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childhood-onset dystonia with optic atrophy and basal ganglia abnormalities (DOID:0081419)
Alliance: disease page
Synonyms: DYSTONIA 29, CHILDHOOD-ONSET; DYTOABG; MECR-related neurologic disorder; MEPAN syndrome; Mitochondrial Enoyl CoA Reductase Protein-Associated Neurodegeneration
Alt IDs: OMIM:617282, ORDO:508093
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/19/2024
MGI 6.24 		The Jackson Laboratory