E G H6663611584Waardenburg syndrome type 2E611584C2700405OMIM137811190602229
HP:0001276HP:0002179Opisthotonus2SOX10 CL E G H6663611584Waardenburg syndrome type 2E611584C2700405OMIM137811190602229
HP:0001276HP:0002191Progressive spasticity2SOX10 CL E G H6663611584Waardenburg syndrome type 2E611584C2700405OMIM137811190602229
HP:0001276HP:0001264Spastic diplegia2SOX10 CL E G H6663611584Waardenburg syndrome type 2E611584C2700405OMIM137811190602229
HP:0001276HP:0002464Spastic dysarthria2SOX10 CL E G H6663611584Waardenburg syndrome type 2E611584C2700405OMIM137811190602229
HP:0001276HP:0002064Spastic gait2SOX10 CL E G H6663611584Waardenburg syndrome type 2E611584C2700405OMIM137811190602229
HP:0001276HP:0011099Spastic hemiparesis2SOX10 CL E G H6663611584Waardenburg syndrome type 2E611584C2700405OMIM137811190602229
HP:0001276HP:0001285Spastic tetraparesis2SOX10 CL E G H6663611584Waardenburg syndrome type 2E611584C2700405OMIM137811190602229
HP:0001276HP:0002510Spastic tetraplegia2SOX10 CL E G H6663611584Waardenburg syndrome type 2E611584C2700405OMIM137811190602229
HP:0001276HP:0002501Spasticity of pharyngeal muscles2SOX10 CL E G H6663611584Waardenburg syndrome type 2E611584C2700405OMIM137811190602229
HP:0001276HP:0006986Upper limb spasticity2SOX10 CL E G H6663611584Waardenburg syndrome type 2E611584C2700405OMIM137811190602229
HP:0001276HP:0002491Spasticity of facial muscles2SUOX CL E G H6821272300Sulfite oxidase deficiency272300C0268624OMIM135311460606887
HP:0001276HP:0200049Upper limb hypertonia2SUOX CL E G H6821272300Sulfite oxidase deficiency272300C0268624OMIM135311460606887
HP:0001276HP:0006895Lower limb hypertonia2SUOX CL E G H6821272300Sulfite oxidase deficiency272300C0268624OMIM135311460606887
HP:0001276HP:0002396Cogwheel rigidity2SUOX CL E G H6821272300Sulfite oxidase deficiency272300C0268624OMIM135311460606887
HP:0001276HP:0025013Decerebrate rigidity2SUOX CL E G H6821272300Sulfite oxidase deficiency272300C0268624OMIM135311460606887
HP:0001276HP:0011444Decorticate rigidity2SUOX CL E G H6821272300Sulfite oxidase deficiency272300C0268624OMIM135311460606887
HP:0001276HP:0007076Extrapyramidal muscular rigidity2SUOX CL E G H6821272300Sulfite oxidase deficiency272300C0268624OMIM135311460606887
HP:0001276HP:0031866Clasp-knife sign2SUOX CL E G H6821272300Sulfite oxidase deficiency272300C0268624OMIM135311460606887
HP:0001276HP:0002061Lower limb spasticity2SUOX CL E G H6821272300Sulfite oxidase deficiency272300C0268624OMIM135311460606887
HP:0001276HP:0002179Opisthotonus2SUOX CL E G H6821272300Sulfite oxidase deficiency272300C0268624OMIM135311460606887
HP:0001276HP:0002191Progressive spasticity2SUOX CL E G H6821272300Sulfite oxidase deficiency272300C0268624OMIM135311460606887
HP:0001276HP:0001264Spastic diplegia2SUOX CL E G H6821272300Sulfite oxidase deficiency272300C0268624OMIM135311460606887
HP:0001276HP:0002464Spastic dysarthria2SUOX CL E G H6821272300Sulfite oxidase deficiency272300C0268624OMIM135311460606887
HP:0001276HP:0002064Spastic gait2SUOX CL E G H6821272300Sulfite oxidase deficiency272300C0268624OMIM135311460606887
HP:0001276HP:0011099Spastic hemiparesis2SUOX CL E G H6821272300Sulfite oxidase deficiency272300C0268624OMIM135311460606887
HP:0001276HP:0001285Spastic tetraparesis2SUOX CL E G H6821272300Sulfite oxidase deficiency272300C0268624OMIM135311460606887
HP:0001276HP:0002510Spastic tetraplegia2SUOX CL E G H6821272300Sulfite oxidase deficiency272300C0268624OMIM135311460606887
HP:0001276HP:0002501Spasticity of pharyngeal muscles2SUOX CL E G H6821272300Sulfite oxidase deficiency272300C0268624OMIM135311460606887
HP:0001276HP:0006986Upper limb spasticity2SUOX CL E G H6821272300Sulfite oxidase deficiency272300C0268624OMIM135311460606887
HP:0001276HP:0002491Spasticity of facial muscles2TERT CL E G H70153322ORPHA1281011730187270
HP:0001276HP:0200049Upper limb hypertonia2TERT CL E G H70153322ORPHA1281011730187270
HP:0001276HP:0006895Lower limb hypertonia2TERT CL E G H70153322ORPHA1281011730187270
HP:0001276HP:0002396Cogwheel rigidity2TERT CL E G H70153322ORPHA1281011730187270
HP:0001276HP:0025013Decerebrate rigidity2TERT CL E G H70153322ORPHA1281011730187270
HP:0001276HP:0011444Decorticate rigidity2TERT CL E G H70153322ORPHA1281011730187270
HP:0001276HP:0007076Extrapyramidal muscular rigidity2TERT CL E G H70153322ORPHA1281011730187270
HP:0001276HP:0031866Clasp-knife sign2TERT CL E G H70153322ORPHA1281011730187270
HP:0001276HP:0002061Lower limb spasticity2TERT CL E G H70153322ORPHA1281011730187270
HP:0001276HP:0002179Opisthotonus2TERT CL E G H70153322ORPHA1281011730187270
HP:0001276HP:0002191Progressive spasticity2TERT CL E G H70153322ORPHA1281011730187270
HP:0001276HP:0001264Spastic diplegia2TERT CL E G H70153322ORPHA1281011730187270
HP:0001276HP:0002464Spastic dysarthria2TERT CL E G H70153322ORPHA1281011730187270
HP:0001276HP:0002064Spastic gait2TERT CL E G H70153322ORPHA1281011730187270
HP:0001276HP:0011099Spastic hemiparesis2TERT CL E G H70153322ORPHA1281011730187270
HP:0001276HP:0001285Spastic tetraparesis2TERT CL E G H70153322ORPHA1281011730187270
HP:0001276HP:0002510Spastic tetraplegia2TERT CL E G H70153322ORPHA1281011730187270
HP:0001276HP:0002501Spasticity of pharyngeal muscles2TERT CL E G H70153322ORPHA1281011730187270
HP:0001276HP:0006986Upper limb spasticity2TERT CL E G H70153322ORPHA1281011730187270
HP:0001276HP:0002491Spasticity of facial muscles2TGFBR2 CL E G H7048144ORPHA194811773190182
HP:0001276HP:0200049Upper limb hypertonia2TGFBR2 CL E G H7048144ORPHA194811773190182
HP:0001276HP:0006895Lower limb hypertonia2TGFBR2 CL E G H7048144ORPHA194811773190182
HP:0001276HP:0002396Cogwheel rigidity2TGFBR2 CL E G H7048144ORPHA194811773190182
HP:0001276HP:0025013Decerebrate rigidity2TGFBR2 CL E G H7048144ORPHA194811773190182
HP:0001276HP:0011444Decorticate rigidity2TGFBR2 CL E G H7048144ORPHA194811773190182
HP:0001276HP:0007076Extrapyramidal muscular rigidity2TGFBR2 CL E G H7048144ORPHA194811773190182
HP:0001276HP:0031866Clasp-knife sign2TGFBR2 CL E G H7048144ORPHA194811773190182
HP:0001276HP:0002061Lower limb spasticity2TGFBR2 CL E G H7048144ORPHA194811773190182
HP:0001276HP:0002179Opisthotonus2TGFBR2 CL E G H7048144ORPHA194811773190182
HP:0001276HP:0002191Progressive spasticity2TGFBR2 CL E G H7048144ORPHA194811773190182
HP:0001276HP:0001264Spastic diplegia2TGFBR2 CL E G H7048144ORPHA194811773190182
HP:0001276HP:0002464Spastic dysarthria2TGFBR2 CL E G H7048144ORPHA194811773190182
HP:0001276HP:0002064Spastic gait2TGFBR2 CL E G H7048144ORPHA194811773190182
HP:0001276HP:0011099Spastic hemiparesis2TGFBR2 CL E G H7048144ORPHA194811773190182
HP:0001276HP:0001285Spastic tetraparesis2TGFBR2 CL E G H7048144ORPHA194811773190182
HP:0001276HP:0002510Spastic tetraplegia2TGFBR2 CL E G H7048144ORPHA194811773190182
HP:0001276HP:0002501Spasticity of pharyngeal muscles2TGFBR2 CL E G H7048144ORPHA194811773190182
HP:0001276HP:0006986Upper limb spasticity2TGFBR2 CL E G H7048144ORPHA194811773190182
HP:0001276HP:0002491Spasticity of facial muscles2TINF2 CL E G H262773322ORPHA141111824604319
HP:0001276HP:0200049Upper limb hypertonia2TINF2 CL E G H262773322ORPHA141111824604319
HP:0001276HP:0006895Lower limb hypertonia2TINF2 CL E G H262773322ORPHA141111824604319
HP:0001276HP:0002396Cogwheel rigidity2TINF2 CL E G H262773322ORPHA141111824604319
HP:0001276HP:0025013Decerebrate rigidity2TINF2 CL E G H262773322ORPHA141111824604319
HP:0001276HP:0011444Decorticate rigidity2TINF2 CL E G H262773322ORPHA141111824604319
HP:0001276HP:0007076Extrapyramidal muscular rigidity2TINF2 CL E G H262773322ORPHA141111824604319
HP:0001276HP:0031866Clasp-knife sign2TINF2 CL E G H262773322ORPHA141111824604319
HP:0001276HP:0002061Lower limb spasticity2TINF2 CL E G H262773322ORPHA141111824604319
HP:0001276HP:0002179Opisthotonus2TINF2 CL E G H262773322ORPHA141111824604319
HP:0001276HP:0002191Progressive spasticity2TINF2 CL E G H262773322ORPHA141111824604319
HP:0001276HP:0001264Spastic diplegia2TINF2 CL E G H262773322ORPHA141111824604319
HP:0001276HP:0002464Spastic dysarthria2TINF2 CL E G H262773322ORPHA141111824604319
HP:0001276HP:0002064Spastic gait2TINF2 CL E G H262773322ORPHA141111824604319
HP:0001276HP:0011099Spastic hemiparesis2TINF2 CL E G H262773322ORPHA141111824604319
HP:0001276HP:0001285Spastic tetraparesis2TINF2 CL E G H262773322ORPHA141111824604319
HP:0001276HP:0002510Spastic tetraplegia2TINF2 CL E G H262773322ORPHA141111824604319
HP:0001276HP:0002501Spasticity of pharyngeal muscles2TINF2 CL E G H262773322ORPHA141111824604319
HP:0001276HP:0006986Upper limb spasticity2TINF2 CL E G H262773322ORPHA141111824604319
HP:0001276HP:0002491Spasticity of facial muscles2TINF2 CL E G H26277268130Revesz syndrome268130C1327916OMIM141111824604319
HP:0001276HP:0200049Upper limb hypertonia2TINF2 CL E G H26277268130Revesz syndrome268130C1327916OMIM141111824604319
HP:0001276HP:0006895Lower limb hypertonia2TINF2 CL E G H26277268130Revesz syndrome268130C1327916OMIM141111824604319
HP:0001276HP:0002396Cogwheel rigidity2TINF2 CL E G H26277268130Revesz syndrome268130C1327916OMIM141111824604319
HP:0001276HP:0025013Decerebrate rigidity2TINF2 CL E G H26277268130Revesz syndrome268130C1327916OMIM141111824604319
HP:0001276HP:0011444Decorticate rigidity2TINF2 CL E G H26277268130Revesz syndrome268130C1327916OMIM141111824604319
HP:0001276HP:0007076Extrapyramidal muscular rigidity2TINF2 CL E G H26277268130Revesz syndrome268130C1327916OMIM141111824604319
HP:0001276HP:0031866Clasp-knife sign2TINF2 CL E G H26277268130Revesz syndrome268130C1327916OMIM141111824604319
HP:0001276HP:0002061Lower limb spasticity2TINF2 CL E G H26277268130Revesz syndrome268130C1327916OMIM141111824604319
HP:0001276HP:0002179Opisthotonus2TINF2 CL E G H26277268130Revesz syndrome268130C1327916OMIM141111824604319
HP:0001276HP:0002191Progressive spasticity2TINF2 CL E G H26277268130Revesz syndrome268130C1327916OMIM141111824604319
HP:0001276HP:0001264Spastic diplegia2TINF2 CL E G H26277268130Revesz syndrome268130C1327916OMIM141111824604319
HP:0001276HP:0002464Spastic dysarthria2TINF2 CL E G H26277268130Revesz syndrome268130C1327916OMIM141111824604319
HP:0001276HP:0002064Spastic gait2TINF2 CL E G H26277268130Revesz syndrome268130C1327916OMIM141111824604319
HP:0001276HP:0011099Spastic hemiparesis2TINF2 CL E G H26277268130Revesz syndrome268130C1327916OMIM141111824604319
HP:0001276HP:0001285Spastic tetraparesis2TINF2 CL E G H26277268130Revesz syndrome268130C1327916OMIM141111824604319
HP:0001276HP:0002510Spastic tetraplegia2TINF2 CL E G H26277268130Revesz syndrome268130C1327916OMIM141111824604319
HP:0001276HP:0002501Spasticity of pharyngeal muscles2TINF2 CL E G H26277268130Revesz syndrome268130C1327916OMIM141111824604319
HP:0001276HP:0006986Upper limb spasticity2TINF2 CL E G H26277268130Revesz syndrome268130C1327916OMIM141111824604319
HP:0001276HP:0002491Spasticity of facial muscles2TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0001276HP:0200049Upper limb hypertonia2TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0001276HP:0006895Lower limb hypertonia2TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0001276HP:0002396Cogwheel rigidity2TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0001276HP:0025013Decerebrate rigidity2TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0001276HP:0011444Decorticate rigidity2TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0001276HP:0007076Extrapyramidal muscular rigidity2TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0001276HP:0031866Clasp-knife sign2TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0001276HP:0002061Lower limb spasticity2TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0001276HP:0002179Opisthotonus2TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0001276HP:0002191Progressive spasticity2TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0001276HP:0001264Spastic diplegia2TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0001276HP:0002464Spastic dysarthria2TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0001276HP:0002064Spastic gait2TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0001276HP:0011099Spastic hemiparesis2TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0001276HP:0001285Spastic tetraparesis2TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0001276HP:0002510Spastic tetraplegia2TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0001276HP:0002501Spasticity of pharyngeal muscles2TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0001276HP:0006986Upper limb spasticity2TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0001276HP:0002491Spasticity of facial muscles2TOMM40 CL E G H104521020ORPHA12918001608061
HP:0001276HP:0200049Upper limb hypertonia2TOMM40 CL E G H104521020ORPHA12918001608061
HP:0001276HP:0006895Lower limb hypertonia2TOMM40 CL E G H104521020ORPHA12918001608061
HP:0001276HP:0002396Cogwheel rigidity2TOMM40 CL E G H104521020ORPHA12918001608061
HP:0001276HP:0025013Decerebrate rigidity2TOMM40 CL E G H104521020ORPHA12918001608061
HP:0001276HP:0011444Decorticate rigidity2TOMM40 CL E G H104521020ORPHA12918001608061
HP:0001276HP:0007076Extrapyramidal muscular rigidity2TOMM40 CL E G H104521020ORPHA12918001608061
HP:0001276HP:0031866Clasp-knife sign2TOMM40 CL E G H104521020ORPHA12918001608061
HP:0001276HP:0002061Lower limb spasticity2TOMM40 CL E G H104521020ORPHA12918001608061
HP:0001276HP:0002179Opisthotonus2TOMM40 CL E G H104521020ORPHA12918001608061
HP:0001276HP:0002191Progressive spasticity2TOMM40 CL E G H104521020ORPHA12918001608061
HP:0001276HP:0001264Spastic diplegia2TOMM40 CL E G H104521020ORPHA12918001608061
HP:0001276HP:0002464Spastic dysarthria2TOMM40 CL E G H104521020ORPHA12918001608061
HP:0001276HP:0002064Spastic gait2TOMM40 CL E G H104521020ORPHA12918001608061
HP:0001276HP:0011099Spastic hemiparesis2TOMM40 CL E G H104521020ORPHA12918001608061
HP:0001276HP:0001285Spastic tetraparesis2TOMM40 CL E G H104521020ORPHA12918001608061
HP:0001276HP:0002510Spastic tetraplegia2TOMM40 CL E G H104521020ORPHA12918001608061
HP:0001276HP:0002501Spasticity of pharyngeal muscles2TOMM40 CL E G H104521020ORPHA12918001608061
HP:0001276HP:0006986Upper limb spasticity2TOMM40 CL E G H104521020ORPHA12918001608061
HP:0001276HP:0002491Spasticity of facial muscles2TOR1A CL E G H1861128100Dystonia 1128100C1851945OMIM12203098605204
HP:0001276HP:0200049Upper limb hypertonia2TOR1A CL E G H1861128100Dystonia 1128100C1851945OMIM12203098605204
HP:0001276HP:0006895Lower limb hypertonia2TOR1A CL E G H1861128100Dystonia 1128100C1851945OMIM12203098605204
HP:0001276HP:0002396Cogwheel rigidity2TOR1A CL E G H1861128100Dystonia 1128100C1851945OMIM12203098605204
HP:0001276HP:0025013Decerebrate rigidity2TOR1A CL E G H1861128100Dystonia 1128100C1851945OMIM12203098605204
HP:0001276HP:0011444Decorticate rigidity2TOR1A CL E G H1861128100Dystonia 1128100C1851945OMIM12203098605204
HP:0001276HP:0007076Extrapyramidal muscular rigidity2TOR1A CL E G H1861128100Dystonia 1128100C1851945OMIM12203098605204
HP:0001276HP:0031866Clasp-knife sign2TOR1A CL E G H1861128100Dystonia 1128100C1851945OMIM12203098605204
HP:0001276HP:0002061Lower limb spasticity2TOR1A CL E G H1861128100Dystonia 1128100C1851945OMIM12203098605204
HP:0001276HP:0002179Opisthotonus2TOR1A CL E G H1861128100Dystonia 1128100C1851945OMIM12203098605204
HP:0001276HP:0002191Progressive spasticity2TOR1A CL E G H1861128100Dystonia 1128100C1851945OMIM12203098605204
HP:0001276HP:0001264Spastic diplegia2TOR1A CL E G H1861128100Dystonia 1128100C1851945OMIM12203098605204
HP:0001276HP:0002464Spastic dysarthria2TOR1A CL E G H1861128100Dystonia 1128100C1851945OMIM12203098605204
HP:0001276HP:0002064Spastic gait2TOR1A CL E G H1861128100Dystonia 1128100C1851945OMIM12203098605204
HP:0001276HP:0011099Spastic hemiparesis2TOR1A CL E G H1861128100Dystonia 1128100C1851945OMIM12203098605204
HP:0001276HP:0001285Spastic tetraparesis2TOR1A CL E G H1861128100Dystonia 1128100C1851945OMIM12203098605204
HP:0001276HP:0002510Spastic tetraplegia2TOR1A CL E G H1861128100Dystonia 1128100C1851945OMIM12203098605204
HP:0001276HP:0002501Spasticity of pharyngeal muscles2TOR1A CL E G H1861128100Dystonia 1128100C1851945OMIM12203098605204
HP:0001276HP:0006986Upper limb spasticity2TOR1A CL E G H1861128100Dystonia 1128100C1851945OMIM12203098605204
HP:0001276HP:0002491Spasticity of facial muscles2TOR1A CL E G H1861256Schrander-Stumpel Theunissen Hulsmans syndromeORPHA12203098605204
HP:0001276HP:0200049Upper limb hypertonia2TOR1A CL E G H1861256Schrander-Stumpel Theunissen Hulsmans syndromeORPHA12203098605204
HP:0001276HP:0006895Lower limb hypertonia2TOR1A CL E G H1861256Schrander-Stumpel Theunissen Hulsmans syndromeORPHA12203098605204
HP:0001276HP:0002396Cogwheel rigidity2TOR1A CL E G H1861256Schrander-Stumpel Theunissen Hulsmans syndromeORPHA12203098605204
HP:0001276HP:0025013Decerebrate rigidity2TOR1A CL E G H1861256Schrander-Stumpel Theunissen Hulsmans syndromeORPHA12203098605204
HP:0001276HP:0011444Decorticate rigidity2TOR1A CL E G H1861256Schrander-Stumpel Theunissen Hulsmans syndromeORPHA12203098605204
HP:0001276HP:0007076Extrapyramidal muscular rigidity2TOR1A CL E G H1861256Schrander-Stumpel Theunissen Hulsmans syndromeORPHA12203098605204
HP:0001276HP:0031866Clasp-knife sign2TOR1A CL E G H1861256Schrander-Stumpel Theunissen Hulsmans syndromeORPHA12203098605204
HP:0001276HP:0002061Lower limb spasticity2TOR1A CL E G H1861256Schrander-Stumpel Theunissen Hulsmans syndromeORPHA12203098605204
HP:0001276HP:0002179Opisthotonus2TOR1A CL E G H1861256Schrander-Stumpel Theunissen Hulsmans syndromeORPHA12203098605204
HP:0001276HP:0002191Progressive spasticity2TOR1A CL E G H1861256Schrander-Stumpel Theunissen Hulsmans syndromeORPHA12203098605204
HP:0001276HP:0001264Spastic diplegia2TOR1A CL E G H1861256Schrander-Stumpel Theunissen Hulsmans syndromeORPHA12203098605204
HP:0001276HP:0002464Spastic dysarthria2TOR1A CL E G H1861256Schrander-Stumpel Theunissen Hulsmans syndromeORPHA12203098605204
HP:0001276HP:0002064Spastic gait2TOR1A CL E G H1861256Schrander-Stumpel Theunissen Hulsmans syndromeORPHA12203098605204
HP:0001276HP:0011099Spastic hemiparesis2TOR1A CL E G H1861256Schrander-Stumpel Theunissen Hulsmans syndromeORPHA12203098605204
HP:0001276HP:0001285Spastic tetraparesis2TOR1A CL E G H1861256Schrander-Stumpel Theunissen Hulsmans syndromeORPHA12203098605204
HP:0001276HP:0002510Spastic tetraplegia2TOR1A CL E G H1861256Schrander-Stumpel Theunissen Hulsmans syndromeORPHA12203098605204
HP:0001276HP:0002501Spasticity of pharyngeal muscles2TOR1A CL E G H1861256Schrander-Stumpel Theunissen Hulsmans syndromeORPHA12203098605204
HP:0001276HP:0006986Upper limb spasticity2TOR1A CL E G H1861256Schrander-Stumpel Theunissen Hulsmans syndromeORPHA12203098605204
HP:0001276HP:0002491Spasticity of facial muscles2TRAF7 CL E G H84231618164CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY618164OMIM115520456606692
HP:0001276HP:0200049Upper limb hypertonia2TRAF7 CL E G H84231618164CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY618164OMIM115520456606692
HP:0001276HP:0006895Lower limb hypertonia2TRAF7 CL E G H84231618164CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY618164OMIM115520456606692
HP:0001276HP:0002396Cogwheel rigidity2TRAF7 CL E G H84231618164CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY618164OMIM115520456606692
HP:0001276HP:0025013Decerebrate rigidity2TRAF7 CL E G H84231618164CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY618164OMIM115520456606692
HP:0001276HP:0011444Decorticate rigidity2TRAF7 CL E G H84231618164CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY618164OMIM115520456606692
HP:0001276HP:0007076Extrapyramidal muscular rigidity2TRAF7 CL E G H84231618164CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY618164OMIM115520456606692
HP:0001276HP:0031866Clasp-knife sign2TRAF7 CL E G H84231618164CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY618164OMIM115520456606692
HP:0001276HP:0002061Lower limb spasticity2TRAF7 CL E G H84231618164CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY618164OMIM115520456606692
HP:0001276HP:0002179Opisthotonus2TRAF7 CL E G H84231618164CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY618164OMIM115520456606692
HP:0001276HP:0002191Progressive spasticity2TRAF7 CL E G H84231618164CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY618164OMIM115520456606692
HP:0001276HP:0001264Spastic diplegia2TRAF7 CL E G H84231618164CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY618164OMIM115520456606692
HP:0001276HP:0002464Spastic dysarthria2TRAF7 CL E G H84231618164CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY618164OMIM115520456606692
HP:0001276HP:0002064Spastic gait2TRAF7 CL E G H84231618164CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY618164OMIM115520456606692
HP:0001276HP:0011099Spastic hemiparesis2TRAF7 CL E G H84231618164CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY618164OMIM115520456606692
HP:0001276HP:0001285Spastic tetraparesis2TRAF7 CL E G H84231618164CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY618164OMIM115520456606692
HP:0001276HP:0002510Spastic tetraplegia2TRAF7 CL E G H84231618164CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY618164OMIM115520456606692
HP:0001276HP:0002501Spasticity of pharyngeal muscles2TRAF7 CL E G H84231618164CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY618164OMIM115520456606692
HP:0001276HP:0006986Upper limb spasticity2TRAF7 CL E G H84231618164CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY618164OMIM115520456606692
HP:0001276HP:0002491Spasticity of facial muscles2TREM2 CL E G H542091020ORPHA115417761605086
HP:0001276HP:0200049Upper limb hypertonia2TREM2 CL E G H542091020ORPHA115417761605086
HP:0001276HP:0006895Lower limb hypertonia2TREM2 CL E G H542091020ORPHA115417761605086
HP:0001276HP:0002396Cogwheel rigidity2TREM2 CL E G H542091020ORPHA115417761605086
HP:0001276HP:0025013Decerebrate rigidity2TREM2 CL E G H542091020ORPHA115417761605086
HP:0001276HP:0011444Decorticate rigidity2TREM2 CL E G H542091020ORPHA115417761605086
HP:0001276HP:0007076Extrapyramidal muscular rigidity2TREM2 CL E G H542091020ORPHA115417761605086
HP:0001276HP:0031866Clasp-knife sign2TREM2 CL E G H542091020ORPHA115417761605086
HP:0001276HP:0002061Lower limb spasticity2TREM2 CL E G H542091020ORPHA115417761605086
HP:0001276HP:0002179Opisthotonus2TREM2 CL E G H542091020ORPHA115417761605086
HP:0001276HP:0002191Progressive spasticity2TREM2 CL E G H542091020ORPHA115417761605086
HP:0001276HP:0001264Spastic diplegia2TREM2 CL E G H542091020ORPHA115417761605086
HP:0001276HP:0002464Spastic dysarthria2TREM2 CL E G H542091020ORPHA115417761605086
HP:0001276HP:0002064Spastic gait2TREM2 CL E G H542091020ORPHA115417761605086
HP:0001276HP:0011099Spastic hemiparesis2TREM2 CL E G H542091020ORPHA115417761605086
HP:0001276HP:0001285Spastic tetraparesis2TREM2 CL E G H542091020ORPHA115417761605086
HP:0001276HP:0002510Spastic tetraplegia2TREM2 CL E G H542091020ORPHA115417761605086
HP:0001276HP:0002501Spasticity of pharyngeal muscles2TREM2 CL E G H542091020ORPHA115417761605086
HP:0001276HP:0006986Upper limb spasticity2TREM2 CL E G H542091020ORPHA115417761605086
HP:0001276HP:0002491Spasticity of facial muscles2TUBGCP4 CL E G H272292518ORPHA147516691609610
HP:0001276HP:0200049Upper limb hypertonia2TUBGCP4 CL E G H272292518ORPHA147516691609610
HP:0001276HP:0006895Lower limb hypertonia2TUBGCP4 CL E G H272292518ORPHA147516691609610
HP:0001276HP:0002396Cogwheel rigidity2TUBGCP4 CL E G H272292518ORPHA147516691609610
HP:0001276HP:0025013Decerebrate rigidity2TUBGCP4 CL E G H272292518ORPHA147516691609610
HP:0001276HP:0011444Decorticate rigidity2TUBGCP4 CL E G H272292518ORPHA147516691609610
HP:0001276HP:0007076Extrapyramidal muscular rigidity2TUBGCP4 CL E G H272292518ORPHA147516691609610
HP:0001276HP:0031866Clasp-knife sign2TUBGCP4 CL E G H272292518ORPHA147516691609610
HP:0001276HP:0002061Lower limb spasticity2TUBGCP4 CL E G H272292518ORPHA147516691609610
HP:0001276HP:0002179Opisthotonus2TUBGCP4 CL E G H272292518ORPHA147516691609610
HP:0001276HP:0002191Progressive spasticity2TUBGCP4 CL E G H272292518ORPHA147516691609610
HP:0001276HP:0001264Spastic diplegia2TUBGCP4 CL E G H272292518ORPHA147516691609610
HP:0001276HP:0002464Spastic dysarthria2TUBGCP4 CL E G H272292518ORPHA147516691609610
HP:0001276HP:0002064Spastic gait2TUBGCP4 CL E G H272292518ORPHA147516691609610
HP:0001276HP:0011099Spastic hemiparesis2TUBGCP4 CL E G H272292518ORPHA147516691609610
HP:0001276HP:0001285Spastic tetraparesis2TUBGCP4 CL E G H272292518ORPHA147516691609610
HP:0001276HP:0002510Spastic tetraplegia2TUBGCP4 CL E G H272292518ORPHA147516691609610
HP:0001276HP:0002501Spasticity of pharyngeal muscles2TUBGCP4 CL E G H272292518ORPHA147516691609610
HP:0001276HP:0006986Upper limb spasticity2TUBGCP4 CL E G H272292518ORPHA147516691609610
HP:0001276HP:0002491Spasticity of facial muscles2TUBGCP6 CL E G H853782518ORPHA1199818127610053
HP:0001276HP:0200049Upper limb hypertonia2TUBGCP6 CL E G H853782518ORPHA1199818127610053
HP:0001276HP:0006895Lower limb hypertonia2TUBGCP6 CL E G H853782518ORPHA1199818127610053
HP:0001276HP:0002396Cogwheel rigidity2TUBGCP6 CL E G H853782518ORPHA1199818127610053
HP:0001276HP:0025013Decerebrate rigidity2TUBGCP6 CL E G H853782518ORPHA1199818127610053
HP:0001276HP:0011444Decorticate rigidity2TUBGCP6 CL E G H853782518ORPHA1199818127610053
HP:0001276HP:0007076Extrapyramidal muscular rigidity2TUBGCP6 CL E G H853782518ORPHA1199818127610053
HP:0001276HP:0031866Clasp-knife sign2TUBGCP6 CL E G H853782518ORPHA1199818127610053
HP:0001276HP:0002061Lower limb spasticity2TUBGCP6 CL E G H853782518ORPHA1199818127610053
HP:0001276HP:0002179Opisthotonus2TUBGCP6 CL E G H853782518ORPHA1199818127610053
HP:0001276HP:0002191Progressive spasticity2TUBGCP6 CL E G H853782518ORPHA1199818127610053
HP:0001276HP:0001264Spastic diplegia2TUBGCP6 CL E G H853782518ORPHA1199818127610053
HP:0001276HP:0002464Spastic dysarthria2TUBGCP6 CL E G H853782518ORPHA1199818127610053
HP:0001276HP:0002064Spastic gait2TUBGCP6 CL E G H853782518ORPHA1199818127610053
HP:0001276HP:0011099Spastic hemiparesis2TUBGCP6 CL E G H853782518ORPHA1199818127610053
HP:0001276HP:0001285Spastic tetraparesis2TUBGCP6 CL E G H853782518ORPHA1199818127610053
HP:0001276HP:0002510Spastic tetraplegia2TUBGCP6 CL E G H853782518ORPHA1199818127610053
HP:0001276HP:0002501Spasticity of pharyngeal muscles2TUBGCP6 CL E G H853782518ORPHA1199818127610053
HP:0001276HP:0006986Upper limb spasticity2TUBGCP6 CL E G H853782518ORPHA1199818127610053
HP:0001276HP:0002491Spasticity of facial muscles2VAC14 CL E G H55697617054Striatonigral degeneration, childhood-onset617054C4310743OMIM136725507604632
HP:0001276HP:0200049Upper limb hypertonia2VAC14 CL E G H55697617054Striatonigral degeneration, childhood-onset617054C4310743OMIM136725507604632
HP:0001276HP:0006895Lower limb hypertonia2VAC14 CL E G H55697617054Striatonigral degeneration, childhood-onset617054C4310743OMIM136725507604632
HP:0001276HP:0002396Cogwheel rigidity2VAC14 CL E G H55697617054Striatonigral degeneration, childhood-onset617054C4310743OMIM136725507604632
HP:0001276HP:0025013Decerebrate rigidity2VAC14 CL E G H55697617054Striatonigral degeneration, childhood-onset617054C4310743OMIM136725507604632
HP:0001276HP:0011444Decorticate rigidity2VAC14 CL E G H55697617054Striatonigral degeneration, childhood-onset617054C4310743OMIM136725507604632
HP:0001276HP:0007076Extrapyramidal muscular rigidity2VAC14 CL E G H55697617054Striatonigral degeneration, childhood-onset617054C4310743OMIM136725507604632
HP:0001276HP:0031866Clasp-knife sign2VAC14 CL E G H55697617054Striatonigral degeneration, childhood-onset617054C4310743OMIM136725507604632
HP:0001276HP:0002061Lower limb spasticity2VAC14 CL E G H55697617054Striatonigral degeneration, childhood-onset617054C4310743OMIM136725507604632
HP:0001276HP:0002179Opisthotonus2VAC14 CL E G H55697617054Striatonigral degeneration, childhood-onset617054C4310743OMIM136725507604632
HP:0001276HP:0002191Progressive spasticity2VAC14 CL E G H55697617054Striatonigral degeneration, childhood-onset617054C4310743OMIM136725507604632
HP:0001276HP:0001264Spastic diplegia2VAC14 CL E G H55697617054Striatonigral degeneration, childhood-onset617054C4310743OMIM136725507604632
HP:0001276HP:0002464Spastic dysarthria2VAC14 CL E G H55697617054Striatonigral degeneration, childhood-onset617054C4310743OMIM136725507604632
HP:0001276HP:0002064Spastic gait2VAC14 CL E G H55697617054Striatonigral degeneration, childhood-onset617054C4310743OMIM136725507604632
HP:0001276HP:0011099Spastic hemiparesis2VAC14 CL E G H55697617054Striatonigral degeneration, childhood-onset617054C4310743OMIM136725507604632
HP:0001276HP:0001285Spastic tetraparesis2VAC14 CL E G H55697617054Striatonigral degeneration, childhood-onset617054C4310743OMIM136725507604632
HP:0001276HP:0002510Spastic tetraplegia2VAC14 CL E G H55697617054Striatonigral degeneration, childhood-onset617054C4310743OMIM136725507604632
HP:0001276HP:0002501Spasticity of pharyngeal muscles2VAC14 CL E G H55697617054Striatonigral degeneration, childhood-onset617054C4310743OMIM136725507604632
HP:0001276HP:0006986Upper limb spasticity2VAC14 CL E G H55697617054Striatonigral degeneration, childhood-onset617054C4310743OMIM136725507604632
HP:0001276HP:0002491Spasticity of facial muscles2VPS37A CL E G H137492614898Spastic paraplegia 53, autosomal recessive614898C3539494OMIM125924928609927
HP:0001276HP:0200049Upper limb hypertonia2VPS37A CL E G H137492614898Spastic paraplegia 53, autosomal recessive614898C3539494OMIM125924928609927
HP:0001276HP:0006895Lower limb hypertonia2VPS37A CL E G H137492614898Spastic paraplegia 53, autosomal recessive614898C3539494OMIM125924928609927
HP:0001276HP:0002396Cogwheel rigidity2VPS37A CL E G H137492614898Spastic paraplegia 53, autosomal recessive614898C3539494OMIM125924928609927
HP:0001276HP:0025013Decerebrate rigidity2VPS37A CL E G H137492614898Spastic paraplegia 53, autosomal recessive614898C3539494OMIM125924928609927
HP:0001276HP:0011444Decorticate rigidity2VPS37A CL E G H137492614898Spastic paraplegia 53, autosomal recessive614898C3539494OMIM125924928609927
HP:0001276HP:0007076Extrapyramidal muscular rigidity2VPS37A CL E G H137492614898Spastic paraplegia 53, autosomal recessive614898C3539494OMIM125924928609927
HP:0001276HP:0031866Clasp-knife sign2VPS37A CL E G H137492614898Spastic paraplegia 53, autosomal recessive614898C3539494OMIM125924928609927
HP:0001276HP:0002061Lower limb spasticity2VPS37A CL E G H137492614898Spastic paraplegia 53, autosomal recessive614898C3539494OMIM125924928609927
HP:0001276HP:0002179Opisthotonus2VPS37A CL E G H137492614898Spastic paraplegia 53, autosomal recessive614898C3539494OMIM125924928609927
HP:0001276HP:0002191Progressive spasticity2VPS37A CL E G H137492614898Spastic paraplegia 53, autosomal recessive614898C3539494OMIM125924928609927
HP:0001276HP:0001264Spastic diplegia2VPS37A CL E G H137492614898Spastic paraplegia 53, autosomal recessive614898C3539494OMIM125924928609927
HP:0001276HP:0002464Spastic dysarthria2VPS37A CL E G H137492614898Spastic paraplegia 53, autosomal recessive614898C3539494OMIM125924928609927
HP:0001276HP:0002064Spastic gait2VPS37A CL E G H137492614898Spastic paraplegia 53, autosomal recessive614898C3539494OMIM125924928609927
HP:0001276HP:0011099Spastic hemiparesis2VPS37A CL E G H137492614898Spastic paraplegia 53, autosomal recessive614898C3539494OMIM125924928609927
HP:0001276HP:0001285Spastic tetraparesis2VPS37A CL E G H137492614898Spastic paraplegia 53, autosomal recessive614898C3539494OMIM125924928609927
HP:0001276HP:0002510Spastic tetraplegia2VPS37A CL E G H137492614898Spastic paraplegia 53, autosomal recessive614898C3539494OMIM125924928609927
HP:0001276HP:0002501Spasticity of pharyngeal muscles2VPS37A CL E G H137492614898Spastic paraplegia 53, autosomal recessive614898C3539494OMIM125924928609927
HP:0001276HP:0006986Upper limb spasticity2VPS37A CL E G H137492614898Spastic paraplegia 53, autosomal recessive614898C3539494OMIM125924928609927
HP:0001276HP:0002491Spasticity of facial muscles2ZSWIM6 CL E G H57688617865NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES617865CN800196OMIM165929316615951
HP:0001276HP:0200049Upper limb hypertonia2ZSWIM6 CL E G H57688617865NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES617865CN800196OMIM165929316615951
HP:0001276HP:0006895Lower limb hypertonia2ZSWIM6 CL E G H57688617865NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES617865CN800196OMIM165929316615951
HP:0001276HP:0002396Cogwheel rigidity2ZSWIM6 CL E G H57688617865NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES617865CN800196OMIM165929316615951
HP:0001276HP:0025013Decerebrate rigidity2ZSWIM6 CL E G H57688617865NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES617865CN800196OMIM165929316615951
HP:0001276HP:0011444Decorticate rigidity2ZSWIM6 CL E G H57688617865NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES617865CN800196OMIM165929316615951
HP:0001276HP:0007076Extrapyramidal muscular rigidity2ZSWIM6 CL E G H57688617865NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES617865CN800196OMIM165929316615951
HP:0001276HP:0031866Clasp-knife sign2ZSWIM6 CL E G H57688617865NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES617865CN800196OMIM165929316615951
HP:0001276HP:0002061Lower limb spasticity2ZSWIM6 CL E G H57688617865NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES617865CN800196OMIM165929316615951
HP:0001276HP:0002179Opisthotonus2ZSWIM6 CL E G H57688617865NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES617865CN800196OMIM165929316615951
HP:0001276HP:0002191Progressive spasticity2ZSWIM6 CL E G H57688617865NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES617865CN800196OMIM165929316615951
HP:0001276HP:0001264Spastic diplegia2ZSWIM6 CL E G H57688617865NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES617865CN800196OMIM165929316615951
HP:0001276HP:0002464Spastic dysarthria2ZSWIM6 CL E G H57688617865NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES617865CN800196OMIM165929316615951
HP:0001276HP:0002064Spastic gait2ZSWIM6 CL E G H57688617865NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES617865CN800196OMIM165929316615951
HP:0001276HP:0011099Spastic hemiparesis2ZSWIM6 CL E G H57688617865NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES617865CN800196OMIM165929316615951
HP:0001276HP:0001285Spastic tetraparesis2ZSWIM6 CL E G H57688617865NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES617865CN800196OMIM165929316615951
HP:0001276HP:0002510Spastic tetraplegia2ZSWIM6 CL E G H57688617865NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES617865CN800196OMIM165929316615951
HP:0001276HP:0002501Spasticity of pharyngeal muscles2ZSWIM6 CL E G H57688617865NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES617865CN800196OMIM165929316615951
HP:0001276HP:0006986Upper limb spasticity2ZSWIM6 CL E G H57688617865NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES617865CN800196OMIM165929316615951
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3ABCA7 CL E G H103471020ORPHA126937605414
HP:0001276HP:0002313Spastic paraparesis3ABCA7 CL E G H103471020ORPHA126937605414
HP:0001276HP:0001258Spastic paraplegia3ABCA7 CL E G H103471020ORPHA126937605414
HP:0001276HP:0002478Progressive spastic quadriplegia3ABCA7 CL E G H103471020ORPHA126937605414
HP:0001276HP:0031957Spastic hemiparetic gait3ABCA7 CL E G H103471020ORPHA126937605414
HP:0001276HP:0031958Spastic paraparetic gait3ABCA7 CL E G H103471020ORPHA126937605414
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3ACD CL E G H650573322ORPHA1104925070609377
HP:0001276HP:0002313Spastic paraparesis3ACD CL E G H650573322ORPHA1104925070609377
HP:0001276HP:0001258Spastic paraplegia3ACD CL E G H650573322ORPHA1104925070609377
HP:0001276HP:0002478Progressive spastic quadriplegia3ACD CL E G H650573322ORPHA1104925070609377
HP:0001276HP:0031957Spastic hemiparetic gait3ACD CL E G H650573322ORPHA1104925070609377
HP:0001276HP:0031958Spastic paraparetic gait3ACD CL E G H650573322ORPHA1104925070609377
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1665119609751
HP:0001276HP:0002313Spastic paraparesis3ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1665119609751
HP:0001276HP:0001258Spastic paraplegia3ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1665119609751
HP:0001276HP:0002478Progressive spastic quadriplegia3ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1665119609751
HP:0001276HP:0031957Spastic hemiparetic gait3ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1665119609751
HP:0001276HP:0031958Spastic paraparetic gait3ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1665119609751
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1480315604581
HP:0001276HP:0002313Spastic paraparesis3AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1480315604581
HP:0001276HP:0001258Spastic paraplegia3AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1480315604581
HP:0001276HP:0002478Progressive spastic quadriplegia3AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1480315604581
HP:0001276HP:0031957Spastic hemiparetic gait3AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1480315604581
HP:0001276HP:0031958Spastic paraparetic gait3AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1480315604581
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM121923056608750
HP:0001276HP:0002313Spastic paraparesis3ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM121923056608750
HP:0001276HP:0001258Spastic paraplegia3ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM121923056608750
HP:0001276HP:0002478Progressive spastic quadriplegia3ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM121923056608750
HP:0001276HP:0031957Spastic hemiparetic gait3ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM121923056608750
HP:0001276HP:0031958Spastic paraparetic gait3ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM121923056608750
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3APP CL E G H3511020ORPHA1506620104760
HP:0001276HP:0002313Spastic paraparesis3APP CL E G H3511020ORPHA1506620104760
HP:0001276HP:0001258Spastic paraplegia3APP CL E G H3511020ORPHA1506620104760
HP:0001276HP:0002478Progressive spastic quadriplegia3APP CL E G H3511020ORPHA1506620104760
HP:0001276HP:0031957Spastic hemiparetic gait3APP CL E G H3511020ORPHA1506620104760
HP:0001276HP:0031958Spastic paraparetic gait3APP CL E G H3511020ORPHA1506620104760
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3ARHGEF9 CL E G H23229300607Early infantile epileptic encephalopathy 8300607C1845102OMIM150914561300429
HP:0001276HP:0002313Spastic paraparesis3ARHGEF9 CL E G H23229300607Early infantile epileptic encephalopathy 8300607C1845102OMIM150914561300429
HP:0001276HP:0001258Spastic paraplegia3ARHGEF9 CL E G H23229300607Early infantile epileptic encephalopathy 8300607C1845102OMIM150914561300429
HP:0001276HP:0002478Progressive spastic quadriplegia3ARHGEF9 CL E G H23229300607Early infantile epileptic encephalopathy 8300607C1845102OMIM150914561300429
HP:0001276HP:0031957Spastic hemiparetic gait3ARHGEF9 CL E G H23229300607Early infantile epileptic encephalopathy 8300607C1845102OMIM150914561300429
HP:0001276HP:0031958Spastic paraparetic gait3ARHGEF9 CL E G H23229300607Early infantile epileptic encephalopathy 8300607C1845102OMIM150914561300429
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3ARV1 CL E G H64801617020Epileptic encephalopathy, early infantile, 38617020C4310762OMIM18929561611647
HP:0001276HP:0002313Spastic paraparesis3ARV1 CL E G H64801617020Epileptic encephalopathy, early infantile, 38617020C4310762OMIM18929561611647
HP:0001276HP:0001258Spastic paraplegia3ARV1 CL E G H64801617020Epileptic encephalopathy, early infantile, 38617020C4310762OMIM18929561611647
HP:0001276HP:0002478Progressive spastic quadriplegia3ARV1 CL E G H64801617020Epileptic encephalopathy, early infantile, 38617020C4310762OMIM18929561611647
HP:0001276HP:0031957Spastic hemiparetic gait3ARV1 CL E G H64801617020Epileptic encephalopathy, early infantile, 38617020C4310762OMIM18929561611647
HP:0001276HP:0031958Spastic paraparetic gait3ARV1 CL E G H64801617020Epileptic encephalopathy, early infantile, 38617020C4310762OMIM18929561611647
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001276HP:0002313Spastic paraparesis3ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001276HP:0001258Spastic paraplegia3ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001276HP:0002478Progressive spastic quadriplegia3ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001276HP:0031957Spastic hemiparetic gait3ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001276HP:0031958Spastic paraparetic gait3ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM118325903614452
HP:0001276HP:0002313Spastic paraparesis3ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM118325903614452
HP:0001276HP:0001258Spastic paraplegia3ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM118325903614452
HP:0001276HP:0002478Progressive spastic quadriplegia3ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM118325903614452
HP:0001276HP:0031957Spastic hemiparetic gait3ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM118325903614452
HP:0001276HP:0031958Spastic paraparetic gait3ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM118325903614452
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3ATP7A CL E G H538309400Menkes kinky-hair syndrome309400C0022716OMIM11751869300011
HP:0001276HP:0002313Spastic paraparesis3ATP7A CL E G H538309400Menkes kinky-hair syndrome309400C0022716OMIM11751869300011
HP:0001276HP:0001258Spastic paraplegia3ATP7A CL E G H538309400Menkes kinky-hair syndrome309400C0022716OMIM11751869300011
HP:0001276HP:0002478Progressive spastic quadriplegia3ATP7A CL E G H538309400Menkes kinky-hair syndrome309400C0022716OMIM11751869300011
HP:0001276HP:0031957Spastic hemiparetic gait3ATP7A CL E G H538309400Menkes kinky-hair syndrome309400C0022716OMIM11751869300011
HP:0001276HP:0031958Spastic paraparetic gait3ATP7A CL E G H538309400Menkes kinky-hair syndrome309400C0022716OMIM11751869300011
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3B3GALNT2 CL E G H148789588ORPHA158728596610194
HP:0001276HP:0002313Spastic paraparesis3B3GALNT2 CL E G H148789588ORPHA158728596610194
HP:0001276HP:0001258Spastic paraplegia3B3GALNT2 CL E G H148789588ORPHA158728596610194
HP:0001276HP:0002478Progressive spastic quadriplegia3B3GALNT2 CL E G H148789588ORPHA158728596610194
HP:0001276HP:0031957Spastic hemiparetic gait3B3GALNT2 CL E G H148789588ORPHA158728596610194
HP:0001276HP:0031958Spastic paraparetic gait3B3GALNT2 CL E G H148789588ORPHA158728596610194
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1596986608348
HP:0001276HP:0002313Spastic paraparesis3BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1596986608348
HP:0001276HP:0001258Spastic paraplegia3BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1596986608348
HP:0001276HP:0002478Progressive spastic quadriplegia3BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1596986608348
HP:0001276HP:0031957Spastic hemiparetic gait3BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1596986608348
HP:0001276HP:0031958Spastic paraparetic gait3BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1596986608348
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1647987248611
