Table 1 Summary of the main clinical signs of individuals carrying SF3B1 variants
From: De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders
Total missense | Total pLoF | Total | ||
|---|---|---|---|---|
Growth | Short stature | 7/13 | 1/7 | 8/20 |
Neurodevelopment | Microcephaly | 6/14 | 1/8 | 7/22 |
Developmental delay | 16/17 | 7/9 | 23/26 | |
Language delay | 14/17 | 7/9 | 21/26 | |
Motor delay | 13/15 | 5/9 | 18/24 | |
Intellectual disability | 6/9 | 3/6 | 9/15 | |
Seizures | 7/17 | 6/9 | 13/25 | |
Hypotonia | 9/15 | 2/9 | 11/24 | |
Malformations | Dysmorphic features | 15/17 | 5/9 | 20/26 |
Cleft palate / palatal abnormality | 11/17 | 1/9 | 12/26 | |
Hand/foot abnormalities | 7/14 | 4/9 | 11/23 | |
Gastrointestinal abnormalities | 9/14 | 2/9 | 11/23 | |
Cardiac abnormalities | 7/16 | 1/9 | 8/25 |
