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X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome

ORPHA:435938· ICD-10 Q87.8

Definition

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.

Prevalence
<1 / 1 000 000
Inheritance
X-linked recessive
Age of onset
Antenatal, Neonatal