Disease association ontology term - MONDO:0971174 - multiple mitochondrial dysfunctions syndrome 9b
Term summary
- ID
- MONDO:0971174
- Name
- multiple mitochondrial dysfunctions syndrome 9b
- Ontology or CV name
- Disease association
- Definition
- A mitochondrial dysfunction syndrome in which the cause of the disease is a mutation in the FDXR gene. It is characterized by optic atrophy and/or auditory neuropathy variably associated with developmental delay or regression, global hypotonia, pyramidal and cerebellar signs, and seizures.
