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: In this study, we reported an extremely rare case presenting with MRKH syndrome, inguinal hernia, left renal f…

A source describes a new or expanded observation: “In this study, we reported an extremely rare case presenting with MRKH syndrome, inguinal hernia, left renal fusion, and malrotation.”

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:56df9f. 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)

In this study, we reported an extremely rare case presenting with MRKH syndrome, inguinal hernia, left renal fusion, and malrotation.

Supporting documents (1)

DocumentSourcePublishedSeenRelevance
Mayer–Rokitansky–Küster–Hauser syndrome with inguinal hernia, left ... pmc 2025-01-01 yesterday 1.00