Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of movement (HP:0100022)help
Parent Node:
expand
Dystonia (HP:0001332)help
..Starting node
..expand
Focal dystonia (HP:0004373)help
Term ID: 4373
Name: Focal dystonia
Synonym:
Definition: A type of dystonia that is localized to a specific part of the body.
Comments:
Reference: HP:0004373
Genes and Diseases:
 
       Child Nodes:
........expandWriter's cramp (HP:0002356) help
........expandLaryngeal dystonia (HP:0012049) help
........expandCraniofacial dystonia (HP:0012179) help
................... HP:0000473 Torticollis
................... HP:0000643 Blepharospasm
................... HP:0012048 Oromandibular dystonia
................... HP:0031007 Orofacial action-specific dystonia induced by speech
................... HP:0031008 Lingual dystonia

 Sister Nodes: 
..expandAxial dystonia (HP:0002530) help
..expandGeneralized dystonia (HP:0007325) help
..expandLimb dystonia (HP:0002451) help
..expandOculogyric crisis (HP:0010553) help
..expandParoxysmal dystonia (HP:0002268) help
..expandTorsion dystonia (HP:0001304) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0004373HP:0004373Focal dystonia0AARS1 CL E G H1620OMIM:616339Epileptic encephalopathy, early infantile, 29
HP:0004373HP:0004373Focal dystonia0AARS1 CL E G H1620OMIM:619691TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0004373HP:0004373Focal dystonia0ACTA1 CL E G H58129ORPHA:97240Zebra body myopathy96
HP:0004373HP:0004373Focal dystonia0ALDH18A1 CL E G H58329722ORPHA:447757Autosomal dominant spastic paraplegia type 9BHP:0040283 - Occasional89
HP:0004373HP:0004373Focal dystonia0ALG9 CL E G H7979615672ORPHA:79328ALG9-CDG93
HP:0004373HP:0004373Focal dystonia0ALS2 CL E G H57679443OMIM:205100Amyotrophic lateral sclerosis 2, juvenile114
HP:0004373HP:0004373Focal dystonia0ALS2 CL E G H57679443ORPHA:300605Juvenile amyotrophic lateral sclerosis114
HP:0004373HP:0004373Focal dystonia0ANO3 CL E G H6398214004ORPHA:420485Cranio-cervical dystonia with laryngeal and upper-limb involvement17
HP:0004373HP:0004373Focal dystonia0ANO3 CL E G H6398214004OMIM:615034Dystonia 2417
HP:0004373HP:0004373Focal dystonia0AOPEP CL E G H849091361OMIM:619565DYSTONIA 31; DYT31
HP:0004373HP:0004373Focal dystonia0ARX CL E G H17030218060OMIM:309510Partington syndrome166
HP:0004373HP:0004373Focal dystonia0ATN1 CL E G H18223033ORPHA:101Dentatorubral pallidoluysian atrophy16
HP:0004373HP:0004373Focal dystonia0ATP13A2 CL E G H2340030213ORPHA:306674Kufor-Rakeb syndrome100
HP:0004373HP:0004373Focal dystonia0ATP13A2 CL E G H2340030213OMIM:606693Kufor-Rakeb syndrome100
HP:0004373HP:0004373Focal dystonia0ATP1A3 CL E G H478801OMIM:128235Dystonia 12150
HP:0004373HP:0004373Focal dystonia0ATP1A3 CL E G H478801ORPHA:71517Rapid-onset dystonia-parkinsonism150
HP:0004373HP:0004373Focal dystonia0ATP5MC3 CL E G H518843OMIM:619681DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA; DYTSPG
HP:0004373HP:0004373Focal dystonia0B3GALT6 CL E G H12679217978ORPHA:536467B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome38
HP:0004373HP:0004373Focal dystonia0C19ORF12 CL E G H8363625443OMIM:614298Neurodegeneration with brain iron accumulation 4114
HP:0004373HP:0004373Focal dystonia0CACNA1A CL E G H7731388ORPHA:71518Benign paroxysmal torticollis of infancy449
HP:0004373HP:0004373Focal dystonia0CACNA1A CL E G H7731388ORPHA:97Familial paroxysmal ataxia449
HP:0004373HP:0004373Focal dystonia0CACNA1A CL E G H7731388ORPHA:98758Spinocerebellar ataxia type 6449
HP:0004373HP:0004373Focal dystonia0CASR CL E G H8461514ORPHA:428Autosomal dominant hypocalcemia272
HP:0004373HP:0004373Focal dystonia0CDK10 CL E G H85581770OMIM:617694Al Kaissi syndrome2
HP:0004373HP:0004373Focal dystonia0CEP85L CL E G H38711921638OMIM:618873LISSENCEPHALY 10; LIS101
HP:0004373HP:0004373Focal dystonia0CHN1 CL E G H11231943ORPHA:233Duane retraction syndrome35
HP:0004373HP:0004373Focal dystonia0CIZ1 CL E G H2579216744ORPHA:420492Adult-onset cervical dystonia, DYT23 typeHP:0040282 - Frequent16
HP:0004373HP:0004373Focal dystonia0CNP CL E G H12672158OMIM:619071LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20
HP:0004373HP:0004373Focal dystonia0COASY CL E G H8034729932ORPHA:397725COASY protein-associated neurodegeneration16
HP:0004373HP:0004373Focal dystonia0COASY CL E G H8034729932OMIM:615643Neurodegeneration with brain iron accumulation 616
HP:0004373HP:0004373Focal dystonia0COL12A1 CL E G H13032188ORPHA:75840Congenital muscular dystrophy, Ullrich type65
HP:0004373HP:0004373Focal dystonia0COL6A1 CL E G H12912211OMIM:158810Bethlem myopathy 1442
HP:0004373HP:0004373Focal dystonia0COL6A1 CL E G H12912211ORPHA:75840Congenital muscular dystrophy, Ullrich type442
HP:0004373HP:0004373Focal dystonia0COL6A1 CL E G H12912211OMIM:254090Ullrich congenital muscular dystrophy 1442
HP:0004373HP:0004373Focal dystonia0COL6A2 CL E G H12922212OMIM:158810Bethlem myopathy 1478
HP:0004373HP:0004373Focal dystonia0COL6A2 CL E G H12922212ORPHA:75840Congenital muscular dystrophy, Ullrich type478
HP:0004373HP:0004373Focal dystonia0COL6A2 CL E G H12922212OMIM:254090Ullrich congenital muscular dystrophy 1478
HP:0004373HP:0004373Focal dystonia0COL6A3 CL E G H12932213OMIM:158810Bethlem myopathy 1702
HP:0004373HP:0004373Focal dystonia0COL6A3 CL E G H12932213ORPHA:75840Congenital muscular dystrophy, Ullrich type702
HP:0004373HP:0004373Focal dystonia0COL6A3 CL E G H12932213OMIM:616411Dystonia 27702
HP:0004373HP:0004373Focal dystonia0COL6A3 CL E G H12932213ORPHA:464440Primary dystonia, DYT27 typeHP:0040282 - Frequent702
HP:0004373HP:0004373Focal dystonia0COL6A3 CL E G H12932213OMIM:254090Ullrich congenital muscular dystrophy 1702
HP:0004373HP:0004373Focal dystonia0COLEC11 CL E G H7898917213OMIM:2650503mc syndrome 29
HP:0004373HP:0004373Focal dystonia0COX20 CL E G H11622826970OMIM:619054MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN1125
HP:0004373HP:0004373Focal dystonia0CP CL E G H13562295ORPHA:48818Aceruloplasminemia115
HP:0004373HP:0004373Focal dystonia0CP CL E G H13562295OMIM:604290ACERULOPLASMINEMIA115
HP:0004373HP:0004373Focal dystonia0CPLX1 CL E G H108152309ORPHA:352582Familial infantile myoclonic epilepsy1
HP:0004373HP:0004373Focal dystonia0DDC CL E G H16442719OMIM:608643Aromatic L-amino acid decarboxylase deficiency43
HP:0004373HP:0004373Focal dystonia0DRD2 CL E G H18133023ORPHA:36899Myoclonus-dystonia syndrome16
HP:0004373HP:0004373Focal dystonia0DRD5 CL E G H18163026OMIM:606798Blepharospasm, benign essential, susceptibility to3
HP:0004373HP:0004373Focal dystonia0FGFR2 CL E G H22633689ORPHA:794Saethre-Chotzen syndrome175
HP:0004373HP:0004373Focal dystonia0FGFR3 CL E G H22613690ORPHA:794Saethre-Chotzen syndrome145
HP:0004373HP:0004373Focal dystonia0FLI1 CL E G H23133749ORPHA:370348Peripheral primitive neuroectodermal tumor8
HP:0004373HP:0004373Focal dystonia0FTL CL E G H25123999OMIM:606159Neurodegeneration with brain iron accumulation 333
HP:0004373HP:0004373Focal dystonia0FTL CL E G H25123999ORPHA:157846NeuroferritinopathyHP:0040282 - Frequent33
HP:0004373HP:0004373Focal dystonia0FUS CL E G H25214010ORPHA:300605Juvenile amyotrophic lateral sclerosis105
HP:0004373HP:0004373Focal dystonia0GCH1 CL E G H26434193ORPHA:98808Autosomal dominant dopa-responsive dystoniaHP:0040282 - Frequent86
HP:0004373HP:0004373Focal dystonia0GCH1 CL E G H26434193OMIM:128230Dystonia, DOPA-responsive, with or without hyperphenylalaninemia86
HP:0004373HP:0004373Focal dystonia0GDAP2 CL E G H5483418010OMIM:618369Spinocerebellar ataxia, autosomal recessive 27
HP:0004373HP:0004373Focal dystonia0GNA11 CL E G H27674379ORPHA:428Autosomal dominant hypocalcemia16
HP:0004373HP:0004373Focal dystonia0GNAL CL E G H27744388ORPHA:329466Autosomal dominant focal dystonia, DYT25 typeHP:0040281 - Very frequent13
HP:0004373HP:0004373Focal dystonia0GNAL CL E G H27744388OMIM:615073Dystonia 2513
HP:0004373HP:0004373Focal dystonia0GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1A101
HP:0004373HP:0004373Focal dystonia0GNAS CL E G H27784392ORPHA:94089Pseudohypoparathyroidism type 1B101
