Table 3.

Molecular genetic and clinical findings of the 11 sibling sets with Joubert syndrome

Patient No.Family No.NIH Ciliopathy No.SexAge, yrGenePolydactylyColobomaRetinal DystrophyLiver DiseaseKidney Disease
66302m5.1TMEM67++
7301m9.5++
87271f6.7TMEM67++
9272m9.3++
108557m6.8TMEM67+++
11559m16.7+++
1916562m22.9TMEM67++
20561m24.9++
21560m29.6++
2318488m0.6C5orf42
24487f5.3
3024501m10C5orf42++
31500f11.8++
3629482f24.5C5orf42++
37481m27.6++
4436577f13.1CC2D2A
45576f15.7
74657504f19INPP5E+
757503f21+
76a66520f1.2TMEM231+/−+/−
77518f4.8+
78519f4.8+
9078390f1.9KIAA0753
91389m7
  • NIH, National Institutes of Health; m, male; f, female.

  • a Because of the young age of this patient, her retinal examination was not conclusive, and liver involvement classification, which was made on the basis of liver hyperechogenicity, was not definitive, because liver can be physiologically hyperechogenic during the first years of life.