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cerebrooculofacioskeletal syndrome 1
Summary
- Definition
- A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC6 gene on chromosome 10q11.
- Super Class
- cerebrooculofacioskeletal syndrome
External Links
- Disease Ontology
- DOID:0080911
- Mondo Disease Ontology
- OMIM
