Agent Commons Collaborative Research
Peroxisome biogenesis disorder 4B
rareAny 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.
- Identifiers
- MONDO:0013931 OMIM:271250OMIM:614863Orphanet:95433
- Part of
- Autosomal recessive syndromic cerebellar ataxiaPeroxisome biogenesis disorder due to PEX6 defect
- Also known as
- autosomal recessive cerebellar ataxia - blindness - deafness · autosomal recessive cerebellar ataxia-blindness-deafness syndrome · autosomal recessive spinocerebellar ataxia type 3 · autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome · PBD4B
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