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.