Table 3.

Clinical presentations of patients with ROHHADNET syndrome (IPD).

Clinical findings	Total number of patients (n=48)
	Number of patients (%)
Rapid obesity	40 (83.3%)
Hypoventilation	36 (75.0%)
Obstructive sleep apnea	21 (43.8%)
Respiratory distress	5 (10.4%)
Cyanotic episodes	4 (8.3%)
Hypothalamic dysfunction	40 (83.3%)
Growth hormone deficiency	13 (25.3%)
Diabetes insipidus	9 (18.8%)
Polyuria/polydipsia	8 (16.7%)
Central precocious puberty	7 (14.6%)
Hypogonadotropic hypogonadism	2 (4.2%)
Premature thelarche	2 (4.2%)
Autonomic dysregulation	32 (66.7%)
Ophthalmologic abnormality	12 (25.0%)
Altered perception of pain	6 (12.5%)
Gastrointestinal dysmotility	6 (12.5%)
Cold extremity	4 (8.3%)
Neurogenic bladder	4 (8.3%)
Excessive sweating	5 (10.4%)
Thermal dysregulation	3 (6.3%)
Syncope	1 (2.1%)
Urinary incontinence	1 (2.1%)
Behavioral disorders	29 (60.4%)
Irritability & aggression	10 (20.8%)
Fatigue	4 (8.3%)
Social withdrawal	4 (8.3%)
Poor school performance	3 (6.3%)
Intellectual disability	2 (4.2%)
Mood change	2 (4.2%)
Flat affect	2 (4.2%)
Hallucination	2 (4.2%)
Major depressive disorder	1(2.1%)
Attention deficit disorder	1(2.1%)
Psychosis	1(2.1%)
Neurologic abnormality	16 (33.3%)
Seizure	7 (14.6%)
Blurring of consciousness	4 (8.3%)
Sleep disturbance	3 (6.3%)
Developmental delay	3 (6.3%)
Gait disturbance	2 (4.2%)
Nystagmus	1 (2.1%)
General weakness	1 (2.1%)
Other findings
Fever	6 (12.5%)
Papular rash	3 (6.3%)
Enuresis	2 (4.2%)
Scoliosis	2 (4.2%)
Rhabdomyolysis	1 (2.1%)
Pneumonia	1 (2.1%)
Headache	1 (2.1%)
Megaloblastic anemia	1 (2.1%)
Thrombocytopenia	1 (2.1%)
Acanthosis nigricans	1 (2.1%)
Raynaud phenomenon	1 (2.1%)
Celiac disease	1 (2.1%)
Metabolic alkalosis	1 (2.1%)
Hepatitis C	1 (2.1%)
Buffalo neck	1 (2.1%)
Tonsillar hypertrophy	1 (2.1%)
Abdominal mass	1 (2.1%)
Renal failure	1 (2.1%)
Edema	1 (2.1%)
Pulmonary hypertension	1 (2.1%)
Cough	1 (2.1%)