Search Ontology:
Human Disease

childhood-onset dystonia with optic atrophy and basal ganglia abnormalities

Term ID
DOID:0081419
Synonyms
  • DYSTONIA 29, CHILDHOOD-ONSET
  • DYTOABG
  • MECR-related neurologic disorder
  • MEPAN syndrome
  • Mitochondrial Enoyl CoA Reductase Protein-Associated Neurodegeneration
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/
References
Ontology
Human Disease   ( DOID:0081419 )
Relationships
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Genes Involved
Zebrafish Models