Table 1.
Clinical Description of Patients for Whom Whole-Exome Sequencing Was Ordered.
| Primary Phenotype Category | Age Group at Testing | ||||
|---|---|---|---|---|---|
| Fetus | <5 Yr | 5–18 Yr | >18 Yr | Total | |
| Neurologic disorder* | 0 | 31 | 27 | 2 | 60 |
| Neurologic disorder and other organ-system disorder | 1 | 74 | 54 | 11 | 140 |
| Specific neurologic disorder† | 0 | 5 | 5 | 3 | 13 |
| Non-neurologic disorder | 3 | 14 | 8 | 12 | 37 |
| Total | 4 | 124 | 94 | 28 | 250 |
*
Neurologic disorders included developmental delay, speech delay, autism spectrum disorder, and intellectual disability.
†
Patients in this category had a specific neurologic problem such as ataxia or seizure.