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Charcot-Marie-Tooth disease axonal type 2X
Summary
- Synonym
-
- Charcot-Marie-Tooth neuropathy type 2X
- autosomal recessive axonal Charcot-Marie-Tooth disease 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.
- Super Class
- Charcot-Marie-Tooth disease type 2 autosomal recessive disease
External Links
- Disease Ontology
- DOID:0110176
- Mondo Disease Ontology
- ORDO
- OMIM
