immunodeficiency-centromeric instability-facial anomalies syndrome 2

Findings

No curated finding names immunodeficiency-centromeric instability-facial anomalies syndrome 2 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

• immunodeficiency-centromeric instability-facial anomalies syndrome

Resolves to: immunodeficiency-centromeric instability-facial anomalies syndrome 2

Also called

immunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in ZBTB24immunodeficiency-centromeric instability-Facial anomalies syndrome type 2ZBTB24 immunodeficiency-centromeric instability-facial anomalies syndrome