617342.1.4

Country

Saudi Arabia

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001013663.2:c.365G>A1

Remarks

Father of 617342.1.1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
617342.1.1Saudi ArabiaIntellectual disability; Global developmental delay; Hypotonia; Hyperactivity; Absent speech; Abnormal facial shapeFemaleYesYes
617342.1.2Saudi ArabiaIntellectual disability; Hyperactivity; Abnormal facial shape; Global developmental delay; Delayed speech and language development; Bilateral tonic-clonic seizureMaleYesYesBrother of 617342.1.1
617342.1.3Saudi ArabiaIntellectual disability; Hyperactivity; Global developmental delay; Delayed speech and language development; Bilateral tonic-clonic seizureMaleYesYesBrother of 617342.1.1
617342.1.5Saudi ArabiaFemaleMother of 617342.1.1
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