Синдром Шурса-Хоймейкерса
ORPHA:329224· ICD-10 Q87.0· Schuurs-Hoeijmakers syndrome
Визначення(English summary)
A rare genetic syndromic intellectual disability characterized by mild to moderate intellectual disability, developmental delay (with speech and language development more severely affected). Association with infantile hypotonia, seizures, cryptorchidism in males and congenital abnormalities, including cardiac, cerebral or ocular defects, may be observed.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal dominant
- Вік початку
- Antenatal, Infancy, Neonatal