Smith-Lemli-Opitz-Syndrom
SMITH-LEMLI-OPITZ SYNDROME; SLOS
OMIM: 270400
Synonyme
- SLOS
- SLO SYNDROME
- RSH SYNDROME
- RUTLEDGE LETHAL MULTIPLE CONGENITAL ANOMALY SYNDROME
- POLYDACTYLY, SEX REVERSAL, RENAL HYPOPLASIA, AND UNILOBULAR LUNG
- LETHAL ACRODYSGENITAL SYNDROME
Genorte
- DHCR7(OMIM 602858)