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Charcot-Marie-Tooth disease X-linked recessive 4
Summary
- Synonym
-
- CMT4X
- CMTX4
- Charcot-Marie-Tooth disease with deafness and mental retardation
- Cowchock syndrome
- NADMR
- NAMSD
- X-linked Charcot-Marie-Tooth disease type 4
- axonal motor sensory neuropathy with deafness and mental retardation
- Definition
- A Charcot-Marie-Tooth disease X-linked that has_material_basis_in mutation in the AIFM1 gene on chromosome Xq26.
- Super Class
- Charcot-Marie-Tooth disease type X X-linked recessive disease
External Links
- Disease Ontology
- DOID:0110212
- Mondo Disease Ontology
- ORDO
- OMIM
