/cerebrooculofacioskeletal syndrome 4

cerebrooculofacioskeletal syndrome 4

Rare Disease

MONDO:0012554

Also Known As

COFS syndrome caused by mutation in ERCC1COFS4ERCC1 COFS syndromecerebrooculofacioskeletal syndrome 4cerebrooculofacioskeletal syndrome type 4

Any COFS syndrome in which the cause of the disease is a mutation in the ERCC1 gene.

Comprehensive, easy-to-understand information about this condition

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Gene data from MyGene.info • Click to view on NCBI Gene

cerebrooculofacioskeletal syndrome 1

MONDO:0008955

xeroderma pigmentosum group G

MONDO:0010216

cerebrooculofacioskeletal syndrome 2

MONDO:0012553

cerebrooculofacioskeletal syndrome 3

MONDO:0014696