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248500.4
Home
Subject Details
Country
United Arab Emirates
HPO Terms
Global developmental delay
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Sex
Female
Family History
Yes
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000528.3:c.2356-2A>G
2
Mannosidosis, Alpha B, Lysosomal
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Remarks
Affected sister
References
Saleh et al. 2021
Related Subjects
Subject Id
Country
HPO Terms
Sex
Family History
Parental Consanguinity
Remarks
248500.5
United Arab Emirates
Intellectual disability; Global developmental delay; Hearing impairment; Abnormal facial shape
Female
No
Yes
248500.6
United Arab Emirates
Unknown
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