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

New observation reported: In this study, we report a second case of 2q12.1q14.1 microdeletion, involving PAX8 as a gene associated with …

A source describes a new or expanded observation: “In this study, we report a second case of 2q12.1q14.1 microdeletion, involving PAX8 as a gene associated with Müllerian agenesis in a MRKH I and hypothyroidism.”

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 yesterday. Dedup key expansion:9c61f6. 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)

Mayer-Rokitansky-Künster-Hauser syndrome due to 2q12.1q14.1 deletion: PAX8 the causing gene? peer_reviewed · published 2020-04-01 · live page
In this study, we report a second case of 2q12.1q14.1 microdeletion, involving PAX8 as a gene associated with Müllerian agenesis in a MRKH I and hypothyroidism.

Supporting documents (1)

DocumentSourcePublishedSeenRelevance
Mayer-Rokitansky-Künster-Hauser syndrome due to 2q12.1q14.1 deletio... pubmed 2020-04-01 yesterday 1.00