ACP5 and Spondyloenchondrodysplasia with immune dysregulation: The neurologic manifestations can include spasticity, ataxia, or intellectual disability, and they may also present with intracranial calcifications [1,2]. A case is presented of a six-year-old boy with SPENCDI due to a homozygous frameshift mutation of the ACP5 gene c.549del p.(Gln184Serfs*28) likely pathogenic (Class 2).