Baraitser-Winter syndrome 1

Term ID

DOID:0081112

Synonyms

Definition

A Baraitser-Winter syndrome that has_material_basis_in heterozygous mutation in the ACTB gene on chromosome 7p22. A subset of patients have a larger deletion of chromosome 7p22 including the ACTB gene and additional variable genes, consistent with a contiguous gene deletion syndrome. https://pubmed.ncbi.nlm.nih.gov/29220674/

References

• OMIM:243310

Ontology

Human Disease   ( DOID:0081112 )