Phenotype expansion
Signs & symptoms
1 supporting source
confidence 97%
novelty 90%
New observation reported: We describe the workup and follow-up of an infantile case of severe cholestasis in a patient with syndromic fe…
A source describes a new or expanded observation: “We describe the workup and follow-up of an infantile case of severe cholestasis in a patient with syndromic features (including hypopituitarism secondary to PSIS) and a final diagnosis of 17q12 deletion syndrome (including the HNF1β 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:44a5f7.
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)
Severe neonatal cholestasis in HNF1β deficiency: a case report and literature review
peer_reviewed
· published 2025-01-01
· live page
We describe the workup and follow-up of an infantile case of severe cholestasis in a patient with syndromic features (including hypopituitarism secondary to PSIS) and a final diagnosis of 17q12 deletion syndrome (including the HNF1β gene).
Supporting documents (1)
| Document | Source | Published | Seen | Relevance |
|---|---|---|---|---|
| Severe neonatal cholestasis in HNF1β deficiency: a case report and ... | pmc | 2025-01-01 | yesterday | 1.00 |