614328.1.1

Country

Lebanon

HPO Terms

Bloody diarrhea; Erythema; Neonatal onset;
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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant Name Allele Count Allele Frequency Associated Disease Associated Gene
NM_003183.5:c.603_606delCAGA 2

References

Related Subjects

Subject Id Country HPO Terms Sex Family History Parental Consanguinity Remarks
614328.1.2 Lebanon Bloody diarrhea; Erythema; Neonatal onset; Male Yes Yes Brother of 614328.1.1
614328.1.3 Lebanon Female Mother of 614328.1.1
614328.1.4 Lebanon Male Father of 614328.1.1
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