619611.1

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Country

United Arab Emirates

HPO Terms

Recurrent respiratory infections; Elevated pulmonary artery pressure; Obstructive sleep apnea
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Sex

Female

Family History

No

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001093770.2:c.293G>C1
NM_001089.2:c.3169G>A1
NM_000492.4:c.3469-20T>C1
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Remarks

Patient had trisomy 21

References

© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.