Smith-Lemli-Opitz syndrome.
D000015:Abnormalities, Multiple; D005145:Face / Q000002:abnormalities; D005260:Female; D006128:Growth; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability; D017880:Limb Deformities, Congenital; D008297:Male; D014564:Urogenital Abnormalities