HP:0001276HP:0002313Spastic paraparesis3BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1647987248611
HP:0001276HP:0001258Spastic paraplegia3BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1647987248611
HP:0001276HP:0002478Progressive spastic quadriplegia3BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1647987248611
HP:0001276HP:0031957Spastic hemiparetic gait3BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1647987248611
HP:0001276HP:0031958Spastic paraparetic gait3BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1647987248611
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM111821097164757
HP:0001276HP:0002313Spastic paraparesis3BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM111821097164757
HP:0001276HP:0001258Spastic paraplegia3BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM111821097164757
HP:0001276HP:0002478Progressive spastic quadriplegia3BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM111821097164757
HP:0001276HP:0031957Spastic hemiparetic gait3BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM111821097164757
HP:0001276HP:0031958Spastic paraparetic gait3BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM111821097164757
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM1114721701614506
HP:0001276HP:0002313Spastic paraparesis3BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM1114721701614506
HP:0001276HP:0001258Spastic paraplegia3BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM1114721701614506
HP:0001276HP:0002478Progressive spastic quadriplegia3BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM1114721701614506
HP:0001276HP:0031957Spastic hemiparetic gait3BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM1114721701614506
HP:0001276HP:0031958Spastic paraparetic gait3BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM1114721701614506
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM1114721701614506
HP:0001276HP:0002313Spastic paraparesis3BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM1114721701614506
HP:0001276HP:0001258Spastic paraplegia3BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM1114721701614506
HP:0001276HP:0002478Progressive spastic quadriplegia3BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM1114721701614506
HP:0001276HP:0031957Spastic hemiparetic gait3BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM1114721701614506
HP:0001276HP:0031958Spastic paraparetic gait3BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM1114721701614506
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM132481388601011
HP:0001276HP:0002313Spastic paraparesis3CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM132481388601011
HP:0001276HP:0001258Spastic paraplegia3CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM132481388601011
HP:0001276HP:0002478Progressive spastic quadriplegia3CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM132481388601011
HP:0001276HP:0031957Spastic hemiparetic gait3CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM132481388601011
HP:0001276HP:0031958Spastic paraparetic gait3CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM132481388601011
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3CLCF1 CL E G H235291545Corsello Opitz syndromeORPHA13817412607672
HP:0001276HP:0002313Spastic paraparesis3CLCF1 CL E G H235291545Corsello Opitz syndromeORPHA13817412607672
HP:0001276HP:0001258Spastic paraplegia3CLCF1 CL E G H235291545Corsello Opitz syndromeORPHA13817412607672
HP:0001276HP:0002478Progressive spastic quadriplegia3CLCF1 CL E G H235291545Corsello Opitz syndromeORPHA13817412607672
HP:0001276HP:0031957Spastic hemiparetic gait3CLCF1 CL E G H235291545Corsello Opitz syndromeORPHA13817412607672
HP:0001276HP:0031958Spastic paraparetic gait3CLCF1 CL E G H235291545Corsello Opitz syndromeORPHA13817412607672
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3COG4 CL E G H25839613489Congenital disorder of glycosylation type 2J613489C3150736OMIM133918620606976
HP:0001276HP:0002313Spastic paraparesis3COG4 CL E G H25839613489Congenital disorder of glycosylation type 2J613489C3150736OMIM133918620606976
HP:0001276HP:0001258Spastic paraplegia3COG4 CL E G H25839613489Congenital disorder of glycosylation type 2J613489C3150736OMIM133918620606976
HP:0001276HP:0002478Progressive spastic quadriplegia3COG4 CL E G H25839613489Congenital disorder of glycosylation type 2J613489C3150736OMIM133918620606976
HP:0001276HP:0031957Spastic hemiparetic gait3COG4 CL E G H25839613489Congenital disorder of glycosylation type 2J613489C3150736OMIM133918620606976
HP:0001276HP:0031958Spastic paraparetic gait3COG4 CL E G H25839613489Congenital disorder of glycosylation type 2J613489C3150736OMIM133918620606976
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001276HP:0002313Spastic paraparesis3COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001276HP:0001258Spastic paraplegia3COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001276HP:0002478Progressive spastic quadriplegia3COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001276HP:0031957Spastic hemiparetic gait3COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001276HP:0031958Spastic paraparetic gait3COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3CP CL E G H135648818ORPHA18312295117700
HP:0001276HP:0002313Spastic paraparesis3CP CL E G H135648818ORPHA18312295117700
HP:0001276HP:0001258Spastic paraplegia3CP CL E G H135648818ORPHA18312295117700
HP:0001276HP:0002478Progressive spastic quadriplegia3CP CL E G H135648818ORPHA18312295117700
HP:0001276HP:0031957Spastic hemiparetic gait3CP CL E G H135648818ORPHA18312295117700
HP:0001276HP:0031958Spastic paraparetic gait3CP CL E G H135648818ORPHA18312295117700
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3CRLF1 CL E G H92441545Corsello Opitz syndromeORPHA11482364604237
HP:0001276HP:0002313Spastic paraparesis3CRLF1 CL E G H92441545Corsello Opitz syndromeORPHA11482364604237
HP:0001276HP:0001258Spastic paraplegia3CRLF1 CL E G H92441545Corsello Opitz syndromeORPHA11482364604237
HP:0001276HP:0002478Progressive spastic quadriplegia3CRLF1 CL E G H92441545Corsello Opitz syndromeORPHA11482364604237
HP:0001276HP:0031957Spastic hemiparetic gait3CRLF1 CL E G H92441545Corsello Opitz syndromeORPHA11482364604237
HP:0001276HP:0031958Spastic paraparetic gait3CRLF1 CL E G H92441545Corsello Opitz syndromeORPHA11482364604237
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3CYB5R3 CL E G H1727250800Deficiency of cytochrome-b5 reductase250800C0268193OMIM12152873613213
HP:0001276HP:0002313Spastic paraparesis3CYB5R3 CL E G H1727250800Deficiency of cytochrome-b5 reductase250800C0268193OMIM12152873613213
HP:0001276HP:0001258Spastic paraplegia3CYB5R3 CL E G H1727250800Deficiency of cytochrome-b5 reductase250800C0268193OMIM12152873613213
HP:0001276HP:0002478Progressive spastic quadriplegia3CYB5R3 CL E G H1727250800Deficiency of cytochrome-b5 reductase250800C0268193OMIM12152873613213
HP:0001276HP:0031957Spastic hemiparetic gait3CYB5R3 CL E G H1727250800Deficiency of cytochrome-b5 reductase250800C0268193OMIM12152873613213
HP:0001276HP:0031958Spastic paraparetic gait3CYB5R3 CL E G H1727250800Deficiency of cytochrome-b5 reductase250800C0268193OMIM12152873613213
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM16832698248610
HP:0001276HP:0002313Spastic paraparesis3DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM16832698248610
HP:0001276HP:0001258Spastic paraplegia3DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM16832698248610
HP:0001276HP:0002478Progressive spastic quadriplegia3DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM16832698248610
HP:0001276HP:0031957Spastic hemiparetic gait3DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM16832698248610
HP:0001276HP:0031958Spastic paraparetic gait3DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM16832698248610
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3DCX CL E G H16412148ORPHA14232714300121
HP:0001276HP:0002313Spastic paraparesis3DCX CL E G H16412148ORPHA14232714300121
HP:0001276HP:0001258Spastic paraplegia3DCX CL E G H16412148ORPHA14232714300121
HP:0001276HP:0002478Progressive spastic quadriplegia3DCX CL E G H16412148ORPHA14232714300121
HP:0001276HP:0031957Spastic hemiparetic gait3DCX CL E G H16412148ORPHA14232714300121
HP:0001276HP:0031958Spastic paraparetic gait3DCX CL E G H16412148ORPHA14232714300121
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM17792860602858
HP:0001276HP:0002313Spastic paraparesis3DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM17792860602858
HP:0001276HP:0001258Spastic paraplegia3DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM17792860602858
HP:0001276HP:0002478Progressive spastic quadriplegia3DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM17792860602858
HP:0001276HP:0031957Spastic hemiparetic gait3DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM17792860602858
HP:0001276HP:0031958Spastic paraparetic gait3DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM17792860602858
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3DKC1 CL E G H17363322ORPHA15342890300126
HP:0001276HP:0002313Spastic paraparesis3DKC1 CL E G H17363322ORPHA15342890300126
HP:0001276HP:0001258Spastic paraplegia3DKC1 CL E G H17363322ORPHA15342890300126
HP:0001276HP:0002478Progressive spastic quadriplegia3DKC1 CL E G H17363322ORPHA15342890300126
HP:0001276HP:0031957Spastic hemiparetic gait3DKC1 CL E G H17363322ORPHA15342890300126
HP:0001276HP:0031958Spastic paraparetic gait3DKC1 CL E G H17363322ORPHA15342890300126
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3DMPK CL E G H1760273ORPHA12732933605377
HP:0001276HP:0002313Spastic paraparesis3DMPK CL E G H1760273ORPHA12732933605377
HP:0001276HP:0001258Spastic paraplegia3DMPK CL E G H1760273ORPHA12732933605377
HP:0001276HP:0002478Progressive spastic quadriplegia3DMPK CL E G H1760273ORPHA12732933605377
HP:0001276HP:0031957Spastic hemiparetic gait3DMPK CL E G H1760273ORPHA12732933605377
HP:0001276HP:0031958Spastic paraparetic gait3DMPK CL E G H1760273ORPHA12732933605377
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3DNAJC12 CL E G H56521617384Hyperphenylalaninemia, mild, non-bh4-deficient617384C4479270OMIM111528908606060
HP:0001276HP:0002313Spastic paraparesis3DNAJC12 CL E G H56521617384Hyperphenylalaninemia, mild, non-bh4-deficient617384C4479270OMIM111528908606060
HP:0001276HP:0001258Spastic paraplegia3DNAJC12 CL E G H56521617384Hyperphenylalaninemia, mild, non-bh4-deficient617384C4479270OMIM111528908606060
HP:0001276HP:0002478Progressive spastic quadriplegia3DNAJC12 CL E G H56521617384Hyperphenylalaninemia, mild, non-bh4-deficient617384C4479270OMIM111528908606060
HP:0001276HP:0031957Spastic hemiparetic gait3DNAJC12 CL E G H56521617384Hyperphenylalaninemia, mild, non-bh4-deficient617384C4479270OMIM111528908606060
HP:0001276HP:0031958Spastic paraparetic gait3DNAJC12 CL E G H56521617384Hyperphenylalaninemia, mild, non-bh4-deficient617384C4479270OMIM111528908606060
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM13122995191350
HP:0001276HP:0002313Spastic paraparesis3DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM13122995191350
HP:0001276HP:0001258Spastic paraplegia3DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM13122995191350
HP:0001276HP:0002478Progressive spastic quadriplegia3DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM13122995191350
HP:0001276HP:0031957Spastic hemiparetic gait3DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM13122995191350
HP:0001276HP:0031958Spastic paraparetic gait3DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM13122995191350
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM14463012612779
HP:0001276HP:0002313Spastic paraparesis3DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM14463012612779
HP:0001276HP:0001258Spastic paraplegia3DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM14463012612779
HP:0001276HP:0002478Progressive spastic quadriplegia3DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM14463012612779
HP:0001276HP:0031957Spastic hemiparetic gait3DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM14463012612779
HP:0001276HP:0031958Spastic paraparetic gait3DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM14463012612779
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3EBP CL E G H10682300960MEND syndrome300960C4085243OMIM13173133300205
HP:0001276HP:0002313Spastic paraparesis3EBP CL E G H10682300960MEND syndrome300960C4085243OMIM13173133300205
HP:0001276HP:0001258Spastic paraplegia3EBP CL E G H10682300960MEND syndrome300960C4085243OMIM13173133300205
HP:0001276HP:0002478Progressive spastic quadriplegia3EBP CL E G H10682300960MEND syndrome300960C4085243OMIM13173133300205
HP:0001276HP:0031957Spastic hemiparetic gait3EBP CL E G H10682300960MEND syndrome300960C4085243OMIM13173133300205
HP:0001276HP:0031958Spastic paraparetic gait3EBP CL E G H10682300960MEND syndrome300960C4085243OMIM13173133300205
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3EIF2AK3 CL E G H9451226980Wolcott-Rallison dysplasia226980C0432217OMIM15203255604032
HP:0001276HP:0002313Spastic paraparesis3EIF2AK3 CL E G H9451226980Wolcott-Rallison dysplasia226980C0432217OMIM15203255604032
HP:0001276HP:0001258Spastic paraplegia3EIF2AK3 CL E G H9451226980Wolcott-Rallison dysplasia226980C0432217OMIM15203255604032
HP:0001276HP:0002478Progressive spastic quadriplegia3EIF2AK3 CL E G H9451226980Wolcott-Rallison dysplasia226980C0432217OMIM15203255604032
HP:0001276HP:0031957Spastic hemiparetic gait3EIF2AK3 CL E G H9451226980Wolcott-Rallison dysplasia226980C0432217OMIM15203255604032
HP:0001276HP:0031958Spastic paraparetic gait3EIF2AK3 CL E G H9451226980Wolcott-Rallison dysplasia226980C0432217OMIM15203255604032
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3EIF2S3 CL E G H196885282ORPHA12083267300161
HP:0001276HP:0002313Spastic paraparesis3EIF2S3 CL E G H196885282ORPHA12083267300161
HP:0001276HP:0001258Spastic paraplegia3EIF2S3 CL E G H196885282ORPHA12083267300161
HP:0001276HP:0002478Progressive spastic quadriplegia3EIF2S3 CL E G H196885282ORPHA12083267300161
HP:0001276HP:0031957Spastic hemiparetic gait3EIF2S3 CL E G H196885282ORPHA12083267300161
HP:0001276HP:0031958Spastic paraparetic gait3EIF2S3 CL E G H196885282ORPHA12083267300161
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3EPCAM CL E G H4072144ORPHA174411529185535
HP:0001276HP:0002313Spastic paraparesis3EPCAM CL E G H4072144ORPHA174411529185535
HP:0001276HP:0001258Spastic paraplegia3EPCAM CL E G H4072144ORPHA174411529185535
HP:0001276HP:0002478Progressive spastic quadriplegia3EPCAM CL E G H4072144ORPHA174411529185535
HP:0001276HP:0031957Spastic hemiparetic gait3EPCAM CL E G H4072144ORPHA174411529185535
HP:0001276HP:0031958Spastic paraparetic gait3EPCAM CL E G H4072144ORPHA174411529185535
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3ERCC1 CL E G H20671466ORPHA11613433126380
HP:0001276HP:0002313Spastic paraparesis3ERCC1 CL E G H20671466ORPHA11613433126380
HP:0001276HP:0001258Spastic paraplegia3ERCC1 CL E G H20671466ORPHA11613433126380
HP:0001276HP:0002478Progressive spastic quadriplegia3ERCC1 CL E G H20671466ORPHA11613433126380
HP:0001276HP:0031957Spastic hemiparetic gait3ERCC1 CL E G H20671466ORPHA11613433126380
HP:0001276HP:0031958Spastic paraparetic gait3ERCC1 CL E G H20671466ORPHA11613433126380
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11613433126380
HP:0001276HP:0002313Spastic paraparesis3ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11613433126380
HP:0001276HP:0001258Spastic paraplegia3ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11613433126380
HP:0001276HP:0002478Progressive spastic quadriplegia3ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11613433126380
HP:0001276HP:0031957Spastic hemiparetic gait3ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11613433126380
HP:0001276HP:0031958Spastic paraparetic gait3ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11613433126380
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3ERCC2 CL E G H20681466ORPHA115723434126340
HP:0001276HP:0002313Spastic paraparesis3ERCC2 CL E G H20681466ORPHA115723434126340
HP:0001276HP:0001258Spastic paraplegia3ERCC2 CL E G H20681466ORPHA115723434126340
HP:0001276HP:0002478Progressive spastic quadriplegia3ERCC2 CL E G H20681466ORPHA115723434126340
HP:0001276HP:0031957Spastic hemiparetic gait3ERCC2 CL E G H20681466ORPHA115723434126340
HP:0001276HP:0031958Spastic paraparetic gait3ERCC2 CL E G H20681466ORPHA115723434126340
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3ERCC5 CL E G H20731466ORPHA14913437133530
HP:0001276HP:0002313Spastic paraparesis3ERCC5 CL E G H20731466ORPHA14913437133530
HP:0001276HP:0001258Spastic paraplegia3ERCC5 CL E G H20731466ORPHA14913437133530
HP:0001276HP:0002478Progressive spastic quadriplegia3ERCC5 CL E G H20731466ORPHA14913437133530
HP:0001276HP:0031957Spastic hemiparetic gait3ERCC5 CL E G H20731466ORPHA14913437133530
HP:0001276HP:0031958Spastic paraparetic gait3ERCC5 CL E G H20731466ORPHA14913437133530
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3ERCC6 CL E G H20741466ORPHA116453438609413
HP:0001276HP:0002313Spastic paraparesis3ERCC6 CL E G H20741466ORPHA116453438609413
HP:0001276HP:0001258Spastic paraplegia3ERCC6 CL E G H20741466ORPHA116453438609413
HP:0001276HP:0002478Progressive spastic quadriplegia3ERCC6 CL E G H20741466ORPHA116453438609413
HP:0001276HP:0031957Spastic hemiparetic gait3ERCC6 CL E G H20741466ORPHA116453438609413
HP:0001276HP:0031958Spastic paraparetic gait3ERCC6 CL E G H20741466ORPHA116453438609413
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3EYA1 CL E G H21382792Hyperbilirubinemia type 1ORPHA15133519601653
HP:0001276HP:0002313Spastic paraparesis3EYA1 CL E G H21382792Hyperbilirubinemia type 1ORPHA15133519601653
HP:0001276HP:0001258Spastic paraplegia3EYA1 CL E G H21382792Hyperbilirubinemia type 1ORPHA15133519601653
HP:0001276HP:0002478Progressive spastic quadriplegia3EYA1 CL E G H21382792Hyperbilirubinemia type 1ORPHA15133519601653
HP:0001276HP:0031957Spastic hemiparetic gait3EYA1 CL E G H21382792Hyperbilirubinemia type 1ORPHA15133519601653
HP:0001276HP:0031958Spastic paraparetic gait3EYA1 CL E G H21382792Hyperbilirubinemia type 1ORPHA15133519601653
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0001276HP:0002313Spastic paraparesis3EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0001276HP:0001258Spastic paraplegia3EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0001276HP:0002478Progressive spastic quadriplegia3EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0001276HP:0031957Spastic hemiparetic gait3EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0001276HP:0031958Spastic paraparetic gait3EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3FAN1 CL E G H22909144ORPHA148229170613534
HP:0001276HP:0002313Spastic paraparesis3FAN1 CL E G H22909144ORPHA148229170613534
HP:0001276HP:0001258Spastic paraplegia3FAN1 CL E G H22909144ORPHA148229170613534
HP:0001276HP:0002478Progressive spastic quadriplegia3FAN1 CL E G H22909144ORPHA148229170613534
HP:0001276HP:0031957Spastic hemiparetic gait3FAN1 CL E G H22909144ORPHA148229170613534
HP:0001276HP:0031958Spastic paraparetic gait3FAN1 CL E G H22909144ORPHA148229170613534
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3FKRP CL E G H79147588ORPHA195017997606596
HP:0001276HP:0002313Spastic paraparesis3FKRP CL E G H79147588ORPHA195017997606596
HP:0001276HP:0001258Spastic paraplegia3FKRP CL E G H79147588ORPHA195017997606596
HP:0001276HP:0002478Progressive spastic quadriplegia3FKRP CL E G H79147588ORPHA195017997606596
HP:0001276HP:0031957Spastic hemiparetic gait3FKRP CL E G H79147588ORPHA195017997606596
HP:0001276HP:0031958Spastic paraparetic gait3FKRP CL E G H79147588ORPHA195017997606596
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3FKTN CL E G H2218588ORPHA19143622607440
HP:0001276HP:0002313Spastic paraparesis3FKTN CL E G H2218588ORPHA19143622607440
HP:0001276HP:0001258Spastic paraplegia3FKTN CL E G H2218588ORPHA19143622607440
HP:0001276HP:0002478Progressive spastic quadriplegia3FKTN CL E G H2218588ORPHA19143622607440
HP:0001276HP:0031957Spastic hemiparetic gait3FKTN CL E G H2218588ORPHA19143622607440
HP:0001276HP:0031958Spastic paraparetic gait3FKTN CL E G H2218588ORPHA19143622607440
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM124324678610966
HP:0001276HP:0002313Spastic paraparesis3FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM124324678610966
HP:0001276HP:0001258Spastic paraplegia3FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM124324678610966
HP:0001276HP:0002478Progressive spastic quadriplegia3FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM124324678610966
HP:0001276HP:0031957Spastic hemiparetic gait3FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM124324678610966
HP:0001276HP:0031958Spastic paraparetic gait3FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM124324678610966
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3GALC CL E G H2581245200Galactosylceramide beta-galactosidase deficiency245200C0023521OMIM111854115606890
HP:0001276HP:0002313Spastic paraparesis3GALC CL E G H2581245200Galactosylceramide beta-galactosidase deficiency245200C0023521OMIM111854115606890
HP:0001276HP:0001258Spastic paraplegia3GALC CL E G H2581245200Galactosylceramide beta-galactosidase deficiency245200C0023521OMIM111854115606890
HP:0001276HP:0002478Progressive spastic quadriplegia3GALC CL E G H2581245200Galactosylceramide beta-galactosidase deficiency245200C0023521OMIM111854115606890
HP:0001276HP:0031957Spastic hemiparetic gait3GALC CL E G H2581245200Galactosylceramide beta-galactosidase deficiency245200C0023521OMIM111854115606890
HP:0001276HP:0031958Spastic paraparetic gait3GALC CL E G H2581245200Galactosylceramide beta-galactosidase deficiency245200C0023521OMIM111854115606890
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM15884136601240
HP:0001276HP:0002313Spastic paraparesis3GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM15884136601240
HP:0001276HP:0001258Spastic paraplegia3GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM15884136601240
HP:0001276HP:0002478Progressive spastic quadriplegia3GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM15884136601240
HP:0001276HP:0031957Spastic hemiparetic gait3GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM15884136601240
HP:0001276HP:0031958Spastic paraparetic gait3GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM15884136601240
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3GBA CL E G H26292072ORPHA14177606463
HP:0001276HP:0002313Spastic paraparesis3GBA CL E G H26292072ORPHA14177606463
HP:0001276HP:0001258Spastic paraplegia3GBA CL E G H26292072ORPHA14177606463
HP:0001276HP:0002478Progressive spastic quadriplegia3GBA CL E G H26292072ORPHA14177606463
HP:0001276HP:0031957Spastic hemiparetic gait3GBA CL E G H26292072ORPHA14177606463
HP:0001276HP:0031958Spastic paraparetic gait3GBA CL E G H26292072ORPHA14177606463
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3GBA CL E G H262985212ORPHA14177606463
HP:0001276HP:0002313Spastic paraparesis3GBA CL E G H262985212ORPHA14177606463
HP:0001276HP:0001258Spastic paraplegia3GBA CL E G H262985212ORPHA14177606463
HP:0001276HP:0002478Progressive spastic quadriplegia3GBA CL E G H262985212ORPHA14177606463
HP:0001276HP:0031957Spastic hemiparetic gait3GBA CL E G H262985212ORPHA14177606463
HP:0001276HP:0031958Spastic paraparetic gait3GBA CL E G H262985212ORPHA14177606463
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3GLRA1 CL E G H2741149400Hyperekplexia hereditary149400C1835614OMIM14474326138491
HP:0001276HP:0002313Spastic paraparesis3GLRA1 CL E G H2741149400Hyperekplexia hereditary149400C1835614OMIM14474326138491
HP:0001276HP:0001258Spastic paraplegia3GLRA1 CL E G H2741149400Hyperekplexia hereditary149400C1835614OMIM14474326138491
HP:0001276HP:0002478Progressive spastic quadriplegia3GLRA1 CL E G H2741149400Hyperekplexia hereditary149400C1835614OMIM14474326138491
HP:0001276HP:0031957Spastic hemiparetic gait3GLRA1 CL E G H2741149400Hyperekplexia hereditary149400C1835614OMIM14474326138491
HP:0001276HP:0031958Spastic paraparetic gait3GLRA1 CL E G H2741149400Hyperekplexia hereditary149400C1835614OMIM14474326138491
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3GLRB CL E G H2743614619Hyperekplexia 2614619C3553291OMIM13794329138492
HP:0001276HP:0002313Spastic paraparesis3GLRB CL E G H2743614619Hyperekplexia 2614619C3553291OMIM13794329138492
HP:0001276HP:0001258Spastic paraplegia3GLRB CL E G H2743614619Hyperekplexia 2614619C3553291OMIM13794329138492
HP:0001276HP:0002478Progressive spastic quadriplegia3GLRB CL E G H2743614619Hyperekplexia 2614619C3553291OMIM13794329138492
HP:0001276HP:0031957Spastic hemiparetic gait3GLRB CL E G H2743614619Hyperekplexia 2614619C3553291OMIM13794329138492
HP:0001276HP:0031958Spastic paraparetic gait3GLRB CL E G H2743614619Hyperekplexia 2614619C3553291OMIM13794329138492
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001276HP:0002313Spastic paraparesis3GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001276HP:0001258Spastic paraplegia3GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001276HP:0002478Progressive spastic quadriplegia3GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001276HP:0031957Spastic hemiparetic gait3GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001276HP:0031958Spastic paraparetic gait3GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3GMPPB CL E G H29925588ORPHA136422932615320
HP:0001276HP:0002313Spastic paraparesis3GMPPB CL E G H29925588ORPHA136422932615320
HP:0001276HP:0001258Spastic paraplegia3GMPPB CL E G H29925588ORPHA136422932615320
HP:0001276HP:0002478Progressive spastic quadriplegia3GMPPB CL E G H29925588ORPHA136422932615320
HP:0001276HP:0031957Spastic hemiparetic gait3GMPPB CL E G H29925588ORPHA136422932615320
HP:0001276HP:0031958Spastic paraparetic gait3GMPPB CL E G H29925588ORPHA136422932615320
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3GMPPB CL E G H29925615351Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14615351C3809221OMIM136422932615320
HP:0001276HP:0002313Spastic paraparesis3GMPPB CL E G H29925615351Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14615351C3809221OMIM136422932615320
HP:0001276HP:0001258Spastic paraplegia3GMPPB CL E G H29925615351Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14615351C3809221OMIM136422932615320
HP:0001276HP:0002478Progressive spastic quadriplegia3GMPPB CL E G H29925615351Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14615351C3809221OMIM136422932615320
HP:0001276HP:0031957Spastic hemiparetic gait3GMPPB CL E G H29925615351Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14615351C3809221OMIM136422932615320
HP:0001276HP:0031958Spastic paraparetic gait3GMPPB CL E G H29925615351Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14615351C3809221OMIM136422932615320
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3GPHN CL E G H10243149400Hyperekplexia hereditary149400C1835614OMIM1147315465603930
HP:0001276HP:0002313Spastic paraparesis3GPHN CL E G H10243149400Hyperekplexia hereditary149400C1835614OMIM1147315465603930
HP:0001276HP:0001258Spastic paraplegia3GPHN CL E G H10243149400Hyperekplexia hereditary149400C1835614OMIM1147315465603930
HP:0001276HP:0002478Progressive spastic quadriplegia3GPHN CL E G H10243149400Hyperekplexia hereditary149400C1835614OMIM1147315465603930
HP:0001276HP:0031957Spastic hemiparetic gait3GPHN CL E G H10243149400Hyperekplexia hereditary149400C1835614OMIM1147315465603930
HP:0001276HP:0031958Spastic paraparetic gait3GPHN CL E G H10243149400Hyperekplexia hereditary149400C1835614OMIM1147315465603930
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3GRIN2D CL E G H2906617162Epileptic encephalopathy, early infantile, 46617162C4310687OMIM18234588602717
HP:0001276HP:0002313Spastic paraparesis3GRIN2D CL E G H2906617162Epileptic encephalopathy, early infantile, 46617162C4310687OMIM18234588602717
HP:0001276HP:0001258Spastic paraplegia3GRIN2D CL E G H2906617162Epileptic encephalopathy, early infantile, 46617162C4310687OMIM18234588602717
HP:0001276HP:0002478Progressive spastic quadriplegia3GRIN2D CL E G H2906617162Epileptic encephalopathy, early infantile, 46617162C4310687OMIM18234588602717
HP:0001276HP:0031957Spastic hemiparetic gait3GRIN2D CL E G H2906617162Epileptic encephalopathy, early infantile, 46617162C4310687OMIM18234588602717
HP:0001276HP:0031958Spastic paraparetic gait3GRIN2D CL E G H2906617162Epileptic encephalopathy, early infantile, 46617162C4310687OMIM18234588602717
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA138113315300269
HP:0001276HP:0002313Spastic paraparesis3HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA138113315300269
HP:0001276HP:0001258Spastic paraplegia3HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA138113315300269
HP:0001276HP:0002478Progressive spastic quadriplegia3HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA138113315300269
HP:0001276HP:0031957Spastic hemiparetic gait3HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA138113315300269
HP:0001276HP:0031958Spastic paraparetic gait3HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA138113315300269
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3HEXA CL E G H3073272800Tay-Sachs disease272800C0039373OMIM110024878606869
HP:0001276HP:0002313Spastic paraparesis3HEXA CL E G H3073272800Tay-Sachs disease272800C0039373OMIM110024878606869
HP:0001276HP:0001258Spastic paraplegia3HEXA CL E G H3073272800Tay-Sachs disease272800C0039373OMIM110024878606869
HP:0001276HP:0002478Progressive spastic quadriplegia3HEXA CL E G H3073272800Tay-Sachs disease272800C0039373OMIM110024878606869
HP:0001276HP:0031957Spastic hemiparetic gait3HEXA CL E G H3073272800Tay-Sachs disease272800C0039373OMIM110024878606869
HP:0001276HP:0031958Spastic paraparetic gait3HEXA CL E G H3073272800Tay-Sachs disease272800C0039373OMIM110024878606869
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3HIST1H1E CL E G H3008617537RAHMAN SYNDROME617537C4479637OMIM14718142220
HP:0001276HP:0002313Spastic paraparesis3HIST1H1E CL E G H3008617537RAHMAN SYNDROME617537C4479637OMIM14718142220
HP:0001276HP:0001258Spastic paraplegia3HIST1H1E CL E G H3008617537RAHMAN SYNDROME617537C4479637OMIM14718142220
HP:0001276HP:0002478Progressive spastic quadriplegia3HIST1H1E CL E G H3008617537RAHMAN SYNDROME617537C4479637OMIM14718142220
HP:0001276HP:0031957Spastic hemiparetic gait3HIST1H1E CL E G H3008617537RAHMAN SYNDROME617537C4479637OMIM14718142220
HP:0001276HP:0031958Spastic paraparetic gait3HIST1H1E CL E G H3008617537RAHMAN SYNDROME617537C4479637OMIM14718142220
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3HLCS CL E G H3141253270Holocarboxylase synthetase deficiency253270C0268581OMIM18854976609018
HP:0001276HP:0002313Spastic paraparesis3HLCS CL E G H3141253270Holocarboxylase synthetase deficiency253270C0268581OMIM18854976609018
HP:0001276HP:0001258Spastic paraplegia3HLCS CL E G H3141253270Holocarboxylase synthetase deficiency253270C0268581OMIM18854976609018
HP:0001276HP:0002478Progressive spastic quadriplegia3HLCS CL E G H3141253270Holocarboxylase synthetase deficiency253270C0268581OMIM18854976609018
HP:0001276HP:0031957Spastic hemiparetic gait3HLCS CL E G H3141253270Holocarboxylase synthetase deficiency253270C0268581OMIM18854976609018
HP:0001276HP:0031958Spastic paraparetic gait3HLCS CL E G H3141253270Holocarboxylase synthetase deficiency253270C0268581OMIM18854976609018
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3HNRNPH2 CL E G H3188300986Mental retardation, X-linked, syndromic, Bain type300986C4310814OMIM11965042300610
HP:0001276HP:0002313Spastic paraparesis3HNRNPH2 CL E G H3188300986Mental retardation, X-linked, syndromic, Bain type300986C4310814OMIM11965042300610
HP:0001276HP:0001258Spastic paraplegia3HNRNPH2 CL E G H3188300986Mental retardation, X-linked, syndromic, Bain type300986C4310814OMIM11965042300610
HP:0001276HP:0002478Progressive spastic quadriplegia3HNRNPH2 CL E G H3188300986Mental retardation, X-linked, syndromic, Bain type300986C4310814OMIM11965042300610
HP:0001276HP:0031957Spastic hemiparetic gait3HNRNPH2 CL E G H3188300986Mental retardation, X-linked, syndromic, Bain type300986C4310814OMIM11965042300610
HP:0001276HP:0031958Spastic paraparetic gait3HNRNPH2 CL E G H3188300986Mental retardation, X-linked, syndromic, Bain type300986C4310814OMIM11965042300610
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3HSPG2 CL E G H3339800ORPHA124975273142461
HP:0001276HP:0002313Spastic paraparesis3HSPG2 CL E G H3339800ORPHA124975273142461
HP:0001276HP:0001258Spastic paraplegia3HSPG2 CL E G H3339800ORPHA124975273142461
HP:0001276HP:0002478Progressive spastic quadriplegia3HSPG2 CL E G H3339800ORPHA124975273142461
HP:0001276HP:0031957Spastic hemiparetic gait3HSPG2 CL E G H3339800ORPHA124975273142461
HP:0001276HP:0031958Spastic paraparetic gait3HSPG2 CL E G H3339800ORPHA124975273142461
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM124414348606441
HP:0001276HP:0002313Spastic paraparesis3HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM124414348606441
HP:0001276HP:0001258Spastic paraplegia3HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM124414348606441
HP:0001276HP:0002478Progressive spastic quadriplegia3HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM124414348606441
HP:0001276HP:0031957Spastic hemiparetic gait3HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM124414348606441
HP:0001276HP:0031958Spastic paraparetic gait3HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM124414348606441
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3ITM2B CL E G H9445176500Dementia familial British176500C1867773OMIM11776174603904
HP:0001276HP:0002313Spastic paraparesis3ITM2B CL E G H9445176500Dementia familial British176500C1867773OMIM11776174603904
HP:0001276HP:0001258Spastic paraplegia3ITM2B CL E G H9445176500Dementia familial British176500C1867773OMIM11776174603904
HP:0001276HP:0002478Progressive spastic quadriplegia3ITM2B CL E G H9445176500Dementia familial British176500C1867773OMIM11776174603904
HP:0001276HP:0031957Spastic hemiparetic gait3ITM2B CL E G H9445176500Dementia familial British176500C1867773OMIM11776174603904
HP:0001276HP:0031958Spastic paraparetic gait3ITM2B CL E G H9445176500Dementia familial British176500C1867773OMIM11776174603904
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3KCNQ2 CL E G H3785306ORPHA119626296602235
HP:0001276HP:0002313Spastic paraparesis3KCNQ2 CL E G H3785306ORPHA119626296602235
HP:0001276HP:0001258Spastic paraplegia3KCNQ2 CL E G H3785306ORPHA119626296602235
HP:0001276HP:0002478Progressive spastic quadriplegia3KCNQ2 CL E G H3785306ORPHA119626296602235
HP:0001276HP:0031957Spastic hemiparetic gait3KCNQ2 CL E G H3785306ORPHA119626296602235
HP:0001276HP:0031958Spastic paraparetic gait3KCNQ2 CL E G H3785306ORPHA119626296602235
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3KCNQ2 CL E G H37851949Benign familial neonatal seizuresCN200689ORPHA119626296602235
HP:0001276HP:0002313Spastic paraparesis3KCNQ2 CL E G H37851949Benign familial neonatal seizuresCN200689ORPHA119626296602235
HP:0001276HP:0001258Spastic paraplegia3KCNQ2 CL E G H37851949Benign familial neonatal seizuresCN200689ORPHA119626296602235
HP:0001276HP:0002478Progressive spastic quadriplegia3KCNQ2 CL E G H37851949Benign familial neonatal seizuresCN200689ORPHA119626296602235
HP:0001276HP:0031957Spastic hemiparetic gait3KCNQ2 CL E G H37851949Benign familial neonatal seizuresCN200689ORPHA119626296602235
HP:0001276HP:0031958Spastic paraparetic gait3KCNQ2 CL E G H37851949Benign familial neonatal seizuresCN200689ORPHA119626296602235
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3KCNQ3 CL E G H3786306ORPHA112276297602232
HP:0001276HP:0002313Spastic paraparesis3KCNQ3 CL E G H3786306ORPHA112276297602232
HP:0001276HP:0001258Spastic paraplegia3KCNQ3 CL E G H3786306ORPHA112276297602232
HP:0001276HP:0002478Progressive spastic quadriplegia3KCNQ3 CL E G H3786306ORPHA112276297602232
HP:0001276HP:0031957Spastic hemiparetic gait3KCNQ3 CL E G H3786306ORPHA112276297602232
HP:0001276HP:0031958Spastic paraparetic gait3KCNQ3 CL E G H3786306ORPHA112276297602232
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3KCNQ3 CL E G H37861949Benign familial neonatal seizuresCN200689ORPHA112276297602232
HP:0001276HP:0002313Spastic paraparesis3KCNQ3 CL E G H37861949Benign familial neonatal seizuresCN200689ORPHA112276297602232
HP:0001276HP:0001258Spastic paraplegia3KCNQ3 CL E G H37861949Benign familial neonatal seizuresCN200689ORPHA112276297602232
HP:0001276HP:0002478Progressive spastic quadriplegia3KCNQ3 CL E G H37861949Benign familial neonatal seizuresCN200689ORPHA112276297602232
HP:0001276HP:0031957Spastic hemiparetic gait3KCNQ3 CL E G H37861949Benign familial neonatal seizuresCN200689ORPHA112276297602232
HP:0001276HP:0031958Spastic paraparetic gait3KCNQ3 CL E G H37861949Benign familial neonatal seizuresCN200689ORPHA112276297602232
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA120737132159555
HP:0001276HP:0002313Spastic paraparesis3KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA120737132159555
HP:0001276HP:0001258Spastic paraplegia3KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA120737132159555
HP:0001276HP:0002478Progressive spastic quadriplegia3KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA120737132159555
HP:0001276HP:0031957Spastic hemiparetic gait3KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA120737132159555
HP:0001276HP:0031958Spastic paraparetic gait3KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA120737132159555
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3KRAS CL E G H3845144ORPHA14806407190070
HP:0001276HP:0002313Spastic paraparesis3KRAS CL E G H3845144ORPHA14806407190070
HP:0001276HP:0001258Spastic paraplegia3KRAS CL E G H3845144ORPHA14806407190070
HP:0001276HP:0002478Progressive spastic quadriplegia3KRAS CL E G H3845144ORPHA14806407190070
HP:0001276HP:0031957Spastic hemiparetic gait3KRAS CL E G H3845144ORPHA14806407190070
HP:0001276HP:0031958Spastic paraparetic gait3KRAS CL E G H3845144ORPHA14806407190070
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3KYNU CL E G H894279155ORPHA1816469605197
HP:0001276HP:0002313Spastic paraparesis3KYNU CL E G H894279155ORPHA1816469605197
HP:0001276HP:0001258Spastic paraplegia3KYNU CL E G H894279155ORPHA1816469605197
HP:0001276HP:0002478Progressive spastic quadriplegia3KYNU CL E G H894279155ORPHA1816469605197
HP:0001276HP:0031957Spastic hemiparetic gait3KYNU CL E G H894279155ORPHA1816469605197
HP:0001276HP:0031958Spastic paraparetic gait3KYNU CL E G H894279155ORPHA1816469605197
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3KYNU CL E G H8942236800Hydroxykynureninuria236800C0268474OMIM1816469605197
HP:0001276HP:0002313Spastic paraparesis3KYNU CL E G H8942236800Hydroxykynureninuria236800C0268474OMIM1816469605197
HP:0001276HP:0001258Spastic paraplegia3KYNU CL E G H8942236800Hydroxykynureninuria236800C0268474OMIM1816469605197
HP:0001276HP:0002478Progressive spastic quadriplegia3KYNU CL E G H8942236800Hydroxykynureninuria236800C0268474OMIM1816469605197
HP:0001276HP:0031957Spastic hemiparetic gait3KYNU CL E G H8942236800Hydroxykynureninuria236800C0268474OMIM1816469605197
HP:0001276HP:0031958Spastic paraparetic gait3KYNU CL E G H8942236800Hydroxykynureninuria236800C0268474OMIM1816469605197
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3LARGE1 CL E G H9215588ORPHA17866511603590
HP:0001276HP:0002313Spastic paraparesis3LARGE1 CL E G H9215588ORPHA17866511603590
HP:0001276HP:0001258Spastic paraplegia3LARGE1 CL E G H9215588ORPHA17866511603590
HP:0001276HP:0002478Progressive spastic quadriplegia3LARGE1 CL E G H9215588ORPHA17866511603590
HP:0001276HP:0031957Spastic hemiparetic gait3LARGE1 CL E G H9215588ORPHA17866511603590
HP:0001276HP:0031958Spastic paraparetic gait3LARGE1 CL E G H9215588ORPHA17866511603590
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3MBOAT7 CL E G H79143617188Mental retardation, autosomal recessive 57617188C4310673OMIM111315505606048
HP:0001276HP:0002313Spastic paraparesis3MBOAT7 CL E G H79143617188Mental retardation, autosomal recessive 57617188C4310673OMIM111315505606048
HP:0001276HP:0001258Spastic paraplegia3MBOAT7 CL E G H79143617188Mental retardation, autosomal recessive 57617188C4310673OMIM111315505606048
HP:0001276HP:0002478Progressive spastic quadriplegia3MBOAT7 CL E G H79143617188Mental retardation, autosomal recessive 57617188C4310673OMIM111315505606048
HP:0001276HP:0031957Spastic hemiparetic gait3MBOAT7 CL E G H79143617188Mental retardation, autosomal recessive 57617188C4310673OMIM111315505606048
HP:0001276HP:0031958Spastic paraparetic gait3MBOAT7 CL E G H79143617188Mental retardation, autosomal recessive 57617188C4310673OMIM111315505606048
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM1122216877608507
HP:0001276HP:0002313Spastic paraparesis3MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM1122216877608507
HP:0001276HP:0001258Spastic paraplegia3MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM1122216877608507
HP:0001276HP:0002478Progressive spastic quadriplegia3MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM1122216877608507
HP:0001276HP:0031957Spastic hemiparetic gait3MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM1122216877608507
HP:0001276HP:0031958Spastic paraparetic gait3MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM1122216877608507
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11487045602616
HP:0001276HP:0002313Spastic paraparesis3MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11487045602616
HP:0001276HP:0001258Spastic paraplegia3MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11487045602616
HP:0001276HP:0002478Progressive spastic quadriplegia3MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11487045602616
HP:0001276HP:0031957Spastic hemiparetic gait3MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11487045602616
HP:0001276HP:0031958Spastic paraparetic gait3MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11487045602616
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3MIPEP CL E G H4285617228Combined oxidative phosphorylation deficiency 31617228C4310661OMIM12647104602241
HP:0001276HP:0002313Spastic paraparesis3MIPEP CL E G H4285617228Combined oxidative phosphorylation deficiency 31617228C4310661OMIM12647104602241
HP:0001276HP:0001258Spastic paraplegia3MIPEP CL E G H4285617228Combined oxidative phosphorylation deficiency 31617228C4310661OMIM12647104602241
HP:0001276HP:0002478Progressive spastic quadriplegia3MIPEP CL E G H4285617228Combined oxidative phosphorylation deficiency 31617228C4310661OMIM12647104602241
HP:0001276HP:0031957Spastic hemiparetic gait3MIPEP CL E G H4285617228Combined oxidative phosphorylation deficiency 31617228C4310661OMIM12647104602241
HP:0001276HP:0031958Spastic paraparetic gait3MIPEP CL E G H4285617228Combined oxidative phosphorylation deficiency 31617228C4310661OMIM12647104602241
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3MLH1 CL E G H4292144ORPHA151227127120436
