rs1561875767 in
CUL7;KLC4 gene and
Pointed chin
PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.
rs587777893 in
MTOR gene and
Pointed chin
PMID 27159400 2016 Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.
rs1057516048 in
NSD1 gene and
Pointed chin
PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
rs1559155954 in
OBSL1 gene and
Pointed chin
PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.