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Severe neurodegenerative syndrome with lipodystrophy
1 associated gene
3 connected diseases
No signs/symptoms info
Disease Type of connection
Autosomal dominant spastic paraplegia type 17
Berardinelli-Seip congenital lipodystrophy
Distal hereditary motor neuropathy type 5
Synonym(s):
- Severe neurodegenerative syndrome due to BSCL2 deficiency
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare neurologic disease
- Rare skin disease
Classification (ICD10):
(no data available)
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:
No OMIM references
No MeSH references
Gene symbol UniProt reference OMIM reference
BSCL2 Q96G97606158
No signs/symptoms info available.