HP:0001276HP:0002313Spastic paraparesis3MLH1 CL E G H4292144ORPHA151227127120436
HP:0001276HP:0001258Spastic paraplegia3MLH1 CL E G H4292144ORPHA151227127120436
HP:0001276HP:0002478Progressive spastic quadriplegia3MLH1 CL E G H4292144ORPHA151227127120436
HP:0001276HP:0031957Spastic hemiparetic gait3MLH1 CL E G H4292144ORPHA151227127120436
HP:0001276HP:0031958Spastic paraparetic gait3MLH1 CL E G H4292144ORPHA151227127120436
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3MLH3 CL E G H27030144ORPHA122107128604395
HP:0001276HP:0002313Spastic paraparesis3MLH3 CL E G H27030144ORPHA122107128604395
HP:0001276HP:0001258Spastic paraplegia3MLH3 CL E G H27030144ORPHA122107128604395
HP:0001276HP:0002478Progressive spastic quadriplegia3MLH3 CL E G H27030144ORPHA122107128604395
HP:0001276HP:0031957Spastic hemiparetic gait3MLH3 CL E G H27030144ORPHA122107128604395
HP:0001276HP:0031958Spastic paraparetic gait3MLH3 CL E G H27030144ORPHA122107128604395
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3MSH2 CL E G H4436144ORPHA168567325609309
HP:0001276HP:0002313Spastic paraparesis3MSH2 CL E G H4436144ORPHA168567325609309
HP:0001276HP:0001258Spastic paraplegia3MSH2 CL E G H4436144ORPHA168567325609309
HP:0001276HP:0002478Progressive spastic quadriplegia3MSH2 CL E G H4436144ORPHA168567325609309
HP:0001276HP:0031957Spastic hemiparetic gait3MSH2 CL E G H4436144ORPHA168567325609309
HP:0001276HP:0031958Spastic paraparetic gait3MSH2 CL E G H4436144ORPHA168567325609309
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3MSH6 CL E G H2956144ORPHA184387329600678
HP:0001276HP:0002313Spastic paraparesis3MSH6 CL E G H2956144ORPHA184387329600678
HP:0001276HP:0001258Spastic paraplegia3MSH6 CL E G H2956144ORPHA184387329600678
HP:0001276HP:0002478Progressive spastic quadriplegia3MSH6 CL E G H2956144ORPHA184387329600678
HP:0001276HP:0031957Spastic hemiparetic gait3MSH6 CL E G H2956144ORPHA184387329600678
HP:0001276HP:0031958Spastic paraparetic gait3MSH6 CL E G H2956144ORPHA184387329600678
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3MYO5A CL E G H464479476ORPHA13377602160777
HP:0001276HP:0002313Spastic paraparesis3MYO5A CL E G H464479476ORPHA13377602160777
HP:0001276HP:0001258Spastic paraplegia3MYO5A CL E G H464479476ORPHA13377602160777
HP:0001276HP:0002478Progressive spastic quadriplegia3MYO5A CL E G H464479476ORPHA13377602160777
HP:0001276HP:0031957Spastic hemiparetic gait3MYO5A CL E G H464479476ORPHA13377602160777
HP:0001276HP:0031958Spastic paraparetic gait3MYO5A CL E G H464479476ORPHA13377602160777
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3NAA10 CL E G H8260300855N-terminal acetyltransferase deficiency300855C3275447OMIM140118704300013
HP:0001276HP:0002313Spastic paraparesis3NAA10 CL E G H8260300855N-terminal acetyltransferase deficiency300855C3275447OMIM140118704300013
HP:0001276HP:0001258Spastic paraplegia3NAA10 CL E G H8260300855N-terminal acetyltransferase deficiency300855C3275447OMIM140118704300013
HP:0001276HP:0002478Progressive spastic quadriplegia3NAA10 CL E G H8260300855N-terminal acetyltransferase deficiency300855C3275447OMIM140118704300013
HP:0001276HP:0031957Spastic hemiparetic gait3NAA10 CL E G H8260300855N-terminal acetyltransferase deficiency300855C3275447OMIM140118704300013
HP:0001276HP:0031958Spastic paraparetic gait3NAA10 CL E G H8260300855N-terminal acetyltransferase deficiency300855C3275447OMIM140118704300013
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3NECAP1 CL E G H25977615833Early infantile epileptic encephalopathy 21615833C4014430OMIM122124539611623
HP:0001276HP:0002313Spastic paraparesis3NECAP1 CL E G H25977615833Early infantile epileptic encephalopathy 21615833C4014430OMIM122124539611623
HP:0001276HP:0001258Spastic paraplegia3NECAP1 CL E G H25977615833Early infantile epileptic encephalopathy 21615833C4014430OMIM122124539611623
HP:0001276HP:0002478Progressive spastic quadriplegia3NECAP1 CL E G H25977615833Early infantile epileptic encephalopathy 21615833C4014430OMIM122124539611623
HP:0001276HP:0031957Spastic hemiparetic gait3NECAP1 CL E G H25977615833Early infantile epileptic encephalopathy 21615833C4014430OMIM122124539611623
HP:0001276HP:0031958Spastic paraparetic gait3NECAP1 CL E G H25977615833Early infantile epileptic encephalopathy 21615833C4014430OMIM122124539611623
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA1154228862608667
HP:0001276HP:0002313Spastic paraparesis3NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA1154228862608667
HP:0001276HP:0001258Spastic paraplegia3NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA1154228862608667
HP:0001276HP:0002478Progressive spastic quadriplegia3NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA1154228862608667
HP:0001276HP:0031957Spastic hemiparetic gait3NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA1154228862608667
HP:0001276HP:0031958Spastic paraparetic gait3NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA1154228862608667
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1154228862608667
HP:0001276HP:0002313Spastic paraparesis3NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1154228862608667
HP:0001276HP:0001258Spastic paraplegia3NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1154228862608667
HP:0001276HP:0002478Progressive spastic quadriplegia3NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1154228862608667
HP:0001276HP:0031957Spastic hemiparetic gait3NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1154228862608667
HP:0001276HP:0031958Spastic paraparetic gait3NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1154228862608667
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3OGDH CL E G H496731Serpiginous choroiditisORPHA11718124613022
HP:0001276HP:0002313Spastic paraparesis3OGDH CL E G H496731Serpiginous choroiditisORPHA11718124613022
HP:0001276HP:0001258Spastic paraplegia3OGDH CL E G H496731Serpiginous choroiditisORPHA11718124613022
HP:0001276HP:0002478Progressive spastic quadriplegia3OGDH CL E G H496731Serpiginous choroiditisORPHA11718124613022
HP:0001276HP:0031957Spastic hemiparetic gait3OGDH CL E G H496731Serpiginous choroiditisORPHA11718124613022
HP:0001276HP:0031958Spastic paraparetic gait3OGDH CL E G H496731Serpiginous choroiditisORPHA11718124613022
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3PAH CL E G H505379254ORPHA114468582612349
HP:0001276HP:0002313Spastic paraparesis3PAH CL E G H505379254ORPHA114468582612349
HP:0001276HP:0001258Spastic paraplegia3PAH CL E G H505379254ORPHA114468582612349
HP:0001276HP:0002478Progressive spastic quadriplegia3PAH CL E G H505379254ORPHA114468582612349
HP:0001276HP:0031957Spastic hemiparetic gait3PAH CL E G H505379254ORPHA114468582612349
HP:0001276HP:0031958Spastic paraparetic gait3PAH CL E G H505379254ORPHA114468582612349
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3PARN CL E G H50733322ORPHA16278609604212
HP:0001276HP:0002313Spastic paraparesis3PARN CL E G H50733322ORPHA16278609604212
HP:0001276HP:0001258Spastic paraplegia3PARN CL E G H50733322ORPHA16278609604212
HP:0001276HP:0002478Progressive spastic quadriplegia3PARN CL E G H50733322ORPHA16278609604212
HP:0001276HP:0031957Spastic hemiparetic gait3PARN CL E G H50733322ORPHA16278609604212
HP:0001276HP:0031958Spastic paraparetic gait3PARN CL E G H50733322ORPHA16278609604212
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3PAX1 CL E G H50752792Hyperbilirubinemia type 1ORPHA13588615167411
HP:0001276HP:0002313Spastic paraparesis3PAX1 CL E G H50752792Hyperbilirubinemia type 1ORPHA13588615167411
HP:0001276HP:0001258Spastic paraplegia3PAX1 CL E G H50752792Hyperbilirubinemia type 1ORPHA13588615167411
HP:0001276HP:0002478Progressive spastic quadriplegia3PAX1 CL E G H50752792Hyperbilirubinemia type 1ORPHA13588615167411
HP:0001276HP:0031957Spastic hemiparetic gait3PAX1 CL E G H50752792Hyperbilirubinemia type 1ORPHA13588615167411
HP:0001276HP:0031958Spastic paraparetic gait3PAX1 CL E G H50752792Hyperbilirubinemia type 1ORPHA13588615167411
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3PCBD1 CL E G H5092264070Hyperphenylalaninemia, BH4-deficient, D264070C1849700OMIM1918646126090
HP:0001276HP:0002313Spastic paraparesis3PCBD1 CL E G H5092264070Hyperphenylalaninemia, BH4-deficient, D264070C1849700OMIM1918646126090
HP:0001276HP:0001258Spastic paraplegia3PCBD1 CL E G H5092264070Hyperphenylalaninemia, BH4-deficient, D264070C1849700OMIM1918646126090
HP:0001276HP:0002478Progressive spastic quadriplegia3PCBD1 CL E G H5092264070Hyperphenylalaninemia, BH4-deficient, D264070C1849700OMIM1918646126090
HP:0001276HP:0031957Spastic hemiparetic gait3PCBD1 CL E G H5092264070Hyperphenylalaninemia, BH4-deficient, D264070C1849700OMIM1918646126090
HP:0001276HP:0031958Spastic paraparetic gait3PCBD1 CL E G H5092264070Hyperphenylalaninemia, BH4-deficient, D264070C1849700OMIM1918646126090
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3PIK3CA CL E G H5290144ORPHA111598975171834
HP:0001276HP:0002313Spastic paraparesis3PIK3CA CL E G H5290144ORPHA111598975171834
HP:0001276HP:0001258Spastic paraplegia3PIK3CA CL E G H5290144ORPHA111598975171834
HP:0001276HP:0002478Progressive spastic quadriplegia3PIK3CA CL E G H5290144ORPHA111598975171834
HP:0001276HP:0031957Spastic hemiparetic gait3PIK3CA CL E G H5290144ORPHA111598975171834
HP:0001276HP:0031958Spastic paraparetic gait3PIK3CA CL E G H5290144ORPHA111598975171834
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3PITX3 CL E G H5309610623Cataract 11610623C1864567OMIM1549006602669
HP:0001276HP:0002313Spastic paraparesis3PITX3 CL E G H5309610623Cataract 11610623C1864567OMIM1549006602669
HP:0001276HP:0001258Spastic paraplegia3PITX3 CL E G H5309610623Cataract 11610623C1864567OMIM1549006602669
HP:0001276HP:0002478Progressive spastic quadriplegia3PITX3 CL E G H5309610623Cataract 11610623C1864567OMIM1549006602669
HP:0001276HP:0031957Spastic hemiparetic gait3PITX3 CL E G H5309610623Cataract 11610623C1864567OMIM1549006602669
HP:0001276HP:0031958Spastic paraparetic gait3PITX3 CL E G H5309610623Cataract 11610623C1864567OMIM1549006602669
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001276HP:0002313Spastic paraparesis3PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001276HP:0001258Spastic paraplegia3PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001276HP:0002478Progressive spastic quadriplegia3PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001276HP:0031957Spastic hemiparetic gait3PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001276HP:0031958Spastic paraparetic gait3PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3PLAA CL E G H9373617527NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES617527C4479631OMIM15059043603873
HP:0001276HP:0002313Spastic paraparesis3PLAA CL E G H9373617527NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES617527C4479631OMIM15059043603873
HP:0001276HP:0001258Spastic paraplegia3PLAA CL E G H9373617527NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES617527C4479631OMIM15059043603873
HP:0001276HP:0002478Progressive spastic quadriplegia3PLAA CL E G H9373617527NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES617527C4479631OMIM15059043603873
HP:0001276HP:0031957Spastic hemiparetic gait3PLAA CL E G H9373617527NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES617527C4479631OMIM15059043603873
HP:0001276HP:0031958Spastic paraparetic gait3PLAA CL E G H9373617527NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES617527C4479631OMIM15059043603873
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3PLK4 CL E G H107332518ORPHA156811397605031
HP:0001276HP:0002313Spastic paraparesis3PLK4 CL E G H107332518ORPHA156811397605031
HP:0001276HP:0001258Spastic paraplegia3PLK4 CL E G H107332518ORPHA156811397605031
HP:0001276HP:0002478Progressive spastic quadriplegia3PLK4 CL E G H107332518ORPHA156811397605031
HP:0001276HP:0031957Spastic hemiparetic gait3PLK4 CL E G H107332518ORPHA156811397605031
HP:0001276HP:0031958Spastic paraparetic gait3PLK4 CL E G H107332518ORPHA156811397605031
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3PLPBP CL E G H11212617290Epilepsy, early-onset, vitamin b6-dependent617290C4310632OMIM12429457604436
HP:0001276HP:0002313Spastic paraparesis3PLPBP CL E G H11212617290Epilepsy, early-onset, vitamin b6-dependent617290C4310632OMIM12429457604436
HP:0001276HP:0001258Spastic paraplegia3PLPBP CL E G H11212617290Epilepsy, early-onset, vitamin b6-dependent617290C4310632OMIM12429457604436
HP:0001276HP:0002478Progressive spastic quadriplegia3PLPBP CL E G H11212617290Epilepsy, early-onset, vitamin b6-dependent617290C4310632OMIM12429457604436
HP:0001276HP:0031957Spastic hemiparetic gait3PLPBP CL E G H11212617290Epilepsy, early-onset, vitamin b6-dependent617290C4310632OMIM12429457604436
HP:0001276HP:0031958Spastic paraparetic gait3PLPBP CL E G H11212617290Epilepsy, early-onset, vitamin b6-dependent617290C4310632OMIM12429457604436
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3PMS1 CL E G H5378144ORPHA11259121600258
HP:0001276HP:0002313Spastic paraparesis3PMS1 CL E G H5378144ORPHA11259121600258
HP:0001276HP:0001258Spastic paraplegia3PMS1 CL E G H5378144ORPHA11259121600258
HP:0001276HP:0002478Progressive spastic quadriplegia3PMS1 CL E G H5378144ORPHA11259121600258
HP:0001276HP:0031957Spastic hemiparetic gait3PMS1 CL E G H5378144ORPHA11259121600258
HP:0001276HP:0031958Spastic paraparetic gait3PMS1 CL E G H5378144ORPHA11259121600258
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3PMS2 CL E G H5395144ORPHA147199122600259
HP:0001276HP:0002313Spastic paraparesis3PMS2 CL E G H5395144ORPHA147199122600259
HP:0001276HP:0001258Spastic paraplegia3PMS2 CL E G H5395144ORPHA147199122600259
HP:0001276HP:0002478Progressive spastic quadriplegia3PMS2 CL E G H5395144ORPHA147199122600259
HP:0001276HP:0031957Spastic hemiparetic gait3PMS2 CL E G H5395144ORPHA147199122600259
HP:0001276HP:0031958Spastic paraparetic gait3PMS2 CL E G H5395144ORPHA147199122600259
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3PNPO CL E G H5516379096ORPHA131730260603287
HP:0001276HP:0002313Spastic paraparesis3PNPO CL E G H5516379096ORPHA131730260603287
HP:0001276HP:0001258Spastic paraplegia3PNPO CL E G H5516379096ORPHA131730260603287
HP:0001276HP:0002478Progressive spastic quadriplegia3PNPO CL E G H5516379096ORPHA131730260603287
HP:0001276HP:0031957Spastic hemiparetic gait3PNPO CL E G H5516379096ORPHA131730260603287
HP:0001276HP:0031958Spastic paraparetic gait3PNPO CL E G H5516379096ORPHA131730260603287
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3PNPO CL E G H55163610090Pyridoxal 5'-phosphate-dependent epilepsy610090C1864723OMIM131730260603287
HP:0001276HP:0002313Spastic paraparesis3PNPO CL E G H55163610090Pyridoxal 5'-phosphate-dependent epilepsy610090C1864723OMIM131730260603287
HP:0001276HP:0001258Spastic paraplegia3PNPO CL E G H55163610090Pyridoxal 5'-phosphate-dependent epilepsy610090C1864723OMIM131730260603287
HP:0001276HP:0002478Progressive spastic quadriplegia3PNPO CL E G H55163610090Pyridoxal 5'-phosphate-dependent epilepsy610090C1864723OMIM131730260603287
HP:0001276HP:0031957Spastic hemiparetic gait3PNPO CL E G H55163610090Pyridoxal 5'-phosphate-dependent epilepsy610090C1864723OMIM131730260603287
HP:0001276HP:0031958Spastic paraparetic gait3PNPO CL E G H55163610090Pyridoxal 5'-phosphate-dependent epilepsy610090C1864723OMIM131730260603287
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM123249179174763
HP:0001276HP:0002313Spastic paraparesis3POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM123249179174763
HP:0001276HP:0001258Spastic paraplegia3POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM123249179174763
HP:0001276HP:0002478Progressive spastic quadriplegia3POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM123249179174763
HP:0001276HP:0031957Spastic hemiparetic gait3POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM123249179174763
HP:0001276HP:0031958Spastic paraparetic gait3POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM123249179174763
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3POMGNT1 CL E G H55624588ORPHA1117419139606822
HP:0001276HP:0002313Spastic paraparesis3POMGNT1 CL E G H55624588ORPHA1117419139606822
HP:0001276HP:0001258Spastic paraplegia3POMGNT1 CL E G H55624588ORPHA1117419139606822
HP:0001276HP:0002478Progressive spastic quadriplegia3POMGNT1 CL E G H55624588ORPHA1117419139606822
HP:0001276HP:0031957Spastic hemiparetic gait3POMGNT1 CL E G H55624588ORPHA1117419139606822
HP:0001276HP:0031958Spastic paraparetic gait3POMGNT1 CL E G H55624588ORPHA1117419139606822
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3POMT1 CL E G H10585588ORPHA19069202607423
HP:0001276HP:0002313Spastic paraparesis3POMT1 CL E G H10585588ORPHA19069202607423
HP:0001276HP:0001258Spastic paraplegia3POMT1 CL E G H10585588ORPHA19069202607423
HP:0001276HP:0002478Progressive spastic quadriplegia3POMT1 CL E G H10585588ORPHA19069202607423
HP:0001276HP:0031957Spastic hemiparetic gait3POMT1 CL E G H10585588ORPHA19069202607423
HP:0001276HP:0031958Spastic paraparetic gait3POMT1 CL E G H10585588ORPHA19069202607423
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3POMT2 CL E G H29954588ORPHA193619743607439
HP:0001276HP:0002313Spastic paraparesis3POMT2 CL E G H29954588ORPHA193619743607439
HP:0001276HP:0001258Spastic paraplegia3POMT2 CL E G H29954588ORPHA193619743607439
HP:0001276HP:0002478Progressive spastic quadriplegia3POMT2 CL E G H29954588ORPHA193619743607439
HP:0001276HP:0031957Spastic hemiparetic gait3POMT2 CL E G H29954588ORPHA193619743607439
HP:0001276HP:0031958Spastic paraparetic gait3POMT2 CL E G H29954588ORPHA193619743607439
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3PRF1 CL E G H5551603553Hemophagocytic lymphohistiocytosis, familial, 2603553C1863727OMIM15059360170280
HP:0001276HP:0002313Spastic paraparesis3PRF1 CL E G H5551603553Hemophagocytic lymphohistiocytosis, familial, 2603553C1863727OMIM15059360170280
HP:0001276HP:0001258Spastic paraplegia3PRF1 CL E G H5551603553Hemophagocytic lymphohistiocytosis, familial, 2603553C1863727OMIM15059360170280
HP:0001276HP:0002478Progressive spastic quadriplegia3PRF1 CL E G H5551603553Hemophagocytic lymphohistiocytosis, familial, 2603553C1863727OMIM15059360170280
HP:0001276HP:0031957Spastic hemiparetic gait3PRF1 CL E G H5551603553Hemophagocytic lymphohistiocytosis, familial, 2603553C1863727OMIM15059360170280
HP:0001276HP:0031958Spastic paraparetic gait3PRF1 CL E G H5551603553Hemophagocytic lymphohistiocytosis, familial, 2603553C1863727OMIM15059360170280
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3PRRT2 CL E G H112476306ORPHA179930500614386
HP:0001276HP:0002313Spastic paraparesis3PRRT2 CL E G H112476306ORPHA179930500614386
HP:0001276HP:0001258Spastic paraplegia3PRRT2 CL E G H112476306ORPHA179930500614386
HP:0001276HP:0002478Progressive spastic quadriplegia3PRRT2 CL E G H112476306ORPHA179930500614386
HP:0001276HP:0031957Spastic hemiparetic gait3PRRT2 CL E G H112476306ORPHA179930500614386
HP:0001276HP:0031958Spastic paraparetic gait3PRRT2 CL E G H112476306ORPHA179930500614386
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3PSAP CL E G H5660611722Krabbe disease atypical due to Saposin A deficiency611722C2673266OMIM17729498176801
HP:0001276HP:0002313Spastic paraparesis3PSAP CL E G H5660611722Krabbe disease atypical due to Saposin A deficiency611722C2673266OMIM17729498176801
HP:0001276HP:0001258Spastic paraplegia3PSAP CL E G H5660611722Krabbe disease atypical due to Saposin A deficiency611722C2673266OMIM17729498176801
HP:0001276HP:0002478Progressive spastic quadriplegia3PSAP CL E G H5660611722Krabbe disease atypical due to Saposin A deficiency611722C2673266OMIM17729498176801
HP:0001276HP:0031957Spastic hemiparetic gait3PSAP CL E G H5660611722Krabbe disease atypical due to Saposin A deficiency611722C2673266OMIM17729498176801
HP:0001276HP:0031958Spastic paraparetic gait3PSAP CL E G H5660611722Krabbe disease atypical due to Saposin A deficiency611722C2673266OMIM17729498176801
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3PSAT1 CL E G H29968610992Phosphoserine aminotransferase deficiency610992C1970253OMIM149819129610936
HP:0001276HP:0002313Spastic paraparesis3PSAT1 CL E G H29968610992Phosphoserine aminotransferase deficiency610992C1970253OMIM149819129610936
HP:0001276HP:0001258Spastic paraplegia3PSAT1 CL E G H29968610992Phosphoserine aminotransferase deficiency610992C1970253OMIM149819129610936
HP:0001276HP:0002478Progressive spastic quadriplegia3PSAT1 CL E G H29968610992Phosphoserine aminotransferase deficiency610992C1970253OMIM149819129610936
HP:0001276HP:0031957Spastic hemiparetic gait3PSAT1 CL E G H29968610992Phosphoserine aminotransferase deficiency610992C1970253OMIM149819129610936
HP:0001276HP:0031958Spastic paraparetic gait3PSAT1 CL E G H29968610992Phosphoserine aminotransferase deficiency610992C1970253OMIM149819129610936
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3PSEN1 CL E G H56631020ORPHA15019508104311
HP:0001276HP:0002313Spastic paraparesis3PSEN1 CL E G H56631020ORPHA15019508104311
HP:0001276HP:0001258Spastic paraplegia3PSEN1 CL E G H56631020ORPHA15019508104311
HP:0001276HP:0002478Progressive spastic quadriplegia3PSEN1 CL E G H56631020ORPHA15019508104311
HP:0001276HP:0031957Spastic hemiparetic gait3PSEN1 CL E G H56631020ORPHA15019508104311
HP:0001276HP:0031958Spastic paraparetic gait3PSEN1 CL E G H56631020ORPHA15019508104311
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3PSEN2 CL E G H56641020ORPHA12799509600759
HP:0001276HP:0002313Spastic paraparesis3PSEN2 CL E G H56641020ORPHA12799509600759
HP:0001276HP:0001258Spastic paraplegia3PSEN2 CL E G H56641020ORPHA12799509600759
HP:0001276HP:0002478Progressive spastic quadriplegia3PSEN2 CL E G H56641020ORPHA12799509600759
HP:0001276HP:0031957Spastic hemiparetic gait3PSEN2 CL E G H56641020ORPHA12799509600759
HP:0001276HP:0031958Spastic paraparetic gait3PSEN2 CL E G H56641020ORPHA12799509600759
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3PSPH CL E G H5723614023Deficiency of phosphoserine phosphatase614023C1291463OMIM11899577172480
HP:0001276HP:0002313Spastic paraparesis3PSPH CL E G H5723614023Deficiency of phosphoserine phosphatase614023C1291463OMIM11899577172480
HP:0001276HP:0001258Spastic paraplegia3PSPH CL E G H5723614023Deficiency of phosphoserine phosphatase614023C1291463OMIM11899577172480
HP:0001276HP:0002478Progressive spastic quadriplegia3PSPH CL E G H5723614023Deficiency of phosphoserine phosphatase614023C1291463OMIM11899577172480
HP:0001276HP:0031957Spastic hemiparetic gait3PSPH CL E G H5723614023Deficiency of phosphoserine phosphatase614023C1291463OMIM11899577172480
HP:0001276HP:0031958Spastic paraparetic gait3PSPH CL E G H5723614023Deficiency of phosphoserine phosphatase614023C1291463OMIM11899577172480
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12639689612719
HP:0001276HP:0002313Spastic paraparesis3PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12639689612719
HP:0001276HP:0001258Spastic paraplegia3PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12639689612719
HP:0001276HP:0002478Progressive spastic quadriplegia3PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12639689612719
HP:0001276HP:0031957Spastic hemiparetic gait3PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12639689612719
HP:0001276HP:0031958Spastic paraparetic gait3PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12639689612719
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001276HP:0002313Spastic paraparesis3QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001276HP:0001258Spastic paraplegia3QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001276HP:0002478Progressive spastic quadriplegia3QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001276HP:0031957Spastic hemiparetic gait3QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001276HP:0031958Spastic paraparetic gait3QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA13529811606462
HP:0001276HP:0002313Spastic paraparesis3RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA13529811606462
HP:0001276HP:0001258Spastic paraplegia3RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA13529811606462
HP:0001276HP:0002478Progressive spastic quadriplegia3RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA13529811606462
HP:0001276HP:0031957Spastic hemiparetic gait3RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA13529811606462
HP:0001276HP:0031958Spastic paraparetic gait3RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA13529811606462
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3RTEL1 CL E G H517503322ORPHA1259715888608833
HP:0001276HP:0002313Spastic paraparesis3RTEL1 CL E G H517503322ORPHA1259715888608833
HP:0001276HP:0001258Spastic paraplegia3RTEL1 CL E G H517503322ORPHA1259715888608833
HP:0001276HP:0002478Progressive spastic quadriplegia3RTEL1 CL E G H517503322ORPHA1259715888608833
HP:0001276HP:0031957Spastic hemiparetic gait3RTEL1 CL E G H517503322ORPHA1259715888608833
HP:0001276HP:0031958Spastic paraparetic gait3RTEL1 CL E G H517503322ORPHA1259715888608833
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3SCN2A CL E G H6326306ORPHA1228010588182390
HP:0001276HP:0002313Spastic paraparesis3SCN2A CL E G H6326306ORPHA1228010588182390
HP:0001276HP:0001258Spastic paraplegia3SCN2A CL E G H6326306ORPHA1228010588182390
HP:0001276HP:0002478Progressive spastic quadriplegia3SCN2A CL E G H6326306ORPHA1228010588182390
HP:0001276HP:0031957Spastic hemiparetic gait3SCN2A CL E G H6326306ORPHA1228010588182390
HP:0001276HP:0031958Spastic paraparetic gait3SCN2A CL E G H6326306ORPHA1228010588182390
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3SCN4A CL E G H632999734ORPHA1176510591603967
HP:0001276HP:0002313Spastic paraparesis3SCN4A CL E G H632999734ORPHA1176510591603967
HP:0001276HP:0001258Spastic paraplegia3SCN4A CL E G H632999734ORPHA1176510591603967
HP:0001276HP:0002478Progressive spastic quadriplegia3SCN4A CL E G H632999734ORPHA1176510591603967
HP:0001276HP:0031957Spastic hemiparetic gait3SCN4A CL E G H632999734ORPHA1176510591603967
HP:0001276HP:0031958Spastic paraparetic gait3SCN4A CL E G H632999734ORPHA1176510591603967
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3SCN4A CL E G H632999735ORPHA1176510591603967
HP:0001276HP:0002313Spastic paraparesis3SCN4A CL E G H632999735ORPHA1176510591603967
HP:0001276HP:0001258Spastic paraplegia3SCN4A CL E G H632999735ORPHA1176510591603967
HP:0001276HP:0002478Progressive spastic quadriplegia3SCN4A CL E G H632999735ORPHA1176510591603967
HP:0001276HP:0031957Spastic hemiparetic gait3SCN4A CL E G H632999735ORPHA1176510591603967
HP:0001276HP:0031958Spastic paraparetic gait3SCN4A CL E G H632999735ORPHA1176510591603967
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3SCN4A CL E G H632999736ORPHA1176510591603967
HP:0001276HP:0002313Spastic paraparesis3SCN4A CL E G H632999736ORPHA1176510591603967
HP:0001276HP:0001258Spastic paraplegia3SCN4A CL E G H632999736ORPHA1176510591603967
HP:0001276HP:0002478Progressive spastic quadriplegia3SCN4A CL E G H632999736ORPHA1176510591603967
HP:0001276HP:0031957Spastic hemiparetic gait3SCN4A CL E G H632999736ORPHA1176510591603967
HP:0001276HP:0031958Spastic paraparetic gait3SCN4A CL E G H632999736ORPHA1176510591603967
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3SCN8A CL E G H6334306ORPHA1179910596600702
HP:0001276HP:0002313Spastic paraparesis3SCN8A CL E G H6334306ORPHA1179910596600702
HP:0001276HP:0001258Spastic paraplegia3SCN8A CL E G H6334306ORPHA1179910596600702
HP:0001276HP:0002478Progressive spastic quadriplegia3SCN8A CL E G H6334306ORPHA1179910596600702
HP:0001276HP:0031957Spastic hemiparetic gait3SCN8A CL E G H6334306ORPHA1179910596600702
HP:0001276HP:0031958Spastic paraparetic gait3SCN8A CL E G H6334306ORPHA1179910596600702
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA190925566615743
HP:0001276HP:0002313Spastic paraparesis3SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA190925566615743
HP:0001276HP:0001258Spastic paraplegia3SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA190925566615743
HP:0001276HP:0002478Progressive spastic quadriplegia3SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA190925566615743
HP:0001276HP:0031957Spastic hemiparetic gait3SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA190925566615743
HP:0001276HP:0031958Spastic paraparetic gait3SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA190925566615743
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0001276HP:0002313Spastic paraparesis3SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0001276HP:0001258Spastic paraplegia3SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0001276HP:0002478Progressive spastic quadriplegia3SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0001276HP:0031957Spastic hemiparetic gait3SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0001276HP:0031958Spastic paraparetic gait3SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3SLC6A19 CL E G H340024234500Neutral 1 amino acid transport defect234500C0018609OMIM152327960608893
HP:0001276HP:0002313Spastic paraparesis3SLC6A19 CL E G H340024234500Neutral 1 amino acid transport defect234500C0018609OMIM152327960608893
HP:0001276HP:0001258Spastic paraplegia3SLC6A19 CL E G H340024234500Neutral 1 amino acid transport defect234500C0018609OMIM152327960608893
HP:0001276HP:0002478Progressive spastic quadriplegia3SLC6A19 CL E G H340024234500Neutral 1 amino acid transport defect234500C0018609OMIM152327960608893
HP:0001276HP:0031957Spastic hemiparetic gait3SLC6A19 CL E G H340024234500Neutral 1 amino acid transport defect234500C0018609OMIM152327960608893
HP:0001276HP:0031958Spastic paraparetic gait3SLC6A19 CL E G H340024234500Neutral 1 amino acid transport defect234500C0018609OMIM152327960608893
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM158311049126455
HP:0001276HP:0002313Spastic paraparesis3SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM158311049126455
HP:0001276HP:0001258Spastic paraplegia3SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM158311049126455
HP:0001276HP:0002478Progressive spastic quadriplegia3SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM158311049126455
HP:0001276HP:0031957Spastic hemiparetic gait3SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM158311049126455
HP:0001276HP:0031958Spastic paraparetic gait3SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM158311049126455
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3SLC6A5 CL E G H9152614618Hyperekplexia 3614618C3553288OMIM171811051604159
HP:0001276HP:0002313Spastic paraparesis3SLC6A5 CL E G H9152614618Hyperekplexia 3614618C3553288OMIM171811051604159
HP:0001276HP:0001258Spastic paraplegia3SLC6A5 CL E G H9152614618Hyperekplexia 3614618C3553288OMIM171811051604159
HP:0001276HP:0002478Progressive spastic quadriplegia3SLC6A5 CL E G H9152614618Hyperekplexia 3614618C3553288OMIM171811051604159
HP:0001276HP:0031957Spastic hemiparetic gait3SLC6A5 CL E G H9152614618Hyperekplexia 3614618C3553288OMIM171811051604159
HP:0001276HP:0031958Spastic paraparetic gait3SLC6A5 CL E G H9152614618Hyperekplexia 3614618C3553288OMIM171811051604159
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3SLC6A8 CL E G H653552503ORPHA1106211055300036
HP:0001276HP:0002313Spastic paraparesis3SLC6A8 CL E G H653552503ORPHA1106211055300036
HP:0001276HP:0001258Spastic paraplegia3SLC6A8 CL E G H653552503ORPHA1106211055300036
HP:0001276HP:0002478Progressive spastic quadriplegia3SLC6A8 CL E G H653552503ORPHA1106211055300036
HP:0001276HP:0031957Spastic hemiparetic gait3SLC6A8 CL E G H653552503ORPHA1106211055300036
HP:0001276HP:0031958Spastic paraparetic gait3SLC6A8 CL E G H653552503ORPHA1106211055300036
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM126911056601019
HP:0001276HP:0002313Spastic paraparesis3SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM126911056601019
HP:0001276HP:0001258Spastic paraplegia3SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM126911056601019
HP:0001276HP:0002478Progressive spastic quadriplegia3SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM126911056601019
HP:0001276HP:0031957Spastic hemiparetic gait3SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM126911056601019
HP:0001276HP:0031958Spastic paraparetic gait3SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM126911056601019
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA193911111300040
HP:0001276HP:0002313Spastic paraparesis3SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA193911111300040
HP:0001276HP:0001258Spastic paraplegia3SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA193911111300040
HP:0001276HP:0002478Progressive spastic quadriplegia3SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA193911111300040
HP:0001276HP:0031957Spastic hemiparetic gait3SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA193911111300040
HP:0001276HP:0031958Spastic paraparetic gait3SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA193911111300040
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA14722468606062
HP:0001276HP:0002313Spastic paraparesis3SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA14722468606062
HP:0001276HP:0001258Spastic paraplegia3SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA14722468606062
HP:0001276HP:0002478Progressive spastic quadriplegia3SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA14722468606062
HP:0001276HP:0031957Spastic hemiparetic gait3SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA14722468606062
HP:0001276HP:0031958Spastic paraparetic gait3SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA14722468606062
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3SORL1 CL E G H66531020ORPHA153711185602005
HP:0001276HP:0002313Spastic paraparesis3SORL1 CL E G H66531020ORPHA153711185602005
HP:0001276HP:0001258Spastic paraplegia3SORL1 CL E G H66531020ORPHA153711185602005
HP:0001276HP:0002478Progressive spastic quadriplegia3SORL1 CL E G H66531020ORPHA153711185602005
HP:0001276HP:0031957Spastic hemiparetic gait3SORL1 CL E G H66531020ORPHA153711185602005
HP:0001276HP:0031958Spastic paraparetic gait3SORL1 CL E G H66531020ORPHA153711185602005
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3SOX10 CL E G H6663611584Waardenburg syndrome type 2E611584C2700405OMIM137811190602229
HP:0001276HP:0002313Spastic paraparesis3SOX10 CL E G H6663611584Waardenburg syndrome type 2E611584C2700405OMIM137811190602229
HP:0001276HP:0001258Spastic paraplegia3SOX10 CL E G H6663611584Waardenburg syndrome type 2E611584C2700405OMIM137811190602229
HP:0001276HP:0002478Progressive spastic quadriplegia3SOX10 CL E G H6663611584Waardenburg syndrome type 2E611584C2700405OMIM137811190602229
HP:0001276HP:0031957Spastic hemiparetic gait3SOX10 CL E G H6663611584Waardenburg syndrome type 2E611584C2700405OMIM137811190602229
HP:0001276HP:0031958Spastic paraparetic gait3SOX10 CL E G H6663611584Waardenburg syndrome type 2E611584C2700405OMIM137811190602229
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3SUOX CL E G H6821272300Sulfite oxidase deficiency272300C0268624OMIM135311460606887
HP:0001276HP:0002313Spastic paraparesis3SUOX CL E G H6821272300Sulfite oxidase deficiency272300C0268624OMIM135311460606887
HP:0001276HP:0001258Spastic paraplegia3SUOX CL E G H6821272300Sulfite oxidase deficiency272300C0268624OMIM135311460606887
HP:0001276HP:0002478Progressive spastic quadriplegia3SUOX CL E G H6821272300Sulfite oxidase deficiency272300C0268624OMIM135311460606887
HP:0001276HP:0031957Spastic hemiparetic gait3SUOX CL E G H6821272300Sulfite oxidase deficiency272300C0268624OMIM135311460606887
HP:0001276HP:0031958Spastic paraparetic gait3SUOX CL E G H6821272300Sulfite oxidase deficiency272300C0268624OMIM135311460606887
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3TERT CL E G H70153322ORPHA1281011730187270
HP:0001276HP:0002313Spastic paraparesis3TERT CL E G H70153322ORPHA1281011730187270
HP:0001276HP:0001258Spastic paraplegia3TERT CL E G H70153322ORPHA1281011730187270
HP:0001276HP:0002478Progressive spastic quadriplegia3TERT CL E G H70153322ORPHA1281011730187270
HP:0001276HP:0031957Spastic hemiparetic gait3TERT CL E G H70153322ORPHA1281011730187270
HP:0001276HP:0031958Spastic paraparetic gait3TERT CL E G H70153322ORPHA1281011730187270
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3TGFBR2 CL E G H7048144ORPHA194811773190182
HP:0001276HP:0002313Spastic paraparesis3TGFBR2 CL E G H7048144ORPHA194811773190182
HP:0001276HP:0001258Spastic paraplegia3TGFBR2 CL E G H7048144ORPHA194811773190182
HP:0001276HP:0002478Progressive spastic quadriplegia3TGFBR2 CL E G H7048144ORPHA194811773190182
HP:0001276HP:0031957Spastic hemiparetic gait3TGFBR2 CL E G H7048144ORPHA194811773190182
HP:0001276HP:0031958Spastic paraparetic gait3TGFBR2 CL E G H7048144ORPHA194811773190182
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3TINF2 CL E G H262773322ORPHA141111824604319
HP:0001276HP:0002313Spastic paraparesis3TINF2 CL E G H262773322ORPHA141111824604319
HP:0001276HP:0001258Spastic paraplegia3TINF2 CL E G H262773322ORPHA141111824604319
HP:0001276HP:0002478Progressive spastic quadriplegia3TINF2 CL E G H262773322ORPHA141111824604319
HP:0001276HP:0031957Spastic hemiparetic gait3TINF2 CL E G H262773322ORPHA141111824604319
HP:0001276HP:0031958Spastic paraparetic gait3TINF2 CL E G H262773322ORPHA141111824604319
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3TINF2 CL E G H26277268130Revesz syndrome268130C1327916OMIM141111824604319
HP:0001276HP:0002313Spastic paraparesis3TINF2 CL E G H26277268130Revesz syndrome268130C1327916OMIM141111824604319
HP:0001276HP:0001258Spastic paraplegia3TINF2 CL E G H26277268130Revesz syndrome268130C1327916OMIM141111824604319
HP:0001276HP:0002478Progressive spastic quadriplegia3TINF2 CL E G H26277268130Revesz syndrome268130C1327916OMIM141111824604319
HP:0001276HP:0031957Spastic hemiparetic gait3TINF2 CL E G H26277268130Revesz syndrome268130C1327916OMIM141111824604319
HP:0001276HP:0031958Spastic paraparetic gait3TINF2 CL E G H26277268130Revesz syndrome268130C1327916OMIM141111824604319
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0001276HP:0002313Spastic paraparesis3TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0001276HP:0001258Spastic paraplegia3TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0001276HP:0002478Progressive spastic quadriplegia3TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0001276HP:0031957Spastic hemiparetic gait3TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0001276HP:0031958Spastic paraparetic gait3TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3TOMM40 CL E G H104521020ORPHA12918001608061
HP:0001276HP:0002313Spastic paraparesis3TOMM40 CL E G H104521020ORPHA12918001608061
HP:0001276HP:0001258Spastic paraplegia3TOMM40 CL E G H104521020ORPHA12918001608061
HP:0001276HP:0002478Progressive spastic quadriplegia3TOMM40 CL E G H104521020ORPHA12918001608061
HP:0001276HP:0031957Spastic hemiparetic gait3TOMM40 CL E G H104521020ORPHA12918001608061
HP:0001276HP:0031958Spastic paraparetic gait3TOMM40 CL E G H104521020ORPHA12918001608061
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3TOR1A CL E G H1861128100Dystonia 1128100C1851945OMIM12203098605204
HP:0001276HP:0002313Spastic paraparesis3TOR1A CL E G H1861128100Dystonia 1128100C1851945OMIM12203098605204
HP:0001276HP:0001258Spastic paraplegia3TOR1A CL E G H1861128100Dystonia 1128100C1851945OMIM12203098605204
HP:0001276HP:0002478Progressive spastic quadriplegia3TOR1A CL E G H1861128100Dystonia 1128100C1851945OMIM12203098605204
HP:0001276HP:0031957Spastic hemiparetic gait3TOR1A CL E G H1861128100Dystonia 1128100C1851945OMIM12203098605204
HP:0001276HP:0031958Spastic paraparetic gait3TOR1A CL E G H1861128100Dystonia 1128100C1851945OMIM12203098605204
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3TOR1A CL E G H1861256Schrander-Stumpel Theunissen Hulsmans syndromeORPHA12203098605204
HP:0001276HP:0002313Spastic paraparesis3TOR1A CL E G H1861256Schrander-Stumpel Theunissen Hulsmans syndromeORPHA12203098605204
HP:0001276HP:0001258Spastic paraplegia3TOR1A CL E G H1861256Schrander-Stumpel Theunissen Hulsmans syndromeORPHA12203098605204
HP:0001276HP:0002478Progressive spastic quadriplegia3TOR1A CL E G H1861256Schrander-Stumpel Theunissen Hulsmans syndromeORPHA12203098605204
HP:0001276HP:0031957Spastic hemiparetic gait3TOR1A CL E G H1861256Schrander-Stumpel Theunissen Hulsmans syndromeORPHA12203098605204
HP:0001276HP:0031958Spastic paraparetic gait3TOR1A CL E G H1861256Schrander-Stumpel Theunissen Hulsmans syndromeORPHA12203098605204
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3TRAF7 CL E G H84231618164CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY618164OMIM115520456606692
HP:0001276HP:0002313Spastic paraparesis3TRAF7 CL E G H84231618164CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY618164OMIM115520456606692
HP:0001276HP:0001258Spastic paraplegia3TRAF7 CL E G H84231618164CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY618164OMIM115520456606692
HP:0001276HP:0002478Progressive spastic quadriplegia3TRAF7 CL E G H84231618164CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY618164OMIM115520456606692
HP:0001276HP:0031957Spastic hemiparetic gait3TRAF7 CL E G H84231618164CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY618164OMIM115520456606692
HP:0001276HP:0031958Spastic paraparetic gait3TRAF7 CL E G H84231618164CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY618164OMIM115520456606692
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3TREM2 CL E G H542091020ORPHA115417761605086
HP:0001276HP:0002313Spastic paraparesis3TREM2 CL E G H542091020ORPHA115417761605086
HP:0001276HP:0001258Spastic paraplegia3TREM2 CL E G H542091020ORPHA115417761605086
HP:0001276HP:0002478Progressive spastic quadriplegia3TREM2 CL E G H542091020ORPHA115417761605086
HP:0001276HP:0031957Spastic hemiparetic gait3TREM2 CL E G H542091020ORPHA115417761605086
HP:0001276HP:0031958Spastic paraparetic gait3TREM2 CL E G H542091020ORPHA115417761605086
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3TUBGCP4 CL E G H272292518ORPHA147516691609610
HP:0001276HP:0002313Spastic paraparesis3TUBGCP4 CL E G H272292518ORPHA147516691609610
HP:0001276HP:0001258Spastic paraplegia3TUBGCP4 CL E G H272292518ORPHA147516691609610
HP:0001276HP:0002478Progressive spastic quadriplegia3TUBGCP4 CL E G H272292518ORPHA147516691609610
HP:0001276HP:0031957Spastic hemiparetic gait3TUBGCP4 CL E G H272292518ORPHA147516691609610
HP:0001276HP:0031958Spastic paraparetic gait3TUBGCP4 CL E G H272292518ORPHA147516691609610
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3TUBGCP6 CL E G H853782518ORPHA1199818127610053
HP:0001276HP:0002313Spastic paraparesis3TUBGCP6 CL E G H853782518ORPHA1199818127610053
HP:0001276HP:0001258Spastic paraplegia3TUBGCP6 CL E G H853782518ORPHA1199818127610053
HP:0001276HP:0002478Progressive spastic quadriplegia3TUBGCP6 CL E G H853782518ORPHA1199818127610053
HP:0001276HP:0031957Spastic hemiparetic gait3TUBGCP6 CL E G H853782518ORPHA1199818127610053
HP:0001276HP:0031958Spastic paraparetic gait3TUBGCP6 CL E G H853782518ORPHA1199818127610053
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3VAC14 CL E G H55697617054Striatonigral degeneration, childhood-onset617054C4310743OMIM136725507604632
