autosomal dominant primary microcephaly

Findings

No curated finding names autosomal dominant primary microcephaly 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 dominant disease
• congenital nervous system disorder
• isolated congenital microcephaly
• Mendelian neurodevelopmental disorder
• multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome

Narrower terms (3)

• microcephaly 18, primary, autosomal dominant
• microcephaly 26, primary, autosomal dominant
• microcephaly 27, primary, autosomal dominant

Resolves to: autosomal dominant primary microcephaly

Also called

microcephaly (disease), autosomal dominant