2185 users + 264 professionals

76 active users

(>20% answers)
716

recorded genes

150

genetic defects

TOP 5
KANSL1 (KdV syndrome) 2
GATAD2B 1
SLC6A8 (Cerebral creatine deficiency syndrome 1) 1
DDX3X 0
FOXP1 0
TOP 5
17q21.31 deletion (KdV syndrome) 50
délétion 22q11 ou microdélétion 22q11.2 (DiGeorge syndrome) 0

Participants' countries of origin

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

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