219700.9

Country

Lebanon

HPO Terms

Abnormality of the respiratory system; Recurrent upper respiratory tract infections; Failure to thrive
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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000492.3:c.3964-28G>A1NA

Remarks

Compound heterozygous patient from family '255' in the publication (2nd mutation unknown)
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