Table 3.
Comparison of effects of variant type on clinical manifestations.
| Missense mutations | LOF mutationsa | All | |
|---|---|---|---|
| ID/LD | 90.9% | 94.1% | 92.9% |
| Moderate to profound | 50% | 41.1% | 44.6% |
| Speech delay or disability | 84.2% | 90.3% | 88% |
| Motor delay or disability | 73.9% | 83.8% | 80% |
| Seizures | 83.3% | 92.1% | 88.7% |
| Age at seizure onset | |||
| <24 span month | 80% | 91.4% | 87.3% |
| ≥24 months | 20% | 8.6% | 12.7% |
| Generalized tonic or tonic–clonic seizures | 60% | 68.6% | 65.4% |
| Other types of seizures | 65% | 51.4% | 56.3% |
| Medically refractory | 38.5% | 37.9% | 38.1% |
| Short stature | 60% | 69.2% | 65.2% |
ID, intellectual disability; LD, learning disability; LoF, loss of function.
a
All deletions, duplication, frameshift, nonsense, start-loss, and splice site were considered predicted LoF for this table.