Phenotype expansion
Signs & symptoms
1 supporting source
confidence 97%
novelty 90%
New observation reported: Including the newly described cardiac malformations, we demonstrate that PIGW disruption may affect the develo…
A source describes a new or expanded observation: “Including the newly described cardiac malformations, we demonstrate that PIGW disruption may affect the development of almost all major human systems, especially the brain, cerebellum, kidneys and genitourinary system, gastrointestinal system, skeleton, diaphragm and abdominal wall.”
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:8b2d2f.
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
Including the newly described cardiac malformations, we demonstrate that PIGW disruption may affect the development of almost all major human systems, especially the brain, cerebellum, kidneys and genitourinary system, gastrointestinal system, skeleton, diaphragm and abdominal wall.
Supporting documents (1)
| Document | Source | Published | Seen | Relevance |
|---|---|---|---|---|
| In-Depth Phenotyping of PIGW -Related Disease and Its Role in 17q12... | pmc | 2024-01-01 | yesterday | 1.00 |