Table 3

Clinical presentation and haplotype analysis in patients with a deletion of the entire VHL gene

Family NoAge of memberAge of diagnosis of cHABSpinal HABCerebellar HABRetinal HABOther VHL related lesionsDSS 1038D3S 1317D3S651
s = symptomatic, as = asymptomatic, nt = not tested.
263732 sSingle1/211/2
4038 sSingleSingle111/2
273427 sMultipleSingleBilateralRenal cysts2/31/22
2120 asSingle2/51/21/2
282725 sMultipleMultiple1/51/22
2424 sSingle1/522
4030 sMultipleMultiple1/51/21/2
6262 sSinglentntnt
293629 sMultipleRenal cysts51/21/2
6032 sSingleSinge renal cyst2/51/21
303837 sMultipleUnilateral211/2
Total: 11 patients41123