In a 2yo girl with generalised hypotonia, feeding difficulties, respiratory insufficiency, microcephaly, callosal atrophy, facial dysmorphism, variable ptosis, quadruparesis, scoliosis, flexion contractures, and paroxysmal EEG activity, whole exome sequencing (WES) revealed the homozygous mutation c.304C > T in the MUNC13–1 gene [36]. The gene discussed is UNC13A; the disease is Respiratory insufficiency.