Condition: Triangular face


rs1561873941 in CUL7 gene and Triangular face PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

rs1561875767 in CUL7;KLC4 gene and Triangular face PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

rs1057519389 in EBF3 gene and Triangular face PMID 28017372 2017 A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.

rs1559155800 in OBSL1 gene and Triangular face PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.