253260.G.9

  1. Home
  2. Subject Details

Country

Egypt

HPO Terms

Decreased biotinidase level
Back to search Result
Sex

Unknown

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001281723.3:c.1429C>TNANA
NM_001281723.3:c.566G>ANANA
Download Table

Remarks

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

References

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
253260.G.1EgyptDecreased biotinidase levelUnknownCompound heterozygous mutation identified in unknown number of Emiratis.
253260.G.2EgyptDecreased biotinidase levelUnknownMutation (homozygous+compound heterozygous) identified in unknown number of Emiratis.
253260.G.3EgyptDecreased biotinidase levelUnknownCompound heterozygous mutation identified in unknown number of Emiratis.
253260.G.4EgyptDecreased biotinidase levelUnknownCompound heterozygous mutation identified in unknown number of Emiratis.
253260.G.5EgyptDecreased biotinidase levelUnknownCompound heterozygous mutation identified in unknown number of Emiratis.
253260.G.6EgyptDecreased biotinidase levelUnknownMutation (homozygous+compound heterozygous) identified in unknown number of Emiratis.
253260.G.7EgyptDecreased biotinidase levelUnknownCompound heterozygous mutation identified in unknown number of Emiratis.
253260.G.8EgyptDecreased biotinidase levelUnknownCompound heterozygous mutation identified in unknown number of Emiratis.
253260.G.10EgyptDecreased biotinidase levelUnknownUAE resident(s) of Palestinian origin. Number of patient(s) unknown.
253260.G.11EgyptDecreased biotinidase levelUnknownUAE resident(s) of Syrian origin. Number of patient(s) unknown.
253260.G.12EgyptDecreased biotinidase levelUnknownUAE resident(s) of Moroccan origin. Number of patient(s) unknown.
253260.G.13EgyptDecreased biotinidase levelUnknownUAE resident(s) of Yemeni origin. Number of patient(s) unknown.
253260.G.14EgyptDecreased biotinidase levelUnknownUAE resident(s) of Somali origin. Number of patient(s) unknown.
253260.G.15EgyptFemaleGroup of 2 Emirati females
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.