253260.G.14

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Country

Somalia

HPO Terms

Decreased biotinidase level
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Sex

Unknown

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001281723.3:c.364C>ANANA
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Remarks

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

References

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
253260.G.1SomaliaDecreased biotinidase levelUnknownCompound heterozygous mutation identified in unknown number of Emiratis.
253260.G.2SomaliaDecreased biotinidase levelUnknownMutation (homozygous+compound heterozygous) identified in unknown number of Emiratis.
253260.G.3SomaliaDecreased biotinidase levelUnknownCompound heterozygous mutation identified in unknown number of Emiratis.
253260.G.4SomaliaDecreased biotinidase levelUnknownCompound heterozygous mutation identified in unknown number of Emiratis.
253260.G.5SomaliaDecreased biotinidase levelUnknownCompound heterozygous mutation identified in unknown number of Emiratis.
253260.G.6SomaliaDecreased biotinidase levelUnknownMutation (homozygous+compound heterozygous) identified in unknown number of Emiratis.
253260.G.7SomaliaDecreased biotinidase levelUnknownCompound heterozygous mutation identified in unknown number of Emiratis.
253260.G.8SomaliaDecreased biotinidase levelUnknownCompound heterozygous mutation identified in unknown number of Emiratis.
253260.G.9SomaliaDecreased biotinidase levelUnknownUAE resident(s) of Egyptian origin. Number of patient(s) unknown.
253260.G.10SomaliaDecreased biotinidase levelUnknownUAE resident(s) of Palestinian origin. Number of patient(s) unknown.
253260.G.11SomaliaDecreased biotinidase levelUnknownUAE resident(s) of Syrian origin. Number of patient(s) unknown.
253260.G.12SomaliaDecreased biotinidase levelUnknownUAE resident(s) of Moroccan origin. Number of patient(s) unknown.
253260.G.13SomaliaDecreased biotinidase levelUnknownUAE resident(s) of Yemeni origin. Number of patient(s) unknown.
253260.G.15SomaliaFemaleGroup of 2 Emirati females
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© CAGS 2024. All rights reserved.