219700.G.1.1

Country

Bahrain

HPO Terms

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

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000492.3:c.416A>T2NA
NM_000492.3:c.3529A>T2NA

Remarks

2 compound heterozygous patients from a family

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
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.1.3BahrainFailure to thrive; Exocrine pancreatic insufficiency; Recurrent lower respiratory tract infections; Meconium ileusUnknown3 patients from a family of Persian origin
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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