Condition: Hypoplasia of mandibular condyle
rs121908557
in
SCN4A;LOC105371858
gene and
Hypoplasia of mandibular condyle
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].
PMID 15596759
2004 New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis.