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607361.4.2
Home
Subject Details
Country
Palestine
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Sex
Male
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_153704.5:c.1065+1delG
1
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Remarks
Father of patient 607361.4.1
References
Khaddour et al. 2007
Related Subjects
Subject Id
Country
HPO Terms
Sex
Family History
Parental Consanguinity
Remarks
607361.4.1
Palestine
Renal cyst; Occipital encephalocele; Cleft palate; Cryptorchidism
Male
Yes
The proband had an affected sibling who had not underwent molecular testing; the affected sibling exhibited Dandy-Walker malformation and cystic kidneys.
607361.4.3
Palestine
Female
Mother of patient 607361.4.1
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