614619.1.5

Country

Saudi Arabia

HPO Terms

Increased fetal movement; Abnormal muscle physiology; Myopic astigmatism; Esotropia
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000824.5:c.596T>G2NA

Remarks

'Patient 5' from 'Family 2' in the publication

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
614619.1.1Saudi ArabiaIncreased fetal movement; Abnormal muscle physiologyMaleYesYes'Patient 1' from 'Family 1' in the publication
614619.1.2Saudi ArabiaIncreased fetal movement; Abnormal muscle physiology; Strabismus; Myopic astigmatismFemaleYesYes'Patient 2' from 'Family 1' in the publication
614619.1.3Saudi ArabiaIncreased fetal movement; Abnormal muscle physiology; Myopic astigmatism; EsotropiaFemaleYesYes'Patient 3' from 'Family 1' in the publication
614619.1.4Saudi ArabiaIncreased fetal movement; Abnormal muscle physiology; Myopic astigmatism; EsotropiaFemaleYesYes'Patient 4' from 'Family 1' in the publication
614619.1.6Saudi ArabiaIncreased fetal movement; Abnormal muscle physiology; Esotropia; Global developmental delay; Behavioral abnormality; SeizureFemaleYesYes'Patient 6' from 'Family 2' in the publication
614619.1.7Saudi ArabiaIncreased fetal movement; Abnormal muscle physiology; Esotropia; Delayed speech and language development; Hyperopic astigmatism; Behavioral abnormalityFemaleYesYes'Patient 7' from 'Family 2' in the publication
614619.1.8Saudi ArabiaIncreased fetal movement; Abnormal muscle physiologyFemaleYesYes'Patient 8' from 'Family 2' in the publication
614619.1.9Saudi ArabiaIncreased fetal movement; Abnormal muscle physiology; EEG abnormality; Delayed speech and language development; Esotropia; Myopic astigmatism; Attention deficit hyperactivity disorderMaleYesYes'Patient 9' from 'Family 3' in the publication
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