autosomal dominant severe congenital neutropenia

Findings

No curated finding names autosomal dominant severe congenital neutropenia 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
• severe congenital neutropenia

Narrower terms (3)

• neutropenia, lethal congenital, with eosinophilia
• neutropenia, severe congenital, 1, autosomal dominant
• neutropenia, severe congenital, 2, autosomal dominant

Resolves to: autosomal dominant severe congenital neutropenia

Also called

severe congenital neutropenia, autosomal dominant