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.