HP:0004373HP:0004373Focal dystonia0GNAS CL E G H27784392ORPHA:79444Pseudohypoparathyroidism type 1C101
HP:0004373HP:0004373Focal dystonia0HEXB CL E G H30744879ORPHA:309169Sandhoff disease, adult form80
HP:0004373HP:0004373Focal dystonia0HINT1 CL E G H30944912ORPHA:324442Autosomal recessive axonal neuropathy with neuromyotonia12
HP:0004373HP:0004373Focal dystonia0HK1 CL E G H30984922OMIM:618547NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA11
HP:0004373HP:0004373Focal dystonia0HPCA CL E G H32085144OMIM:224500Dystonia 2, torsion, autosomal recessive4
HP:0004373HP:0004373Focal dystonia0HPCA CL E G H32085144ORPHA:99657Primary dystonia, DYT2 type4
HP:0004373HP:0004373Focal dystonia0HSPG2 CL E G H33395273ORPHA:800Schwartz-Jampel syndrome345
HP:0004373HP:0004373Focal dystonia0IMPDH2 CL E G H36156053ORPHA:98808Autosomal dominant dopa-responsive dystoniaHP:0040282 - Frequent1
HP:0004373HP:0004373Focal dystonia0ITGA7 CL E G H36796143OMIM:613204Muscular dystrophy, congenital, due to integrin alpha-7 deficiency127
HP:0004373HP:0004373Focal dystonia0KCNA1 CL E G H37366218ORPHA:98809Paroxysmal kinesigenic dyskinesia145
HP:0004373HP:0004373Focal dystonia0KCNC3 CL E G H37486235ORPHA:98768Spinocerebellar ataxia type 1317
HP:0004373HP:0004373Focal dystonia0KCNN2 CL E G H37816291OMIM:619724DYSTONIA 34, MYOCLONIC; DYT34
HP:0004373HP:0004373Focal dystonia0KCTD17 CL E G H7973425705OMIM:616398Dystonia 26, myoclonic1
HP:0004373HP:0004373Focal dystonia0KCTD17 CL E G H7973425705ORPHA:36899Myoclonus-dystonia syndrome1
HP:0004373HP:0004373Focal dystonia0KIF1C CL E G H107496317ORPHA:397946Autosomal spastic paraplegia type 5838
HP:0004373HP:0004373Focal dystonia0KMT2B CL E G H975715840ORPHA:589618Dystonia 2811
HP:0004373HP:0004373Focal dystonia0KMT2B CL E G H975715840OMIM:617284Dystonia 28, childhood-onset11
HP:0004373HP:0004373Focal dystonia0MAFB CL E G H99356408ORPHA:233Duane retraction syndrome63
HP:0004373HP:0004373Focal dystonia0MAPT CL E G H41376893ORPHA:240071Classic progressive supranuclear palsy syndrome140
HP:0004373HP:0004373Focal dystonia0MAPT CL E G H41376893ORPHA:240103Progressive supranuclear palsy-corticobasal syndromeHP:0040281 - Very frequent140
HP:0004373HP:0004373Focal dystonia0MAPT CL E G H41376893ORPHA:240094Progressive supranuclear palsy-pure akinesia with gait freezing syndrome140
HP:0004373HP:0004373Focal dystonia0MAPT CL E G H41376893OMIM:601104Supranuclear palsy, progressive, 1140
HP:0004373HP:0004373Focal dystonia0MECR CL E G H5110219691OMIM:617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities6
HP:0004373HP:0004373Focal dystonia0MECR CL E G H5110219691ORPHA:508093MEPAN syndrome6
HP:0004373HP:0004373Focal dystonia0MYF5 CL E G H46177565OMIM:618155Ophthalmoplegia, external, with rib and vertebral anomalies
HP:0004373HP:0004373Focal dystonia0NAA10 CL E G H826018704OMIM:300855Ogden syndrome23
HP:0004373HP:0004373Focal dystonia0NAA10 CL E G H826018704ORPHA:276432Ogden syndrome23
HP:0004373HP:0004373Focal dystonia0NAXE CL E G H12824018453OMIM:617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 19
HP:0004373HP:0004373Focal dystonia0NDUFA6 CL E G H47007690OMIM:618253Mitochondrial complex I deficiency, nuclear type 331
HP:0004373HP:0004373Focal dystonia0NEK9 CL E G H9175418591OMIM:617022Lethal congenital contracture syndrome 109
HP:0004373HP:0004373Focal dystonia0NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndrome32
HP:0004373HP:0004373Focal dystonia0NKX6-2 CL E G H8450419321OMIM:617560Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy2
HP:0004373HP:0004373Focal dystonia0NR4A2 CL E G H49297981ORPHA:98808Autosomal dominant dopa-responsive dystoniaHP:0040282 - Frequent27
HP:0004373HP:0004373Focal dystonia0PANK2 CL E G H8002515894ORPHA:216873Atypical pantothenate kinase-associated neurodegenerationHP:0040282 - Frequent55
HP:0004373HP:0004373Focal dystonia0PANK2 CL E G H8002515894OMIM:234200Neurodegeneration with brain iron accumulation 155
HP:0004373HP:0004373Focal dystonia0PARK7 CL E G H1131516369OMIM:606324PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK723
HP:0004373HP:0004373Focal dystonia0PCGF2 CL E G H770312929OMIM:618371Turnpenny-Fry syndrome
HP:0004373HP:0004373Focal dystonia0PLA2G6 CL E G H83989039ORPHA:199351Adult-onset dystonia-parkinsonismHP:0040282 - Frequent133
HP:0004373HP:0004373Focal dystonia0PLP1 CL E G H53549086OMIM:312080Pelizaeus-Merzbacher disease60
HP:0004373HP:0004373Focal dystonia0PNKD CL E G H259539153ORPHA:98810Paroxysmal non-kinesigenic dyskinesia66
HP:0004373HP:0004373Focal dystonia0PNKD CL E G H259539153OMIM:118800Paroxysmal nonkinesigenic dyskinesia 166
HP:0004373HP:0004373Focal dystonia0POLR1B CL E G H8417220454ORPHA:861Treacher-Collins syndrome
HP:0004373HP:0004373Focal dystonia0POLR1C CL E G H953320194ORPHA:861Treacher-Collins syndrome38
HP:0004373HP:0004373Focal dystonia0POLR1D CL E G H5108220422ORPHA:861Treacher-Collins syndrome31
HP:0004373HP:0004373Focal dystonia0PRDX3 CL E G H109359354OMIM:619862
HP:0004373HP:0004373Focal dystonia0PRKAR1B CL E G H55759390OMIM:619680MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS2
HP:0004373HP:0004373Focal dystonia0PRKCG CL E G H55829402OMIM:605361Spinocerebellar ataxia 14.83
HP:0004373HP:0004373Focal dystonia0PRKRA CL E G H85759438OMIM:612067Dystonia 1637
HP:0004373HP:0004373Focal dystonia0PRKRA CL E G H85759438ORPHA:210571Dystonia 1637
HP:0004373HP:0004373Focal dystonia0PRRT2 CL E G H11247630500ORPHA:98809Paroxysmal kinesigenic dyskinesia94
HP:0004373HP:0004373Focal dystonia0PRRT2 CL E G H11247630500ORPHA:98810Paroxysmal non-kinesigenic dyskinesia94
HP:0004373HP:0004373Focal dystonia0REEP1 CL E G H6505525786OMIM:62001187
HP:0004373HP:0004373Focal dystonia0RNF170 CL E G H8179025358OMIM:619686SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG853
HP:0004373HP:0004373Focal dystonia0ROBO3 CL E G H6422113433OMIM:607313Gaze palsy, familial horizontal, with progressive scoliosis, 190
HP:0004373HP:0004373Focal dystonia0SALL4 CL E G H5716715924ORPHA:233Duane retraction syndrome86
HP:0004373HP:0004373Focal dystonia0SCP2 CL E G H634210606OMIM:613724Leukoencephalopathy with dystonia and motor neuropathy4
HP:0004373HP:0004373Focal dystonia0SGCE CL E G H891010808OMIM:159900Dystonia 11, myoclonic49
HP:0004373HP:0004373Focal dystonia0SGCE CL E G H891010808ORPHA:36899Myoclonus-dystonia syndrome49
HP:0004373HP:0004373Focal dystonia0SIGMAR1 CL E G H102808157ORPHA:300605Juvenile amyotrophic lateral sclerosis6
HP:0004373HP:0004373Focal dystonia0SLC19A3 CL E G H8070416266OMIM:607483Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)110
HP:0004373HP:0004373Focal dystonia0SLC39A14 CL E G H2351620858ORPHA:521406Dystonia-parkinsonism-hypermanganesemia syndrome5
HP:0004373HP:0004373Focal dystonia0SLC39A14 CL E G H2351620858OMIM:617013Hypermanganesemia with dystonia 25
HP:0004373HP:0004373Focal dystonia0SLC6A3 CL E G H653111049OMIM:613135Parkinsonism-Dystonia, infantile, 113
HP:0004373HP:0004373Focal dystonia0SOX10 CL E G H666311190OMIM:609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease61
HP:0004373HP:0004373Focal dystonia0SPG11 CL E G H8020811226ORPHA:300605Juvenile amyotrophic lateral sclerosis287
HP:0004373HP:0004373Focal dystonia0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0004373HP:0004373Focal dystonia0SPTLC1 CL E G H1055811277ORPHA:300605Juvenile amyotrophic lateral sclerosis54
HP:0004373HP:0004373Focal dystonia0STARD7 CL E G H5691018063OMIM:607876Epilepsy, familial adult myoclonic, 2
HP:0004373HP:0004373Focal dystonia0STX16 CL E G H867511431ORPHA:94089Pseudohypoparathyroidism type 1B86
HP:0004373HP:0004373Focal dystonia0SUPT16H CL E G H1119811465OMIM:619480NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0004373HP:0004373Focal dystonia0SYNGAP1 CL E G H883111497OMIM:612621Mental retardation, autosomal dominant 5108
HP:0004373HP:0004373Focal dystonia0TAF1 CL E G H687211535ORPHA:53351X-linked dystonia-parkinsonismHP:0040282 - Frequent21
