Human Phenotype Ontology 
Grandparent Node:
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Dystonia (HP:0001332)help
Parent Node:
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Focal dystonia (HP:0004373)help
..Starting node
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Craniofacial dystonia (HP:0012179)help
Term ID: 12179
Name: Craniofacial dystonia
Synonym: Abnormal craniofacial muscle tone; Abnormal craniofacial posture; Abnormal facial muscle tone; Distorted craniofacial posture; Facial Dystonia
Definition: A form of focal dystonia affecting the face and especially the jaw that is induced by the act of speaking. It is an involuntary contraction of the masticatory muscles, resulting in dysarthria or dysphagia.
Comments:
Reference: HP:0012179
Genes and Diseases:
 
       Child Nodes:
........expandTorticollis (HP:0000473) help
................... HP:0002544 Retrocollis
........expandBlepharospasm (HP:0000643) help
........expandOromandibular dystonia (HP:0012048) help
........expandOrofacial action-specific dystonia induced by speech (HP:0031007) help
........expandLingual dystonia (HP:0031008) help

 Sister Nodes: 
..expandLaryngeal dystonia (HP:0012049) help
..expandWriter's cramp (HP:0002356) 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:0012179HP:0012179Craniofacial dystonia0AARS1 CL E G H1620OMIM:616339Epileptic encephalopathy, early infantile, 29
HP:0012179HP:0012179Craniofacial dystonia0AARS1 CL E G H1620OMIM:619691TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0012179HP:0012179Craniofacial dystonia0ACTA1 CL E G H58129ORPHA:97240Zebra body myopathy96
HP:0012179HP:0012179Craniofacial dystonia0ALG9 CL E G H7979615672ORPHA:79328ALG9-CDG93
HP:0012179HP:0012179Craniofacial dystonia0ALS2 CL E G H57679443OMIM:205100Amyotrophic lateral sclerosis 2, juvenile114
HP:0012179HP:0012179Craniofacial dystonia0ALS2 CL E G H57679443ORPHA:300605Juvenile amyotrophic lateral sclerosis114
HP:0012179HP:0012179Craniofacial dystonia0ANO3 CL E G H6398214004ORPHA:420485Cranio-cervical dystonia with laryngeal and upper-limb involvement17
HP:0012179HP:0012179Craniofacial dystonia0ANO3 CL E G H6398214004OMIM:615034Dystonia 2417
HP:0012179HP:0012179Craniofacial dystonia0AOPEP CL E G H849091361OMIM:619565DYSTONIA 31; DYT31
HP:0012179HP:0012179Craniofacial dystonia0ATN1 CL E G H18223033ORPHA:101Dentatorubral pallidoluysian atrophy16
HP:0012179HP:0012179Craniofacial dystonia0ATP13A2 CL E G H2340030213OMIM:606693Kufor-Rakeb syndrome100
HP:0012179HP:0012179Craniofacial dystonia0ATP13A2 CL E G H2340030213ORPHA:306674Kufor-Rakeb syndrome100
HP:0012179HP:0012179Craniofacial dystonia0ATP1A3 CL E G H478801OMIM:128235Dystonia 12150
HP:0012179HP:0012179Craniofacial dystonia0ATP1A3 CL E G H478801ORPHA:71517Rapid-onset dystonia-parkinsonismHP:0040282 - Frequent150
HP:0012179HP:0012179Craniofacial dystonia0B3GALT6 CL E G H12679217978ORPHA:536467B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome38
HP:0012179HP:0012179Craniofacial dystonia0C19ORF12 CL E G H8363625443OMIM:614298Neurodegeneration with brain iron accumulation 4114
HP:0012179HP:0012179Craniofacial dystonia0CACNA1A CL E G H7731388ORPHA:71518Benign paroxysmal torticollis of infancy449
HP:0012179HP:0012179Craniofacial dystonia0CACNA1A CL E G H7731388ORPHA:97Familial paroxysmal ataxia449
HP:0012179HP:0012179Craniofacial dystonia0CACNA1A CL E G H7731388ORPHA:98758Spinocerebellar ataxia type 6449
HP:0012179HP:0012179Craniofacial dystonia0CDK10 CL E G H85581770OMIM:617694Al Kaissi syndrome2
HP:0012179HP:0012179Craniofacial dystonia0CEP85L CL E G H38711921638OMIM:618873LISSENCEPHALY 10; LIS101
HP:0012179HP:0012179Craniofacial dystonia0CHN1 CL E G H11231943ORPHA:233Duane retraction syndrome35
HP:0012179HP:0012179Craniofacial dystonia0CIZ1 CL E G H2579216744ORPHA:420492Adult-onset cervical dystonia, DYT23 typeHP:0040282 - Frequent16
HP:0012179HP:0012179Craniofacial dystonia0CNP CL E G H12672158OMIM:619071LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20
HP:0012179HP:0012179Craniofacial dystonia0COASY CL E G H8034729932ORPHA:397725COASY protein-associated neurodegeneration16
HP:0012179HP:0012179Craniofacial dystonia0COASY CL E G H8034729932OMIM:615643Neurodegeneration with brain iron accumulation 616
HP:0012179HP:0012179Craniofacial dystonia0COL12A1 CL E G H13032188ORPHA:75840Congenital muscular dystrophy, Ullrich type65
HP:0012179HP:0012179Craniofacial dystonia0COL6A1 CL E G H12912211OMIM:158810Bethlem myopathy 1442
HP:0012179HP:0012179Craniofacial dystonia0COL6A1 CL E G H12912211ORPHA:75840Congenital muscular dystrophy, Ullrich type442
HP:0012179HP:0012179Craniofacial dystonia0COL6A1 CL E G H12912211OMIM:254090Ullrich congenital muscular dystrophy 1442
HP:0012179HP:0012179Craniofacial dystonia0COL6A2 CL E G H12922212OMIM:158810Bethlem myopathy 1478
HP:0012179HP:0012179Craniofacial dystonia0COL6A2 CL E G H12922212ORPHA:75840Congenital muscular dystrophy, Ullrich type478
HP:0012179HP:0012179Craniofacial dystonia0COL6A2 CL E G H12922212OMIM:254090Ullrich congenital muscular dystrophy 1478
