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614185.1
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Subject Details
Country
Palestine
HPO Terms
Short stature; Abnormal heart valve morphology; Anteverted nares; Round face
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Sex
Female
Parental Consanguinity
No
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000138.5:c.5096A>G
1
NA
Geleophysic Dysplasia 2
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Remarks
De novo mutation
References
Maddirevula et al. 2018
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