Xp21 deletion syndrome
Engelsk navn: Xp21 deletion syndrome
Engelske synonym: Complex GKD,Complex glycerol kinase deficiency,Del(X)(p21),Xp21 contiguous gene deletion syndrome,Xp21 microdeletion syndrome
Definisjon
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.
Fra Orphanet
ORPHA: 261476
Klassifiseringsnivå: Disorder
ICD-10: Q99.8
Mer informasjon
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