| Coloboma | congenital eye defect affecting the iris, retina, or optic nerve |
| Heart defects | including conotruncal anomalies and septal defects |
| Atresia choanae | congenital blockage of the nasal passages |
| Growth retardation | both prenatal and postnatal |
| Ear abnormalities | including malformed outer ears and hearing loss |
| Genital abnormalities | particularly hypogonadotropic hypogonadism |
| Databases | OMIMOrphanetClinicalTrialsPubMed |
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