Term Name: | optic atrophy 10 |
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Synonyms: | OPA10, optic atrophy 10 with or without ataxia, mental retardation, and seizures |
Definition: | An optic atrophy characterized by early-onset optic neuropathy and mitochondrial defects that has_material_basis_in homozygous or compound heterozygous mutation in the RTN4IP1 gene on chromosome 6q21. |
Ontology: | Human Disease [DOID:0111434] ( DOID:0111434 ) |