Charcot-Marie-Tooth disease type 4E

Term ID

DOID:0110195

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. (2)

References

• ICD10CM:G60.0
• OMIM:605253
• ORDO:99951

Ontology

Human Disease   ( DOID:0110195 )