616632.1.6

Country

Saudi Arabia

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_005219.5:c.2332C>T1

Remarks

Father of 616632.1.1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
616632.1.1Saudi ArabiaSeizure; Microcephaly; Intellectual disability; Motor delay; Delayed speech and language development; Visual impairmentFemaleYesYesPatient had a sibling that passed away at 3 months due to congenital heart disease
616632.1.2Saudi ArabiaDeath in adolescence; Seizure; Microcephaly; Intellectual disability; Motor delay; Delayed speech and language development; Visual impairmentFemaleYesYesSibling of 616632.1.1
616632.1.3Saudi ArabiaDeath in adolescence; Seizure; Microcephaly; Intellectual disability; Motor delay; Delayed speech and language development; Visual impairmentFemaleYesYesSibling of 616632.1.1
616632.1.4Saudi ArabiaSeizure; Microcephaly; Intellectual disability; Motor delay; Delayed speech and language development; Visual impairmentMaleYesYesSibling of 616632.1.1
616632.1.5Saudi ArabiaSeizure; Microcephaly; Intellectual disability; Motor delay; Delayed speech and language development; Visual impairmentMaleYesYesSibling of 616632.1.1
616632.1.7Saudi ArabiaFemaleMother of 616632.1.1
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