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.