Xp21 deletion syndrome
ORPHA:261476· ICD-10 Q99.8
Definition
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.
- Prevalence
- <1 / 1 000 000
- Age of onset
- Infancy, Neonatal