Condition: Renal dysplasia and retinal aplasia (disorder)
rs866982675
in
IQCB1
gene and
Renal dysplasia and retinal aplasia (disorder)
PMID 21866095
2011 Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies.
PMID 21220633
2011 Four of these have been previously reported in patients with
Senior-Loken syndrome
(F141del, R461X, H506del, and R489X) and 3 are novel (A111del, E346X, and
R455X
).