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Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome

Disease definition

Atherosclerosis-deafness-diabetes-epilepsy-nephropathy 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.

ORPHA:1192

  • Synonym(s):
    • Feigenbaum-Bergeron-Richardson syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: -
  • OMIM: 209010
  • UMLS: C2931125
  • MeSH: -
  • GARD: 2279
  • MedDRA: -

Additional information

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