Metadata | |
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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 | |
Parent Relationships |
is_a optic atrophy |