Phenotype expansion
Signs & symptoms
1 supporting source
confidence 97%
novelty 90%
New observation reported: We describe an additional patient with 2q12.1q14.1 microdeletion, showing MRKH and congenital hypothyroidism d…
A source describes a new or expanded observation: “We describe an additional patient with 2q12.1q14.1 microdeletion, showing MRKH and congenital hypothyroidism due to thyroid gland hypoplasia.”
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:663fd5.
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
We describe an additional patient with 2q12.1q14.1 microdeletion, showing MRKH and congenital hypothyroidism due to thyroid gland hypoplasia.
Supporting documents (1)
| Document | Source | Published | Seen | Relevance |
|---|---|---|---|---|
| Mayer-Rokitansky-Künster-Hauser syndrome due to 2q12.1q14.1 deletio... | pubmed | 2020-04-01 | yesterday | 1.00 |