/peroxisome biogenesis disorder 4B

peroxisome biogenesis disorder 4B

Rare Disease

MONDO:0013931

Also Known As

non-classic peroxisome biogenesis disorderPBD4BSCABDSCAR3autosomal recessive cerebellar ataxia-blindness-deafness syndromeautosomal recessive spinocerebellar ataxia type 3autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndromeperoxisome biogenesis disorder 4Bperoxisome biogenesis disorder type 4Bspinocerebellar ataxia autosomal recessive 3spinocerebellar ataxia, autosomal recessive 3autosomal recessive cerebellar ataxia - blindness - deafnessautosomal recessive spinocerebellar ataxia-blindness-deafness syndromespinocerebellar ataxia with blindness and deafness

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.