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What is CTNNB1 Syndrome?

CTNNB1 Syndrome is an extremely rare genetic mutation with only about 300 known cases worldwide. The CTNNB1 portion of the third chromosome in human DNA is responsible for the creation of beta-catenin, a protein that plays a role in cell connections and communication. There is a wide spectrum of mutations that are possible, resulting a span of different symptomology, but many who suffer from CTNNB1 Syndrome suffer from strabismus, dystonia, and physical and intellectual development issues, include speech and walking.

You can learn more about CTNNB1 Syndrome here.

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