Table 1.
Demographic information
| Characteristic | Overall (n = 41) | Positive (n = 13) |
|---|---|---|
| Gender | ||
| Male | 20 (48.8%) | 10 (76.9%)a |
| Female | 21 (51.2%) | 3 (23.1%) |
| Ethnicity | ||
| African American | 2 (4.9%) | 1 (7.7%) |
| Asian | 8 (19.5%) | 4 (30.8%) |
| Caucasian | 19 (46.3%) | 6 (46.2%) |
| Hispanic | 1 (2.4%) | 0 (0.0%) |
| Mixed ethnicity | 5 (12.2%) | 1 (7.7%) |
| Unknown | 6 (14.6%) | 1 (7.7%) |
| Age at testing | ||
| <1 year | 21 (51.2%) | 8 (29.4%) |
| 1–17 years | 17 (41.5%) | 5 (29.4%) |
| Adults | 3 (7.3%) | 0 (0%) |
| Clinical history | ||
| Multiple congenital anomalies | 7 (17.1%) | 2 (15.4%) |
| MR/ID/DD | 15 (36.6%) | 7 (53.8%) |
| ASD | 3 (7.3%) | 1 (7.7%) |
| Psychiatric | 3 (7.3%) | 1 (7.7%) |
| Seizures/epilepsy | 15 (36.6%) | 3 (23.1%) |
| Movement disorders | 12 (29.3%) | 4 (30.8%) |
| Brain MRI positive | 19 (46.3%) | 6 (46.2%) |
| Phenotype is progressive | 10 (24.4%) | 3 (23.1%) |
| Dysmorphic features | 13 (31.7%) | 4 (30.8%) |
| FTT/undergrowth | 9 (22.0%) | 4 (30.8%) |
| Overgrowth | 0 (0.0%) | 0 (0.0%) |
| Hypotonia | 15 (36.6%) | 6 (46.2%) |
| Organ system involvement | ||
| Allergy/immunologic/infectious | 10 (24.4%) | 4 (30.8%) |
| Audiologic/otolaryngologic | 2 (4.9%) | 1 (7.7%) |
| Cardiovascular | 11 (26.8%) | 3 (23.1%) |
| Craniofacial | 6 (14.6%) | 2 (15.4%) |
| Dental | 0 (0.0%) | 0 (0.0%) |
| Hematologic | 9 (22.0%) | 3 (23.1%) |
| Dermatologic | 1 (2.4%) | 0 (0.0%) |
| Endocrine | 4 (9.8%) | 0 (0.0%) |
| Gastrointestinal | 11 (26.8%) | 3 (23.1%) |
| Genitourinary | 6 (14.6%) | 2 (15.4%) |
| Metabolic/biochemical | 8 (19.5%) | 2 (15.4%) |
| Musculoskeletal/structural | 17 (41.5%) | 5 (38.5%) |
| Neurologic | 31 (75.6%) | 10 (76.9%) |
| Obstetric | 0 (0.0%) | 0 (0.0%) |
| Oncologic | 1 (2.4%) | 0 (0.0%) |
| Ophthalmologic | 5 (12.2%) | 1 (7.7%) |
| Pulmonary | 10 (24.4%) | 6 (46.2%)a |
| Renal | 6 (14.6%) | 1 (7.7%) |
a
Statistically significant.