Considering established recessive SysNDD genes, top-ranked genes (frequency > 1%) included PAH, KIAA0586, PMM2, DHCR7, and MCCC2 (Supplementary Table 1a), most of which exert biochemical phenotypes, with PAH, PMM2 and DHCR7 being treatable. This evidence concerns the gene PAH and pulmonary arterial hypertension.