Term Name: | Charcot-Marie-Tooth disease type 4E |
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Synonyms: | autosomal recessive congenital hypomyelinating or amyelinating neuropathy, Charcot-Marie-Tooth neuropathy type 4E, CMT4E, Neuropathy, congenital hypomyelinating, 1 |
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. |
Ontology: | Human Disease [DOID:0110195] ( DOID:0110195 ) |