Human genes for Charcot-Marie-Tooth disease type 4E
Charcot-Marie-Tooth disease type 4E [DOID:0110195]
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.
Synonyms: Charcot-Marie-Tooth disease type 4E, CharcotMarieTooth disease type 4E, DOID:0110195, autosomal recessive congenital hypomyelinating or amyelinating neuropathy, Charcot-Marie-Tooth neuropathy type 4E ...