| Metadata | |
|---|---|
| ID | DOID:0080910 |
| Name | cerebrooculofacioskeletal syndrome |
| Definition | A Cockayne syndrome that is characterized by very severe prenatal developmental anomalies including microcephaly, congenital cataracts, severe mental retardation, facial dysmorphism, and arthrogryposis. https://www.ncbi.nlm.nih.gov/books/NBK1342/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Parent Relationships |
is_a Cockayne syndrome |