Disease_Mapped_To_Gene Cellosaurus Disease Terminology Charcot-Marie-Tooth Disease Type 4B3 CMT4B3 An autosomal recessive form of Charcot-Marie-Tooth disease caused by mutations in the SBF1 gene, encoding myotubularin-related protein 5. Charcot-Marie-Tooth Disease Type 4B3 Disease or Syndrome Charcot-Marie-Tooth Disease Type 4B3 Cellosaurus C3695063 C190871 SBF1 Gene Charcot-Marie-Tooth Disease