614235.1.6

Country

Oman

HPO Terms

Myopathy; Decreased facial expression
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Sex

Female

Family History

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_173791.5:c.2197_2200del1

Remarks

Mother of 614235.1.1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
614235.1.4OmanAutistic behaviorMaleYesYesSibling of 614235.1.1
614235.1.5OmanAutistic behavior; Myopathy; Decreased facial expressionMaleYesFather of 614235.1.1
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