Condition: Short philtrum


rs1555743003 in ASXL3 gene and Short philtrum PMID 27075689 2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.

rs779027563 in CNTNAP1 gene and Short philtrum PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs1034395178 in LZTR1 gene and Short philtrum PMID 29469822 2018 Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.

rs587779351 in XRCC4 gene and Short philtrum PMID 24389050 2014 Genomic analysis of primordial dwarfism reveals novel disease genes.