Term Name: early-onset dystonia and/or spastic paraplegia
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.
Ontology: Human Disease [DOID:0070445]   ( DOID:0070445 )

Relationships
is a type of: autosomal dominant disease dystonia