219700.2

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.1029del1NA
NM_000492.3:c.1624G>T1NA

Remarks

Compound heterozygous patient
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