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615356.1
Home
Subject Details
Country
United Arab Emirates
HPO Terms
Global developmental delay; Generalized hypotonia; Elevated circulating creatine kinase concentration; Abnormal circulating phenylalanine concentration
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Sex
Unknown
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_021942.6:c.2938G>A
2
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
NM_020312.4:c.362T>C
2
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References
Al-Shamsi et al. 2016
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