17q12, explained for kidsdeletion syndrome · static snapshot
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Something new reported Learning, talking and behaviour 1 supporting source confidence 97% novelty 90%

Someone reported something new: Finally, we described P2, a girl with severe neurological presentation, developmental regression, and early-on…

A source describes a new or expanded observation: “Finally, we described P2, a girl with severe neurological presentation, developmental regression, and early-onset, progressive, uncontrollable epilepsy.”

More something new reported

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:02953a. 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)

In-Depth Phenotyping of PIGW -Related Disease and Its Role in 17q12 Genomic Disorder peer_reviewed · published 2024-01-01 · live page
Finally, we described P2, a girl with severe neurological presentation, developmental regression, and early-onset, progressive, uncontrollable epilepsy.

Supporting documents (1)

StorySourcePublishedSeenRelevance
In-Depth Phenotyping of PIGW -Related Disease and Its Role in 17q12... pmc 2024-01-01 yesterday 1.00