219700.20

Country

Lebanon

HPO Terms

Abnormality of the digestive system; Exocrine pancreatic insufficiency; Failure to thrive
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Sex

Male

Family History

Yes

Parental Consanguinity

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000492.3:c.2015_2017del1NA

Remarks

Compound heterozygous patient from family '288' in the publication (2nd mutation unknown)
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