219800.G.1

Country

Arab

HPO Terms

Renal tubular acidosis; Growth delay; Glycosuria; Corneal crystals ;
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Sex

Unknown

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_004937.3:c.681G>A 16

Remarks

8 patients of Arab origin
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