3p25.3 microdeletion syndrome
3p25.3 microdeletion syndrome
Definition
A rare chromosomal anomaly characterized by intellectual disability, epilepsy or EEG abnormalities, poor speech, ataxia, and stereotypic hand movements.
Also known as Del(3)p(25.3), intellectual disability-epilepsy-stereotypic hand movement syndrome, monosomy 3p25.3 — per MONDO