615066.G.3

Palestine

Recurrent fractures; Osteoporosis; Abnormality of limb bone morphology; Pseudoarthrosis; Wormian bones; Short stature

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_018112.3:c.454+279_543-5092delinsAATTAAGGTATA	20	NA	Osteogenesis Imperfecta, Type XIV

10 patients from three families.

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
615066.G.1	Palestine	Recurrent fractures; Delayed speech and language development	Female	Yes	Yes	Four related patients
615066.G.2	Palestine	Recurrent fractures		Yes	Yes	Four related patients