distal 7q11.23 microdeletion syndrome
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).
MONDO:0016906
partial deletion of the long arm of chromosome 7
is_a
chromosome 7q11.23 deletion syndrome, distal, 1.2mb
exact
distal del(7)(q11.23)
exact
distal monosomy 7q11.23
exact