Bi-allelic CSF1R mutations have also been reported in seven affected individuals from three unrelated families who had, in addition to early onset HDLS-like neurological disorders, brain malformations and skeletal dysplasia compatible with dysosteosclerosis or Pyle disease [82]. The gene discussed is CSF1R; the disease is Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia.