300100.1.2 - CAGS

300100.1.2

Country

Tunisia

HPO Terms

Reduced visual acuity; Multifocal seizures; Mental deterioration; Progressive language deterioration; Spasticity; Leukodystrophy; ;

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Sex

Male

Family History

Yes

Parental Consanguinity

No

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000033.3:c.947A>C	1		Adrenoleukodystrophy

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Remarks

Sibling of 300100.1.1, 300100.1.3, and 300100.1.4

References

Kallabi et al. 2016

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
300100.1.1	Tunisia	Gait disturbance; Reduced visual acuity; Mental deterioration; Generalized weakness of limb muscles; Motor axonal neuropathy;	Male	Yes	No	Sibling of 300100.1.2, 300100.1.3, and 300100.1.4
300100.1.3	Tunisia	; ;	Female	Yes	No	Sibling of 300100.1.1, 300100.1.2, and 300100.1.4
300100.1.4	Tunisia	; ;	Female	Yes	No	Sibling of 300100.1.1, 300100.1.2, and 300100.1.3
300100.1.5	Tunisia	; ;	Female	Yes	No	Mother of 300100.1.1, 300100.1.2, 300100.1.3 and 300100.1.4

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© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.