277900.37.1

Country

Lebanon

HPO Terms

Neurodevelopmental delay; Kayser-Fleischer ring; Increased urinary copper concentration
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Sex

Female

Family History

Yes

Subject Variants

Variant Name Allele Count Allele Frequency Associated Disease Associated Gene
NM_000053.3:c.3809A>G 2

References

Related Subjects

Subject Id Country HPO Terms Sex Family History Parental Consanguinity Remarks
277900.37.2 Lebanon Neurodevelopmental delay; Kayser-Fleischer ring; Increased urinary copper concentration Female Yes Sibling of 277900.37.1
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