237300.1.3

Country

Lebanon
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Sex

Female

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001875.4:c.4101+2T>C1

Remarks

Mother of 237300.1.1; Daughter of 237300.1.2

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
237300.1.1LebanonHyperammonemia; Encephalopathy; Respiratory alkalosis; Dehydration; Increased intracranial pressure; Death in childhood ;MaleYesYes
237300.1.2LebanonHyperammonemia; Confusion; Adult onset;MaleYesGrandfather of 237300.1.1
237300.1.4LebanonMaleFather of 237300.1.1
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