17q12 Knowledge Basedeletion syndrome · static snapshot
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Phenotype expansion kidney and urinary tract 1 supporting source confidence 97% novelty 90%

New observation reported: Here, we report the case of a patient with genetically confirmed HNF1B-MODY who was later diagnosed with ALS…

A source describes a new or expanded observation: “Here, we report the case of a patient with genetically confirmed HNF1B-MODY who was later diagnosed with ALS.”

More phenotype expansion

How this was derived

Flagged by novelty language (“for the first time”, “expands the phenotype”, …) in pmc.

Generated 2026-11-13, last changed yesterday. Dedup key expansion:962036. 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 Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5 peer_reviewed · published 2025-01-01 · live page
Here, we report the case of a patient with genetically confirmed HNF1B-MODY who was later diagnosed with ALS.

Supporting documents (1)

ArticleSourcePublishedSeenRelevance
A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-on... pmc 2025-01-01 yesterday 1.00