219700.G.1.3

Country

Bahrain

HPO Terms

Failure to thrive; Exocrine pancreatic insufficiency; Recurrent lower respiratory tract infections; Meconium ileus

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000492.4:c.1520_1522del6NA

Remarks

3 patients from a family of Persian origin

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
219700.G.1.1BahrainFailure to thrive; Exocrine pancreatic insufficiency; Recurrent lower respiratory tract infectionsUnknown2 compound heterozygous patients from a family
219700.G.1.2BahrainFailure to thrive; Exocrine pancreatic insufficiency; Recurrent lower respiratory tract infections; Meconium ileus; CholestasisUnknown3 compound heterozygous patients from 3 different families (2nd mutation unknown in all 3)
219700.G.1.4BahrainFailure to thrive; Exocrine pancreatic insufficiency; Recurrent lower respiratory tract infections; Meconium ileus; CholestasisUnknown5 patients from 4 families; 2 of these patients are from a family of Syrian origin
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