Conditions / Syndrome
Baraitser-Winter syndrome 1
info · Syndrome
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
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.
Signs and symptoms
- Thin upper lip vermilion
- Aortic valve stenosis
- Epicanthus
- Long philtrum
- Anteverted nares
- Short stature
- Trigonocephaly
- Seizure
- Agenesis of corpus callosum
- Low posterior hairline