610329.1.1

Country

United Arab Emirates

HPO Terms

Global developmental delay; Hypotonia; Opisthotonus; Microcephaly; Failure to thrive; Hyperintensity of cerebral white matter on MRI; Cerebral cortical atrophy

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Sex

Unknown

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_018249.6:c.412G>A	2
NM_032193.4:c.205C>T	2		Aicardi-Goutieres Syndrome 3

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References

Al-Shamsi et al. 2016

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
610329.1.2	United Arab Emirates		Unknown			Sibling of 610329.1.1

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Country

HPO Terms

Sex

Subject Variants

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References

Related Subjects

© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.