253260.G.10

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Country

Palestine

HPO Terms

Decreased biotinidase level
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Sex

Unknown

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001281723.3:c.1308A>CNANA
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Remarks

UAE resident(s) of Palestinian origin. Number of patient(s) unknown.

References

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
253260.G.1PalestineDecreased biotinidase levelUnknownCompound heterozygous mutation identified in unknown number of Emiratis.
253260.G.2PalestineDecreased biotinidase levelUnknownMutation (homozygous+compound heterozygous) identified in unknown number of Emiratis.
253260.G.3PalestineDecreased biotinidase levelUnknownCompound heterozygous mutation identified in unknown number of Emiratis.
253260.G.4PalestineDecreased biotinidase levelUnknownCompound heterozygous mutation identified in unknown number of Emiratis.
253260.G.5PalestineDecreased biotinidase levelUnknownCompound heterozygous mutation identified in unknown number of Emiratis.
253260.G.6PalestineDecreased biotinidase levelUnknownMutation (homozygous+compound heterozygous) identified in unknown number of Emiratis.
253260.G.7PalestineDecreased biotinidase levelUnknownCompound heterozygous mutation identified in unknown number of Emiratis.
253260.G.8PalestineDecreased biotinidase levelUnknownCompound heterozygous mutation identified in unknown number of Emiratis.
253260.G.9PalestineDecreased biotinidase levelUnknownUAE resident(s) of Egyptian origin. Number of patient(s) unknown.
253260.G.11PalestineDecreased biotinidase levelUnknownUAE resident(s) of Syrian origin. Number of patient(s) unknown.
253260.G.12PalestineDecreased biotinidase levelUnknownUAE resident(s) of Moroccan origin. Number of patient(s) unknown.
253260.G.13PalestineDecreased biotinidase levelUnknownUAE resident(s) of Yemeni origin. Number of patient(s) unknown.
253260.G.14PalestineDecreased biotinidase levelUnknownUAE resident(s) of Somali origin. Number of patient(s) unknown.
253260.G.15PalestineFemaleGroup of 2 Emirati females
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.