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Metadata
DOID DOID:0110195
Name Charcot-Marie-Tooth disease type 4E
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.
https://www.ncbi.nlm.nih.gov/pubmed/15184631, https://www.ncbi.nlm.nih.gov/pubmed/9537424
Synonyms

autosomal recessive congenital hypomyelinating or amyelinating neuropathy [EXACT]

Charcot-Marie-Tooth neuropathy type 4E [EXACT]

CMT4E [EXACT]

Neuropathy, congenital hypomyelinating, 1 [EXACT]

Xrefs

ICD10CM:G60.0

OMIM:605253

ORDO:99951

Relationships

is_a Charcot-Marie-Tooth disease type 4

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