Table 2

Clinical characteristics of 10 families

FamilyDNMs shared by siblingsHistory of adverse pregnancy*Clinical phenotype of probands
1Yes2Intellectual disability, recurrent epilepsy
2Yes4Fetus with left varus foot, growth restriction
3No1Polycystic kidney disease
4No1Left eye exotropia, growth retardation
5No1Hypophosphatemic rickets
6No1Language delay
7No1Split-hand/split-foot malformation
10No1Myasthenia, dysphagia
  • *Criteria included unexplained spontaneous abortions, embryonic arrest and stillbirths or a live baby affected with the monogenic disorder.