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Rare disease search prototype built on Orphanet data

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ORPHA:261476

Xp21 deletion syndrome

Also called Complex GKD, Complex glycerol kinase deficiency, Del(X)(p21), Xp21 contiguous gene deletion syndrome, Xp21 microdeletion syndrome

Body system
Inborn errors of metabolism
Inheritance pattern
Not documented in Orphadata
Typical age of onset
Infancy, Neonatal
Estimated prevalence
<1 / 1 000 000 (Worldwide)
Rarity class
<1 / 1 000 000

ORPHA:261476 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.

Common signs

  • Myopathy
  • Elevated circulating creatine kinase concentration
  • Reduced bone mineral density
  • Ketoacidosis
  • Nausea and vomiting
  • Hypertriglyceridemia