610542.2.1

Country

Saudi Arabia

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001244710.2:c.686-1G>A1

Remarks

Mother of 610542.2.G

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
610542.2.2Saudi ArabiaMaleFather of 610542.2.G
610542.2.GSaudi ArabiaMuscle weaknessUnknownYesThree siblings, all deceased. DNA was only available from parents
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