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