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615297.1
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Subject Details
Country
Jordan
HPO Terms
Aplasia cutis congenita; Umbilical hernia; Delayed speech and language development
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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_173654.3:c.1074del
2
NA
Adams-Oliver Syndrome 4
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References
Maddirevula et al. 2018
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