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Chromosome 17p13.1 deletion syndrome

MONDO:0013415

Also known as: chromosome 17p13.1 deletion syndrome, 17p13.1 deletion syndrome

1 clinical trial for this condition and its sub-types.

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Sub-types

Distal 17p13.1 microdeletion syndrome (0)

Broader categories

Disease (680) Human disease (14) Chromosomal disorder (12) Chromosome 17p deletion (5) Disease of genetic or genomic mechanism (2) Autosomal anomaly (0) Chromosome 17 disorder (0) Disease by etiologic mechanism (0) Partial deletion of chromosome 17 (0) Syndrome caused by partial chromosomal deletion (0)
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  • New program aims to ease burden on families of kids with rare diseases

    Symptom relief ENROLLING_BY_INVITATION

    This study tests a program called FACE-Rare, designed to support family caregivers of children with rare, life-limiting diseases. The program includes three sessions to help families prepare for future medical decisions and improve their quality of life. Researchers will compare …

    Phase: NA • Sponsor: Children's National Research Institute • Aim: Symptom relief

    Last updated Jun 27, 2026 09:00 UTC

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