Conditions / Genetic
Schuurs-Hoeijmakers Syndrome
info · Genetic
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PACS1 gene on chromosome 11q13.1-q13.2.
Signs and symptoms
- Cavum septum pellucidum
- Large hands
- Strabismus
- Single umbilical artery
- Seizure
- Volvulus
- Generalized hypotonia
- Nystagmus
- Smooth philtrum
- Aggressive behavior
Also known as: MRD17; SHMS; autosomal dominant mental retardation 17