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Table 1 Phenotype of probands with Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD) in discovery and replication cohorts

From: Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours

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
  1. aTumors were ganglioneuromas or ganglioneuroblastomas of the chest and abdomen