Table 2

Genetic variants identified in the cohort

Gene, n (%)Number of variants in cohort (n=42)
AR8(20)
NR5A17(18)
SRD5A27 (17)
HSD17B35(12)
HSD3B24(10)
CHD72 (5)
DHCR71 (2)
DMD1 (2)
FGF81 (2)
HSD17B1 (2)
MAMLD11 (2)
PROK21 (2)
RLIMB11 (2)
RPGR1 (2)
WDR111 (2)