17q12 Knowledge Basedeletion syndrome · static snapshot
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Phenotype expansion learning, speech and behaviour 1 supporting source confidence 97% novelty 90%

New observation reported: To our knowledge, this is the first report of a patient with the 17q12 microduplication and a complex ASD phen…

A source describes a new or expanded observation: “To our knowledge, this is the first report of a patient with the 17q12 microduplication and a complex ASD phenotype.”

More phenotype expansion

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:a07610. 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)

Complex autism spectrum disorder in a patient with a 17q12 microduplication. peer_reviewed · published 2012-05-01 · live page
To our knowledge, this is the first report of a patient with the 17q12 microduplication and a complex ASD phenotype.

Supporting documents (1)

ArticleSourcePublishedSeenRelevance
Complex autism spectrum disorder in a patient with a 17q12 microdup... pubmed 2012-05-01 yesterday 1.00