Phenotypic characteristics and status of PITX2 mutation of the affected pedigree members.

M, male; F, female; ECD, endocardial cushion defect; MVC, mitral valve cleft; RAA, right aortic arch; TGA, transposition of the great arteries; OD, oligodontia; MH, maxillary hypoplasia; IH, iris hypoplasia; UH, umbilical hernia; NA, not available; +/–, heterozygote. aAge at death. Phenotypic characteristics and status of PITX2 mutation of the affected pedigree members.