Hirschsprung disease in a 46,XY phenotypic infant girl with Smith-Lemli-Opitz syndrome.
D002972:Cleft Palate / Q000150:complications*; D012734:Disorders of Sex Development / Q000150:complications*; D005260:Female; D006627:Hirschsprung Disease / Q000150:complications*; D006801:Humans; D007231:Infant, Newborn; D008831:Microcephaly / Q000150:complications*; D010641:Phenotype; D013577:Syndrome