Congenital heart malformation (esp. tetralogy of Fallot), clubfoot, cleft palate, digit malformations, and low-set pinnae; patient is phenotypic female with XY genotype. Condition is autosomal recessive. Death usu. occurs shortly after birth.
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Congenital heart malformation (esp. tetralogy of Fallot), clubfoot, cleft palate, digit malformations, and low-set pinnae; patient is phenotypic female with XY genotype. Condition is autosomal recessive. Death usu. occurs shortly after birth.