Term Name: | cerebrooculofacioskeletal syndrome |
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Synonyms: | |
Definition: | A Cockayne syndrome that is characterized by very severe prenatal developmental anomalies including microcephaly, congenital cataracts, severe mental retardation, facial dysmorphism, and arthrogryposis. |
Ontology: | Human Disease [DOID:0080910] ( DOID:0080910 ) |