248500.4

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Country

United Arab Emirates

HPO Terms

Global developmental delay
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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000528.3:c.2356-2A>G2
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Remarks

Affected sister

References

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
248500.5United Arab EmiratesIntellectual disability; Global developmental delay; Hearing impairment; Abnormal facial shapeFemaleNoYes
248500.6United Arab EmiratesUnknown
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.