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Синдром дистальної мікроделеції 7q11.23

ORPHA:254351· ICD-10 Q93.5· Distal 7q11.23 microdeletion syndrome

Визначення(English summary)

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).

Поширеність
<1 / 1 000 000
Успадкування
Autosomal dominant, Not applicable
Вік початку
Infancy, Neonatal