249000.11

Country

Saudi Arabia

HPO Terms

Occipital encephalocele; Polycystic kidney dysplasia; Hand Polydactyly
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Sex

Male

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_017777.4:c.367C>T2NA

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
249000.7Saudi ArabiaPolycystic kidney dysplasia; Encephalocele; Postaxial polydactylyUnknown
249000.8Saudi ArabiaPolycystic kidney dysplasia; Encephalocele; Postaxial polydactylyUnknown
249000.10Saudi ArabiaOccipital encephalocele; Polycystic kidney dysplasia; Polydactyly; MicrocephalyFemaleYesYes
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