204100.9

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Country

Saudi Arabia

HPO Terms

Visual impairment; Nystagmus; Eye poking
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Sex

Male

Family History

No

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000329.3:c.540C>A1
NM_000329.3:c.1067dup1
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References

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
204100.3Saudi ArabiaRetinal dystrophy; Global developmental delay; Abnormal facial shapeMaleNoYes
204100.4Saudi ArabiaRetinal dystrophyUnknownNo
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.