610915.2.1

Saudi Arabia

Multiple prenatal fractures; Recurrent infections; Hypochromic anemia; Blue sclerae

Female

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease
NM_022356.4:c.1839-2A>C	2	NA	Osteogenesis Imperfecta, Type VIII

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
610915.2.2	Saudi Arabia	Multiple prenatal fractures; Recurrent infections; Hypochromic anemia; Blue sclerae	Female	Yes	Yes	Relative of 610915.2.1