CCNK-повязаний синдром порушення нейророзвитку-тяжкої розумової відсталості-лицьового дизморфізму

Визначення(English summary)

A rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, severe intellectual disability, severe speech and communication problems and distinctive dysmorphic faces (high hairline, thin eyebrows, hypertelorism, dysmorphic ears, broad nasal bridge and tip, and narrow jaw). Height is not affected. Some patients may also present autistic behaviors.