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248510.1
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Subject Details
Country
United Arab Emirates
HPO Terms
Global developmental delay; Failure to thrive
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Sex
Male
Family History
Yes
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_005908.3:c.545G>A
2
Mannosidosis, Beta A, Lysosomal
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Remarks
Affected sibling
References
Saleh et al. 2021
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