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: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions…

A source describes a new or expanded observation: “We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions.”

More phenotype expansion

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:17dadb. 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)

HNF1B-MODY (MODY-5): a rare form of diabetes with multisystemic features-two case reports. peer_reviewed · published 2026-01-01 · live page
We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions.

Supporting documents (1)

ArticleSourcePublishedSeenRelevance
HNF1B-MODY (MODY-5): a rare form of diabetes with multisystemic fea... pubmed 2026-01-01 yesterday 1.00