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Metadata
ID DOID:0080840
Name optic atrophy 12
Definition An optic atrophy that is characterized by slowly progressive visual impairment with onset usually in the first decade and that has_material_basis_in heterozygous mutation in the AFG3L2 gene on chromosome 18p11.
https://pubmed.ncbi.nlm.nih.gov/32219868/
Xrefs

MIM:618977

Parent Relationships

is_a optic atrophy

is_a autosomal dominant disease

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