rs1060499548 in
ABL1 gene and
Microstomia
PMID 28288113 2017 Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.
rs1554333853 in
CDK13 gene and
Microstomia
PMID 28807008 2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.
rs864309487 in
GMNN gene and
Microstomia
PMID 26637980 2015 De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.