613672.1.1

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Country

United Arab Emirates

HPO Terms

Global developmental delay; Developmental regression; Hypotonia; Short stature; Failure to thrive; Cerebellar atrophy
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Sex

Unknown

Family History

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_018109.3:c.1468G>T2
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Remarks

Has similarly affected siblings

References

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
613672.1.2United Arab EmiratesFemaleMother of 613672.1.1
613672.1.3United Arab EmiratesMaleFather of 613672.1.1
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.