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615583.1
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Subject Details
Country
Saudi Arabia
HPO Terms
Cleft lip; Abnormality of the vertebral column
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Sex
Male
Family History
Yes
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_078480.3:c.24+1G>C
2
Verheij Syndrome
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Remarks
Father is similarly affected
References
Monies et al. 2019
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