HP:0001276HP:0002313Spastic paraparesis3VAC14 CL E G H55697617054Striatonigral degeneration, childhood-onset617054C4310743OMIM136725507604632
HP:0001276HP:0001258Spastic paraplegia3VAC14 CL E G H55697617054Striatonigral degeneration, childhood-onset617054C4310743OMIM136725507604632
HP:0001276HP:0002478Progressive spastic quadriplegia3VAC14 CL E G H55697617054Striatonigral degeneration, childhood-onset617054C4310743OMIM136725507604632
HP:0001276HP:0031957Spastic hemiparetic gait3VAC14 CL E G H55697617054Striatonigral degeneration, childhood-onset617054C4310743OMIM136725507604632
HP:0001276HP:0031958Spastic paraparetic gait3VAC14 CL E G H55697617054Striatonigral degeneration, childhood-onset617054C4310743OMIM136725507604632
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3VPS37A CL E G H137492614898Spastic paraplegia 53, autosomal recessive614898C3539494OMIM125924928609927
HP:0001276HP:0002313Spastic paraparesis3VPS37A CL E G H137492614898Spastic paraplegia 53, autosomal recessive614898C3539494OMIM125924928609927
HP:0001276HP:0001258Spastic paraplegia3VPS37A CL E G H137492614898Spastic paraplegia 53, autosomal recessive614898C3539494OMIM125924928609927
HP:0001276HP:0002478Progressive spastic quadriplegia3VPS37A CL E G H137492614898Spastic paraplegia 53, autosomal recessive614898C3539494OMIM125924928609927
HP:0001276HP:0031957Spastic hemiparetic gait3VPS37A CL E G H137492614898Spastic paraplegia 53, autosomal recessive614898C3539494OMIM125924928609927
HP:0001276HP:0031958Spastic paraparetic gait3VPS37A CL E G H137492614898Spastic paraplegia 53, autosomal recessive614898C3539494OMIM125924928609927
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3ZSWIM6 CL E G H57688617865NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES617865CN800196OMIM165929316615951
HP:0001276HP:0002313Spastic paraparesis3ZSWIM6 CL E G H57688617865NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES617865CN800196OMIM165929316615951
HP:0001276HP:0001258Spastic paraplegia3ZSWIM6 CL E G H57688617865NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES617865CN800196OMIM165929316615951
HP:0001276HP:0002478Progressive spastic quadriplegia3ZSWIM6 CL E G H57688617865NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES617865CN800196OMIM165929316615951
HP:0001276HP:0031957Spastic hemiparetic gait3ZSWIM6 CL E G H57688617865NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES617865CN800196OMIM165929316615951
HP:0001276HP:0031958Spastic paraparetic gait3ZSWIM6 CL E G H57688617865NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES617865CN800196OMIM165929316615951
HP:0001276HP:0007199Progressive spastic paraparesis4ABCA7 CL E G H103471020ORPHA126937605414
HP:0001276HP:0007020Progressive spastic paraplegia4ABCA7 CL E G H103471020ORPHA126937605414
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4ABCA7 CL E G H103471020ORPHA126937605414
HP:0001276HP:0012407Scissor gait4ABCA7 CL E G H103471020ORPHA126937605414
HP:0001276HP:0007199Progressive spastic paraparesis4ACD CL E G H650573322ORPHA1104925070609377
HP:0001276HP:0007020Progressive spastic paraplegia4ACD CL E G H650573322ORPHA1104925070609377
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4ACD CL E G H650573322ORPHA1104925070609377
HP:0001276HP:0012407Scissor gait4ACD CL E G H650573322ORPHA1104925070609377
HP:0001276HP:0007199Progressive spastic paraparesis4ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1665119609751
HP:0001276HP:0007020Progressive spastic paraplegia4ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1665119609751
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1665119609751
HP:0001276HP:0012407Scissor gait4ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1665119609751
HP:0001276HP:0007199Progressive spastic paraparesis4AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1480315604581
HP:0001276HP:0007020Progressive spastic paraplegia4AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1480315604581
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1480315604581
HP:0001276HP:0012407Scissor gait4AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1480315604581
HP:0001276HP:0007199Progressive spastic paraparesis4ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM121923056608750
HP:0001276HP:0007020Progressive spastic paraplegia4ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM121923056608750
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM121923056608750
HP:0001276HP:0012407Scissor gait4ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM121923056608750
HP:0001276HP:0007199Progressive spastic paraparesis4APP CL E G H3511020ORPHA1506620104760
HP:0001276HP:0007020Progressive spastic paraplegia4APP CL E G H3511020ORPHA1506620104760
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4APP CL E G H3511020ORPHA1506620104760
HP:0001276HP:0012407Scissor gait4APP CL E G H3511020ORPHA1506620104760
HP:0001276HP:0007199Progressive spastic paraparesis4ARHGEF9 CL E G H23229300607Early infantile epileptic encephalopathy 8300607C1845102OMIM150914561300429
HP:0001276HP:0007020Progressive spastic paraplegia4ARHGEF9 CL E G H23229300607Early infantile epileptic encephalopathy 8300607C1845102OMIM150914561300429
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4ARHGEF9 CL E G H23229300607Early infantile epileptic encephalopathy 8300607C1845102OMIM150914561300429
HP:0001276HP:0012407Scissor gait4ARHGEF9 CL E G H23229300607Early infantile epileptic encephalopathy 8300607C1845102OMIM150914561300429
HP:0001276HP:0007199Progressive spastic paraparesis4ARV1 CL E G H64801617020Epileptic encephalopathy, early infantile, 38617020C4310762OMIM18929561611647
HP:0001276HP:0007020Progressive spastic paraplegia4ARV1 CL E G H64801617020Epileptic encephalopathy, early infantile, 38617020C4310762OMIM18929561611647
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4ARV1 CL E G H64801617020Epileptic encephalopathy, early infantile, 38617020C4310762OMIM18929561611647
HP:0001276HP:0012407Scissor gait4ARV1 CL E G H64801617020Epileptic encephalopathy, early infantile, 38617020C4310762OMIM18929561611647
HP:0001276HP:0007199Progressive spastic paraparesis4ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001276HP:0007020Progressive spastic paraplegia4ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001276HP:0012407Scissor gait4ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001276HP:0007199Progressive spastic paraparesis4ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM118325903614452
HP:0001276HP:0007020Progressive spastic paraplegia4ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM118325903614452
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM118325903614452
HP:0001276HP:0012407Scissor gait4ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM118325903614452
HP:0001276HP:0007199Progressive spastic paraparesis4ATP7A CL E G H538309400Menkes kinky-hair syndrome309400C0022716OMIM11751869300011
HP:0001276HP:0007020Progressive spastic paraplegia4ATP7A CL E G H538309400Menkes kinky-hair syndrome309400C0022716OMIM11751869300011
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4ATP7A CL E G H538309400Menkes kinky-hair syndrome309400C0022716OMIM11751869300011
HP:0001276HP:0012407Scissor gait4ATP7A CL E G H538309400Menkes kinky-hair syndrome309400C0022716OMIM11751869300011
HP:0001276HP:0007199Progressive spastic paraparesis4B3GALNT2 CL E G H148789588ORPHA158728596610194
HP:0001276HP:0007020Progressive spastic paraplegia4B3GALNT2 CL E G H148789588ORPHA158728596610194
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4B3GALNT2 CL E G H148789588ORPHA158728596610194
HP:0001276HP:0012407Scissor gait4B3GALNT2 CL E G H148789588ORPHA158728596610194
HP:0001276HP:0007199Progressive spastic paraparesis4BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1596986608348
HP:0001276HP:0007020Progressive spastic paraplegia4BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1596986608348
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1596986608348
HP:0001276HP:0012407Scissor gait4BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1596986608348
HP:0001276HP:0007199Progressive spastic paraparesis4BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1647987248611
HP:0001276HP:0007020Progressive spastic paraplegia4BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1647987248611
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1647987248611
HP:0001276HP:0012407Scissor gait4BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1647987248611
HP:0001276HP:0007199Progressive spastic paraparesis4BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM111821097164757
HP:0001276HP:0007020Progressive spastic paraplegia4BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM111821097164757
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM111821097164757
HP:0001276HP:0012407Scissor gait4BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM111821097164757
HP:0001276HP:0007199Progressive spastic paraparesis4BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM1114721701614506
HP:0001276HP:0007020Progressive spastic paraplegia4BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM1114721701614506
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM1114721701614506
HP:0001276HP:0012407Scissor gait4BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM1114721701614506
HP:0001276HP:0007199Progressive spastic paraparesis4BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM1114721701614506
HP:0001276HP:0007020Progressive spastic paraplegia4BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM1114721701614506
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM1114721701614506
HP:0001276HP:0012407Scissor gait4BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM1114721701614506
HP:0001276HP:0007199Progressive spastic paraparesis4CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM132481388601011
HP:0001276HP:0007020Progressive spastic paraplegia4CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM132481388601011
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM132481388601011
HP:0001276HP:0012407Scissor gait4CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM132481388601011
HP:0001276HP:0007199Progressive spastic paraparesis4CLCF1 CL E G H235291545Corsello Opitz syndromeORPHA13817412607672
HP:0001276HP:0007020Progressive spastic paraplegia4CLCF1 CL E G H235291545Corsello Opitz syndromeORPHA13817412607672
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4CLCF1 CL E G H235291545Corsello Opitz syndromeORPHA13817412607672
HP:0001276HP:0012407Scissor gait4CLCF1 CL E G H235291545Corsello Opitz syndromeORPHA13817412607672
HP:0001276HP:0007199Progressive spastic paraparesis4COG4 CL E G H25839613489Congenital disorder of glycosylation type 2J613489C3150736OMIM133918620606976
HP:0001276HP:0007020Progressive spastic paraplegia4COG4 CL E G H25839613489Congenital disorder of glycosylation type 2J613489C3150736OMIM133918620606976
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4COG4 CL E G H25839613489Congenital disorder of glycosylation type 2J613489C3150736OMIM133918620606976
HP:0001276HP:0012407Scissor gait4COG4 CL E G H25839613489Congenital disorder of glycosylation type 2J613489C3150736OMIM133918620606976
HP:0001276HP:0007199Progressive spastic paraparesis4COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001276HP:0007020Progressive spastic paraplegia4COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001276HP:0012407Scissor gait4COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001276HP:0007199Progressive spastic paraparesis4CP CL E G H135648818ORPHA18312295117700
HP:0001276HP:0007020Progressive spastic paraplegia4CP CL E G H135648818ORPHA18312295117700
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4CP CL E G H135648818ORPHA18312295117700
HP:0001276HP:0012407Scissor gait4CP CL E G H135648818ORPHA18312295117700
HP:0001276HP:0007199Progressive spastic paraparesis4CRLF1 CL E G H92441545Corsello Opitz syndromeORPHA11482364604237
HP:0001276HP:0007020Progressive spastic paraplegia4CRLF1 CL E G H92441545Corsello Opitz syndromeORPHA11482364604237
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4CRLF1 CL E G H92441545Corsello Opitz syndromeORPHA11482364604237
HP:0001276HP:0012407Scissor gait4CRLF1 CL E G H92441545Corsello Opitz syndromeORPHA11482364604237
HP:0001276HP:0007199Progressive spastic paraparesis4CYB5R3 CL E G H1727250800Deficiency of cytochrome-b5 reductase250800C0268193OMIM12152873613213
HP:0001276HP:0007020Progressive spastic paraplegia4CYB5R3 CL E G H1727250800Deficiency of cytochrome-b5 reductase250800C0268193OMIM12152873613213
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4CYB5R3 CL E G H1727250800Deficiency of cytochrome-b5 reductase250800C0268193OMIM12152873613213
HP:0001276HP:0012407Scissor gait4CYB5R3 CL E G H1727250800Deficiency of cytochrome-b5 reductase250800C0268193OMIM12152873613213
HP:0001276HP:0007199Progressive spastic paraparesis4DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM16832698248610
HP:0001276HP:0007020Progressive spastic paraplegia4DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM16832698248610
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM16832698248610
HP:0001276HP:0012407Scissor gait4DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM16832698248610
HP:0001276HP:0007199Progressive spastic paraparesis4DCX CL E G H16412148ORPHA14232714300121
HP:0001276HP:0007020Progressive spastic paraplegia4DCX CL E G H16412148ORPHA14232714300121
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4DCX CL E G H16412148ORPHA14232714300121
HP:0001276HP:0012407Scissor gait4DCX CL E G H16412148ORPHA14232714300121
HP:0001276HP:0007199Progressive spastic paraparesis4DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM17792860602858
HP:0001276HP:0007020Progressive spastic paraplegia4DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM17792860602858
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM17792860602858
HP:0001276HP:0012407Scissor gait4DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM17792860602858
HP:0001276HP:0007199Progressive spastic paraparesis4DKC1 CL E G H17363322ORPHA15342890300126
HP:0001276HP:0007020Progressive spastic paraplegia4DKC1 CL E G H17363322ORPHA15342890300126
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4DKC1 CL E G H17363322ORPHA15342890300126
HP:0001276HP:0012407Scissor gait4DKC1 CL E G H17363322ORPHA15342890300126
HP:0001276HP:0007199Progressive spastic paraparesis4DMPK CL E G H1760273ORPHA12732933605377
HP:0001276HP:0007020Progressive spastic paraplegia4DMPK CL E G H1760273ORPHA12732933605377
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4DMPK CL E G H1760273ORPHA12732933605377
HP:0001276HP:0012407Scissor gait4DMPK CL E G H1760273ORPHA12732933605377
HP:0001276HP:0007199Progressive spastic paraparesis4DNAJC12 CL E G H56521617384Hyperphenylalaninemia, mild, non-bh4-deficient617384C4479270OMIM111528908606060
HP:0001276HP:0007020Progressive spastic paraplegia4DNAJC12 CL E G H56521617384Hyperphenylalaninemia, mild, non-bh4-deficient617384C4479270OMIM111528908606060
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4DNAJC12 CL E G H56521617384Hyperphenylalaninemia, mild, non-bh4-deficient617384C4479270OMIM111528908606060
HP:0001276HP:0012407Scissor gait4DNAJC12 CL E G H56521617384Hyperphenylalaninemia, mild, non-bh4-deficient617384C4479270OMIM111528908606060
HP:0001276HP:0007199Progressive spastic paraparesis4DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM13122995191350
HP:0001276HP:0007020Progressive spastic paraplegia4DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM13122995191350
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM13122995191350
HP:0001276HP:0012407Scissor gait4DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM13122995191350
HP:0001276HP:0007199Progressive spastic paraparesis4DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM14463012612779
HP:0001276HP:0007020Progressive spastic paraplegia4DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM14463012612779
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM14463012612779
HP:0001276HP:0012407Scissor gait4DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM14463012612779
HP:0001276HP:0007199Progressive spastic paraparesis4EBP CL E G H10682300960MEND syndrome300960C4085243OMIM13173133300205
HP:0001276HP:0007020Progressive spastic paraplegia4EBP CL E G H10682300960MEND syndrome300960C4085243OMIM13173133300205
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4EBP CL E G H10682300960MEND syndrome300960C4085243OMIM13173133300205
HP:0001276HP:0012407Scissor gait4EBP CL E G H10682300960MEND syndrome300960C4085243OMIM13173133300205
HP:0001276HP:0007199Progressive spastic paraparesis4EIF2AK3 CL E G H9451226980Wolcott-Rallison dysplasia226980C0432217OMIM15203255604032
HP:0001276HP:0007020Progressive spastic paraplegia4EIF2AK3 CL E G H9451226980Wolcott-Rallison dysplasia226980C0432217OMIM15203255604032
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4EIF2AK3 CL E G H9451226980Wolcott-Rallison dysplasia226980C0432217OMIM15203255604032
HP:0001276HP:0012407Scissor gait4EIF2AK3 CL E G H9451226980Wolcott-Rallison dysplasia226980C0432217OMIM15203255604032
HP:0001276HP:0007199Progressive spastic paraparesis4EIF2S3 CL E G H196885282ORPHA12083267300161
HP:0001276HP:0007020Progressive spastic paraplegia4EIF2S3 CL E G H196885282ORPHA12083267300161
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4EIF2S3 CL E G H196885282ORPHA12083267300161
HP:0001276HP:0012407Scissor gait4EIF2S3 CL E G H196885282ORPHA12083267300161
HP:0001276HP:0007199Progressive spastic paraparesis4EPCAM CL E G H4072144ORPHA174411529185535
HP:0001276HP:0007020Progressive spastic paraplegia4EPCAM CL E G H4072144ORPHA174411529185535
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4EPCAM CL E G H4072144ORPHA174411529185535
HP:0001276HP:0012407Scissor gait4EPCAM CL E G H4072144ORPHA174411529185535
HP:0001276HP:0007199Progressive spastic paraparesis4ERCC1 CL E G H20671466ORPHA11613433126380
HP:0001276HP:0007020Progressive spastic paraplegia4ERCC1 CL E G H20671466ORPHA11613433126380
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4ERCC1 CL E G H20671466ORPHA11613433126380
HP:0001276HP:0012407Scissor gait4ERCC1 CL E G H20671466ORPHA11613433126380
HP:0001276HP:0007199Progressive spastic paraparesis4ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11613433126380
HP:0001276HP:0007020Progressive spastic paraplegia4ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11613433126380
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11613433126380
HP:0001276HP:0012407Scissor gait4ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11613433126380
HP:0001276HP:0007199Progressive spastic paraparesis4ERCC2 CL E G H20681466ORPHA115723434126340
HP:0001276HP:0007020Progressive spastic paraplegia4ERCC2 CL E G H20681466ORPHA115723434126340
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4ERCC2 CL E G H20681466ORPHA115723434126340
HP:0001276HP:0012407Scissor gait4ERCC2 CL E G H20681466ORPHA115723434126340
HP:0001276HP:0007199Progressive spastic paraparesis4ERCC5 CL E G H20731466ORPHA14913437133530
HP:0001276HP:0007020Progressive spastic paraplegia4ERCC5 CL E G H20731466ORPHA14913437133530
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4ERCC5 CL E G H20731466ORPHA14913437133530
HP:0001276HP:0012407Scissor gait4ERCC5 CL E G H20731466ORPHA14913437133530
HP:0001276HP:0007199Progressive spastic paraparesis4ERCC6 CL E G H20741466ORPHA116453438609413
HP:0001276HP:0007020Progressive spastic paraplegia4ERCC6 CL E G H20741466ORPHA116453438609413
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4ERCC6 CL E G H20741466ORPHA116453438609413
HP:0001276HP:0012407Scissor gait4ERCC6 CL E G H20741466ORPHA116453438609413
HP:0001276HP:0007199Progressive spastic paraparesis4EYA1 CL E G H21382792Hyperbilirubinemia type 1ORPHA15133519601653
HP:0001276HP:0007020Progressive spastic paraplegia4EYA1 CL E G H21382792Hyperbilirubinemia type 1ORPHA15133519601653
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4EYA1 CL E G H21382792Hyperbilirubinemia type 1ORPHA15133519601653
HP:0001276HP:0012407Scissor gait4EYA1 CL E G H21382792Hyperbilirubinemia type 1ORPHA15133519601653
HP:0001276HP:0007199Progressive spastic paraparesis4EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0001276HP:0007020Progressive spastic paraplegia4EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0001276HP:0012407Scissor gait4EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0001276HP:0007199Progressive spastic paraparesis4FAN1 CL E G H22909144ORPHA148229170613534
HP:0001276HP:0007020Progressive spastic paraplegia4FAN1 CL E G H22909144ORPHA148229170613534
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4FAN1 CL E G H22909144ORPHA148229170613534
HP:0001276HP:0012407Scissor gait4FAN1 CL E G H22909144ORPHA148229170613534
HP:0001276HP:0007199Progressive spastic paraparesis4FKRP CL E G H79147588ORPHA195017997606596
HP:0001276HP:0007020Progressive spastic paraplegia4FKRP CL E G H79147588ORPHA195017997606596
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4FKRP CL E G H79147588ORPHA195017997606596
HP:0001276HP:0012407Scissor gait4FKRP CL E G H79147588ORPHA195017997606596
HP:0001276HP:0007199Progressive spastic paraparesis4FKTN CL E G H2218588ORPHA19143622607440
HP:0001276HP:0007020Progressive spastic paraplegia4FKTN CL E G H2218588ORPHA19143622607440
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4FKTN CL E G H2218588ORPHA19143622607440
HP:0001276HP:0012407Scissor gait4FKTN CL E G H2218588ORPHA19143622607440
HP:0001276HP:0007199Progressive spastic paraparesis4FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM124324678610966
HP:0001276HP:0007020Progressive spastic paraplegia4FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM124324678610966
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM124324678610966
HP:0001276HP:0012407Scissor gait4FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM124324678610966
HP:0001276HP:0007199Progressive spastic paraparesis4GALC CL E G H2581245200Galactosylceramide beta-galactosidase deficiency245200C0023521OMIM111854115606890
HP:0001276HP:0007020Progressive spastic paraplegia4GALC CL E G H2581245200Galactosylceramide beta-galactosidase deficiency245200C0023521OMIM111854115606890
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4GALC CL E G H2581245200Galactosylceramide beta-galactosidase deficiency245200C0023521OMIM111854115606890
HP:0001276HP:0012407Scissor gait4GALC CL E G H2581245200Galactosylceramide beta-galactosidase deficiency245200C0023521OMIM111854115606890
HP:0001276HP:0007199Progressive spastic paraparesis4GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM15884136601240
HP:0001276HP:0007020Progressive spastic paraplegia4GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM15884136601240
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM15884136601240
HP:0001276HP:0012407Scissor gait4GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM15884136601240
HP:0001276HP:0007199Progressive spastic paraparesis4GBA CL E G H26292072ORPHA14177606463
HP:0001276HP:0007020Progressive spastic paraplegia4GBA CL E G H26292072ORPHA14177606463
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4GBA CL E G H26292072ORPHA14177606463
HP:0001276HP:0012407Scissor gait4GBA CL E G H26292072ORPHA14177606463
HP:0001276HP:0007199Progressive spastic paraparesis4GBA CL E G H262985212ORPHA14177606463
HP:0001276HP:0007020Progressive spastic paraplegia4GBA CL E G H262985212ORPHA14177606463
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4GBA CL E G H262985212ORPHA14177606463
HP:0001276HP:0012407Scissor gait4GBA CL E G H262985212ORPHA14177606463
HP:0001276HP:0007199Progressive spastic paraparesis4GLRA1 CL E G H2741149400Hyperekplexia hereditary149400C1835614OMIM14474326138491
HP:0001276HP:0007020Progressive spastic paraplegia4GLRA1 CL E G H2741149400Hyperekplexia hereditary149400C1835614OMIM14474326138491
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4GLRA1 CL E G H2741149400Hyperekplexia hereditary149400C1835614OMIM14474326138491
HP:0001276HP:0012407Scissor gait4GLRA1 CL E G H2741149400Hyperekplexia hereditary149400C1835614OMIM14474326138491
HP:0001276HP:0007199Progressive spastic paraparesis4GLRB CL E G H2743614619Hyperekplexia 2614619C3553291OMIM13794329138492
HP:0001276HP:0007020Progressive spastic paraplegia4GLRB CL E G H2743614619Hyperekplexia 2614619C3553291OMIM13794329138492
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4GLRB CL E G H2743614619Hyperekplexia 2614619C3553291OMIM13794329138492
HP:0001276HP:0012407Scissor gait4GLRB CL E G H2743614619Hyperekplexia 2614619C3553291OMIM13794329138492
HP:0001276HP:0007199Progressive spastic paraparesis4GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001276HP:0007020Progressive spastic paraplegia4GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001276HP:0012407Scissor gait4GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001276HP:0007199Progressive spastic paraparesis4GMPPB CL E G H29925588ORPHA136422932615320
HP:0001276HP:0007020Progressive spastic paraplegia4GMPPB CL E G H29925588ORPHA136422932615320
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4GMPPB CL E G H29925588ORPHA136422932615320
HP:0001276HP:0012407Scissor gait4GMPPB CL E G H29925588ORPHA136422932615320
HP:0001276HP:0007199Progressive spastic paraparesis4GMPPB CL E G H29925615351Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14615351C3809221OMIM136422932615320
HP:0001276HP:0007020Progressive spastic paraplegia4GMPPB CL E G H29925615351Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14615351C3809221OMIM136422932615320
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4GMPPB CL E G H29925615351Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14615351C3809221OMIM136422932615320
HP:0001276HP:0012407Scissor gait4GMPPB CL E G H29925615351Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14615351C3809221OMIM136422932615320
HP:0001276HP:0007199Progressive spastic paraparesis4GPHN CL E G H10243149400Hyperekplexia hereditary149400C1835614OMIM1147315465603930
HP:0001276HP:0007020Progressive spastic paraplegia4GPHN CL E G H10243149400Hyperekplexia hereditary149400C1835614OMIM1147315465603930
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4GPHN CL E G H10243149400Hyperekplexia hereditary149400C1835614OMIM1147315465603930
HP:0001276HP:0012407Scissor gait4GPHN CL E G H10243149400Hyperekplexia hereditary149400C1835614OMIM1147315465603930
HP:0001276HP:0007199Progressive spastic paraparesis4GRIN2D CL E G H2906617162Epileptic encephalopathy, early infantile, 46617162C4310687OMIM18234588602717
HP:0001276HP:0007020Progressive spastic paraplegia4GRIN2D CL E G H2906617162Epileptic encephalopathy, early infantile, 46617162C4310687OMIM18234588602717
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4GRIN2D CL E G H2906617162Epileptic encephalopathy, early infantile, 46617162C4310687OMIM18234588602717
HP:0001276HP:0012407Scissor gait4GRIN2D CL E G H2906617162Epileptic encephalopathy, early infantile, 46617162C4310687OMIM18234588602717
HP:0001276HP:0007199Progressive spastic paraparesis4HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA138113315300269
HP:0001276HP:0007020Progressive spastic paraplegia4HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA138113315300269
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA138113315300269
HP:0001276HP:0012407Scissor gait4HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA138113315300269
HP:0001276HP:0007199Progressive spastic paraparesis4HEXA CL E G H3073272800Tay-Sachs disease272800C0039373OMIM110024878606869
HP:0001276HP:0007020Progressive spastic paraplegia4HEXA CL E G H3073272800Tay-Sachs disease272800C0039373OMIM110024878606869
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4HEXA CL E G H3073272800Tay-Sachs disease272800C0039373OMIM110024878606869
HP:0001276HP:0012407Scissor gait4HEXA CL E G H3073272800Tay-Sachs disease272800C0039373OMIM110024878606869
HP:0001276HP:0007199Progressive spastic paraparesis4HIST1H1E CL E G H3008617537RAHMAN SYNDROME617537C4479637OMIM14718142220
HP:0001276HP:0007020Progressive spastic paraplegia4HIST1H1E CL E G H3008617537RAHMAN SYNDROME617537C4479637OMIM14718142220
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4HIST1H1E CL E G H3008617537RAHMAN SYNDROME617537C4479637OMIM14718142220
HP:0001276HP:0012407Scissor gait4HIST1H1E CL E G H3008617537RAHMAN SYNDROME617537C4479637OMIM14718142220
HP:0001276HP:0007199Progressive spastic paraparesis4HLCS CL E G H3141253270Holocarboxylase synthetase deficiency253270C0268581OMIM18854976609018
HP:0001276HP:0007020Progressive spastic paraplegia4HLCS CL E G H3141253270Holocarboxylase synthetase deficiency253270C0268581OMIM18854976609018
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4HLCS CL E G H3141253270Holocarboxylase synthetase deficiency253270C0268581OMIM18854976609018
HP:0001276HP:0012407Scissor gait4HLCS CL E G H3141253270Holocarboxylase synthetase deficiency253270C0268581OMIM18854976609018
HP:0001276HP:0007199Progressive spastic paraparesis4HNRNPH2 CL E G H3188300986Mental retardation, X-linked, syndromic, Bain type300986C4310814OMIM11965042300610
HP:0001276HP:0007020Progressive spastic paraplegia4HNRNPH2 CL E G H3188300986Mental retardation, X-linked, syndromic, Bain type300986C4310814OMIM11965042300610
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4HNRNPH2 CL E G H3188300986Mental retardation, X-linked, syndromic, Bain type300986C4310814OMIM11965042300610
HP:0001276HP:0012407Scissor gait4HNRNPH2 CL E G H3188300986Mental retardation, X-linked, syndromic, Bain type300986C4310814OMIM11965042300610
HP:0001276HP:0007199Progressive spastic paraparesis4HSPG2 CL E G H3339800ORPHA124975273142461
HP:0001276HP:0007020Progressive spastic paraplegia4HSPG2 CL E G H3339800ORPHA124975273142461
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4HSPG2 CL E G H3339800ORPHA124975273142461
HP:0001276HP:0012407Scissor gait4HSPG2 CL E G H3339800ORPHA124975273142461
HP:0001276HP:0007199Progressive spastic paraparesis4HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM124414348606441
HP:0001276HP:0007020Progressive spastic paraplegia4HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM124414348606441
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM124414348606441
HP:0001276HP:0012407Scissor gait4HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM124414348606441
HP:0001276HP:0007199Progressive spastic paraparesis4ITM2B CL E G H9445176500Dementia familial British176500C1867773OMIM11776174603904
HP:0001276HP:0007020Progressive spastic paraplegia4ITM2B CL E G H9445176500Dementia familial British176500C1867773OMIM11776174603904
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4ITM2B CL E G H9445176500Dementia familial British176500C1867773OMIM11776174603904
HP:0001276HP:0012407Scissor gait4ITM2B CL E G H9445176500Dementia familial British176500C1867773OMIM11776174603904
HP:0001276HP:0007199Progressive spastic paraparesis4KCNQ2 CL E G H3785306ORPHA119626296602235
HP:0001276HP:0007020Progressive spastic paraplegia4KCNQ2 CL E G H3785306ORPHA119626296602235
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4KCNQ2 CL E G H3785306ORPHA119626296602235
HP:0001276HP:0012407Scissor gait4KCNQ2 CL E G H3785306ORPHA119626296602235
HP:0001276HP:0007199Progressive spastic paraparesis4KCNQ2 CL E G H37851949Benign familial neonatal seizuresCN200689ORPHA119626296602235
HP:0001276HP:0007020Progressive spastic paraplegia4KCNQ2 CL E G H37851949Benign familial neonatal seizuresCN200689ORPHA119626296602235
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4KCNQ2 CL E G H37851949Benign familial neonatal seizuresCN200689ORPHA119626296602235
HP:0001276HP:0012407Scissor gait4KCNQ2 CL E G H37851949Benign familial neonatal seizuresCN200689ORPHA119626296602235
HP:0001276HP:0007199Progressive spastic paraparesis4KCNQ3 CL E G H3786306ORPHA112276297602232
HP:0001276HP:0007020Progressive spastic paraplegia4KCNQ3 CL E G H3786306ORPHA112276297602232
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4KCNQ3 CL E G H3786306ORPHA112276297602232
HP:0001276HP:0012407Scissor gait4KCNQ3 CL E G H3786306ORPHA112276297602232
HP:0001276HP:0007199Progressive spastic paraparesis4KCNQ3 CL E G H37861949Benign familial neonatal seizuresCN200689ORPHA112276297602232
HP:0001276HP:0007020Progressive spastic paraplegia4KCNQ3 CL E G H37861949Benign familial neonatal seizuresCN200689ORPHA112276297602232
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4KCNQ3 CL E G H37861949Benign familial neonatal seizuresCN200689ORPHA112276297602232
HP:0001276HP:0012407Scissor gait4KCNQ3 CL E G H37861949Benign familial neonatal seizuresCN200689ORPHA112276297602232
HP:0001276HP:0007199Progressive spastic paraparesis4KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA120737132159555
HP:0001276HP:0007020Progressive spastic paraplegia4KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA120737132159555
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA120737132159555
HP:0001276HP:0012407Scissor gait4KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA120737132159555
HP:0001276HP:0007199Progressive spastic paraparesis4KRAS CL E G H3845144ORPHA14806407190070
HP:0001276HP:0007020Progressive spastic paraplegia4KRAS CL E G H3845144ORPHA14806407190070
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4KRAS CL E G H3845144ORPHA14806407190070
HP:0001276HP:0012407Scissor gait4KRAS CL E G H3845144ORPHA14806407190070
HP:0001276HP:0007199Progressive spastic paraparesis4KYNU CL E G H894279155ORPHA1816469605197
HP:0001276HP:0007020Progressive spastic paraplegia4KYNU CL E G H894279155ORPHA1816469605197
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4KYNU CL E G H894279155ORPHA1816469605197
HP:0001276HP:0012407Scissor gait4KYNU CL E G H894279155ORPHA1816469605197
HP:0001276HP:0007199Progressive spastic paraparesis4KYNU CL E G H8942236800Hydroxykynureninuria236800C0268474OMIM1816469605197
HP:0001276HP:0007020Progressive spastic paraplegia4KYNU CL E G H8942236800Hydroxykynureninuria236800C0268474OMIM1816469605197
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4KYNU CL E G H8942236800Hydroxykynureninuria236800C0268474OMIM1816469605197
HP:0001276HP:0012407Scissor gait4KYNU CL E G H8942236800Hydroxykynureninuria236800C0268474OMIM1816469605197
HP:0001276HP:0007199Progressive spastic paraparesis4LARGE1 CL E G H9215588ORPHA17866511603590
HP:0001276HP:0007020Progressive spastic paraplegia4LARGE1 CL E G H9215588ORPHA17866511603590
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4LARGE1 CL E G H9215588ORPHA17866511603590
HP:0001276HP:0012407Scissor gait4LARGE1 CL E G H9215588ORPHA17866511603590
HP:0001276HP:0007199Progressive spastic paraparesis4MBOAT7 CL E G H79143617188Mental retardation, autosomal recessive 57617188C4310673OMIM111315505606048
HP:0001276HP:0007020Progressive spastic paraplegia4MBOAT7 CL E G H79143617188Mental retardation, autosomal recessive 57617188C4310673OMIM111315505606048
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4MBOAT7 CL E G H79143617188Mental retardation, autosomal recessive 57617188C4310673OMIM111315505606048
HP:0001276HP:0012407Scissor gait4MBOAT7 CL E G H79143617188Mental retardation, autosomal recessive 57617188C4310673OMIM111315505606048
HP:0001276HP:0007199Progressive spastic paraparesis4MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM1122216877608507
HP:0001276HP:0007020Progressive spastic paraplegia4MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM1122216877608507
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM1122216877608507
HP:0001276HP:0012407Scissor gait4MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM1122216877608507
HP:0001276HP:0007199Progressive spastic paraparesis4MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11487045602616
HP:0001276HP:0007020Progressive spastic paraplegia4MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11487045602616
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11487045602616
HP:0001276HP:0012407Scissor gait4MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11487045602616
HP:0001276HP:0007199Progressive spastic paraparesis4MIPEP CL E G H4285617228Combined oxidative phosphorylation deficiency 31617228C4310661OMIM12647104602241
HP:0001276HP:0007020Progressive spastic paraplegia4MIPEP CL E G H4285617228Combined oxidative phosphorylation deficiency 31617228C4310661OMIM12647104602241
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4MIPEP CL E G H4285617228Combined oxidative phosphorylation deficiency 31617228C4310661OMIM12647104602241
HP:0001276HP:0012407Scissor gait4MIPEP CL E G H4285617228Combined oxidative phosphorylation deficiency 31617228C4310661OMIM12647104602241
HP:0001276HP:0007199Progressive spastic paraparesis4MLH1 CL E G H4292144ORPHA151227127120436
HP:0001276HP:0007020Progressive spastic paraplegia4MLH1 CL E G H4292144ORPHA151227127120436
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4MLH1 CL E G H4292144ORPHA151227127120436
HP:0001276HP:0012407Scissor gait4MLH1 CL E G H4292144ORPHA151227127120436
HP:0001276HP:0007199Progressive spastic paraparesis4MLH3 CL E G H27030144ORPHA122107128604395
HP:0001276HP:0007020Progressive spastic paraplegia4MLH3 CL E G H27030144ORPHA122107128604395
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4MLH3 CL E G H27030144ORPHA122107128604395
HP:0001276HP:0012407Scissor gait4MLH3 CL E G H27030144ORPHA122107128604395
HP:0001276HP:0007199Progressive spastic paraparesis4MSH2 CL E G H4436144ORPHA168567325609309
HP:0001276HP:0007020Progressive spastic paraplegia4MSH2 CL E G H4436144ORPHA168567325609309
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4MSH2 CL E G H4436144ORPHA168567325609309
HP:0001276HP:0012407Scissor gait4MSH2 CL E G H4436144ORPHA168567325609309
HP:0001276HP:0007199Progressive spastic paraparesis4MSH6 CL E G H2956144ORPHA184387329600678
HP:0001276HP:0007020Progressive spastic paraplegia4MSH6 CL E G H2956144ORPHA184387329600678
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4MSH6 CL E G H2956144ORPHA184387329600678
HP:0001276HP:0012407Scissor gait4MSH6 CL E G H2956144ORPHA184387329600678
HP:0001276HP:0007199Progressive spastic paraparesis4MYO5A CL E G H464479476ORPHA13377602160777
HP:0001276HP:0007020Progressive spastic paraplegia4MYO5A CL E G H464479476ORPHA13377602160777
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4MYO5A CL E G H464479476ORPHA13377602160777
HP:0001276HP:0012407Scissor gait4MYO5A CL E G H464479476ORPHA13377602160777
HP:0001276HP:0007199Progressive spastic paraparesis4NAA10 CL E G H8260300855N-terminal acetyltransferase deficiency300855C3275447OMIM140118704300013
HP:0001276HP:0007020Progressive spastic paraplegia4NAA10 CL E G H8260300855N-terminal acetyltransferase deficiency300855C3275447OMIM140118704300013
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4NAA10 CL E G H8260300855N-terminal acetyltransferase deficiency300855C3275447OMIM140118704300013
HP:0001276HP:0012407Scissor gait4NAA10 CL E G H8260300855N-terminal acetyltransferase deficiency300855C3275447OMIM140118704300013
HP:0001276HP:0007199Progressive spastic paraparesis4NECAP1 CL E G H25977615833Early infantile epileptic encephalopathy 21615833C4014430OMIM122124539611623
HP:0001276HP:0007020Progressive spastic paraplegia4NECAP1 CL E G H25977615833Early infantile epileptic encephalopathy 21615833C4014430OMIM122124539611623
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4NECAP1 CL E G H25977615833Early infantile epileptic encephalopathy 21615833C4014430OMIM122124539611623
HP:0001276HP:0012407Scissor gait4NECAP1 CL E G H25977615833Early infantile epileptic encephalopathy 21615833C4014430OMIM122124539611623
HP:0001276HP:0007199Progressive spastic paraparesis4NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA1154228862608667
HP:0001276HP:0007020Progressive spastic paraplegia4NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA1154228862608667
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA1154228862608667
HP:0001276HP:0012407Scissor gait4NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA1154228862608667
HP:0001276HP:0007199Progressive spastic paraparesis4NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1154228862608667
HP:0001276HP:0007020Progressive spastic paraplegia4NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1154228862608667
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1154228862608667
HP:0001276HP:0012407Scissor gait4NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1154228862608667
HP:0001276HP:0007199Progressive spastic paraparesis4OGDH CL E G H496731Serpiginous choroiditisORPHA11718124613022
HP:0001276HP:0007020Progressive spastic paraplegia4OGDH CL E G H496731Serpiginous choroiditisORPHA11718124613022
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4OGDH CL E G H496731Serpiginous choroiditisORPHA11718124613022
HP:0001276HP:0012407Scissor gait4OGDH CL E G H496731Serpiginous choroiditisORPHA11718124613022
HP:0001276HP:0007199Progressive spastic paraparesis4PAH CL E G H505379254ORPHA114468582612349
HP:0001276HP:0007020Progressive spastic paraplegia4PAH CL E G H505379254ORPHA114468582612349
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4PAH CL E G H505379254ORPHA114468582612349
HP:0001276HP:0012407Scissor gait4PAH CL E G H505379254ORPHA114468582612349
HP:0001276HP:0007199Progressive spastic paraparesis4PARN CL E G H50733322ORPHA16278609604212
HP:0001276HP:0007020Progressive spastic paraplegia4PARN CL E G H50733322ORPHA16278609604212
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4PARN CL E G H50733322ORPHA16278609604212
HP:0001276HP:0012407Scissor gait4PARN CL E G H50733322ORPHA16278609604212
HP:0001276HP:0007199Progressive spastic paraparesis4PAX1 CL E G H50752792Hyperbilirubinemia type 1ORPHA13588615167411
HP:0001276HP:0007020Progressive spastic paraplegia4PAX1 CL E G H50752792Hyperbilirubinemia type 1ORPHA13588615167411
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4PAX1 CL E G H50752792Hyperbilirubinemia type 1ORPHA13588615167411
HP:0001276HP:0012407Scissor gait4PAX1 CL E G H50752792Hyperbilirubinemia type 1ORPHA13588615167411
HP:0001276HP:0007199Progressive spastic paraparesis4PCBD1 CL E G H5092264070Hyperphenylalaninemia, BH4-deficient, D264070C1849700OMIM1918646126090
HP:0001276HP:0007020Progressive spastic paraplegia4PCBD1 CL E G H5092264070Hyperphenylalaninemia, BH4-deficient, D264070C1849700OMIM1918646126090
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4PCBD1 CL E G H5092264070Hyperphenylalaninemia, BH4-deficient, D264070C1849700OMIM1918646126090
HP:0001276HP:0012407Scissor gait4PCBD1 CL E G H5092264070Hyperphenylalaninemia, BH4-deficient, D264070C1849700OMIM1918646126090
HP:0001276HP:0007199Progressive spastic paraparesis4PIK3CA CL E G H5290144ORPHA111598975171834
HP:0001276HP:0007020Progressive spastic paraplegia4PIK3CA CL E G H5290144ORPHA111598975171834
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4PIK3CA CL E G H5290144ORPHA111598975171834
HP:0001276HP:0012407Scissor gait4PIK3CA CL E G H5290144ORPHA111598975171834
