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SETBP1 Society
  • About Us
    • Faces of SETBP1
    • Our Mission
    • Board of Directors
    • Medical & Scientific Advisory Board
    • Volunteers
    • Partners
  • For Families
    • Newly Diagnosed
    • SETBP1 Society Contact Registry
    • Natural History Studies
    • Understanding SETBP1 Science
    • Common Questions
    • SETBP1 Community Map
    • Doctors Studying SETBP1-HD
    • Simons Searchlight SETBP1 Registry
    • State Waivers
    • Get Involved
  • Resources
    • Newsletters
    • Videos
  • Research
    • What is SETBP1?
    • Funded Research
    • Simons Searchlight
    • SETBP1 Data Collection Program
    • Speech Tracker Study
    • SETBP1 Community Research Study (SCoReS)
    • SETBP1 Dashboard
    • Publications
  • Get Involved
    • Events
    • In the News
  • Store
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by haley / On September 22, 2022

Article By haley

Author archive

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.

Read more >
SETBP1 Haploinsufficiency Disorder guide >

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