Trait
Limb dystonia
A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs.
Summary
- Body system
- Abnormality of the nervous system
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test73 genes linked to Limb dystonia
Changes in these genes cause rare conditions in which Limb dystonia is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| AARS1alanyl-tRNA synthetase 1 | Always | In 1 condition |
| ATP5F1BATP synthase F1 subunit beta | Always | In 1 condition |
| ATP7BATPase copper transporting beta | Always | In 1 condition |
| DDCdopa decarboxylase | Always | In 1 condition |
| NAV3neuron navigator 3 | Always | In 1 condition |
| PRKRAprotein activator of interferon induced protein kinase EIF2AK2 | Always | In 2 conditions |
| TMEM63Btransmembrane protein 63B | Always | In 1 condition |
| VPS11VPS11 core subunit of CORVET and HOPS complexes | Always | In 1 condition |
| ARXaristaless related homeobox | Very often (80–99%) | In 2 conditions |
| CHD8chromodomain helicase DNA binding protein 8 | Very often (80–99%) | In 1 condition |
| SLC18A2solute carrier family 18 member A2 | Very often (80–99%) | In 1 condition |
| THAP1THAP domain containing 1 | Very often (80–99%) | In 2 conditions |
| YIF1BYip1 interacting factor homolog B, membrane trafficking protein | Very often (80–99%) | In 1 condition |
| ANO3anoctamin 3 | Often (30–79%) | In 1 condition |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Often (30–79%) | In 1 condition |
| CDONcell adhesion associated, oncogene regulated | Often (30–79%) | In 4 conditions |
| CKAP2Lcytoskeleton associated protein 2L | Often (30–79%) | In 1 condition |
| COL6A3collagen type VI alpha 3 chain | Often (30–79%) | In 2 conditions |
| COX20cytochrome c oxidase assembly factor COX20 | Often (30–79%) | In 1 condition |
| CRIPTOcripto, EGF-CFC family member | Often (30–79%) | In 4 conditions |
| DISP1dispatched RND transporter family member 1 | Often (30–79%) | In 4 conditions |
| DLL1delta like canonical Notch ligand 1 | Often (30–79%) | In 4 conditions |
| DTYMKdeoxythymidylate kinase | Often (30–79%) | In 1 condition |
| EIF2AK2eukaryotic translation initiation factor 2 alpha kinase 2 | Often (30–79%) | In 1 condition |
| FGF8fibroblast growth factor 8 | Often (30–79%) | In 4 conditions |
| FGFR1fibroblast growth factor receptor 1 | Often (30–79%) | In 2 conditions |
| FITM2fat storage inducing transmembrane protein 2 | Often (30–79%) | In 1 condition |
| FOXH1forkhead box H1 | Often (30–79%) | In 4 conditions |
| GAS1growth arrest specific 1 | Often (30–79%) | In 4 conditions |
| GCH1GTP cyclohydrolase 1 | Often (30–79%) | In 1 condition |
| GLI2GLI family zinc finger 2 | Often (30–79%) | In 4 conditions |
| GNALG protein subunit alpha L | Often (30–79%) | In 2 conditions |
| HPCAhippocalcin | Often (30–79%) | In 1 condition |
| IMPDH2inosine monophosphate dehydrogenase 2 | Often (30–79%) | In 1 condition |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Often (30–79%) | In 1 condition |
| NKX6-2NK6 homeobox 2 | Often (30–79%) | In 1 condition |
| NODALnodal growth differentiation factor | Often (30–79%) | In 4 conditions |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Often (30–79%) | In 1 condition |
| PANK2pantothenate kinase 2 | Often (30–79%) | In 1 condition |
| PLCH1phospholipase C eta 1 | Often (30–79%) | In 1 condition |
Show 33 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Often (30–79%) | In 1 condition |
| PTCH1patched 1 | Often (30–79%) | In 4 conditions |
| SCO2synthesis of cytochrome C oxidase 2 | Often (30–79%) | In 1 condition |
| SHHsonic hedgehog signaling molecule | Often (30–79%) | In 4 conditions |
| SIX3SIX homeobox 3 | Often (30–79%) | In 4 conditions |
| SLC35B2solute carrier family 35 member B2 | Often (30–79%) | In 1 condition |
| SLC39A14solute carrier family 39 member 14 | Often (30–79%) | In 1 condition |
| SMC1Astructural maintenance of chromosomes 1A | Often (30–79%) | In 1 condition |
| STAG2STAG2 cohesin complex component | Often (30–79%) | In 2 conditions |
| STILSTIL centriolar assembly protein | Often (30–79%) | In 4 conditions |
| TGIF1TGFB induced factor homeobox 1 | Often (30–79%) | In 4 conditions |
| THtyrosine hydroxylase | Often (30–79%) | In 2 conditions |
| TSPOAP1TSPO associated protein 1 | Often (30–79%) | In 1 condition |
| UBE3Cubiquitin protein ligase E3C | Often (30–79%) | In 1 condition |
| VPS13Avacuolar protein sorting 13 homolog A | Often (30–79%) | In 1 condition |
| VPS13Cvacuolar protein sorting 13 homolog C | Often (30–79%) | In 1 condition |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Often (30–79%) | In 1 condition |
| ZIC2Zic family zinc finger 2 | Often (30–79%) | In 4 conditions |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Sometimes (5–29%) | In 1 condition |
| CYB5Acytochrome b5 type A | Sometimes (5–29%) | In 1 condition |
| CYB5R3cytochrome b5 reductase 3 | Sometimes (5–29%) | In 1 condition |
| GCDHglutaryl-CoA dehydrogenase | Sometimes (5–29%) | In 1 condition |
| GNB1G protein subunit beta 1 | Sometimes (5–29%) | In 1 condition |
| JAM2junctional adhesion molecule 2 | Sometimes (5–29%) | In 1 condition |
| SRPK3SRSF protein kinase 3 | Sometimes (5–29%) | In 1 condition |
| TAF1TATA-box binding protein associated factor 1 | Sometimes (5–29%) | In 1 condition |
| TUBB4Atubulin beta 4A class IVa | Sometimes (5–29%) | In 1 condition |
| VPS37AVPS37A subunit of ESCRT-I | Sometimes (5–29%) | In 1 condition |
| AFG2AAAA ATPase AFG2A | Rarely (1–4%) | In 1 condition |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Rarely (1–4%) | In 1 condition |
| COL4A1collagen type IV alpha 1 chain | Not recorded | In 1 condition |
| MAPTmicrotubule associated protein tau | Not recorded | In 1 condition |
| SLC6A3solute carrier family 6 member 3 | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
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Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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