612840.1.1

Country

United Arab Emirates

HPO Terms

Abnormal bleeding; Recurrent infections; Leukocytosis; Lymphadenitis; Hepatosplenomegaly; Osteopetrosis; Intracranial hemorrhage
Back to search Result
Sex

Male

Family History

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_031471.6:c.48G>A2NA

Remarks

'Subject 1' in the publication

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
612840.1.2United Arab EmiratesAbnormal bleeding; Recurrent infections; Leukocytosis; Hepatosplenomegaly; Osteopetrosis; Intracranial hemorrhageFemaleNo'Subject 2' in the publication
612840.1.3United Arab EmiratesMaleFather of 612840.1.1 & 612840.1.2
612840.1.4United Arab EmiratesFemaleMother of 612840.1.1 & 612840.1.2
Back to search Result
© CAGS 2022. All rights reserved.