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612284.1
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Subject Details
Country
Saudi Arabia
HPO Terms
Hydrocephalus; Occipital encephalocele; Polycystic kidney dysplasia; Stillbirth
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Sex
Female
Family History
Yes
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_001378615.1:c.3084del
2
NA
Meckel Syndrome, Type 6
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Remarks
Subject had an older stillbirth brother and a brother that died at 2 years of age with occipital encephalocele and polycystic kidneys. Family history includes several affected deceased paternal cousins
References
Maddirevula et al. 2018;
Shaheen et al. 2017;
Shaheen et al. 2015
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