Condition: Prominent nasal bridge


rs1555743003 in ASXL3 gene and Prominent nasal bridge PMID 27075689 2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.

rs1554333853 in CDK13 gene and Prominent nasal bridge PMID 28807008 2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

rs369634007 in TMEM87B gene and Prominent nasal bridge PMID 27148590 2016 Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy.