601631.1.4

Country

Lebanon

HPO Terms

;

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001937.5:c.446A>G1
NM_172390.3:c.704G>A1

Remarks

Father of 601631.1.1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
601631.1.1LebanonPrimary congenital glaucoma; Aniridia; Ventricular septal defectFemaleYesYes
601631.1.2LebanonPrimary congenital glaucoma; AniridiaMaleYesYesSibling of 601631.1.1
601631.1.3LebanonPrimary congenital glaucoma; Aniridia; Congestive heart failure; ventricular septal defect;FemaleYesYesSibling of 601631.1.1
601631.1.5Lebanon;FemaleMother of 601631.1.1
Back to search Result
© CAGS 2024. All rights reserved.