Table 1

Demographic characteristics of the University of Washington Joubert syndrome cohort

CharacteristicN%*
Current age (years)
 0–917833.5
 10–1915729.5
 20–296512.2
 30–39244.5
 ≥4061.1
 Unknown age427.9
Deceased
 Terminations of pregnancy112.1
 Other deaths†499.2
Total532100
Continent of residence
 North America31659.4
 Europe519.6
 Australia234.3
 South America173.2
 Asia (Middle East=88)12523.5
Families with known consanguinity*8419.1
Male29555.5
Families with ≥1 affected child*7917.9
  • *Percentages are calculated by individual for all variables except consanguinity and >1 affected child.

  • *†Includes one in utero demise.