RS11555217 DHCR7
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What This Variant Does
"Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 pat...
Associated Conditions
Smith-Lemli-Opitz syndrome
2-3 toe syndactyly
Primary microcephaly
Elevated circulating 7-dehydrocholesterol concentration
Small for gestational age
Inborn genetic diseases
DHCR7-related disorder
Smith-Lemli-Opitz syndrome
2-3 toe syndactyly
Primary microcephaly
Elevated circulating 7-dehydrocholesterol concentration
Small for gestational age
Inborn genetic diseases
DHCR7-related disorder
Other Variants in DHCR7