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X-linked intellectual disability-plagiocephaly syndrome

ORPHA:2898· ICD-10 Q87.0

Definition

A rare, syndromic intellectual disability characterized by severe intellectual deficit, brachycephaly, plagiocephaly, and prominent forehead in male patients. Females may display moderate intellectual deficit without craniofacial dysmorphism. There have been no further descriptions in the literature since 1992.

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