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Atherosclerosis- deafness - diabetes - epilepsy - nephropathy

Orpha number ORPHA1192
Synonym(s) Feigenbaum-Bergeron-Richardson syndrome
Prevalence <1 / 1 000 000
Inheritance
  • Autosomal recessive
Age of onset Childhood
ICD-10 -
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

This syndrome is characterised by sensorineural deafness, diabetes mellitus, progressive neurological deterioration with photomyoclonic epilepsy, and progressive nephropathy. It has been described in two brothers. Premature atherosclerosis of renal, coronary, and cerebral arteries and the aorta was also observed.


Last update: October 2006

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