In some instances in the history of the family in which the syndrome was first described, the syndrome was present at birth. The mutations were found by various methods, including whole-genome sequencing, X-chromosome exome sequencing, and direct sequencing of the ZC4H2 gene: all mutations were confirmed by Sanger sequencing and segregated with the disorder in the families. There were 3 missense and 1 splice site mutations. The mutations were found by exome sequencing in some of the families.
Wieacker syndrome
Nutcracker syndrome
Heyde's syndrome
Löffler's syndrome
Meigs's syndrome
Foerster's syndrome
Waltman Walter syndrome
Riddoch syndrome