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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) |