256300.3.2

Country

Tunisia

HPO Terms

Death in infancy
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_004646.3:c.1170+2T>C2

Remarks

Brother of 256300.3.1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
256300.3.1TunisiaDeath in infancyMaleYesYes
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