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Charcot-Marie-Tooth disease type 4B3
1 OMIM reference -
1 associated gene
4 connected diseases
No signs/symptoms info
Disease Type of connection
Charcot-Marie-Tooth disease type 4B1
Hereditary nonpolyposis colon cancer
Autosomal recessive malignant osteopetrosis
Multiple endocrine neoplasia type 1
Synonym(s):
- CMT4B3
- Charcot-Marie-Tooth disease with focally folded myelin
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
SBF1 O95248603560
No signs/symptoms info available.