3M syndrome 3

Findings

No curated finding names 3M syndrome 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Inheritance

Autosomal recessive 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

• 3-M syndrome
• primordial dwarfism and slender bone disorder

Resolves to: 3M syndrome 3

Also called

3-M syndrome 33-M syndrome caused by mutation in CCDC8CCDC8 3-M syndromethree M syndrome 3three M syndrome type 3