Conditions / Genetic
White-Sutton syndrome
info · Genetic
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the POGZ gene on chromosome 1q21.3.
Signs and symptoms
- Ventriculomegaly
- Cerebellar hypoplasia
- Delayed fine motor development
- Global developmental delay
- Intellectual disability
- Delayed speech and language development
- Delayed gross motor development
- Exaggerated cupid's bow
- Depressed nasal tip
- Hypertelorism
Also known as: MRD37; WHSUS; autosomal dominant mental retardation 37