255800.G.1

Country

Tunisia

HPO Terms

Myotonia; Blepharophimosis; Short stature
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Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_005529.6:c.4740G>A4+

Remarks

Family with unknown number of affected individuals
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