600880.1

Country

Lebanon

HPO Terms

Hepatosplenomegaly; Abnormal liver morphology; Portal hypertension; Hyperbilirubinemia; Elevated circulating C-reactive protein concentration; Thrombocytosis

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Sex

Female

Family History

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000506.4:c.*97G>A	1	NA	Budd-Chiari Syndrome
NM_004972.3:c.1849G>T	1	NA	Budd-Chiari Syndrome

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Remarks

Patient later developed essential thrombocythemia

References

Musallam et al, 2010