KBG syndrome

Findings

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

Definition

Inheritance

Autosomal dominant 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 dominant syndromic intellectual disability
• congenital nervous system disorder
• multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Resolves to: KBG syndrome

Also called

short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome