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

Orpha code: 435938OMIM code: 300998

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.

Disease data
Classification

Malformation syndrome

ORPHA code
435938
OMIM code
300998
ICD10 code
Q87.8
ICD11 code
-

No additional description.

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