204100.3

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Country

United Arab Emirates

HPO Terms

Retinal dystrophy; Global developmental delay; Abnormal facial shape
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Sex

Male

Family History

No

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000329.2:c.271C>T2
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References

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
204100.4United Arab EmiratesRetinal dystrophyUnknownNo
204100.9United Arab EmiratesVisual impairment; Nystagmus; Eye pokingMaleNoYes
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.