Table 1 Summary of clinical findings in individuals bearing AGO2 mutations.
From: Germline AGO2 mutations impair RNA interference and human neurological development
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% |
