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Xp21 deletion syndrome

Disease definition

Xp21 microdeletion syndrome is a rare chromosomal anomaly characterized by complex glycerol kinase deficiency, congenital adrenal hypoplasia, intellectual disability and/or Duchenne muscular dystrophy that usually affect males. The clinical features depend on the deletion size and the number and type of involved genes.

ORPHA:261476

Classification level: Disorder
  • Synonym(s):
    • Complex GKD
    • Complex glycerol kinase deficiency
    • Del(X)(p21)
    • Xp21 contiguous gene deletion syndrome
    • Xp21 microdeletion syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q99.8
  • OMIM: 300679
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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