Phenotype expansion
kidney and urinary tract
1 supporting source
confidence 97%
novelty 90%
New observation reported: Here, we report a patient presenting with MODY5 diabetes who was eventually diagnosed with 17q12 deletion synd…
A source describes a new or expanded observation: “Here, we report a patient presenting with MODY5 diabetes who was eventually diagnosed with 17q12 deletion syndrome identified by microarray analysis.”
How this was derived
Flagged by novelty language (“for the first time”, “expands the phenotype”, …) in pubmed.
Generated 2026-11-13, last changed
today. Dedup key expansion:fdac43.
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 (2 quotes)
HNF1B-MODY (MODY-5): a rare form of diabetes with multisystemic features-two case reports.
peer_reviewed
· published 2026-01-01
· live page
Here, we report a patient presenting with MODY5 diabetes who was eventually diagnosed with 17q12 deletion syndrome identified by microarray analysis.
A Case of Diabetes Mellitus Type MODY5 as a Feature of 17q12 Deletion Syndrome
peer_reviewed
· published 2024-01-01
· live page
Here, we report a patient presenting with MODY5 diabetes who was eventually diagnosed with 17q12 deletion syndrome identified by microarray analysis.
Supporting documents (2)
| Document | Source | Published | Seen | Relevance |
|---|---|---|---|---|
| A Case of Diabetes Mellitus Type MODY5 as a Feature of 17q12 Deleti... | pmc | 2024-01-01 | yesterday | 1.00 |
| HNF1B-MODY (MODY-5): a rare form of diabetes with multisystemic fea... | pubmed | 2026-01-01 | yesterday | 1.00 |