Синдром Х-зчепленої мікроцефалії-затримки росту-прогнатизму-крипторхізму
ORPHA:435938· ICD-10 Q87.8· X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome
Визначення(English summary)
X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome is a rare syndromic intellectual disability characterized by hypotonia, microcephaly, severe developmental delay, seizures, intellectual disability, growth retardation, cardiac septal defects, cryptorchidism, hypospadias, and dysmorphic features - prominent ears, prognathism, thin upper lip, dental crowding.
- Поширеність
- <1 / 1 000 000
- Успадкування
- X-linked recessive
- Вік початку
- Antenatal, Neonatal