2154 users + 172 professionals

1232 active users

(>20% answers)
666

recorded genes

139

genetic defects

TOP 5
EHMT1 (Kleefstra syndrome) 92
KANSL1 (KdV syndrome) 58
ANKRD11 (KBG syndrome) 41
MED13L 41
DDX3X 38
TOP 5
17q21.31 deletion (KdV syndrome) 202
9q34.3 deletion (Kleefstra syndrome) 64
Xq28 dup. (MECP2 dup. syndrome) 41
VALDEV project (non-genetic) 38
Kleefstra syndrome (9q34.3del or EHMT1mut) 37

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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