231670.7.1

Country

Palestine

HPO Terms

Hypotonia; Dystonia; Tetraplegia;
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000159.4:c.877G>A2

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
231670.7.2PalestineTetraplegia; Lissencephaly;FemaleYesYesSister of 231670.7.1
231670.7.3PalestineAsymptomaticFemaleYesYesSister of 231670.7.1
231670.7.4PalestineMaleYesFather of 231670.7.1
231670.7.5PalestineFemaleYesMother of 231670.7.1
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