HP:0012179HP:0012179Craniofacial dystonia0COL6A3 CL E G H12932213OMIM:158810Bethlem myopathy 1702
HP:0012179HP:0012179Craniofacial dystonia0COL6A3 CL E G H12932213ORPHA:75840Congenital muscular dystrophy, Ullrich type702
HP:0012179HP:0012179Craniofacial dystonia0COL6A3 CL E G H12932213OMIM:616411Dystonia 27702
HP:0012179HP:0012179Craniofacial dystonia0COL6A3 CL E G H12932213ORPHA:464440Primary dystonia, DYT27 type702
HP:0012179HP:0012179Craniofacial dystonia0COL6A3 CL E G H12932213OMIM:254090Ullrich congenital muscular dystrophy 1702
HP:0012179HP:0012179Craniofacial dystonia0COLEC11 CL E G H7898917213OMIM:2650503mc syndrome 29
HP:0012179HP:0012179Craniofacial dystonia0COX20 CL E G H11622826970OMIM:619054MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN1125
HP:0012179HP:0012179Craniofacial dystonia0CP CL E G H13562295ORPHA:48818AceruloplasminemiaHP:0040283 - Occasional115
HP:0012179HP:0012179Craniofacial dystonia0CP CL E G H13562295OMIM:604290ACERULOPLASMINEMIA115
HP:0012179HP:0012179Craniofacial dystonia0CPLX1 CL E G H108152309ORPHA:352582Familial infantile myoclonic epilepsy1
HP:0012179HP:0012179Craniofacial dystonia0DDC CL E G H16442719OMIM:608643Aromatic L-amino acid decarboxylase deficiency43
HP:0012179HP:0012179Craniofacial dystonia0DRD2 CL E G H18133023ORPHA:36899Myoclonus-dystonia syndrome16
HP:0012179HP:0012179Craniofacial dystonia0DRD5 CL E G H18163026OMIM:606798Blepharospasm, benign essential, susceptibility to3
HP:0012179HP:0012179Craniofacial dystonia0FGFR2 CL E G H22633689ORPHA:794Saethre-Chotzen syndrome175
HP:0012179HP:0012179Craniofacial dystonia0FGFR3 CL E G H22613690ORPHA:794Saethre-Chotzen syndrome145
HP:0012179HP:0012179Craniofacial dystonia0FLI1 CL E G H23133749ORPHA:370348Peripheral primitive neuroectodermal tumor8
HP:0012179HP:0012179Craniofacial dystonia0FTL CL E G H25123999OMIM:606159Neurodegeneration with brain iron accumulation 333
HP:0012179HP:0012179Craniofacial dystonia0FTL CL E G H25123999ORPHA:157846Neuroferritinopathy33
HP:0012179HP:0012179Craniofacial dystonia0FUS CL E G H25214010ORPHA:300605Juvenile amyotrophic lateral sclerosis105
HP:0012179HP:0012179Craniofacial dystonia0GCH1 CL E G H26434193ORPHA:98808Autosomal dominant dopa-responsive dystonia86
HP:0012179HP:0012179Craniofacial dystonia0GCH1 CL E G H26434193OMIM:128230Dystonia, DOPA-responsive, with or without hyperphenylalaninemia86
HP:0012179HP:0012179Craniofacial dystonia0GDAP2 CL E G H5483418010OMIM:618369Spinocerebellar ataxia, autosomal recessive 27
HP:0012179HP:0012179Craniofacial dystonia0GNAL CL E G H27744388ORPHA:329466Autosomal dominant focal dystonia, DYT25 typeHP:0040282 - Frequent13
HP:0012179HP:0012179Craniofacial dystonia0GNAL CL E G H27744388OMIM:615073Dystonia 2513
HP:0012179HP:0012179Craniofacial dystonia0HK1 CL E G H30984922OMIM:618547NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA11
HP:0012179HP:0012179Craniofacial dystonia0HPCA CL E G H32085144OMIM:224500Dystonia 2, torsion, autosomal recessive4
HP:0012179HP:0012179Craniofacial dystonia0HPCA CL E G H32085144ORPHA:99657Primary dystonia, DYT2 type4
HP:0012179HP:0012179Craniofacial dystonia0HSPG2 CL E G H33395273ORPHA:800Schwartz-Jampel syndrome345
HP:0012179HP:0012179Craniofacial dystonia0IMPDH2 CL E G H36156053ORPHA:98808Autosomal dominant dopa-responsive dystonia1
HP:0012179HP:0012179Craniofacial dystonia0ITGA7 CL E G H36796143OMIM:613204Muscular dystrophy, congenital, due to integrin alpha-7 deficiency127
HP:0012179HP:0012179Craniofacial dystonia0KCNC3 CL E G H37486235ORPHA:98768Spinocerebellar ataxia type 1317
HP:0012179HP:0012179Craniofacial dystonia0KCNN2 CL E G H37816291OMIM:619724DYSTONIA 34, MYOCLONIC; DYT34
HP:0012179HP:0012179Craniofacial dystonia0KCTD17 CL E G H7973425705OMIM:616398Dystonia 26, myoclonic1
HP:0012179HP:0012179Craniofacial dystonia0KCTD17 CL E G H7973425705ORPHA:36899Myoclonus-dystonia syndrome1
HP:0012179HP:0012179Craniofacial dystonia0KIF1C CL E G H107496317ORPHA:397946Autosomal spastic paraplegia type 5838
HP:0012179HP:0012179Craniofacial dystonia0KMT2B CL E G H975715840ORPHA:589618Dystonia 2811
HP:0012179HP:0012179Craniofacial dystonia0KMT2B CL E G H975715840OMIM:617284Dystonia 28, childhood-onset.11
HP:0012179HP:0012179Craniofacial dystonia0MAFB CL E G H99356408ORPHA:233Duane retraction syndrome63
HP:0012179HP:0012179Craniofacial dystonia0MAPT CL E G H41376893ORPHA:240071Classic progressive supranuclear palsy syndrome140
HP:0012179HP:0012179Craniofacial dystonia0MAPT CL E G H41376893ORPHA:240094Progressive supranuclear palsy-pure akinesia with gait freezing syndrome140
HP:0012179HP:0012179Craniofacial dystonia0MAPT CL E G H41376893OMIM:601104Supranuclear palsy, progressive, 1140
HP:0012179HP:0012179Craniofacial dystonia0MECR CL E G H5110219691OMIM:617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities.6
HP:0012179HP:0012179Craniofacial dystonia0MECR CL E G H5110219691ORPHA:508093MEPAN syndrome6
