The second variant, c.2287G>A, in cis with the c.565C>T, causes the missense substitution p.Ala763Thr and is classified in ClinVar database as VUS; however, it is already described in compound heterozygosity with a truncating variant in MUSK gene in two siblings with neonatal respiratory failure secondary to isolated vocal cord paralysis (requiring tracheostomy in one of them), failure to thrive and feeding intolerance [49]. This evidence concerns the gene MUSK and Vocal cord paralysis.