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Subject Details
Country
Arab
HPO Terms
Microcephaly; Occipital encephalocele; Pulmonary hypoplasia; Polycystic kidney dysplasia
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Sex
Male
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_153704.6:c.2306del
2
NA
Meckel Syndrome, Type 3
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References
Maddirevula et al. 2018
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