Phenotype expansion
learning, speech and behaviour
1 supporting source
confidence 97%
novelty 90%
New observation reported: P2 was the first reported patient with a PIGW frameshift variant in trans with a missense one, with severe neu…
A source describes a new or expanded observation: “P2 was the first reported patient with a PIGW frameshift variant in trans with a missense one, with severe neurologic presentation, epilepsy and bilateral hydronephrosis.”
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:4eb6ac.
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
P2 was the first reported patient with a PIGW frameshift variant in trans with a missense one, with severe neurologic presentation, epilepsy and bilateral hydronephrosis.
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 |