microcephaly and chorioretinopathy 2

Findings

No curated finding names microcephaly and chorioretinopathy 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Inheritance

Autosomal recessive inheritance

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

• autosomal recessive disease
• microcephaly and chorioretinopathy

Resolves to: microcephaly and chorioretinopathy 2

Also called

microcephaly and chorioretinopathy caused by mutation in PLK4microcephaly and chorioretinopathy type 2microcephaly and chorioretinopathy, autosomal recessive, type 2PLK4 microcephaly and chorioretinopathy