Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation

Syndromic anophthalmia is studied by performing positional cloning in two unrelated consanguineous families with clinical anophthalmia and variable malformations of the lung, the heart and the diaphragm, as well as mental retardation. STRA6 mutations have defined a pleiotropic malformation syndrome representing the first human phenotype associated with mutations in a gene from the 'STRA' group.