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GENATLAS PHENOTYPE

last update : 14-03-2017

Symbol	NPHP20
Location	15q15.1
Name	nephronophthisis 20
Corresponding gene	MAPKBP1
Main clinical features	tubulointerstitial nephritis characterized by progressive renal fibrosis resulting in end-stage renal failure age at onset is relatively late compared to other forms of NPHP, and patients develop end-stage renal disease in the second or third decades
Genetic determination	autosomal recessive
Function/system disorder	kidney and urinary tract
Type	disease

Remark(s)