Phenotype expansion
kidney and urinary tract
1 supporting source
confidence 97%
novelty 90%
New observation reported: In this case report, we describe the clinical manifestations and therapeutic approach for a patient with MODY5…
A source describes a new or expanded observation: “In this case report, we describe the clinical manifestations and therapeutic approach for a patient with MODY5 diabetes exhibiting liver impairment and polycystic kidneys due to the 17q12 microdeletion syndrome.”
How this was derived
Flagged by novelty language (“for the first time”, “expands the phenotype”, …) in pmc.
Generated 2026-11-13, last changed
today. Dedup key expansion:b07b6c.
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)
A Case of 17q12 Microdeletion Syndrome in a MODY5 Type Diabetes with HNF-1β Gene Mutation Accompanied
peer_reviewed
· published 2024-01-01
· live page
In this case report, we describe the clinical manifestations and therapeutic approach for a patient with MODY5 diabetes exhibiting liver impairment and polycystic kidneys due to the 17q12 microdeletion syndrome.
Supporting documents (1)
| Article | Source | Published | Seen | Relevance |
|---|---|---|---|---|
| A Case of 17q12 Microdeletion Syndrome in a MODY5 Type Diabetes wit... | pmc | 2024-01-01 | yesterday | 1.00 |