1687 users + 142 professionals

945 active users

(>20% answers)
563

recorded genes

112

genetic defects

TOP 5
EHMT1 (Kleefstra syndrome) 74
KANSL1 (KdV syndrome) 41
ANKRD11 (KBG syndrome) 38
PTPN11 (Noonan syndrome) 35
MED13L 31
TOP 5
17q21.31 deletion (KdV syndrome) 184
9q34.3 deletion (Kleefstra syndrome) 51
VALDEV project (non-genetic) 38
Xq28 dup. (MECP2 dup. syndrome) 38
Kleefstra syndrome (9q34.3del or EHMT1mut) 35

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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