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Up to: Autosomal recessive syndromic cerebellar ataxia · Peroxisome biogenesis disorder due to PEX6 defect
Peroxisome biogenesis disorder 4B
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.
This condition has no sub-types.