rs1561873941 in
CUL7 gene and
Short neck
PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.
rs1561881909 in
CUL7;KLC4 gene and
Short neck
PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.
rs1064795104 in
EXOC6B gene and
Short neck
PMID 23422942 2013 Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation.
PMID 25256811 2014 Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability.
rs1135401744 in
KYNU gene and
Short neck
PMID 28792876 2017 NAD Deficiency, Congenital Malformations, and Niacin Supplementation.
rs760929207 in
OBSL1 gene and
Short neck
PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.