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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease ptosis
Comorbidity C0017921|pompe disease
Sentences 2
PubMedID- 21107130 ptosis in pompe disease: common genetic background in infantile and adult series.
PubMedID- 25139343 Conclusions: it is important that ophthalmic providers are aware of the high prevalence of myopia, astigmatism, and ptosis in children with infantile pompe disease treated with ert because they are potentially amblyogenic but treatable factors.

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