HP:0012179HP:0012179Craniofacial dystonia0MYF5 CL E G H46177565OMIM:618155Ophthalmoplegia, external, with rib and vertebral anomalies
HP:0012179HP:0012179Craniofacial dystonia0NAA10 CL E G H826018704ORPHA:276432Ogden syndrome23
HP:0012179HP:0012179Craniofacial dystonia0NAA10 CL E G H826018704OMIM:300855Ogden syndrome23
HP:0012179HP:0012179Craniofacial dystonia0NAXE CL E G H12824018453OMIM:617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 19
HP:0012179HP:0012179Craniofacial dystonia0NDUFA6 CL E G H47007690OMIM:618253Mitochondrial complex I deficiency, nuclear type 331
HP:0012179HP:0012179Craniofacial dystonia0NEK9 CL E G H9175418591OMIM:617022Lethal congenital contracture syndrome 109
HP:0012179HP:0012179Craniofacial dystonia0NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndrome32
HP:0012179HP:0012179Craniofacial dystonia0NKX6-2 CL E G H8450419321OMIM:617560Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy2
HP:0012179HP:0012179Craniofacial dystonia0NR4A2 CL E G H49297981ORPHA:98808Autosomal dominant dopa-responsive dystonia27
HP:0012179HP:0012179Craniofacial dystonia0PANK2 CL E G H8002515894ORPHA:216873Atypical pantothenate kinase-associated neurodegeneration55
HP:0012179HP:0012179Craniofacial dystonia0PANK2 CL E G H8002515894OMIM:234200Neurodegeneration with brain iron accumulation 155
HP:0012179HP:0012179Craniofacial dystonia0PARK7 CL E G H1131516369OMIM:606324PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK723
HP:0012179HP:0012179Craniofacial dystonia0PCGF2 CL E G H770312929OMIM:618371Turnpenny-Fry syndrome
HP:0012179HP:0012179Craniofacial dystonia0PNKD CL E G H259539153ORPHA:98810Paroxysmal non-kinesigenic dyskinesia66
HP:0012179HP:0012179Craniofacial dystonia0PNKD CL E G H259539153OMIM:118800Paroxysmal nonkinesigenic dyskinesia 166
HP:0012179HP:0012179Craniofacial dystonia0POLR1B CL E G H8417220454ORPHA:861Treacher-Collins syndrome
HP:0012179HP:0012179Craniofacial dystonia0POLR1C CL E G H953320194ORPHA:861Treacher-Collins syndrome38
HP:0012179HP:0012179Craniofacial dystonia0POLR1D CL E G H5108220422ORPHA:861Treacher-Collins syndrome31
HP:0012179HP:0012179Craniofacial dystonia0PRDX3 CL E G H109359354OMIM:619862
HP:0012179HP:0012179Craniofacial dystonia0PRKAR1B CL E G H55759390OMIM:619680MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS2
HP:0012179HP:0012179Craniofacial dystonia0PRKRA CL E G H85759438ORPHA:210571Dystonia 1637
HP:0012179HP:0012179Craniofacial dystonia0PRKRA CL E G H85759438OMIM:612067Dystonia 1637
HP:0012179HP:0012179Craniofacial dystonia0PRRT2 CL E G H11247630500ORPHA:98810Paroxysmal non-kinesigenic dyskinesia94
HP:0012179HP:0012179Craniofacial dystonia0REEP1 CL E G H6505525786OMIM:62001187
HP:0012179HP:0012179Craniofacial dystonia0RNF170 CL E G H8179025358OMIM:619686SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG853
HP:0012179HP:0012179Craniofacial dystonia0ROBO3 CL E G H6422113433OMIM:607313Gaze palsy, familial horizontal, with progressive scoliosis, 190
HP:0012179HP:0012179Craniofacial dystonia0SALL4 CL E G H5716715924ORPHA:233Duane retraction syndrome86
HP:0012179HP:0012179Craniofacial dystonia0SCP2 CL E G H634210606OMIM:613724Leukoencephalopathy with dystonia and motor neuropathy4
HP:0012179HP:0012179Craniofacial dystonia0SGCE CL E G H891010808OMIM:159900Dystonia 11, myoclonic49
HP:0012179HP:0012179Craniofacial dystonia0SGCE CL E G H891010808ORPHA:36899Myoclonus-dystonia syndrome49
HP:0012179HP:0012179Craniofacial dystonia0SIGMAR1 CL E G H102808157ORPHA:300605Juvenile amyotrophic lateral sclerosis6
HP:0012179HP:0012179Craniofacial dystonia0SLC19A3 CL E G H8070416266OMIM:607483Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2).110
HP:0012179HP:0012179Craniofacial dystonia0SLC39A14 CL E G H2351620858ORPHA:521406Dystonia-parkinsonism-hypermanganesemia syndrome5
HP:0012179HP:0012179Craniofacial dystonia0SLC39A14 CL E G H2351620858OMIM:617013Hypermanganesemia with dystonia 25
HP:0012179HP:0012179Craniofacial dystonia0SLC6A3 CL E G H653111049OMIM:613135Parkinsonism-Dystonia, infantile, 113
HP:0012179HP:0012179Craniofacial dystonia0SOX10 CL E G H666311190OMIM:609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease61
HP:0012179HP:0012179Craniofacial dystonia0SPG11 CL E G H8020811226ORPHA:300605Juvenile amyotrophic lateral sclerosis287
HP:0012179HP:0012179Craniofacial dystonia0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0012179HP:0012179Craniofacial dystonia0SPTLC1 CL E G H1055811277ORPHA:300605Juvenile amyotrophic lateral sclerosis54
HP:0012179HP:0012179Craniofacial dystonia0STARD7 CL E G H5691018063OMIM:607876Epilepsy, familial adult myoclonic, 2
HP:0012179HP:0012179Craniofacial dystonia0SUPT16H CL E G H1119811465OMIM:619480NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0012179HP:0012179Craniofacial dystonia0SYNGAP1 CL E G H883111497OMIM:612621Mental retardation, autosomal dominant 5108
HP:0012179HP:0012179Craniofacial dystonia0TAF1 CL E G H687211535ORPHA:53351X-linked dystonia-parkinsonism21
HP:0012179HP:0012179Craniofacial dystonia0TBC1D24 CL E G H5746529203ORPHA:352582Familial infantile myoclonic epilepsy271
HP:0012179HP:0012179Craniofacial dystonia0TBP CL E G H690811588ORPHA:98759Spinocerebellar ataxia type 177
HP:0012179HP:0012179Craniofacial dystonia0TCOF1 CL E G H694911654ORPHA:861Treacher-Collins syndrome140
HP:0012179HP:0012179Craniofacial dystonia0TGFB2 CL E G H704211768OMIM:614816LOEYS-DIETZ SYNDROME 4; LDS4162
HP:0012179HP:0012179Craniofacial dystonia0TGM6 CL E G H34364116255OMIM:613908Spinocerebellar ataxia 3558
HP:0012179HP:0012179Craniofacial dystonia0TGM6 CL E G H34364116255ORPHA:276193Spinocerebellar ataxia type 3558
HP:0012179HP:0012179Craniofacial dystonia0THAP1 CL E G H5514520856OMIM:602629Dystonia 6, torsion42
HP:0012179HP:0012179Craniofacial dystonia0THAP1 CL E G H5514520856ORPHA:98806Primary dystonia, DYT6 typeHP:0040283 - Occasional42
HP:0012179HP:0012179Craniofacial dystonia0TIMM8A CL E G H167811817ORPHA:52368Mohr-Tranebjaerg syndrome15
HP:0012179HP:0012179Craniofacial dystonia0TOR1A CL E G H18613098OMIM:128100Dystonia 1, torsion, autosomal dominant47
HP:0012179HP:0012179Craniofacial dystonia0TOR1A CL E G H18613098ORPHA:36899Myoclonus-dystonia syndrome47
HP:0012179HP:0012179Craniofacial dystonia0TRPV4 CL E G H5934118083OMIM:181405Scapuloperoneal spinal muscular atrophy214
HP:0012179HP:0012179Craniofacial dystonia0TUBB3 CL E G H1038120772ORPHA:300570Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation64
HP:0012179HP:0012179Craniofacial dystonia0TUBB4A CL E G H1038220774OMIM:128101Dystonia 4, torsion, autosomal dominant66
HP:0012179HP:0012179Craniofacial dystonia0TUBB4A CL E G H1038220774ORPHA:98805Primary dystonia, DYT4 type66
HP:0012179HP:0012179Craniofacial dystonia0TWIST1 CL E G H729112428ORPHA:794Saethre-Chotzen syndrome18
HP:0012179HP:0012179Craniofacial dystonia0VAC14 CL E G H5569725507OMIM:617054Striatonigral degeneration, childhood-onset.6
HP:0012179HP:0012179Craniofacial dystonia0VPS11 CL E G H5582314583OMIM:619637DYSTONIA 32; DYT321
HP:0012179HP:0012179Craniofacial dystonia0VPS13A CL E G H232301908ORPHA:2388Choreoacanthocytosis130
HP:0012179HP:0012179Craniofacial dystonia0VPS16 CL E G H6460114584OMIM:619291DYSTONIA 30; DYT30
HP:0012179HP:0012179Craniofacial dystonia0ZNF142 CL E G H770112927OMIM:618425Neurodevelopmental disorder with impaired speech and hyperkinetic movements
HP:0012179HP:0031007Orofacial action-specific dystonia induced by speech1 CL E G H
HP:0012179HP:0000643Blepharospasm1AARS1 CL E G H1620OMIM:616339Epileptic encephalopathy, early infantile, 29.
HP:0012179HP:0000473Torticollis1ACTA1 CL E G H58129ORPHA:97240Zebra body myopathyHP:0040281 - Very frequent96
HP:0012179HP:0000473Torticollis1ALG9 CL E G H7979615672ORPHA:79328ALG9-CDGHP:0040283 - Occasional93
HP:0012179HP:0000473Torticollis1ALS2 CL E G H57679443OMIM:205100Amyotrophic lateral sclerosis 2, juvenile114
HP:0012179HP:0012048Oromandibular dystonia1ALS2 CL E G H57679443ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional114
HP:0012179HP:0000473Torticollis1ALS2 CL E G H57679443ORPHA:300605Juvenile amyotrophic lateral sclerosis114
HP:0012179HP:0000643Blepharospasm1ANO3 CL E G H6398214004ORPHA:420485Cranio-cervical dystonia with laryngeal and upper-limb involvementHP:0040282 - Frequent17
HP:0012179HP:0012048Oromandibular dystonia1ANO3 CL E G H6398214004ORPHA:420485Cranio-cervical dystonia with laryngeal and upper-limb involvementHP:0040283 - Occasional17
HP:0012179HP:0000473Torticollis1ANO3 CL E G H6398214004ORPHA:420485Cranio-cervical dystonia with laryngeal and upper-limb involvementHP:0040282 - Frequent17
HP:0012179HP:0012048Oromandibular dystonia1ANO3 CL E G H6398214004OMIM:615034Dystonia 24HP:0040283 - Occasional17
HP:0012179HP:0000473Torticollis1ANO3 CL E G H6398214004OMIM:615034Dystonia 24.17
HP:0012179HP:0000643Blepharospasm1ANO3 CL E G H6398214004OMIM:615034Dystonia 24HP:0040283 - Occasional17
HP:0012179HP:0000643Blepharospasm1ATN1 CL E G H18223033ORPHA:101Dentatorubral pallidoluysian atrophyHP:0040283 - Occasional16
HP:0012179HP:0012048Oromandibular dystonia1ATN1 CL E G H18223033ORPHA:101Dentatorubral pallidoluysian atrophyHP:0040283 - Occasional16
HP:0012179HP:0031008Lingual dystonia1ATP13A2 CL E G H2340030213ORPHA:306674Kufor-Rakeb syndromeHP:0040283 - Occasional100
HP:0012179HP:0000643Blepharospasm1ATP13A2 CL E G H2340030213ORPHA:306674Kufor-Rakeb syndromeHP:0040283 - Occasional100
HP:0012179HP:0000473Torticollis1ATP13A2 CL E G H2340030213OMIM:606693Kufor-Rakeb syndrome.100
HP:0012179HP:0000473Torticollis1ATP1A3 CL E G H478801OMIM:128235Dystonia 12.150
HP:0012179HP:0000473Torticollis1ATP1A3 CL E G H478801ORPHA:71517Rapid-onset dystonia-parkinsonismHP:0040282 - Frequent150
HP:0012179HP:0000473Torticollis1B3GALT6 CL E G H12679217978ORPHA:536467B3GALT6-related spondylodysplastic Ehlers-Danlos syndromeHP:0040283 - Occasional38
HP:0012179HP:0012048Oromandibular dystonia1C19ORF12 CL E G H8363625443OMIM:614298Neurodegeneration with brain iron accumulation 4.114
HP:0012179HP:0000473Torticollis1CACNA1A CL E G H7731388ORPHA:71518Benign paroxysmal torticollis of infancyHP:0040281 - Very frequent449
