Phenotype expansion
learning, speech and behaviour
1 supporting source
confidence 97%
novelty 90%
New observation reported: In this report, we describe a boy with a deletion in 17q12 region detected by SNP array, encompassing the HNF1…
A source describes a new or expanded observation: “In this report, we describe a boy with a deletion in 17q12 region detected by SNP array, encompassing the HNF1B gene, that showed dysmorphic features, intellectual disability (ID), serious speech delay and autistic features.”
How this was derived
Flagged by novelty language (“for the first time”, “expands the phenotype”, …) in pubmed.
Generated 2026-11-13, last changed
yesterday. Dedup key expansion:dd6cc7.
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)
Variable phenotype in 17q12 microdeletions: clinical and molecular characterization of a new case.
peer_reviewed
· published 2014-04-01
· live page
In this report, we describe a boy with a deletion in 17q12 region detected by SNP array, encompassing the HNF1B gene, that showed dysmorphic features, intellectual disability (ID), serious speech delay and autistic features.
Supporting documents (1)
| Document | Source | Published | Seen | Relevance |
|---|---|---|---|---|
| Variable phenotype in 17q12 microdeletions: clinical and molecular ... | pubmed | 2014-04-01 | yesterday | 1.00 |