HBRF

249000.8

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Country

Morocco

HPO Terms

Polycystic kidney dysplasia; Encephalocele; Postaxial polydactyly
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Sex

Unknown

Subject Variants

Variant Name Allele Count Allele Frequency Associated Disease Associated Gene
NM_017777.4:c.1273+11G>A 2
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References

Related Subjects

Subject Id Country HPO Terms Sex Family History Parental Consanguinity Remarks
249000.7 Morocco Polycystic kidney dysplasia; Encephalocele; Postaxial polydactyly Unknown
249000.10 Morocco Occipital encephalocele; Polycystic kidney dysplasia; Polydactyly; Microcephaly Female Yes Yes
249000.11 Morocco Occipital encephalocele; Polycystic kidney dysplasia; Hand Polydactyly Male Yes
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© CAGS 2024. All rights reserved.