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. 2013 Apr 26;7:117. doi: 10.1186/1752-1947-7-117

Table 1.

Tabulation of clinical manifestations of individual family members

 
 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 - - - - - - - - ? ?

Present (+), Absent (−), (?) Unknown or not formally assessed.