HP:0012179HP:0000473Torticollis1CACNA1A CL E G H7731388ORPHA:97Familial paroxysmal ataxiaHP:0040283 - Occasional449
HP:0012179HP:0000643Blepharospasm1CACNA1A CL E G H7731388ORPHA:98758Spinocerebellar ataxia type 6HP:0040283 - Occasional449
HP:0012179HP:0000473Torticollis1CDK10 CL E G H85581770OMIM:617694Al Kaissi syndrome.2
HP:0012179HP:0000473Torticollis1CEP85L CL E G H38711921638OMIM:618873LISSENCEPHALY 10; LIS101
HP:0012179HP:0000643Blepharospasm1CHN1 CL E G H11231943ORPHA:233Duane retraction syndromeHP:0040283 - Occasional35
HP:0012179HP:0000473Torticollis1CIZ1 CL E G H2579216744ORPHA:420492Adult-onset cervical dystonia, DYT23 typeHP:0040282 - Frequent16
HP:0012179HP:0000473Torticollis1CNP CL E G H12672158OMIM:619071LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20
HP:0012179HP:0012048Oromandibular dystonia1COASY CL E G H8034729932ORPHA:397725COASY protein-associated neurodegenerationHP:0040281 - Very frequent16
HP:0012179HP:0012048Oromandibular dystonia1COASY CL E G H8034729932OMIM:615643Neurodegeneration with brain iron accumulation 6.16
HP:0012179HP:0000473Torticollis1COL12A1 CL E G H13032188ORPHA:75840Congenital muscular dystrophy, Ullrich typeHP:0040282 - Frequent65
HP:0012179HP:0000473Torticollis1COL6A1 CL E G H12912211OMIM:158810Bethlem myopathy 1.HP:0003577 - Congenital onset442
HP:0012179HP:0000473Torticollis1COL6A1 CL E G H12912211ORPHA:75840Congenital muscular dystrophy, Ullrich typeHP:0040282 - Frequent442
HP:0012179HP:0000473Torticollis1COL6A1 CL E G H12912211OMIM:254090Ullrich congenital muscular dystrophy 1.442
HP:0012179HP:0000473Torticollis1COL6A2 CL E G H12922212OMIM:158810Bethlem myopathy 1.HP:0003577 - Congenital onset478
HP:0012179HP:0000473Torticollis1COL6A2 CL E G H12922212ORPHA:75840Congenital muscular dystrophy, Ullrich typeHP:0040282 - Frequent478
HP:0012179HP:0000473Torticollis1COL6A2 CL E G H12922212OMIM:254090Ullrich congenital muscular dystrophy 1.478
HP:0012179HP:0000473Torticollis1COL6A3 CL E G H12932213OMIM:158810Bethlem myopathy 1.HP:0003577 - Congenital onset702
HP:0012179HP:0000473Torticollis1COL6A3 CL E G H12932213ORPHA:75840Congenital muscular dystrophy, Ullrich typeHP:0040282 - Frequent702
HP:0012179HP:0012048Oromandibular dystonia1COL6A3 CL E G H12932213OMIM:616411Dystonia 27.702
HP:0012179HP:0000473Torticollis1COL6A3 CL E G H12932213OMIM:616411Dystonia 27702
HP:0012179HP:0012048Oromandibular dystonia1COL6A3 CL E G H12932213ORPHA:464440Primary dystonia, DYT27 typeHP:0040281 - Very frequent702
HP:0012179HP:0000473Torticollis1COL6A3 CL E G H12932213OMIM:254090Ullrich congenital muscular dystrophy 1.702
HP:0012179HP:0000473Torticollis1COLEC11 CL E G H7898917213OMIM:2650503mc syndrome 2.9
HP:0012179HP:0000473Torticollis1COX20 CL E G H11622826970OMIM:619054MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN1125
HP:0012179HP:0000473Torticollis1CP CL E G H13562295OMIM:604290ACERULOPLASMINEMIA.115
HP:0012179HP:0000643Blepharospasm1CP CL E G H13562295ORPHA:48818AceruloplasminemiaHP:0040283 - Occasional115
HP:0012179HP:0000643Blepharospasm1CP CL E G H13562295OMIM:604290ACERULOPLASMINEMIA.115
HP:0012179HP:0000473Torticollis1CP CL E G H13562295ORPHA:48818AceruloplasminemiaHP:0040283 - Occasional115
HP:0012179HP:0000643Blepharospasm1CPLX1 CL E G H108152309ORPHA:352582Familial infantile myoclonic epilepsyHP:0040283 - Occasional1
HP:0012179HP:0000643Blepharospasm1DDC CL E G H16442719OMIM:608643Aromatic L-amino acid decarboxylase deficiency43
HP:0012179HP:0000473Torticollis1DDC CL E G H16442719OMIM:608643Aromatic L-amino acid decarboxylase deficiency43
HP:0012179HP:0000473Torticollis1DRD2 CL E G H18133023ORPHA:36899Myoclonus-dystonia syndromeHP:0040282 - Frequent16
HP:0012179HP:0000643Blepharospasm1DRD5 CL E G H18163026OMIM:606798Blepharospasm, benign essential, susceptibility to.3
HP:0012179HP:0000643Blepharospasm1FGFR2 CL E G H22633689ORPHA:794Saethre-Chotzen syndromeHP:0040282 - Frequent175
HP:0012179HP:0000643Blepharospasm1FGFR3 CL E G H22613690ORPHA:794Saethre-Chotzen syndromeHP:0040282 - Frequent145
HP:0012179HP:0000473Torticollis1FLI1 CL E G H23133749ORPHA:370348Peripheral primitive neuroectodermal tumorHP:0040283 - Occasional8
HP:0012179HP:0000643Blepharospasm1FTL CL E G H25123999OMIM:606159Neurodegeneration with brain iron accumulation 3.33
HP:0012179HP:0000643Blepharospasm1FTL CL E G H25123999ORPHA:157846NeuroferritinopathyHP:0040283 - Occasional33
HP:0012179HP:0012048Oromandibular dystonia1FUS CL E G H25214010ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional105
HP:0012179HP:0000473Torticollis1FUS CL E G H25214010ORPHA:300605Juvenile amyotrophic lateral sclerosis105
HP:0012179HP:0000473Torticollis1GCH1 CL E G H26434193ORPHA:98808Autosomal dominant dopa-responsive dystoniaHP:0040282 - Frequent86
HP:0012179HP:0000473Torticollis1GCH1 CL E G H26434193OMIM:128230Dystonia, DOPA-responsive, with or without hyperphenylalaninemia86
HP:0012179HP:0000473Torticollis1GDAP2 CL E G H5483418010OMIM:618369Spinocerebellar ataxia, autosomal recessive 27.
