cerebrooculofacioskeletal syndrome
Information
- Disease name
- cerebrooculofacioskeletal syndrome
- Disease ID
- DOID:0080910
- Description
- "A Cockayne syndrome that is characterized by very severe prenatal developmental anomalies including microcephaly, congenital cataracts, severe mental retardation, facial dysmorphism, and arthrogryposis." [url:https\://www.ncbi.nlm.nih.gov/books/NBK1342/]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
- Disase is a (Disease Ontology)
- DOID:2962
- Cross Reference ID (Disease Ontology)
- GARD:6027
- Cross Reference ID (Disease Ontology)
- MIM:PS214150
- OMIM Phenotype Series Number (OMIM)
- PS214150