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GENATLAS PHENOTYPE

last update : 14-10-2013

Symbol	NPHP16
Location	9q22.33
Name	nephronophthisis 16
Corresponding gene	ANKS6
Main clinical features	infantile onset of progressive polycystic kidney disease leading to renal failure mostly nonenlarged cystic kidneys and no extrarenal manifestations, but also enlarged renal size and severe extrarenal defects, including hypertrophic obstructive cardiomyopathy, aortic stenosis
Genetic determination	autosomal recessive
Function/system disorder	kidney and urinary tract
Type	disease

Remark(s)