HP:0012179HP:0000473Torticollis1GNAL CL E G H27744388ORPHA:329466Autosomal dominant focal dystonia, DYT25 typeHP:0040282 - Frequent13
HP:0012179HP:0031008Lingual dystonia1GNAL CL E G H27744388ORPHA:329466Autosomal dominant focal dystonia, DYT25 typeHP:0040282 - Frequent13
HP:0012179HP:0000473Torticollis1GNAL CL E G H27744388OMIM:615073Dystonia 25.13
HP:0012179HP:0031008Lingual dystonia1GNAL CL E G H27744388OMIM:615073Dystonia 25.13
HP:0012179HP:0000473Torticollis1HK1 CL E G H30984922OMIM:618547NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA11
HP:0012179HP:0000643Blepharospasm1HPCA CL E G H32085144OMIM:224500Dystonia 2, torsion, autosomal recessive.4
HP:0012179HP:0000473Torticollis1HPCA CL E G H32085144OMIM:224500Dystonia 2, torsion, autosomal recessive.4
HP:0012179HP:0000473Torticollis1HPCA CL E G H32085144ORPHA:99657Primary dystonia, DYT2 typeHP:0040282 - Frequent4
HP:0012179HP:0000643Blepharospasm1HPCA CL E G H32085144ORPHA:99657Primary dystonia, DYT2 typeHP:0040282 - Frequent4
HP:0012179HP:0000643Blepharospasm1HSPG2 CL E G H33395273ORPHA:800Schwartz-Jampel syndromeHP:0040283 - Occasional345
HP:0012179HP:0000473Torticollis1IMPDH2 CL E G H36156053ORPHA:98808Autosomal dominant dopa-responsive dystoniaHP:0040282 - Frequent1
HP:0012179HP:0000473Torticollis1ITGA7 CL E G H36796143OMIM:613204Muscular dystrophy, congenital, due to integrin alpha-7 deficiency127
HP:0012179HP:0000473Torticollis1KCNC3 CL E G H37486235ORPHA:98768Spinocerebellar ataxia type 13HP:0040283 - Occasional17
HP:0012179HP:0000473Torticollis1KCNN2 CL E G H37816291OMIM:619724DYSTONIA 34, MYOCLONIC; DYT34
HP:0012179HP:0000643Blepharospasm1KCTD17 CL E G H7973425705OMIM:616398Dystonia 26, myoclonic.1
HP:0012179HP:0000473Torticollis1KCTD17 CL E G H7973425705OMIM:616398Dystonia 26, myoclonic.1
HP:0012179HP:0000473Torticollis1KCTD17 CL E G H7973425705ORPHA:36899Myoclonus-dystonia syndromeHP:0040282 - Frequent1
HP:0012179HP:0000473Torticollis1KIF1C CL E G H107496317ORPHA:397946Autosomal spastic paraplegia type 58HP:0040284 - Very rare38
HP:0012179HP:0012048Oromandibular dystonia1KMT2B CL E G H975715840ORPHA:589618Dystonia 2811
HP:0012179HP:0000473Torticollis1KMT2B CL E G H975715840ORPHA:589618Dystonia 2811
HP:0012179HP:0000473Torticollis1KMT2B CL E G H975715840OMIM:617284Dystonia 28, childhood-onset.11
HP:0012179HP:0012048Oromandibular dystonia1KMT2B CL E G H975715840OMIM:617284Dystonia 28, childhood-onset.11
HP:0012179HP:0000643Blepharospasm1MAFB CL E G H99356408ORPHA:233Duane retraction syndromeHP:0040283 - Occasional63
HP:0012179HP:0000643Blepharospasm1MAPT CL E G H41376893ORPHA:240071Classic progressive supranuclear palsy syndromeHP:0040282 - Frequent140
HP:0012179HP:0000643Blepharospasm1MAPT CL E G H41376893ORPHA:240094Progressive supranuclear palsy-pure akinesia with gait freezing syndromeHP:0040284 - Very rare140
HP:0012179HP:0000473Torticollis1MAPT CL E G H41376893OMIM:601104Supranuclear palsy, progressive, 1140
HP:0012179HP:0000643Blepharospasm1MECR CL E G H5110219691OMIM:617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities6
HP:0012179HP:0000473Torticollis1MYF5 CL E G H46177565OMIM:618155Ophthalmoplegia, external, with rib and vertebral anomalies.
HP:0012179HP:0000473Torticollis1NAA10 CL E G H826018704OMIM:300855Ogden syndrome23
HP:0012179HP:0000473Torticollis1NAA10 CL E G H826018704ORPHA:276432Ogden syndromeHP:0040282 - Frequent23
HP:0012179HP:0000473Torticollis1NAXE CL E G H12824018453OMIM:617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 19
HP:0012179HP:0000473Torticollis1NEK9 CL E G H9175418591OMIM:617022Lethal congenital contracture syndrome 10.9
HP:0012179HP:0031008Lingual dystonia1NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndromeHP:0040283 - Occasional32
HP:0012179HP:0000473Torticollis1NKX6-2 CL E G H8450419321OMIM:617560Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy2
HP:0012179HP:0000473Torticollis1NR4A2 CL E G H49297981ORPHA:98808Autosomal dominant dopa-responsive dystoniaHP:0040282 - Frequent27
HP:0012179HP:0012048Oromandibular dystonia1PANK2 CL E G H8002515894ORPHA:216873Atypical pantothenate kinase-associated neurodegenerationHP:0040283 - Occasional55
HP:0012179HP:0000643Blepharospasm1PANK2 CL E G H8002515894OMIM:234200Neurodegeneration with brain iron accumulation 1.55
HP:0012179HP:0000643Blepharospasm1PARK7 CL E G H1131516369OMIM:606324PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK723
HP:0012179HP:0000473Torticollis1PCGF2 CL E G H770312929OMIM:618371Turnpenny-Fry syndrome.
