chromosome 2q31.1 duplication syndrome

Findings

No curated finding names chromosome 2q31.1 duplication syndrome 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

Congenital onset · Childhood 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.

Where it sits

A kind of

• mesomelic dysplasia, Kantaputra type
• partial duplication of the long arm of chromosome 2

Resolves to: chromosome 2q31.1 duplication syndrome

Also called

2q31.1 microduplication syndromedup(2)(q31.1)trisomy 2q31.1