219800.1.1

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.18_21del2

Remarks

Patient 'P4' in the publication

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
219800.1.2ArabMaleYesYesBrother of patient 'P4' in the publication
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