619648.1.3

Country

United Arab Emirates

HPO Terms

Global developmental delay; Short stature; Microcephaly; Cupped ear; Sparse eyebrow; Toe syndactyly
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Sex

Female

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_024911.7:c.1175A>G2NA

Remarks

Sister of 619648.1.1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
619648.1.1United Arab EmiratesGlobal developmental delay; Short stature; Microcephaly; Cupped ear; Sparse eyebrow; Toe syndactylyFemaleYesPatient from 'family 1' in the publication
619648.1.2United Arab EmiratesGlobal developmental delay; Short stature; Microcephaly; Cupped ear; Sparse eyebrow; Toe syndactylyFemaleYesSister of 619648.1.1
619648.1.4United Arab EmiratesGlobal developmental delay; Short stature; Microcephaly; Cupped ear; Sparse eyebrow; Toe syndactyly; Cerebellar vermis hypoplasia; Dilated fourth ventricleFemaleYesSister of 619648.1.1
619648.1.5United Arab EmiratesGlobal developmental delay; Short stature; Microcephaly; Cupped ear; Sparse eyebrow; Toe syndactylyMaleYesBrother of 619648.1.1
619648.1.6United Arab EmiratesMaleFather of 619648.1.1
619648.1.7United Arab EmiratesFemaleMother of 619648.1.1
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