HP:0001276HP:0007199Progressive spastic paraparesis4PITX3 CL E G H5309610623Cataract 11610623C1864567OMIM1549006602669
HP:0001276HP:0007020Progressive spastic paraplegia4PITX3 CL E G H5309610623Cataract 11610623C1864567OMIM1549006602669
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4PITX3 CL E G H5309610623Cataract 11610623C1864567OMIM1549006602669
HP:0001276HP:0012407Scissor gait4PITX3 CL E G H5309610623Cataract 11610623C1864567OMIM1549006602669
HP:0001276HP:0007199Progressive spastic paraparesis4PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001276HP:0007020Progressive spastic paraplegia4PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001276HP:0012407Scissor gait4PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001276HP:0007199Progressive spastic paraparesis4PLAA CL E G H9373617527NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES617527C4479631OMIM15059043603873
HP:0001276HP:0007020Progressive spastic paraplegia4PLAA CL E G H9373617527NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES617527C4479631OMIM15059043603873
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4PLAA CL E G H9373617527NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES617527C4479631OMIM15059043603873
HP:0001276HP:0012407Scissor gait4PLAA CL E G H9373617527NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES617527C4479631OMIM15059043603873
HP:0001276HP:0007199Progressive spastic paraparesis4PLK4 CL E G H107332518ORPHA156811397605031
HP:0001276HP:0007020Progressive spastic paraplegia4PLK4 CL E G H107332518ORPHA156811397605031
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4PLK4 CL E G H107332518ORPHA156811397605031
HP:0001276HP:0012407Scissor gait4PLK4 CL E G H107332518ORPHA156811397605031
HP:0001276HP:0007199Progressive spastic paraparesis4PLPBP CL E G H11212617290Epilepsy, early-onset, vitamin b6-dependent617290C4310632OMIM12429457604436
HP:0001276HP:0007020Progressive spastic paraplegia4PLPBP CL E G H11212617290Epilepsy, early-onset, vitamin b6-dependent617290C4310632OMIM12429457604436
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4PLPBP CL E G H11212617290Epilepsy, early-onset, vitamin b6-dependent617290C4310632OMIM12429457604436
HP:0001276HP:0012407Scissor gait4PLPBP CL E G H11212617290Epilepsy, early-onset, vitamin b6-dependent617290C4310632OMIM12429457604436
HP:0001276HP:0007199Progressive spastic paraparesis4PMS1 CL E G H5378144ORPHA11259121600258
HP:0001276HP:0007020Progressive spastic paraplegia4PMS1 CL E G H5378144ORPHA11259121600258
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4PMS1 CL E G H5378144ORPHA11259121600258
HP:0001276HP:0012407Scissor gait4PMS1 CL E G H5378144ORPHA11259121600258
HP:0001276HP:0007199Progressive spastic paraparesis4PMS2 CL E G H5395144ORPHA147199122600259
HP:0001276HP:0007020Progressive spastic paraplegia4PMS2 CL E G H5395144ORPHA147199122600259
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4PMS2 CL E G H5395144ORPHA147199122600259
HP:0001276HP:0012407Scissor gait4PMS2 CL E G H5395144ORPHA147199122600259
HP:0001276HP:0007199Progressive spastic paraparesis4PNPO CL E G H5516379096ORPHA131730260603287
HP:0001276HP:0007020Progressive spastic paraplegia4PNPO CL E G H5516379096ORPHA131730260603287
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4PNPO CL E G H5516379096ORPHA131730260603287
HP:0001276HP:0012407Scissor gait4PNPO CL E G H5516379096ORPHA131730260603287
HP:0001276HP:0007199Progressive spastic paraparesis4PNPO CL E G H55163610090Pyridoxal 5'-phosphate-dependent epilepsy610090C1864723OMIM131730260603287
HP:0001276HP:0007020Progressive spastic paraplegia4PNPO CL E G H55163610090Pyridoxal 5'-phosphate-dependent epilepsy610090C1864723OMIM131730260603287
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4PNPO CL E G H55163610090Pyridoxal 5'-phosphate-dependent epilepsy610090C1864723OMIM131730260603287
HP:0001276HP:0012407Scissor gait4PNPO CL E G H55163610090Pyridoxal 5'-phosphate-dependent epilepsy610090C1864723OMIM131730260603287
HP:0001276HP:0007199Progressive spastic paraparesis4POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM123249179174763
HP:0001276HP:0007020Progressive spastic paraplegia4POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM123249179174763
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM123249179174763
HP:0001276HP:0012407Scissor gait4POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM123249179174763
HP:0001276HP:0007199Progressive spastic paraparesis4POMGNT1 CL E G H55624588ORPHA1117419139606822
HP:0001276HP:0007020Progressive spastic paraplegia4POMGNT1 CL E G H55624588ORPHA1117419139606822
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4POMGNT1 CL E G H55624588ORPHA1117419139606822
HP:0001276HP:0012407Scissor gait4POMGNT1 CL E G H55624588ORPHA1117419139606822
HP:0001276HP:0007199Progressive spastic paraparesis4POMT1 CL E G H10585588ORPHA19069202607423
HP:0001276HP:0007020Progressive spastic paraplegia4POMT1 CL E G H10585588ORPHA19069202607423
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4POMT1 CL E G H10585588ORPHA19069202607423
HP:0001276HP:0012407Scissor gait4POMT1 CL E G H10585588ORPHA19069202607423
HP:0001276HP:0007199Progressive spastic paraparesis4POMT2 CL E G H29954588ORPHA193619743607439
HP:0001276HP:0007020Progressive spastic paraplegia4POMT2 CL E G H29954588ORPHA193619743607439
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4POMT2 CL E G H29954588ORPHA193619743607439
HP:0001276HP:0012407Scissor gait4POMT2 CL E G H29954588ORPHA193619743607439
HP:0001276HP:0007199Progressive spastic paraparesis4PRF1 CL E G H5551603553Hemophagocytic lymphohistiocytosis, familial, 2603553C1863727OMIM15059360170280
HP:0001276HP:0007020Progressive spastic paraplegia4PRF1 CL E G H5551603553Hemophagocytic lymphohistiocytosis, familial, 2603553C1863727OMIM15059360170280
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4PRF1 CL E G H5551603553Hemophagocytic lymphohistiocytosis, familial, 2603553C1863727OMIM15059360170280
HP:0001276HP:0012407Scissor gait4PRF1 CL E G H5551603553Hemophagocytic lymphohistiocytosis, familial, 2603553C1863727OMIM15059360170280
HP:0001276HP:0007199Progressive spastic paraparesis4PRRT2 CL E G H112476306ORPHA179930500614386
HP:0001276HP:0007020Progressive spastic paraplegia4PRRT2 CL E G H112476306ORPHA179930500614386
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4PRRT2 CL E G H112476306ORPHA179930500614386
HP:0001276HP:0012407Scissor gait4PRRT2 CL E G H112476306ORPHA179930500614386
HP:0001276HP:0007199Progressive spastic paraparesis4PSAP CL E G H5660611722Krabbe disease atypical due to Saposin A deficiency611722C2673266OMIM17729498176801
HP:0001276HP:0007020Progressive spastic paraplegia4PSAP CL E G H5660611722Krabbe disease atypical due to Saposin A deficiency611722C2673266OMIM17729498176801
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4PSAP CL E G H5660611722Krabbe disease atypical due to Saposin A deficiency611722C2673266OMIM17729498176801
HP:0001276HP:0012407Scissor gait4PSAP CL E G H5660611722Krabbe disease atypical due to Saposin A deficiency611722C2673266OMIM17729498176801
HP:0001276HP:0007199Progressive spastic paraparesis4PSAT1 CL E G H29968610992Phosphoserine aminotransferase deficiency610992C1970253OMIM149819129610936
HP:0001276HP:0007020Progressive spastic paraplegia4PSAT1 CL E G H29968610992Phosphoserine aminotransferase deficiency610992C1970253OMIM149819129610936
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4PSAT1 CL E G H29968610992Phosphoserine aminotransferase deficiency610992C1970253OMIM149819129610936
HP:0001276HP:0012407Scissor gait4PSAT1 CL E G H29968610992Phosphoserine aminotransferase deficiency610992C1970253OMIM149819129610936
HP:0001276HP:0007199Progressive spastic paraparesis4PSEN1 CL E G H56631020ORPHA15019508104311
HP:0001276HP:0007020Progressive spastic paraplegia4PSEN1 CL E G H56631020ORPHA15019508104311
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4PSEN1 CL E G H56631020ORPHA15019508104311
HP:0001276HP:0012407Scissor gait4PSEN1 CL E G H56631020ORPHA15019508104311
HP:0001276HP:0007199Progressive spastic paraparesis4PSEN2 CL E G H56641020ORPHA12799509600759
HP:0001276HP:0007020Progressive spastic paraplegia4PSEN2 CL E G H56641020ORPHA12799509600759
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4PSEN2 CL E G H56641020ORPHA12799509600759
HP:0001276HP:0012407Scissor gait4PSEN2 CL E G H56641020ORPHA12799509600759
HP:0001276HP:0007199Progressive spastic paraparesis4PSPH CL E G H5723614023Deficiency of phosphoserine phosphatase614023C1291463OMIM11899577172480
HP:0001276HP:0007020Progressive spastic paraplegia4PSPH CL E G H5723614023Deficiency of phosphoserine phosphatase614023C1291463OMIM11899577172480
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4PSPH CL E G H5723614023Deficiency of phosphoserine phosphatase614023C1291463OMIM11899577172480
HP:0001276HP:0012407Scissor gait4PSPH CL E G H5723614023Deficiency of phosphoserine phosphatase614023C1291463OMIM11899577172480
HP:0001276HP:0007199Progressive spastic paraparesis4PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12639689612719
HP:0001276HP:0007020Progressive spastic paraplegia4PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12639689612719
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12639689612719
HP:0001276HP:0012407Scissor gait4PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12639689612719
HP:0001276HP:0007199Progressive spastic paraparesis4QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001276HP:0007020Progressive spastic paraplegia4QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001276HP:0012407Scissor gait4QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001276HP:0007199Progressive spastic paraparesis4RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA13529811606462
HP:0001276HP:0007020Progressive spastic paraplegia4RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA13529811606462
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA13529811606462
HP:0001276HP:0012407Scissor gait4RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA13529811606462
HP:0001276HP:0007199Progressive spastic paraparesis4RTEL1 CL E G H517503322ORPHA1259715888608833
HP:0001276HP:0007020Progressive spastic paraplegia4RTEL1 CL E G H517503322ORPHA1259715888608833
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4RTEL1 CL E G H517503322ORPHA1259715888608833
HP:0001276HP:0012407Scissor gait4RTEL1 CL E G H517503322ORPHA1259715888608833
HP:0001276HP:0007199Progressive spastic paraparesis4SCN2A CL E G H6326306ORPHA1228010588182390
HP:0001276HP:0007020Progressive spastic paraplegia4SCN2A CL E G H6326306ORPHA1228010588182390
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4SCN2A CL E G H6326306ORPHA1228010588182390
HP:0001276HP:0012407Scissor gait4SCN2A CL E G H6326306ORPHA1228010588182390
HP:0001276HP:0007199Progressive spastic paraparesis4SCN4A CL E G H632999734ORPHA1176510591603967
HP:0001276HP:0007020Progressive spastic paraplegia4SCN4A CL E G H632999734ORPHA1176510591603967
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4SCN4A CL E G H632999734ORPHA1176510591603967
HP:0001276HP:0012407Scissor gait4SCN4A CL E G H632999734ORPHA1176510591603967
HP:0001276HP:0007199Progressive spastic paraparesis4SCN4A CL E G H632999735ORPHA1176510591603967
HP:0001276HP:0007020Progressive spastic paraplegia4SCN4A CL E G H632999735ORPHA1176510591603967
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4SCN4A CL E G H632999735ORPHA1176510591603967
HP:0001276HP:0012407Scissor gait4SCN4A CL E G H632999735ORPHA1176510591603967
HP:0001276HP:0007199Progressive spastic paraparesis4SCN4A CL E G H632999736ORPHA1176510591603967
HP:0001276HP:0007020Progressive spastic paraplegia4SCN4A CL E G H632999736ORPHA1176510591603967
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4SCN4A CL E G H632999736ORPHA1176510591603967
HP:0001276HP:0012407Scissor gait4SCN4A CL E G H632999736ORPHA1176510591603967
HP:0001276HP:0007199Progressive spastic paraparesis4SCN8A CL E G H6334306ORPHA1179910596600702
HP:0001276HP:0007020Progressive spastic paraplegia4SCN8A CL E G H6334306ORPHA1179910596600702
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4SCN8A CL E G H6334306ORPHA1179910596600702
HP:0001276HP:0012407Scissor gait4SCN8A CL E G H6334306ORPHA1179910596600702
HP:0001276HP:0007199Progressive spastic paraparesis4SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA190925566615743
HP:0001276HP:0007020Progressive spastic paraplegia4SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA190925566615743
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA190925566615743
HP:0001276HP:0012407Scissor gait4SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA190925566615743
HP:0001276HP:0007199Progressive spastic paraparesis4SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0001276HP:0007020Progressive spastic paraplegia4SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0001276HP:0012407Scissor gait4SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0001276HP:0007199Progressive spastic paraparesis4SLC6A19 CL E G H340024234500Neutral 1 amino acid transport defect234500C0018609OMIM152327960608893
HP:0001276HP:0007020Progressive spastic paraplegia4SLC6A19 CL E G H340024234500Neutral 1 amino acid transport defect234500C0018609OMIM152327960608893
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4SLC6A19 CL E G H340024234500Neutral 1 amino acid transport defect234500C0018609OMIM152327960608893
HP:0001276HP:0012407Scissor gait4SLC6A19 CL E G H340024234500Neutral 1 amino acid transport defect234500C0018609OMIM152327960608893
HP:0001276HP:0007199Progressive spastic paraparesis4SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM158311049126455
HP:0001276HP:0007020Progressive spastic paraplegia4SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM158311049126455
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM158311049126455
HP:0001276HP:0012407Scissor gait4SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM158311049126455
HP:0001276HP:0007199Progressive spastic paraparesis4SLC6A5 CL E G H9152614618Hyperekplexia 3614618C3553288OMIM171811051604159
HP:0001276HP:0007020Progressive spastic paraplegia4SLC6A5 CL E G H9152614618Hyperekplexia 3614618C3553288OMIM171811051604159
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4SLC6A5 CL E G H9152614618Hyperekplexia 3614618C3553288OMIM171811051604159
HP:0001276HP:0012407Scissor gait4SLC6A5 CL E G H9152614618Hyperekplexia 3614618C3553288OMIM171811051604159
HP:0001276HP:0007199Progressive spastic paraparesis4SLC6A8 CL E G H653552503ORPHA1106211055300036
HP:0001276HP:0007020Progressive spastic paraplegia4SLC6A8 CL E G H653552503ORPHA1106211055300036
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4SLC6A8 CL E G H653552503ORPHA1106211055300036
HP:0001276HP:0012407Scissor gait4SLC6A8 CL E G H653552503ORPHA1106211055300036
HP:0001276HP:0007199Progressive spastic paraparesis4SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM126911056601019
HP:0001276HP:0007020Progressive spastic paraplegia4SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM126911056601019
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM126911056601019
HP:0001276HP:0012407Scissor gait4SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM126911056601019
HP:0001276HP:0007199Progressive spastic paraparesis4SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA193911111300040
HP:0001276HP:0007020Progressive spastic paraplegia4SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA193911111300040
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA193911111300040
HP:0001276HP:0012407Scissor gait4SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA193911111300040
HP:0001276HP:0007199Progressive spastic paraparesis4SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA14722468606062
HP:0001276HP:0007020Progressive spastic paraplegia4SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA14722468606062
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA14722468606062
HP:0001276HP:0012407Scissor gait4SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA14722468606062
HP:0001276HP:0007199Progressive spastic paraparesis4SORL1 CL E G H66531020ORPHA153711185602005
HP:0001276HP:0007020Progressive spastic paraplegia4SORL1 CL E G H66531020ORPHA153711185602005
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4SORL1 CL E G H66531020ORPHA153711185602005
HP:0001276HP:0012407Scissor gait4SORL1 CL E G H66531020ORPHA153711185602005
HP:0001276HP:0007199Progressive spastic paraparesis4SOX10 CL E G H6663611584Waardenburg syndrome type 2E611584C2700405OMIM137811190602229
HP:0001276HP:0007020Progressive spastic paraplegia4SOX10 CL E G H6663611584Waardenburg syndrome type 2E611584C2700405OMIM137811190602229
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4SOX10 CL E G H6663611584Waardenburg syndrome type 2E611584C2700405OMIM137811190602229
HP:0001276HP:0012407Scissor gait4SOX10 CL E G H6663611584Waardenburg syndrome type 2E611584C2700405OMIM137811190602229
HP:0001276HP:0007199Progressive spastic paraparesis4SUOX CL E G H6821272300Sulfite oxidase deficiency272300C0268624OMIM135311460606887
HP:0001276HP:0007020Progressive spastic paraplegia4SUOX CL E G H6821272300Sulfite oxidase deficiency272300C0268624OMIM135311460606887
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4SUOX CL E G H6821272300Sulfite oxidase deficiency272300C0268624OMIM135311460606887
HP:0001276HP:0012407Scissor gait4SUOX CL E G H6821272300Sulfite oxidase deficiency272300C0268624OMIM135311460606887
HP:0001276HP:0007199Progressive spastic paraparesis4TERT CL E G H70153322ORPHA1281011730187270
HP:0001276HP:0007020Progressive spastic paraplegia4TERT CL E G H70153322ORPHA1281011730187270
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4TERT CL E G H70153322ORPHA1281011730187270
HP:0001276HP:0012407Scissor gait4TERT CL E G H70153322ORPHA1281011730187270
HP:0001276HP:0007199Progressive spastic paraparesis4TGFBR2 CL E G H7048144ORPHA194811773190182
HP:0001276HP:0007020Progressive spastic paraplegia4TGFBR2 CL E G H7048144ORPHA194811773190182
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4TGFBR2 CL E G H7048144ORPHA194811773190182
HP:0001276HP:0012407Scissor gait4TGFBR2 CL E G H7048144ORPHA194811773190182
HP:0001276HP:0007199Progressive spastic paraparesis4TINF2 CL E G H262773322ORPHA141111824604319
HP:0001276HP:0007020Progressive spastic paraplegia4TINF2 CL E G H262773322ORPHA141111824604319
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4TINF2 CL E G H262773322ORPHA141111824604319
HP:0001276HP:0012407Scissor gait4TINF2 CL E G H262773322ORPHA141111824604319
HP:0001276HP:0007199Progressive spastic paraparesis4TINF2 CL E G H26277268130Revesz syndrome268130C1327916OMIM141111824604319
HP:0001276HP:0007020Progressive spastic paraplegia4TINF2 CL E G H26277268130Revesz syndrome268130C1327916OMIM141111824604319
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4TINF2 CL E G H26277268130Revesz syndrome268130C1327916OMIM141111824604319
HP:0001276HP:0012407Scissor gait4TINF2 CL E G H26277268130Revesz syndrome268130C1327916OMIM141111824604319
HP:0001276HP:0007199Progressive spastic paraparesis4TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0001276HP:0007020Progressive spastic paraplegia4TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0001276HP:0012407Scissor gait4TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0001276HP:0007199Progressive spastic paraparesis4TOMM40 CL E G H104521020ORPHA12918001608061
HP:0001276HP:0007020Progressive spastic paraplegia4TOMM40 CL E G H104521020ORPHA12918001608061
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4TOMM40 CL E G H104521020ORPHA12918001608061
HP:0001276HP:0012407Scissor gait4TOMM40 CL E G H104521020ORPHA12918001608061
HP:0001276HP:0007199Progressive spastic paraparesis4TOR1A CL E G H1861128100Dystonia 1128100C1851945OMIM12203098605204
HP:0001276HP:0007020Progressive spastic paraplegia4TOR1A CL E G H1861128100Dystonia 1128100C1851945OMIM12203098605204
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4TOR1A CL E G H1861128100Dystonia 1128100C1851945OMIM12203098605204
HP:0001276HP:0012407Scissor gait4TOR1A CL E G H1861128100Dystonia 1128100C1851945OMIM12203098605204
HP:0001276HP:0007199Progressive spastic paraparesis4TOR1A CL E G H1861256Schrander-Stumpel Theunissen Hulsmans syndromeORPHA12203098605204
HP:0001276HP:0007020Progressive spastic paraplegia4TOR1A CL E G H1861256Schrander-Stumpel Theunissen Hulsmans syndromeORPHA12203098605204
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4TOR1A CL E G H1861256Schrander-Stumpel Theunissen Hulsmans syndromeORPHA12203098605204
HP:0001276HP:0012407Scissor gait4TOR1A CL E G H1861256Schrander-Stumpel Theunissen Hulsmans syndromeORPHA12203098605204
HP:0001276HP:0007199Progressive spastic paraparesis4TRAF7 CL E G H84231618164CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY618164OMIM115520456606692
HP:0001276HP:0007020Progressive spastic paraplegia4TRAF7 CL E G H84231618164CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY618164OMIM115520456606692
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4TRAF7 CL E G H84231618164CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY618164OMIM115520456606692
HP:0001276HP:0012407Scissor gait4TRAF7 CL E G H84231618164CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY618164OMIM115520456606692
HP:0001276HP:0007199Progressive spastic paraparesis4TREM2 CL E G H542091020ORPHA115417761605086
HP:0001276HP:0007020Progressive spastic paraplegia4TREM2 CL E G H542091020ORPHA115417761605086
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4TREM2 CL E G H542091020ORPHA115417761605086
HP:0001276HP:0012407Scissor gait4TREM2 CL E G H542091020ORPHA115417761605086
HP:0001276HP:0007199Progressive spastic paraparesis4TUBGCP4 CL E G H272292518ORPHA147516691609610
HP:0001276HP:0007020Progressive spastic paraplegia4TUBGCP4 CL E G H272292518ORPHA147516691609610
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4TUBGCP4 CL E G H272292518ORPHA147516691609610
HP:0001276HP:0012407Scissor gait4TUBGCP4 CL E G H272292518ORPHA147516691609610
HP:0001276HP:0007199Progressive spastic paraparesis4TUBGCP6 CL E G H853782518ORPHA1199818127610053
HP:0001276HP:0007020Progressive spastic paraplegia4TUBGCP6 CL E G H853782518ORPHA1199818127610053
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4TUBGCP6 CL E G H853782518ORPHA1199818127610053
HP:0001276HP:0012407Scissor gait4TUBGCP6 CL E G H853782518ORPHA1199818127610053
HP:0001276HP:0007199Progressive spastic paraparesis4VAC14 CL E G H55697617054Striatonigral degeneration, childhood-onset617054C4310743OMIM136725507604632
HP:0001276HP:0007020Progressive spastic paraplegia4VAC14 CL E G H55697617054Striatonigral degeneration, childhood-onset617054C4310743OMIM136725507604632
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4VAC14 CL E G H55697617054Striatonigral degeneration, childhood-onset617054C4310743OMIM136725507604632
HP:0001276HP:0012407Scissor gait4VAC14 CL E G H55697617054Striatonigral degeneration, childhood-onset617054C4310743OMIM136725507604632
HP:0001276HP:0007199Progressive spastic paraparesis4VPS37A CL E G H137492614898Spastic paraplegia 53, autosomal recessive614898C3539494OMIM125924928609927
HP:0001276HP:0007020Progressive spastic paraplegia4VPS37A CL E G H137492614898Spastic paraplegia 53, autosomal recessive614898C3539494OMIM125924928609927
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4VPS37A CL E G H137492614898Spastic paraplegia 53, autosomal recessive614898C3539494OMIM125924928609927
HP:0001276HP:0012407Scissor gait4VPS37A CL E G H137492614898Spastic paraplegia 53, autosomal recessive614898C3539494OMIM125924928609927
HP:0001276HP:0007199Progressive spastic paraparesis4ZSWIM6 CL E G H57688617865NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES617865CN800196OMIM165929316615951
HP:0001276HP:0007020Progressive spastic paraplegia4ZSWIM6 CL E G H57688617865NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES617865CN800196OMIM165929316615951
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4ZSWIM6 CL E G H57688617865NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES617865CN800196OMIM165929316615951
HP:0001276HP:0012407Scissor gait4ZSWIM6 CL E G H57688617865NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES617865CN800196OMIM165929316615951
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001276HP:0001276Hypertonia0ACOX1 CL E G H512971ORPHA0665119609751
HP:0001276HP:0001276Hypertonia0ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM0506129102610
HP:0001276HP:0001276Hypertonia0ADGRG1 CL E G H9289606854Polymicrogyria, bilateral frontoparietal606854C1847352OMIM07834512604110
HP:0001276HP:0001276Hypertonia0ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA039429216610911
HP:0001276HP:0001276Hypertonia0ATP13A2 CL E G H23400306674ORPHA097430213610513
HP:0001276HP:0001276Hypertonia0AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM083514262607270
HP:0001276HP:0001276Hypertonia0BTD CL E G H68679241ORPHA05981122609019
HP:0001276HP:0001276Hypertonia0DHCR7 CL E G H1717818ORPHA07792860602858
HP:0001276HP:0001276Hypertonia0DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA02122910605185
HP:0001276HP:0001276Hypertonia0DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA0108019189614194
HP:0001276HP:0001276Hypertonia0EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA021828526614789
HP:0001276HP:0001276Hypertonia0ERF CL E G H20773267ORPHA01783444611888
HP:0001276HP:0001276Hypertonia0HUWE1 CL E G H1007585328ORPHA0128530892300697
HP:0001276HP:0001276Hypertonia0KCNA1 CL E G H373637612ORPHA05756218176260
HP:0001276HP:0001276Hypertonia0LAGE3 CL E G H82702065ORPHA027026058300060
HP:0001276HP:0001276Hypertonia0LYST CL E G H1130352723ORPHA025751968606897
HP:0001276HP:0001276Hypertonia0MORC2 CL E G H22880616688Charcot-Marie-Tooth disease, axonal, type 2z616688C4225243OMIM072623573616661
HP:0001276HP:0001276Hypertonia0MPDU1 CL E G H9526609180Congenital disorder of glycosylation type 1F609180C1836669OMIM01257207604041
HP:0001276HP:0001276Hypertonia0NAA10 CL E G H8260276432ORPHA040118704300013
HP:0001276HP:0001276Hypertonia0NDE1 CL E G H54820614019Lissencephaly 4614019C3151461OMIM0162317619609449
HP:0001276HP:0001276Hypertonia0NDP CL E G H4693649ORPHA02997678300658
HP:0001276HP:0001276Hypertonia0NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM06715911614154
HP:0001276HP:0001276Hypertonia0NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA031877881190198
HP:0001276HP:0001276Hypertonia0NPHP3 CL E G H27031267010Meckel syndrome type 7267010C2673885OMIM011067907608002
HP:0001276HP:0001276Hypertonia0NUP107 CL E G H571222065ORPHA024229914607617
HP:0001276HP:0001276Hypertonia0OSGEP CL E G H556442065ORPHA015218028610107
HP:0001276HP:0001276Hypertonia0POLG CL E G H5428254892ORPHA023249179174763
HP:0001276HP:0001276Hypertonia0POLG2 CL E G H11232254892ORPHA03579180604983
HP:0001276HP:0001276Hypertonia0PSPH CL E G H572379350ORPHA01899577172480
HP:0001276HP:0001276Hypertonia0RAB27A CL E G H587379477ORPHA02989766603868
HP:0001276HP:0001276Hypertonia0RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA01865724147183
HP:0001276HP:0001276Hypertonia0RRM2B CL E G H50484254892ORPHA035417296604712
HP:0001276HP:0001276Hypertonia0SCN4A CL E G H6329682ORPHA0176510591603967
HP:0001276HP:0001276Hypertonia0SLC25A4 CL E G H291254892ORPHA033310990103220
HP:0001276HP:0001276Hypertonia0TBL1XR1 CL E G H79718602342Pierpont syndrome602342C1865644OMIM050229529608628
HP:0001276HP:0001276Hypertonia0TP53 CL E G H71572807ORPHA0297711998191170
HP:0001276HP:0001276Hypertonia0TP53RK CL E G H1128582065ORPHA07016197608679
HP:0001276HP:0001276Hypertonia0TPRKB CL E G H510022065ORPHA04624259608680
HP:0001276HP:0001276Hypertonia0TTPA CL E G H727496ORPHA038912404600415
HP:0001276HP:0001276Hypertonia0TWNK CL E G H56652254892ORPHA04501160606075
HP:0001276HP:0001276Hypertonia0WDR4 CL E G H107852065ORPHA028212756605924
HP:0001276HP:0001276Hypertonia0WDR73 CL E G H849422065ORPHA022025928616144
HP:0001276HP:0002509Limb hypertonia1ACOX1 CL E G H512971ORPHA0665119609751
HP:0001276HP:0031867Neck hypertonia1ACOX1 CL E G H512971ORPHA0665119609751
HP:0001276HP:0002063Rigidity1ACOX1 CL E G H512971ORPHA0665119609751
HP:0001276HP:0001257Spasticity1ACOX1 CL E G H512971ORPHA0665119609751
HP:0001276HP:0002509Limb hypertonia1ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM0506129102610
HP:0001276HP:0031867Neck hypertonia1ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM0506129102610
HP:0001276HP:0002063Rigidity1ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM0506129102610
HP:0001276HP:0001257Spasticity1ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM0506129102610
HP:0001276HP:0002509Limb hypertonia1ADGRG1 CL E G H9289606854Polymicrogyria, bilateral frontoparietal606854C1847352OMIM07834512604110
HP:0001276HP:0031867Neck hypertonia1ADGRG1 CL E G H9289606854Polymicrogyria, bilateral frontoparietal606854C1847352OMIM07834512604110
HP:0001276HP:0002063Rigidity1ADGRG1 CL E G H9289606854Polymicrogyria, bilateral frontoparietal606854C1847352OMIM07834512604110
HP:0001276HP:0001257Spasticity1ADGRG1 CL E G H9289606854Polymicrogyria, bilateral frontoparietal606854C1847352OMIM07834512604110
HP:0001276HP:0002509Limb hypertonia1ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA039429216610911
HP:0001276HP:0031867Neck hypertonia1ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA039429216610911
HP:0001276HP:0002063Rigidity1ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA039429216610911
HP:0001276HP:0001257Spasticity1ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA039429216610911
HP:0001276HP:0002509Limb hypertonia1ATP13A2 CL E G H23400306674ORPHA097430213610513
HP:0001276HP:0031867Neck hypertonia1ATP13A2 CL E G H23400306674ORPHA097430213610513
HP:0001276HP:0002063Rigidity1ATP13A2 CL E G H23400306674ORPHA097430213610513
HP:0001276HP:0001257Spasticity1ATP13A2 CL E G H23400306674ORPHA097430213610513
HP:0001276HP:0002509Limb hypertonia1AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM083514262607270
HP:0001276HP:0031867Neck hypertonia1AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM083514262607270
HP:0001276HP:0002063Rigidity1AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM083514262607270
HP:0001276HP:0001257Spasticity1AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM083514262607270
HP:0001276HP:0002509Limb hypertonia1BTD CL E G H68679241ORPHA05981122609019
HP:0001276HP:0031867Neck hypertonia1BTD CL E G H68679241ORPHA05981122609019
HP:0001276HP:0002063Rigidity1BTD CL E G H68679241ORPHA05981122609019
HP:0001276HP:0001257Spasticity1BTD CL E G H68679241ORPHA05981122609019
HP:0001276HP:0002509Limb hypertonia1DHCR7 CL E G H1717818ORPHA07792860602858
HP:0001276HP:0031867Neck hypertonia1DHCR7 CL E G H1717818ORPHA07792860602858
HP:0001276HP:0002063Rigidity1DHCR7 CL E G H1717818ORPHA07792860602858
HP:0001276HP:0001257Spasticity1DHCR7 CL E G H1717818ORPHA07792860602858
HP:0001276HP:0002509Limb hypertonia1DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA02122910605185
HP:0001276HP:0031867Neck hypertonia1DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA02122910605185
HP:0001276HP:0002063Rigidity1DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA02122910605185
HP:0001276HP:0001257Spasticity1DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA02122910605185
HP:0001276HP:0002509Limb hypertonia1DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA0108019189614194
HP:0001276HP:0031867Neck hypertonia1DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA0108019189614194
HP:0001276HP:0002063Rigidity1DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA0108019189614194
HP:0001276HP:0001257Spasticity1DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA0108019189614194
HP:0001276HP:0002509Limb hypertonia1EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA021828526614789
HP:0001276HP:0031867Neck hypertonia1EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA021828526614789
HP:0001276HP:0002063Rigidity1EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA021828526614789
HP:0001276HP:0001257Spasticity1EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA021828526614789
HP:0001276HP:0002509Limb hypertonia1ERF CL E G H20773267ORPHA01783444611888
HP:0001276HP:0031867Neck hypertonia1ERF CL E G H20773267ORPHA01783444611888
HP:0001276HP:0002063Rigidity1ERF CL E G H20773267ORPHA01783444611888
HP:0001276HP:0001257Spasticity1ERF CL E G H20773267ORPHA01783444611888
HP:0001276HP:0002509Limb hypertonia1HUWE1 CL E G H1007585328ORPHA0128530892300697
HP:0001276HP:0031867Neck hypertonia1HUWE1 CL E G H1007585328ORPHA0128530892300697
HP:0001276HP:0002063Rigidity1HUWE1 CL E G H1007585328ORPHA0128530892300697
HP:0001276HP:0001257Spasticity1HUWE1 CL E G H1007585328ORPHA0128530892300697
HP:0001276HP:0002509Limb hypertonia1KCNA1 CL E G H373637612ORPHA05756218176260
HP:0001276HP:0031867Neck hypertonia1KCNA1 CL E G H373637612ORPHA05756218176260
HP:0001276HP:0002063Rigidity1KCNA1 CL E G H373637612ORPHA05756218176260
HP:0001276HP:0001257Spasticity1KCNA1 CL E G H373637612ORPHA05756218176260
HP:0001276HP:0002509Limb hypertonia1LAGE3 CL E G H82702065ORPHA027026058300060
HP:0001276HP:0031867Neck hypertonia1LAGE3 CL E G H82702065ORPHA027026058300060
HP:0001276HP:0002063Rigidity1LAGE3 CL E G H82702065ORPHA027026058300060
HP:0001276HP:0001257Spasticity1LAGE3 CL E G H82702065ORPHA027026058300060
HP:0001276HP:0002509Limb hypertonia1LYST CL E G H1130352723ORPHA025751968606897
HP:0001276HP:0031867Neck hypertonia1LYST CL E G H1130352723ORPHA025751968606897
HP:0001276HP:0002063Rigidity1LYST CL E G H1130352723ORPHA025751968606897
HP:0001276HP:0001257Spasticity1LYST CL E G H1130352723ORPHA025751968606897
HP:0001276HP:0002509Limb hypertonia1MORC2 CL E G H22880616688Charcot-Marie-Tooth disease, axonal, type 2z616688C4225243OMIM072623573616661
HP:0001276HP:0031867Neck hypertonia1MORC2 CL E G H22880616688Charcot-Marie-Tooth disease, axonal, type 2z616688C4225243OMIM072623573616661
HP:0001276HP:0002063Rigidity1MORC2 CL E G H22880616688Charcot-Marie-Tooth disease, axonal, type 2z616688C4225243OMIM072623573616661
HP:0001276HP:0001257Spasticity1MORC2 CL E G H22880616688Charcot-Marie-Tooth disease, axonal, type 2z616688C4225243OMIM072623573616661
HP:0001276HP:0002509Limb hypertonia1MPDU1 CL E G H9526609180Congenital disorder of glycosylation type 1F609180C1836669OMIM01257207604041
HP:0001276HP:0031867Neck hypertonia1MPDU1 CL E G H9526609180Congenital disorder of glycosylation type 1F609180C1836669OMIM01257207604041
HP:0001276HP:0002063Rigidity1MPDU1 CL E G H9526609180Congenital disorder of glycosylation type 1F609180C1836669OMIM01257207604041
HP:0001276HP:0001257Spasticity1MPDU1 CL E G H9526609180Congenital disorder of glycosylation type 1F609180C1836669OMIM01257207604041
HP:0001276HP:0002509Limb hypertonia1NAA10 CL E G H8260276432ORPHA040118704300013
HP:0001276HP:0031867Neck hypertonia1NAA10 CL E G H8260276432ORPHA040118704300013
HP:0001276HP:0002063Rigidity1NAA10 CL E G H8260276432ORPHA040118704300013
HP:0001276HP:0001257Spasticity1NAA10 CL E G H8260276432ORPHA040118704300013
HP:0001276HP:0002509Limb hypertonia1NDE1 CL E G H54820614019Lissencephaly 4614019C3151461OMIM0162317619609449
HP:0001276HP:0031867Neck hypertonia1NDE1 CL E G H54820614019Lissencephaly 4614019C3151461OMIM0162317619609449
HP:0001276HP:0002063Rigidity1NDE1 CL E G H54820614019Lissencephaly 4614019C3151461OMIM0162317619609449
HP:0001276HP:0001257Spasticity1NDE1 CL E G H54820614019Lissencephaly 4614019C3151461OMIM0162317619609449
HP:0001276HP:0002509Limb hypertonia1NDP CL E G H4693649ORPHA02997678300658
HP:0001276HP:0031867Neck hypertonia1NDP CL E G H4693649ORPHA02997678300658
HP:0001276HP:0002063Rigidity1NDP CL E G H4693649ORPHA02997678300658
HP:0001276HP:0001257Spasticity1NDP CL E G H4693649ORPHA02997678300658
HP:0001276HP:0002509Limb hypertonia1NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM06715911614154
HP:0001276HP:0031867Neck hypertonia1NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM06715911614154
HP:0001276HP:0002063Rigidity1NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM06715911614154
HP:0001276HP:0001257Spasticity1NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM06715911614154
HP:0001276HP:0002509Limb hypertonia1NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA031877881190198
HP:0001276HP:0031867Neck hypertonia1NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA031877881190198
HP:0001276HP:0002063Rigidity1NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA031877881190198
HP:0001276HP:0001257Spasticity1NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA031877881190198
HP:0001276HP:0002509Limb hypertonia1NPHP3 CL E G H27031267010Meckel syndrome type 7267010C2673885OMIM011067907608002
HP:0001276HP:0031867Neck hypertonia1NPHP3 CL E G H27031267010Meckel syndrome type 7267010C2673885OMIM011067907608002
HP:0001276HP:0002063Rigidity1NPHP3 CL E G H27031267010Meckel syndrome type 7267010C2673885OMIM011067907608002
HP:0001276HP:0001257Spasticity1NPHP3 CL E G H27031267010Meckel syndrome type 7267010C2673885OMIM011067907608002
HP:0001276HP:0002509Limb hypertonia1NUP107 CL E G H571222065ORPHA024229914607617
HP:0001276HP:0031867Neck hypertonia1NUP107 CL E G H571222065ORPHA024229914607617
HP:0001276HP:0002063Rigidity1NUP107 CL E G H571222065ORPHA024229914607617
HP:0001276HP:0001257Spasticity1NUP107 CL E G H571222065ORPHA024229914607617
HP:0001276HP:0002509Limb hypertonia1OSGEP CL E G H556442065ORPHA015218028610107
HP:0001276HP:0031867Neck hypertonia1OSGEP CL E G H556442065ORPHA015218028610107
HP:0001276HP:0002063Rigidity1OSGEP CL E G H556442065ORPHA015218028610107
HP:0001276HP:0001257Spasticity1OSGEP CL E G H556442065ORPHA015218028610107
HP:0001276HP:0002509Limb hypertonia1POLG CL E G H5428254892ORPHA023249179174763
HP:0001276HP:0031867Neck hypertonia1POLG CL E G H5428254892ORPHA023249179174763
HP:0001276HP:0002063Rigidity1POLG CL E G H5428254892ORPHA023249179174763
HP:0001276HP:0001257Spasticity1POLG CL E G H5428254892ORPHA023249179174763
HP:0001276HP:0002509Limb hypertonia1POLG2 CL E G H11232254892ORPHA03579180604983
HP:0001276HP:0031867Neck hypertonia1POLG2 CL E G H11232254892ORPHA03579180604983
HP:0001276HP:0002063Rigidity1POLG2 CL E G H11232254892ORPHA03579180604983
HP:0001276HP:0001257Spasticity1POLG2 CL E G H11232254892ORPHA03579180604983
HP:0001276HP:0002509Limb hypertonia1PSPH CL E G H572379350ORPHA01899577172480
HP:0001276HP:0031867Neck hypertonia1PSPH CL E G H572379350ORPHA01899577172480
HP:0001276HP:0002063Rigidity1PSPH CL E G H572379350ORPHA01899577172480
HP:0001276HP:0001257Spasticity1PSPH CL E G H572379350ORPHA01899577172480
HP:0001276HP:0002509Limb hypertonia1RAB27A CL E G H587379477ORPHA02989766603868
HP:0001276HP:0031867Neck hypertonia1RAB27A CL E G H587379477ORPHA02989766603868
HP:0001276HP:0002063Rigidity1RAB27A CL E G H587379477ORPHA02989766603868
HP:0001276HP:0001257Spasticity1RAB27A CL E G H587379477ORPHA02989766603868
HP:0001276HP:0002509Limb hypertonia1RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA01865724147183
HP:0001276HP:0031867Neck hypertonia1RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA01865724147183
HP:0001276HP:0002063Rigidity1RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA01865724147183
HP:0001276HP:0001257Spasticity1RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA01865724147183
HP:0001276HP:0002509Limb hypertonia1RRM2B CL E G H50484254892ORPHA035417296604712
HP:0001276HP:0031867Neck hypertonia1RRM2B CL E G H50484254892ORPHA035417296604712
HP:0001276HP:0002063Rigidity1RRM2B CL E G H50484254892ORPHA035417296604712
HP:0001276HP:0001257Spasticity1RRM2B CL E G H50484254892ORPHA035417296604712
HP:0001276HP:0002509Limb hypertonia1SCN4A CL E G H6329682ORPHA0176510591603967
HP:0001276HP:0031867Neck hypertonia1SCN4A CL E G H6329682ORPHA0176510591603967
HP:0001276HP:0002063Rigidity1SCN4A CL E G H6329682ORPHA0176510591603967
HP:0001276HP:0001257Spasticity1SCN4A CL E G H6329682ORPHA0176510591603967
HP:0001276HP:0002509Limb hypertonia1SLC25A4 CL E G H291254892ORPHA033310990103220
HP:0001276HP:0031867Neck hypertonia1SLC25A4 CL E G H291254892ORPHA033310990103220
HP:0001276HP:0002063Rigidity1SLC25A4 CL E G H291254892ORPHA033310990103220
HP:0001276HP:0001257Spasticity1SLC25A4 CL E G H291254892ORPHA033310990103220
HP:0001276HP:0002509Limb hypertonia1TBL1XR1 CL E G H79718602342Pierpont syndrome602342C1865644OMIM050229529608628
HP:0001276HP:0031867Neck hypertonia1TBL1XR1 CL E G H79718602342Pierpont syndrome602342C1865644OMIM050229529608628
HP:0001276HP:0002063Rigidity1TBL1XR1 CL E G H79718602342Pierpont syndrome602342C1865644OMIM050229529608628
HP:0001276HP:0001257Spasticity1TBL1XR1 CL E G H79718602342Pierpont syndrome602342C1865644OMIM050229529608628
HP:0001276HP:0002509Limb hypertonia1TP53 CL E G H71572807ORPHA0297711998191170
HP:0001276HP:0031867Neck hypertonia1TP53 CL E G H71572807ORPHA0297711998191170
HP:0001276HP:0002063Rigidity1TP53 CL E G H71572807ORPHA0297711998191170
HP:0001276HP:0001257Spasticity1TP53 CL E G H71572807ORPHA0297711998191170
HP:0001276HP:0002509Limb hypertonia1TP53RK CL E G H1128582065ORPHA07016197608679
HP:0001276HP:0031867Neck hypertonia1TP53RK CL E G H1128582065ORPHA07016197608679
HP:0001276HP:0002063Rigidity1TP53RK CL E G H1128582065ORPHA07016197608679
HP:0001276HP:0001257Spasticity1TP53RK CL E G H1128582065ORPHA07016197608679
HP:0001276HP:0002509Limb hypertonia1TPRKB CL E G H510022065ORPHA04624259608680
HP:0001276HP:0031867Neck hypertonia1TPRKB CL E G H510022065ORPHA04624259608680
HP:0001276HP:0002063Rigidity1TPRKB CL E G H510022065ORPHA04624259608680
HP:0001276HP:0001257Spasticity1TPRKB CL E G H510022065ORPHA04624259608680
HP:0001276HP:0002509Limb hypertonia1TTPA CL E G H727496ORPHA038912404600415
HP:0001276HP:0031867Neck hypertonia1TTPA CL E G H727496ORPHA038912404600415
HP:0001276HP:0002063Rigidity1TTPA CL E G H727496ORPHA038912404600415
HP:0001276HP:0001257Spasticity1TTPA CL E G H727496ORPHA038912404600415
HP:0001276HP:0002509Limb hypertonia1TWNK CL E G H56652254892ORPHA04501160606075
HP:0001276HP:0031867Neck hypertonia1TWNK CL E G H56652254892ORPHA04501160606075
HP:0001276HP:0002063Rigidity1TWNK CL E G H56652254892ORPHA04501160606075
HP:0001276HP:0001257Spasticity1TWNK CL E G H56652254892ORPHA04501160606075
HP:0001276HP:0002509Limb hypertonia1WDR4 CL E G H107852065ORPHA028212756605924
HP:0001276HP:0031867Neck hypertonia1WDR4 CL E G H107852065ORPHA028212756605924
HP:0001276HP:0002063Rigidity1WDR4 CL E G H107852065ORPHA028212756605924
HP:0001276HP:0001257Spasticity1WDR4 CL E G H107852065ORPHA028212756605924
HP:0001276HP:0002509Limb hypertonia1WDR73 CL E G H849422065ORPHA022025928616144
HP:0001276HP:0031867Neck hypertonia1WDR73 CL E G H849422065ORPHA022025928616144
HP:0001276HP:0002063Rigidity1WDR73 CL E G H849422065ORPHA022025928616144
HP:0001276HP:0001257Spasticity1WDR73 CL E G H849422065ORPHA022025928616144
HP:0001276HP:0002491Spasticity of facial muscles2ACOX1 CL E G H512971ORPHA0665119609751
HP:0001276HP:0200049Upper limb hypertonia2ACOX1 CL E G H512971ORPHA0665119609751
HP:0001276HP:0006895Lower limb hypertonia2ACOX1 CL E G H512971ORPHA0665119609751
