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References OMIM Gene GeneReviews HGMD HGNC
last update : 25/08/2006
Symbol NPHL1
Location Xp11.23
Name nephrolithiasis, recessive, with renal failure
Corresponding gene CLCN5
Other symbol(s) XRN
Main clinical features same gene as Dent syndrome and X-linked hypophosphatemic rickets
Genetic determination sex linked
Function/system disorder metabolism/membrane transport
Type disease
Gene product
Name chloride voltage-gated channel 5 (CLCN5)