Term Name: | cerebrooculofacioskeletal syndrome 4 |
---|---|
Synonyms: | |
Definition: | A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC1 gene on chromosome 19q13. |
Ontology: | Human Disease [DOID:0080914] ( DOID:0080914 ) |