Robuta

https://pubmed.ncbi.nlm.nih.gov/30291340/
Deletions on chromosome 15q14 are a known chromosomal cause of cleft palate, typically co-occurring with intellectual disability, facial dysmorphism, and...
loss of functionheterozygousvariantscausetriad
https://www.wikidata.org/wiki/Q71422311
scientific article published on March 13, 1970
bone marrow cellsbeta thalassemiaheterozygousbalancedglobin
https://www.jci.org/articles/view/114770/scanned-page/742
lipoprotein lipase deficiencyjciphenotypicexpressionheterozygous