17q12 Knowledge Basedeletion syndrome · static snapshot
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Frequency / statistic kidney and urinary tract 1 supporting source confidence 97% novelty 60%

Of those 5 individuals with scores above the optimal cutoff without a diagnosis of T1D, there was one individual with CF

A source reports “5 individuals” in the context of diabetes metabolic: “Of those 5 individuals with scores above the optimal cutoff without a diagnosis of T1D, there was one individual with CFRD, two individuals with T2D, one individual with SIH, and one individual with diabetes in association with mitochondrial encephalomyopathy,”

How this was derived

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

Generated 2026-11-13, last changed yesterday. Dedup key freq:5 individuals. 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)

Of those 5 individuals with scores above the optimal cutoff without a diagnosis of T1D, there was one individual with CFRD, two individuals with T2D, one individual with SIH, and one individual with diabetes in association with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS).

Supporting documents (1)

DocumentSourcePublishedSeenRelevance
Type 1 Diabetes Polygenic Scores Improve Diagnostic Accuracy in Ped... pmc 2025-01-01 yesterday 1.00