Term Name: Charcot-Marie-Tooth disease type 4E
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 )

Relationships
is a type of: autosomal dominant disease autosomal recessive disease Charcot-Marie-Tooth disease type 4