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.