Phenotype expansion
learning, speech and behaviour
1 supporting source
confidence 97%
novelty 90%
New observation reported: Altogether, these findings indicate that CAKUT, congenital heart disease, ID, and autism spectrum disorder sha…
A source describes a new or expanded observation: “Altogether, these findings indicate that CAKUT, congenital heart disease, ID, and autism spectrum disorder share underlying genetic mechanisms and pathways and point to the potential for phenotypic expansion for known and yet-to-be-identified developmental disorders.”
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:161d73.
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)
Exome analysis links kidney malformations to developmental disorders and reveals causal genes
peer_reviewed
· published 2025-01-01
· live page
Altogether, these findings indicate that CAKUT, congenital heart disease, ID, and autism spectrum disorder share underlying genetic mechanisms and pathways and point to the potential for phenotypic expansion for known and yet-to-be-identified developmental disorders.
Supporting documents (1)
| Article | Source | Published | Seen | Relevance |
|---|---|---|---|---|
| Exome analysis links kidney malformations to developmental disorder... | pmc | 2025-01-01 | yesterday | 1.00 |