Table 4.
Summary of main clinical features described in individuals harboring SRSF1 variants
| Number of individuals with pathogenic SRSF1 variant | Total number of individuals with SRSF1 variant including VUS variants | |
|---|---|---|
| ID or DD | 15/15 | 17/17 |
| Speech delay | 14/15 | 16/17 |
| Motor delay | 11/15 | 13/17 |
| Hypotonia | 9/14 | 11/16 |
| Behavior disorders | 12/15 | 13/17 |
| Abnormal brain MRI | 4/10 | 6/12 |
| Cardiac malformation | 6/13 | 6/14 |
| Urogenital malformation | 6/11 | 6/13 |
| Skeletal abnormalities | 10/15 | 10/17 |
| Marfanoid features | 3/15 | 3/17 |
DD, developmental delay; ID, intellectual disability; VUS, variant of uncertain significance.