2422 users + 195 professionals

1394 active users

(>20% answers)
671

recorded genes

140

genetic defects

TOP 5
EHMT1 (Kleefstra syndrome) 104
KANSL1 (KdV syndrome) 53
ANKRD11 (KBG syndrome) 44
DDX3X 44
MED13L 43
TOP 5
17q21.31 deletion (KdV syndrome) 211
9q34.3 deletion (Kleefstra syndrome) 72
Xq28 dup. (MECP2 dup. syndrome) 42
Kleefstra syndrome (9q34.3del or EHMT1mut) 40
VALDEV project (non-genetic) 38

Participants' countries of origin

(This chart only takes in account relatives for which we have at least 10 answers)

Cohorts Overview

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