44,51 We identified three genes (SMN1: spinal muscular atrophy, ELP1: familial dysautonomia, and BLM: Bloom syndrome) and included these in Table 5. All three of these genes are associated with conditions that have a carrier frequency that is highly represented in one or more patient ...
also commonly referred to as “dysautonomia” or “sympathetic storming.” This syndrome is characterized by a constellation of adrenergic symptoms, including agitation, diaphoresis, hyperthermia, hypertension, tachycardia, and tachypnea accompanied by motor symptoms such as...