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Charcot-Marie-Tooth disease type 4B1
1 OMIM reference -
1 associated gene
6 connected diseases
No signs/symptoms info
Disease Type of connection
Charcot-Marie-Tooth disease type 4B3
Autosomal dominant Charcot-Marie-Tooth disease type 2E
Charcot-Marie-Tooth disease type 1F
Severe early-onset axonal neuropathy due to NEFL deficiency
Autosomal dominant Charcot-Marie-Tooth disease type 2P
Romano-Ward syndrome
Synonym(s):
- CMT4B1
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: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
1 MeSH reference: C535420
Gene symbol UniProt reference OMIM reference
MTMR2 Q13614603557
No signs/symptoms info available.