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: Abstract We report the case of a 60-year-old Japanese woman with genetically confirmed maturity-onset diabetes…

A source describes a new or expanded observation: “Abstract We report the case of a 60-year-old Japanese woman with genetically confirmed maturity-onset diabetes of the young type 5 [MODY5; HNF1B (hepatocyte nuclear factor 1B)-MODY] who developed amyotrophic lateral sclerosis (ALS), a progressive neurodegenerative disorder.”

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:b61059. 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
Abstract We report the case of a 60-year-old Japanese woman with genetically confirmed maturity-onset diabetes of the young type 5 [MODY5; HNF1B (hepatocyte nuclear factor 1B)-MODY] who developed amyotrophic lateral sclerosis (ALS), a progressive neurodegenerative disorder.

Supporting documents (1)

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