HP:0004373HP:0004373Focal dystonia0TBC1D24 CL E G H5746529203OMIM:608105Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp271
HP:0004373HP:0004373Focal dystonia0TBC1D24 CL E G H5746529203ORPHA:352582Familial infantile myoclonic epilepsy271
HP:0004373HP:0004373Focal dystonia0TBC1D24 CL E G H5746529203ORPHA:163727Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome271
HP:0004373HP:0004373Focal dystonia0TBP CL E G H690811588ORPHA:98759Spinocerebellar ataxia type 177
HP:0004373HP:0004373Focal dystonia0TCOF1 CL E G H694911654ORPHA:861Treacher-Collins syndrome140
HP:0004373HP:0004373Focal dystonia0TGFB2 CL E G H704211768OMIM:614816LOEYS-DIETZ SYNDROME 4; LDS4162
HP:0004373HP:0004373Focal dystonia0TGM6 CL E G H34364116255OMIM:613908Spinocerebellar ataxia 3558
HP:0004373HP:0004373Focal dystonia0TGM6 CL E G H34364116255ORPHA:276193Spinocerebellar ataxia type 3558
HP:0004373HP:0004373Focal dystonia0TH CL E G H705411782ORPHA:101150Autosomal recessive dopa-responsive dystoniaHP:0040282 - Frequent80
HP:0004373HP:0004373Focal dystonia0THAP1 CL E G H5514520856OMIM:602629Dystonia 6, torsion42
HP:0004373HP:0004373Focal dystonia0THAP1 CL E G H5514520856ORPHA:98806Primary dystonia, DYT6 type42
HP:0004373HP:0004373Focal dystonia0TIMM8A CL E G H167811817ORPHA:52368Mohr-Tranebjaerg syndromeHP:0040283 - Occasional15
HP:0004373HP:0004373Focal dystonia0TOR1A CL E G H18613098OMIM:128100Dystonia 1, torsion, autosomal dominant47
HP:0004373HP:0004373Focal dystonia0TOR1A CL E G H18613098ORPHA:36899Myoclonus-dystonia syndrome47
HP:0004373HP:0004373Focal dystonia0TRPV4 CL E G H5934118083OMIM:181405Scapuloperoneal spinal muscular atrophy214
HP:0004373HP:0004373Focal dystonia0TSPOAP1 CL E G H925616831ORPHA:101150Autosomal recessive dopa-responsive dystoniaHP:0040282 - Frequent2
HP:0004373HP:0004373Focal dystonia0TUBB3 CL E G H1038120772ORPHA:300570Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation64
HP:0004373HP:0004373Focal dystonia0TUBB4A CL E G H1038220774OMIM:128101Dystonia 4, torsion, autosomal dominant66
HP:0004373HP:0004373Focal dystonia0TUBB4A CL E G H1038220774ORPHA:98805Primary dystonia, DYT4 type66
HP:0004373HP:0004373Focal dystonia0TWIST1 CL E G H729112428ORPHA:794Saethre-Chotzen syndrome18
HP:0004373HP:0004373Focal dystonia0VAC14 CL E G H5569725507OMIM:617054Striatonigral degeneration, childhood-onset6
HP:0004373HP:0004373Focal dystonia0VPS11 CL E G H5582314583OMIM:619637DYSTONIA 32; DYT321
HP:0004373HP:0004373Focal dystonia0VPS13A CL E G H232301908ORPHA:2388Choreoacanthocytosis130
HP:0004373HP:0004373Focal dystonia0VPS16 CL E G H6460114584OMIM:619291DYSTONIA 30; DYT30
HP:0004373HP:0004373Focal dystonia0ZNF142 CL E G H770112927OMIM:618425Neurodevelopmental disorder with impaired speech and hyperkinetic movements
HP:0004373HP:0012179Craniofacial dystonia1AARS1 CL E G H1620OMIM:616339Epileptic encephalopathy, early infantile, 29
HP:0004373HP:0012179Craniofacial dystonia1AARS1 CL E G H1620OMIM:619691TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0004373HP:0012179Craniofacial dystonia1ACTA1 CL E G H58129ORPHA:97240Zebra body myopathy96
HP:0004373HP:0012179Craniofacial dystonia1ALG9 CL E G H7979615672ORPHA:79328ALG9-CDG93
HP:0004373HP:0012179Craniofacial dystonia1ALS2 CL E G H57679443OMIM:205100Amyotrophic lateral sclerosis 2, juvenile114
HP:0004373HP:0012179Craniofacial dystonia1ALS2 CL E G H57679443ORPHA:300605Juvenile amyotrophic lateral sclerosis114
HP:0004373HP:0012179Craniofacial dystonia1ANO3 CL E G H6398214004ORPHA:420485Cranio-cervical dystonia with laryngeal and upper-limb involvement17
HP:0004373HP:0012179Craniofacial dystonia1ANO3 CL E G H6398214004OMIM:615034Dystonia 2417
HP:0004373HP:0002356Writer's cramp1AOPEP CL E G H849091361OMIM:619565DYSTONIA 31; DYT31
HP:0004373HP:0012179Craniofacial dystonia1AOPEP CL E G H849091361OMIM:619565DYSTONIA 31; DYT31
HP:0004373HP:0012179Craniofacial dystonia1ATN1 CL E G H18223033ORPHA:101Dentatorubral pallidoluysian atrophy16
HP:0004373HP:0012179Craniofacial dystonia1ATP13A2 CL E G H2340030213OMIM:606693Kufor-Rakeb syndrome100
HP:0004373HP:0012179Craniofacial dystonia1ATP13A2 CL E G H2340030213ORPHA:306674Kufor-Rakeb syndrome100
HP:0004373HP:0012179Craniofacial dystonia1ATP1A3 CL E G H478801OMIM:128235Dystonia 12150
HP:0004373HP:0012179Craniofacial dystonia1ATP1A3 CL E G H478801ORPHA:71517Rapid-onset dystonia-parkinsonismHP:0040282 - Frequent150
HP:0004373HP:0012049Laryngeal dystonia1ATP5MC3 CL E G H518843OMIM:619681DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA; DYTSPG
HP:0004373HP:0012179Craniofacial dystonia1B3GALT6 CL E G H12679217978ORPHA:536467B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome38
HP:0004373HP:0012179Craniofacial dystonia1C19ORF12 CL E G H8363625443OMIM:614298Neurodegeneration with brain iron accumulation 4114
HP:0004373HP:0012179Craniofacial dystonia1CACNA1A CL E G H7731388ORPHA:71518Benign paroxysmal torticollis of infancy449
HP:0004373HP:0012179Craniofacial dystonia1CACNA1A CL E G H7731388ORPHA:97Familial paroxysmal ataxia449
HP:0004373HP:0012179Craniofacial dystonia1CACNA1A CL E G H7731388ORPHA:98758Spinocerebellar ataxia type 6449
HP:0004373HP:0002356Writer's cramp1CASR CL E G H8461514ORPHA:428Autosomal dominant hypocalcemiaHP:0040281 - Very frequent272
HP:0004373HP:0012179Craniofacial dystonia1CDK10 CL E G H85581770OMIM:617694Al Kaissi syndrome2
HP:0004373HP:0012179Craniofacial dystonia1CEP85L CL E G H38711921638OMIM:618873LISSENCEPHALY 10; LIS101
HP:0004373HP:0012179Craniofacial dystonia1CHN1 CL E G H11231943ORPHA:233Duane retraction syndrome35
HP:0004373HP:0002356Writer's cramp1CIZ1 CL E G H2579216744ORPHA:420492Adult-onset cervical dystonia, DYT23 typeHP:0040282 - Frequent16
HP:0004373HP:0012179Craniofacial dystonia1CIZ1 CL E G H2579216744ORPHA:420492Adult-onset cervical dystonia, DYT23 typeHP:0040282 - Frequent16
HP:0004373HP:0012179Craniofacial dystonia1CNP CL E G H12672158OMIM:619071LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20
HP:0004373HP:0012179Craniofacial dystonia1COASY CL E G H8034729932ORPHA:397725COASY protein-associated neurodegeneration16
HP:0004373HP:0012179Craniofacial dystonia1COASY CL E G H8034729932OMIM:615643Neurodegeneration with brain iron accumulation 616
HP:0004373HP:0012179Craniofacial dystonia1COL12A1 CL E G H13032188ORPHA:75840Congenital muscular dystrophy, Ullrich type65
HP:0004373HP:0012179Craniofacial dystonia1COL6A1 CL E G H12912211OMIM:158810Bethlem myopathy 1442
HP:0004373HP:0012179Craniofacial dystonia1COL6A1 CL E G H12912211ORPHA:75840Congenital muscular dystrophy, Ullrich type442
HP:0004373HP:0012179Craniofacial dystonia1COL6A1 CL E G H12912211OMIM:254090Ullrich congenital muscular dystrophy 1442
HP:0004373HP:0012179Craniofacial dystonia1COL6A2 CL E G H12922212OMIM:158810Bethlem myopathy 1478
HP:0004373HP:0012179Craniofacial dystonia1COL6A2 CL E G H12922212ORPHA:75840Congenital muscular dystrophy, Ullrich type478
HP:0004373HP:0012179Craniofacial dystonia1COL6A2 CL E G H12922212OMIM:254090Ullrich congenital muscular dystrophy 1478
HP:0004373HP:0012179Craniofacial dystonia1COL6A3 CL E G H12932213OMIM:158810Bethlem myopathy 1702
HP:0004373HP:0012179Craniofacial dystonia1COL6A3 CL E G H12932213ORPHA:75840Congenital muscular dystrophy, Ullrich type702
HP:0004373HP:0012179Craniofacial dystonia1COL6A3 CL E G H12932213OMIM:616411Dystonia 27702
HP:0004373HP:0002356Writer's cramp1COL6A3 CL E G H12932213OMIM:616411Dystonia 27.702
HP:0004373HP:0012049Laryngeal dystonia1COL6A3 CL E G H12932213OMIM:616411Dystonia 27.702
HP:0004373HP:0002356Writer's cramp1COL6A3 CL E G H12932213ORPHA:464440Primary dystonia, DYT27 typeHP:0040282 - Frequent702
HP:0004373HP:0012179Craniofacial dystonia1COL6A3 CL E G H12932213ORPHA:464440Primary dystonia, DYT27 type702
HP:0004373HP:0012049Laryngeal dystonia1COL6A3 CL E G H12932213ORPHA:464440Primary dystonia, DYT27 typeHP:0040281 - Very frequent702
HP:0004373HP:0012179Craniofacial dystonia1COL6A3 CL E G H12932213OMIM:254090Ullrich congenital muscular dystrophy 1702
