Term Name: optic atrophy 10
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 )

Relationships
is a type of: autosomal dominant disease optic atrophy