Human genes for Charcot-Marie-Tooth disease type 2A2B
Charcot-Marie-Tooth disease type 2A2B [DOID:0111557]
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.
Synonyms: Charcot-Marie-Tooth disease type 2A2B, CharcotMarieTooth disease type 2A2B, DOID:0111557, AR-CMT2, Ouvrier type, autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type ...