TABLE 2.
Demographic and phenotypic characteristics of the fifty probands evaluated by exome sequencing (ES).
| Characteristics | Value no (%) |
|---|---|
| Gender | |
| Female | 21 (42.0%) |
| Male | 29 (58.0%) |
| Age (years) | |
| Mean | 5.4 |
| Range | .2–17.8 |
| Ethnicity | |
| Ashkenazi Jews | 10 (20.0%) |
| Sephardic Jews | 5 (10.0%) |
| Mixed Ashkenazi-Sephardic ethnicity | 10 (20.0%) |
| Arab | 17 (34.0%) |
| Kurdish | 2 (4.0%) |
| Others | 6 (12.0%) |
| Consanguinity | 11 (22.0%) |
| Type of ES | |
| Single | 33 (66.0%) |
| Duo | 1 (2.0%) |
| Trio | 16 (32.0%) |
| Primary phenotype at presentation a | |
| Central nervous system | 28 (56.0%) |
| Gastrointestinal (including failure to thrive) | 17 (34.0%) |
| Facial dysmorphism | 16 (32.0%) |
| Cardiovascular | 12 (24.0%) |
| Musculoskeletal (bone, connective tissue and muscle) | 11 (22.0%) |
| Nephrology/Urology | 10 (20.0%) |
| Oncology | 6 (12.0%) |
| Hematology and coagulation | 6 (12.0%) |
| Rheumatology | 6 (12.0%) |
| Endocrine | 6 (12.0%) |
| Metabolic | 5 (10.0%) |
| Neurovascular | 4 (8.0%) |
| Ophthalmology | 3 (6.0%) |
| Respiratory | 2 (4.0%) |
| Immunology | 2 (4.0%) |
| Otolaryngology | 2 (4.0%) |
| Neuromuscular | 2 (4.0%) |
| ES result | |
| Positive | 19 (38.0%) |
| Negative | 27 (54.0%) |
| Non-conclusive | 4 (8.0%) |
| Total | 50 |
a
Each patient may present with more than one phenotype.