253260.G.12

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Country

Morocco

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

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

References

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
253260.G.1MoroccoDecreased biotinidase levelUnknownCompound heterozygous mutation identified in unknown number of Emiratis.
253260.G.2MoroccoDecreased biotinidase levelUnknownMutation (homozygous+compound heterozygous) identified in unknown number of Emiratis.
253260.G.3MoroccoDecreased biotinidase levelUnknownCompound heterozygous mutation identified in unknown number of Emiratis.
253260.G.4MoroccoDecreased biotinidase levelUnknownCompound heterozygous mutation identified in unknown number of Emiratis.
253260.G.5MoroccoDecreased biotinidase levelUnknownCompound heterozygous mutation identified in unknown number of Emiratis.
253260.G.6MoroccoDecreased biotinidase levelUnknownMutation (homozygous+compound heterozygous) identified in unknown number of Emiratis.
253260.G.7MoroccoDecreased biotinidase levelUnknownCompound heterozygous mutation identified in unknown number of Emiratis.
253260.G.8MoroccoDecreased biotinidase levelUnknownCompound heterozygous mutation identified in unknown number of Emiratis.
253260.G.9MoroccoDecreased biotinidase levelUnknownUAE resident(s) of Egyptian origin. Number of patient(s) unknown.
253260.G.10MoroccoDecreased biotinidase levelUnknownUAE resident(s) of Palestinian origin. Number of patient(s) unknown.
253260.G.11MoroccoDecreased biotinidase levelUnknownUAE resident(s) of Syrian origin. Number of patient(s) unknown.
253260.G.13MoroccoDecreased biotinidase levelUnknownUAE resident(s) of Yemeni origin. Number of patient(s) unknown.
253260.G.14MoroccoDecreased biotinidase levelUnknownUAE resident(s) of Somali origin. Number of patient(s) unknown.
253260.G.15MoroccoFemaleGroup of 2 Emirati females
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© CAGS 2024. All rights reserved.