17q12 Knowledge Basedeletion syndrome · static snapshot
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Frequency / statistic learning, speech and behaviour 1 supporting source confidence 97% novelty 60%

Analysis of de novo mutations in severe developmental disorders (DDs) has discovered 285 genes at exome-wide significanc

A source reports “5%” in the context of neurodevelopment: “Analysis of de novo mutations in severe developmental disorders (DDs) has discovered 285 genes at exome-wide significance, 37 and rare variant associations in autism spectrum disorder (ASD) 22 and schizophrenia (SCZ) 38 have implicated 185 and 32 genes at a fa”

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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:5%. 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)

Atypical presentation of HNF1β gene mutation mimicking type 2 diabetes: Case report and literature review peer_reviewed · published 2025-01-01 · live page
MODY5 has a low incidence; HNF1β mutations account for approximately 5% of all MODY cases.
HNF1B-MODY (MODY-5): a rare form of diabetes with multisystemic features–two case reports peer_reviewed · published 2026-06-11 · live page
MODY-5, caused by HNF1B gene mutations, accounts for <5% of MODY cases and often presents with renal abnormalities and genitourinary malformations.
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes peer_reviewed · published 2024-01-01 · live page
Analysis of de novo mutations in severe developmental disorders (DDs) has discovered 285 genes at exome-wide significance, 37 and rare variant associations in autism spectrum disorder (ASD) 22 and schizophrenia (SCZ) 38 have implicated 185 and 32 genes at a false discovery rate of 5%, respectively.

Supporting documents (3)

ArticleSourcePublishedSeenRelevance
Atypical presentation of HNF1β gene mutation mimicking type 2 diabe... pmc 2025-01-01 yesterday 1.00
HNF1B-MODY (MODY-5): a rare form of diabetes with multisystemic fea... openalex 2026-06-11 yesterday 1.00
Exome sequencing of 20,979 individuals with epilepsy reveals shared... pmc 2024-01-01 yesterday 1.00