monarch-initiative / phenopacket-store

Collections of GA4GH phenopackets that represent individuals with Mendelian diseases.
https://monarch-initiative.github.io/phenopacket-store/
BSD 3-Clause "New" or "Revised" License
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SON #9

Closed ldingemans closed 1 year ago

ldingemans commented 1 year ago

A number sign (#) is used with this entry because of evidence that ZTTK syndrome (ZTTKS) is caused by heterozygous mutation in the SON gene (182465) on chromosome 21q22.

No phenotypic subgroups are expected here - but we need examples for k = 1 as well I guess