intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency

Findings

No curated finding names intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Inheritance

Autosomal dominant inheritance

Onset and course

Infantile 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 dominant disease
• multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Resolves to: intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency

Also called

autosomal dominant intellectual disability 23intellectual developmental disorder, autosomal dominant 23intellectual disability, autosomal dominant type 23mental retardation, autosomal dominant type 23MRD23