219800.G.2.5

Country

Saudi Arabia

HPO Terms

Renal insufficiency; Corneal crystals

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_004937.3:c.1013T>G12

Remarks

6 patients with cystinosis

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
219800.G.2.1Saudi ArabiaRenal insufficiency; Corneal crystalsUnknown5 patients with cystinosis
219800.G.2.2Saudi ArabiaRenal insufficiency; Corneal crystalsUnknown2 patients with cystinosis
219800.G.2.3Saudi ArabiaRenal insufficiency; Corneal crystalsUnknown3 patients with cystinosis
219800.G.2.4Saudi ArabiaRenal insufficiency; Corneal crystalsUnknown2 patients with cystinosis
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