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  • A congenital condition associated with mutation(s) in the PITX2 and/or FOXC1 genes, encoding pituitary homeobox 2 and forkhead box protein C1, respectively. The condition is characterized by anterior segment dysgenesis of the eye(s), iris and corneal anomalies, glaucoma, craniofacial anomalies, hypodontia, and pituitary hypoplasia with hypopituitarism, and hypospadius.
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