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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