619639.1.2

Country

Saudi Arabia

HPO Terms

Intellectual disability, severe; Poor speech; Attention deficit hyperactivity disorder; Hypotonia; Seizure
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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001204077.2:c.384G>A2NA

Remarks

Sister of 619639.1.1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
619639.1.1Saudi ArabiaIntellectual disability, severe; Poor speech; Loss of ambulation; Attention deficit hyperactivity disorder; Hypotonia; Lower limb spasticity; SeizureMaleYesYesPatient from 'family C' in Melo et al. 2021.
619639.1.3Saudi ArabiaMaleFather of 619639.1.1
619639.1.4Saudi ArabiaFemaleMother of 619639.1.1
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