A congenital myasthenic syndrome with a finding of tubular aggregates in myofibers.
Comprehensive, easy-to-understand information about this condition
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polymicrogyria
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prenatal-onset spinal muscular atrophy with congenital bone fractures
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anencephaly
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cerebral cavernous malformation
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meningocele
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progressive external ophthalmoplegia
MONDO:0005181