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 |