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607361.3
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Subject Details
Country
Morocco
HPO Terms
Polydactyly; Renal cyst; Microcephaly; Occipital encephalocele;
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Parental Consanguinity
No
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_153704.5:c.2439G>A
1
Meckel Syndrome, Type 3
NM_153704.5:c.1336G>C
1
Meckel Syndrome, Type 3
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Remarks
Patient is compound heterozygous for the reported variants
References
Khaddour et al. 2007
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