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X-linked intellectual disability-psychosis-macroorchidism syndrome

Disease definition

X-linked intellectual disability-psychosis-macroorchidism syndrome is characterised by the association of moderate intellectual deficit with manic-depressive psychosis, pyramidal signs and macroorchidism. It has been described in 10 males. The syndrome is transmitted as an X-linked trait and has been associated with a mutation in the MECP2 gene, localised to segment 28 of the long arm of the X chromosome (Xq28).

ORPHA:3077

  • 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: -

Additional information

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