Condition: Decreased nerve conduction velocity
rs779027563
in
CNTNAP1
gene and
Decreased nerve conduction velocity
PMID 27668699
2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.
rs1114167445
in
SPTBN4
gene and
Decreased nerve conduction velocity
PMID 28540413
2017 A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness.