Phenotype expansion
learning, speech and behaviour
1 supporting source
confidence 97%
novelty 90%
New observation reported: Novel or rarely reported neuroradiological findings were associated with the following genes: Pontocerebellar …
A source describes a new or expanded observation: “Novel or rarely reported neuroradiological findings were associated with the following genes: Pontocerebellar hypoplasia ( ACTB ), progressive cerebellar atrophy without hypoplasia of pons and vermis ( CYB5R3 ), cerebellar atrophy ( MTM1 ), progressive cerebellar atrophy accompanied with delayed mye”
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:6e2b94.
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)
Phenotypic Heterogeneity in Genetic and Acquired Pediatric Cerebellar Disorders
peer_reviewed
· published 2025-01-01
· live page
Novel or rarely reported neuroradiological findings were associated with the following genes: Pontocerebellar hypoplasia ( ACTB ), progressive cerebellar atrophy without hypoplasia of pons and vermis ( CYB5R3 ), cerebellar atrophy ( MTM1 ), progressive cerebellar atrophy accompanied with delayed myelination within the centrum semiovale and corona radiata ( SPAST ).
Supporting documents (1)
| Document | Source | Published | Seen | Relevance |
|---|---|---|---|---|
| Phenotypic Heterogeneity in Genetic and Acquired Pediatric Cerebell... | pmc | 2025-01-01 | yesterday | 1.00 |