However, using OMIM database search and the program Phenomizer (Kohler et al., 2009, 2017), we found the best congruence with the clinical synopsis of HDLS and initiated targeted gene analysis of CSF1R which allowed us to confirm the diagnosis of HDLS in our patient. Here, CSF1R is linked to Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia.