Smith-Lemli-Opitz Syndrome

Smith-Lemli-Opitz Syndrome [DHCR7]: Characteristic facial features, microcephaly, intellectual disability, and behavioral problems (e.g. autism). Abnormalities of the heart, lungs, kidneys, gastrointestinal tract, fingers/toes and genitalia are also common. Variable severity of symptoms.

Ashkenazi Jewish Carrier Frequency: 1 in 41

Sephardic-Mizrahi Jewish Carrier Frequency: 1 in 68