Mutations of the FLNA gene cause a spectrum of disorders, called filaminopathies, characterized by dysmorphic features, abnormal neuronal migration, vascular and cardiac defects, and intestinal dysmotility leading to CIPO and congenital short bowel syndrome (CSBS) (OMIM #615237) (Popowicz et al., 2006; Wade et al., 2020; McKusick- Nathans Institute of Genetic Medicine, 2023). The gene discussed is FLNA; the disease is myofibrillar myopathy 5.