2q23.1 microdeletion syndrome
2q23.1 microdeletion syndrome
Definition
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.
Also known as Del(2)(q23.1), monosomy 2q23.1, pseudo-Angelman syndrome — per MONDO