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.