Term Name: Charcot-Marie-Tooth disease type 2A2B
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
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.
Ontology: Human Disease [DOID:0111557]   ( DOID:0111557 )

Relationships
is a type of: autosomal recessive disease Charcot-Marie-Tooth disease type 2