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cataract-nephropathy-encephalopathy syndrome

Disease Summary
Associated Targets (0)

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Mondo Description 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.
Mondo Term and Equivalent IDs
MONDO:0009045:  cataract-nephropathy-encephalopathy syndrome
GARD:0001614: 
MESH:C536216: 
Orphanet:1380: 
SCTID:722381004: 
UMLS:C0795914: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found