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.

Also known as: non-classic peroxisome biogenesis disorder, PBD4B, SCABD, SCAR3, autosomal recessive cerebellar ataxia-blindness-deafness syndrome, autosomal recessive spinocerebellar ataxia type 3, autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome, peroxisome biogenesis disorder 4B

25 clinical trials for this condition and its sub-types.