Condition: Downward slant of palpebral fissure


rs387907144 in ARID1B gene and Downward slant of palpebral fissure PMID 26350204 2015 Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.

PMID 22426309 2012 Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.

rs180177035 in BRAF gene and Downward slant of palpebral fissure PMID 16439621 2006 Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.

PMID 16474404 2006 Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.

rs779027563 in CNTNAP1 gene and Downward slant of palpebral fissure PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs864309486 in GMNN gene and Downward slant of palpebral fissure PMID 26637980 2015 De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.

rs121918455 in PTPN11 gene and Downward slant of palpebral fissure PMID 11992261 2002 PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.

PMID 19077116 2009 Genotype differences in cognitive functioning in Noonan syndrome.

PMID 16124853 2005 Noonan syndrome and related disorders: genetics and pathogenesis.

PMID 12960218 2003 Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes.

rs80338796 in RAF1 gene and Downward slant of palpebral fissure PMID 17603482 2007 Germline gain-of-function mutations in RAF1 cause Noonan syndrome.

PMID 17603483 2007 Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.

rs1567368243 in SIN3A gene and Downward slant of palpebral fissure PMID 30267900 2019 Novel SIN3A mutation identified in a Japanese patient with Witteveen-Kolk syndrome.