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- B6fb8da50950babbdbb40422e51ed354a hasDbXref "Orphanet:17" @default.
- B6fb8da50950babbdbb40422e51ed354a type Axiom @default.
- B6fb8da50950babbdbb40422e51ed354a annotatedProperty IAO_0000115 @default.
- B6fb8da50950babbdbb40422e51ed354a annotatedSource MONDO_0009504 @default.
- B6fb8da50950babbdbb40422e51ed354a annotatedTarget "Fatal infantile lactic acidosis with methylmalonic aciduria is a rare neurometabolic disease characterized by infantile onset of severe encephalomyopathy, lactic acidosis and elevated methylmalonic acid urinary excretion. Clinically it manifests with severe psychomotor delay, hypotonia, failure to thrive, feeding difficulties and dystonia. Epilepsy and multiple congenital anomalies may be associated." @default.