cerebrooculofacioskeletal syndrome 1

Term ID

DOID:0080911

Synonyms

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/

References

• OMIM:214150

Ontology

Human Disease   ( DOID:0080911 )