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GENATLAS PHENOTYPE |
last update : 05-05-2012 |
Symbol | NPHP5 |
Location | 3q13-q21 |
Name | nephronophtisis 5 |
Other name(s) | Senior-Loken 5 |
Corresponding gene | IQCB1 |
Other symbol(s) | SLSN5 |
Main clinical features | association of retinitis pigmentosa to renal alteration, constant among patients with a IQCB1 gene |
Genetic determination | autosomal recessive |
Function/system disorder | eye |
kidney and urinary tract | |
Type | disease |
Gene product |
Name | IQ motif containing B1 |
Remark(s) |