226980.5

Country

Syria

HPO Terms

Diabetes mellitus; Hepatic failure; Pancytopenia; Skeletal dysplasia
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Sex

Male

Family History

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_004836.6:c.1952T>C2

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
226980.6SyriaNeonatal insulin-dependent diabetes mellitus; Chronic hepatitisMaleNo
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