Distal 7q11.23 microdeletion syndrome
Distal 7q11.23 microdeletion syndrome
Definition
Distal 7q11.23 microdeletion syndrome is a rare chromosomal anomaly characterized by epilepsy, neurodevelopmental disorder variably including developmental delays and intellectual disabilities of variable severity, learning disability and neurobehavioral abnormalities (autism spectrum disorder, hyperactivity, impulsivity, aggression, self-abusive behaviors, depression).
Also known as chromosome 7q11.23 deletion syndrome, distal, 1.2mb, distal del(7)(q11.23), distal monosomy 7q11.23 — per MONDO