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616784.2
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Subject Details
Country
Saudi Arabia
HPO Terms
Global developmental delay; Molar tooth sign on MRI; Aplasia cutis congenita; Cryptorchidism; Abnormal atrioventricular valve morphology; Postaxial polydactyly; Mild microcephaly
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Sex
Male
Family History
No
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_015202.5:c.1672C>T
2
Joubert Syndrome 26
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References
Maddirevula et al. 2019
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