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.