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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