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606609.1
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Subject Details
Country
Arab
HPO Terms
Microcephaly; Global developmental delay; Spasticity; Seizure; Abnormal cerebral white matter morphology; Brain atrophy; Cerebral calcification; Stillbirth
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Sex
Female
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_033629.6:c.341G>A
2
Aicardi-Goutieres Syndrome 1, Autosomal Dominant
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References
Al Mutairi et al. 2018
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