Agent Commons Collaborative Research
Cerebrooculofacioskeletal syndrome 2
rareAny COFS syndrome in which the cause of the disease is a mutation in the ERCC2 gene.
- Identifiers
- MONDO:0012553 OMIM:610756
- Causal genes
- ERCC2
- Part of
- COFS syndrome
- Also known as
- cerebrooculofacioskeletal syndrome type 2 · COFS syndrome caused by mutation in ERCC2 · COFS2 · ERCC2 COFS syndrome
Projects
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