306955.1.1

Country

Lebanon

HPO Terms

Cyanosis; Neonatal respiratory distress; Hypertelorism; Sagittal craniosynostosis; Transposition of the great arteries; Neonatal death;
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Sex

Male

Family History

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_003413.3:c.1222A>T1

Remarks

Maternal cousin of 306955.1.2

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
306955.1.2LebanonCyanosis; Neonatal respiratory distress; Hypertelorism; Wide nasal base; Persistent left superior vena cava; Atrial septal defect; Hypoplasia of right ventricle; Neonatal death;MaleYesMaternal cousin of 306955.1.1
306955.1.3LebanonCyanosis; Neonatal death;MaleYesMaternal uncle of 306955.1.1 and 306955.1.2
306955.1.4LebanonFemaleMother of 306955.1.1
306955.1.5LebanonFemaleMother of 306955.1.2
306955.1.6LebanonFemaleGrandmother of 306955.1.1 and 306955.1.2
306955.1.7LebanonMaleMaternal Uncle of 306955.1.1 306955.1.2
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