208250.3

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.3125_3128del	2		Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome

Patient 3 in the publication