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255995.1
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Subject Details
Country
United Arab Emirates
HPO Terms
Global developmental delay; Hypotonia; Myopathy; Scoliosis; Talipes
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Sex
Male
Family History
No
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_145064.3:c.851G>C
2
Myopathy, Congenital, Bailey-Bloch
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References
Saleh et al. 2021
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