614465.9.1

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  2. Subject Details

Country

United Arab Emirates

HPO Terms

Persistent open anterior fontanelle; Nystagmus; Esotropia; Generalized hypotonia; Molar tooth sign on MRI; Cerebellar atrophy
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_016464.5:c.128+5G>A2
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Remarks

Has a similarly affected sister

References

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
614465.9.2United Arab EmiratesMaleFather of 614465.9.1
614465.9.3United Arab EmiratesFemaleMother of 614465.9.1
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.