HP:0012179HP:0000473Torticollis1PNKD CL E G H259539153ORPHA:98810Paroxysmal non-kinesigenic dyskinesiaHP:0040283 - Occasional66
HP:0012179HP:0000473Torticollis1PNKD CL E G H259539153OMIM:118800Paroxysmal nonkinesigenic dyskinesia 1.66
HP:0012179HP:0000643Blepharospasm1POLR1B CL E G H8417220454ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional
HP:0012179HP:0000643Blepharospasm1POLR1C CL E G H953320194ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional38
HP:0012179HP:0000643Blepharospasm1POLR1D CL E G H5108220422ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional31
HP:0012179HP:0000473Torticollis1PRDX3 CL E G H109359354OMIM:619862
HP:0012179HP:0000473Torticollis1PRKAR1B CL E G H55759390OMIM:619680MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS2
HP:0012179HP:0000473Torticollis1PRKRA CL E G H85759438OMIM:612067Dystonia 1637
HP:0012179HP:0000473Torticollis1PRKRA CL E G H85759438ORPHA:210571Dystonia 16HP:0040282 - Frequent37
HP:0012179HP:0000473Torticollis1PRRT2 CL E G H11247630500ORPHA:98810Paroxysmal non-kinesigenic dyskinesiaHP:0040283 - Occasional94
HP:0012179HP:0000473Torticollis1RNF170 CL E G H8179025358OMIM:619686SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG853
HP:0012179HP:0000473Torticollis1ROBO3 CL E G H6422113433OMIM:607313Gaze palsy, familial horizontal, with progressive scoliosis, 190
HP:0012179HP:0000643Blepharospasm1SALL4 CL E G H5716715924ORPHA:233Duane retraction syndromeHP:0040283 - Occasional86
HP:0012179HP:0000473Torticollis1SCP2 CL E G H634210606OMIM:613724Leukoencephalopathy with dystonia and motor neuropathy.4
HP:0012179HP:0000473Torticollis1SGCE CL E G H891010808OMIM:159900Dystonia 11, myoclonic.49
HP:0012179HP:0000473Torticollis1SGCE CL E G H891010808ORPHA:36899Myoclonus-dystonia syndromeHP:0040282 - Frequent49
HP:0012179HP:0012048Oromandibular dystonia1SIGMAR1 CL E G H102808157ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional6
HP:0012179HP:0000473Torticollis1SIGMAR1 CL E G H102808157ORPHA:300605Juvenile amyotrophic lateral sclerosis6
HP:0012179HP:0012048Oromandibular dystonia1SLC39A14 CL E G H2351620858ORPHA:521406Dystonia-parkinsonism-hypermanganesemia syndromeHP:0040282 - Frequent5
HP:0012179HP:0012048Oromandibular dystonia1SLC39A14 CL E G H2351620858OMIM:617013Hypermanganesemia with dystonia 2.5
HP:0012179HP:0012048Oromandibular dystonia1SLC6A3 CL E G H653111049OMIM:613135Parkinsonism-Dystonia, infantile, 113
HP:0012179HP:0000473Torticollis1SOX10 CL E G H666311190OMIM:609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease61
HP:0012179HP:0012048Oromandibular dystonia1SPG11 CL E G H8020811226ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional287
HP:0012179HP:0000473Torticollis1SPG11 CL E G H8020811226ORPHA:300605Juvenile amyotrophic lateral sclerosis287
HP:0012179HP:0000473Torticollis1SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0012179HP:0000473Torticollis1SPTLC1 CL E G H1055811277ORPHA:300605Juvenile amyotrophic lateral sclerosis54
HP:0012179HP:0012048Oromandibular dystonia1SPTLC1 CL E G H1055811277ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional54
HP:0012179HP:0000643Blepharospasm1STARD7 CL E G H5691018063OMIM:607876Epilepsy, familial adult myoclonic, 2.
HP:0012179HP:0000473Torticollis1SUPT16H CL E G H1119811465OMIM:619480NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0012179HP:0000473Torticollis1SYNGAP1 CL E G H883111497OMIM:612621Mental retardation, autosomal dominant 5HP:0040283 - Occasional108
HP:0012179HP:0000643Blepharospasm1TAF1 CL E G H687211535ORPHA:53351X-linked dystonia-parkinsonismHP:0040282 - Frequent21
HP:0012179HP:0000643Blepharospasm1TBC1D24 CL E G H5746529203ORPHA:352582Familial infantile myoclonic epilepsyHP:0040283 - Occasional271
HP:0012179HP:0000643Blepharospasm1TBP CL E G H690811588ORPHA:98759Spinocerebellar ataxia type 17HP:0040282 - Frequent7
HP:0012179HP:0000473Torticollis1TBP CL E G H690811588ORPHA:98759Spinocerebellar ataxia type 17HP:0040282 - Frequent7
HP:0012179HP:0000643Blepharospasm1TCOF1 CL E G H694911654ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional140
HP:0012179HP:0000473Torticollis1TGFB2 CL E G H704211768OMIM:614816LOEYS-DIETZ SYNDROME 4; LDS4162
HP:0012179HP:0000473Torticollis1TGM6 CL E G H34364116255OMIM:613908Spinocerebellar ataxia 35.58
HP:0012179HP:0000473Torticollis1TGM6 CL E G H34364116255ORPHA:276193Spinocerebellar ataxia type 35HP:0040283 - Occasional58
HP:0012179HP:0000473Torticollis1THAP1 CL E G H5514520856OMIM:602629Dystonia 6, torsion.42
HP:0012179HP:0012048Oromandibular dystonia1THAP1 CL E G H5514520856OMIM:602629Dystonia 6, torsion.42
HP:0012179HP:0031008Lingual dystonia1THAP1 CL E G H5514520856OMIM:602629Dystonia 6, torsion.42
HP:0012179HP:0000473Torticollis1THAP1 CL E G H5514520856ORPHA:98806Primary dystonia, DYT6 typeHP:0040283 - Occasional42
