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GENATLAS PHENOTYPE

last update : 12/02/08

Symbol	DELXP21
Location	Xp21.1
Name	chromosome Xp21 microdeletion syndrome
Other name(s)	complex glycerol kinase deficiency
Corresponding gene	GK , NR0B1 , DMD
Other symbol(s)	cGKD
Main clinical features	contiguous gene deletion syndrome with glycerol kinase deficiency congenital, adrenal hypoplasia and/or Duchenne muscular dystrophy
Genetic determination	sex linked
	chromosomal
Related entries	GKD
Function/system disorder
Type	disease

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
	deletion		variable extent

Remark(s)