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Charcot-Marie-Tooth disease type 4E
Summary
- Synonym
-
- CMT4E
- Charcot-Marie-Tooth neuropathy type 4E
- Neuropathy, congenital hypomyelinating, 1
- autosomal recessive congenital hypomyelinating or amyelinating neuropathy
- Definition
- A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or heterozygous mutation in the EGR2 gene on chromosome 10q21 or by heterozygous mutation in the MPZ gene on chromosome 1q23.
- Super Class
- Charcot-Marie-Tooth disease type 4 autosomal dominant disease autosomal recessive disease
External Links
- Disease Ontology
- DOID:0110195
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