HP:0004373HP:0012179Craniofacial dystonia1COLEC11 CL E G H7898917213OMIM:2650503mc syndrome 29
HP:0004373HP:0012179Craniofacial dystonia1COX20 CL E G H11622826970OMIM:619054MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN1125
HP:0004373HP:0012179Craniofacial dystonia1CP CL E G H13562295ORPHA:48818AceruloplasminemiaHP:0040283 - Occasional115
HP:0004373HP:0012179Craniofacial dystonia1CP CL E G H13562295OMIM:604290ACERULOPLASMINEMIA115
HP:0004373HP:0012179Craniofacial dystonia1CPLX1 CL E G H108152309ORPHA:352582Familial infantile myoclonic epilepsy1
HP:0004373HP:0012179Craniofacial dystonia1DDC CL E G H16442719OMIM:608643Aromatic L-amino acid decarboxylase deficiency43
HP:0004373HP:0012179Craniofacial dystonia1DRD2 CL E G H18133023ORPHA:36899Myoclonus-dystonia syndrome16
HP:0004373HP:0002356Writer's cramp1DRD2 CL E G H18133023ORPHA:36899Myoclonus-dystonia syndromeHP:0040282 - Frequent16
HP:0004373HP:0012179Craniofacial dystonia1DRD5 CL E G H18163026OMIM:606798Blepharospasm, benign essential, susceptibility to3
HP:0004373HP:0012179Craniofacial dystonia1FGFR2 CL E G H22633689ORPHA:794Saethre-Chotzen syndrome175
HP:0004373HP:0012179Craniofacial dystonia1FGFR3 CL E G H22613690ORPHA:794Saethre-Chotzen syndrome145
HP:0004373HP:0012179Craniofacial dystonia1FLI1 CL E G H23133749ORPHA:370348Peripheral primitive neuroectodermal tumor8
HP:0004373HP:0002356Writer's cramp1FTL CL E G H25123999OMIM:606159Neurodegeneration with brain iron accumulation 3.33
HP:0004373HP:0012179Craniofacial dystonia1FTL CL E G H25123999OMIM:606159Neurodegeneration with brain iron accumulation 333
HP:0004373HP:0012049Laryngeal dystonia1FTL CL E G H25123999OMIM:606159Neurodegeneration with brain iron accumulation 3.33
HP:0004373HP:0002356Writer's cramp1FTL CL E G H25123999ORPHA:157846NeuroferritinopathyHP:0040283 - Occasional33
HP:0004373HP:0012179Craniofacial dystonia1FTL CL E G H25123999ORPHA:157846Neuroferritinopathy33
HP:0004373HP:0012179Craniofacial dystonia1FUS CL E G H25214010ORPHA:300605Juvenile amyotrophic lateral sclerosis105
HP:0004373HP:0012179Craniofacial dystonia1GCH1 CL E G H26434193ORPHA:98808Autosomal dominant dopa-responsive dystonia86
HP:0004373HP:0012179Craniofacial dystonia1GCH1 CL E G H26434193OMIM:128230Dystonia, DOPA-responsive, with or without hyperphenylalaninemia86
HP:0004373HP:0002356Writer's cramp1GCH1 CL E G H26434193OMIM:128230Dystonia, DOPA-responsive, with or without hyperphenylalaninemia.86
HP:0004373HP:0012179Craniofacial dystonia1GDAP2 CL E G H5483418010OMIM:618369Spinocerebellar ataxia, autosomal recessive 27
HP:0004373HP:0002356Writer's cramp1GNA11 CL E G H27674379ORPHA:428Autosomal dominant hypocalcemiaHP:0040281 - Very frequent16
HP:0004373HP:0012179Craniofacial dystonia1GNAL CL E G H27744388ORPHA:329466Autosomal dominant focal dystonia, DYT25 typeHP:0040282 - Frequent13
HP:0004373HP:0012049Laryngeal dystonia1GNAL CL E G H27744388ORPHA:329466Autosomal dominant focal dystonia, DYT25 typeHP:0040282 - Frequent13
HP:0004373HP:0012179Craniofacial dystonia1GNAL CL E G H27744388OMIM:615073Dystonia 2513
HP:0004373HP:0012049Laryngeal dystonia1GNAL CL E G H27744388OMIM:615073Dystonia 25.13
HP:0004373HP:0012049Laryngeal dystonia1GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1AHP:0040283 - Occasional101
HP:0004373HP:0012049Laryngeal dystonia1GNAS CL E G H27784392ORPHA:94089Pseudohypoparathyroidism type 1BHP:0040283 - Occasional101
HP:0004373HP:0012049Laryngeal dystonia1GNAS CL E G H27784392ORPHA:79444Pseudohypoparathyroidism type 1CHP:0040283 - Occasional101
HP:0004373HP:0002356Writer's cramp1HINT1 CL E G H30944912ORPHA:324442Autosomal recessive axonal neuropathy with neuromyotoniaHP:0040283 - Occasional12
HP:0004373HP:0012179Craniofacial dystonia1HK1 CL E G H30984922OMIM:618547NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA11
HP:0004373HP:0012179Craniofacial dystonia1HPCA CL E G H32085144OMIM:224500Dystonia 2, torsion, autosomal recessive4
HP:0004373HP:0012179Craniofacial dystonia1HPCA CL E G H32085144ORPHA:99657Primary dystonia, DYT2 type4
HP:0004373HP:0012179Craniofacial dystonia1HSPG2 CL E G H33395273ORPHA:800Schwartz-Jampel syndrome345
HP:0004373HP:0012179Craniofacial dystonia1IMPDH2 CL E G H36156053ORPHA:98808Autosomal dominant dopa-responsive dystonia1
HP:0004373HP:0012179Craniofacial dystonia1ITGA7 CL E G H36796143OMIM:613204Muscular dystrophy, congenital, due to integrin alpha-7 deficiency127
HP:0004373HP:0002356Writer's cramp1KCNA1 CL E G H37366218ORPHA:98809Paroxysmal kinesigenic dyskinesiaHP:0040283 - Occasional145
HP:0004373HP:0012179Craniofacial dystonia1KCNC3 CL E G H37486235ORPHA:98768Spinocerebellar ataxia type 1317
HP:0004373HP:0012179Craniofacial dystonia1KCNN2 CL E G H37816291OMIM:619724DYSTONIA 34, MYOCLONIC; DYT34
HP:0004373HP:0002356Writer's cramp1KCNN2 CL E G H37816291OMIM:619724DYSTONIA 34, MYOCLONIC; DYT34
HP:0004373HP:0012179Craniofacial dystonia1KCTD17 CL E G H7973425705OMIM:616398Dystonia 26, myoclonic1
HP:0004373HP:0012049Laryngeal dystonia1KCTD17 CL E G H7973425705OMIM:616398Dystonia 26, myoclonic.1
HP:0004373HP:0012179Craniofacial dystonia1KCTD17 CL E G H7973425705ORPHA:36899Myoclonus-dystonia syndrome1
HP:0004373HP:0002356Writer's cramp1KCTD17 CL E G H7973425705ORPHA:36899Myoclonus-dystonia syndromeHP:0040282 - Frequent1
HP:0004373HP:0012179Craniofacial dystonia1KIF1C CL E G H107496317ORPHA:397946Autosomal spastic paraplegia type 5838
HP:0004373HP:0012179Craniofacial dystonia1KMT2B CL E G H975715840ORPHA:589618Dystonia 2811
HP:0004373HP:0012049Laryngeal dystonia1KMT2B CL E G H975715840OMIM:617284Dystonia 28, childhood-onset.11
HP:0004373HP:0012179Craniofacial dystonia1KMT2B CL E G H975715840OMIM:617284Dystonia 28, childhood-onset.11
HP:0004373HP:0012179Craniofacial dystonia1MAFB CL E G H99356408ORPHA:233Duane retraction syndrome63
HP:0004373HP:0012179Craniofacial dystonia1MAPT CL E G H41376893ORPHA:240071Classic progressive supranuclear palsy syndrome140
HP:0004373HP:0012179Craniofacial dystonia1MAPT CL E G H41376893ORPHA:240094Progressive supranuclear palsy-pure akinesia with gait freezing syndrome140
HP:0004373HP:0012179Craniofacial dystonia1MAPT CL E G H41376893OMIM:601104Supranuclear palsy, progressive, 1140
HP:0004373HP:0012179Craniofacial dystonia1MECR CL E G H5110219691OMIM:617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities.6
HP:0004373HP:0012179Craniofacial dystonia1MECR CL E G H5110219691ORPHA:508093MEPAN syndrome6
HP:0004373HP:0012179Craniofacial dystonia1MYF5 CL E G H46177565OMIM:618155Ophthalmoplegia, external, with rib and vertebral anomalies
HP:0004373HP:0012179Craniofacial dystonia1NAA10 CL E G H826018704ORPHA:276432Ogden syndrome23
HP:0004373HP:0012179Craniofacial dystonia1NAA10 CL E G H826018704OMIM:300855Ogden syndrome23
HP:0004373HP:0012179Craniofacial dystonia1NAXE CL E G H12824018453OMIM:617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 19
HP:0004373HP:0012179Craniofacial dystonia1NDUFA6 CL E G H47007690OMIM:618253Mitochondrial complex I deficiency, nuclear type 331
HP:0004373HP:0012179Craniofacial dystonia1NEK9 CL E G H9175418591OMIM:617022Lethal congenital contracture syndrome 109
HP:0004373HP:0012179Craniofacial dystonia1NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndrome32
HP:0004373HP:0012179Craniofacial dystonia1NKX6-2 CL E G H8450419321OMIM:617560Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy2
HP:0004373HP:0012179Craniofacial dystonia1NR4A2 CL E G H49297981ORPHA:98808Autosomal dominant dopa-responsive dystonia27
HP:0004373HP:0012179Craniofacial dystonia1PANK2 CL E G H8002515894ORPHA:216873Atypical pantothenate kinase-associated neurodegeneration55
HP:0004373HP:0012179Craniofacial dystonia1PANK2 CL E G H8002515894OMIM:234200Neurodegeneration with brain iron accumulation 155
HP:0004373HP:0012179Craniofacial dystonia1PARK7 CL E G H1131516369OMIM:606324PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK723
HP:0004373HP:0012179Craniofacial dystonia1PCGF2 CL E G H770312929OMIM:618371Turnpenny-Fry syndrome
