Term Name: optic atrophy 12
Synonyms:
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.
Ontology: Human Disease [DOID:0080840]   ( DOID:0080840 )

Relationships
is a type of: autosomal dominant disease optic atrophy