219800.4

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Country

Arab

HPO Terms

Renal tubular acidosis; Growth delay; Glycosuria; Polyuria; Polydipsia; Hypophosphatemic rickets; Corneal crystals; Proteinuria
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Sex

Unknown

Parental Consanguinity

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_004937.3:c.681G>A 1
NM_004937.3:c.1015G>A 1
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Remarks

Compound heterozygous patients 'P11' in the publication. P11 is of Arab and Persian origin

References

© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.