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Metadata
ID DOID:0080911
Name cerebrooculofacioskeletal syndrome 1
Definition A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC6 gene on chromosome 10q11.
https://pubmed.ncbi.nlm.nih.gov/20456449/
Xrefs

MIM:214150

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is_a cerebrooculofacioskeletal syndrome

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