Clinical | Cohort 1 (n = 68) | Cohort 2 (n = 156) | Cohort 3 (n = 100) |
---|---|---|---|
Gender (F/M) | 44%/56% | 44%/50%* | 37%/63% |
Main phenotype | |||
 NDD | 21 (31%) | 2 (1%) | 40 (40%) |
 NDD+ | 13 (19%) | 0 | 38 (38%) |
 Syndrome | 20 (29%) | 53 (34%) | 8 (8%) |
 Growth abnormality | 5 (7%) | 0 | 4 (4%) |
 Metabolic crisis | 0 | 0 | 3 (3%) |
 Endocrine abnormality | 2 (3%) | 0 | 1 (1%) |
 Internal malformations | 1 (1%) | 0 | 2 (2%) |
 Neuromuscular abnormality | 1 (1%) | 32 (21%) | 2 (2%) |
 CTD | 0 | 28 (18%) | 0 |
 Hereditary cancer | 3 (4%) | 33 (21%) | 0 |
 Other** | 2 (3%) | 8 (5%) | 2 (2%) |