Condition: Frontal bossing


rs1060499548 in ABL1 gene and Frontal bossing PMID 28288113 2017 Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.

rs1562846694 in ACTL6B;TFR2 gene and Frontal bossing PMID 31134736 2019 Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.

rs779027563 in CNTNAP1 gene and Frontal bossing PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs1561892336 in CUL7;KLC4 gene and Frontal bossing PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

rs864309487 in GMNN gene and Frontal bossing PMID 26637980 2015 De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.

rs758865880 in KYNU gene and Frontal bossing PMID 28792876 2017 NAD Deficiency, Congenital Malformations, and Niacin Supplementation.

rs1559155954 in OBSL1 gene and Frontal bossing PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.