cerebrooculofacioskeletal syndrome 4

Term ID

DOID:0080914

Synonyms

Definition

A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC1 gene on chromosome 19q13. https://pubmed.ncbi.nlm.nih.gov/23623389/

References

• MESH:C565184
• MIM:610758

Ontology

Human Disease   ( DOID:0080914 )