Charcot-Marie-Tooth disease axonal type 2X (DOID:0110176)
Alliance: disease page
Synonyms: autosomal recessive axonal Charcot-Marie-Tooth disease type 2X; Charcot-Marie-Tooth neuropathy type 2X
Alt IDs: OMIM:616668, ORDO:466775
Definition: A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the SPG11 gene on chromosome 15q21.