Phenotype expansion
learning, speech and behaviour
1 supporting source
confidence 97%
novelty 90%
New observation reported: We report on a child with developmental delay, seizures, microcephaly, hypotonia, unusual stereotypical moveme…
A source describes a new or expanded observation: “We report on a child with developmental delay, seizures, microcephaly, hypotonia, unusual stereotypical movements, and changes in the white matter who inherited a 17q12 tandem duplication of ~1.4 Mb from his healthy father.”
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:c8e063.
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)
Expanding the phenotype associated with 17q12 duplication: case report and review of the literature.
peer_reviewed
· published 2013-02-01
· live page
We report on a child with developmental delay, seizures, microcephaly, hypotonia, unusual stereotypical movements, and changes in the white matter who inherited a 17q12 tandem duplication of ~1.4 Mb from his healthy father.
Supporting documents (1)
| Document | Source | Published | Seen | Relevance |
|---|---|---|---|---|
| Expanding the phenotype associated with 17q12 duplication: case rep... | pubmed | 2013-02-01 | yesterday | 1.00 |