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- B0effc99ea8e33ae9e5aeaddc6b9b819b hasDbXref "Orphanet:478049" @default.
- B0effc99ea8e33ae9e5aeaddc6b9b819b type Axiom @default.
- B0effc99ea8e33ae9e5aeaddc6b9b819b annotatedProperty IAO_0000115 @default.
- B0effc99ea8e33ae9e5aeaddc6b9b819b annotatedSource MONDO_0014976 @default.
- B0effc99ea8e33ae9e5aeaddc6b9b819b annotatedTarget "Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome is rare, genetic, neurometabolic disease characterized by global developmental delay, severe hypotonia, seizures, cataracts, cardiomyopathy (including left or bi-ventricular hypertrophy, dilated cardiomyopathy) and left ventricular non-compaction, typically resulting in infantile or early-childhood death. Patients usually present metabolic lactic acidosis, failure to thrive, head lag, respiratory problems and decrease in respiratory chain complex activity. Highly variable cerebral abnormalities have been reported and include microcephaly, prominent extra-axial cerebrospinal fluid spaces, diffuse neuronal loss and cortical/white matter gliosis." @default.