1637 users + 133 professionals

929 active users

(>20% answers)
562

recorded genes

112

genetic defects

TOP 5
EHMT1 (Kleefstra syndrome) 73
KANSL1 (KdV syndrome) 39
ANKRD11 (KBG syndrome) 38
PTPN11 (Noonan syndrome) 34
MED13L 31
TOP 5
17q21.31 deletion (KdV syndrome) 182
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)

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