Term Name: Charcot-Marie-Tooth disease type 2B1
Synonyms: autosomal recessive axonal Charcot-Marie-Tooth disease type 2B1, autosomal recessive axonal CMT4C1, autosomal recessive Charcot-Marie-Tooth disease type 2B1, Charcot-Marie-Tooth disease neuronal type 2B1, Charcot-Marie-Tooth neuropathy type 2B1, CMT2B1
Definition: A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the lamin A/C gene (LMNA) on chromosome 1q22.
Ontology: Human Disease [DOID:0110156]   ( DOID:0110156 )

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