Term Name: | early-onset dystonia and/or spastic paraplegia |
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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 ) |