Peroxisome biogenesis disorder 4B

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.

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

Also identified as

• DOID 0081433 per MONDO
• DOID 0111612 per MONDO
• MESH C537309 per MONDO
• NCIT C155755 per MONDO
• OMIM 271250 per MONDO
• OMIM 614863 per MONDO
• Orphanet 95433 per MONDO
• UMLS C3553937 per MONDO

Affected Organs