249000.9

Country

Kuwait

HPO Terms

Renal cyst; Postaxial polydactyly; Encephalocele; Malformation of the hepatic ductal plate
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Sex

Unknown

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_017777.4:c.515+1G>A2

Remarks

The patient had a similarly affected sibling
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