Clinical characteristics of 10 families
| Family | DNMs shared by siblings | History of adverse pregnancy* | Clinical phenotype of probands |
| 1 | Yes | 2 | Intellectual disability, recurrent epilepsy |
| 2 | Yes | 4 | Fetus with left varus foot, growth restriction |
| 3 | No | 1 | Polycystic kidney disease |
| 4 | No | 1 | Left eye exotropia, growth retardation |
| 5 | No | 1 | Hypophosphatemic rickets |
| 6 | No | 1 | Language delay |
| 7 | No | 1 | Split-hand/split-foot malformation |
| 8 | No | 1 | Microcephaly |
| 9 | No | 1 | Pseudohypoparathyroidism |
| 10 | No | 1 | Myasthenia, dysphagia |
*Criteria included unexplained spontaneous abortions, embryonic arrest and stillbirths or a live baby affected with the monogenic disorder.