208250.2

Saudi Arabia

Camptodactyly; Arthropathy; Abnormality of femur morphology; Osteoporosis; Coxa vara

Male

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_005807.6:c.923_924del	2		Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome

Patient 2 in the publication