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