Condition: Severe muscular hypotonia


rs1561498701 in SMN1;SMN2 gene and Severe muscular hypotonia PMID 24498607 2013 A homozygous double mutation in SMN1: a complicated genetic diagnosis of SMA.

rs1114167445 in SPTBN4 gene and Severe muscular hypotonia PMID 28540413 2017 A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness.