248800.1

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Country

Saudi Arabia

HPO Terms

Intellectual disability; Cerebellar vermis hypoplasia; Molar tooth sign on MRI; Global developmental delay
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Sex

Unknown

Family History

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_022464.5:c.1030-9G>A2
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References

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
248800.4Saudi ArabiaJuvenile cataractUnknownNo
248800.5Saudi ArabiaJuvenile cataractUnknownNo
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.