146510.1.2

Country

Saudi Arabia

HPO Terms

Seizure; Polydactyly; High palate; Poor suck
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Sex

Male

Family History

Yes

Parental Consanguinity

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000168.6:c.2432-1G>A1NA

Remarks

Relative of 146510.1.1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
146510.1.1Saudi ArabiaSeizure; Polydactyly; High palate; Poor suckFemaleYesNo
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