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 Report: We report the case of a 28-year-old woman evaluated for chronic kidney disease of unknown aetiolo…

A source describes a new or expanded observation: “Case Report: We report the case of a 28-year-old woman evaluated for chronic kidney disease of unknown aetiology who presented with atypical radiological findings.”

More phenotype expansion

How this was derived

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

Generated 2026-11-13, last changed yesterday. Dedup key expansion:47e307. 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)

Atypical Renal Hypoplasia in HNF1B-Related Disease: The Clinical Impact of Early Genetic Diagnosis peer_reviewed · published 2026-09-28 · live page
Case Report: We report the case of a 28-year-old woman evaluated for chronic kidney disease of unknown aetiology who presented with atypical radiological findings.

Supporting documents (1)

DocumentSourcePublishedSeenRelevance
Atypical Renal Hypoplasia in HNF1B-Related Disease: The Clinical Im... openalex 2026-09-28 yesterday 1.00