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Table 1 Comparison of clinical features of CMH000079, patients with ASXL3 mutations described by Bainbridge et al. [[23]], and those reported in patients with BOS
| CMH000079 | Reported in Bainbridge et al. | Reported in Bohring-Opitz | |
|---|---|---|---|
| Trigonocephaly | Y | N | Y |
| Microcephaly | Y | Y | Y |
| Flammeus nevus | N | N | Y |
| Prominent eyes | Y | Y | Y |
| Micro- or retrognathia | N | Y | Y |
| Abnormal palate | N | Y | Y |
| Typical BOS posture | N | N | Y |
| Feeding difficulties | Y | Y | Y |
| IUGR | Y | Y | Y |
| Severe/profound learning difficulties | Y | Y | Y |
| Upslanting palpebral fissures | Y | NA | Y |
| Posteriorly rotated eats | Y | Y | Y |
| High arched palate | N | Y | N |
| Deep palmar creases | N* | Y | N |
| Slight ulnar deviation of the hands | N | Y | N |
| Recurrent infections | Y | NA | Y |
| Seizures | N | NA | Y |
| Arrhythmias | N | NA | Y |
| Apneas | Y# | NA | Y |
| Epicanthal folds | Y | NA | Y |
| Broad alveolar ridges | N | NA | Y |
| Cleft/notch lip | N | NA | Y |
| Cleft palate | N | NA | Y |
| Buccal frenulae | N | NA | Y |
| Depressed nasal bridge | Y | Y | Y |
| Anteverted nares | Y | Y | Y |
| Strabismus | N | NA | Y |
| Anterior chamger abnormalities | N | NA | Y |
| Myopia | Y | NA | Y |
| Retinal/optic nerve abnormalities | N | NA | Y |
| Low hairline | N | NA | Y |
| Hypertrichosis | Y | NA | Y |
| Fixed contractures | N | NA | Y |
| Congenital dislocations | N | NA | Y |
| Hypotonia | Y (trunk) | Y | Y |
| Hypertonia | Y (distal) | Y | Y |
| Brain abnormalities | Y | Y | Y |
| Genital abnormalities | N | NA | Y |
| Renal abnormalities | N | NA | Y |
| Cardiac abnormalities | N | NA | Y |
