166200.3.1

Saudi Arabia

Osteopenia; Recurrent fractures; Tibial bowing; Bowing of the legs

Male

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000088.4:c.2127+2T>A	1	NA	Osteogenesis Imperfecta, Type I

Patient's parents are from the same tribe.

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
166200.3.2	Saudi Arabia	Osteopenia; Recurrent fractures; Tibial bowing; Bowing of the legs	Female	Yes		Relative of 166200.3.1. Patient's parents are from the same tribe.