Charcot-Marie-Tooth disease type 2B1 (DOID:0110156)
Alliance: disease page
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
Alt IDs: OMIM:605588, ICD10CM:G60.0, ORDO:98856
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.