HP:0012179HP:0000643Blepharospasm1THAP1 CL E G H5514520856ORPHA:98806Primary dystonia, DYT6 typeHP:0040283 - Occasional42
HP:0012179HP:0031008Lingual dystonia1THAP1 CL E G H5514520856ORPHA:98806Primary dystonia, DYT6 typeHP:0040283 - Occasional42
HP:0012179HP:0012048Oromandibular dystonia1TIMM8A CL E G H167811817ORPHA:52368Mohr-Tranebjaerg syndromeHP:0040282 - Frequent15
HP:0012179HP:0000643Blepharospasm1TOR1A CL E G H18613098OMIM:128100Dystonia 1, torsion, autosomal dominant.47
HP:0012179HP:0000473Torticollis1TOR1A CL E G H18613098OMIM:128100Dystonia 1, torsion, autosomal dominant.47
HP:0012179HP:0012048Oromandibular dystonia1TOR1A CL E G H18613098OMIM:128100Dystonia 1, torsion, autosomal dominant47
HP:0012179HP:0000473Torticollis1TOR1A CL E G H18613098ORPHA:36899Myoclonus-dystonia syndromeHP:0040282 - Frequent47
HP:0012179HP:0000473Torticollis1TRPV4 CL E G H5934118083OMIM:181405Scapuloperoneal spinal muscular atrophy.214
HP:0012179HP:0000473Torticollis1TUBB3 CL E G H1038120772ORPHA:300570Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutationHP:0040283 - Occasional64
HP:0012179HP:0000473Torticollis1TUBB4A CL E G H1038220774OMIM:128101Dystonia 4, torsion, autosomal dominant.66
HP:0012179HP:0000643Blepharospasm1TUBB4A CL E G H1038220774ORPHA:98805Primary dystonia, DYT4 typeHP:0040283 - Occasional66
HP:0012179HP:0000473Torticollis1TUBB4A CL E G H1038220774ORPHA:98805Primary dystonia, DYT4 typeHP:0040282 - Frequent66
HP:0012179HP:0000643Blepharospasm1TWIST1 CL E G H729112428ORPHA:794Saethre-Chotzen syndromeHP:0040282 - Frequent18
HP:0012179HP:0000473Torticollis1VPS11 CL E G H5582314583OMIM:619637DYSTONIA 32; DYT321
HP:0012179HP:0031008Lingual dystonia1VPS13A CL E G H232301908ORPHA:2388ChoreoacanthocytosisHP:0040283 - Occasional130
HP:0012179HP:0000643Blepharospasm1VPS13A CL E G H232301908ORPHA:2388ChoreoacanthocytosisHP:0040283 - Occasional130
HP:0012179HP:0012048Oromandibular dystonia1VPS13A CL E G H232301908ORPHA:2388ChoreoacanthocytosisHP:0040283 - Occasional130
HP:0012179HP:0000473Torticollis1VPS16 CL E G H6460114584OMIM:619291DYSTONIA 30; DYT30
HP:0012179HP:0012048Oromandibular dystonia1VPS16 CL E G H6460114584OMIM:619291DYSTONIA 30; DYT30
HP:0012179HP:0000473Torticollis1ZNF142 CL E G H770112927OMIM:618425Neurodevelopmental disorder with impaired speech and hyperkinetic movements.
HP:0012179HP:0002544Retrocollis2ALS2 CL E G H57679443OMIM:205100Amyotrophic lateral sclerosis 2, juvenile114
HP:0012179HP:0002544Retrocollis2ALS2 CL E G H57679443ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional114
HP:0012179HP:0002544Retrocollis2FUS CL E G H25214010ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional105
HP:0012179HP:0002544Retrocollis2KMT2B CL E G H975715840OMIM:617284Dystonia 28, childhood-onset.11
HP:0012179HP:0002544Retrocollis2MAPT CL E G H41376893OMIM:601104Supranuclear palsy, progressive, 1.140
HP:0012179HP:0002544Retrocollis2PRKRA CL E G H85759438OMIM:612067Dystonia 16.37
HP:0012179HP:0002544Retrocollis2SIGMAR1 CL E G H102808157ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional6
HP:0012179HP:0002544Retrocollis2SPG11 CL E G H8020811226ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional287
HP:0012179HP:0002544Retrocollis2SPTLC1 CL E G H1055811277ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional54


Genes (104) :AARS1 ACTA1 ALG9 ALS2 ANO3 AOPEP ATN1 ATP13A2 ATP1A3 B3GALT6 C19ORF12 CACNA1A CDK10 CEP85L CHN1 CIZ1 CNP COASY COL12A1 COL6A1 COL6A2 COL6A3 COLEC11 COX20 CP CPLX1 DDC DRD2 DRD5 FGFR2 FGFR3 FLI1 FTL FUS GCH1 GDAP2 GNAL HK1 HPCA HSPG2 IMPDH2 ITGA7 KCNC3 KCNN2 KCTD17 KIF1C KMT2B MAFB MAPT MECR MYF5 NAA10 NAXE NDUFA6 NEK9 NGLY1 NKX6-2 NR4A2 PANK2 PARK7 PCGF2 PNKD POLR1B POLR1C POLR1D PRDX3 PRKAR1B PRKRA PRRT2 REEP1 RNF170 ROBO3 SALL4 SCP2 SGCE SIGMAR1 SLC19A3 SLC39A14 SLC6A3 SOX10 SPG11 SPTBN1 SPTLC1 STARD7 SUPT16H SYNGAP1 TAF1 TBC1D24 TBP TCOF1 TGFB2 TGM6 THAP1 TIMM8A TOR1A TRPV4 TUBB3 TUBB4A TWIST1 VAC14 VPS11 VPS13A VPS16 ZNF142

Diseases (115) :OMIM:616339 OMIM:619691 ORPHA:97240 ORPHA:79328 OMIM:205100 ORPHA:300605 ORPHA:420485 OMIM:615034 OMIM:619565 ORPHA:101 OMIM:606693 ORPHA:306674 OMIM:128235 ORPHA:71517 ORPHA:536467 OMIM:614298 ORPHA:71518 ORPHA:97 ORPHA:98758 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 OMIM:618547 OMIM:224500 ORPHA:99657 ORPHA:800 OMIM:613204 ORPHA:98768 OMIM:619724 OMIM:616398 ORPHA:397946 ORPHA:589618 OMIM:617284 ORPHA:240071 ORPHA:240094 OMIM:601104 OMIM:617282 ORPHA:508093 OMIM:618155 ORPHA:276432 OMIM:300855 OMIM:617186 OMIM:618253 OMIM:617022 ORPHA:404454 OMIM:617560 ORPHA:216873 OMIM:234200 OMIM:606324 OMIM:618371 ORPHA:98810 OMIM:118800 ORPHA:861 OMIM:619862 OMIM:619680 ORPHA:210571 OMIM:612067 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 ORPHA:98759 OMIM:614816 OMIM:613908 ORPHA:276193 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.