Charcot-Marie-Tooth disease type 2A2B

Term ID

DOID:0111557

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. https://www.ncbi.nlm.nih.gov/pubmed/21715711

References

• OMIM:617087
• ORDO:90118

Ontology

Human Disease   ( DOID:0111557 )