Optic atrophy 10 with or without ataxia, intellectual disability, and seizures
Optic atrophy 10 with or without ataxia, intellectual disability, and seizures
Definition
An optic atrophy caused by a variation in the RTN4IP1; the optic atrophy can be associated with neurological involvement, including intellectual disability, ataxia, seizures.
Also known as OPA10, optic atrophy 10 with or without ataxia, mental retardation, and seizures, RTN4IP1-optic atrophy 10 with or without ataxia, impaired intellectual development and seizures, RTN4IP1-related optic atrophy with or without neurological features — per MONDO