253260.G.11

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Country

Syria

HPO Terms

Decreased biotinidase level
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Sex

Unknown

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001281723.3:c.410G>ANANA
NM_001370658.1:c.1535C>TNANA
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Remarks

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

References

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
253260.G.1SyriaDecreased biotinidase levelUnknownCompound heterozygous mutation identified in unknown number of Emiratis.
253260.G.2SyriaDecreased biotinidase levelUnknownMutation (homozygous+compound heterozygous) identified in unknown number of Emiratis.
253260.G.3SyriaDecreased biotinidase levelUnknownCompound heterozygous mutation identified in unknown number of Emiratis.
253260.G.4SyriaDecreased biotinidase levelUnknownCompound heterozygous mutation identified in unknown number of Emiratis.
253260.G.5SyriaDecreased biotinidase levelUnknownCompound heterozygous mutation identified in unknown number of Emiratis.
253260.G.6SyriaDecreased biotinidase levelUnknownMutation (homozygous+compound heterozygous) identified in unknown number of Emiratis.
253260.G.7SyriaDecreased biotinidase levelUnknownCompound heterozygous mutation identified in unknown number of Emiratis.
253260.G.8SyriaDecreased biotinidase levelUnknownCompound heterozygous mutation identified in unknown number of Emiratis.
253260.G.9SyriaDecreased biotinidase levelUnknownUAE resident(s) of Egyptian origin. Number of patient(s) unknown.
253260.G.10SyriaDecreased biotinidase levelUnknownUAE resident(s) of Palestinian origin. Number of patient(s) unknown.
253260.G.12SyriaDecreased biotinidase levelUnknownUAE resident(s) of Moroccan origin. Number of patient(s) unknown.
253260.G.13SyriaDecreased biotinidase levelUnknownUAE resident(s) of Yemeni origin. Number of patient(s) unknown.
253260.G.14SyriaDecreased biotinidase levelUnknownUAE resident(s) of Somali origin. Number of patient(s) unknown.
253260.G.15SyriaFemaleGroup of 2 Emirati females
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© CAGS 2024. All rights reserved.