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Autosomal dominant spastic paraplegia type 17
1 OMIM reference -
1 associated gene
3 connected diseases
No signs/symptoms info
Disease Type of connection
Berardinelli-Seip congenital lipodystrophy
Distal hereditary motor neuropathy type 5
Severe neurodegenerative syndrome with lipodystrophy
Synonym(s):
- Distal hereditary motor neuropathy type 5B
- SPG17
- Silver Syndrome
- Spastic paraplegia-amyotrophy of hands and feet
- dHMN5B
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
BSCL2 Q96G97606158
No signs/symptoms info available.