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Синдром ламкої Х-хромосоми

ORPHA:908· ICD-10 Q99.2· Fragile X syndrome

Визначення(English summary)

A rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features including a high forehead, prominent and large ears, hyperextensible finger joints, flat feet with pronation and, in adolescent and adult males, macroorchidism.

Поширеність
1-5 / 10 000
Успадкування
X-linked dominant
Вік початку
Childhood, Infancy, Neonatal