Without extensively covering reported cases, they include Gaucher's disease, a lysosomal storage disorder associated with gene encoding acid beta-glucosidase (GBA) mutations leading to a reduction in the activity of acid β-glucosidase and accumulation of glycolipid [28], RASopathies-developmental disorders caused by a mutation in the Ras and associated Mitogen-Activated Protein (MAP) kinase signaling pathways [29] and the Metabolism Of Cobalamin Associated C gene (MMACHC) where case reports have demonstrated reversibility of PH with parenteral hydroxocobalamin treatment [30]. The gene discussed is GBA1; the disease is RASopathy.