612304.6.1

Country

United Arab Emirates

HPO Terms

Reduced protein C activity; Purpura; Anemia; Thrombocytopenia; Chronic disseminated intravascular coagulation; Prolonged prothrombin time; Prolonged partial thromboplastin time; Sepsis; Hypertension; Respiratory failure requiring assisted ventilation

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Sex

Male

Family History

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000312.3:c.1198G>A	2		Thrombophilia Due to Protein C Deficiency, Autosomal Recessive

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References

Al Harbi et al. 2017

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
612304.6.2	United Arab Emirates		Male			Father of 612304.6.1
612304.6.3	United Arab Emirates		Female			Mother of 612304.6.1