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230000.1
Home
Subject Details
Country
United Arab Emirates
HPO Terms
Global developmental delay; Intellectual disability; Specific learning disability
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Sex
Female
Family History
No
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000147.4:c.558dup
2
Fucosidosis
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References
Saleh et al. 2021
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