Orphanet: X linked intellectual disability psychosis macroorchidism syndrome

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X-linked intellectual disability-psychosis-macroorchidism syndrome

Disease definition

An X-linked syndromic intellectual disability characterized by developmental delay, variable degree of intellectual disability, speech delay or absent speech, pyramidal signs, tremor, macroorchidism and variable mood and behavior problems, including psychosis and autistic-like behavior. Males are predominantly affected, some females show lower cognitive abilities.


Classification level: Disorder
  • Synonym(s):
    • Lindsay-Burn syndrome
    • PPM-X
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked dominant 
  • Age of onset: Childhood
  • ICD-10: F71.1
  • OMIM: 300055
  • UMLS: C3713418
  • MeSH: -
  • GARD: 3506
  • MedDRA: -
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