609180.2.1

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Country

United Arab Emirates

HPO Terms

Strabismus; Hypotonia; Psychomotor retardation; Seizure; Brain atrophy; Brachycephaly; Hypotelorism; Abnormal glucose-6-phosphate dehydrogenase level
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_004870.3:c.310G>A2
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References

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
609180.2.2United Arab EmiratesMaleFather of 609180.2.1
609180.2.3United Arab EmiratesFemaleMother of 609180.2.1
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.