612840.1.1

United Arab Emirates

Abnormal bleeding; Recurrent infections; Leukocytosis; Lymphadenitis; Hepatosplenomegaly; Osteopetrosis; Intracranial hemorrhage

Male

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_031471.6:c.48G>A	2	NA	Leukocyte Adhesion Deficiency, Type III

'Subject 1' in the publication

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Remarks
612840.1.2	United Arab Emirates	Abnormal bleeding; Recurrent infections; Leukocytosis; Hepatosplenomegaly; Osteopetrosis; Intracranial hemorrhage	Female	No	'Subject 2' in the publication
612840.1.3	United Arab Emirates		Male		Father of 612840.1.1 & 612840.1.2
612840.1.4	United Arab Emirates		Female		Mother of 612840.1.1 & 612840.1.2