Charcot-Marie-Tooth disease type 2A2B (DOID:0111557)
Alliance: disease page
Synonyms: AR-CMT2, Ouvrier type; autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type; Charcot-Marie-Tooth disease, axonal, type 2A2B; CMT2A2B; SEOAN due to MFN2 deficiency; severe early-onset axonal neuropathy due to MFN2 deficiency
Alt IDs: OMIM:617087, ORDO:90118
Definition: A Charcot-Marie-Tooth disease type 2 characterized by onset of peripheral neuropathy in the first years of life that has_material_basis_in homozygous or compound heterozygous mutation in the MFN2 gene on chromosome 1p36.22.