620007.2.3

Country

Jordan

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_139278.4:c.991G>A1NA

Remarks

Father of 620007.2.1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
620007.2.1JordanGlobal developmental delay; Intellectual disability, mildMaleYesYesIndex patient from 'family 4' in the publication
620007.2.2JordanGlobal developmental delay; Intellectual disability, mildMaleYesYesBrother of 620007.2.1
620007.2.4JordanFemaleMother of 620007.2.1
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