Additional Disease Briefs

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Rare Disease Database Reports Additional Rare Disease Briefs
cerebrooculofacioskeletal syndrome 1

Also known as: COFS syndrome, COFS syndrome caused by mutation in ERCC6, COFS1, ERCC6 COFS syndrome, Pena-Shokeir syndrome, type 2, cerebrooculofacioskeletal syndrome 1, cerebrooculofacioskeletal syndrome type 1

cerebrooculofacioskeletal syndrome 2

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

cerebrooculofacioskeletal syndrome 4

Also known as: COFS syndrome caused by mutation in ERCC1, COFS4, ERCC1 COFS syndrome, cerebrooculofacioskeletal syndrome 4, cerebrooculofacioskeletal syndrome type 4

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