272750.1.1

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Country

Saudi Arabia

HPO Terms

Global developmental delay; Hypotonia; Hyporeflexia; Seizure; Hyperacusis; Cherry red spot of the macula; Nystagmus; Hepatomegaly; Brain atrophy
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Sex

Female

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000405.5:c.262_264del2NA
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Remarks

'Patient A' from the publication

References

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
272750.1.2Saudi ArabiaMaleFather of 272750.1.1
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.