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