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PedAM

Pediatric Disease Annotations & Medicines




Disease hypotonia
Phenotype C0013421|dystonia
Sentences 1
PubMedID- 24341803 The patient had hyperlactatemia (8 mmol/l), liver cytolysis (ast 305 u/l, alt 220 u/l, n < 40) and psychomotor regression that occurred suddenly and included severe trunk hypotonia, coma with dystonia and no head control.

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