619099.5.3

Country

Saudi Arabia

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_004713.6:c.1234_1235insC1NA

Remarks

Mother of 619099.5.1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
619099.5.1Saudi ArabiaIntellectual disability; Delayed speech and language development; Motor delay; Spondylolisthesis; Failure to thriveFemaleYesPatient from 'family 4' in the publication
619099.5.2Saudi ArabiaMaleFather of 619099.5.1
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