1841 users + 148 professionals

786 active users

(>20% answers)
646

recorded genes

130

genetic defects

TOP 5
EHMT1 (Kleefstra syndrome) 49
ANKRD11 (KBG syndrome) 37
KANSL1 (KdV syndrome) 34
PTPN11 (Noonan syndrome) 32
MED13L 29
TOP 5
17q21.31 deletion (KdV syndrome) 178
9q34.3 deletion (Kleefstra syndrome) 44
VALDEV project (non-genetic) 38
Xq28 dup. (MECP2 dup. syndrome) 36
Kleefstra syndrome (9q34.3del or EHMT1mut) 30

Participants' countries of origin

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

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