253260.G.3

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Country

United Arab Emirates

HPO Terms

Decreased biotinidase level
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Sex

Unknown

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001370658.1:c.1535C>TNANA
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Remarks

Compound heterozygous mutation identified in unknown number of Emiratis.

References

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
253260.G.1United Arab EmiratesDecreased biotinidase levelUnknownCompound heterozygous mutation identified in unknown number of Emiratis.
253260.G.2United Arab EmiratesDecreased biotinidase levelUnknownMutation (homozygous+compound heterozygous) identified in unknown number of Emiratis.
253260.G.4United Arab EmiratesDecreased biotinidase levelUnknownCompound heterozygous mutation identified in unknown number of Emiratis.
253260.G.5United Arab EmiratesDecreased biotinidase levelUnknownCompound heterozygous mutation identified in unknown number of Emiratis.
253260.G.6United Arab EmiratesDecreased biotinidase levelUnknownMutation (homozygous+compound heterozygous) identified in unknown number of Emiratis.
253260.G.7United Arab EmiratesDecreased biotinidase levelUnknownCompound heterozygous mutation identified in unknown number of Emiratis.
253260.G.8United Arab EmiratesDecreased biotinidase levelUnknownCompound heterozygous mutation identified in unknown number of Emiratis.
253260.G.9United Arab EmiratesDecreased biotinidase levelUnknownUAE resident(s) of Egyptian origin. Number of patient(s) unknown.
253260.G.10United Arab EmiratesDecreased biotinidase levelUnknownUAE resident(s) of Palestinian origin. Number of patient(s) unknown.
253260.G.11United Arab EmiratesDecreased biotinidase levelUnknownUAE resident(s) of Syrian origin. Number of patient(s) unknown.
253260.G.12United Arab EmiratesDecreased biotinidase levelUnknownUAE resident(s) of Moroccan origin. Number of patient(s) unknown.
253260.G.13United Arab EmiratesDecreased biotinidase levelUnknownUAE resident(s) of Yemeni origin. Number of patient(s) unknown.
253260.G.14United Arab EmiratesDecreased biotinidase levelUnknownUAE resident(s) of Somali origin. Number of patient(s) unknown.
253260.G.15United Arab EmiratesFemaleGroup of 2 Emirati females
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© CAGS 2024. All rights reserved.