Smith-Lemli-Opitz syndrome type I

Introduction

associated with mutations in the sterol delta-7-reductase gene

More general terms

• Smith-Lemli-Opitz syndrome (SLOS, SLO syndrome, RSH syndrome)

Database

• OMIM: https://mirror.omim.org/entry/270400
• OMIM: https://mirror.omim.org/entry/602858