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608097.2
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Subject Details
Country
Saudi Arabia
HPO Terms
Global developmental delay; Seizure; Hydrocephalus; Aqueductal stenosis
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Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_006420.3:c.656dup
2
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
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References
Alazami et al. 2015
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