|
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%)
|
- F female, M male, NDD neurodevelopmental disorder, NDD+ syndromic NDD, CTD connective tissue disorder. *6% no gender information (fetal sample or disorder of sex development). **Epilepsy, disorder of sex development, eye disorder, immunological disorder, and skin disease
