The phenotype of IARO, previously associated with mutations in the PLEKHM1, CLCN7, and CA2 genes1–3, 21, 24, is defined as asymptomatic at birth, with patients exhibiting fractures by the end of their first decade of life, while bone marrow failure and hepato-splenomegaly are rare24–27. The gene discussed is PLEKHM1; the disease is Bone marrow hypocellularity.