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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease ptosis
Comorbidity C0033687|proteinuria
Sentences 2
PubMedID- 21656172 The first patient was a 9-year-old girl with a common 4.9-kb mtdna deletion, who presented with hematuria and proteinuria associated with ptosis and ophthalmoplegia, failure to thrive, high serum lactate and pyruvate levels, and ragged red fibers on muscle biopsy.
PubMedID- 23478950 We present an unusual case of third nerve palsy, (presenting as diplopia, ptosis) with hypertension, hyperreflexia, proteinuria, easy bruising in a parturient at 34 + 6/52 weeks of twins gestation.

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