17q12, explained for kidsdeletion syndrome · static snapshot
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chromosome 17q12 deletion syndrome - National Organization for Rare Disorders

The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition.

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Indexed from **patient_org** on 2026-11-13 (relevance 1.00, tier community).

Generated 2026-11-13, last changed today. Dedup key newdoc:563. The engine re-checks this insight on every analysis run; if more sources agree, its corroboration and confidence go up and it reappears as “new”.

Evidence (1 quote)

chromosome 17q12 deletion syndrome - National Organization for Rare Disorders community · published 2025-05-01 · live page
Disease Overview 17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder.

Supporting documents (1)

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chromosome 17q12 deletion syndrome - National Organization for Rare... patient_org 2025-05-01 today 1.00