Welcome - Kleefstra syndrome (Ks) Community

What is Kleefstra syndrome (Ks) ?

Kleefstra syndrome (Ks) is a rare genetic disorder characterised by intellectual disability, often accompanied by a spectrum of complex physical and clinical features. The predominant cause of Ks is a tiny piece missing (known as a deletion) from near the end of chromosome 9. However individuals with a mutation, or intragenic duplication also carry a Ks diagnosis. The deletion or mutation affects a gene called EHMT1 (Euchromatic Histone Methyltransferase 1) and it's absence or disturbance is believed to cause the major symptoms of the syndrome. The syndrome was officially recognised as Kleefstra syndrome in April 2010. Ks has previously been known as 9q34.3 deletion syndrome, 9qSTDS (short for 9q subtelomeric deletion syndrome), 9q-Syndrome, 9q34.3 microdeletion syndrome.

Source: Kleefstrasyndrome.org

Kleefstra syndrome (Ks) Resources

More members stories

Latest Member Stories

Hi my name is Jimena Restrepo

by juliandrestrepo published 22 days ago
One comment

Hy my name is Jimena Restrepo i have 11 months I just got diagnosed with the kleefstra sidrome, However i have very good health,
I eat very well,...

Anileth - 6 years old

by linethalvarado published 2 months ago
One comment

With a normal pregnancy, doctors did a c-section for his heart rate. But everything seemed normal. It was not until she was achieving her developme...

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