New publication
What it is
1 supporting source
confidence 80%
novelty 75%
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.
How this was derived
Indexed from **patient_org** on 2026-11-13 (relevance 1.00, tier community).
Generated 2026-11-13, last changed
today. Dedup key newdoc:563.
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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)
| Document | Source | Published | Seen | Relevance |
|---|---|---|---|---|
| chromosome 17q12 deletion syndrome - National Organization for Rare... | patient_org | 2025-05-01 | today | 1.00 |