Coffin-Siris syndrome 1

Findings

No curated finding names Coffin-Siris syndrome 1 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 disease
• BAFopathy
• Coffin-Siris syndrome

Resolves to: Coffin-Siris syndrome 1

Also called

ARID1B-related BAFopathyCSS1hypertrichosis, hyperkeratosis, intellectual disability, and distinctive facial featureshypertrichosis, hyperkeratosis, mental retardation, and distinctive facial featuresintellectual disability, autosomal dominant 12mental retardation, autosomal dominant type 12MRD12