HP:0004373HP:0002356Writer's cramp1PLP1 CL E G H53549086OMIM:312080Pelizaeus-Merzbacher disease60
HP:0004373HP:0012179Craniofacial dystonia1PNKD CL E G H259539153ORPHA:98810Paroxysmal non-kinesigenic dyskinesia66
HP:0004373HP:0012179Craniofacial dystonia1PNKD CL E G H259539153OMIM:118800Paroxysmal nonkinesigenic dyskinesia 166
HP:0004373HP:0012179Craniofacial dystonia1POLR1B CL E G H8417220454ORPHA:861Treacher-Collins syndrome
HP:0004373HP:0012179Craniofacial dystonia1POLR1C CL E G H953320194ORPHA:861Treacher-Collins syndrome38
HP:0004373HP:0012179Craniofacial dystonia1POLR1D CL E G H5108220422ORPHA:861Treacher-Collins syndrome31
HP:0004373HP:0012179Craniofacial dystonia1PRDX3 CL E G H109359354OMIM:619862
HP:0004373HP:0012179Craniofacial dystonia1PRKAR1B CL E G H55759390OMIM:619680MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS2
HP:0004373HP:0012049Laryngeal dystonia1PRKRA CL E G H85759438OMIM:612067Dystonia 16.37
HP:0004373HP:0012179Craniofacial dystonia1PRKRA CL E G H85759438OMIM:612067Dystonia 1637
HP:0004373HP:0012179Craniofacial dystonia1PRKRA CL E G H85759438ORPHA:210571Dystonia 1637
HP:0004373HP:0002356Writer's cramp1PRRT2 CL E G H11247630500ORPHA:98809Paroxysmal kinesigenic dyskinesiaHP:0040283 - Occasional94
HP:0004373HP:0012179Craniofacial dystonia1PRRT2 CL E G H11247630500ORPHA:98810Paroxysmal non-kinesigenic dyskinesia94
HP:0004373HP:0012179Craniofacial dystonia1REEP1 CL E G H6505525786OMIM:62001187
HP:0004373HP:0012179Craniofacial dystonia1RNF170 CL E G H8179025358OMIM:619686SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG853
HP:0004373HP:0012179Craniofacial dystonia1ROBO3 CL E G H6422113433OMIM:607313Gaze palsy, familial horizontal, with progressive scoliosis, 190
HP:0004373HP:0012179Craniofacial dystonia1SALL4 CL E G H5716715924ORPHA:233Duane retraction syndrome86
HP:0004373HP:0012179Craniofacial dystonia1SCP2 CL E G H634210606OMIM:613724Leukoencephalopathy with dystonia and motor neuropathy4
HP:0004373HP:0012179Craniofacial dystonia1SGCE CL E G H891010808OMIM:159900Dystonia 11, myoclonic49
HP:0004373HP:0002356Writer's cramp1SGCE CL E G H891010808OMIM:159900Dystonia 11, myoclonic.49
HP:0004373HP:0012179Craniofacial dystonia1SGCE CL E G H891010808ORPHA:36899Myoclonus-dystonia syndrome49
HP:0004373HP:0002356Writer's cramp1SGCE CL E G H891010808ORPHA:36899Myoclonus-dystonia syndromeHP:0040282 - Frequent49
HP:0004373HP:0012179Craniofacial dystonia1SIGMAR1 CL E G H102808157ORPHA:300605Juvenile amyotrophic lateral sclerosis6
HP:0004373HP:0012179Craniofacial dystonia1SLC19A3 CL E G H8070416266OMIM:607483Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2).110
HP:0004373HP:0012179Craniofacial dystonia1SLC39A14 CL E G H2351620858ORPHA:521406Dystonia-parkinsonism-hypermanganesemia syndrome5
HP:0004373HP:0012179Craniofacial dystonia1SLC39A14 CL E G H2351620858OMIM:617013Hypermanganesemia with dystonia 25
HP:0004373HP:0012179Craniofacial dystonia1SLC6A3 CL E G H653111049OMIM:613135Parkinsonism-Dystonia, infantile, 113
HP:0004373HP:0012179Craniofacial dystonia1SOX10 CL E G H666311190OMIM:609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease61
HP:0004373HP:0012179Craniofacial dystonia1SPG11 CL E G H8020811226ORPHA:300605Juvenile amyotrophic lateral sclerosis287
HP:0004373HP:0012179Craniofacial dystonia1SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0004373HP:0012179Craniofacial dystonia1SPTLC1 CL E G H1055811277ORPHA:300605Juvenile amyotrophic lateral sclerosis54
HP:0004373HP:0012179Craniofacial dystonia1STARD7 CL E G H5691018063OMIM:607876Epilepsy, familial adult myoclonic, 2
HP:0004373HP:0012049Laryngeal dystonia1STX16 CL E G H867511431ORPHA:94089Pseudohypoparathyroidism type 1BHP:0040283 - Occasional86
HP:0004373HP:0012179Craniofacial dystonia1SUPT16H CL E G H1119811465OMIM:619480NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0004373HP:0012179Craniofacial dystonia1SYNGAP1 CL E G H883111497OMIM:612621Mental retardation, autosomal dominant 5108
HP:0004373HP:0012179Craniofacial dystonia1TAF1 CL E G H687211535ORPHA:53351X-linked dystonia-parkinsonism21
HP:0004373HP:0002356Writer's cramp1TBC1D24 CL E G H5746529203OMIM:608105Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp.271
HP:0004373HP:0012179Craniofacial dystonia1TBC1D24 CL E G H5746529203ORPHA:352582Familial infantile myoclonic epilepsy271
HP:0004373HP:0002356Writer's cramp1TBC1D24 CL E G H5746529203ORPHA:163727Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndromeHP:0040282 - Frequent271
HP:0004373HP:0012179Craniofacial dystonia1TBP CL E G H690811588ORPHA:98759Spinocerebellar ataxia type 177
HP:0004373HP:0002356Writer's cramp1TBP CL E G H690811588ORPHA:98759Spinocerebellar ataxia type 17HP:0040282 - Frequent7
HP:0004373HP:0012179Craniofacial dystonia1TCOF1 CL E G H694911654ORPHA:861Treacher-Collins syndrome140
HP:0004373HP:0012179Craniofacial dystonia1TGFB2 CL E G H704211768OMIM:614816LOEYS-DIETZ SYNDROME 4; LDS4162
HP:0004373HP:0012179Craniofacial dystonia1TGM6 CL E G H34364116255OMIM:613908Spinocerebellar ataxia 3558
HP:0004373HP:0012179Craniofacial dystonia1TGM6 CL E G H34364116255ORPHA:276193Spinocerebellar ataxia type 3558
HP:0004373HP:0012179Craniofacial dystonia1THAP1 CL E G H5514520856OMIM:602629Dystonia 6, torsion42
HP:0004373HP:0002356Writer's cramp1THAP1 CL E G H5514520856OMIM:602629Dystonia 6, torsion.42
HP:0004373HP:0012049Laryngeal dystonia1THAP1 CL E G H5514520856OMIM:602629Dystonia 6, torsion.42
HP:0004373HP:0012179Craniofacial dystonia1THAP1 CL E G H5514520856ORPHA:98806Primary dystonia, DYT6 typeHP:0040283 - Occasional42
HP:0004373HP:0012049Laryngeal dystonia1THAP1 CL E G H5514520856ORPHA:98806Primary dystonia, DYT6 typeHP:0040283 - Occasional42
HP:0004373HP:0012179Craniofacial dystonia1TIMM8A CL E G H167811817ORPHA:52368Mohr-Tranebjaerg syndrome15
HP:0004373HP:0002356Writer's cramp1TOR1A CL E G H18613098OMIM:128100Dystonia 1, torsion, autosomal dominant.47
HP:0004373HP:0012179Craniofacial dystonia1TOR1A CL E G H18613098OMIM:128100Dystonia 1, torsion, autosomal dominant47
HP:0004373HP:0002356Writer's cramp1TOR1A CL E G H18613098ORPHA:36899Myoclonus-dystonia syndromeHP:0040282 - Frequent47
HP:0004373HP:0012179Craniofacial dystonia1TOR1A CL E G H18613098ORPHA:36899Myoclonus-dystonia syndrome47
HP:0004373HP:0012179Craniofacial dystonia1TRPV4 CL E G H5934118083OMIM:181405Scapuloperoneal spinal muscular atrophy214
HP:0004373HP:0012179Craniofacial dystonia1TUBB3 CL E G H1038120772ORPHA:300570Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation64
HP:0004373HP:0012179Craniofacial dystonia1TUBB4A CL E G H1038220774OMIM:128101Dystonia 4, torsion, autosomal dominant66
HP:0004373HP:0012179Craniofacial dystonia1TUBB4A CL E G H1038220774ORPHA:98805Primary dystonia, DYT4 type66
HP:0004373HP:0012049Laryngeal dystonia1TUBB4A CL E G H1038220774ORPHA:98805Primary dystonia, DYT4 typeHP:0040281 - Very frequent66
HP:0004373HP:0012179Craniofacial dystonia1TWIST1 CL E G H729112428ORPHA:794Saethre-Chotzen syndrome18
HP:0004373HP:0012179Craniofacial dystonia1VAC14 CL E G H5569725507OMIM:617054Striatonigral degeneration, childhood-onset.6
HP:0004373HP:0012179Craniofacial dystonia1VPS11 CL E G H5582314583OMIM:619637DYSTONIA 32; DYT321
HP:0004373HP:0012049Laryngeal dystonia1VPS11 CL E G H5582314583OMIM:619637DYSTONIA 32; DYT321
HP:0004373HP:0012179Craniofacial dystonia1VPS13A CL E G H232301908ORPHA:2388Choreoacanthocytosis130
HP:0004373HP:0012049Laryngeal dystonia1VPS13A CL E G H232301908ORPHA:2388ChoreoacanthocytosisHP:0040282 - Frequent130
HP:0004373HP:0002356Writer's cramp1VPS16 CL E G H6460114584OMIM:619291DYSTONIA 30; DYT30
HP:0004373HP:0012179Craniofacial dystonia1VPS16 CL E G H6460114584OMIM:619291DYSTONIA 30; DYT30
HP:0004373HP:0012179Craniofacial dystonia1ZNF142 CL E G H770112927OMIM:618425Neurodevelopmental disorder with impaired speech and hyperkinetic movements
HP:0004373HP:0031007Orofacial action-specific dystonia induced by speech2 CL E G H
HP:0004373HP:0000643Blepharospasm2AARS1 CL E G H1620OMIM:616339Epileptic encephalopathy, early infantile, 29.
