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Renal tubulopathy - encephalopathy - liver failure
1 OMIM reference -
1 associated gene
5 connected diseases
No signs/symptoms info
Disease Type of connection
Björnstad syndrome
GRACILE syndrome
Isolated CoQ-cytochrome C reductase deficiency
Leigh syndrome with nephrotic syndrome
Wolf-Hirschhorn syndrome
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: -
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
BCS1L Q9Y276603647
No signs/symptoms info available.