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Синдром мікроделеції 8p23.1

ORPHA:251071· ICD-10 Q93.5· 8p23.1 microdeletion syndrome

Визначення(English summary)

8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects.

Поширеність
Unknown
Успадкування
Not applicable, Unknown
Вік початку
Infancy, Neonatal