HBRF

604004.1.2

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Country

Lebanon

HPO Terms

Macrocephaly; Ataxia; Seizure;
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant Name Allele Count Allele Frequency Associated Disease Associated Gene
NM_015166.3:c.263G>T 2
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Remarks

Sibling of 604004.1.1

References

Related Subjects

Subject Id Country HPO Terms Sex Family History Parental Consanguinity Remarks
604004.1.1 Lebanon Macrocephaly; Ataxia; Seizure; Male Yes Yes
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.