Condition: Deglutition Disorders


rs779027563 in CNTNAP1 gene and Deglutition Disorders PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs1057519389 in EBF3 gene and Deglutition Disorders PMID 28017372 2017 A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.

rs151344517 in LOC107985154;AFG3L2;TUBB6 gene and Deglutition Disorders PMID 20725928 2010 Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.

rs63750687 in PSEN1 gene and Deglutition Disorders PMID 24121961 2014 A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease.

rs121908557 in SCN4A;LOC105371858 gene and Deglutition Disorders PMID 15596759 2004 New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis.

PMID 19065518 2008 [The construction and preliminary investigation of the cell model of a novel mutation R675Q in the SCN4A gene identified in a Chinese family with normokalemic periodic paralysis].

rs1334099693 in SOX4 gene and Deglutition Disorders PMID 30661772 2019 De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.