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2 Possible Causes for Fatal Liver Failure in Infancy (Occasional

  • Lethal Infantile Mitochondrial Myopathy

    11 fatal liver failure in infancy 60 33 occasional (7.5%) Occasional (29-5%) HP:0006583 12 myopathy 33 HP:0003198 13 lactic acidosis 33 HP:0003128 14 lethal infantile mitochondrial[malacards.org] (29-5%) HP:0001284 9 lethargy 60 33 occasional (7.5%) Occasional (29-5%) HP:0001254 10 generalized neonatal hypotonia 60 33 occasional (7.5%) Occasional (29-5%) HP:0008935[malacards.org] […] occasional (7.5%) Occasional (29-5%) HP:0001250 7 neonatal respiratory distress 60 33 occasional (7.5%) Occasional (29-5%) HP:0002643 8 areflexia 60 33 occasional (7.5%) Occasional[malacards.org]

  • Niemann-Pick Disease Type C1

    Company Science Genetic Testing for Niemann-Pick Disease, Type C Niemann-Pick disease, type C; NPC, Niemann-Pick disease type C1, NPC1, Niemann-Pick disease with cholesterol esterification block, Niemann-Pick disease, subacute juvenile form, Niemann-Pick disease, chronic neuronopathic form, Niemann-Pick disease without[…][centogene.com]

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