615398.2

Country

Saudi Arabia

HPO Terms

Polydactyly; Polycystic kidney dysplasia; Occipital encephalocele
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Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001077418.3:c.815A>C2NA

Remarks

Case 'MKS_F18' in the publication
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