Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;
An autosomal recessive sub-type of Charcot-Marie-Tooth disease caused by compound heterozygous or homozygous mutation(s) in the MFN2 gene, encoding mitofusin-2. This condition is more severe and has an earlier onset as compared to Charcot-Marie-Tooth disease type 2A2A.
MONDO:0015626
Charcot-Marie-Tooth disease
is_a
CMT2A2B
related
Charcot-Marie-Tooth disease type 2A2B
exact
SPBC1706.03