peroxisome biogenesis disorder 4B

Findings

No curated finding names peroxisome biogenesis disorder 4B yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• autosomal recessive syndromic cerebellar ataxia
• peroxisome biogenesis disorder due to PEX6 defect

Resolves to: peroxisome biogenesis disorder 4B

Also called

autosomal recessive cerebellar ataxia-blindness-deafness syndromeautosomal recessive spinocerebellar ataxia type 3autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndromePBD4Bperoxisome biogenesis disorder type 4BSCABDSCAR3spinocerebellar ataxia autosomal recessive 3spinocerebellar ataxia, autosomal recessive 3