614258.1.8

Country

Syria

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_007055.4:c.2003+18G>A1

Remarks

Mother of 614258.1.1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
614258.1.1SyriaAgenesis of permanent teeth; Dysarthria; Intention tremor; LeukodystrophyMaleYesYes
614258.1.2SyriaAgenesis of permanent teeth; Dysarthria; Intention tremor; LeukodystrophyFemaleYesYesSibling of 614258.1.1
614258.1.3SyriaAgenesis of permanent teeth; Dysarthria; Intention tremor; LeukodystrophyFemaleYesYesSibling of 614258.1.1
614258.1.4SyriaAgenesis of permanent teeth; Dysarthria; Intention tremor; LeukodystrophyFemaleYesYesSibling of 614258.1.1
614258.1.5SyriaAgenesis of permanent teeth; Dysarthria; Intention tremor; LeukodystrophyMaleYesYesFirst cousin of 614258.1.1
614258.1.6SyriaAgenesis of permanent teeth; Dysarthria; Intention tremor; LeukodystrophyMaleYesYesFirst cousin of 614258.1.1
614258.1.7SyriaMaleFather of 614258.1.1
Back to search Result
© CAGS 2024. All rights reserved.