Diagnosis of Smith-Lemli-Opitz syndrome.
Seedorf
U
U
Walter
M
M
Assmann
G
G
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D002784:Cholesterol / Q000097:blood; D003684:Dehydrocholesterols / Q000097:blood; D005835:Genitalia / Q000002:abnormalities; D006801:Humans; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital; D008831:Microcephaly / Q000175:diagnosis*; D013053:Spectrophotometry / Q000379:methods; D013577:Syndrome
D003684:Dehydrocholesterols; D002784:Cholesterol; C016705:7-dehydrocholesterol