219700.7

Country

Lebanon

HPO Terms

Abnormality of the respiratory system; Meconium ileus; Exocrine pancreatic insufficiency; Recurrent upper respiratory tract infections
Back to search Result
Sex

Female

Family History

Yes

Parental Consanguinity

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000492.4:c.1520_1522del1NA
NM_000492.3:c.3909C>G1NA

Remarks

Compound heterozygous patient from family '249' in the publication
© CAGS 2024. All rights reserved.