Charcot-Marie-Tooth disease type 2EE (DOID:0111559)
Alliance: disease page
Synonyms: Charcot-Marie-Tooth disease, axonal, type 2EE; CMT2EE
Alt IDs: OMIM:618400
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.