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615502.1
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Subject Details
Country
Lebanon
HPO Terms
Microcephaly; Autistic behavior; Delayed speech and language development; Intellectual disability; Motor delay; Short stature
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Sex
Male
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_006565.4:c.1670_1674delGTTCT
1
Mental Retardation, Autosomal Dominant 21
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References
Nair et al. 2018
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