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Mutations in this gene have been associated with oculodentodigital dysplasia, heart malformations, and Hallermann-Streiff syndrome.
It has also been called oculo-dento-digital syndrome, oculodentodigital dysplasia (ODDD), and oculodentoosseous dysplasia (ODOD).
Oculodentodigital syndrome (ODD syndrome) is an extremely rare genetic condition that typically results in small eyes, underdeveloped teeth, and syndactyly and malformation of the fourth and fifth fingers.