2874 users + 210 professionals

1734 active users

(>20% answers)
676

recorded genes

148

genetic defects

TOP 5
EHMT1 (Kleefstra syndrome) 146
DDX3X 53
ANKRD11 (KBG syndrome) 51
KANSL1 (KdV syndrome) 46
MED13L 46
TOP 5
17q21.31 deletion (KdV syndrome) 203
9q34.3 deletion (Kleefstra syndrome) 115
Xq28 dup. (MECP2 dup. syndrome) 47
VALDEV project (non-genetic) 39
22q11.2 deletion (DiGeorge syndrome) 20

Participants' countries of origin

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

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