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Metadata
ID DOID:0111434
Name optic atrophy 10
Definition An optic atrophy characterized by early-onset optic neuropathy and mitochondrial defects that has_material_basis_in homozygous or compound heterozygous mutation in RTN4IP1 on chromosome 6q21.
https://www.ncbi.nlm.nih.gov/pubmed/26593267
Xrefs

OMIM:616732

Synonyms

OPA10 [EXACT]

optic atrophy 10 with or without ataxia, mental retardation, and seizures [EXACT]

Parent Relationships

is_a optic atrophy

is_a autosomal dominant disease

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