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.