Inés (Spain)

Age: 8

Spain

What is SETBP1?

SETBP1 haploinsufficiency disorder is a very rare disorder that is the result of a loss-of-function of one copy of the SETBP1 gene and causes a spectrum of symptoms ranging from absent speech to expressive language delays, mild-severe intellectual disability, autistic-traits or autism, developmental delays and ADHD.

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SETBP1 Haploinsufficiency Disorder guide >

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© SETBP1 Society - P.O. Box 301584 Austin, TX 78703 - 512-522-8072 - SETBP1 Society is a not-for-profit 501(c)(3) organization. Our federal tax ID number is 82-0891558.
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