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Синдром Клефстри

ORPHA:261494· ICD-10 Q87.8· Kleefstra syndrome

Визначення(English summary)

A rare genetic, intellectual disability syndrome characterized by intellectual disability, childhood hypotonia, severe expressive speech delay, autism spectrum disorder, and a distinctive facial appearance with a spectrum of additional clinical features.

Поширеність
<1 / 1 000 000
Успадкування
Autosomal dominant
Вік початку
Neonatal