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

Back to search Result

Sex

Unknown

Subject Variants

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

Download Table

References

Al-Shamsi et al. 2016

Related Subjects

Subject Id	Country	Sex	Remarks
610329.1.2	United Arab Emirates	Unknown	Sibling of 610329.1.1

Back to search Result

Country

HPO Terms

Sex

Subject Variants

Download Table

References

Related Subjects

© CAGS 2025. All rights reserved.

© CAGS 2025. All rights reserved.