1949 users + 155 professionals

1115 active users

(>20% answers)
663

recorded genes

139

genetic defects

TOP 5
EHMT1 (Kleefstra syndrome) 80
KANSL1 (KdV syndrome) 49
ANKRD11 (KBG syndrome) 41
MED13L 38
PTPN11 (Noonan syndrome) 35
TOP 5
17q21.31 deletion (KdV syndrome) 195
9q34.3 deletion (Kleefstra syndrome) 57
Xq28 dup. (MECP2 dup. syndrome) 39
VALDEV project (non-genetic) 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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