Term Name: | Charcot-Marie-Tooth disease type 4J |
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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 ) |