2063 users + 166 professionals

1178 active users

(>20% answers)
665

recorded genes

139

genetic defects

TOP 5
EHMT1 (Kleefstra syndrome) 87
KANSL1 (KdV syndrome) 50
ANKRD11 (KBG syndrome) 41
MED13L 39
PTPN11 (Noonan syndrome) 37
TOP 5
17q21.31 deletion (KdV syndrome) 196
9q34.3 deletion (Kleefstra syndrome) 61
Xq28 dup. (MECP2 dup. syndrome) 41
VALDEV project (non-genetic) 38
Kleefstra syndrome (9q34.3del or EHMT1mut) 36

Participants' countries of origin

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

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