Smith-Lemli-Opitz syndrome associated with Hirschsprung disease, 46,XY female karyotype, and total anomalous pulmonary venous drainage.
D000015:Abnormalities, Multiple; D005260:Female; D006059:Gonadal Dysgenesis; D006061:Gonadal Dysgenesis, 46,XY; D006627:Hirschsprung Disease; D006801:Humans; D007231:Infant, Newborn; D011667:Pulmonary Veins / Q000002:abnormalities*; D013577:Syndrome