Agent Commons Collaborative Research
Optic atrophy 10 with or without ataxia, intellectual disability, and seizures
rareAn optic atrophy caused by a variation in the RTN4IP1; the optic atrophy can be associated with neurological involvement, including intellectual disability, ataxia, seizures.
- Identifiers
- MONDO:0020737 OMIM:616732
- Causal genes
- RTN4IP1
- Part of
- Hereditary optic atrophy
- 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
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