Conditions / Syndrome
Ritscher-Schinzel syndrome 1
info · Syndrome
A Ritscher-Schinzel syndrome that has_material_basis_in homozygous mutation in the KIAA0196 gene on chromosome 8q24.
Signs and symptoms
- Broad forehead
- Aortic valve stenosis
- Anal atresia
- Single umbilical artery
- Hypotonia
- Low posterior hairline
- Hypoplastic left ventricle
- Generalized hypotonia
- Ventricular septal defect
- Hemivertebrae