Smith Lemli Opitz
Smith Lemli Opitz Syndrome (SLOS) is an autosomal recessive disorder, caused by a mutation in the DHCR7 (7-dehydrocholesterol reductase) gene on chromosome 11. Individuals with SLOS often have poor growth, developmental delays, and intellectual disability, as well as a range of physical malformations, including microcephaly, cleft palate, ptosis, and others.