Phenotype expansion
learning, speech and behaviour
1 supporting source
confidence 97%
novelty 90%
New observation reported: Finally, we described P2, a girl with severe neurological presentation, developmental regression, and early-on…
A source describes a new or expanded observation: “Finally, we described P2, a girl with severe neurological presentation, developmental regression, and early-onset, progressive, uncontrollable epilepsy.”
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:02953a.
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-Depth Phenotyping of PIGW -Related Disease and Its Role in 17q12 Genomic Disorder
peer_reviewed
· published 2024-01-01
· live page
Finally, we described P2, a girl with severe neurological presentation, developmental regression, and early-onset, progressive, uncontrollable epilepsy.
Supporting documents (1)
| Article | Source | Published | Seen | Relevance |
|---|---|---|---|---|
| In-Depth Phenotyping of PIGW -Related Disease and Its Role in 17q12... | pmc | 2024-01-01 | yesterday | 1.00 |