Term Name: Charcot-Marie-Tooth disease type 2EE
Synonyms: Charcot-Marie-Tooth disease, axonal, type 2EE, CMT2EE
Definition: A Charcot-Marie-Tooth disease type 2 characterized by slowly progressive axonal neuropathy primarily affecting the lower limbs with onset in the first or second decades of life that has_material_basis_in homozygous or compound heterozygous mutation in the MPV17 gene on chromosome 2p23.3.
Ontology: Human Disease [DOID:0111559]   ( DOID:0111559 )

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