Phenotypically normal girl with male pseudohermaphroditism, hypoplastic left ventricle, lung aplasia, horseshoe kidney, and diaphragmatic hernia.
Maaswinkel-Mooij
P D
PD
Department of Clinical Genetics, University Hospital, Leiden, The Netherlands.
Stokvis-Brantsma
W H
WH
D000015:Abnormalities, Multiple / Q000235:genetics*; D012734:Disorders of Sex Development / Q000235:genetics*; D006352:Heart Ventricles / Q000002:abnormalities; D006548:Hernia, Diaphragmatic / Q000235:genetics*; D006801:Humans; D007668:Kidney / Q000002:abnormalities; D008168:Lung / Q000002:abnormalities; D008297:Male; D010641:Phenotype; D013577:Syndrome