2607 users + 208 professionals

1489 active users

(>20% answers)
671

recorded genes

141

genetic defects

TOP 5
EHMT1 (Kleefstra syndrome) 136
ANKRD11 (KBG syndrome) 46
DDX3X 46
MED13L 44
KANSL1 (KdV syndrome) 42
TOP 5
17q21.31 deletion (KdV syndrome) 197
9q34.3 deletion (Kleefstra syndrome) 113
Xq28 dup. (MECP2 dup. syndrome) 43
VALDEV project (non-genetic) 38
22q11.2 deletion (DiGeorge syndrome) 18

Participants' countries of origin

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

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