2688 users + 202 professionals

1581 active users

(>20% answers)
673

recorded genes

148

genetic defects

TOP 5
EHMT1 (Kleefstra syndrome) 141
DDX3X 48
ANKRD11 (KBG syndrome) 47
MED13L 45
KANSL1 (KdV syndrome) 44
TOP 5
17q21.31 deletion (KdV syndrome) 200
9q34.3 deletion (Kleefstra syndrome) 115
Xq28 dup. (MECP2 dup. syndrome) 45
VALDEV project (non-genetic) 37
22q11.2 deletion (DiGeorge syndrome) 19

Participants' countries of origin

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

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