syndromic intellectual disability congenital nervous system disorder cataract-nephropathy-encephalopathy syndrome 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. GARD:0001614 ICD10:Q87.8 MESH:C536216 MONDO:0009045 OMIM:218900 Orphanet:1380 SCTID:722381004 UMLS:C0795914 congenital cataracts, renal tubular necrosis and encephalopathy in two sisters crome syndrome syndromic urogenital tract malformation syndromic renal or urinary tract malformation