610181.2.G.1

Country

Arab

HPO Terms

Microcephaly; Global developmental delay; Intellectual disability; Spasticity; 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_001142279.2:c.356A>G	20		AicardiI-Goutieres Syndrome 2

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Remarks

Group of 10 unrelated Arab patients from a pool of patients from Libya, KSA, Qatar and UAE

References

Al Mutairi et al. 2018

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
610181.2.G.2	Arab	Microcephaly; Global developmental delay; Intellectual disability; Spasticity; Brain atrophy; Cerebral calcification; Abnormal cerebral white matter morphology; Seizure	Male			2 unrelated Arab patients