Search Ontology:
Human Disease
early-onset dystonia and/or spastic paraplegia
- Term ID
- DOID:0070445
- Synonyms
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- Definition
- A dystonia characterized by variable onset of dystonia, spasticity, or both that has_material_basis_in heterozygous mutation in the ATP5MC3 gene on chromosome 2q31.1. https://pubmed.ncbi.nlm.nih.gov/34636445/
- References
- Ontology
- Human Disease ( DOID:0070445 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models