17q12, explained for kidsdeletion syndrome · static snapshot
Adults Scientists Kids EN NL
Everything here was found on the internet and put together with help from a computer program that reads and writes (AI). It is here so you can learn — it is not the final word. Always check the real source. Read the whole notice
Something new reported Learning, talking and behaviour 1 supporting source confidence 97% novelty 90%

Someone reported something new: P2 was the first reported patient with a PIGW frameshift variant in trans with a missense one, with severe neu…

A source describes a new or expanded observation: “P2 was the first reported patient with a PIGW frameshift variant in trans with a missense one, with severe neurologic presentation, epilepsy and bilateral hydronephrosis.”

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:4eb6ac. 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
P2 was the first reported patient with a PIGW frameshift variant in trans with a missense one, with severe neurologic presentation, epilepsy and bilateral hydronephrosis.

Supporting documents (1)

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