| Term Name: | Charcot-Marie-Tooth disease type 4C | 
|---|---|
| Synonyms: | autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth neuropathy type 4C, CMT4C | 
| Definition: | A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SH3TC2 gene. | 
| Ontology: | Human Disease [DOID:0110183] ( DOID:0110183 ) |