HP:0004373HP:0000473Torticollis2ACTA1 CL E G H58129ORPHA:97240Zebra body myopathyHP:0040281 - Very frequent96
HP:0004373HP:0000473Torticollis2ALG9 CL E G H7979615672ORPHA:79328ALG9-CDGHP:0040283 - Occasional93
HP:0004373HP:0000473Torticollis2ALS2 CL E G H57679443OMIM:205100Amyotrophic lateral sclerosis 2, juvenile114
HP:0004373HP:0012048Oromandibular dystonia2ALS2 CL E G H57679443ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional114
HP:0004373HP:0000473Torticollis2ALS2 CL E G H57679443ORPHA:300605Juvenile amyotrophic lateral sclerosis114
HP:0004373HP:0000643Blepharospasm2ANO3 CL E G H6398214004ORPHA:420485Cranio-cervical dystonia with laryngeal and upper-limb involvementHP:0040282 - Frequent17
HP:0004373HP:0012048Oromandibular dystonia2ANO3 CL E G H6398214004ORPHA:420485Cranio-cervical dystonia with laryngeal and upper-limb involvementHP:0040283 - Occasional17
HP:0004373HP:0000473Torticollis2ANO3 CL E G H6398214004ORPHA:420485Cranio-cervical dystonia with laryngeal and upper-limb involvementHP:0040282 - Frequent17
HP:0004373HP:0000473Torticollis2ANO3 CL E G H6398214004OMIM:615034Dystonia 24.17
HP:0004373HP:0000643Blepharospasm2ANO3 CL E G H6398214004OMIM:615034Dystonia 24HP:0040283 - Occasional17
HP:0004373HP:0012048Oromandibular dystonia2ANO3 CL E G H6398214004OMIM:615034Dystonia 24HP:0040283 - Occasional17
HP:0004373HP:0000643Blepharospasm2ATN1 CL E G H18223033ORPHA:101Dentatorubral pallidoluysian atrophyHP:0040283 - Occasional16
HP:0004373HP:0012048Oromandibular dystonia2ATN1 CL E G H18223033ORPHA:101Dentatorubral pallidoluysian atrophyHP:0040283 - Occasional16
HP:0004373HP:0000473Torticollis2ATP13A2 CL E G H2340030213OMIM:606693Kufor-Rakeb syndrome.100
HP:0004373HP:0000643Blepharospasm2ATP13A2 CL E G H2340030213ORPHA:306674Kufor-Rakeb syndromeHP:0040283 - Occasional100
HP:0004373HP:0031008Lingual dystonia2ATP13A2 CL E G H2340030213ORPHA:306674Kufor-Rakeb syndromeHP:0040283 - Occasional100
HP:0004373HP:0000473Torticollis2ATP1A3 CL E G H478801OMIM:128235Dystonia 12.150
HP:0004373HP:0000473Torticollis2ATP1A3 CL E G H478801ORPHA:71517Rapid-onset dystonia-parkinsonismHP:0040282 - Frequent150
HP:0004373HP:0000473Torticollis2B3GALT6 CL E G H12679217978ORPHA:536467B3GALT6-related spondylodysplastic Ehlers-Danlos syndromeHP:0040283 - Occasional38
HP:0004373HP:0012048Oromandibular dystonia2C19ORF12 CL E G H8363625443OMIM:614298Neurodegeneration with brain iron accumulation 4.114
HP:0004373HP:0000473Torticollis2CACNA1A CL E G H7731388ORPHA:71518Benign paroxysmal torticollis of infancyHP:0040281 - Very frequent449
HP:0004373HP:0000473Torticollis2CACNA1A CL E G H7731388ORPHA:97Familial paroxysmal ataxiaHP:0040283 - Occasional449
HP:0004373HP:0000643Blepharospasm2CACNA1A CL E G H7731388ORPHA:98758Spinocerebellar ataxia type 6HP:0040283 - Occasional449
HP:0004373HP:0000473Torticollis2CDK10 CL E G H85581770OMIM:617694Al Kaissi syndrome.2
HP:0004373HP:0000473Torticollis2CEP85L CL E G H38711921638OMIM:618873LISSENCEPHALY 10; LIS101
HP:0004373HP:0000643Blepharospasm2CHN1 CL E G H11231943ORPHA:233Duane retraction syndromeHP:0040283 - Occasional35
HP:0004373HP:0000473Torticollis2CIZ1 CL E G H2579216744ORPHA:420492Adult-onset cervical dystonia, DYT23 typeHP:0040282 - Frequent16
HP:0004373HP:0000473Torticollis2CNP CL E G H12672158OMIM:619071LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20
HP:0004373HP:0012048Oromandibular dystonia2COASY CL E G H8034729932ORPHA:397725COASY protein-associated neurodegenerationHP:0040281 - Very frequent16
HP:0004373HP:0012048Oromandibular dystonia2COASY CL E G H8034729932OMIM:615643Neurodegeneration with brain iron accumulation 6.16
HP:0004373HP:0000473Torticollis2COL12A1 CL E G H13032188ORPHA:75840Congenital muscular dystrophy, Ullrich typeHP:0040282 - Frequent65
HP:0004373HP:0000473Torticollis2COL6A1 CL E G H12912211OMIM:158810Bethlem myopathy 1.HP:0003577 - Congenital onset442
HP:0004373HP:0000473Torticollis2COL6A1 CL E G H12912211ORPHA:75840Congenital muscular dystrophy, Ullrich typeHP:0040282 - Frequent442
HP:0004373HP:0000473Torticollis2COL6A1 CL E G H12912211OMIM:254090Ullrich congenital muscular dystrophy 1.442
HP:0004373HP:0000473Torticollis2COL6A2 CL E G H12922212OMIM:158810Bethlem myopathy 1.HP:0003577 - Congenital onset478
HP:0004373HP:0000473Torticollis2COL6A2 CL E G H12922212ORPHA:75840Congenital muscular dystrophy, Ullrich typeHP:0040282 - Frequent478
HP:0004373HP:0000473Torticollis2COL6A2 CL E G H12922212OMIM:254090Ullrich congenital muscular dystrophy 1.478
HP:0004373HP:0000473Torticollis2COL6A3 CL E G H12932213OMIM:158810Bethlem myopathy 1.HP:0003577 - Congenital onset702
HP:0004373HP:0000473Torticollis2COL6A3 CL E G H12932213ORPHA:75840Congenital muscular dystrophy, Ullrich typeHP:0040282 - Frequent702
HP:0004373HP:0000473Torticollis2COL6A3 CL E G H12932213OMIM:616411Dystonia 27702
HP:0004373HP:0012048Oromandibular dystonia2COL6A3 CL E G H12932213OMIM:616411Dystonia 27.702
HP:0004373HP:0012048Oromandibular dystonia2COL6A3 CL E G H12932213ORPHA:464440Primary dystonia, DYT27 typeHP:0040281 - Very frequent702
HP:0004373HP:0000473Torticollis2COL6A3 CL E G H12932213OMIM:254090Ullrich congenital muscular dystrophy 1.702
HP:0004373HP:0000473Torticollis2COLEC11 CL E G H7898917213OMIM:2650503mc syndrome 2.9
HP:0004373HP:0000473Torticollis2COX20 CL E G H11622826970OMIM:619054MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN1125
HP:0004373HP:0000473Torticollis2CP CL E G H13562295OMIM:604290ACERULOPLASMINEMIA.115
HP:0004373HP:0000643Blepharospasm2CP CL E G H13562295ORPHA:48818AceruloplasminemiaHP:0040283 - Occasional115
HP:0004373HP:0000643Blepharospasm2CP CL E G H13562295OMIM:604290ACERULOPLASMINEMIA.115
HP:0004373HP:0000473Torticollis2CP CL E G H13562295ORPHA:48818AceruloplasminemiaHP:0040283 - Occasional115
HP:0004373HP:0000643Blepharospasm2CPLX1 CL E G H108152309ORPHA:352582Familial infantile myoclonic epilepsyHP:0040283 - Occasional1
HP:0004373HP:0000473Torticollis2DDC CL E G H16442719OMIM:608643Aromatic L-amino acid decarboxylase deficiency43
HP:0004373HP:0000643Blepharospasm2DDC CL E G H16442719OMIM:608643Aromatic L-amino acid decarboxylase deficiency43
HP:0004373HP:0000473Torticollis2DRD2 CL E G H18133023ORPHA:36899Myoclonus-dystonia syndromeHP:0040282 - Frequent16
HP:0004373HP:0000643Blepharospasm2DRD5 CL E G H18163026OMIM:606798Blepharospasm, benign essential, susceptibility to.3
HP:0004373HP:0000643Blepharospasm2FGFR2 CL E G H22633689ORPHA:794Saethre-Chotzen syndromeHP:0040282 - Frequent175
HP:0004373HP:0000643Blepharospasm2FGFR3 CL E G H22613690ORPHA:794Saethre-Chotzen syndromeHP:0040282 - Frequent145
HP:0004373HP:0000473Torticollis2FLI1 CL E G H23133749ORPHA:370348Peripheral primitive neuroectodermal tumorHP:0040283 - Occasional8
HP:0004373HP:0000643Blepharospasm2FTL CL E G H25123999OMIM:606159Neurodegeneration with brain iron accumulation 3.33
HP:0004373HP:0000643Blepharospasm2FTL CL E G H25123999ORPHA:157846NeuroferritinopathyHP:0040283 - Occasional33
HP:0004373HP:0012048Oromandibular dystonia2FUS CL E G H25214010ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional105
HP:0004373HP:0000473Torticollis2FUS CL E G H25214010ORPHA:300605Juvenile amyotrophic lateral sclerosis105
HP:0004373HP:0000473Torticollis2GCH1 CL E G H26434193ORPHA:98808Autosomal dominant dopa-responsive dystoniaHP:0040282 - Frequent86
HP:0004373HP:0000473Torticollis2GCH1 CL E G H26434193OMIM:128230Dystonia, DOPA-responsive, with or without hyperphenylalaninemia86
HP:0004373HP:0000473Torticollis2GDAP2 CL E G H5483418010OMIM:618369Spinocerebellar ataxia, autosomal recessive 27.
