17q12 Knowledge Basedeletion syndrome · static snapshot
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Frequency / statistic Research frontier 1 supporting source confidence 97% novelty 60%

Among the 11 reported features, abnormalities in the external ear and thin upper lip vermilion occurred with a frequency

A source reports “40%” in the context of general: “Among the 11 reported features, abnormalities in the external ear and thin upper lip vermilion occurred with a frequency exceeding 40% [ 16 ].”

How this was derived

Numbers are quoted verbatim from the source; check the source before quoting onward.

Generated 2026-11-13, last changed today. Dedup key freq:40%. 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 (3 quotes)

17q12 Recurrent Deletion Syndrome in Childhood peer_reviewed · published 2025-01-01 · live page
In the Danish cohort, diabetes was observed in about 40%, often with onset in adolescence or early adulthood.
On the other hand, patients with HNF1B mutations often exhibit prevalent liver enzyme dysfunction, particularly in association with MODY5, affecting around 40% of adults [ 13 ].
Among the 11 reported features, abnormalities in the external ear and thin upper lip vermilion occurred with a frequency exceeding 40% [ 16 ].

Supporting documents (3)

DocumentSourcePublishedSeenRelevance
17q12 Recurrent Deletion Syndrome in Childhood pmc 2025-01-01 yesterday 1.00
A Korean Family Presenting with Renal Cysts and Maturity-Onset Diab... pmc 2024-01-01 yesterday 1.00
Identification and functional analysis of a novel SMARCC2 splicing ... pmc 2025-01-01 yesterday 1.00