226980.4.1

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Country

United Arab Emirates

HPO Terms

Neonatal insulin-dependent diabetes mellitus; Hepatic failure; Anemia; Death in childhood
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_004836.6:c.1293G>A2
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References

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
226980.4.2United Arab EmiratesNeonatal insulin-dependent diabetes mellitus; Hepatic failure; Anemia; Neutropenia; Skeletal dysplasiaFemaleYesYesSibling of 226980.4.1
226980.4.3United Arab EmiratesNeonatal insulin-dependent diabetes mellitus; Hepatic failure; Anemia; Neutropenia; Skeletal dysplasia; Death in childhoodMaleYesYesFirst cousin of 226980.4.1
226980.4.4United Arab EmiratesNeonatal insulin-dependent diabetes mellitus; Hepatic failure; Anemia; Neutropenia; Skeletal dysplasiaFemaleYesYesSecond cousin of 226980.4.1
226980.4.5United Arab EmiratesNeonatal insulin-dependent diabetes mellitus; Hepatic failure; Anemia; Neutropenia; Skeletal dysplasia; Death in childhoodMaleYesYesSecond cousin of 226980.4.1
226980.4.6United Arab EmiratesNeonatal insulin-dependent diabetes mellitus; Hepatic failure; Anemia; Neutropenia; Skeletal dysplasia; Death in infancyFemaleYesYesSecond cousin of 226980.4.1
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.