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607417.G.1
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Subject Details
Country
Syria
HPO Terms
Intellectual disability, mild
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Family History
Yes
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_016302.4:c.835+1G>A
6
Intellectual Developmental Disorder, Autosomal Recessive 2
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Remarks
3 members of a family
References
Reuter et al. 2017
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