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monarch-initiative / gpsea

A Python library for discovery of genotype-phenotype associations
https://monarch-initiative.github.io/gpsea/stable
MIT License
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Sex-specific difference in phenotype of Kabuki syndrome type 2 patients: #276

Closed pnrobinson closed 1 week ago

pnrobinson commented 1 month ago

[KMT2D](https://omim.org/entry/602113)

This was a small study. Test this with our relatively large cohort

pnrobinson commented 1 month ago

Males were significantly more likely to be born prematurely, have shorter stature, and severe developmental delay/ID. https://pubmed.ncbi.nlm.nih.gov/33674768/

-- this gene would be a good test case.

pnrobinson commented 1 week ago

There was a difference in Severe global delay that failed to achieve statistical significance, but the software appears to be working. We will want to use the software for all cohorts in the final analysis.