208250.G.1.1

United Arab Emirates

Camptodactyly; Flexion contracture of finger; Joint swelling; Pain; Coxa vara; Abnormality of femur morphology

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_005807.6:c.1320dup	8		Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome

4 patients from two branches of a consanguineous family

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
208250.G.1.2	United Arab Emirates			Yes	Yes	Unaffected family members of patients from 208250.G.1.1