Table 1 Demographic information
From: Exome sequencing in neonates: diagnostic rates, characteristics, and time to diagnosis
Characteristic | Number of probands ( n = 66) |
|---|---|
Gender | |
Male | 41 (62.1%) |
Female | 25(37.9%) |
Ethnicity | |
Caucasian | 22 (33.3%) |
Hispanic | 15 (22.7%) |
Multiple ethnicities | 13 (19.7%) |
African American | 5 (7.6%) |
Asian | 4 (6.1%) |
Middle Eastern | 2 (3.0%) |
Unknown/other | 2 (3.0%) |
Ashkenazi Jewish | 2 (3.0%) |
Jamaican | 1 (1.5%) |
Clinical history a | |
Multiple congenital anomalies | 38 (57.6%) |
Dysmorphic features | 21 (31.8%) |
Abnormal brain MRI | 19 (28.8%) |
Failure to thrive/undergrowth | 12 (18.1%) |
Hypotonia | 9 (13.6%) |
Seizures/epilepsy | 8 (12.1%) |
Progressive phenotype | 7 (10.6%) |
Intellectual disability/developmental delay | 5 (7.6%) |
Overgrowth | 3 (4.5%) |
Organ system involvement a | |
Cardiovascular | 33 (50.0%) |
Neurologic | 30 (45.5%) |
Musculoskeletal/structural | 29 (43.9%) |
Craniofacial | 25 (37.9%) |
Gastrointestinal | 19 (28.8%) |
Pulmonary | 18 (27.3%) |
Metabolic/biochemical | 13 (19.7%) |
Renal | 16 (24.2%) |
Ophthalmologic | 12 (18.1%) |
Genitourinary | 11 (16.7%) |
Endocrine | 7 (10.6%) |
Hematologic | 5 (7.6%) |
Dermatologic | 4 (6.1%) |
Audiologic/otolaryngologic | 3 (4.3%) |
Allergy/immunologic/infectious | 2 (3.0%) |
Dental | 2 (3.0%) |
Oncologic | 1 (1.5%) |
