Term Name: | Charcot-Marie-Tooth disease type 2EE |
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Synonyms: | Charcot-Marie-Tooth disease, axonal, type 2EE, CMT2EE |
Definition: | A Charcot-Marie-Tooth disease type 2 characterized by slowly progressive axonal neuropathy primarily affecting the lower limbs with onset in the first or second decades of life that has_material_basis_in homozygous or compound heterozygous mutation in the MPV17 gene on chromosome 2p23.3. |
Ontology: | Human Disease [DOID:0111559] ( DOID:0111559 ) |