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DOID:0081419 - childhood-onset dystonia with optic atrophy and basal ganglia abnormalities
Disease Ontology 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.
Synonyms: DYSTONIA 29, CHILDHOOD-ONSET, DYTOABG, MECR-related neurologic disorder, MEPAN syndrome, Mitochondrial Enoyl CoA Reductase Protein-Associated Neurodegeneration
Xenbase Genes
:
mecr
| MIM:617282 - DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES; DYTOABG |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a),
dystonia (is_a)