Charcot-Marie-Tooth Disease Type 4J

**Semantic type:** Disease or Syndrome

**Definition:** A form of Charcot-Marie-Tooth disease which is inherited in an autosomal recessive manner. It is caused by mutation(s) in the FIG4 gene, encoding polyphosphoinositide phosphatase. It results in peripheral demyelinating motor and sensory neuropathy.

**Synonyms:** - CMT4J