610333.3.G

Country

Arab

HPO Terms

Microcephaly; Global developmental delay; Intellectual disability; Spasticity; Seizure; Brain atrophy; Cerebral calcification; Abnormal cerebral white matter morphology

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Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_006397.2:c.557G>A	10		Aicardi-Goutieres Syndrome 4

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Remarks

Group of 5 unrelated Arab patients from a larger pool of patients from Libya, Qatar, KSA, and UAE.

References

Al Mutairi et al. 2018