Term Name: Charcot-Marie-Tooth disease type 4J
Synonyms: autosomal recessive Charcot-Marie-Tooth disease type 4J, CMT4J
Definition: A Charcot-Marie-Tooth disease type 4 that has_material_basis_in compound heterozygous mutations in the FIG4 gene on chromosome 6q21.
Ontology: Human Disease [DOID:0110184]   ( DOID:0110184 )

Relationships
is a type of: autosomal recessive disease Charcot-Marie-Tooth disease type 4