610968.2.1

Saudi Arabia

Limb joint contracture; Osteopenia; Wormian bones; Fractures of the long bones

Male

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_021939.4:c.1016_1023dup	2	NA	Osteogenesis Imperfecta, Type XI

Patient's parents are from the same village.

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
610968.2.2	Saudi Arabia	Limb joint contracture; Osteopenia; Wormian bones; Fractures of the long bones	Male	Yes		Relative of 610968.2.1; patient's parents are from the same village.