early-onset dystonia and/or spastic paraplegia

Term ID

DOID:0070445

Synonyms

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

• OMIM:619681

Ontology

Human Disease   ( DOID:0070445 )