autosomal recessive Charcot-Marie-Tooth disease, Ouvrier typeCMT2A2Bsevere early-onset axonal neuropathy due to MFN2 deficiencyCharcot-Marie-Tooth disease, axonal, type 2A2BSEOAN due to MFN2 deficiencyAR-CMT2, Ouvrier type
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
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 MFN2 on chromosome 1p36.22.