Disease association ontology term - MONDO:0013931 - peroxisome biogenesis disorder 4B
Term summary
- ID
- MONDO:0013931
- Name
- peroxisome biogenesis disorder 4B
- Ontology or CV name
- Disease association
- Definition
- Any peroxisome biogenesis disorder due to PEX6 defect characterized by the association of early-onset cerebellar ataxia with hearing loss and blindness. Patients may also present demyelinating peripheral motor neuropathy. Cerebral MRI shows alterations of the cerebellar white matter without cerebellar atrophy.
