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- B5d73dc2ba50c0d854045444f4c45be9d hasDbXref "Orphanet:1380" @default.
- B5d73dc2ba50c0d854045444f4c45be9d type Axiom @default.
- B5d73dc2ba50c0d854045444f4c45be9d annotatedProperty IAO_0000115 @default.
- B5d73dc2ba50c0d854045444f4c45be9d annotatedSource MONDO_0009045 @default.
- B5d73dc2ba50c0d854045444f4c45be9d annotatedTarget "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." @default.