HP:0001276HP:0002396Cogwheel rigidity2ACOX1 CL E G H512971ORPHA0665119609751
HP:0001276HP:0025013Decerebrate rigidity2ACOX1 CL E G H512971ORPHA0665119609751
HP:0001276HP:0011444Decorticate rigidity2ACOX1 CL E G H512971ORPHA0665119609751
HP:0001276HP:0007076Extrapyramidal muscular rigidity2ACOX1 CL E G H512971ORPHA0665119609751
HP:0001276HP:0031866Clasp-knife sign2ACOX1 CL E G H512971ORPHA0665119609751
HP:0001276HP:0002061Lower limb spasticity2ACOX1 CL E G H512971ORPHA0665119609751
HP:0001276HP:0002179Opisthotonus2ACOX1 CL E G H512971ORPHA0665119609751
HP:0001276HP:0002191Progressive spasticity2ACOX1 CL E G H512971ORPHA0665119609751
HP:0001276HP:0001264Spastic diplegia2ACOX1 CL E G H512971ORPHA0665119609751
HP:0001276HP:0002464Spastic dysarthria2ACOX1 CL E G H512971ORPHA0665119609751
HP:0001276HP:0002064Spastic gait2ACOX1 CL E G H512971ORPHA0665119609751
HP:0001276HP:0011099Spastic hemiparesis2ACOX1 CL E G H512971ORPHA0665119609751
HP:0001276HP:0001285Spastic tetraparesis2ACOX1 CL E G H512971ORPHA0665119609751
HP:0001276HP:0002510Spastic tetraplegia2ACOX1 CL E G H512971ORPHA0665119609751
HP:0001276HP:0002501Spasticity of pharyngeal muscles2ACOX1 CL E G H512971ORPHA0665119609751
HP:0001276HP:0006986Upper limb spasticity2ACOX1 CL E G H512971ORPHA0665119609751
HP:0001276HP:0002491Spasticity of facial muscles2ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM0506129102610
HP:0001276HP:0200049Upper limb hypertonia2ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM0506129102610
HP:0001276HP:0006895Lower limb hypertonia2ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM0506129102610
HP:0001276HP:0002396Cogwheel rigidity2ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM0506129102610
HP:0001276HP:0025013Decerebrate rigidity2ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM0506129102610
HP:0001276HP:0011444Decorticate rigidity2ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM0506129102610
HP:0001276HP:0007076Extrapyramidal muscular rigidity2ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM0506129102610
HP:0001276HP:0031866Clasp-knife sign2ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM0506129102610
HP:0001276HP:0002061Lower limb spasticity2ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM0506129102610
HP:0001276HP:0002179Opisthotonus2ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM0506129102610
HP:0001276HP:0002191Progressive spasticity2ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM0506129102610
HP:0001276HP:0001264Spastic diplegia2ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM0506129102610
HP:0001276HP:0002464Spastic dysarthria2ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM0506129102610
HP:0001276HP:0002064Spastic gait2ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM0506129102610
HP:0001276HP:0011099Spastic hemiparesis2ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM0506129102610
HP:0001276HP:0001285Spastic tetraparesis2ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM0506129102610
HP:0001276HP:0002510Spastic tetraplegia2ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM0506129102610
HP:0001276HP:0002501Spasticity of pharyngeal muscles2ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM0506129102610
HP:0001276HP:0006986Upper limb spasticity2ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM0506129102610
HP:0001276HP:0002491Spasticity of facial muscles2ADGRG1 CL E G H9289606854Polymicrogyria, bilateral frontoparietal606854C1847352OMIM07834512604110
HP:0001276HP:0200049Upper limb hypertonia2ADGRG1 CL E G H9289606854Polymicrogyria, bilateral frontoparietal606854C1847352OMIM07834512604110
HP:0001276HP:0006895Lower limb hypertonia2ADGRG1 CL E G H9289606854Polymicrogyria, bilateral frontoparietal606854C1847352OMIM07834512604110
HP:0001276HP:0002396Cogwheel rigidity2ADGRG1 CL E G H9289606854Polymicrogyria, bilateral frontoparietal606854C1847352OMIM07834512604110
HP:0001276HP:0025013Decerebrate rigidity2ADGRG1 CL E G H9289606854Polymicrogyria, bilateral frontoparietal606854C1847352OMIM07834512604110
HP:0001276HP:0011444Decorticate rigidity2ADGRG1 CL E G H9289606854Polymicrogyria, bilateral frontoparietal606854C1847352OMIM07834512604110
HP:0001276HP:0007076Extrapyramidal muscular rigidity2ADGRG1 CL E G H9289606854Polymicrogyria, bilateral frontoparietal606854C1847352OMIM07834512604110
HP:0001276HP:0031866Clasp-knife sign2ADGRG1 CL E G H9289606854Polymicrogyria, bilateral frontoparietal606854C1847352OMIM07834512604110
HP:0001276HP:0002061Lower limb spasticity2ADGRG1 CL E G H9289606854Polymicrogyria, bilateral frontoparietal606854C1847352OMIM07834512604110
HP:0001276HP:0002179Opisthotonus2ADGRG1 CL E G H9289606854Polymicrogyria, bilateral frontoparietal606854C1847352OMIM07834512604110
HP:0001276HP:0002191Progressive spasticity2ADGRG1 CL E G H9289606854Polymicrogyria, bilateral frontoparietal606854C1847352OMIM07834512604110
HP:0001276HP:0001264Spastic diplegia2ADGRG1 CL E G H9289606854Polymicrogyria, bilateral frontoparietal606854C1847352OMIM07834512604110
HP:0001276HP:0002464Spastic dysarthria2ADGRG1 CL E G H9289606854Polymicrogyria, bilateral frontoparietal606854C1847352OMIM07834512604110
HP:0001276HP:0002064Spastic gait2ADGRG1 CL E G H9289606854Polymicrogyria, bilateral frontoparietal606854C1847352OMIM07834512604110
HP:0001276HP:0011099Spastic hemiparesis2ADGRG1 CL E G H9289606854Polymicrogyria, bilateral frontoparietal606854C1847352OMIM07834512604110
HP:0001276HP:0001285Spastic tetraparesis2ADGRG1 CL E G H9289606854Polymicrogyria, bilateral frontoparietal606854C1847352OMIM07834512604110
HP:0001276HP:0002510Spastic tetraplegia2ADGRG1 CL E G H9289606854Polymicrogyria, bilateral frontoparietal606854C1847352OMIM07834512604110
HP:0001276HP:0002501Spasticity of pharyngeal muscles2ADGRG1 CL E G H9289606854Polymicrogyria, bilateral frontoparietal606854C1847352OMIM07834512604110
HP:0001276HP:0006986Upper limb spasticity2ADGRG1 CL E G H9289606854Polymicrogyria, bilateral frontoparietal606854C1847352OMIM07834512604110
HP:0001276HP:0002491Spasticity of facial muscles2ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA039429216610911
HP:0001276HP:0200049Upper limb hypertonia2ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA039429216610911
HP:0001276HP:0006895Lower limb hypertonia2ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA039429216610911
HP:0001276HP:0002396Cogwheel rigidity2ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA039429216610911
HP:0001276HP:0025013Decerebrate rigidity2ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA039429216610911
HP:0001276HP:0011444Decorticate rigidity2ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA039429216610911
HP:0001276HP:0007076Extrapyramidal muscular rigidity2ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA039429216610911
HP:0001276HP:0031866Clasp-knife sign2ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA039429216610911
HP:0001276HP:0002061Lower limb spasticity2ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA039429216610911
HP:0001276HP:0002179Opisthotonus2ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA039429216610911
HP:0001276HP:0002191Progressive spasticity2ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA039429216610911
HP:0001276HP:0001264Spastic diplegia2ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA039429216610911
HP:0001276HP:0002464Spastic dysarthria2ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA039429216610911
HP:0001276HP:0002064Spastic gait2ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA039429216610911
HP:0001276HP:0011099Spastic hemiparesis2ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA039429216610911
HP:0001276HP:0001285Spastic tetraparesis2ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA039429216610911
HP:0001276HP:0002510Spastic tetraplegia2ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA039429216610911
HP:0001276HP:0002501Spasticity of pharyngeal muscles2ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA039429216610911
HP:0001276HP:0006986Upper limb spasticity2ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA039429216610911
HP:0001276HP:0002491Spasticity of facial muscles2ATP13A2 CL E G H23400306674ORPHA097430213610513
HP:0001276HP:0200049Upper limb hypertonia2ATP13A2 CL E G H23400306674ORPHA097430213610513
HP:0001276HP:0006895Lower limb hypertonia2ATP13A2 CL E G H23400306674ORPHA097430213610513
HP:0001276HP:0002396Cogwheel rigidity2ATP13A2 CL E G H23400306674ORPHA097430213610513
HP:0001276HP:0025013Decerebrate rigidity2ATP13A2 CL E G H23400306674ORPHA097430213610513
HP:0001276HP:0011444Decorticate rigidity2ATP13A2 CL E G H23400306674ORPHA097430213610513
HP:0001276HP:0007076Extrapyramidal muscular rigidity2ATP13A2 CL E G H23400306674ORPHA097430213610513
HP:0001276HP:0031866Clasp-knife sign2ATP13A2 CL E G H23400306674ORPHA097430213610513
HP:0001276HP:0002061Lower limb spasticity2ATP13A2 CL E G H23400306674ORPHA097430213610513
HP:0001276HP:0002179Opisthotonus2ATP13A2 CL E G H23400306674ORPHA097430213610513
HP:0001276HP:0002191Progressive spasticity2ATP13A2 CL E G H23400306674ORPHA097430213610513
HP:0001276HP:0001264Spastic diplegia2ATP13A2 CL E G H23400306674ORPHA097430213610513
HP:0001276HP:0002464Spastic dysarthria2ATP13A2 CL E G H23400306674ORPHA097430213610513
HP:0001276HP:0002064Spastic gait2ATP13A2 CL E G H23400306674ORPHA097430213610513
HP:0001276HP:0011099Spastic hemiparesis2ATP13A2 CL E G H23400306674ORPHA097430213610513
HP:0001276HP:0001285Spastic tetraparesis2ATP13A2 CL E G H23400306674ORPHA097430213610513
HP:0001276HP:0002510Spastic tetraplegia2ATP13A2 CL E G H23400306674ORPHA097430213610513
HP:0001276HP:0002501Spasticity of pharyngeal muscles2ATP13A2 CL E G H23400306674ORPHA097430213610513
HP:0001276HP:0006986Upper limb spasticity2ATP13A2 CL E G H23400306674ORPHA097430213610513
HP:0001276HP:0002491Spasticity of facial muscles2AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM083514262607270
HP:0001276HP:0200049Upper limb hypertonia2AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM083514262607270
HP:0001276HP:0006895Lower limb hypertonia2AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM083514262607270
HP:0001276HP:0002396Cogwheel rigidity2AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM083514262607270
HP:0001276HP:0025013Decerebrate rigidity2AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM083514262607270
HP:0001276HP:0011444Decorticate rigidity2AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM083514262607270
HP:0001276HP:0007076Extrapyramidal muscular rigidity2AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM083514262607270
HP:0001276HP:0031866Clasp-knife sign2AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM083514262607270
HP:0001276HP:0002061Lower limb spasticity2AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM083514262607270
HP:0001276HP:0002179Opisthotonus2AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM083514262607270
HP:0001276HP:0002191Progressive spasticity2AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM083514262607270
HP:0001276HP:0001264Spastic diplegia2AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM083514262607270
HP:0001276HP:0002464Spastic dysarthria2AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM083514262607270
HP:0001276HP:0002064Spastic gait2AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM083514262607270
HP:0001276HP:0011099Spastic hemiparesis2AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM083514262607270
HP:0001276HP:0001285Spastic tetraparesis2AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM083514262607270
HP:0001276HP:0002510Spastic tetraplegia2AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM083514262607270
HP:0001276HP:0002501Spasticity of pharyngeal muscles2AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM083514262607270
HP:0001276HP:0006986Upper limb spasticity2AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM083514262607270
HP:0001276HP:0002491Spasticity of facial muscles2BTD CL E G H68679241ORPHA05981122609019
HP:0001276HP:0200049Upper limb hypertonia2BTD CL E G H68679241ORPHA05981122609019
HP:0001276HP:0006895Lower limb hypertonia2BTD CL E G H68679241ORPHA05981122609019
HP:0001276HP:0002396Cogwheel rigidity2BTD CL E G H68679241ORPHA05981122609019
HP:0001276HP:0025013Decerebrate rigidity2BTD CL E G H68679241ORPHA05981122609019
HP:0001276HP:0011444Decorticate rigidity2BTD CL E G H68679241ORPHA05981122609019
HP:0001276HP:0007076Extrapyramidal muscular rigidity2BTD CL E G H68679241ORPHA05981122609019
HP:0001276HP:0031866Clasp-knife sign2BTD CL E G H68679241ORPHA05981122609019
HP:0001276HP:0002061Lower limb spasticity2BTD CL E G H68679241ORPHA05981122609019
HP:0001276HP:0002179Opisthotonus2BTD CL E G H68679241ORPHA05981122609019
HP:0001276HP:0002191Progressive spasticity2BTD CL E G H68679241ORPHA05981122609019
HP:0001276HP:0001264Spastic diplegia2BTD CL E G H68679241ORPHA05981122609019
HP:0001276HP:0002464Spastic dysarthria2BTD CL E G H68679241ORPHA05981122609019
HP:0001276HP:0002064Spastic gait2BTD CL E G H68679241ORPHA05981122609019
HP:0001276HP:0011099Spastic hemiparesis2BTD CL E G H68679241ORPHA05981122609019
HP:0001276HP:0001285Spastic tetraparesis2BTD CL E G H68679241ORPHA05981122609019
HP:0001276HP:0002510Spastic tetraplegia2BTD CL E G H68679241ORPHA05981122609019
HP:0001276HP:0002501Spasticity of pharyngeal muscles2BTD CL E G H68679241ORPHA05981122609019
HP:0001276HP:0006986Upper limb spasticity2BTD CL E G H68679241ORPHA05981122609019
HP:0001276HP:0002491Spasticity of facial muscles2DHCR7 CL E G H1717818ORPHA07792860602858
HP:0001276HP:0200049Upper limb hypertonia2DHCR7 CL E G H1717818ORPHA07792860602858
HP:0001276HP:0006895Lower limb hypertonia2DHCR7 CL E G H1717818ORPHA07792860602858
HP:0001276HP:0002396Cogwheel rigidity2DHCR7 CL E G H1717818ORPHA07792860602858
HP:0001276HP:0025013Decerebrate rigidity2DHCR7 CL E G H1717818ORPHA07792860602858
HP:0001276HP:0011444Decorticate rigidity2DHCR7 CL E G H1717818ORPHA07792860602858
HP:0001276HP:0007076Extrapyramidal muscular rigidity2DHCR7 CL E G H1717818ORPHA07792860602858
HP:0001276HP:0031866Clasp-knife sign2DHCR7 CL E G H1717818ORPHA07792860602858
HP:0001276HP:0002061Lower limb spasticity2DHCR7 CL E G H1717818ORPHA07792860602858
HP:0001276HP:0002179Opisthotonus2DHCR7 CL E G H1717818ORPHA07792860602858
HP:0001276HP:0002191Progressive spasticity2DHCR7 CL E G H1717818ORPHA07792860602858
HP:0001276HP:0001264Spastic diplegia2DHCR7 CL E G H1717818ORPHA07792860602858
HP:0001276HP:0002464Spastic dysarthria2DHCR7 CL E G H1717818ORPHA07792860602858
HP:0001276HP:0002064Spastic gait2DHCR7 CL E G H1717818ORPHA07792860602858
HP:0001276HP:0011099Spastic hemiparesis2DHCR7 CL E G H1717818ORPHA07792860602858
HP:0001276HP:0001285Spastic tetraparesis2DHCR7 CL E G H1717818ORPHA07792860602858
HP:0001276HP:0002510Spastic tetraplegia2DHCR7 CL E G H1717818ORPHA07792860602858
HP:0001276HP:0002501Spasticity of pharyngeal muscles2DHCR7 CL E G H1717818ORPHA07792860602858
HP:0001276HP:0006986Upper limb spasticity2DHCR7 CL E G H1717818ORPHA07792860602858
HP:0001276HP:0002491Spasticity of facial muscles2DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA02122910605185
HP:0001276HP:0200049Upper limb hypertonia2DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA02122910605185
HP:0001276HP:0006895Lower limb hypertonia2DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA02122910605185
HP:0001276HP:0002396Cogwheel rigidity2DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA02122910605185
HP:0001276HP:0025013Decerebrate rigidity2DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA02122910605185
HP:0001276HP:0011444Decorticate rigidity2DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA02122910605185
HP:0001276HP:0007076Extrapyramidal muscular rigidity2DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA02122910605185
HP:0001276HP:0031866Clasp-knife sign2DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA02122910605185
HP:0001276HP:0002061Lower limb spasticity2DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA02122910605185
HP:0001276HP:0002179Opisthotonus2DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA02122910605185
HP:0001276HP:0002191Progressive spasticity2DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA02122910605185
HP:0001276HP:0001264Spastic diplegia2DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA02122910605185
HP:0001276HP:0002464Spastic dysarthria2DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA02122910605185
HP:0001276HP:0002064Spastic gait2DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA02122910605185
HP:0001276HP:0011099Spastic hemiparesis2DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA02122910605185
HP:0001276HP:0001285Spastic tetraparesis2DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA02122910605185
HP:0001276HP:0002510Spastic tetraplegia2DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA02122910605185
HP:0001276HP:0002501Spasticity of pharyngeal muscles2DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA02122910605185
HP:0001276HP:0006986Upper limb spasticity2DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA02122910605185
HP:0001276HP:0002491Spasticity of facial muscles2DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA0108019189614194
HP:0001276HP:0200049Upper limb hypertonia2DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA0108019189614194
HP:0001276HP:0006895Lower limb hypertonia2DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA0108019189614194
HP:0001276HP:0002396Cogwheel rigidity2DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA0108019189614194
HP:0001276HP:0025013Decerebrate rigidity2DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA0108019189614194
HP:0001276HP:0011444Decorticate rigidity2DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA0108019189614194
HP:0001276HP:0007076Extrapyramidal muscular rigidity2DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA0108019189614194
HP:0001276HP:0031866Clasp-knife sign2DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA0108019189614194
HP:0001276HP:0002061Lower limb spasticity2DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA0108019189614194
HP:0001276HP:0002179Opisthotonus2DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA0108019189614194
HP:0001276HP:0002191Progressive spasticity2DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA0108019189614194
HP:0001276HP:0001264Spastic diplegia2DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA0108019189614194
HP:0001276HP:0002464Spastic dysarthria2DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA0108019189614194
HP:0001276HP:0002064Spastic gait2DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA0108019189614194
HP:0001276HP:0011099Spastic hemiparesis2DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA0108019189614194
HP:0001276HP:0001285Spastic tetraparesis2DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA0108019189614194
HP:0001276HP:0002510Spastic tetraplegia2DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA0108019189614194
HP:0001276HP:0002501Spasticity of pharyngeal muscles2DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA0108019189614194
HP:0001276HP:0006986Upper limb spasticity2DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA0108019189614194
HP:0001276HP:0002491Spasticity of facial muscles2EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA021828526614789
HP:0001276HP:0200049Upper limb hypertonia2EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA021828526614789
HP:0001276HP:0006895Lower limb hypertonia2EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA021828526614789
HP:0001276HP:0002396Cogwheel rigidity2EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA021828526614789
HP:0001276HP:0025013Decerebrate rigidity2EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA021828526614789
HP:0001276HP:0011444Decorticate rigidity2EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA021828526614789
HP:0001276HP:0007076Extrapyramidal muscular rigidity2EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA021828526614789
HP:0001276HP:0031866Clasp-knife sign2EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA021828526614789
HP:0001276HP:0002061Lower limb spasticity2EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA021828526614789
HP:0001276HP:0002179Opisthotonus2EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA021828526614789
HP:0001276HP:0002191Progressive spasticity2EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA021828526614789
HP:0001276HP:0001264Spastic diplegia2EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA021828526614789
HP:0001276HP:0002464Spastic dysarthria2EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA021828526614789
HP:0001276HP:0002064Spastic gait2EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA021828526614789
HP:0001276HP:0011099Spastic hemiparesis2EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA021828526614789
HP:0001276HP:0001285Spastic tetraparesis2EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA021828526614789
HP:0001276HP:0002510Spastic tetraplegia2EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA021828526614789
HP:0001276HP:0002501Spasticity of pharyngeal muscles2EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA021828526614789
HP:0001276HP:0006986Upper limb spasticity2EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA021828526614789
HP:0001276HP:0002491Spasticity of facial muscles2ERF CL E G H20773267ORPHA01783444611888
HP:0001276HP:0200049Upper limb hypertonia2ERF CL E G H20773267ORPHA01783444611888
HP:0001276HP:0006895Lower limb hypertonia2ERF CL E G H20773267ORPHA01783444611888
HP:0001276HP:0002396Cogwheel rigidity2ERF CL E G H20773267ORPHA01783444611888
HP:0001276HP:0025013Decerebrate rigidity2ERF CL E G H20773267ORPHA01783444611888
HP:0001276HP:0011444Decorticate rigidity2ERF CL E G H20773267ORPHA01783444611888
HP:0001276HP:0007076Extrapyramidal muscular rigidity2ERF CL E G H20773267ORPHA01783444611888
HP:0001276HP:0031866Clasp-knife sign2ERF CL E G H20773267ORPHA01783444611888
HP:0001276HP:0002061Lower limb spasticity2ERF CL E G H20773267ORPHA01783444611888
HP:0001276HP:0002179Opisthotonus2ERF CL E G H20773267ORPHA01783444611888
HP:0001276HP:0002191Progressive spasticity2ERF CL E G H20773267ORPHA01783444611888
HP:0001276HP:0001264Spastic diplegia2ERF CL E G H20773267ORPHA01783444611888
HP:0001276HP:0002464Spastic dysarthria2ERF CL E G H20773267ORPHA01783444611888
HP:0001276HP:0002064Spastic gait2ERF CL E G H20773267ORPHA01783444611888
HP:0001276HP:0011099Spastic hemiparesis2ERF CL E G H20773267ORPHA01783444611888
HP:0001276HP:0001285Spastic tetraparesis2ERF CL E G H20773267ORPHA01783444611888
HP:0001276HP:0002510Spastic tetraplegia2ERF CL E G H20773267ORPHA01783444611888
HP:0001276HP:0002501Spasticity of pharyngeal muscles2ERF CL E G H20773267ORPHA01783444611888
HP:0001276HP:0006986Upper limb spasticity2ERF CL E G H20773267ORPHA01783444611888
HP:0001276HP:0002491Spasticity of facial muscles2HUWE1 CL E G H1007585328ORPHA0128530892300697
HP:0001276HP:0200049Upper limb hypertonia2HUWE1 CL E G H1007585328ORPHA0128530892300697
HP:0001276HP:0006895Lower limb hypertonia2HUWE1 CL E G H1007585328ORPHA0128530892300697
HP:0001276HP:0002396Cogwheel rigidity2HUWE1 CL E G H1007585328ORPHA0128530892300697
HP:0001276HP:0025013Decerebrate rigidity2HUWE1 CL E G H1007585328ORPHA0128530892300697
HP:0001276HP:0011444Decorticate rigidity2HUWE1 CL E G H1007585328ORPHA0128530892300697
HP:0001276HP:0007076Extrapyramidal muscular rigidity2HUWE1 CL E G H1007585328ORPHA0128530892300697
HP:0001276HP:0031866Clasp-knife sign2HUWE1 CL E G H1007585328ORPHA0128530892300697
HP:0001276HP:0002061Lower limb spasticity2HUWE1 CL E G H1007585328ORPHA0128530892300697
HP:0001276HP:0002179Opisthotonus2HUWE1 CL E G H1007585328ORPHA0128530892300697
HP:0001276HP:0002191Progressive spasticity2HUWE1 CL E G H1007585328ORPHA0128530892300697
HP:0001276HP:0001264Spastic diplegia2HUWE1 CL E G H1007585328ORPHA0128530892300697
HP:0001276HP:0002464Spastic dysarthria2HUWE1 CL E G H1007585328ORPHA0128530892300697
HP:0001276HP:0002064Spastic gait2HUWE1 CL E G H1007585328ORPHA0128530892300697
HP:0001276HP:0011099Spastic hemiparesis2HUWE1 CL E G H1007585328ORPHA0128530892300697
HP:0001276HP:0001285Spastic tetraparesis2HUWE1 CL E G H1007585328ORPHA0128530892300697
HP:0001276HP:0002510Spastic tetraplegia2HUWE1 CL E G H1007585328ORPHA0128530892300697
HP:0001276HP:0002501Spasticity of pharyngeal muscles2HUWE1 CL E G H1007585328ORPHA0128530892300697
HP:0001276HP:0006986Upper limb spasticity2HUWE1 CL E G H1007585328ORPHA0128530892300697
HP:0001276HP:0002491Spasticity of facial muscles2KCNA1 CL E G H373637612ORPHA05756218176260
HP:0001276HP:0200049Upper limb hypertonia2KCNA1 CL E G H373637612ORPHA05756218176260
HP:0001276HP:0006895Lower limb hypertonia2KCNA1 CL E G H373637612ORPHA05756218176260
HP:0001276HP:0002396Cogwheel rigidity2KCNA1 CL E G H373637612ORPHA05756218176260
HP:0001276HP:0025013Decerebrate rigidity2KCNA1 CL E G H373637612ORPHA05756218176260
HP:0001276HP:0011444Decorticate rigidity2KCNA1 CL E G H373637612ORPHA05756218176260
HP:0001276HP:0007076Extrapyramidal muscular rigidity2KCNA1 CL E G H373637612ORPHA05756218176260
HP:0001276HP:0031866Clasp-knife sign2KCNA1 CL E G H373637612ORPHA05756218176260
HP:0001276HP:0002061Lower limb spasticity2KCNA1 CL E G H373637612ORPHA05756218176260
HP:0001276HP:0002179Opisthotonus2KCNA1 CL E G H373637612ORPHA05756218176260
HP:0001276HP:0002191Progressive spasticity2KCNA1 CL E G H373637612ORPHA05756218176260
HP:0001276HP:0001264Spastic diplegia2KCNA1 CL E G H373637612ORPHA05756218176260
HP:0001276HP:0002464Spastic dysarthria2KCNA1 CL E G H373637612ORPHA05756218176260
HP:0001276HP:0002064Spastic gait2KCNA1 CL E G H373637612ORPHA05756218176260
HP:0001276HP:0011099Spastic hemiparesis2KCNA1 CL E G H373637612ORPHA05756218176260
HP:0001276HP:0001285Spastic tetraparesis2KCNA1 CL E G H373637612ORPHA05756218176260
HP:0001276HP:0002510Spastic tetraplegia2KCNA1 CL E G H373637612ORPHA05756218176260
HP:0001276HP:0002501Spasticity of pharyngeal muscles2KCNA1 CL E G H373637612ORPHA05756218176260
HP:0001276HP:0006986Upper limb spasticity2KCNA1 CL E G H373637612ORPHA05756218176260
HP:0001276HP:0002491Spasticity of facial muscles2LAGE3 CL E G H82702065ORPHA027026058300060
HP:0001276HP:0200049Upper limb hypertonia2LAGE3 CL E G H82702065ORPHA027026058300060
HP:0001276HP:0006895Lower limb hypertonia2LAGE3 CL E G H82702065ORPHA027026058300060
HP:0001276HP:0002396Cogwheel rigidity2LAGE3 CL E G H82702065ORPHA027026058300060
HP:0001276HP:0025013Decerebrate rigidity2LAGE3 CL E G H82702065ORPHA027026058300060
HP:0001276HP:0011444Decorticate rigidity2LAGE3 CL E G H82702065ORPHA027026058300060
HP:0001276HP:0007076Extrapyramidal muscular rigidity2LAGE3 CL E G H82702065ORPHA027026058300060
HP:0001276HP:0031866Clasp-knife sign2LAGE3 CL E G H82702065ORPHA027026058300060
HP:0001276HP:0002061Lower limb spasticity2LAGE3 CL E G H82702065ORPHA027026058300060
HP:0001276HP:0002179Opisthotonus2LAGE3 CL E G H82702065ORPHA027026058300060
HP:0001276HP:0002191Progressive spasticity2LAGE3 CL E G H82702065ORPHA027026058300060
HP:0001276HP:0001264Spastic diplegia2LAGE3 CL E G H82702065ORPHA027026058300060
HP:0001276HP:0002464Spastic dysarthria2LAGE3 CL E G H82702065ORPHA027026058300060
HP:0001276HP:0002064Spastic gait2LAGE3 CL E G H82702065ORPHA027026058300060
HP:0001276HP:0011099Spastic hemiparesis2LAGE3 CL E G H82702065ORPHA027026058300060
HP:0001276HP:0001285Spastic tetraparesis2LAGE3 CL E G H82702065ORPHA027026058300060
HP:0001276HP:0002510Spastic tetraplegia2LAGE3 CL E G H82702065ORPHA027026058300060
HP:0001276HP:0002501Spasticity of pharyngeal muscles2LAGE3 CL E G H82702065ORPHA027026058300060
HP:0001276HP:0006986Upper limb spasticity2LAGE3 CL E G H82702065ORPHA027026058300060
HP:0001276HP:0002491Spasticity of facial muscles2LYST CL E G H1130352723ORPHA025751968606897
HP:0001276HP:0200049Upper limb hypertonia2LYST CL E G H1130352723ORPHA025751968606897
HP:0001276HP:0006895Lower limb hypertonia2LYST CL E G H1130352723ORPHA025751968606897
HP:0001276HP:0002396Cogwheel rigidity2LYST CL E G H1130352723ORPHA025751968606897
HP:0001276HP:0025013Decerebrate rigidity2LYST CL E G H1130352723ORPHA025751968606897
HP:0001276HP:0011444Decorticate rigidity2LYST CL E G H1130352723ORPHA025751968606897
HP:0001276HP:0007076Extrapyramidal muscular rigidity2LYST CL E G H1130352723ORPHA025751968606897
HP:0001276HP:0031866Clasp-knife sign2LYST CL E G H1130352723ORPHA025751968606897
HP:0001276HP:0002061Lower limb spasticity2LYST CL E G H1130352723ORPHA025751968606897
HP:0001276HP:0002179Opisthotonus2LYST CL E G H1130352723ORPHA025751968606897
HP:0001276HP:0002191Progressive spasticity2LYST CL E G H1130352723ORPHA025751968606897
HP:0001276HP:0001264Spastic diplegia2LYST CL E G H1130352723ORPHA025751968606897
HP:0001276HP:0002464Spastic dysarthria2LYST CL E G H1130352723ORPHA025751968606897
HP:0001276HP:0002064Spastic gait2LYST CL E G H1130352723ORPHA025751968606897
HP:0001276HP:0011099Spastic hemiparesis2LYST CL E G H1130352723ORPHA025751968606897
HP:0001276HP:0001285Spastic tetraparesis2LYST CL E G H1130352723ORPHA025751968606897
HP:0001276HP:0002510Spastic tetraplegia2LYST CL E G H1130352723ORPHA025751968606897
HP:0001276HP:0002501Spasticity of pharyngeal muscles2LYST CL E G H1130352723ORPHA025751968606897
HP:0001276HP:0006986Upper limb spasticity2LYST CL E G H1130352723ORPHA025751968606897
HP:0001276HP:0002491Spasticity of facial muscles2MORC2 CL E G H22880616688Charcot-Marie-Tooth disease, axonal, type 2z616688C4225243OMIM072623573616661
HP:0001276HP:0200049Upper limb hypertonia2MORC2 CL E G H22880616688Charcot-Marie-Tooth disease, axonal, type 2z616688C4225243OMIM072623573616661
HP:0001276HP:0006895Lower limb hypertonia2MORC2 CL E G H22880616688Charcot-Marie-Tooth disease, axonal, type 2z616688C4225243OMIM072623573616661
HP:0001276HP:0002396Cogwheel rigidity2MORC2 CL E G H22880616688Charcot-Marie-Tooth disease, axonal, type 2z616688C4225243OMIM072623573616661
HP:0001276HP:0025013Decerebrate rigidity2MORC2 CL E G H22880616688Charcot-Marie-Tooth disease, axonal, type 2z616688C4225243OMIM072623573616661
HP:0001276HP:0011444Decorticate rigidity2MORC2 CL E G H22880616688Charcot-Marie-Tooth disease, axonal, type 2z616688C4225243OMIM072623573616661
HP:0001276HP:0007076Extrapyramidal muscular rigidity2MORC2 CL E G H22880616688Charcot-Marie-Tooth disease, axonal, type 2z616688C4225243OMIM072623573616661
HP:0001276HP:0031866Clasp-knife sign2MORC2 CL E G H22880616688Charcot-Marie-Tooth disease, axonal, type 2z616688C4225243OMIM072623573616661
HP:0001276HP:0002061Lower limb spasticity2MORC2 CL E G H22880616688Charcot-Marie-Tooth disease, axonal, type 2z616688C4225243OMIM072623573616661
HP:0001276HP:0002179Opisthotonus2MORC2 CL E G H22880616688Charcot-Marie-Tooth disease, axonal, type 2z616688C4225243OMIM072623573616661
HP:0001276HP:0002191Progressive spasticity2MORC2 CL E G H22880616688Charcot-Marie-Tooth disease, axonal, type 2z616688C4225243OMIM072623573616661
HP:0001276HP:0001264Spastic diplegia2MORC2 CL E G H22880616688Charcot-Marie-Tooth disease, axonal, type 2z616688C4225243OMIM072623573616661
HP:0001276HP:0002464Spastic dysarthria2MORC2 CL E G H22880616688Charcot-Marie-Tooth disease, axonal, type 2z616688C4225243OMIM072623573616661
HP:0001276HP:0002064Spastic gait2MORC2 CL E G H22880616688Charcot-Marie-Tooth disease, axonal, type 2z616688C4225243OMIM072623573616661
HP:0001276HP:0011099Spastic hemiparesis2MORC2 CL E G H22880616688Charcot-Marie-Tooth disease, axonal, type 2z616688C4225243OMIM072623573616661
HP:0001276HP:0001285Spastic tetraparesis2MORC2 CL E G H22880616688Charcot-Marie-Tooth disease, axonal, type 2z616688C4225243OMIM072623573616661
HP:0001276HP:0002510Spastic tetraplegia2MORC2 CL E G H22880616688Charcot-Marie-Tooth disease, axonal, type 2z616688C4225243OMIM072623573616661
HP:0001276HP:0002501Spasticity of pharyngeal muscles2MORC2 CL E G H22880616688Charcot-Marie-Tooth disease, axonal, type 2z616688C4225243OMIM072623573616661
HP:0001276HP:0006986Upper limb spasticity2MORC2 CL E G H22880616688Charcot-Marie-Tooth disease, axonal, type 2z616688C4225243OMIM072623573616661
HP:0001276HP:0002491Spasticity of facial muscles2MPDU1 CL E G H9526609180Congenital disorder of glycosylation type 1F609180C1836669OMIM01257207604041
HP:0001276HP:0200049Upper limb hypertonia2MPDU1 CL E G H9526609180Congenital disorder of glycosylation type 1F609180C1836669OMIM01257207604041
HP:0001276HP:0006895Lower limb hypertonia2MPDU1 CL E G H9526609180Congenital disorder of glycosylation type 1F609180C1836669OMIM01257207604041
HP:0001276HP:0002396Cogwheel rigidity2MPDU1 CL E G H9526609180Congenital disorder of glycosylation type 1F609180C1836669OMIM01257207604041
HP:0001276HP:0025013Decerebrate rigidity2MPDU1 CL E G H9526609180Congenital disorder of glycosylation type 1F609180C1836669OMIM01257207604041
HP:0001276HP:0011444Decorticate rigidity2MPDU1 CL E G H9526609180Congenital disorder of glycosylation type 1F609180C1836669OMIM01257207604041
HP:0001276HP:0007076Extrapyramidal muscular rigidity2MPDU1 CL E G H9526609180Congenital disorder of glycosylation type 1F609180C1836669OMIM01257207604041
HP:0001276HP:0031866Clasp-knife sign2MPDU1 CL E G H9526609180Congenital disorder of glycosylation type 1F609180C1836669OMIM01257207604041
HP:0001276HP:0002061Lower limb spasticity2MPDU1 CL E G H9526609180Congenital disorder of glycosylation type 1F609180C1836669OMIM01257207604041
HP:0001276HP:0002179Opisthotonus2MPDU1 CL E G H9526609180Congenital disorder of glycosylation type 1F609180C1836669OMIM01257207604041
HP:0001276HP:0002191Progressive spasticity2MPDU1 CL E G H9526609180Congenital disorder of glycosylation type 1F609180C1836669OMIM01257207604041
HP:0001276HP:0001264Spastic diplegia2MPDU1 CL E G H9526609180Congenital disorder of glycosylation type 1F609180C1836669OMIM01257207604041
HP:0001276HP:0002464Spastic dysarthria2MPDU1 CL E G H9526609180Congenital disorder of glycosylation type 1F609180C1836669OMIM01257207604041
HP:0001276HP:0002064Spastic gait2MPDU1 CL E G H9526609180Congenital disorder of glycosylation type 1F609180C1836669OMIM01257207604041
HP:0001276HP:0011099Spastic hemiparesis2MPDU1 CL E G H9526609180Congenital disorder of glycosylation type 1F609180C1836669OMIM01257207604041
HP:0001276HP:0001285Spastic tetraparesis2MPDU1 CL E G H9526609180Congenital disorder of glycosylation type 1F609180C1836669OMIM01257207604041
HP:0001276HP:0002510Spastic tetraplegia2MPDU1 CL E G H9526609180Congenital disorder of glycosylation type 1F609180C1836669OMIM01257207604041
HP:0001276HP:0002501Spasticity of pharyngeal muscles2MPDU1 CL E G H9526609180Congenital disorder of glycosylation type 1F609180C1836669OMIM01257207604041
HP:0001276HP:0006986Upper limb spasticity2MPDU1 CL E G H9526609180Congenital disorder of glycosylation type 1F609180C1836669OMIM01257207604041
HP:0001276HP:0002491Spasticity of facial muscles2NAA10 CL E G H8260276432ORPHA040118704300013
HP:0001276HP:0200049Upper limb hypertonia2NAA10 CL E G H8260276432ORPHA040118704300013
HP:0001276HP:0006895Lower limb hypertonia2NAA10 CL E G H8260276432ORPHA040118704300013
HP:0001276HP:0002396Cogwheel rigidity2NAA10 CL E G H8260276432ORPHA040118704300013
HP:0001276HP:0025013Decerebrate rigidity2NAA10 CL E G H8260276432ORPHA040118704300013
HP:0001276HP:0011444Decorticate rigidity2NAA10 CL E G H8260276432ORPHA040118704300013
HP:0001276HP:0007076Extrapyramidal muscular rigidity2NAA10 CL E G H8260276432ORPHA040118704300013
HP:0001276HP:0031866Clasp-knife sign2NAA10 CL E G H8260276432ORPHA040118704300013
HP:0001276HP:0002061Lower limb spasticity2NAA10 CL E G H8260276432ORPHA040118704300013
HP:0001276HP:0002179Opisthotonus2NAA10 CL E G H8260276432ORPHA040118704300013
HP:0001276HP:0002191Progressive spasticity2NAA10 CL E G H8260276432ORPHA040118704300013
HP:0001276HP:0001264Spastic diplegia2NAA10 CL E G H8260276432ORPHA040118704300013
HP:0001276HP:0002464Spastic dysarthria2NAA10 CL E G H8260276432ORPHA040118704300013
HP:0001276HP:0002064Spastic gait2NAA10 CL E G H8260276432ORPHA040118704300013
HP:0001276HP:0011099Spastic hemiparesis2NAA10 CL E G H8260276432ORPHA040118704300013
HP:0001276HP:0001285Spastic tetraparesis2NAA10 CL E G H8260276432ORPHA040118704300013
HP:0001276HP:0002510Spastic tetraplegia2NAA10 CL E G H8260276432ORPHA040118704300013
HP:0001276HP:0002501Spasticity of pharyngeal muscles2NAA10 CL E G H8260276432ORPHA040118704300013
HP:0001276HP:0006986Upper limb spasticity2NAA10 CL E G H8260276432ORPHA040118704300013
HP:0001276HP:0002491Spasticity of facial muscles2NDE1 CL E G H54820614019Lissencephaly 4614019C3151461OMIM0162317619609449
HP:0001276HP:0200049Upper limb hypertonia2NDE1 CL E G H54820614019Lissencephaly 4614019C3151461OMIM0162317619609449
HP:0001276HP:0006895Lower limb hypertonia2NDE1 CL E G H54820614019Lissencephaly 4614019C3151461OMIM0162317619609449
HP:0001276HP:0002396Cogwheel rigidity2NDE1 CL E G H54820614019Lissencephaly 4614019C3151461OMIM0162317619609449
HP:0001276HP:0025013Decerebrate rigidity2NDE1 CL E G H54820614019Lissencephaly 4614019C3151461OMIM0162317619609449
HP:0001276HP:0011444Decorticate rigidity2NDE1 CL E G H54820614019Lissencephaly 4614019C3151461OMIM0162317619609449
HP:0001276HP:0007076Extrapyramidal muscular rigidity2NDE1 CL E G H54820614019Lissencephaly 4614019C3151461OMIM0162317619609449
HP:0001276HP:0031866Clasp-knife sign2NDE1 CL E G H54820614019Lissencephaly 4614019C3151461OMIM0162317619609449
HP:0001276HP:0002061Lower limb spasticity2NDE1 CL E G H54820614019Lissencephaly 4614019C3151461OMIM0162317619609449
HP:0001276HP:0002179Opisthotonus2NDE1 CL E G H54820614019Lissencephaly 4614019C3151461OMIM0162317619609449
HP:0001276HP:0002191Progressive spasticity2NDE1 CL E G H54820614019Lissencephaly 4614019C3151461OMIM0162317619609449
HP:0001276HP:0001264Spastic diplegia2NDE1 CL E G H54820614019Lissencephaly 4614019C3151461OMIM0162317619609449
HP:0001276HP:0002464Spastic dysarthria2NDE1 CL E G H54820614019Lissencephaly 4614019C3151461OMIM0162317619609449
HP:0001276HP:0002064Spastic gait2NDE1 CL E G H54820614019Lissencephaly 4614019C3151461OMIM0162317619609449
HP:0001276HP:0011099Spastic hemiparesis2NDE1 CL E G H54820614019Lissencephaly 4614019C3151461OMIM0162317619609449
HP:0001276HP:0001285Spastic tetraparesis2NDE1 CL E G H54820614019Lissencephaly 4614019C3151461OMIM0162317619609449
HP:0001276HP:0002510Spastic tetraplegia2NDE1 CL E G H54820614019Lissencephaly 4614019C3151461OMIM0162317619609449
HP:0001276HP:0002501Spasticity of pharyngeal muscles2NDE1 CL E G H54820614019Lissencephaly 4614019C3151461OMIM0162317619609449
HP:0001276HP:0006986Upper limb spasticity2NDE1 CL E G H54820614019Lissencephaly 4614019C3151461OMIM0162317619609449
HP:0001276HP:0002491Spasticity of facial muscles2NDP CL E G H4693649ORPHA02997678300658
HP:0001276HP:0200049Upper limb hypertonia2NDP CL E G H4693649ORPHA02997678300658
HP:0001276HP:0006895Lower limb hypertonia2NDP CL E G H4693649ORPHA02997678300658
HP:0001276HP:0002396Cogwheel rigidity2NDP CL E G H4693649ORPHA02997678300658
HP:0001276HP:0025013Decerebrate rigidity2NDP CL E G H4693649ORPHA02997678300658
HP:0001276HP:0011444Decorticate rigidity2NDP CL E G H4693649ORPHA02997678300658
HP:0001276HP:0007076Extrapyramidal muscular rigidity2NDP CL E G H4693649ORPHA02997678300658
HP:0001276HP:0031866Clasp-knife sign2NDP CL E G H4693649ORPHA02997678300658
HP:0001276HP:0002061Lower limb spasticity2NDP CL E G H4693649ORPHA02997678300658
HP:0001276HP:0002179Opisthotonus2NDP CL E G H4693649ORPHA02997678300658
HP:0001276HP:0002191Progressive spasticity2NDP CL E G H4693649ORPHA02997678300658
HP:0001276HP:0001264Spastic diplegia2NDP CL E G H4693649ORPHA02997678300658
HP:0001276HP:0002464Spastic dysarthria2NDP CL E G H4693649ORPHA02997678300658
HP:0001276HP:0002064Spastic gait2NDP CL E G H4693649ORPHA02997678300658
HP:0001276HP:0011099Spastic hemiparesis2NDP CL E G H4693649ORPHA02997678300658
HP:0001276HP:0001285Spastic tetraparesis2NDP CL E G H4693649ORPHA02997678300658
HP:0001276HP:0002510Spastic tetraplegia2NDP CL E G H4693649ORPHA02997678300658
HP:0001276HP:0002501Spasticity of pharyngeal muscles2NDP CL E G H4693649ORPHA02997678300658
HP:0001276HP:0006986Upper limb spasticity2NDP CL E G H4693649ORPHA02997678300658
HP:0001276HP:0002491Spasticity of facial muscles2NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM06715911614154
HP:0001276HP:0200049Upper limb hypertonia2NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM06715911614154
HP:0001276HP:0006895Lower limb hypertonia2NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM06715911614154
HP:0001276HP:0002396Cogwheel rigidity2NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM06715911614154
HP:0001276HP:0025013Decerebrate rigidity2NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM06715911614154
HP:0001276HP:0011444Decorticate rigidity2NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM06715911614154
HP:0001276HP:0007076Extrapyramidal muscular rigidity2NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM06715911614154
HP:0001276HP:0031866Clasp-knife sign2NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM06715911614154
HP:0001276HP:0002061Lower limb spasticity2NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM06715911614154
HP:0001276HP:0002179Opisthotonus2NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM06715911614154
HP:0001276HP:0002191Progressive spasticity2NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM06715911614154
HP:0001276HP:0001264Spastic diplegia2NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM06715911614154
HP:0001276HP:0002464Spastic dysarthria2NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM06715911614154
HP:0001276HP:0002064Spastic gait2NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM06715911614154
HP:0001276HP:0011099Spastic hemiparesis2NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM06715911614154
HP:0001276HP:0001285Spastic tetraparesis2NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM06715911614154
HP:0001276HP:0002510Spastic tetraplegia2NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM06715911614154
HP:0001276HP:0002501Spasticity of pharyngeal muscles2NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM06715911614154
HP:0001276HP:0006986Upper limb spasticity2NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM06715911614154
HP:0001276HP:0002491Spasticity of facial muscles2NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA031877881190198
HP:0001276HP:0200049Upper limb hypertonia2NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA031877881190198
HP:0001276HP:0006895Lower limb hypertonia2NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA031877881190198
HP:0001276HP:0002396Cogwheel rigidity2NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA031877881190198
HP:0001276HP:0025013Decerebrate rigidity2NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA031877881190198
HP:0001276HP:0011444Decorticate rigidity2NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA031877881190198
HP:0001276HP:0007076Extrapyramidal muscular rigidity2NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA031877881190198
