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615328.2
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Subject Details
Country
Saudi Arabia
HPO Terms
Microcephaly; Motor delay; Intellectual disability; Delayed speech and language development; Agenesis of corpus callosum; Brain atrophy; Muscle weakness
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Sex
Male
Family History
Yes
Parental Consanguinity
No
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_020751.3:c.1075-1G>T
2
Shaheen Syndrome
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References
Monies et al. 2017
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