Table 1.
Demographic characteristics and primary symptoms of all study participants
| All probands | Pediatric probandsa | Adult probandsa | |
|---|---|---|---|
| Total | 100 | 79 | 21 |
| Male | 57 (57%) | 48 (61%) | 9 (43%) |
| Female | 43 (43%) | 31 (39%) | 12 (57%) |
| ES or GS nontrio sequencing | 16 (16%) | 8 (10%) | 8 (38%) |
| ES or GS trio sequencing | 84 (84%) | 71 (90%) | 13 (62%) |
| Primary symptomsb | |||
| Neurology | 47 (47%) | 37 (47%) | 10 (48%) |
| Musculoskeletal and orthopedics | 21 (21%) | 13 (17%) | 8 (38%) |
| Multiple congenital anomalies | 10 (10%) | 10 (13%) | 0 (0%) |
| Gastroenterology | 7 (7%) | 5 (7%) | 2 (10%) |
| Endocrinology | 4 (4%) | 4 (6%) | 0 (0%) |
| Dermatology | 3 (3%) | 3 (4%) | 0 (0%) |
| Allergies and disorders of the immune system | 2 (2%) | 2 (3%) | 0 (0%) |
| Infectious diseases | 2 (2%) | 2 (3%) | 0 (0%) |
| Cardiology and vascular conditions | 2 (2%) | 2 (3%) | 0 (0%) |
| Rheumatology | 1 (1%) | 0 (0%) | 1 (5%) |
| Pulmonology | 1 (1%) | 1 (1%) | 0 (0%) |
ES exome sequencing, GS genome sequencing.
Pediatric probands were ≤18 year old and adult probands were >18 year old at the time of enrollment.
Neurology: disorders of the nervous system, including brain and spinal cord; musculoskeletal and orthopedics: structural and functional disorders of muscles, bones, and joints; multiple congenital anomalies: multiple pediatric disorders; gastroenterology: disorder of the stomach and intestines; endocrinology: disorder of the endocrine glands and hormones; dermatology: skin diseases and disorders; allergies and disorders of the immune system; infectious diseases; cardiology and vascular conditions: heart, artery, vein, and lymph disorders; rheumatology: immune disorders of the joints, muscles, and ligaments; pulmonology: lung disorders and diseases.