| A rare multiple congenital anomalies/dysmorphic syndrome characterized by neurodevelopmental delay, intellectual disability, variable structural eye defects including anophthalmia, microphthalmia, coloboma, optic nerve and iris abnormalities. Hypotonia and heart defects are present in the majority of patients. Additional variable clinical features may include growth failure, skeletal abnormalities, kidney anomalies, sleeping problems and behavioral disturbances such as autism and anxiety. |
