219800.2

Country

Arab

HPO Terms

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

Unknown

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_004937.3:c.923G>A2

Remarks

Patient 'P5' in the publication
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