- LH receptor mutations - Smith-Lemli-Opitz syndrome - Steroidogenic acute regulatory protein mutations*
- Cholesterol side-chain cleavage (CYP1IA1)*- 3β-hydroxysteroid dehydrogenase 2 (HSD3B2)*- 17α-hydroxylase/17,20-lyase (CYP17)*- P450 oxidoreductase (POR) - 17β-hydroxysteroid dehydrogenase (HSD17B3) - 5α-reductase2 (SRD5A2). The gene discussed is SRD5A2; the disease is Opitz G/BBB syndrome.