2633 users + 209 professionals

1538 active users

(>20% answers)
672

recorded genes

142

genetic defects

TOP 5
EHMT1 (Kleefstra syndrome) 138
ANKRD11 (KBG syndrome) 47
DDX3X 47
MED13L 45
KANSL1 (KdV syndrome) 44
TOP 5
17q21.31 deletion (KdV syndrome) 199
9q34.3 deletion (Kleefstra syndrome) 114
Xq28 dup. (MECP2 dup. syndrome) 45
VALDEV project (non-genetic) 37
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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