Condition: Posteriorly rotated ear
rs1555743003
in
ASXL3
gene and
Posteriorly rotated ear
PMID 27075689
2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
rs180177035
in
BRAF
gene and
Posteriorly rotated ear
PMID 16439621
2006 Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.
PMID 16474404
2006 Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.
rs1034395178
in
LZTR1
gene and
Posteriorly rotated ear
PMID 29469822
2018 Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.
rs1334099693
in
SOX4
gene and
Posteriorly rotated ear
PMID 30661772
2019 De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.