606003.2

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Country

United Arab Emirates

HPO Terms

Hepatosplenomegaly; Cutis laxa; Proteinuria; Left ventricular hypertrophy; Abnormality of the coagulation cascade; Splenomegaly; Hepatic failure; Hepatocellular carcinoma; Mesangial hypercellularity; Dry skin; Hypertension; Failure to thrive
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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_006755.2:c.574C>T2
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Remarks

Belongs to a tribe of Saudi Arabian origin. Distantly related to 606003.1.1

References

© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.