HP:0004373HP:0031008Lingual dystonia2GNAL CL E G H27744388ORPHA:329466Autosomal dominant focal dystonia, DYT25 typeHP:0040282 - Frequent13
HP:0004373HP:0000473Torticollis2GNAL CL E G H27744388ORPHA:329466Autosomal dominant focal dystonia, DYT25 typeHP:0040282 - Frequent13
HP:0004373HP:0031008Lingual dystonia2GNAL CL E G H27744388OMIM:615073Dystonia 25.13
HP:0004373HP:0000473Torticollis2GNAL CL E G H27744388OMIM:615073Dystonia 25.13
HP:0004373HP:0000473Torticollis2HK1 CL E G H30984922OMIM:618547NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA11
HP:0004373HP:0000643Blepharospasm2HPCA CL E G H32085144OMIM:224500Dystonia 2, torsion, autosomal recessive.4
HP:0004373HP:0000473Torticollis2HPCA CL E G H32085144OMIM:224500Dystonia 2, torsion, autosomal recessive.4
HP:0004373HP:0000643Blepharospasm2HPCA CL E G H32085144ORPHA:99657Primary dystonia, DYT2 typeHP:0040282 - Frequent4
HP:0004373HP:0000473Torticollis2HPCA CL E G H32085144ORPHA:99657Primary dystonia, DYT2 typeHP:0040282 - Frequent4
HP:0004373HP:0000643Blepharospasm2HSPG2 CL E G H33395273ORPHA:800Schwartz-Jampel syndromeHP:0040283 - Occasional345
HP:0004373HP:0000473Torticollis2IMPDH2 CL E G H36156053ORPHA:98808Autosomal dominant dopa-responsive dystoniaHP:0040282 - Frequent1
HP:0004373HP:0000473Torticollis2ITGA7 CL E G H36796143OMIM:613204Muscular dystrophy, congenital, due to integrin alpha-7 deficiency127
HP:0004373HP:0000473Torticollis2KCNC3 CL E G H37486235ORPHA:98768Spinocerebellar ataxia type 13HP:0040283 - Occasional17
HP:0004373HP:0000473Torticollis2KCNN2 CL E G H37816291OMIM:619724DYSTONIA 34, MYOCLONIC; DYT34
HP:0004373HP:0000643Blepharospasm2KCTD17 CL E G H7973425705OMIM:616398Dystonia 26, myoclonic.1
HP:0004373HP:0000473Torticollis2KCTD17 CL E G H7973425705OMIM:616398Dystonia 26, myoclonic.1
HP:0004373HP:0000473Torticollis2KCTD17 CL E G H7973425705ORPHA:36899Myoclonus-dystonia syndromeHP:0040282 - Frequent1
HP:0004373HP:0000473Torticollis2KIF1C CL E G H107496317ORPHA:397946Autosomal spastic paraplegia type 58HP:0040284 - Very rare38
HP:0004373HP:0012048Oromandibular dystonia2KMT2B CL E G H975715840ORPHA:589618Dystonia 2811
HP:0004373HP:0000473Torticollis2KMT2B CL E G H975715840ORPHA:589618Dystonia 2811
HP:0004373HP:0000473Torticollis2KMT2B CL E G H975715840OMIM:617284Dystonia 28, childhood-onset.11
HP:0004373HP:0012048Oromandibular dystonia2KMT2B CL E G H975715840OMIM:617284Dystonia 28, childhood-onset.11
HP:0004373HP:0000643Blepharospasm2MAFB CL E G H99356408ORPHA:233Duane retraction syndromeHP:0040283 - Occasional63
HP:0004373HP:0000643Blepharospasm2MAPT CL E G H41376893ORPHA:240071Classic progressive supranuclear palsy syndromeHP:0040282 - Frequent140
HP:0004373HP:0000643Blepharospasm2MAPT CL E G H41376893ORPHA:240094Progressive supranuclear palsy-pure akinesia with gait freezing syndromeHP:0040284 - Very rare140
HP:0004373HP:0000473Torticollis2MAPT CL E G H41376893OMIM:601104Supranuclear palsy, progressive, 1140
HP:0004373HP:0000643Blepharospasm2MECR CL E G H5110219691OMIM:617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities6
HP:0004373HP:0000473Torticollis2MYF5 CL E G H46177565OMIM:618155Ophthalmoplegia, external, with rib and vertebral anomalies.
HP:0004373HP:0000473Torticollis2NAA10 CL E G H826018704OMIM:300855Ogden syndrome23
HP:0004373HP:0000473Torticollis2NAA10 CL E G H826018704ORPHA:276432Ogden syndromeHP:0040282 - Frequent23
HP:0004373HP:0000473Torticollis2NAXE CL E G H12824018453OMIM:617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 19
HP:0004373HP:0000473Torticollis2NEK9 CL E G H9175418591OMIM:617022Lethal congenital contracture syndrome 10.9
HP:0004373HP:0031008Lingual dystonia2NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndromeHP:0040283 - Occasional32
HP:0004373HP:0000473Torticollis2NKX6-2 CL E G H8450419321OMIM:617560Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy2
HP:0004373HP:0000473Torticollis2NR4A2 CL E G H49297981ORPHA:98808Autosomal dominant dopa-responsive dystoniaHP:0040282 - Frequent27
HP:0004373HP:0012048Oromandibular dystonia2PANK2 CL E G H8002515894ORPHA:216873Atypical pantothenate kinase-associated neurodegenerationHP:0040283 - Occasional55
HP:0004373HP:0000643Blepharospasm2PANK2 CL E G H8002515894OMIM:234200Neurodegeneration with brain iron accumulation 1.55
HP:0004373HP:0000643Blepharospasm2PARK7 CL E G H1131516369OMIM:606324PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK723
HP:0004373HP:0000473Torticollis2PCGF2 CL E G H770312929OMIM:618371Turnpenny-Fry syndrome.
HP:0004373HP:0000473Torticollis2PNKD CL E G H259539153ORPHA:98810Paroxysmal non-kinesigenic dyskinesiaHP:0040283 - Occasional66
HP:0004373HP:0000473Torticollis2PNKD CL E G H259539153OMIM:118800Paroxysmal nonkinesigenic dyskinesia 1.66
HP:0004373HP:0000643Blepharospasm2POLR1B CL E G H8417220454ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional
HP:0004373HP:0000643Blepharospasm2POLR1C CL E G H953320194ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional38
HP:0004373HP:0000643Blepharospasm2POLR1D CL E G H5108220422ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional31
HP:0004373HP:0000473Torticollis2PRDX3 CL E G H109359354OMIM:619862
HP:0004373HP:0000473Torticollis2PRKAR1B CL E G H55759390OMIM:619680MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS2
HP:0004373HP:0000473Torticollis2PRKRA CL E G H85759438OMIM:612067Dystonia 1637
HP:0004373HP:0000473Torticollis2PRKRA CL E G H85759438ORPHA:210571Dystonia 16HP:0040282 - Frequent37
HP:0004373HP:0000473Torticollis2PRRT2 CL E G H11247630500ORPHA:98810Paroxysmal non-kinesigenic dyskinesiaHP:0040283 - Occasional94
HP:0004373HP:0000473Torticollis2RNF170 CL E G H8179025358OMIM:619686SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG853
HP:0004373HP:0000473Torticollis2ROBO3 CL E G H6422113433OMIM:607313Gaze palsy, familial horizontal, with progressive scoliosis, 190
HP:0004373HP:0000643Blepharospasm2SALL4 CL E G H5716715924ORPHA:233Duane retraction syndromeHP:0040283 - Occasional86
HP:0004373HP:0000473Torticollis2SCP2 CL E G H634210606OMIM:613724Leukoencephalopathy with dystonia and motor neuropathy.4
HP:0004373HP:0000473Torticollis2SGCE CL E G H891010808OMIM:159900Dystonia 11, myoclonic.49
HP:0004373HP:0000473Torticollis2SGCE CL E G H891010808ORPHA:36899Myoclonus-dystonia syndromeHP:0040282 - Frequent49
HP:0004373HP:0012048Oromandibular dystonia2SIGMAR1 CL E G H102808157ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional6
HP:0004373HP:0000473Torticollis2SIGMAR1 CL E G H102808157ORPHA:300605Juvenile amyotrophic lateral sclerosis6
HP:0004373HP:0012048Oromandibular dystonia2SLC39A14 CL E G H2351620858ORPHA:521406Dystonia-parkinsonism-hypermanganesemia syndromeHP:0040282 - Frequent5
HP:0004373HP:0012048Oromandibular dystonia2SLC39A14 CL E G H2351620858OMIM:617013Hypermanganesemia with dystonia 2.5
HP:0004373HP:0012048Oromandibular dystonia2SLC6A3 CL E G H653111049OMIM:613135Parkinsonism-Dystonia, infantile, 113
HP:0004373HP:0000473Torticollis2SOX10 CL E G H666311190OMIM:609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease61
HP:0004373HP:0000473Torticollis2SPG11 CL E G H8020811226ORPHA:300605Juvenile amyotrophic lateral sclerosis287
HP:0004373HP:0012048Oromandibular dystonia2SPG11 CL E G H8020811226ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional287
HP:0004373HP:0000473Torticollis2SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0004373HP:0000473Torticollis2SPTLC1 CL E G H1055811277ORPHA:300605Juvenile amyotrophic lateral sclerosis54
HP:0004373HP:0012048Oromandibular dystonia2SPTLC1 CL E G H1055811277ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional54
HP:0004373HP:0000643Blepharospasm2STARD7 CL E G H5691018063OMIM:607876Epilepsy, familial adult myoclonic, 2.
