125800.1.1

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Country

United Arab Emirates

HPO Terms

Failure to thrive in infancy; Vomiting; Hypernatremic dehydration; Polyuria; Irritability
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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000486.6:c.377C>T2
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Remarks

The patient also had two paternal uncles with nephrogenic diabetes insipidus

References

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
125800.1.2United Arab EmiratesPolyuria; Polydipsia; Abnormal renal physiologyMaleYesYesFather of 125800.1.1
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.