219700.14

Country

Lebanon

HPO Terms

Abnormality of the respiratory system; Exocrine pancreatic insufficiency; Failure to thrive
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000492.3:c.3846G>A2NA

Remarks

Patient from family '272' in the publication
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