Term Name: Charcot-Marie-Tooth disease type 4B1
Synonyms: autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B1, Charcot-Marie-Tooth neuropathy type 4B1, CMT4B1
Definition: A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the gene encoding the myotubularin-related protein-2 (MTMR2).
Ontology: Human Disease [DOID:0110191]   ( DOID:0110191 )

Relationships
is a type of: autosomal recessive disease Charcot-Marie-Tooth disease type 4