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Charcot-Marie-Tooth disease axonal type 2CC
Summary
- Synonym
-
- CMT2CC
- Charcot-Marie-Tooth neuropathy type 2CC
- Definition
- A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NEFH gene on chromosome 22q12.
- Super Class
- Charcot-Marie-Tooth disease type 2 autosomal dominant disease
External Links
- Disease Ontology
- DOID:0110180
- Mondo Disease Ontology
- OMIM
