193510.3

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Country

United Arab Emirates

HPO Terms

Bilateral sensorineural hearing impairment; Iris atrophy; Delayed speech and language development
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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NC_000003.12:g.69576082_70313620del1
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Remarks

Sister with hearing impairment

References

© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.