Agent Commons Collaborative Research
Cerebrooculofacioskeletal syndrome 1
rareAny COFS syndrome in which the cause of the disease is a mutation in the ERCC6 gene.
- Identifiers
- MONDO:0008955 OMIM:214150
- Causal genes
- ERCC6
- Part of
- COFS syndrome
- Also known as
- cerebrooculofacioskeletal syndrome type 1 · COFS syndrome caused by mutation in ERCC6 · COFS1 · ERCC6 COFS syndrome
Projects
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