Table 2.
Common Facial Features of Individuals with WDR26 Mutations and 1q41 Microdeletions
| Features | WDR26 (n = 15) | 1q41q42 Microdeletions Including WDR26 (n = 17) |
|---|---|---|
| Developmental delay or intellectual disability | 15/15 | 15/15 |
| Seizures | 15/15 | 13/14 |
| CNS structural anomalies | 10/14 | 11/15 |
| Hypotonia | 9/12 | 5/15 |
| Abnormal gait | 9/9 | 1/15 |
| Happy and/or friendly personality | 10/11 | 2/2 |
| Autistic and/or repetitive behaviors or posturing | 5/9 | 1/1 |
| Coarse facial features | 12/15 | 12/16 |
| Full cheeks as a child | 11/13 | 7/8 |
| Abnormal eyebrows | 6/15 | 5/12 |
| Depressed nasal root | 5/15 | 11/15 |
| Anteverted nares | 8/15 | 9/13 |
| Full nasal tip | 11/15 | 9/14 |
| Prominent maxilla and protruding upper lip | 13/15 | 7/12 |
| Decreased cupid’s bow | 11/15 | 10/12 |
| Widely spaced teeth | 13/15 | 7/8 |
| Abnormal gums | 9/15 | 6/6 |
Fractions indicate the number observed over the number reported or ascertained. The following abbreviation is used: CNS, central nervous system.