Diagnosis of Smith-Lemli-Opitz syndrome.
McGaughran
J
J
Donnai
D
D
Clayton
P
P
Mills
K
K
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D002648:Child; D002784:Cholesterol / Q000097:blood; D003684:Dehydrocholesterols / Q000097:blood; D005315:Fetal Diseases / Q000175:diagnosis*; D006801:Humans; D017880:Limb Deformities, Congenital; D008831:Microcephaly / Q000175:diagnosis*; D011296:Prenatal Diagnosis; D013577:Syndrome
D003684:Dehydrocholesterols; D002784:Cholesterol; C016705:7-dehydrocholesterol