microcephaly 13, primary, autosomal recessive

Findings

No curated finding names microcephaly 13, primary, autosomal recessive 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

Fetal 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

• autosomal recessive primary microcephaly
• primordial dwarfism and slender bone disorder
• Seckel syndrome

Resolves to: microcephaly 13, primary, autosomal recessive

Also called

autosomal recessive primary microcephaly caused by mutation in CENPECENPE autosomal recessive primary microcephaly