222448.3.1

Country

United Arab Emirates

HPO Terms

Hypertelorism; Abnormal facial shape; High myopia; Hearing impairment; Low-molecular-weight proteinuria; Eczema; Global developmental delay; Short stature; Hematuria; Renal tubular atrophy

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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_004525.3:c.7564T>C	2	NA	Donnai-Barrow Syndrome

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References

Charlton et al. 2020

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
222448.3.2	United Arab Emirates	Hypertelorism; Abnormal facial shape; High myopia; Hearing impairment; Low-molecular-weight proteinuria; Eczema; Global developmental delay; Short stature	Female	Yes	Yes	Sister of 222448.3.1
222448.3.3	United Arab Emirates		Male			Unaffected relative of 222448.3.1