Table 3 of Chien, Mol Vis 2009; 15:2139-2145. Table 3 of Chien, Mol Vis 2009; 15:2139-2145.
Table 3. Phenotypes of patients who have eye anomalies but no PAX6 mutation.
Associated organ |
Phenotypes |
Number of cases* |
|---|---|---|
| Eye | Microphthalmos | 5 |
| Microcornea | 2 | |
| Eyelid coloboma | 2 | |
| non-specified eye anomaly | 2 | |
| Aniridia | 1 | |
| Cornea whitish plague, Congenital cataract, Choridal coloboma, Anophthalmos, Strabismus | One each | |
| Central nervous system | Developmental delay | 2 |
| Ventriculomegaly | 2 | |
| Periventricular cyst, Hemiparesis, Seizure, Corpus callosum hypoplasia | One each | |
| Genitourinary | Small kidney | 2 |
| Vesiculoureteral reflux, Cryptorchidism | One each | |
| Cardiac | Coarctation of aorta, Patent ductus arteriosus | One each |
| Skeletal | Congenital hip dislocation | 1 |
| Others | Dysmorphism | 3 |
| Choanal atresia, Transient congenital hypothyroidism | One each |