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264350.1
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Subject Details
Country
Lebanon
HPO Terms
Hyperkalemia; Hyponatremia; Metabolic acidosis; Abnormal circulating aldosterone
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Sex
Unknown
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000336.3:c.1542+1G>A
2
Pseudohypoaldosteronism, Type I, Autosomal Recessive
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References
Jalkh et al. 2019
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