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614219.3
Home
Subject Details
Country
Arab
HPO Terms
Aplasia cutis congenita; Depressed nasal bridge; Bulbous nose; Single transverse palmar crease
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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_020812.4:c.2520dup
2
NA
Adams-Oliver Syndrome 2
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References
Maddirevula et al. 2018;
Shaheen et al. 2013a
Related Subjects
Subject Id
Country
HPO Terms
Sex
Family History
Parental Consanguinity
Remarks
614219.1
Arab
Brachydactyly; Small nail
Female
Yes
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