Table 1

Denominators used to calculate prevalence of findings in individuals with intragenic sequence determined mutations in ZIC2

ProbandsAll affected individuals*
Total patients103141
Gender90127
Holoprosencephaly (HPE) type86105
Structural neurological findings8192
Inheritance6585
Extra-neurological findings6476
Facial phenotype5959
  • * Including probands and relatives.

  • In addition to HPE.

  • 30 photos, 29 full facial descriptions.