Patient 6193 was admitted for respiratory failure and rWGS revealed a de novo, likely pathogenic variant in NALCN (OMIM#616266; Congenital contractures of the limbs and face, hypotonia, and developmental delay), which resulted in a palliative care consult and facilitated the transition to home non-invasive positive pressure ventilation (NPPV), as opposed to ongoing hospitalization while awaiting symptom resolution. This evidence concerns the gene NALCN and respiratory failure.