HP:0004373HP:0000473Torticollis2SUPT16H CL E G H1119811465OMIM:619480NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0004373HP:0000473Torticollis2SYNGAP1 CL E G H883111497OMIM:612621Mental retardation, autosomal dominant 5HP:0040283 - Occasional108
HP:0004373HP:0000643Blepharospasm2TAF1 CL E G H687211535ORPHA:53351X-linked dystonia-parkinsonismHP:0040282 - Frequent21
HP:0004373HP:0000643Blepharospasm2TBC1D24 CL E G H5746529203ORPHA:352582Familial infantile myoclonic epilepsyHP:0040283 - Occasional271
HP:0004373HP:0000643Blepharospasm2TBP CL E G H690811588ORPHA:98759Spinocerebellar ataxia type 17HP:0040282 - Frequent7
HP:0004373HP:0000473Torticollis2TBP CL E G H690811588ORPHA:98759Spinocerebellar ataxia type 17HP:0040282 - Frequent7
HP:0004373HP:0000643Blepharospasm2TCOF1 CL E G H694911654ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional140
HP:0004373HP:0000473Torticollis2TGFB2 CL E G H704211768OMIM:614816LOEYS-DIETZ SYNDROME 4; LDS4162
HP:0004373HP:0000473Torticollis2TGM6 CL E G H34364116255OMIM:613908Spinocerebellar ataxia 35.58
HP:0004373HP:0000473Torticollis2TGM6 CL E G H34364116255ORPHA:276193Spinocerebellar ataxia type 35HP:0040283 - Occasional58
HP:0004373HP:0012048Oromandibular dystonia2THAP1 CL E G H5514520856OMIM:602629Dystonia 6, torsion.42
HP:0004373HP:0031008Lingual dystonia2THAP1 CL E G H5514520856OMIM:602629Dystonia 6, torsion.42
HP:0004373HP:0000473Torticollis2THAP1 CL E G H5514520856OMIM:602629Dystonia 6, torsion.42
HP:0004373HP:0000643Blepharospasm2THAP1 CL E G H5514520856ORPHA:98806Primary dystonia, DYT6 typeHP:0040283 - Occasional42
HP:0004373HP:0000473Torticollis2THAP1 CL E G H5514520856ORPHA:98806Primary dystonia, DYT6 typeHP:0040283 - Occasional42
HP:0004373HP:0031008Lingual dystonia2THAP1 CL E G H5514520856ORPHA:98806Primary dystonia, DYT6 typeHP:0040283 - Occasional42
HP:0004373HP:0012048Oromandibular dystonia2TIMM8A CL E G H167811817ORPHA:52368Mohr-Tranebjaerg syndromeHP:0040282 - Frequent15
HP:0004373HP:0000643Blepharospasm2TOR1A CL E G H18613098OMIM:128100Dystonia 1, torsion, autosomal dominant.47
HP:0004373HP:0000473Torticollis2TOR1A CL E G H18613098OMIM:128100Dystonia 1, torsion, autosomal dominant.47
HP:0004373HP:0012048Oromandibular dystonia2TOR1A CL E G H18613098OMIM:128100Dystonia 1, torsion, autosomal dominant47
HP:0004373HP:0000473Torticollis2TOR1A CL E G H18613098ORPHA:36899Myoclonus-dystonia syndromeHP:0040282 - Frequent47
HP:0004373HP:0000473Torticollis2TRPV4 CL E G H5934118083OMIM:181405Scapuloperoneal spinal muscular atrophy.214
HP:0004373HP:0000473Torticollis2TUBB3 CL E G H1038120772ORPHA:300570Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutationHP:0040283 - Occasional64
HP:0004373HP:0000473Torticollis2TUBB4A CL E G H1038220774OMIM:128101Dystonia 4, torsion, autosomal dominant.66
HP:0004373HP:0000473Torticollis2TUBB4A CL E G H1038220774ORPHA:98805Primary dystonia, DYT4 typeHP:0040282 - Frequent66
HP:0004373HP:0000643Blepharospasm2TUBB4A CL E G H1038220774ORPHA:98805Primary dystonia, DYT4 typeHP:0040283 - Occasional66
HP:0004373HP:0000643Blepharospasm2TWIST1 CL E G H729112428ORPHA:794Saethre-Chotzen syndromeHP:0040282 - Frequent18
HP:0004373HP:0000473Torticollis2VPS11 CL E G H5582314583OMIM:619637DYSTONIA 32; DYT321
HP:0004373HP:0031008Lingual dystonia2VPS13A CL E G H232301908ORPHA:2388ChoreoacanthocytosisHP:0040283 - Occasional130
HP:0004373HP:0012048Oromandibular dystonia2VPS13A CL E G H232301908ORPHA:2388ChoreoacanthocytosisHP:0040283 - Occasional130
HP:0004373HP:0000643Blepharospasm2VPS13A CL E G H232301908ORPHA:2388ChoreoacanthocytosisHP:0040283 - Occasional130
HP:0004373HP:0000473Torticollis2VPS16 CL E G H6460114584OMIM:619291DYSTONIA 30; DYT30
HP:0004373HP:0012048Oromandibular dystonia2VPS16 CL E G H6460114584OMIM:619291DYSTONIA 30; DYT30
HP:0004373HP:0000473Torticollis2ZNF142 CL E G H770112927OMIM:618425Neurodevelopmental disorder with impaired speech and hyperkinetic movements.
HP:0004373HP:0002544Retrocollis3ALS2 CL E G H57679443OMIM:205100Amyotrophic lateral sclerosis 2, juvenile114
HP:0004373HP:0002544Retrocollis3ALS2 CL E G H57679443ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional114
HP:0004373HP:0002544Retrocollis3FUS CL E G H25214010ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional105
HP:0004373HP:0002544Retrocollis3KMT2B CL E G H975715840OMIM:617284Dystonia 28, childhood-onset.11
HP:0004373HP:0002544Retrocollis3MAPT CL E G H41376893OMIM:601104Supranuclear palsy, progressive, 1.140
HP:0004373HP:0002544Retrocollis3PRKRA CL E G H85759438OMIM:612067Dystonia 16.37
HP:0004373HP:0002544Retrocollis3SIGMAR1 CL E G H102808157ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional6
HP:0004373HP:0002544Retrocollis3SPG11 CL E G H8020811226ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional287
HP:0004373HP:0002544Retrocollis3SPTLC1 CL E G H1055811277ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional54


Genes (119) :AARS1 ACTA1 ALDH18A1 ALG9 ALS2 ANO3 AOPEP ARX ATN1 ATP13A2 ATP1A3 ATP5MC3 B3GALT6 C19ORF12 CACNA1A CASR CDK10 CEP85L CHN1 CIZ1 CNP COASY COL12A1 COL6A1 COL6A2 COL6A3 COLEC11 COX20 CP CPLX1 DDC DRD2 DRD5 FGFR2 FGFR3 FLI1 FTL FUS GCH1 GDAP2 GNA11 GNAL GNAS HEXB HINT1 HK1 HPCA HSPG2 IMPDH2 ITGA7 KCNA1 KCNC3 KCNN2 KCTD17 KIF1C KMT2B MAFB MAPT MECR MYF5 NAA10 NAXE NDUFA6 NEK9 NGLY1 NKX6-2 NR4A2 PANK2 PARK7 PCGF2 PLA2G6 PLP1 PNKD POLR1B POLR1C POLR1D PRDX3 PRKAR1B PRKCG PRKRA PRRT2 REEP1 RNF170 ROBO3 SALL4 SCP2 SGCE SIGMAR1 SLC19A3 SLC39A14 SLC6A3 SOX10 SPG11 SPTBN1 SPTLC1 STARD7 STX16 SUPT16H SYNGAP1 TAF1 TBC1D24 TBP TCOF1 TGFB2 TGM6 TH THAP1 TIMM8A TOR1A TRPV4 TSPOAP1 TUBB3 TUBB4A TWIST1 VAC14 VPS11 VPS13A VPS16 ZNF142

Diseases (132) :OMIM:616339 OMIM:619691 ORPHA:97240 ORPHA:447757 ORPHA:79328 OMIM:205100 ORPHA:300605 ORPHA:420485 OMIM:615034 OMIM:619565 OMIM:309510 ORPHA:101 ORPHA:306674 OMIM:606693 OMIM:128235 ORPHA:71517 OMIM:619681 ORPHA:536467 OMIM:614298 ORPHA:71518 ORPHA:97 ORPHA:98758 ORPHA:428 OMIM:617694 OMIM:618873 ORPHA:233 ORPHA:420492 OMIM:619071 ORPHA:397725 OMIM:615643 ORPHA:75840 OMIM:158810 OMIM:254090 OMIM:616411 ORPHA:464440 OMIM:265050 OMIM:619054 ORPHA:48818 OMIM:604290 ORPHA:352582 OMIM:608643 ORPHA:36899 OMIM:606798 ORPHA:794 ORPHA:370348 OMIM:606159 ORPHA:157846 ORPHA:98808 OMIM:128230 OMIM:618369 ORPHA:329466 OMIM:615073 ORPHA:79443 ORPHA:94089 ORPHA:79444 ORPHA:309169 ORPHA:324442 OMIM:618547 OMIM:224500 ORPHA:99657 ORPHA:800 OMIM:613204 ORPHA:98809 ORPHA:98768 OMIM:619724 OMIM:616398 ORPHA:397946 ORPHA:589618 OMIM:617284 ORPHA:240071 ORPHA:240103 ORPHA:240094 OMIM:601104 OMIM:617282 ORPHA:508093 OMIM:618155 OMIM:300855 ORPHA:276432 OMIM:617186 OMIM:618253 OMIM:617022 ORPHA:404454 OMIM:617560 ORPHA:216873 OMIM:234200 OMIM:606324 OMIM:618371 ORPHA:199351 OMIM:312080 ORPHA:98810 OMIM:118800 ORPHA:861 OMIM:619862 OMIM:619680 OMIM:605361 OMIM:612067 ORPHA:210571 OMIM:620011 OMIM:619686 OMIM:607313 OMIM:613724 OMIM:159900 OMIM:607483 ORPHA:521406 OMIM:617013 OMIM:613135 OMIM:609136 OMIM:619475 OMIM:607876 OMIM:619480 OMIM:612621 ORPHA:53351 OMIM:608105 ORPHA:163727 ORPHA:98759 OMIM:614816 OMIM:613908 ORPHA:276193 ORPHA:101150 OMIM:602629 ORPHA:98806 ORPHA:52368 OMIM:128100 OMIM:181405 ORPHA:300570 OMIM:128101 ORPHA:98805 OMIM:617054 OMIM:619637 ORPHA:2388 OMIM:619291 OMIM:618425
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.