219700.4

Country

Egypt

HPO Terms

Hyponatremia; Hypochloremia; Hypokalemic metabolic alkalosis
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Sex

Female

Family History

No

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000492.3:c.3909C>G2NA

Remarks

Patient presented with Pseudo Bartter's syndrome

References

  • Wahab et al. 2004a
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