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Table 1 Tabulation of clinical manifestations of individual family members

From: Extreme intra-familial variability of congenital central hypoventilation syndrome: a case series

  Case
  1 2 3 4 5 6 7 8 9 10
III-3 II-5 III-4 I-1 II-4 II-3 III-2 IV-1 II-2 III-1
Pupillary abnormalities + + + + + + ? ? ? ?
Obstructive sleep apnea - + - + + + - - ? ?
Neonatal apneas/desaturations + ? + ? ? ? ? + ? ?
Low resting O2 saturation levels - + - - + - - + ? ?
Pulmonary hypertension - - - - + - - - ? ?
Cardiac arrest - - - + - - - - ? ?
Hirschsprung disease + - - - - - - + ? ?+
Constipation - - + + - - + - ? ?
Episodic diaphoresis - + - - - + - - ? ?
Neural crest tumors - - - - - - - - ? ?
  1. Present (+), Absent (−), (?) Unknown or not formally assessed.