Term Name: Charcot-Marie-Tooth disease type 4B2
Synonyms: autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B2, Charcot-Marie-Tooth neuropathy type 4B2, CMT4B2
Definition: A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the SBF2 gene.
Ontology: Human Disease [DOID:0110190]   ( DOID:0110190 )

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