Characteristics of the UDP-Vic
| Total cohort | 150 |
| Sex of proband | |
| Male | 87 (58.0) |
| Female | 63 (42.0) |
| Consanguineous family | |
| Yes | 10 (6.7) |
| No | 140 (93.3) |
| Affected relatives | |
| First-degree relatives | 16 (10.7) |
| Second-degree relatives | 3 (2.0) |
| Phenotype category | |
| Syndromic neurodevelopmental | 93 (62.0) |
| Non-syndromic neurodevelopmental | 22 (14.7) |
| MCA/dysmorphism (non-neurodevelopmental) | 19 (12.7) |
| Neuromuscular | 5 (3.3) |
| Craniofacial | 2 (1.3) |
| Musculoskeletal | 4 (2.7) |
| Dermatological | 2 (1.3) |
| Haematological | 2 (1.3) |
| Ocular | 1 (1.1) |
| Deceased | |
| Total deceased | 10 (6.7) |
| Deceased at the time of diagnosis | 2 (1.3) |
Table 2 The table shows the phenotype characteristics of the UDP-Vic, n (%).
MCA, multiple congenital anomalies; UDP-Vic, Undiagnosed Diseases Program-Victoria.