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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.

For detailed information about this disease visit : National Institutes of Health (NIH) >

Carrier Frequency by Ethnicity >