Phenotype expansion
learning, speech and behaviour
1 supporting source
confidence 97%
novelty 90%
New observation reported: Here we report a patient with a de novo, 1.4 Mb microduplication diagnosed with significant ID involving compl…
A source describes a new or expanded observation: “Here we report a patient with a de novo, 1.4 Mb microduplication diagnosed with significant ID involving complex deficits and autism.”
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:49c6ec.
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)
Complex autism spectrum disorder in a patient with a 17q12 microduplication.
peer_reviewed
· published 2012-05-01
· live page
Here we report a patient with a de novo, 1.4 Mb microduplication diagnosed with significant ID involving complex deficits and autism.
Supporting documents (1)
| Article | Source | Published | Seen | Relevance |
|---|---|---|---|---|
| Complex autism spectrum disorder in a patient with a 17q12 microdup... | pubmed | 2012-05-01 | yesterday | 1.00 |