Condition: Overfolding of the superior helices


rs1554333853 in CDK13 gene and Overfolding of the superior helices PMID 28807008 2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

rs1057519389 in EBF3 gene and Overfolding of the superior helices PMID 28017372 2017 A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.