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Autosomal dominant Charcot-Marie-Tooth disease type 2L
1 OMIM reference -
1 associated gene
10 connected diseases
No signs/symptoms info
Disease Type of connection
Distal hereditary motor neuropathy type 2
Familial isolated dilated cardiomyopathy
Autosomal dominant Charcot-Marie-Tooth disease type 2F
Muscular dystrophy, Selcen type
Alpha-crystallinopathy
Fatal infantile hypertonic myofibrillar myopathy
Posterior polar cataract
Zonular cataract
Parkinsonian-pyramidal syndrome
Young adult-onset Parkinsonism
Synonym(s):
- CMT2L
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: -
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
HSPB8 Q9UJY1608014
No signs/symptoms info available.