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X-linked intellectual disability-plagiocephaly syndrome

Disease 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.

ORPHA:2898

Classification level: Disorder
  • Synonym(s):
    • Hyde Forster-McCarthy-Berry syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.0
  • OMIM: 300064
  • UMLS: C2931516
  • MeSH: -
  • GARD: 2765
  • MedDRA: -
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