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620791.1
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Subject Details
Country
Syria
HPO Terms
Intellectual disability, moderate; Hypotonia; Microcephaly; Short stature
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Sex
Male
Family History
No
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_024899.4:c.302T>C
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Remarks
Authors classified this gene variant as a "moderately confident" novel candidate for neurodevelopmental disorders.
References
Reuter et al. 2017
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