255800.1.2

Country

Tunisia

HPO Terms

Myotonia; Blepharophimosis; Short stature
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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_005529.7:c.8464+4A>G2

Remarks

Sister of 255800.1.1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
255800.1.1TunisiaMyotonia; Blepharophimosis; Short statureMaleYesYes
255800.1.3TunisiaMyotonia; Blepharophimosis; Short statureMaleYesYesBrother of 255800.1.1
255800.1.4TunisiaFemaleMoother of 255800.1.1
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