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Myopathy, tubular aggregate, 2
Any tubular aggregate myopathy in which the cause of the disease is a mutation in the ORAI1 gene. [from MONDO]
Combined immunodeficiency due to ORAI1 deficiency
Immunodeficiency-9 (IMD9) is an autosomal recessive disorder characterized by early onset of recurrent infections due to defective T-cell activation. Affected individuals also have congenital myopathy resulting in muscle weakness as well as features of ectodermal dysplasia, including soft dental enamel (summary by McCarl et al., 2009). [from OMIM]
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