Table 1.
Phenotype of probands with Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD) in discovery and replication cohorts
| Cohort | Number of probands | Gender | Race/ethnicity | Age at rapid-onset obesity onset mean (range) in years | Hypothalamic dysfunction | Hypoventilation | Artificial ventilation | Autonomic dysregulation | Tumour of neural crest origina |
|---|---|---|---|---|---|---|---|---|---|
| Discovery Cohort (Trios) | 7 | 5 F; 2 M | 7 Caucasian | 4.4 (2–8) | 7/7 | 7/7 | 7/7 | 7/7 | 5/7 |
| Replication Cohort | 28 | 16 F; 12 M | 17 Caucasian; 5 Hispanic; 6 Asian | 3.7 (1.8-8) | 28/28 | 28/28 | 28/28 | 28/28 | 10/28 |
aTumors were ganglioneuromas or ganglioneuroblastomas of the chest and abdomen