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248500.5
Home
Subject Details
Country
United Arab Emirates
HPO Terms
Intellectual disability; Global developmental delay; Hearing impairment; Abnormal facial shape
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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_000528.3:c.1973G>A
2
Mannosidosis, Alpha B, Lysosomal
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References
Saleh et al. 2021
Related Subjects
Subject Id
Country
HPO Terms
Sex
Family History
Parental Consanguinity
Remarks
248500.4
United Arab Emirates
Global developmental delay
Female
Yes
Yes
Affected sister
248500.6
United Arab Emirates
Unknown
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