distal 7q11.23 microdeletion syndrome

Rare Disease

MONDO:0013393

Also Known As

chromosome 7q11.23 deletion syndrome, distal, 1.2mbdistal del(7)(q11.23)distal monosomy 7q11.23chromosome 7q11.23 deletion syndrome, distal, 1.2-MBdistal chromosome 7Q11.23 deletion 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).