HBRF

610688.3.1

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Country

United Arab Emirates

HPO Terms

Blake's pouch cyst; Generalized hypotonia; Global developmental delay; Oculomotor apraxia; Chorioretinal coloboma
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant Name Allele Count Allele Frequency Associated Disease Associated Gene
NM_153704.5:c.725A>G 2
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Remarks

Patient has a similarly affected older sister

References

Related Subjects

Subject Id Country HPO Terms Sex Family History Parental Consanguinity Remarks
610688.3.2 United Arab Emirates Male Father of 610688.3.1
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.