Table 1.

Major cohorts in GenIDA (as of July 2022)

Cohort	Gene/genetic defect (OMIM number)	Number of participants (GenIDA, as of July 2022)
Koolen-de Vries syndrome	17q21.31 deletion (OMIM #610443) or KANSL1 pathogenic variants* (OMIM #612452)	241
Kleefstra syndrome	9q34.3 deletion (OMIM #610253) or EHMT1 pathogenic variants* (OMIM #607001)	185
RASopathies	PTPN11 (OMIM #176876), BRAF (OMIM #164757) and SOS1 (OMIM #182530) pathogenic variants* mainly	61
KBG syndrome	16q24.2 / 16q24.2q24.3 deletion (OMIM #148050) or ANKRD11 pathogenic variants* (OMIM #611192)	48
DDX3X	DDX3X pathogenic variants* (OMIM # 300160)	47
MED13L syndrome	MED13L pathogenic variants* (OMIM #608771)	45

*(including likely pathogenic variants)