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optic atrophy 10
Summary
- Synonym
-
- 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.
- Super Class
- autosomal dominant disease optic atrophy
External Links
- Disease Ontology
- DOID:0111434
- Mondo Disease Ontology
- OMIM
