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602541.1
Home
Subject Details
Country
Saudi Arabia
HPO Terms
Failure to thrive; Motor delay; Hypotonia; Muscle weakness
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Sex
Unknown
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_005198.5:c.927+1G>A
2
Muscular Dystrophy, Congenital, Megaconial Type
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References
Monies et al. 2017
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