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Charcot-Marie-Tooth disease type 4K
Summary
- Synonym
-
- CMT4K
- SURF1-related CMT4
- SURF1-related Charcot-Marie-Tooth disease type 4
- SURF1-related severe demyelinating Charcot-Marie-Tooth disease
- autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4K
- autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy type 4K
- Definition
- A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SURF1 gene on chromosome 9q34.
- Super Class
- Charcot-Marie-Tooth disease type 4 autosomal recessive disease
External Links
- Disease Ontology
- DOID:0110187
- Mondo Disease Ontology
- ORDO
- OMIM