HP:0001276HP:0031866Clasp-knife sign2NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA031877881190198
HP:0001276HP:0002061Lower limb spasticity2NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA031877881190198
HP:0001276HP:0002179Opisthotonus2NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA031877881190198
HP:0001276HP:0002191Progressive spasticity2NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA031877881190198
HP:0001276HP:0001264Spastic diplegia2NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA031877881190198
HP:0001276HP:0002464Spastic dysarthria2NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA031877881190198
HP:0001276HP:0002064Spastic gait2NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA031877881190198
HP:0001276HP:0011099Spastic hemiparesis2NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA031877881190198
HP:0001276HP:0001285Spastic tetraparesis2NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA031877881190198
HP:0001276HP:0002510Spastic tetraplegia2NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA031877881190198
HP:0001276HP:0002501Spasticity of pharyngeal muscles2NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA031877881190198
HP:0001276HP:0006986Upper limb spasticity2NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA031877881190198
HP:0001276HP:0002491Spasticity of facial muscles2NPHP3 CL E G H27031267010Meckel syndrome type 7267010C2673885OMIM011067907608002
HP:0001276HP:0200049Upper limb hypertonia2NPHP3 CL E G H27031267010Meckel syndrome type 7267010C2673885OMIM011067907608002
HP:0001276HP:0006895Lower limb hypertonia2NPHP3 CL E G H27031267010Meckel syndrome type 7267010C2673885OMIM011067907608002
HP:0001276HP:0002396Cogwheel rigidity2NPHP3 CL E G H27031267010Meckel syndrome type 7267010C2673885OMIM011067907608002
HP:0001276HP:0025013Decerebrate rigidity2NPHP3 CL E G H27031267010Meckel syndrome type 7267010C2673885OMIM011067907608002
HP:0001276HP:0011444Decorticate rigidity2NPHP3 CL E G H27031267010Meckel syndrome type 7267010C2673885OMIM011067907608002
HP:0001276HP:0007076Extrapyramidal muscular rigidity2NPHP3 CL E G H27031267010Meckel syndrome type 7267010C2673885OMIM011067907608002
HP:0001276HP:0031866Clasp-knife sign2NPHP3 CL E G H27031267010Meckel syndrome type 7267010C2673885OMIM011067907608002
HP:0001276HP:0002061Lower limb spasticity2NPHP3 CL E G H27031267010Meckel syndrome type 7267010C2673885OMIM011067907608002
HP:0001276HP:0002179Opisthotonus2NPHP3 CL E G H27031267010Meckel syndrome type 7267010C2673885OMIM011067907608002
HP:0001276HP:0002191Progressive spasticity2NPHP3 CL E G H27031267010Meckel syndrome type 7267010C2673885OMIM011067907608002
HP:0001276HP:0001264Spastic diplegia2NPHP3 CL E G H27031267010Meckel syndrome type 7267010C2673885OMIM011067907608002
HP:0001276HP:0002464Spastic dysarthria2NPHP3 CL E G H27031267010Meckel syndrome type 7267010C2673885OMIM011067907608002
HP:0001276HP:0002064Spastic gait2NPHP3 CL E G H27031267010Meckel syndrome type 7267010C2673885OMIM011067907608002
HP:0001276HP:0011099Spastic hemiparesis2NPHP3 CL E G H27031267010Meckel syndrome type 7267010C2673885OMIM011067907608002
HP:0001276HP:0001285Spastic tetraparesis2NPHP3 CL E G H27031267010Meckel syndrome type 7267010C2673885OMIM011067907608002
HP:0001276HP:0002510Spastic tetraplegia2NPHP3 CL E G H27031267010Meckel syndrome type 7267010C2673885OMIM011067907608002
HP:0001276HP:0002501Spasticity of pharyngeal muscles2NPHP3 CL E G H27031267010Meckel syndrome type 7267010C2673885OMIM011067907608002
HP:0001276HP:0006986Upper limb spasticity2NPHP3 CL E G H27031267010Meckel syndrome type 7267010C2673885OMIM011067907608002
HP:0001276HP:0002491Spasticity of facial muscles2NUP107 CL E G H571222065ORPHA024229914607617
HP:0001276HP:0200049Upper limb hypertonia2NUP107 CL E G H571222065ORPHA024229914607617
HP:0001276HP:0006895Lower limb hypertonia2NUP107 CL E G H571222065ORPHA024229914607617
HP:0001276HP:0002396Cogwheel rigidity2NUP107 CL E G H571222065ORPHA024229914607617
HP:0001276HP:0025013Decerebrate rigidity2NUP107 CL E G H571222065ORPHA024229914607617
HP:0001276HP:0011444Decorticate rigidity2NUP107 CL E G H571222065ORPHA024229914607617
HP:0001276HP:0007076Extrapyramidal muscular rigidity2NUP107 CL E G H571222065ORPHA024229914607617
HP:0001276HP:0031866Clasp-knife sign2NUP107 CL E G H571222065ORPHA024229914607617
HP:0001276HP:0002061Lower limb spasticity2NUP107 CL E G H571222065ORPHA024229914607617
HP:0001276HP:0002179Opisthotonus2NUP107 CL E G H571222065ORPHA024229914607617
HP:0001276HP:0002191Progressive spasticity2NUP107 CL E G H571222065ORPHA024229914607617
HP:0001276HP:0001264Spastic diplegia2NUP107 CL E G H571222065ORPHA024229914607617
HP:0001276HP:0002464Spastic dysarthria2NUP107 CL E G H571222065ORPHA024229914607617
HP:0001276HP:0002064Spastic gait2NUP107 CL E G H571222065ORPHA024229914607617
HP:0001276HP:0011099Spastic hemiparesis2NUP107 CL E G H571222065ORPHA024229914607617
HP:0001276HP:0001285Spastic tetraparesis2NUP107 CL E G H571222065ORPHA024229914607617
HP:0001276HP:0002510Spastic tetraplegia2NUP107 CL E G H571222065ORPHA024229914607617
HP:0001276HP:0002501Spasticity of pharyngeal muscles2NUP107 CL E G H571222065ORPHA024229914607617
HP:0001276HP:0006986Upper limb spasticity2NUP107 CL E G H571222065ORPHA024229914607617
HP:0001276HP:0002491Spasticity of facial muscles2OSGEP CL E G H556442065ORPHA015218028610107
HP:0001276HP:0200049Upper limb hypertonia2OSGEP CL E G H556442065ORPHA015218028610107
HP:0001276HP:0006895Lower limb hypertonia2OSGEP CL E G H556442065ORPHA015218028610107
HP:0001276HP:0002396Cogwheel rigidity2OSGEP CL E G H556442065ORPHA015218028610107
HP:0001276HP:0025013Decerebrate rigidity2OSGEP CL E G H556442065ORPHA015218028610107
HP:0001276HP:0011444Decorticate rigidity2OSGEP CL E G H556442065ORPHA015218028610107
HP:0001276HP:0007076Extrapyramidal muscular rigidity2OSGEP CL E G H556442065ORPHA015218028610107
HP:0001276HP:0031866Clasp-knife sign2OSGEP CL E G H556442065ORPHA015218028610107
HP:0001276HP:0002061Lower limb spasticity2OSGEP CL E G H556442065ORPHA015218028610107
HP:0001276HP:0002179Opisthotonus2OSGEP CL E G H556442065ORPHA015218028610107
HP:0001276HP:0002191Progressive spasticity2OSGEP CL E G H556442065ORPHA015218028610107
HP:0001276HP:0001264Spastic diplegia2OSGEP CL E G H556442065ORPHA015218028610107
HP:0001276HP:0002464Spastic dysarthria2OSGEP CL E G H556442065ORPHA015218028610107
HP:0001276HP:0002064Spastic gait2OSGEP CL E G H556442065ORPHA015218028610107
HP:0001276HP:0011099Spastic hemiparesis2OSGEP CL E G H556442065ORPHA015218028610107
HP:0001276HP:0001285Spastic tetraparesis2OSGEP CL E G H556442065ORPHA015218028610107
HP:0001276HP:0002510Spastic tetraplegia2OSGEP CL E G H556442065ORPHA015218028610107
HP:0001276HP:0002501Spasticity of pharyngeal muscles2OSGEP CL E G H556442065ORPHA015218028610107
HP:0001276HP:0006986Upper limb spasticity2OSGEP CL E G H556442065ORPHA015218028610107
HP:0001276HP:0002491Spasticity of facial muscles2POLG CL E G H5428254892ORPHA023249179174763
HP:0001276HP:0200049Upper limb hypertonia2POLG CL E G H5428254892ORPHA023249179174763
HP:0001276HP:0006895Lower limb hypertonia2POLG CL E G H5428254892ORPHA023249179174763
HP:0001276HP:0002396Cogwheel rigidity2POLG CL E G H5428254892ORPHA023249179174763
HP:0001276HP:0025013Decerebrate rigidity2POLG CL E G H5428254892ORPHA023249179174763
HP:0001276HP:0011444Decorticate rigidity2POLG CL E G H5428254892ORPHA023249179174763
HP:0001276HP:0007076Extrapyramidal muscular rigidity2POLG CL E G H5428254892ORPHA023249179174763
HP:0001276HP:0031866Clasp-knife sign2POLG CL E G H5428254892ORPHA023249179174763
HP:0001276HP:0002061Lower limb spasticity2POLG CL E G H5428254892ORPHA023249179174763
HP:0001276HP:0002179Opisthotonus2POLG CL E G H5428254892ORPHA023249179174763
HP:0001276HP:0002191Progressive spasticity2POLG CL E G H5428254892ORPHA023249179174763
HP:0001276HP:0001264Spastic diplegia2POLG CL E G H5428254892ORPHA023249179174763
HP:0001276HP:0002464Spastic dysarthria2POLG CL E G H5428254892ORPHA023249179174763
HP:0001276HP:0002064Spastic gait2POLG CL E G H5428254892ORPHA023249179174763
HP:0001276HP:0011099Spastic hemiparesis2POLG CL E G H5428254892ORPHA023249179174763
HP:0001276HP:0001285Spastic tetraparesis2POLG CL E G H5428254892ORPHA023249179174763
HP:0001276HP:0002510Spastic tetraplegia2POLG CL E G H5428254892ORPHA023249179174763
HP:0001276HP:0002501Spasticity of pharyngeal muscles2POLG CL E G H5428254892ORPHA023249179174763
HP:0001276HP:0006986Upper limb spasticity2POLG CL E G H5428254892ORPHA023249179174763
HP:0001276HP:0002491Spasticity of facial muscles2POLG2 CL E G H11232254892ORPHA03579180604983
HP:0001276HP:0200049Upper limb hypertonia2POLG2 CL E G H11232254892ORPHA03579180604983
HP:0001276HP:0006895Lower limb hypertonia2POLG2 CL E G H11232254892ORPHA03579180604983
HP:0001276HP:0002396Cogwheel rigidity2POLG2 CL E G H11232254892ORPHA03579180604983
HP:0001276HP:0025013Decerebrate rigidity2POLG2 CL E G H11232254892ORPHA03579180604983
HP:0001276HP:0011444Decorticate rigidity2POLG2 CL E G H11232254892ORPHA03579180604983
HP:0001276HP:0007076Extrapyramidal muscular rigidity2POLG2 CL E G H11232254892ORPHA03579180604983
HP:0001276HP:0031866Clasp-knife sign2POLG2 CL E G H11232254892ORPHA03579180604983
HP:0001276HP:0002061Lower limb spasticity2POLG2 CL E G H11232254892ORPHA03579180604983
HP:0001276HP:0002179Opisthotonus2POLG2 CL E G H11232254892ORPHA03579180604983
HP:0001276HP:0002191Progressive spasticity2POLG2 CL E G H11232254892ORPHA03579180604983
HP:0001276HP:0001264Spastic diplegia2POLG2 CL E G H11232254892ORPHA03579180604983
HP:0001276HP:0002464Spastic dysarthria2POLG2 CL E G H11232254892ORPHA03579180604983
HP:0001276HP:0002064Spastic gait2POLG2 CL E G H11232254892ORPHA03579180604983
HP:0001276HP:0011099Spastic hemiparesis2POLG2 CL E G H11232254892ORPHA03579180604983
HP:0001276HP:0001285Spastic tetraparesis2POLG2 CL E G H11232254892ORPHA03579180604983
HP:0001276HP:0002510Spastic tetraplegia2POLG2 CL E G H11232254892ORPHA03579180604983
HP:0001276HP:0002501Spasticity of pharyngeal muscles2POLG2 CL E G H11232254892ORPHA03579180604983
HP:0001276HP:0006986Upper limb spasticity2POLG2 CL E G H11232254892ORPHA03579180604983
HP:0001276HP:0002491Spasticity of facial muscles2PSPH CL E G H572379350ORPHA01899577172480
HP:0001276HP:0200049Upper limb hypertonia2PSPH CL E G H572379350ORPHA01899577172480
HP:0001276HP:0006895Lower limb hypertonia2PSPH CL E G H572379350ORPHA01899577172480
HP:0001276HP:0002396Cogwheel rigidity2PSPH CL E G H572379350ORPHA01899577172480
HP:0001276HP:0025013Decerebrate rigidity2PSPH CL E G H572379350ORPHA01899577172480
HP:0001276HP:0011444Decorticate rigidity2PSPH CL E G H572379350ORPHA01899577172480
HP:0001276HP:0007076Extrapyramidal muscular rigidity2PSPH CL E G H572379350ORPHA01899577172480
HP:0001276HP:0031866Clasp-knife sign2PSPH CL E G H572379350ORPHA01899577172480
HP:0001276HP:0002061Lower limb spasticity2PSPH CL E G H572379350ORPHA01899577172480
HP:0001276HP:0002179Opisthotonus2PSPH CL E G H572379350ORPHA01899577172480
HP:0001276HP:0002191Progressive spasticity2PSPH CL E G H572379350ORPHA01899577172480
HP:0001276HP:0001264Spastic diplegia2PSPH CL E G H572379350ORPHA01899577172480
HP:0001276HP:0002464Spastic dysarthria2PSPH CL E G H572379350ORPHA01899577172480
HP:0001276HP:0002064Spastic gait2PSPH CL E G H572379350ORPHA01899577172480
HP:0001276HP:0011099Spastic hemiparesis2PSPH CL E G H572379350ORPHA01899577172480
HP:0001276HP:0001285Spastic tetraparesis2PSPH CL E G H572379350ORPHA01899577172480
HP:0001276HP:0002510Spastic tetraplegia2PSPH CL E G H572379350ORPHA01899577172480
HP:0001276HP:0002501Spasticity of pharyngeal muscles2PSPH CL E G H572379350ORPHA01899577172480
HP:0001276HP:0006986Upper limb spasticity2PSPH CL E G H572379350ORPHA01899577172480
HP:0001276HP:0002491Spasticity of facial muscles2RAB27A CL E G H587379477ORPHA02989766603868
HP:0001276HP:0200049Upper limb hypertonia2RAB27A CL E G H587379477ORPHA02989766603868
HP:0001276HP:0006895Lower limb hypertonia2RAB27A CL E G H587379477ORPHA02989766603868
HP:0001276HP:0002396Cogwheel rigidity2RAB27A CL E G H587379477ORPHA02989766603868
HP:0001276HP:0025013Decerebrate rigidity2RAB27A CL E G H587379477ORPHA02989766603868
HP:0001276HP:0011444Decorticate rigidity2RAB27A CL E G H587379477ORPHA02989766603868
HP:0001276HP:0007076Extrapyramidal muscular rigidity2RAB27A CL E G H587379477ORPHA02989766603868
HP:0001276HP:0031866Clasp-knife sign2RAB27A CL E G H587379477ORPHA02989766603868
HP:0001276HP:0002061Lower limb spasticity2RAB27A CL E G H587379477ORPHA02989766603868
HP:0001276HP:0002179Opisthotonus2RAB27A CL E G H587379477ORPHA02989766603868
HP:0001276HP:0002191Progressive spasticity2RAB27A CL E G H587379477ORPHA02989766603868
HP:0001276HP:0001264Spastic diplegia2RAB27A CL E G H587379477ORPHA02989766603868
HP:0001276HP:0002464Spastic dysarthria2RAB27A CL E G H587379477ORPHA02989766603868
HP:0001276HP:0002064Spastic gait2RAB27A CL E G H587379477ORPHA02989766603868
HP:0001276HP:0011099Spastic hemiparesis2RAB27A CL E G H587379477ORPHA02989766603868
HP:0001276HP:0001285Spastic tetraparesis2RAB27A CL E G H587379477ORPHA02989766603868
HP:0001276HP:0002510Spastic tetraplegia2RAB27A CL E G H587379477ORPHA02989766603868
HP:0001276HP:0002501Spasticity of pharyngeal muscles2RAB27A CL E G H587379477ORPHA02989766603868
HP:0001276HP:0006986Upper limb spasticity2RAB27A CL E G H587379477ORPHA02989766603868
HP:0001276HP:0002491Spasticity of facial muscles2RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA01865724147183
HP:0001276HP:0200049Upper limb hypertonia2RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA01865724147183
HP:0001276HP:0006895Lower limb hypertonia2RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA01865724147183
HP:0001276HP:0002396Cogwheel rigidity2RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA01865724147183
HP:0001276HP:0025013Decerebrate rigidity2RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA01865724147183
HP:0001276HP:0011444Decorticate rigidity2RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA01865724147183
HP:0001276HP:0007076Extrapyramidal muscular rigidity2RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA01865724147183
HP:0001276HP:0031866Clasp-knife sign2RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA01865724147183
HP:0001276HP:0002061Lower limb spasticity2RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA01865724147183
HP:0001276HP:0002179Opisthotonus2RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA01865724147183
HP:0001276HP:0002191Progressive spasticity2RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA01865724147183
HP:0001276HP:0001264Spastic diplegia2RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA01865724147183
HP:0001276HP:0002464Spastic dysarthria2RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA01865724147183
HP:0001276HP:0002064Spastic gait2RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA01865724147183
HP:0001276HP:0011099Spastic hemiparesis2RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA01865724147183
HP:0001276HP:0001285Spastic tetraparesis2RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA01865724147183
HP:0001276HP:0002510Spastic tetraplegia2RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA01865724147183
HP:0001276HP:0002501Spasticity of pharyngeal muscles2RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA01865724147183
HP:0001276HP:0006986Upper limb spasticity2RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA01865724147183
HP:0001276HP:0002491Spasticity of facial muscles2RRM2B CL E G H50484254892ORPHA035417296604712
HP:0001276HP:0200049Upper limb hypertonia2RRM2B CL E G H50484254892ORPHA035417296604712
HP:0001276HP:0006895Lower limb hypertonia2RRM2B CL E G H50484254892ORPHA035417296604712
HP:0001276HP:0002396Cogwheel rigidity2RRM2B CL E G H50484254892ORPHA035417296604712
HP:0001276HP:0025013Decerebrate rigidity2RRM2B CL E G H50484254892ORPHA035417296604712
HP:0001276HP:0011444Decorticate rigidity2RRM2B CL E G H50484254892ORPHA035417296604712
HP:0001276HP:0007076Extrapyramidal muscular rigidity2RRM2B CL E G H50484254892ORPHA035417296604712
HP:0001276HP:0031866Clasp-knife sign2RRM2B CL E G H50484254892ORPHA035417296604712
HP:0001276HP:0002061Lower limb spasticity2RRM2B CL E G H50484254892ORPHA035417296604712
HP:0001276HP:0002179Opisthotonus2RRM2B CL E G H50484254892ORPHA035417296604712
HP:0001276HP:0002191Progressive spasticity2RRM2B CL E G H50484254892ORPHA035417296604712
HP:0001276HP:0001264Spastic diplegia2RRM2B CL E G H50484254892ORPHA035417296604712
HP:0001276HP:0002464Spastic dysarthria2RRM2B CL E G H50484254892ORPHA035417296604712
HP:0001276HP:0002064Spastic gait2RRM2B CL E G H50484254892ORPHA035417296604712
HP:0001276HP:0011099Spastic hemiparesis2RRM2B CL E G H50484254892ORPHA035417296604712
HP:0001276HP:0001285Spastic tetraparesis2RRM2B CL E G H50484254892ORPHA035417296604712
HP:0001276HP:0002510Spastic tetraplegia2RRM2B CL E G H50484254892ORPHA035417296604712
HP:0001276HP:0002501Spasticity of pharyngeal muscles2RRM2B CL E G H50484254892ORPHA035417296604712
HP:0001276HP:0006986Upper limb spasticity2RRM2B CL E G H50484254892ORPHA035417296604712
HP:0001276HP:0002491Spasticity of facial muscles2SCN4A CL E G H6329682ORPHA0176510591603967
HP:0001276HP:0200049Upper limb hypertonia2SCN4A CL E G H6329682ORPHA0176510591603967
HP:0001276HP:0006895Lower limb hypertonia2SCN4A CL E G H6329682ORPHA0176510591603967
HP:0001276HP:0002396Cogwheel rigidity2SCN4A CL E G H6329682ORPHA0176510591603967
HP:0001276HP:0025013Decerebrate rigidity2SCN4A CL E G H6329682ORPHA0176510591603967
HP:0001276HP:0011444Decorticate rigidity2SCN4A CL E G H6329682ORPHA0176510591603967
HP:0001276HP:0007076Extrapyramidal muscular rigidity2SCN4A CL E G H6329682ORPHA0176510591603967
HP:0001276HP:0031866Clasp-knife sign2SCN4A CL E G H6329682ORPHA0176510591603967
HP:0001276HP:0002061Lower limb spasticity2SCN4A CL E G H6329682ORPHA0176510591603967
HP:0001276HP:0002179Opisthotonus2SCN4A CL E G H6329682ORPHA0176510591603967
HP:0001276HP:0002191Progressive spasticity2SCN4A CL E G H6329682ORPHA0176510591603967
HP:0001276HP:0001264Spastic diplegia2SCN4A CL E G H6329682ORPHA0176510591603967
HP:0001276HP:0002464Spastic dysarthria2SCN4A CL E G H6329682ORPHA0176510591603967
HP:0001276HP:0002064Spastic gait2SCN4A CL E G H6329682ORPHA0176510591603967
HP:0001276HP:0011099Spastic hemiparesis2SCN4A CL E G H6329682ORPHA0176510591603967
HP:0001276HP:0001285Spastic tetraparesis2SCN4A CL E G H6329682ORPHA0176510591603967
HP:0001276HP:0002510Spastic tetraplegia2SCN4A CL E G H6329682ORPHA0176510591603967
HP:0001276HP:0002501Spasticity of pharyngeal muscles2SCN4A CL E G H6329682ORPHA0176510591603967
HP:0001276HP:0006986Upper limb spasticity2SCN4A CL E G H6329682ORPHA0176510591603967
HP:0001276HP:0002491Spasticity of facial muscles2SLC25A4 CL E G H291254892ORPHA033310990103220
HP:0001276HP:0200049Upper limb hypertonia2SLC25A4 CL E G H291254892ORPHA033310990103220
HP:0001276HP:0006895Lower limb hypertonia2SLC25A4 CL E G H291254892ORPHA033310990103220
HP:0001276HP:0002396Cogwheel rigidity2SLC25A4 CL E G H291254892ORPHA033310990103220
HP:0001276HP:0025013Decerebrate rigidity2SLC25A4 CL E G H291254892ORPHA033310990103220
HP:0001276HP:0011444Decorticate rigidity2SLC25A4 CL E G H291254892ORPHA033310990103220
HP:0001276HP:0007076Extrapyramidal muscular rigidity2SLC25A4 CL E G H291254892ORPHA033310990103220
HP:0001276HP:0031866Clasp-knife sign2SLC25A4 CL E G H291254892ORPHA033310990103220
HP:0001276HP:0002061Lower limb spasticity2SLC25A4 CL E G H291254892ORPHA033310990103220
HP:0001276HP:0002179Opisthotonus2SLC25A4 CL E G H291254892ORPHA033310990103220
HP:0001276HP:0002191Progressive spasticity2SLC25A4 CL E G H291254892ORPHA033310990103220
HP:0001276HP:0001264Spastic diplegia2SLC25A4 CL E G H291254892ORPHA033310990103220
HP:0001276HP:0002464Spastic dysarthria2SLC25A4 CL E G H291254892ORPHA033310990103220
HP:0001276HP:0002064Spastic gait2SLC25A4 CL E G H291254892ORPHA033310990103220
HP:0001276HP:0011099Spastic hemiparesis2SLC25A4 CL E G H291254892ORPHA033310990103220
HP:0001276HP:0001285Spastic tetraparesis2SLC25A4 CL E G H291254892ORPHA033310990103220
HP:0001276HP:0002510Spastic tetraplegia2SLC25A4 CL E G H291254892ORPHA033310990103220
HP:0001276HP:0002501Spasticity of pharyngeal muscles2SLC25A4 CL E G H291254892ORPHA033310990103220
HP:0001276HP:0006986Upper limb spasticity2SLC25A4 CL E G H291254892ORPHA033310990103220
HP:0001276HP:0002491Spasticity of facial muscles2TBL1XR1 CL E G H79718602342Pierpont syndrome602342C1865644OMIM050229529608628
HP:0001276HP:0200049Upper limb hypertonia2TBL1XR1 CL E G H79718602342Pierpont syndrome602342C1865644OMIM050229529608628
HP:0001276HP:0006895Lower limb hypertonia2TBL1XR1 CL E G H79718602342Pierpont syndrome602342C1865644OMIM050229529608628
HP:0001276HP:0002396Cogwheel rigidity2TBL1XR1 CL E G H79718602342Pierpont syndrome602342C1865644OMIM050229529608628
HP:0001276HP:0025013Decerebrate rigidity2TBL1XR1 CL E G H79718602342Pierpont syndrome602342C1865644OMIM050229529608628
HP:0001276HP:0011444Decorticate rigidity2TBL1XR1 CL E G H79718602342Pierpont syndrome602342C1865644OMIM050229529608628
HP:0001276HP:0007076Extrapyramidal muscular rigidity2TBL1XR1 CL E G H79718602342Pierpont syndrome602342C1865644OMIM050229529608628
HP:0001276HP:0031866Clasp-knife sign2TBL1XR1 CL E G H79718602342Pierpont syndrome602342C1865644OMIM050229529608628
HP:0001276HP:0002061Lower limb spasticity2TBL1XR1 CL E G H79718602342Pierpont syndrome602342C1865644OMIM050229529608628
HP:0001276HP:0002179Opisthotonus2TBL1XR1 CL E G H79718602342Pierpont syndrome602342C1865644OMIM050229529608628
HP:0001276HP:0002191Progressive spasticity2TBL1XR1 CL E G H79718602342Pierpont syndrome602342C1865644OMIM050229529608628
HP:0001276HP:0001264Spastic diplegia2TBL1XR1 CL E G H79718602342Pierpont syndrome602342C1865644OMIM050229529608628
HP:0001276HP:0002464Spastic dysarthria2TBL1XR1 CL E G H79718602342Pierpont syndrome602342C1865644OMIM050229529608628
HP:0001276HP:0002064Spastic gait2TBL1XR1 CL E G H79718602342Pierpont syndrome602342C1865644OMIM050229529608628
HP:0001276HP:0011099Spastic hemiparesis2TBL1XR1 CL E G H79718602342Pierpont syndrome602342C1865644OMIM050229529608628
HP:0001276HP:0001285Spastic tetraparesis2TBL1XR1 CL E G H79718602342Pierpont syndrome602342C1865644OMIM050229529608628
HP:0001276HP:0002510Spastic tetraplegia2TBL1XR1 CL E G H79718602342Pierpont syndrome602342C1865644OMIM050229529608628
HP:0001276HP:0002501Spasticity of pharyngeal muscles2TBL1XR1 CL E G H79718602342Pierpont syndrome602342C1865644OMIM050229529608628
HP:0001276HP:0006986Upper limb spasticity2TBL1XR1 CL E G H79718602342Pierpont syndrome602342C1865644OMIM050229529608628
HP:0001276HP:0002491Spasticity of facial muscles2TP53 CL E G H71572807ORPHA0297711998191170
HP:0001276HP:0200049Upper limb hypertonia2TP53 CL E G H71572807ORPHA0297711998191170
HP:0001276HP:0006895Lower limb hypertonia2TP53 CL E G H71572807ORPHA0297711998191170
HP:0001276HP:0002396Cogwheel rigidity2TP53 CL E G H71572807ORPHA0297711998191170
HP:0001276HP:0025013Decerebrate rigidity2TP53 CL E G H71572807ORPHA0297711998191170
HP:0001276HP:0011444Decorticate rigidity2TP53 CL E G H71572807ORPHA0297711998191170
HP:0001276HP:0007076Extrapyramidal muscular rigidity2TP53 CL E G H71572807ORPHA0297711998191170
HP:0001276HP:0031866Clasp-knife sign2TP53 CL E G H71572807ORPHA0297711998191170
HP:0001276HP:0002061Lower limb spasticity2TP53 CL E G H71572807ORPHA0297711998191170
HP:0001276HP:0002179Opisthotonus2TP53 CL E G H71572807ORPHA0297711998191170
HP:0001276HP:0002191Progressive spasticity2TP53 CL E G H71572807ORPHA0297711998191170
HP:0001276HP:0001264Spastic diplegia2TP53 CL E G H71572807ORPHA0297711998191170
HP:0001276HP:0002464Spastic dysarthria2TP53 CL E G H71572807ORPHA0297711998191170
HP:0001276HP:0002064Spastic gait2TP53 CL E G H71572807ORPHA0297711998191170
HP:0001276HP:0011099Spastic hemiparesis2TP53 CL E G H71572807ORPHA0297711998191170
HP:0001276HP:0001285Spastic tetraparesis2TP53 CL E G H71572807ORPHA0297711998191170
HP:0001276HP:0002510Spastic tetraplegia2TP53 CL E G H71572807ORPHA0297711998191170
HP:0001276HP:0002501Spasticity of pharyngeal muscles2TP53 CL E G H71572807ORPHA0297711998191170
HP:0001276HP:0006986Upper limb spasticity2TP53 CL E G H71572807ORPHA0297711998191170
HP:0001276HP:0002491Spasticity of facial muscles2TP53RK CL E G H1128582065ORPHA07016197608679
HP:0001276HP:0200049Upper limb hypertonia2TP53RK CL E G H1128582065ORPHA07016197608679
HP:0001276HP:0006895Lower limb hypertonia2TP53RK CL E G H1128582065ORPHA07016197608679
HP:0001276HP:0002396Cogwheel rigidity2TP53RK CL E G H1128582065ORPHA07016197608679
HP:0001276HP:0025013Decerebrate rigidity2TP53RK CL E G H1128582065ORPHA07016197608679
HP:0001276HP:0011444Decorticate rigidity2TP53RK CL E G H1128582065ORPHA07016197608679
HP:0001276HP:0007076Extrapyramidal muscular rigidity2TP53RK CL E G H1128582065ORPHA07016197608679
HP:0001276HP:0031866Clasp-knife sign2TP53RK CL E G H1128582065ORPHA07016197608679
HP:0001276HP:0002061Lower limb spasticity2TP53RK CL E G H1128582065ORPHA07016197608679
HP:0001276HP:0002179Opisthotonus2TP53RK CL E G H1128582065ORPHA07016197608679
HP:0001276HP:0002191Progressive spasticity2TP53RK CL E G H1128582065ORPHA07016197608679
HP:0001276HP:0001264Spastic diplegia2TP53RK CL E G H1128582065ORPHA07016197608679
HP:0001276HP:0002464Spastic dysarthria2TP53RK CL E G H1128582065ORPHA07016197608679
HP:0001276HP:0002064Spastic gait2TP53RK CL E G H1128582065ORPHA07016197608679
HP:0001276HP:0011099Spastic hemiparesis2TP53RK CL E G H1128582065ORPHA07016197608679
HP:0001276HP:0001285Spastic tetraparesis2TP53RK CL E G H1128582065ORPHA07016197608679
HP:0001276HP:0002510Spastic tetraplegia2TP53RK CL E G H1128582065ORPHA07016197608679
HP:0001276HP:0002501Spasticity of pharyngeal muscles2TP53RK CL E G H1128582065ORPHA07016197608679
HP:0001276HP:0006986Upper limb spasticity2TP53RK CL E G H1128582065ORPHA07016197608679
HP:0001276HP:0002491Spasticity of facial muscles2TPRKB CL E G H510022065ORPHA04624259608680
HP:0001276HP:0200049Upper limb hypertonia2TPRKB CL E G H510022065ORPHA04624259608680
HP:0001276HP:0006895Lower limb hypertonia2TPRKB CL E G H510022065ORPHA04624259608680
HP:0001276HP:0002396Cogwheel rigidity2TPRKB CL E G H510022065ORPHA04624259608680
HP:0001276HP:0025013Decerebrate rigidity2TPRKB CL E G H510022065ORPHA04624259608680
HP:0001276HP:0011444Decorticate rigidity2TPRKB CL E G H510022065ORPHA04624259608680
HP:0001276HP:0007076Extrapyramidal muscular rigidity2TPRKB CL E G H510022065ORPHA04624259608680
HP:0001276HP:0031866Clasp-knife sign2TPRKB CL E G H510022065ORPHA04624259608680
HP:0001276HP:0002061Lower limb spasticity2TPRKB CL E G H510022065ORPHA04624259608680
HP:0001276HP:0002179Opisthotonus2TPRKB CL E G H510022065ORPHA04624259608680
HP:0001276HP:0002191Progressive spasticity2TPRKB CL E G H510022065ORPHA04624259608680
HP:0001276HP:0001264Spastic diplegia2TPRKB CL E G H510022065ORPHA04624259608680
HP:0001276HP:0002464Spastic dysarthria2TPRKB CL E G H510022065ORPHA04624259608680
HP:0001276HP:0002064Spastic gait2TPRKB CL E G H510022065ORPHA04624259608680
HP:0001276HP:0011099Spastic hemiparesis2TPRKB CL E G H510022065ORPHA04624259608680
HP:0001276HP:0001285Spastic tetraparesis2TPRKB CL E G H510022065ORPHA04624259608680
HP:0001276HP:0002510Spastic tetraplegia2TPRKB CL E G H510022065ORPHA04624259608680
HP:0001276HP:0002501Spasticity of pharyngeal muscles2TPRKB CL E G H510022065ORPHA04624259608680
HP:0001276HP:0006986Upper limb spasticity2TPRKB CL E G H510022065ORPHA04624259608680
HP:0001276HP:0002491Spasticity of facial muscles2TTPA CL E G H727496ORPHA038912404600415
HP:0001276HP:0200049Upper limb hypertonia2TTPA CL E G H727496ORPHA038912404600415
HP:0001276HP:0006895Lower limb hypertonia2TTPA CL E G H727496ORPHA038912404600415
HP:0001276HP:0002396Cogwheel rigidity2TTPA CL E G H727496ORPHA038912404600415
HP:0001276HP:0025013Decerebrate rigidity2TTPA CL E G H727496ORPHA038912404600415
HP:0001276HP:0011444Decorticate rigidity2TTPA CL E G H727496ORPHA038912404600415
HP:0001276HP:0007076Extrapyramidal muscular rigidity2TTPA CL E G H727496ORPHA038912404600415
HP:0001276HP:0031866Clasp-knife sign2TTPA CL E G H727496ORPHA038912404600415
HP:0001276HP:0002061Lower limb spasticity2TTPA CL E G H727496ORPHA038912404600415
HP:0001276HP:0002179Opisthotonus2TTPA CL E G H727496ORPHA038912404600415
HP:0001276HP:0002191Progressive spasticity2TTPA CL E G H727496ORPHA038912404600415
HP:0001276HP:0001264Spastic diplegia2TTPA CL E G H727496ORPHA038912404600415
HP:0001276HP:0002464Spastic dysarthria2TTPA CL E G H727496ORPHA038912404600415
HP:0001276HP:0002064Spastic gait2TTPA CL E G H727496ORPHA038912404600415
HP:0001276HP:0011099Spastic hemiparesis2TTPA CL E G H727496ORPHA038912404600415
HP:0001276HP:0001285Spastic tetraparesis2TTPA CL E G H727496ORPHA038912404600415
HP:0001276HP:0002510Spastic tetraplegia2TTPA CL E G H727496ORPHA038912404600415
HP:0001276HP:0002501Spasticity of pharyngeal muscles2TTPA CL E G H727496ORPHA038912404600415
HP:0001276HP:0006986Upper limb spasticity2TTPA CL E G H727496ORPHA038912404600415
HP:0001276HP:0002491Spasticity of facial muscles2TWNK CL E G H56652254892ORPHA04501160606075
HP:0001276HP:0200049Upper limb hypertonia2TWNK CL E G H56652254892ORPHA04501160606075
HP:0001276HP:0006895Lower limb hypertonia2TWNK CL E G H56652254892ORPHA04501160606075
HP:0001276HP:0002396Cogwheel rigidity2TWNK CL E G H56652254892ORPHA04501160606075
HP:0001276HP:0025013Decerebrate rigidity2TWNK CL E G H56652254892ORPHA04501160606075
HP:0001276HP:0011444Decorticate rigidity2TWNK CL E G H56652254892ORPHA04501160606075
HP:0001276HP:0007076Extrapyramidal muscular rigidity2TWNK CL E G H56652254892ORPHA04501160606075
HP:0001276HP:0031866Clasp-knife sign2TWNK CL E G H56652254892ORPHA04501160606075
HP:0001276HP:0002061Lower limb spasticity2TWNK CL E G H56652254892ORPHA04501160606075
HP:0001276HP:0002179Opisthotonus2TWNK CL E G H56652254892ORPHA04501160606075
HP:0001276HP:0002191Progressive spasticity2TWNK CL E G H56652254892ORPHA04501160606075
HP:0001276HP:0001264Spastic diplegia2TWNK CL E G H56652254892ORPHA04501160606075
HP:0001276HP:0002464Spastic dysarthria2TWNK CL E G H56652254892ORPHA04501160606075
HP:0001276HP:0002064Spastic gait2TWNK CL E G H56652254892ORPHA04501160606075
HP:0001276HP:0011099Spastic hemiparesis2TWNK CL E G H56652254892ORPHA04501160606075
HP:0001276HP:0001285Spastic tetraparesis2TWNK CL E G H56652254892ORPHA04501160606075
HP:0001276HP:0002510Spastic tetraplegia2TWNK CL E G H56652254892ORPHA04501160606075
HP:0001276HP:0002501Spasticity of pharyngeal muscles2TWNK CL E G H56652254892ORPHA04501160606075
HP:0001276HP:0006986Upper limb spasticity2TWNK CL E G H56652254892ORPHA04501160606075
HP:0001276HP:0002491Spasticity of facial muscles2WDR4 CL E G H107852065ORPHA028212756605924
HP:0001276HP:0200049Upper limb hypertonia2WDR4 CL E G H107852065ORPHA028212756605924
HP:0001276HP:0006895Lower limb hypertonia2WDR4 CL E G H107852065ORPHA028212756605924
HP:0001276HP:0002396Cogwheel rigidity2WDR4 CL E G H107852065ORPHA028212756605924
HP:0001276HP:0025013Decerebrate rigidity2WDR4 CL E G H107852065ORPHA028212756605924
HP:0001276HP:0011444Decorticate rigidity2WDR4 CL E G H107852065ORPHA028212756605924
HP:0001276HP:0007076Extrapyramidal muscular rigidity2WDR4 CL E G H107852065ORPHA028212756605924
HP:0001276HP:0031866Clasp-knife sign2WDR4 CL E G H107852065ORPHA028212756605924
HP:0001276HP:0002061Lower limb spasticity2WDR4 CL E G H107852065ORPHA028212756605924
HP:0001276HP:0002179Opisthotonus2WDR4 CL E G H107852065ORPHA028212756605924
HP:0001276HP:0002191Progressive spasticity2WDR4 CL E G H107852065ORPHA028212756605924
HP:0001276HP:0001264Spastic diplegia2WDR4 CL E G H107852065ORPHA028212756605924
HP:0001276HP:0002464Spastic dysarthria2WDR4 CL E G H107852065ORPHA028212756605924
HP:0001276HP:0002064Spastic gait2WDR4 CL E G H107852065ORPHA028212756605924
HP:0001276HP:0011099Spastic hemiparesis2WDR4 CL E G H107852065ORPHA028212756605924
HP:0001276HP:0001285Spastic tetraparesis2WDR4 CL E G H107852065ORPHA028212756605924
HP:0001276HP:0002510Spastic tetraplegia2WDR4 CL E G H107852065ORPHA028212756605924
HP:0001276HP:0002501Spasticity of pharyngeal muscles2WDR4 CL E G H107852065ORPHA028212756605924
HP:0001276HP:0006986Upper limb spasticity2WDR4 CL E G H107852065ORPHA028212756605924
HP:0001276HP:0002491Spasticity of facial muscles2WDR73 CL E G H849422065ORPHA022025928616144
HP:0001276HP:0200049Upper limb hypertonia2WDR73 CL E G H849422065ORPHA022025928616144
HP:0001276HP:0006895Lower limb hypertonia2WDR73 CL E G H849422065ORPHA022025928616144
HP:0001276HP:0002396Cogwheel rigidity2WDR73 CL E G H849422065ORPHA022025928616144
HP:0001276HP:0025013Decerebrate rigidity2WDR73 CL E G H849422065ORPHA022025928616144
HP:0001276HP:0011444Decorticate rigidity2WDR73 CL E G H849422065ORPHA022025928616144
HP:0001276HP:0007076Extrapyramidal muscular rigidity2WDR73 CL E G H849422065ORPHA022025928616144
HP:0001276HP:0031866Clasp-knife sign2WDR73 CL E G H849422065ORPHA022025928616144
HP:0001276HP:0002061Lower limb spasticity2WDR73 CL E G H849422065ORPHA022025928616144
HP:0001276HP:0002179Opisthotonus2WDR73 CL E G H849422065ORPHA022025928616144
HP:0001276HP:0002191Progressive spasticity2WDR73 CL E G H849422065ORPHA022025928616144
HP:0001276HP:0001264Spastic diplegia2WDR73 CL E G H849422065ORPHA022025928616144
HP:0001276HP:0002464Spastic dysarthria2WDR73 CL E G H849422065ORPHA022025928616144
HP:0001276HP:0002064Spastic gait2WDR73 CL E G H849422065ORPHA022025928616144
HP:0001276HP:0011099Spastic hemiparesis2WDR73 CL E G H849422065ORPHA022025928616144
HP:0001276HP:0001285Spastic tetraparesis2WDR73 CL E G H849422065ORPHA022025928616144
HP:0001276HP:0002510Spastic tetraplegia2WDR73 CL E G H849422065ORPHA022025928616144
HP:0001276HP:0002501Spasticity of pharyngeal muscles2WDR73 CL E G H849422065ORPHA022025928616144
HP:0001276HP:0006986Upper limb spasticity2WDR73 CL E G H849422065ORPHA022025928616144
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3ACOX1 CL E G H512971ORPHA0665119609751
HP:0001276HP:0002313Spastic paraparesis3ACOX1 CL E G H512971ORPHA0665119609751
HP:0001276HP:0001258Spastic paraplegia3ACOX1 CL E G H512971ORPHA0665119609751
HP:0001276HP:0002478Progressive spastic quadriplegia3ACOX1 CL E G H512971ORPHA0665119609751
HP:0001276HP:0031957Spastic hemiparetic gait3ACOX1 CL E G H512971ORPHA0665119609751
HP:0001276HP:0031958Spastic paraparetic gait3ACOX1 CL E G H512971ORPHA0665119609751
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM0506129102610
HP:0001276HP:0002313Spastic paraparesis3ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM0506129102610
HP:0001276HP:0001258Spastic paraplegia3ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM0506129102610
HP:0001276HP:0002478Progressive spastic quadriplegia3ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM0506129102610
HP:0001276HP:0031957Spastic hemiparetic gait3ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM0506129102610
HP:0001276HP:0031958Spastic paraparetic gait3ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM0506129102610
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3ADGRG1 CL E G H9289606854Polymicrogyria, bilateral frontoparietal606854C1847352OMIM07834512604110
HP:0001276HP:0002313Spastic paraparesis3ADGRG1 CL E G H9289606854Polymicrogyria, bilateral frontoparietal606854C1847352OMIM07834512604110
HP:0001276HP:0001258Spastic paraplegia3ADGRG1 CL E G H9289606854Polymicrogyria, bilateral frontoparietal606854C1847352OMIM07834512604110
HP:0001276HP:0002478Progressive spastic quadriplegia3ADGRG1 CL E G H9289606854Polymicrogyria, bilateral frontoparietal606854C1847352OMIM07834512604110
HP:0001276HP:0031957Spastic hemiparetic gait3ADGRG1 CL E G H9289606854Polymicrogyria, bilateral frontoparietal606854C1847352OMIM07834512604110
HP:0001276HP:0031958Spastic paraparetic gait3ADGRG1 CL E G H9289606854Polymicrogyria, bilateral frontoparietal606854C1847352OMIM07834512604110
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA039429216610911
HP:0001276HP:0002313Spastic paraparesis3ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA039429216610911
HP:0001276HP:0001258Spastic paraplegia3ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA039429216610911
HP:0001276HP:0002478Progressive spastic quadriplegia3ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA039429216610911
HP:0001276HP:0031957Spastic hemiparetic gait3ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA039429216610911
HP:0001276HP:0031958Spastic paraparetic gait3ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA039429216610911
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3ATP13A2 CL E G H23400306674ORPHA097430213610513
HP:0001276HP:0002313Spastic paraparesis3ATP13A2 CL E G H23400306674ORPHA097430213610513
HP:0001276HP:0001258Spastic paraplegia3ATP13A2 CL E G H23400306674ORPHA097430213610513
HP:0001276HP:0002478Progressive spastic quadriplegia3ATP13A2 CL E G H23400306674ORPHA097430213610513
HP:0001276HP:0031957Spastic hemiparetic gait3ATP13A2 CL E G H23400306674ORPHA097430213610513
HP:0001276HP:0031958Spastic paraparetic gait3ATP13A2 CL E G H23400306674ORPHA097430213610513
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM083514262607270
HP:0001276HP:0002313Spastic paraparesis3AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM083514262607270
HP:0001276HP:0001258Spastic paraplegia3AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM083514262607270
HP:0001276HP:0002478Progressive spastic quadriplegia3AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM083514262607270
HP:0001276HP:0031957Spastic hemiparetic gait3AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM083514262607270
HP:0001276HP:0031958Spastic paraparetic gait3AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM083514262607270
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3BTD CL E G H68679241ORPHA05981122609019
HP:0001276HP:0002313Spastic paraparesis3BTD CL E G H68679241ORPHA05981122609019
HP:0001276HP:0001258Spastic paraplegia3BTD CL E G H68679241ORPHA05981122609019
HP:0001276HP:0002478Progressive spastic quadriplegia3BTD CL E G H68679241ORPHA05981122609019
HP:0001276HP:0031957Spastic hemiparetic gait3BTD CL E G H68679241ORPHA05981122609019
HP:0001276HP:0031958Spastic paraparetic gait3BTD CL E G H68679241ORPHA05981122609019
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3DHCR7 CL E G H1717818ORPHA07792860602858
HP:0001276HP:0002313Spastic paraparesis3DHCR7 CL E G H1717818ORPHA07792860602858
HP:0001276HP:0001258Spastic paraplegia3DHCR7 CL E G H1717818ORPHA07792860602858
HP:0001276HP:0002478Progressive spastic quadriplegia3DHCR7 CL E G H1717818ORPHA07792860602858
HP:0001276HP:0031957Spastic hemiparetic gait3DHCR7 CL E G H1717818ORPHA07792860602858
HP:0001276HP:0031958Spastic paraparetic gait3DHCR7 CL E G H1717818ORPHA07792860602858
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA02122910605185
HP:0001276HP:0002313Spastic paraparesis3DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA02122910605185
HP:0001276HP:0001258Spastic paraplegia3DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA02122910605185
HP:0001276HP:0002478Progressive spastic quadriplegia3DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA02122910605185
HP:0001276HP:0031957Spastic hemiparetic gait3DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA02122910605185
HP:0001276HP:0031958Spastic paraparetic gait3DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA02122910605185
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA0108019189614194
HP:0001276HP:0002313Spastic paraparesis3DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA0108019189614194
HP:0001276HP:0001258Spastic paraplegia3DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA0108019189614194
HP:0001276HP:0002478Progressive spastic quadriplegia3DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA0108019189614194
HP:0001276HP:0031957Spastic hemiparetic gait3DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA0108019189614194
HP:0001276HP:0031958Spastic paraparetic gait3DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA0108019189614194
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA021828526614789
HP:0001276HP:0002313Spastic paraparesis3EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA021828526614789
HP:0001276HP:0001258Spastic paraplegia3EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA021828526614789
HP:0001276HP:0002478Progressive spastic quadriplegia3EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA021828526614789
HP:0001276HP:0031957Spastic hemiparetic gait3EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA021828526614789
HP:0001276HP:0031958Spastic paraparetic gait3EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA021828526614789
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3ERF CL E G H20773267ORPHA01783444611888
HP:0001276HP:0002313Spastic paraparesis3ERF CL E G H20773267ORPHA01783444611888
HP:0001276HP:0001258Spastic paraplegia3ERF CL E G H20773267ORPHA01783444611888
HP:0001276HP:0002478Progressive spastic quadriplegia3ERF CL E G H20773267ORPHA01783444611888
HP:0001276HP:0031957Spastic hemiparetic gait3ERF CL E G H20773267ORPHA01783444611888
HP:0001276HP:0031958Spastic paraparetic gait3ERF CL E G H20773267ORPHA01783444611888
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3HUWE1 CL E G H1007585328ORPHA0128530892300697
HP:0001276HP:0002313Spastic paraparesis3HUWE1 CL E G H1007585328ORPHA0128530892300697
HP:0001276HP:0001258Spastic paraplegia3HUWE1 CL E G H1007585328ORPHA0128530892300697
HP:0001276HP:0002478Progressive spastic quadriplegia3HUWE1 CL E G H1007585328ORPHA0128530892300697
HP:0001276HP:0031957Spastic hemiparetic gait3HUWE1 CL E G H1007585328ORPHA0128530892300697
HP:0001276HP:0031958Spastic paraparetic gait3HUWE1 CL E G H1007585328ORPHA0128530892300697
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3KCNA1 CL E G H373637612ORPHA05756218176260
HP:0001276HP:0002313Spastic paraparesis3KCNA1 CL E G H373637612ORPHA05756218176260
HP:0001276HP:0001258Spastic paraplegia3KCNA1 CL E G H373637612ORPHA05756218176260
HP:0001276HP:0002478Progressive spastic quadriplegia3KCNA1 CL E G H373637612ORPHA05756218176260
HP:0001276HP:0031957Spastic hemiparetic gait3KCNA1 CL E G H373637612ORPHA05756218176260
HP:0001276HP:0031958Spastic paraparetic gait3KCNA1 CL E G H373637612ORPHA05756218176260
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3LAGE3 CL E G H82702065ORPHA027026058300060
HP:0001276HP:0002313Spastic paraparesis3LAGE3 CL E G H82702065ORPHA027026058300060
HP:0001276HP:0001258Spastic paraplegia3LAGE3 CL E G H82702065ORPHA027026058300060
HP:0001276HP:0002478Progressive spastic quadriplegia3LAGE3 CL E G H82702065ORPHA027026058300060
HP:0001276HP:0031957Spastic hemiparetic gait3LAGE3 CL E G H82702065ORPHA027026058300060
HP:0001276HP:0031958Spastic paraparetic gait3LAGE3 CL E G H82702065ORPHA027026058300060
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3LYST CL E G H1130352723ORPHA025751968606897
HP:0001276HP:0002313Spastic paraparesis3LYST CL E G H1130352723ORPHA025751968606897
