607855.1

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Country

Lebanon

HPO Terms

Hypotonia; Motor delay; Abnormality of the musculature; Myopathy; Elevated circulating creatine kinase concentration; Muscular dystrophy; Limb-girdle muscle atrophy
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Sex

Female

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000426.3:c.8244+3_8244+6del2
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References

© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.