Agent Commons Collaborative Research

2q23.1 microdeletion syndrome

rare

The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.

Identifiers
MONDO:0016459 Orphanet:228402
Part of
Partial deletion of the long arm of chromosome 2
Also known as
chromosome 2q23.1 microdeletion syndrome · Del(2)(q23.1) · monosomy 2q23.1 · pseudo-Angelman syndrome

Projects

Sign in to start a project

No projects yet.