234810.2.1

Country

Lebanon

HPO Terms

Exertional dyspnea; Pulmonary arterial hypertension; Pneumonia; Acute respiratory distress syndrome; Death (14 years after diagnosis)
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Sex

Female

Family History

No

Parental Consanguinity

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001013703.4:c.1671A>G2

Remarks

Index patient

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
234810.2.2LebanonExertional dyspnea; Pulmonary arterial hypertensionFemaleYesNoBrother of 234810.2.1
234810.2.3LebanonFemaleDaughter of 234810.2.1
234810.2.4LebanonMaleNephew of 234810.2.1, Son of 234810.2.2
234810.2.5LebanonFemaleNiece of 234810.2.1, Daughter of 234810.2.2
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