HBRF

230500.2

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Country

Saudi Arabia

HPO Terms

GM1-ganglioside accumulation
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Sex

Male

Family History

No

Subject Variants

Variant Name Allele Count Allele Frequency Associated Disease Associated Gene
NM_000404.4:c.145C>T 1
NM_000404.4:c.245+1G>A 1
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References

Related Subjects

Subject Id Country HPO Terms Sex Family History Parental Consanguinity Remarks
230500.1 Saudi Arabia GM1-ganglioside accumulation Female No
230500.3 Saudi Arabia GM1-ganglioside accumulation Male No
230500.6 Saudi Arabia GM1-ganglioside accumulation Male No Yes
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.