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Proximal Xq28 duplication syndrome

Disease definition

A rare X-linked genomic disorder associated with interstitial chromosomal duplications at Xq28 encompassing the MECP2 gene. It is characterized in males by infantile onset hypotonia, severe global developmental delay, intellectual disability, progressive spasticity, seizures, gastrointestinal symptoms and recurrent respiratory infections. In females, the phenotype is more variable.

ORPHA:1762

Classification level: Disorder
  • Synonym(s):
    • MECP2 duplication syndrome
    • Syndrome de déficience intellectuelle liée à l'X type Lubs
    • X-linked intellectual disability syndrome, Lubs type
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q99.8
  • OMIM: 300260  300815
  • UMLS: C1846058  C3714043
  • MeSH: C537723
  • GARD: 9781
  • MedDRA: -

Detailed information

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