Term Name: | Charcot-Marie-Tooth disease axonal type 2X |
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Synonyms: | autosomal recessive axonal Charcot-Marie-Tooth disease type 2X, Charcot-Marie-Tooth neuropathy type 2X |
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. |
Ontology: | Human Disease [DOID:0110176] ( DOID:0110176 ) |