Cerebrooculofacioskeletal syndrome 2

Any COFS syndrome in which the cause of the disease is a mutation in the ERCC2 gene.

Also known as: COFS syndrome caused by mutation in ERCC2, COFS2, ERCC2 COFS syndrome, cerebrooculofacioskeletal syndrome 2, cerebrooculofacioskeletal syndrome type 2

35 clinical trials for this condition and its sub-types.