254800.1.6

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Country

United Arab Emirates
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Sex

Male

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000100.4:c.-210CCCCGCCCCGCG[(2_3)]1
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Remarks

Father of 254800.1.1

References

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
254800.1.1United Arab EmiratesIntellectual disability; Morning myoclonic jerks; Bilateral tonic-clonic seizure; Dysarthria; AtaxiaFemaleYesYes
254800.1.2United Arab EmiratesIntellectual disability, borderline; Morning myoclonic jerks; Bilateral tonic-clonic seizure; Dysarthria; AtaxiaFemaleYesYesSister of 254800.1.1
254800.1.3United Arab EmiratesIntellectual disability, borderline; Morning myoclonic jerks; Bilateral tonic-clonic seizure; Dysarthria; AtaxiaFemaleYesYesSister of 254800.1.1
254800.1.4United Arab EmiratesIntellectual disability, borderline; Morning myoclonic jerks; Bilateral tonic-clonic seizure; Dysarthria; AtaxiaMaleYesYesBrother of 254800.1.1
254800.1.5United Arab EmiratesIntellectual disability, borderline; Morning myoclonic jerks; Bilateral tonic-clonic seizure; Dysarthria; AtaxiaMaleYesYesBrother of 254800.1.1
254800.1.7United Arab EmiratesFemaleMother of 254800.1.1
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© CAGS 2024. All rights reserved.