/optic atrophy 10 with or without ataxia, intellectual disability, and seizures

optic atrophy 10 with or without ataxia, intellectual disability, and seizures

Rare Disease

MONDO:0020737

Also Known As

OPA10RTN4IP1-optic atrophy 10 with or without ataxia, impaired intellectual development and seizuresRTN4IP1-related optic atrophy with or without neurological featuresoptic atrophy 10 with or without ataxia, mental retardation, 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.