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Kleefstra syndrome

  • About Kleefstra Syndrome
    • What is Kleefstra syndrome?
    • Living with Kleefstra syndrome
    • Facial Phenotypes
    • Kleefstra syndrome and KMT2C
    • About Dr. Kleefstra
  • Support
    • GENIDA Digital Registry
    • Resources
    • Useful Links
    • Call-back Service
  • Awareness
    • KS Awareness Day
    • Downloads
  • Events
    • Future Events
    • Past Events
  • Sign Up
  • About Us
    • Meet the Team
    • Mission Statement
    • Support Us
    • Easyfundraising
    • Partners
    • Contact Us
    • Our Policies
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Home›Front Page›Support›GenIDA Update (September 2017)

GenIDA Update (September 2017)

By mousem
13th September 2017
1303
0

GenIDA

The team behind the Ks Digital Registry, GenIDA are now curating the data which has been collected for the Kleefstra syndrome in collaboration with Tjitske Kleefstra. If you have registered on the GenIDA website and submitted data we would ask that you check you have included the following:

  • The exact genetic diagnosis.  Is it a 9q34.3 deletion or a mutation in the EHMT1 gene? If you know the borders of the 9q34.3 deletion (ie. arr 9q34.3(140000000-141000000)x1) or the EHMT1 mutation (ie. EHMT1,c.3000G>A, p.Trp1200Ter), it would be perfect.
  • The birth year and month of your child/relative affected by the Kleefstra syndrome.
  • Your child/relative gender.

For GenIDA to perform optimal analysis of the information you have submitted it’s very important that they have this information.

To submit this information or if you have any queries you can contact the team direct by emailing genida@igbmc.fr

For further information on the GenIDA digital registry, please see our GenIDA page.

GenIDA would like to pass on their thanks to everyone who has taken part so far.

 

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