Condition: Orbital separation excessive


rs180177035 in BRAF gene and Orbital separation excessive PMID 16474404 2006 Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.

PMID 16439621 2006 Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.

rs1554333853 in CDK13 gene and Orbital separation excessive PMID 28807008 2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

rs779027563 in CNTNAP1 gene and Orbital separation excessive PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs797045141 in HERC1 gene and Orbital separation excessive PMID 27108999 2016 A splice site mutation in HERC1 leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrum.

rs1034395178 in LZTR1 gene and Orbital separation excessive PMID 29469822 2018 Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.

rs1057519942 in PIK3CA gene and Orbital separation excessive PMID 31568861 2019 Novel features of PIK3CA-Related Overgrowth Spectrum: Lesson from an aborted fetus presenting a de novo constitutional PIK3CA mutation.

rs28933386 in PTPN11 gene and Orbital separation excessive PMID 11704759 2001 Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.

PMID 16358218 2006 Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.

PMID 16733669 2006 "PTPN11 gene mutations: linking the Gln510Glu mutation to the ""LEOPARD syndrome phenotype""."

PMID 15889278 2005 A novel mutation in the PTPN11 gene in a patient with Noonan syndrome and rapidly progressive hypertrophic cardiomyopathy.

rs1553630457 in TGFBR2 gene and Orbital separation excessive PMID 28344185 2017 Arthrogryposis as neonatal presentation of Loeys-Dietz syndrome due to a novel TGFBR2 mutation.

rs369634007 in TMEM87B gene and Orbital separation excessive PMID 27148590 2016 Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy.