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Fanconi-Bickel syndrome
Epidemiology: rare
Pathology:
- hepatorenal glycogen accumulation
- proximal renal tubular dysfunction
- impaired utilization of glucose & galactose
Genetics:
- autosomal recessive
- associated with defects in SLC2A2
Related
Fanconi renotubular syndrome
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 227810
References
OMIM :accession 227810