rhizomelic chondrodysplasia punctata type 5

Findings

No curated finding names rhizomelic chondrodysplasia punctata type 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Inheritance

Autosomal recessive inheritance

Onset and course

Congenital onset

HPO, annotations 2026-09-02

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

• peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain

Resolves to: rhizomelic chondrodysplasia punctata type 5

Also called

PEX5 rhizomelic chondrodysplasia punctataRCDP5rhizomelic chondrodysplasia punctata caused by mutation in PEX5rhizomelic chondrodysplasia punctata, type 5