1735 users + 146 professionals

964 active users

(>20% answers)
646

recorded genes

129

genetic defects

TOP 5
EHMT1 (Kleefstra syndrome) 75
KANSL1 (KdV syndrome) 42
ANKRD11 (KBG syndrome) 38
PTPN11 (Noonan syndrome) 35
DDX3X 33
TOP 5
17q21.31 deletion (KdV syndrome) 186
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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