Condition: Neonatal Hypotonia


rs587779766 in AHDC1 gene and Neonatal Hypotonia PMID 24791903 2014 De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea.

rs779027563 in CNTNAP1 gene and Neonatal Hypotonia PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs121908557 in SCN4A;LOC105371858 gene and Neonatal Hypotonia 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.