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X-linked intellectual disability-macrocephaly-macroorchidism syndrome

Disease definition

An X-linked syndromic intellectual disability characterized by intellectual disability, macrocephaly, macroorchidism, prominent eyebrows and jaws and abnormal ears. Males are predominantly affected, some females show lower cognitive abilities.

ORPHA:85320

Classification level: Disorder
  • Synonym(s):
    • Johnson syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.8
  • ICD-11: LD90
  • OMIM: -
  • UMLS: C4304406
  • MeSH: -
  • GARD: -
  • MedDRA: -

  A summary on this disease is available in Deutsch (2019) Español (2019) Français (2019) Italiano (2019) Nederlands (2019)

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