166200.1

Saudi Arabia

Osteopenia; Recurrent fractures

Female

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000088.4:c.1273G>A	1	NA	Osteogenesis Imperfecta, Type I

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
166200.2	Saudi Arabia	Osteopenia	Male		No	De novo mutation
166200.5	Saudi Arabia	Hypotonia; Microcephaly; Osteopenia; Abnormal facial shape; Failure to thrive	Female	Yes	Yes