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617450.1
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Subject Details
Country
Saudi Arabia
HPO Terms
Global developmental delay; Seizure
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Sex
Female
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_003620.4:c.939_940del
2
Jansen-De Vries Syndrome
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References
Monies et al. 2019
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