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- B5ed252c4211f7de77879f548b6a4973b hasDbXref "Orphanet:88618" @default.
- B5ed252c4211f7de77879f548b6a4973b type Axiom @default.
- B5ed252c4211f7de77879f548b6a4973b annotatedProperty IAO_0000115 @default.
- B5ed252c4211f7de77879f548b6a4973b annotatedSource MONDO_0013404 @default.
- B5ed252c4211f7de77879f548b6a4973b annotatedTarget "Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency is characterized by psychomotor delay and severe myopathy (hypotonia, absent tendon reflexes and delayed myelination) from birth, associated with hypermethioninaemia and elevated serum creatine kinase levels." @default.