Condition: Absent reflex
rs796051877
in
GAA
gene and
Absent reflex
PMID 26160551
2015 c.1437G>A intron 9 substitution on acid α-glucosidase gene associated with classic infantile-onset Pompe disease phenotype.
rs1561498701
in
SMN1;SMN2
gene and
Absent reflex
PMID 24498607
2013 A homozygous double mutation in SMN1: a complicated genetic diagnosis of SMA.
rs1114167445
in
SPTBN4
gene and
Absent reflex
PMID 28540413
2017 A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness.