5q14.3 microdeletion syndrome

Findings

No curated finding names 5q14.3 microdeletion syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

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

• multiple congenital anomalies/dysmorphic syndrome-intellectual disability
• partial deletion of the long arm of chromosome 5

Resolves to: 5q14.3 microdeletion syndrome

Also called

Del(5)(q14.3)monosomy 5q14.3