2q37 microdeletion syndrome

Findings

No curated finding names 2q37 microdeletion 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

• congenital limb malformation
• partial deletion of the long arm of chromosome 2
• skeletal dysplasia

Resolves to: 2q37 microdeletion syndrome

Also called

2q37 monosomyAlbright hereditary osteodystrophy type 3Albright hereditary osteodystrophy-like syndromeBDMRbrachydactyly intellectual disability syndromebrachydactyly mental retardation syndromebrachydactyly-intellectual disability syndromeDel(2)(q37)deletion 2q37deletion 2q37-qtermonosomy 2q37-qter