Term Name: | Charcot-Marie-Tooth disease type 4B1 |
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Synonyms: | autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B1, Charcot-Marie-Tooth neuropathy type 4B1, CMT4B1 |
Definition: | A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the gene encoding the myotubularin-related protein-2 (MTMR2). |
Ontology: | Human Disease [DOID:0110191] ( DOID:0110191 ) |