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Charcot-Marie-Tooth disease type 4E
1 OMIM reference -
1 associated gene
12 connected diseases
No signs/symptoms info
Disease Type of connection
Charcot-Marie-Tooth disease type 1D
Dejerine-Sottas syndrome
Methylmalonic acidemia with homocystinuria, type cblX
X-linked non-syndromic intellectual deficit
Hemolytic anemia due to diphosphoglycerate mutase deficiency
Isolated NADH-CoQ reductase deficiency
Spondyloenchondrodysplasia
Solitary fibrous tumor
Kallmann syndrome
Neurologic Waardenburg-Shah syndrome
Waardenburg syndrome type 2
Waardenburg-Shah syndrome
Synonym(s):
- Autosomal recessive congenital hypomyelinating neuropathy
- CMT4E
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: -
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
EGR2 P11161129010
No signs/symptoms info available.