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Cataract-nephropathy-encephalopathy syndrome

Disease definition

Cataract - nephropathy - encephalopathy syndrome describes a lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). The combination of cataract - nephropathy - encephalopathy has been described in 2 female infant children of first cousin parents. The infants did not survive beyond 4 and 8 months respectively. There have been no further descriptions in the literature since 1963.

ORPHA:1380

  • Synonym(s):
    • Crome syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: Q87.8
  • OMIM: 218900
  • UMLS: C0795914
  • MeSH: -
  • GARD: 1614
  • MedDRA: -

Detailed information

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