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615476.1
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Subject Details
Country
Lebanon
HPO Terms
Ataxia; Hypotonia; Global developmental delay; Motor delay; Oligohydramnios; Delayed speech and language development; Intellectual disability; Blue irides
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Sex
Female
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_015284.4:c.7341-2G>A
2
Epileptic Encephalopathy, Early Infantile, 18
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References
Nair et al. 2018
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