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GENATLAS PHENOTYPE

last update : 11-07-2014

Symbol	NPHP15
Location	11q23.3
Name	nephronophthisis 15
Corresponding gene	CEP164
Main clinical features	retinal degeneration, flat electroretinogram, cerebellar vermis hypoplasia, progressive insidious polyuria due to reduced urinary concentrating ability preceding the decline of renal function and associated with an irregularly thickened tubular basement membrane (TBM), focal interstitial fibrosis
Genetic determination	autosomal recessive
Function/system disorder	eye
	kidney and urinary tract
	neurology
Type	disease

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