Condition: Low-set, posteriorly rotated ears


rs387907144 in ARID1B gene and Low-set, posteriorly rotated ears PMID 26350204 2015 Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.

PMID 22426309 2012 Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.

rs1555743003 in ASXL3 gene and Low-set, posteriorly rotated ears PMID 27075689 2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.

rs1563686762 in RAD21;UTP23 gene and Low-set, posteriorly rotated ears PMID 30125677 2019 A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.