2743 users + 204 professionals

1631 active users

(>20% answers)
674

recorded genes

148

genetic defects

TOP 5
EHMT1 (Kleefstra syndrome) 143
ANKRD11 (KBG syndrome) 49
DDX3X 49
KANSL1 (KdV syndrome) 45
MED13L 45
TOP 5
17q21.31 deletion (KdV syndrome) 202
9q34.3 deletion (Kleefstra syndrome) 115
Xq28 dup. (MECP2 dup. syndrome) 46
VALDEV project (non-genetic) 37
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)

Cohorts Overview

Loading data...
Loading data...
Loading data...
Loading data...

Partners