HBRF

230500.4.2

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Country

United Arab Emirates

HPO Terms

GM1-ganglioside accumulation
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Sex

Female

Family History

Yes

Subject Variants

Variant Name Allele Count Allele Frequency Associated Disease Associated Gene
NM_000404.4:c.914+4A>G 2
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Remarks

Sibling of 230500.4.1

References

Related Subjects

Subject Id Country HPO Terms Sex Family History Parental Consanguinity Remarks
230500.4.1 United Arab Emirates GM1-ganglioside accumulation Male Yes
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.