HBRF

610688.3.2

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Country

United Arab Emirates
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Sex

Male

Subject Variants

Variant Name Allele Count Allele Frequency Associated Disease Associated Gene
NM_153704.5:c.725A>G 1
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Remarks

Father of 610688.3.1

References

Related Subjects

Subject Id Country HPO Terms Sex Family History Parental Consanguinity Remarks
610688.3.1 United Arab Emirates Blake's pouch cyst; Generalized hypotonia; Global developmental delay; Oculomotor apraxia; Chorioretinal coloboma Male Yes Yes Patient has a similarly affected older sister
610688.3.3 United Arab Emirates Female Mother of 610688.3.1
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.