248500.5

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Country

United Arab Emirates

HPO Terms

Intellectual disability; Global developmental delay; Hearing impairment; Abnormal facial shape
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Sex

Female

Family History

No

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000528.3:c.1973G>A2
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References

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
248500.4United Arab EmiratesGlobal developmental delayFemaleYesYesAffected sister
248500.6United Arab EmiratesUnknown
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.