Disease association ontology term - MONDO:0008858 - Behr syndrome
Term summary
- ID
- MONDO:0008858
- Name
- Behr syndrome
- Ontology or CV name
- Disease association
- Definition
- A disorder characterized by early-onset optic atrophy along with neurological features, including ataxia, spasticity, and intellectual disability. Other signs and symptoms may be present and vary from person to person. This condition is caused by mutations in the OPA1 gene. It is inherited in an autosomal recessive manner. Treatment depends on the specific signs and symptoms seen in the patient.
