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: Case presentation We report a 62-year-old male referred to the Undiagnosed Diseases Program (UDP) at the Natio…

A source describes a new or expanded observation: “Case presentation We report a 62-year-old male referred to the Undiagnosed Diseases Program (UDP) at the National Institutes of Health (NIH) who presented with persistent hypermagnesiuric hypomagnesemia and was found to have a 17q12 deletion.”

More phenotype expansion

How this was derived

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

Generated 2026-11-14, last changed today. Dedup key expansion:3c12cf. 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)

The Clinical Characteristics and Gene Mutations of Maturity-Onset Diabetes of the Young Type 5 in Sixty-One Patients. peer_reviewed · published 2022-01-01 · live page
Case presentation We report a 62-year-old male referred to the Undiagnosed Diseases Program (UDP) at the National Institutes of Health (NIH) who presented with persistent hypermagnesiuric hypomagnesemia and was found to have a 17q12 deletion.

Supporting documents (1)

DocumentSourcePublishedSeenRelevance
The Clinical Characteristics and Gene Mutations of Maturity-Onset D... pubmed 2022-01-01 yesterday 1.00