Characterized by eye (coloboma), heart (ASD, VSD, valve anomalies), genital, and ear (hearing deficit) anomalies. Atresia choanae (blockage of the nasal cavities) and growth retardation. Caused by genetic mutation in CHD7 gene
Characterized by eye (coloboma), heart (ASD, VSD, valve anomalies), genital, and ear (hearing deficit) anomalies. Atresia choanae (blockage of the nasal cavities) and growth retardation. Caused by genetic mutation in CHD7 gene