Xp21 deletion syndrome

Orpha code: 261476OMIM code: 300679

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.

Disease data
Classification

Disease

Synonyms
Complex GKD
Del(X)(p21)
Niedobór kinazy glicerolu - zespół przyległego genu
Zespół mikrodelecji Xp21
Complex glycerol kinase deficiency
Del(X)(p21)
Xp21 contiguous gene deletion syndrome
Xp21 microdeletion syndrome
ORPHA code
261476
OMIM code
300679
ICD10 code
Q99.8
ICD11 code
-

No additional description.

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