The pheWAS identified several phenotypic associations of ADA2 pLOFs that align with ADA2 function and clinical presentation of individuals with autosomal recessive (AR) DADA2, including diseases of spleen, abnormal results of study function of liver, transient occlusion of retinal artery, abnormal coagulation profile, cranial nerve disorders, paraplegia and diplegia, granulomatous disorders of skin, ulcerative colitis, and elevated blood pressure (Fig. S5, A and B; and Tables S13, S14, and S15). The gene discussed is ADA2; the disease is paraplegia.