Term Name:	congenital hypomyelinating neuropathy 1
Synonyms:	autosomal recessive congenital hypomyelinating or amyelinating neuropathy, Charcot-Marie-Tooth disease type 4E, Charcot-Marie-Tooth neuropathy type 4E, CHN1, CMT4E, Neuropathy, congenital hypomyelinating, 1
Definition:	A congenital hypomyelinating neuropathy that has_material_basis_in homozygous or heterozygous mutation in the EGR2 gene on chromosome 10q21.
Ontology:	Human Disease [DOID:0110195]   ( DOID:0110195 )