219700.18

Country

Lebanon

HPO Terms

Abnormality of the respiratory system; Abnormality of the digestive system; Exocrine pancreatic insufficiency; Anemia
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Sex

Male

Family History

Yes

Parental Consanguinity

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000492.3:c.2856G>C1NA

Remarks

Compound heterozygous patient from family '285' in the publication (2nd mutation unknown)
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