613225.1.1

Country

Lebanon

HPO Terms

Prolonged partial thromboplastin time; Reduced factor XIII activity; Persistent bleeding after trauma; Prolonged bleeding time; Bruising susceptibility; Intracranial hemorrhage; Splenic rupture

Back to search Result

Sex

Male

Family History

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000129.3:c.1475_1476delGA	2		Factor XIII, A Subunit, Deficiency of

Download Table

References

Khalife et al, 2008