256300.1.4

Country

Lebanon

HPO Terms

Nephrotic syndrome ; Death in infancy
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_004646.3:c.1317T>G2

Remarks

Brother of 256300.1.1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
256300.1.1LebanonAtrial septal defect ; Ascites ; Nephrotic syndrome ; Death in infancyFemaleYesYesWhile the homozygous mutation led to congenital nephrotic syndrome and early neonatal death, the heterozygous form of the mutation in this family was found to be associated with aortic stenosis.
256300.1.2LebanonNephrotic syndrome ; Death in infancyFemaleYesYesSister of 256300.1.1
256300.1.3LebanonNephrotic syndrome ; Death in infancyMaleYesYesBrother of 256300.1.1
256300.1.5LebanonCoarctation of aorta ; Aortic valve stenosisMaleYesYesBrother of 256300.1.1
256300.1.6LebanonAortic valve stenosisMaleYesFather of 256300.1.1
256300.1.7LebanonFemaleYesMother of 256300.1.1
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