17q12 Knowledge Basedeletion syndrome · static snapshot
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Phenotype expansion Signs & symptoms 1 supporting source confidence 97% novelty 90%

New observation reported: We report the case of a 20-year-old woman with a notable family history of MM (mother and grandmother with a l…

A source describes a new or expanded observation: “We report the case of a 20-year-old woman with a notable family history of MM (mother and grandmother with a longitudinal vaginal septum and aunt with a bicornuate uterus) who presented with difficulty inserting tampons and menstrual cups.”

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:91203f. 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)

We report the case of a 20-year-old woman with a notable family history of MM (mother and grandmother with a longitudinal vaginal septum and aunt with a bicornuate uterus) who presented with difficulty inserting tampons and menstrual cups.

Supporting documents (1)

ArticleSourcePublishedSeenRelevance
Genetic Predisposition in Müllerian Malformations: A Case Report pmc 2025-01-01 yesterday 1.00