| Metadata | |
|---|---|
| ID | DOID:0081419 |
| Name | childhood-onset dystonia with optic atrophy and basal ganglia abnormalities |
| Definition | A dystonia that is characterized by characterized by onset of involuntary movements in the first decade of life and that has_material_basis_in homozygous or compound heterozygous mutation in the MECR gene on chromosome 1p35. Optic atrophy develops around the same time or slightly later. https://pubmed.ncbi.nlm.nih.gov/27817865/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
DYSTONIA 29, CHILDHOOD-ONSET [EXACT] DYTOABG [EXACT] MECR-related neurologic disorder [EXACT] MEPAN syndrome [EXACT] Mitochondrial Enoyl CoA Reductase Protein-Associated Neurodegeneration [EXACT] |
| Parent Relationships |
is_a dystonia |
| Subclass Logical Relationships |
existence starts during some Childhood onset has material basis in some autosomal recessive inheritance |