Summary of the main clinical features found in our cohort of 315 patients
| Main clinical features | Total number of cases | % (a) | Number of cases with identified gene | % (b) |
| AMC | 315 | 100 | 166 | 100 |
| AMC prenatal discovery | 251/315 | 79.7 | 129/166 | 77.7 |
| AMC postnatal discovery | 62/315 | 19.7 | 36/166 | 21.7 |
| AMC unknown age of discovery | 2/315 | 0.6 | 1/166 | 0.6 |
| IUGR | 30/315 | 9.5 | 7/166 | 4.2 |
| Ombilical artery anomaly | 3/315 | 1.0 | 0/166 | 0.0 |
| Liver anomalies | 4/315 | 1.3 | 1/166 | 0.6 |
| Eye anomalies | 5/315 | 1.6 | 3/166 | 1.8 |
| Ear anomalies | 4/315 | 1.3 | 2/166 | 1.2 |
| Sex anomalies | 6/315 | 1.9 | 3/166 | 1.8 |
| Epilepsy | 9/146 | 6.2 | 6/83 | 7.2 |
| Intellectual disability | 16/146 | 11.0 | 6/83 | 7.2 |
| Brain malformation | 19/315 | 6.0 | 4/166 | 2.4 |
| Bone agenesis | 2/315 | 0.6 | 1/166 | 0.6 |
| Congenital heart defect | 14/315 | 4.4 | 9/166 | 5.4 |
| Cardiomyopathy | 3/315 | 1.0 | 0/166 | 0.0 |
| Kidney anomalies | 10/315 | 3.2 | 4/166 | 2.4 |
| Haemangioma | 12/146 | 8.2 | 5/83 | 6.0 |
The percentage in (a) is the number of index patients with additional clinical features reported to the total number of AMC index patients (n=315) except when the clinical features may be detected after delivery only (n=146). The percentage in (b) is the number of index patients with additional clinical features reported to the total number of AMC index patients with identified gene only (n=166) except when the clinical features may be detected after delivery only (n=83).
AMC, arthrogryposis multiplex congenita.