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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

GARD:13488

MIM:617282

ORDO:508093

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

is_a autosomal recessive disease

Subclass Logical Relationships

existence starts during some Childhood onset

has material basis in some autosomal recessive inheritance

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