Table 1.

Clinical parameters of included cases

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