HP:0001276HP:0001258Spastic paraplegia3LYST CL E G H1130352723ORPHA025751968606897
HP:0001276HP:0002478Progressive spastic quadriplegia3LYST CL E G H1130352723ORPHA025751968606897
HP:0001276HP:0031957Spastic hemiparetic gait3LYST CL E G H1130352723ORPHA025751968606897
HP:0001276HP:0031958Spastic paraparetic gait3LYST CL E G H1130352723ORPHA025751968606897
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3MORC2 CL E G H22880616688Charcot-Marie-Tooth disease, axonal, type 2z616688C4225243OMIM072623573616661
HP:0001276HP:0002313Spastic paraparesis3MORC2 CL E G H22880616688Charcot-Marie-Tooth disease, axonal, type 2z616688C4225243OMIM072623573616661
HP:0001276HP:0001258Spastic paraplegia3MORC2 CL E G H22880616688Charcot-Marie-Tooth disease, axonal, type 2z616688C4225243OMIM072623573616661
HP:0001276HP:0002478Progressive spastic quadriplegia3MORC2 CL E G H22880616688Charcot-Marie-Tooth disease, axonal, type 2z616688C4225243OMIM072623573616661
HP:0001276HP:0031957Spastic hemiparetic gait3MORC2 CL E G H22880616688Charcot-Marie-Tooth disease, axonal, type 2z616688C4225243OMIM072623573616661
HP:0001276HP:0031958Spastic paraparetic gait3MORC2 CL E G H22880616688Charcot-Marie-Tooth disease, axonal, type 2z616688C4225243OMIM072623573616661
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3MPDU1 CL E G H9526609180Congenital disorder of glycosylation type 1F609180C1836669OMIM01257207604041
HP:0001276HP:0002313Spastic paraparesis3MPDU1 CL E G H9526609180Congenital disorder of glycosylation type 1F609180C1836669OMIM01257207604041
HP:0001276HP:0001258Spastic paraplegia3MPDU1 CL E G H9526609180Congenital disorder of glycosylation type 1F609180C1836669OMIM01257207604041
HP:0001276HP:0002478Progressive spastic quadriplegia3MPDU1 CL E G H9526609180Congenital disorder of glycosylation type 1F609180C1836669OMIM01257207604041
HP:0001276HP:0031957Spastic hemiparetic gait3MPDU1 CL E G H9526609180Congenital disorder of glycosylation type 1F609180C1836669OMIM01257207604041
HP:0001276HP:0031958Spastic paraparetic gait3MPDU1 CL E G H9526609180Congenital disorder of glycosylation type 1F609180C1836669OMIM01257207604041
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3NAA10 CL E G H8260276432ORPHA040118704300013
HP:0001276HP:0002313Spastic paraparesis3NAA10 CL E G H8260276432ORPHA040118704300013
HP:0001276HP:0001258Spastic paraplegia3NAA10 CL E G H8260276432ORPHA040118704300013
HP:0001276HP:0002478Progressive spastic quadriplegia3NAA10 CL E G H8260276432ORPHA040118704300013
HP:0001276HP:0031957Spastic hemiparetic gait3NAA10 CL E G H8260276432ORPHA040118704300013
HP:0001276HP:0031958Spastic paraparetic gait3NAA10 CL E G H8260276432ORPHA040118704300013
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3NDE1 CL E G H54820614019Lissencephaly 4614019C3151461OMIM0162317619609449
HP:0001276HP:0002313Spastic paraparesis3NDE1 CL E G H54820614019Lissencephaly 4614019C3151461OMIM0162317619609449
HP:0001276HP:0001258Spastic paraplegia3NDE1 CL E G H54820614019Lissencephaly 4614019C3151461OMIM0162317619609449
HP:0001276HP:0002478Progressive spastic quadriplegia3NDE1 CL E G H54820614019Lissencephaly 4614019C3151461OMIM0162317619609449
HP:0001276HP:0031957Spastic hemiparetic gait3NDE1 CL E G H54820614019Lissencephaly 4614019C3151461OMIM0162317619609449
HP:0001276HP:0031958Spastic paraparetic gait3NDE1 CL E G H54820614019Lissencephaly 4614019C3151461OMIM0162317619609449
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3NDP CL E G H4693649ORPHA02997678300658
HP:0001276HP:0002313Spastic paraparesis3NDP CL E G H4693649ORPHA02997678300658
HP:0001276HP:0001258Spastic paraplegia3NDP CL E G H4693649ORPHA02997678300658
HP:0001276HP:0002478Progressive spastic quadriplegia3NDP CL E G H4693649ORPHA02997678300658
HP:0001276HP:0031957Spastic hemiparetic gait3NDP CL E G H4693649ORPHA02997678300658
HP:0001276HP:0031958Spastic paraparetic gait3NDP CL E G H4693649ORPHA02997678300658
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM06715911614154
HP:0001276HP:0002313Spastic paraparesis3NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM06715911614154
HP:0001276HP:0001258Spastic paraplegia3NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM06715911614154
HP:0001276HP:0002478Progressive spastic quadriplegia3NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM06715911614154
HP:0001276HP:0031957Spastic hemiparetic gait3NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM06715911614154
HP:0001276HP:0031958Spastic paraparetic gait3NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM06715911614154
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA031877881190198
HP:0001276HP:0002313Spastic paraparesis3NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA031877881190198
HP:0001276HP:0001258Spastic paraplegia3NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA031877881190198
HP:0001276HP:0002478Progressive spastic quadriplegia3NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA031877881190198
HP:0001276HP:0031957Spastic hemiparetic gait3NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA031877881190198
HP:0001276HP:0031958Spastic paraparetic gait3NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA031877881190198
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3NPHP3 CL E G H27031267010Meckel syndrome type 7267010C2673885OMIM011067907608002
HP:0001276HP:0002313Spastic paraparesis3NPHP3 CL E G H27031267010Meckel syndrome type 7267010C2673885OMIM011067907608002
HP:0001276HP:0001258Spastic paraplegia3NPHP3 CL E G H27031267010Meckel syndrome type 7267010C2673885OMIM011067907608002
HP:0001276HP:0002478Progressive spastic quadriplegia3NPHP3 CL E G H27031267010Meckel syndrome type 7267010C2673885OMIM011067907608002
HP:0001276HP:0031957Spastic hemiparetic gait3NPHP3 CL E G H27031267010Meckel syndrome type 7267010C2673885OMIM011067907608002
HP:0001276HP:0031958Spastic paraparetic gait3NPHP3 CL E G H27031267010Meckel syndrome type 7267010C2673885OMIM011067907608002
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3NUP107 CL E G H571222065ORPHA024229914607617
HP:0001276HP:0002313Spastic paraparesis3NUP107 CL E G H571222065ORPHA024229914607617
HP:0001276HP:0001258Spastic paraplegia3NUP107 CL E G H571222065ORPHA024229914607617
HP:0001276HP:0002478Progressive spastic quadriplegia3NUP107 CL E G H571222065ORPHA024229914607617
HP:0001276HP:0031957Spastic hemiparetic gait3NUP107 CL E G H571222065ORPHA024229914607617
HP:0001276HP:0031958Spastic paraparetic gait3NUP107 CL E G H571222065ORPHA024229914607617
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3OSGEP CL E G H556442065ORPHA015218028610107
HP:0001276HP:0002313Spastic paraparesis3OSGEP CL E G H556442065ORPHA015218028610107
HP:0001276HP:0001258Spastic paraplegia3OSGEP CL E G H556442065ORPHA015218028610107
HP:0001276HP:0002478Progressive spastic quadriplegia3OSGEP CL E G H556442065ORPHA015218028610107
HP:0001276HP:0031957Spastic hemiparetic gait3OSGEP CL E G H556442065ORPHA015218028610107
HP:0001276HP:0031958Spastic paraparetic gait3OSGEP CL E G H556442065ORPHA015218028610107
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3POLG CL E G H5428254892ORPHA023249179174763
HP:0001276HP:0002313Spastic paraparesis3POLG CL E G H5428254892ORPHA023249179174763
HP:0001276HP:0001258Spastic paraplegia3POLG CL E G H5428254892ORPHA023249179174763
HP:0001276HP:0002478Progressive spastic quadriplegia3POLG CL E G H5428254892ORPHA023249179174763
HP:0001276HP:0031957Spastic hemiparetic gait3POLG CL E G H5428254892ORPHA023249179174763
HP:0001276HP:0031958Spastic paraparetic gait3POLG CL E G H5428254892ORPHA023249179174763
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3POLG2 CL E G H11232254892ORPHA03579180604983
HP:0001276HP:0002313Spastic paraparesis3POLG2 CL E G H11232254892ORPHA03579180604983
HP:0001276HP:0001258Spastic paraplegia3POLG2 CL E G H11232254892ORPHA03579180604983
HP:0001276HP:0002478Progressive spastic quadriplegia3POLG2 CL E G H11232254892ORPHA03579180604983
HP:0001276HP:0031957Spastic hemiparetic gait3POLG2 CL E G H11232254892ORPHA03579180604983
HP:0001276HP:0031958Spastic paraparetic gait3POLG2 CL E G H11232254892ORPHA03579180604983
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3PSPH CL E G H572379350ORPHA01899577172480
HP:0001276HP:0002313Spastic paraparesis3PSPH CL E G H572379350ORPHA01899577172480
HP:0001276HP:0001258Spastic paraplegia3PSPH CL E G H572379350ORPHA01899577172480
HP:0001276HP:0002478Progressive spastic quadriplegia3PSPH CL E G H572379350ORPHA01899577172480
HP:0001276HP:0031957Spastic hemiparetic gait3PSPH CL E G H572379350ORPHA01899577172480
HP:0001276HP:0031958Spastic paraparetic gait3PSPH CL E G H572379350ORPHA01899577172480
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3RAB27A CL E G H587379477ORPHA02989766603868
HP:0001276HP:0002313Spastic paraparesis3RAB27A CL E G H587379477ORPHA02989766603868
HP:0001276HP:0001258Spastic paraplegia3RAB27A CL E G H587379477ORPHA02989766603868
HP:0001276HP:0002478Progressive spastic quadriplegia3RAB27A CL E G H587379477ORPHA02989766603868
HP:0001276HP:0031957Spastic hemiparetic gait3RAB27A CL E G H587379477ORPHA02989766603868
HP:0001276HP:0031958Spastic paraparetic gait3RAB27A CL E G H587379477ORPHA02989766603868
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA01865724147183
HP:0001276HP:0002313Spastic paraparesis3RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA01865724147183
HP:0001276HP:0001258Spastic paraplegia3RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA01865724147183
HP:0001276HP:0002478Progressive spastic quadriplegia3RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA01865724147183
HP:0001276HP:0031957Spastic hemiparetic gait3RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA01865724147183
HP:0001276HP:0031958Spastic paraparetic gait3RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA01865724147183
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3RRM2B CL E G H50484254892ORPHA035417296604712
HP:0001276HP:0002313Spastic paraparesis3RRM2B CL E G H50484254892ORPHA035417296604712
HP:0001276HP:0001258Spastic paraplegia3RRM2B CL E G H50484254892ORPHA035417296604712
HP:0001276HP:0002478Progressive spastic quadriplegia3RRM2B CL E G H50484254892ORPHA035417296604712
HP:0001276HP:0031957Spastic hemiparetic gait3RRM2B CL E G H50484254892ORPHA035417296604712
HP:0001276HP:0031958Spastic paraparetic gait3RRM2B CL E G H50484254892ORPHA035417296604712
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3SCN4A CL E G H6329682ORPHA0176510591603967
HP:0001276HP:0002313Spastic paraparesis3SCN4A CL E G H6329682ORPHA0176510591603967
HP:0001276HP:0001258Spastic paraplegia3SCN4A CL E G H6329682ORPHA0176510591603967
HP:0001276HP:0002478Progressive spastic quadriplegia3SCN4A CL E G H6329682ORPHA0176510591603967
HP:0001276HP:0031957Spastic hemiparetic gait3SCN4A CL E G H6329682ORPHA0176510591603967
HP:0001276HP:0031958Spastic paraparetic gait3SCN4A CL E G H6329682ORPHA0176510591603967
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3SLC25A4 CL E G H291254892ORPHA033310990103220
HP:0001276HP:0002313Spastic paraparesis3SLC25A4 CL E G H291254892ORPHA033310990103220
HP:0001276HP:0001258Spastic paraplegia3SLC25A4 CL E G H291254892ORPHA033310990103220
HP:0001276HP:0002478Progressive spastic quadriplegia3SLC25A4 CL E G H291254892ORPHA033310990103220
HP:0001276HP:0031957Spastic hemiparetic gait3SLC25A4 CL E G H291254892ORPHA033310990103220
HP:0001276HP:0031958Spastic paraparetic gait3SLC25A4 CL E G H291254892ORPHA033310990103220
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3TBL1XR1 CL E G H79718602342Pierpont syndrome602342C1865644OMIM050229529608628
HP:0001276HP:0002313Spastic paraparesis3TBL1XR1 CL E G H79718602342Pierpont syndrome602342C1865644OMIM050229529608628
HP:0001276HP:0001258Spastic paraplegia3TBL1XR1 CL E G H79718602342Pierpont syndrome602342C1865644OMIM050229529608628
HP:0001276HP:0002478Progressive spastic quadriplegia3TBL1XR1 CL E G H79718602342Pierpont syndrome602342C1865644OMIM050229529608628
HP:0001276HP:0031957Spastic hemiparetic gait3TBL1XR1 CL E G H79718602342Pierpont syndrome602342C1865644OMIM050229529608628
HP:0001276HP:0031958Spastic paraparetic gait3TBL1XR1 CL E G H79718602342Pierpont syndrome602342C1865644OMIM050229529608628
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3TP53 CL E G H71572807ORPHA0297711998191170
HP:0001276HP:0002313Spastic paraparesis3TP53 CL E G H71572807ORPHA0297711998191170
HP:0001276HP:0001258Spastic paraplegia3TP53 CL E G H71572807ORPHA0297711998191170
HP:0001276HP:0002478Progressive spastic quadriplegia3TP53 CL E G H71572807ORPHA0297711998191170
HP:0001276HP:0031957Spastic hemiparetic gait3TP53 CL E G H71572807ORPHA0297711998191170
HP:0001276HP:0031958Spastic paraparetic gait3TP53 CL E G H71572807ORPHA0297711998191170
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3TP53RK CL E G H1128582065ORPHA07016197608679
HP:0001276HP:0002313Spastic paraparesis3TP53RK CL E G H1128582065ORPHA07016197608679
HP:0001276HP:0001258Spastic paraplegia3TP53RK CL E G H1128582065ORPHA07016197608679
HP:0001276HP:0002478Progressive spastic quadriplegia3TP53RK CL E G H1128582065ORPHA07016197608679
HP:0001276HP:0031957Spastic hemiparetic gait3TP53RK CL E G H1128582065ORPHA07016197608679
HP:0001276HP:0031958Spastic paraparetic gait3TP53RK CL E G H1128582065ORPHA07016197608679
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3TPRKB CL E G H510022065ORPHA04624259608680
HP:0001276HP:0002313Spastic paraparesis3TPRKB CL E G H510022065ORPHA04624259608680
HP:0001276HP:0001258Spastic paraplegia3TPRKB CL E G H510022065ORPHA04624259608680
HP:0001276HP:0002478Progressive spastic quadriplegia3TPRKB CL E G H510022065ORPHA04624259608680
HP:0001276HP:0031957Spastic hemiparetic gait3TPRKB CL E G H510022065ORPHA04624259608680
HP:0001276HP:0031958Spastic paraparetic gait3TPRKB CL E G H510022065ORPHA04624259608680
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3TTPA CL E G H727496ORPHA038912404600415
HP:0001276HP:0002313Spastic paraparesis3TTPA CL E G H727496ORPHA038912404600415
HP:0001276HP:0001258Spastic paraplegia3TTPA CL E G H727496ORPHA038912404600415
HP:0001276HP:0002478Progressive spastic quadriplegia3TTPA CL E G H727496ORPHA038912404600415
HP:0001276HP:0031957Spastic hemiparetic gait3TTPA CL E G H727496ORPHA038912404600415
HP:0001276HP:0031958Spastic paraparetic gait3TTPA CL E G H727496ORPHA038912404600415
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3TWNK CL E G H56652254892ORPHA04501160606075
HP:0001276HP:0002313Spastic paraparesis3TWNK CL E G H56652254892ORPHA04501160606075
HP:0001276HP:0001258Spastic paraplegia3TWNK CL E G H56652254892ORPHA04501160606075
HP:0001276HP:0002478Progressive spastic quadriplegia3TWNK CL E G H56652254892ORPHA04501160606075
HP:0001276HP:0031957Spastic hemiparetic gait3TWNK CL E G H56652254892ORPHA04501160606075
HP:0001276HP:0031958Spastic paraparetic gait3TWNK CL E G H56652254892ORPHA04501160606075
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3WDR4 CL E G H107852065ORPHA028212756605924
HP:0001276HP:0002313Spastic paraparesis3WDR4 CL E G H107852065ORPHA028212756605924
HP:0001276HP:0001258Spastic paraplegia3WDR4 CL E G H107852065ORPHA028212756605924
HP:0001276HP:0002478Progressive spastic quadriplegia3WDR4 CL E G H107852065ORPHA028212756605924
HP:0001276HP:0031957Spastic hemiparetic gait3WDR4 CL E G H107852065ORPHA028212756605924
HP:0001276HP:0031958Spastic paraparetic gait3WDR4 CL E G H107852065ORPHA028212756605924
HP:0001276HP:0007158Progressive extrapyramidal muscular rigidity3WDR73 CL E G H849422065ORPHA022025928616144
HP:0001276HP:0002313Spastic paraparesis3WDR73 CL E G H849422065ORPHA022025928616144
HP:0001276HP:0001258Spastic paraplegia3WDR73 CL E G H849422065ORPHA022025928616144
HP:0001276HP:0002478Progressive spastic quadriplegia3WDR73 CL E G H849422065ORPHA022025928616144
HP:0001276HP:0031957Spastic hemiparetic gait3WDR73 CL E G H849422065ORPHA022025928616144
HP:0001276HP:0031958Spastic paraparetic gait3WDR73 CL E G H849422065ORPHA022025928616144
HP:0001276HP:0007199Progressive spastic paraparesis4ACOX1 CL E G H512971ORPHA0665119609751
HP:0001276HP:0007020Progressive spastic paraplegia4ACOX1 CL E G H512971ORPHA0665119609751
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4ACOX1 CL E G H512971ORPHA0665119609751
HP:0001276HP:0012407Scissor gait4ACOX1 CL E G H512971ORPHA0665119609751
HP:0001276HP:0007199Progressive spastic paraparesis4ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM0506129102610
HP:0001276HP:0007020Progressive spastic paraplegia4ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM0506129102610
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM0506129102610
HP:0001276HP:0012407Scissor gait4ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM0506129102610
HP:0001276HP:0007199Progressive spastic paraparesis4ADGRG1 CL E G H9289606854Polymicrogyria, bilateral frontoparietal606854C1847352OMIM07834512604110
HP:0001276HP:0007020Progressive spastic paraplegia4ADGRG1 CL E G H9289606854Polymicrogyria, bilateral frontoparietal606854C1847352OMIM07834512604110
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4ADGRG1 CL E G H9289606854Polymicrogyria, bilateral frontoparietal606854C1847352OMIM07834512604110
HP:0001276HP:0012407Scissor gait4ADGRG1 CL E G H9289606854Polymicrogyria, bilateral frontoparietal606854C1847352OMIM07834512604110
HP:0001276HP:0007199Progressive spastic paraparesis4ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA039429216610911
HP:0001276HP:0007020Progressive spastic paraplegia4ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA039429216610911
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA039429216610911
HP:0001276HP:0012407Scissor gait4ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA039429216610911
HP:0001276HP:0007199Progressive spastic paraparesis4ATP13A2 CL E G H23400306674ORPHA097430213610513
HP:0001276HP:0007020Progressive spastic paraplegia4ATP13A2 CL E G H23400306674ORPHA097430213610513
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4ATP13A2 CL E G H23400306674ORPHA097430213610513
HP:0001276HP:0012407Scissor gait4ATP13A2 CL E G H23400306674ORPHA097430213610513
HP:0001276HP:0007199Progressive spastic paraparesis4AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM083514262607270
HP:0001276HP:0007020Progressive spastic paraplegia4AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM083514262607270
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM083514262607270
HP:0001276HP:0012407Scissor gait4AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM083514262607270
HP:0001276HP:0007199Progressive spastic paraparesis4BTD CL E G H68679241ORPHA05981122609019
HP:0001276HP:0007020Progressive spastic paraplegia4BTD CL E G H68679241ORPHA05981122609019
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4BTD CL E G H68679241ORPHA05981122609019
HP:0001276HP:0012407Scissor gait4BTD CL E G H68679241ORPHA05981122609019
HP:0001276HP:0007199Progressive spastic paraparesis4DHCR7 CL E G H1717818ORPHA07792860602858
HP:0001276HP:0007020Progressive spastic paraplegia4DHCR7 CL E G H1717818ORPHA07792860602858
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4DHCR7 CL E G H1717818ORPHA07792860602858
HP:0001276HP:0012407Scissor gait4DHCR7 CL E G H1717818ORPHA07792860602858
HP:0001276HP:0007199Progressive spastic paraparesis4DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA02122910605185
HP:0001276HP:0007020Progressive spastic paraplegia4DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA02122910605185
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA02122910605185
HP:0001276HP:0012407Scissor gait4DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA02122910605185
HP:0001276HP:0007199Progressive spastic paraparesis4DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA0108019189614194
HP:0001276HP:0007020Progressive spastic paraplegia4DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA0108019189614194
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA0108019189614194
HP:0001276HP:0012407Scissor gait4DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA0108019189614194
HP:0001276HP:0007199Progressive spastic paraparesis4EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA021828526614789
HP:0001276HP:0007020Progressive spastic paraplegia4EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA021828526614789
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA021828526614789
HP:0001276HP:0012407Scissor gait4EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA021828526614789
HP:0001276HP:0007199Progressive spastic paraparesis4ERF CL E G H20773267ORPHA01783444611888
HP:0001276HP:0007020Progressive spastic paraplegia4ERF CL E G H20773267ORPHA01783444611888
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4ERF CL E G H20773267ORPHA01783444611888
HP:0001276HP:0012407Scissor gait4ERF CL E G H20773267ORPHA01783444611888
HP:0001276HP:0007199Progressive spastic paraparesis4HUWE1 CL E G H1007585328ORPHA0128530892300697
HP:0001276HP:0007020Progressive spastic paraplegia4HUWE1 CL E G H1007585328ORPHA0128530892300697
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4HUWE1 CL E G H1007585328ORPHA0128530892300697
HP:0001276HP:0012407Scissor gait4HUWE1 CL E G H1007585328ORPHA0128530892300697
HP:0001276HP:0007199Progressive spastic paraparesis4KCNA1 CL E G H373637612ORPHA05756218176260
HP:0001276HP:0007020Progressive spastic paraplegia4KCNA1 CL E G H373637612ORPHA05756218176260
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4KCNA1 CL E G H373637612ORPHA05756218176260
HP:0001276HP:0012407Scissor gait4KCNA1 CL E G H373637612ORPHA05756218176260
HP:0001276HP:0007199Progressive spastic paraparesis4LAGE3 CL E G H82702065ORPHA027026058300060
HP:0001276HP:0007020Progressive spastic paraplegia4LAGE3 CL E G H82702065ORPHA027026058300060
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4LAGE3 CL E G H82702065ORPHA027026058300060
HP:0001276HP:0012407Scissor gait4LAGE3 CL E G H82702065ORPHA027026058300060
HP:0001276HP:0007199Progressive spastic paraparesis4LYST CL E G H1130352723ORPHA025751968606897
HP:0001276HP:0007020Progressive spastic paraplegia4LYST CL E G H1130352723ORPHA025751968606897
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4LYST CL E G H1130352723ORPHA025751968606897
HP:0001276HP:0012407Scissor gait4LYST CL E G H1130352723ORPHA025751968606897
HP:0001276HP:0007199Progressive spastic paraparesis4MORC2 CL E G H22880616688Charcot-Marie-Tooth disease, axonal, type 2z616688C4225243OMIM072623573616661
HP:0001276HP:0007020Progressive spastic paraplegia4MORC2 CL E G H22880616688Charcot-Marie-Tooth disease, axonal, type 2z616688C4225243OMIM072623573616661
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4MORC2 CL E G H22880616688Charcot-Marie-Tooth disease, axonal, type 2z616688C4225243OMIM072623573616661
HP:0001276HP:0012407Scissor gait4MORC2 CL E G H22880616688Charcot-Marie-Tooth disease, axonal, type 2z616688C4225243OMIM072623573616661
HP:0001276HP:0007199Progressive spastic paraparesis4MPDU1 CL E G H9526609180Congenital disorder of glycosylation type 1F609180C1836669OMIM01257207604041
HP:0001276HP:0007020Progressive spastic paraplegia4MPDU1 CL E G H9526609180Congenital disorder of glycosylation type 1F609180C1836669OMIM01257207604041
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4MPDU1 CL E G H9526609180Congenital disorder of glycosylation type 1F609180C1836669OMIM01257207604041
HP:0001276HP:0012407Scissor gait4MPDU1 CL E G H9526609180Congenital disorder of glycosylation type 1F609180C1836669OMIM01257207604041
HP:0001276HP:0007199Progressive spastic paraparesis4NAA10 CL E G H8260276432ORPHA040118704300013
HP:0001276HP:0007020Progressive spastic paraplegia4NAA10 CL E G H8260276432ORPHA040118704300013
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4NAA10 CL E G H8260276432ORPHA040118704300013
HP:0001276HP:0012407Scissor gait4NAA10 CL E G H8260276432ORPHA040118704300013
HP:0001276HP:0007199Progressive spastic paraparesis4NDE1 CL E G H54820614019Lissencephaly 4614019C3151461OMIM0162317619609449
HP:0001276HP:0007020Progressive spastic paraplegia4NDE1 CL E G H54820614019Lissencephaly 4614019C3151461OMIM0162317619609449
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4NDE1 CL E G H54820614019Lissencephaly 4614019C3151461OMIM0162317619609449
HP:0001276HP:0012407Scissor gait4NDE1 CL E G H54820614019Lissencephaly 4614019C3151461OMIM0162317619609449
HP:0001276HP:0007199Progressive spastic paraparesis4NDP CL E G H4693649ORPHA02997678300658
HP:0001276HP:0007020Progressive spastic paraplegia4NDP CL E G H4693649ORPHA02997678300658
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4NDP CL E G H4693649ORPHA02997678300658
HP:0001276HP:0012407Scissor gait4NDP CL E G H4693649ORPHA02997678300658
HP:0001276HP:0007199Progressive spastic paraparesis4NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM06715911614154
HP:0001276HP:0007020Progressive spastic paraplegia4NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM06715911614154
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM06715911614154
HP:0001276HP:0012407Scissor gait4NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM06715911614154
HP:0001276HP:0007199Progressive spastic paraparesis4NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA031877881190198
HP:0001276HP:0007020Progressive spastic paraplegia4NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA031877881190198
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA031877881190198
HP:0001276HP:0012407Scissor gait4NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA031877881190198
HP:0001276HP:0007199Progressive spastic paraparesis4NPHP3 CL E G H27031267010Meckel syndrome type 7267010C2673885OMIM011067907608002
HP:0001276HP:0007020Progressive spastic paraplegia4NPHP3 CL E G H27031267010Meckel syndrome type 7267010C2673885OMIM011067907608002
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4NPHP3 CL E G H27031267010Meckel syndrome type 7267010C2673885OMIM011067907608002
HP:0001276HP:0012407Scissor gait4NPHP3 CL E G H27031267010Meckel syndrome type 7267010C2673885OMIM011067907608002
HP:0001276HP:0007199Progressive spastic paraparesis4NUP107 CL E G H571222065ORPHA024229914607617
HP:0001276HP:0007020Progressive spastic paraplegia4NUP107 CL E G H571222065ORPHA024229914607617
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4NUP107 CL E G H571222065ORPHA024229914607617
HP:0001276HP:0012407Scissor gait4NUP107 CL E G H571222065ORPHA024229914607617
HP:0001276HP:0007199Progressive spastic paraparesis4OSGEP CL E G H556442065ORPHA015218028610107
HP:0001276HP:0007020Progressive spastic paraplegia4OSGEP CL E G H556442065ORPHA015218028610107
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4OSGEP CL E G H556442065ORPHA015218028610107
HP:0001276HP:0012407Scissor gait4OSGEP CL E G H556442065ORPHA015218028610107
HP:0001276HP:0007199Progressive spastic paraparesis4POLG CL E G H5428254892ORPHA023249179174763
HP:0001276HP:0007020Progressive spastic paraplegia4POLG CL E G H5428254892ORPHA023249179174763
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4POLG CL E G H5428254892ORPHA023249179174763
HP:0001276HP:0012407Scissor gait4POLG CL E G H5428254892ORPHA023249179174763
HP:0001276HP:0007199Progressive spastic paraparesis4POLG2 CL E G H11232254892ORPHA03579180604983
HP:0001276HP:0007020Progressive spastic paraplegia4POLG2 CL E G H11232254892ORPHA03579180604983
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4POLG2 CL E G H11232254892ORPHA03579180604983
HP:0001276HP:0012407Scissor gait4POLG2 CL E G H11232254892ORPHA03579180604983
HP:0001276HP:0007199Progressive spastic paraparesis4PSPH CL E G H572379350ORPHA01899577172480
HP:0001276HP:0007020Progressive spastic paraplegia4PSPH CL E G H572379350ORPHA01899577172480
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4PSPH CL E G H572379350ORPHA01899577172480
HP:0001276HP:0012407Scissor gait4PSPH CL E G H572379350ORPHA01899577172480
HP:0001276HP:0007199Progressive spastic paraparesis4RAB27A CL E G H587379477ORPHA02989766603868
HP:0001276HP:0007020Progressive spastic paraplegia4RAB27A CL E G H587379477ORPHA02989766603868
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4RAB27A CL E G H587379477ORPHA02989766603868
HP:0001276HP:0012407Scissor gait4RAB27A CL E G H587379477ORPHA02989766603868
HP:0001276HP:0007199Progressive spastic paraparesis4RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA01865724147183
HP:0001276HP:0007020Progressive spastic paraplegia4RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA01865724147183
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA01865724147183
HP:0001276HP:0012407Scissor gait4RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA01865724147183
HP:0001276HP:0007199Progressive spastic paraparesis4RRM2B CL E G H50484254892ORPHA035417296604712
HP:0001276HP:0007020Progressive spastic paraplegia4RRM2B CL E G H50484254892ORPHA035417296604712
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4RRM2B CL E G H50484254892ORPHA035417296604712
HP:0001276HP:0012407Scissor gait4RRM2B CL E G H50484254892ORPHA035417296604712
HP:0001276HP:0007199Progressive spastic paraparesis4SCN4A CL E G H6329682ORPHA0176510591603967
HP:0001276HP:0007020Progressive spastic paraplegia4SCN4A CL E G H6329682ORPHA0176510591603967
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4SCN4A CL E G H6329682ORPHA0176510591603967
HP:0001276HP:0012407Scissor gait4SCN4A CL E G H6329682ORPHA0176510591603967
HP:0001276HP:0007199Progressive spastic paraparesis4SLC25A4 CL E G H291254892ORPHA033310990103220
HP:0001276HP:0007020Progressive spastic paraplegia4SLC25A4 CL E G H291254892ORPHA033310990103220
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4SLC25A4 CL E G H291254892ORPHA033310990103220
HP:0001276HP:0012407Scissor gait4SLC25A4 CL E G H291254892ORPHA033310990103220
HP:0001276HP:0007199Progressive spastic paraparesis4TBL1XR1 CL E G H79718602342Pierpont syndrome602342C1865644OMIM050229529608628
HP:0001276HP:0007020Progressive spastic paraplegia4TBL1XR1 CL E G H79718602342Pierpont syndrome602342C1865644OMIM050229529608628
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4TBL1XR1 CL E G H79718602342Pierpont syndrome602342C1865644OMIM050229529608628
HP:0001276HP:0012407Scissor gait4TBL1XR1 CL E G H79718602342Pierpont syndrome602342C1865644OMIM050229529608628
HP:0001276HP:0007199Progressive spastic paraparesis4TP53 CL E G H71572807ORPHA0297711998191170
HP:0001276HP:0007020Progressive spastic paraplegia4TP53 CL E G H71572807ORPHA0297711998191170
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4TP53 CL E G H71572807ORPHA0297711998191170
HP:0001276HP:0012407Scissor gait4TP53 CL E G H71572807ORPHA0297711998191170
HP:0001276HP:0007199Progressive spastic paraparesis4TP53RK CL E G H1128582065ORPHA07016197608679
HP:0001276HP:0007020Progressive spastic paraplegia4TP53RK CL E G H1128582065ORPHA07016197608679
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4TP53RK CL E G H1128582065ORPHA07016197608679
HP:0001276HP:0012407Scissor gait4TP53RK CL E G H1128582065ORPHA07016197608679
HP:0001276HP:0007199Progressive spastic paraparesis4TPRKB CL E G H510022065ORPHA04624259608680
HP:0001276HP:0007020Progressive spastic paraplegia4TPRKB CL E G H510022065ORPHA04624259608680
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4TPRKB CL E G H510022065ORPHA04624259608680
HP:0001276HP:0012407Scissor gait4TPRKB CL E G H510022065ORPHA04624259608680
HP:0001276HP:0007199Progressive spastic paraparesis4TTPA CL E G H727496ORPHA038912404600415
HP:0001276HP:0007020Progressive spastic paraplegia4TTPA CL E G H727496ORPHA038912404600415
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4TTPA CL E G H727496ORPHA038912404600415
HP:0001276HP:0012407Scissor gait4TTPA CL E G H727496ORPHA038912404600415
HP:0001276HP:0007199Progressive spastic paraparesis4TWNK CL E G H56652254892ORPHA04501160606075
HP:0001276HP:0007020Progressive spastic paraplegia4TWNK CL E G H56652254892ORPHA04501160606075
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4TWNK CL E G H56652254892ORPHA04501160606075
HP:0001276HP:0012407Scissor gait4TWNK CL E G H56652254892ORPHA04501160606075
HP:0001276HP:0007199Progressive spastic paraparesis4WDR4 CL E G H107852065ORPHA028212756605924
HP:0001276HP:0007020Progressive spastic paraplegia4WDR4 CL E G H107852065ORPHA028212756605924
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4WDR4 CL E G H107852065ORPHA028212756605924
HP:0001276HP:0012407Scissor gait4WDR4 CL E G H107852065ORPHA028212756605924
HP:0001276HP:0007199Progressive spastic paraparesis4WDR73 CL E G H849422065ORPHA022025928616144
HP:0001276HP:0007020Progressive spastic paraplegia4WDR73 CL E G H849422065ORPHA022025928616144
HP:0001276HP:0006983Slowly progressive spastic quadriparesis4WDR73 CL E G H849422065ORPHA022025928616144
HP:0001276HP:0012407Scissor gait4WDR73 CL E G H849422065ORPHA022025928616144


Genes (774) :AARS AARS2 AASS ABCA12 ABCA7 ABCC8 ABCD1 ABHD12 ACD ACER3 ACOX1 ACP2 ACP5 ACTA1 ADAM22 ADAR ADAT3 ADCY5 ADD3 ADGRG1 ADSL AFG3L2 AGA AGTPBP1 AIMP1 ALDH18A1 ALDH3A2 ALG11 ALG3 ALS2 AMACR AMPD2 ANG ANK3 ANKLE2 ANXA11 AP1S2 AP3B2 AP4B1 AP4E1 AP4M1 AP4S1 AP5Z1 APC APP ARF1 ARG1 ARHGAP31 ARHGEF9 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 AUTS2 B3GALNT2 B4GALNT1 B4GAT1 BAZ1B BCKDHA BCKDHB BCL11B BCOR BCS1L BEAN1 BICD2 BOLA3 BRAF BRAT1 BSCL2 BTD C12ORF65 C19ORF12 C9ORF72 CACNA1A CACNA1D CACNA1E CACNA1G CAMK2A CAPN1 CARS2 CASK CC2D2A CCDC88C CCNF CCT5 CDKL5 CFAP410 CHCHD10 CHMP1A CHMP2B CIT CKAP2L CLCF1 CLCN4 CLIC2 CLIP2 CLP1 CLPB CLTC CNKSR2 CNPY3 CNTNAP1 CNTNAP2 COA8 COASY COG2 COG4 COL4A1 COL4A2 COPB2 COQ2 COQ9 COX10 COX15 CP CPT1C CRLF1 CRYAB CSF1R CTC1 CTNNA2 CTNNB1 CTSD CYB5R3 CYFIP2 CYP27A1 CYP2U1 CYP7B1 DAB1 DAO DARS DARS2 DBT DCTN1 DCX DDB2 DDC DDHD1 DDHD2 DDX3X DENND5A DHCR24 DHCR7 DHDDS DKC1 DLD DLL4 DMPK DNAJC12 DNAJC13 DNAJC19 DNAJC6 DNM1 DNMT1 DOCK6 DPAGT1 DPYD DSTYK DYNC1H1 EARS2 EBP ECHS1 EDNRB EED EEF1A2 EIF2AK3 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 EIF2S3 EIF4G1 ELN ELOVL4 ELP2 EMC1 EML1 ENTPD1 EOGT EPCAM EPHA4 EPRS ERBB4 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERF ERLIN1 ERLIN2 EXOSC3 EXOSC8 EXOSC9 EYA1 EZH2 FA2H FAN1 FAR1 FARS2 FBXO7 FGF12 FGFR1 FIG4 FKRP FKTN FLNA FLRT1 FMR1 FOXG1 FOXRED1 FRMD4A FRMPD4 FRRS1L FTL FTO FUCA1 FUS FXN GABBR2 GABRB2 GAD1 GALC GAMT GAN GBA GBA2 GBE1 GCDH GCH1 GFAP GFM1 GIGYF2 GJA1 GJB1 GJC2 GLB1 GLE1 GLRA1 GLRB GLRX5 GLYCTK GM2A GMPPB GNAO1 GNB1 GPAA1 GPHN GPT2 GRIA4 GRIN1 GRIN2B GRIN2D GRM1 GSS GTF2I GTF2IRD1 GTPBP2 GUF1 HACE1 HCN1 HDAC8 HEPACAM HEXA HIKESHI HIST1H1E HLCS HMGCL HNRNPA1 HNRNPH2 HPRT1 HSD17B10 HSD17B4 HSPD1 HSPG2 HTRA1 HTRA2 HTT HUWE1 IARS IBA57 IDUA IFIH1 IKBKG INPP5K IRF2BPL ISCA1 ISCA2 ITM2B JAM3 JPH3 KANK1 KATNB1 KCNA1 KCNA2 KCNA4 KCNB1 KCND3 KCNJ6 KCNQ2 KCNQ3 KCNT1 KDM1A KDM5C KIDINS220 KIF11 KIF1A KIF1C KIF2A KIF5A KIF5C KLC2 KMT2A KMT2B KRAS KY KYNU L1CAM L2HGDH LAGE3 LAMB1 LARGE1 LBR LDHA LIAS LIMK1 LINGO1 LIPT1 LIPT2 LMNB1 LNPK LRRK2 LYRM7 LYST MAG MAN2B1 MAPT MARS MARS2 MATR3 MBOAT7 MCCC1 MCCC2 MCOLN1 MECP2 MECR MED17 MED25 MFF MFN2 MFSD2A MGAT2 MICOS13 MICU1 MIPEP MLC1 MLH1 MLH3 MME MOCS1 MOCS2 MORC2 MPDU1 MRE11 MRPS22 MRPS34 MSH2 MSH6 MTFMT MTO1 MTPAP MYO5A NAA10 NACC1 NADK2 NAGA NALCN NARS2 NDE1 NDP 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 NIPBL NKX6-2 NOP56 NOTCH1 NOTCH3 NPC1 NPC2 NPHP3 NR4A2 NSD1 NSUN2 NT5C2 NTNG1 NTRK2 NUBPL NUP107 NUP62 NUS1 OCLN OGDH OPA1 OPA3 OPHN1 OPTN OSGEP OSTM1 OTUD6B PAFAH1B1 PAH PANK2 PARK7 PARN PAX1 PAX3 PCBD1 PCCA PCCB PCDH12 PCLO PDE8B PDGFB PDGFRB PDHA1 PDHX PET100 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PFN1 PGAP1 PHACTR1 PHGDH PIGA PIGN PIGP PIK3CA PINK1 PITX3 PLA2G6 PLAA PLCB1 PLK4 PLP1 PLPBP PMPCA PMPCB PMS1 PMS2 PNKD PNP PNPLA6 PNPLA8 PNPO PODXL POLG POLG2 POLR1C POLR3A POLR3B POMGNT1 POMT1 POMT2 PON1 PON2 PON3 PPARGC1A PPP1R15B PPP3CA PPT1 PQBP1 PRDM8 PRF1 PRKCG PRKN PRNP PRPH PRRT2 PRUNE1 PSAP PSAT1 PSEN1 PSEN2 PSPH PTS PUM1 PYCR2 QDPR RAB11B RAB18 RAB27A RAB39B RAB3GAP1 RAB3GAP2 RAD21 RAD50 RANBP2 RARS RARS2 RBPJ REEP1 REEP2 REPS1 RETREG1 RFC2 RFT1 RHOBTB2 RLIM RNASEH2A RNASEH2B RNASEH2C RNASET2 RNU4ATAC ROGDI RPGRIP1L RPIA RPS6KA3 RRM2B RTEL1 RTN2 RTTN RUSC2 RYR1 SACS SAMHD1 SCN1B SCN2A SCN3A SCN4A SCN8A SCYL1 SDHA SDHAF1 SDHB SDHD SEPSECS SERAC1 SETBP1 SETD5 SETX SIGMAR1 SIL1 SIX6 SLC13A5 SLC16A2 SLC17A5 SLC18A2 SLC19A3 SLC1A2 SLC1A4 SLC20A2 SLC25A12 SLC25A15 SLC25A19 SLC25A22 SLC25A4 SLC2A1 SLC2A3 SLC30A10 SLC30A9 SLC33A1 SLC39A14 SLC52A2 SLC6A19 SLC6A3 SLC6A5 SLC6A8 SLC6A9 SMC1A SMC3 SMPD1 SNCA SNCAIP SNORD118 SNX14 SOD1 SON SORL1 SOX10 SOX2 SPART SPAST SPATA5 SPG11 SPG21 SPG7 SPR SPTAN1 SPTBN2 SQSTM1 STAMBP STN1 STUB1 STXBP1 SUCLA2 SUMF1 SUOX SURF1 SUZ12 SYNGAP1 SYNJ1 SZT2 TACO1 TAF1 TAF15 TAF2 TANGO2 TARDBP TARS2 TBC1D20 TBC1D23 TBCD TBCE TBK1 TBL1XR1 TBL2 TBP TCTN2 TDP1 TECPR2 TELO2 TERT TFG TGFBR2 TH TIMM50 TIMM8A TINF2 TK2 TMEM106B TMEM231 TMEM240 TMEM67 TMTC3 TNNT1 TOE1 TOMM40 TOR1A TP53 TP53RK TPI1 TPK1 TPRKB TRAF7 TRAK1 TRAPPC12 TREM2 TREX1 TRIT1 TRMT5 TRNF TRNI TRNK TRNL1 TRNP TSEN15 TSEN2 TSEN54 TTC19 TTPA TTR TUBA1A TUBB3 TUBB4A TUBG1 TUBGCP4 TUBGCP6 TUFM TWNK TXN2 TYROBP UBA5 UBQLN2 UBTF UCHL1 UFC1 UFM1 UNC13A UNC80 USP8 VAC14 VAMP1 VAPB VCP VPS11 VPS13C VPS13D VPS35 VPS37A VPS53 VWA3B WARS2 WASHC4 WASHC5 WDR26 WDR4 WDR45 WDR45B WDR48 WDR62 WDR73 WWOX XPA XPC YWHAG ZC4H2 ZFR ZFYVE26 ZFYVE27 ZNF335 ZNF592 ZSWIM6

Diseases (889) :1020 3322 2971 264470 161800 606854 610246 601110 974 300607 617020 308350 618011 306674 309400 615834 588 248600 115150 618056 614498 79241 617106 1545 613489 614654 48818 250800 2148 818 270400 273 617384 608093 274270 300960 226980 85282 144 1466 610758 3267 2792 277590 612938 245200 612736 85212 2072 149400 614619 272750 615351 617162 199 272800 617537 253270 300986 800 617248 85328 176500 37612 306 1949 79155 236800 2065 352723 617188 609260 212066 617228 616688 609180 79476 276432 300855 614019 649 615833 122470 614153 267010 31 79254 264070 610623 610217 617527 2518 617290 79096 610090 254892 203700 603553 611722 610992 79350 614023 261640 261630 79477 99736 99734 682 99735 607483 234500 613135 614618 52503 617301 611584 272300 602342 268130 617964 128100 256 2807 618164 96 617054 614898 617865 442835 616339 615889 242500 240800 612674 617762 617933 615010 615286 324588 606703 101109 208400 618276 616586 270200 300605 614307 615809 803 611895 615493 304340 614066 614067 618185 615926 309256 309263 401815 2508 3175 452 300215 314911 3197 617183 100984 100 314632 606693 300911 357074 565 301040 164400 183090 276241 276244 276238 109150 164500 98760 608768 615287 904 618092 256000 124000 217012 615290 614299 363400 615924 289560 614298 615043 401901 618087 618095 163937 300749 216360 3095 614961 600795 617090 3255 300886 411493 615803 616271 617854 618186 610042 615643 263501 175780 614483 617800 98933 227510 613869 221820 612199 610127 618008 909 213700 615281 611105 168605 300067 910 608643 101008 457260 300958 617281 35107 602398 617836 613861 2394 411602 391411 615528 314404 604121 616277 3447 603896 300148 133190 616875 600348 401810 617951 220295 278730 278780 278800 615681 209951 614678 618065 616154 171695 260300 2396 93256 613454 618241 466688 300983 616981 606159 95 617829 643 77260 230900 206583 25 231670 98808 233910 203450 609060 164200 608804 617493 488613 616973 617810 616281 614254 617820 616139 613970 617691 617988 617065 604004 613925 616881 246450 510 300322 600142 248111 399 143100 617435 617093 464 308300 559 618088 617613 616370 117300 613730 606438 616212 614959 85279 617296 2526 614255 397946 611302 617284 2182 1497 304100 307000 301006 612933 618103 99027 169500 618090 167 248500 260540 601104 611390 6 778 300260 312750 300673 617282 613668 616449 617086 617018 617664 618248 614702 33445 617393 616034 79279 609241 616239 618253 618247 618238 618239 252010 618229 617882 300912 617560 136 257220 607625 168600 611091 618242 271930 617082 1229 251290 125250 258501 300486 617729 216873 607236 234200 606324 606054 608027 228169 609161 213600 772 215100 614808 615802 300868 614080 617599 605909 199351 612953 521426 613722 213200 617954 98810 215470 251950 157640 258450 616494 607694 614381 253280 616817 617711 256730 309500 98763 600116 137440 603218 13 617931 616420 617807 2510 607624 613078 88619 616140 401849 617916 613115 612015 618004 300978 610333 610329 612951 2636 1946 226750 608611 614833 617773 145600 270550 612952 617350 466794 616719 252011 614739 798 614373 248800 615905 604369 617105 612949 99742 607196 609304 71277 606777 608885 309854 613280 617595 617013 238455 300352 257200 168601 614561 616354 105400 500150 163746 616577 602099 101001 70594 612716 352403 615386 617341 412057 615768 612073 272200 615530 615599 612069 615918 617695 98759 607136 616654 616954 101150 605407 617698 304700 2752 98773 617255 605355 617730 615512 614458 617731 618201 617669 2770 225750 617873 616539 545000 617026 612389 225753 105210 614039 612438 616811 221770 617132 617672 618076 617899 616801 401795 466934 616683 616840 607317 617710 615817 329284 300894 401800 83472 251300 616211 614322 278700 314580 615095 268700 200950 607944 51 225154 617008 103050 313772 447753 447760 447757 601162 816 613661 247604 293168 205100 607225 606353 616681 85335 280763 613744 612936 306511 613647 261584 309271 250100 309510 300004 615574 271900 496790 182600 617225 314978 363654 618012 309580 98761 67046 250950 101006 609195 617237 309800 100998 270685 320370 615474 618285 458803 616795 488594 616907 616672 256840 300114 617929 436271 435934 617395 444099 272430 618174 615075 320411 100986 270800 363710 609340 320380 66634 101003 614563 614924 614457 617270 401785 611225 616081 171629 612319 300048 157846 230000 349 603513 608013 320391 352641 614409 1175 320401 613206 230600 401866 616859 220120 615501 617864 266130 616756 300438 233400 100994 612233 605280 615330 615846 617404 612900 972 160120 618284 98772 607346 435628 614098 613720 616728 300534 610357 615411 604187 615282 79314 236792 169400 614462 616299 617668 615838 616680 314603 210200 210210 252650 300055 616486 497764 252150 252160 604391 611719 254343 615419 605013 618249 618237 600363 527497 320396 613162 617830 210000 616896 67036 259720 505237 617452 607432 216866 251280 245349 95433 401820 618298 79351 2671 601815 256600 99015 312920 613179 254886 726 447896 93947 324290 616640 282166 123400 98811 617481 249900 607822 614222 2379 311510 600118 401830 614225 438114 611523 101011 610250 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 612164 617389 300966 616878 615663 617193 496756 617207 94124 615031 607454 277470 611603 300570 615412 610678 617133 251282 329475 319199 615851 616948 100989 603563 617616 604317 401840 100996 270700 610244 300100 614487 260600 615686 90 207800 615685 513436 847 300166 320375 615035 369929 423275 616053 397725 616282 615030 615033 270750 277580 615683 617046 256850 231000 263570 2710 309246 477673 616451 93474 93473 609541 2466 303350 615191 459056 67047 401768 613672 431361 100988 896 148820 614877 617370 312080 139480 245800 610181 357043 238970 53583 601042 2822 248900 53351 431329 615658 614969 615157 615491 108600 617977 401805 401780 320360 139578 255241 320406 464282 468661 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.