Phenotype expansion
learning, speech and behaviour
1 supporting source
confidence 97%
novelty 90%
New observation reported: Another case of compound heterozygosity was described in a study conducted by Malerba et al.; they report a no…
A source describes a new or expanded observation: “Another case of compound heterozygosity was described in a study conducted by Malerba et al.; they report a novel case of a 2.5-year-old female with ASD who is a compound heterozygote for a paternally inherited frameshift and a maternally inherited missense variant in the GNB5 gene.”
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:a6678c.
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)
Autism Spectrum Disorder: Genetic Mechanisms and Inheritance Patterns
peer_reviewed
· published 2025-01-01
· live page
Another case of compound heterozygosity was described in a study conducted by Malerba et al.; they report a novel case of a 2.5-year-old female with ASD who is a compound heterozygote for a paternally inherited frameshift and a maternally inherited missense variant in the GNB5 gene.
Supporting documents (1)
| Document | Source | Published | Seen | Relevance |
|---|---|---|---|---|
| Autism Spectrum Disorder: Genetic Mechanisms and Inheritance Patterns | pmc | 2025-01-01 | yesterday | 1.00 |