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.