Table 1 Cohort demographics and clinical features
From: Genetic analysis of CHARGE syndrome identifies overlapping molecular biology
Cohort | |
Total individuals | 67 |
Number of probands | 28 |
Trios (proband and parents) | 19 |
Duo (proband and mother) | 1 |
Singletons | 8 |
Proband demographics | |
Age | 18 m–40 y |
Males | 13 (46.4%) |
Females | 15 (53.6%) |
Proband history of CHD7 genetic testing | |
Negative | 12 (42.9%) |
Not previously tested | 16 (57.1%) |
Proband major clinical features | |
Coloboma | 26/28 (92.9%) |
Choanal atresia or cleft palate | 19/28 (67.9%) |
Abnormal external, middle, or inner ears | 19/28 (67.9%) |
Proband minor clinical features | |
Cranial nerve dysfunction (including hearing loss) | 20/28 (71.4%) |
Dysphagia/feeding difficulties | 8/28 (28.6%) |
Structural brain abnormalities | 3/28 (10.7%) |
Developmental delay, intellectual disability, or autism spectrum disorder | 22/28 (78.6%) |
Hypothalamo-hypophyseal dysfunction and genital anomalies | 13/28 (46.4%) |
Heart or esophageal malformations | 20/28 (71.4%) |
Renal anomalies or skeletal/limb anomalies | 12/28 (42.9%) |
