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17q12 Patient Registry

The 17q12 Foundation, in partnership with the National Organization for Rare Disorders (NORD), launched a study with global reach to research chromosome 17q12 deletion syndrome and chromosome 17q12 duplication syndrome.

The 17q12 Foundation invites the 17q12 community to participate in the 17q12 Patient Registry, a free platform for patients worldwide to share information about chromosome 17q12 syndromes. Its purpose is to build an international resource to be used by scientists in future research.

The 17q12 Patient Registry is a natural history study that consists of electronic surveys to collect information about the patient experience and syndrome progression. Patients, or their caregivers or guardians, can enter information from anywhere in the world. The data is confidential and stored securely in NORD’s IAMRARE online portal. The 17q12 Foundation may share the data with individuals or institutions conducting research or clinical trials, as approved by the study’s governing board which consists of scientists, doctors, and patient advocates. Interested participants can learn more and enroll at

Tell your story through the 17q12 Patient Registry and help our community fly!.png
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