231680.2.1

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Country

United Arab Emirates

HPO Terms

Episodic vomiting; Abdominal pain; Nausea; Metabolic acidosis; Hypoglycemia; Seizure; Glutaric aciduria
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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_004453.4:c.807A>C2
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References

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
231680.2.2United Arab EmiratesEpisodic vomiting; Nausea; Epigastric pain; Metabolic acidosisFemaleYesYesSibling of 231680.2.1
231680.2.3United Arab EmiratesGlutaric aciduria; AsthmaFemaleYesYesSibling of 231680.2.1. Mild presentation
231680.2.4United Arab EmiratesGlutaric aciduria; Episodic vomiting; Heart murmurMaleYesYesSibling of 231680.2.1. Mild presentation
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.