2117 users + 250 professionals

1971 active users

(>20% answers)
689

recorded genes

150

genetic defects

TOP 5
EHMT1 (Kleefstra syndrome) 137
DDX3X 69
ANKRD11 (KBG syndrome) 55
KANSL1 (KdV syndrome) 50
MED13L 50
TOP 5
17q21.31 deletion (KdV syndrome) 221
9q34.3 deletion (Kleefstra syndrome) 119
Xq28 dup. (MECP2 dup. syndrome) 48
VALDEV project (non-genetic) 35
délétion 22q11 ou microdélétion 22q11.2 (DiGeorge syndrome) 24

Participants' countries of origin

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

Cohorts Overview

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