Condition: Congenital Epicanthus
rs1057516044 in
ABCC9 gene and
Congenital Epicanthus
PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
rs387907144 in
ARID1B gene and
Congenital Epicanthus
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.
rs1554333853 in
CDK13 gene and
Congenital Epicanthus
PMID 28807008 2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.
rs1064794254 in
UPF3B gene and
Congenital Epicanthus
PMID 19238151 2010 Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism.
PMID 22609145 2012 Broadening the phenotype associated with mutations in UPF3B: two further cases with renal dysplasia and variable developmental delay.
PMID 17704778 2007 Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation.