Table 1.
Summary of clinical findings in individuals bearing AGO2 mutations.
| Amount | Percentage | |
|---|---|---|
| Neurological signs | ||
| Intellectual disability | 21/21 | 100 % |
| Motor developmental delay | 21/21 | 100% |
| Impaired speech development | 21/21 | 100% |
| Impaired receptive language | 13/13 | 100% |
| Muscular hypotonia | 12/21 | 57% |
| Autistic features | 9/16 | 56% |
| Cerebral MRI abnormalities | 9/16 | 56% |
| Gait abnormalities | 10/18 | 55% |
| Attention deficit hyperactivity disorder | 8/15 | 53% |
| Seizures | 8/18 | 44% |
| Strabism | 7/21 | 33% |
| Visual impairment | 6/21 | 29% |
| Abnormal respiration | 5/19 | 26% |
| Agressive behavior | 4/17 | 24% |
| Myopia/Hyperopia | 4/21 | 19% |
| Craniofacial abnormalities | ||
| Epicanthic folds | 11/21 | 52% |
| Thin upper lip | 11/21 | 52% |
| Dental anomalies | 9/19 | 47% |
| Frontal bossing | 9/21 | 43% |
| Open mouth appearance | 9/21 | 43% |
| Deep set eyes | 9/21 | 43% |
| Upslanting palpebral fissures | 6/21 | 29% |
| Congenital anomalies of the skull | 6/21 | 29% |
| Helix anomalies | 5/21 | 24% |
| Broad nasal bridge | 3/21 | 14% |
| Other findings | ||
| Neonatal feeding difficulties | 12/19 | 63% |
| Skeletal anomalies | 9/19 | 47% |
| Gastroesophageal reflux | 7/19 | 37% |
| Heart anomalies | 6/18 | 33% |