Conditions / Genetic
Vulto-van Silfout-de Vries syndrome
info · Genetic
An autosomal dominant intellectual developmental disorder characterized by delayed psychomotor development, poor expressive speech, and behavioral abnormalities that has_material_basis_in an autosomal dominant mutation of the DEAF1 gene on chromosome 11p15.5.
Signs and symptoms
- Motor delay
- Recurrent infections
- Intellectual disability
- Gait disturbance
- Global developmental delay
- Horizontal eyebrow
- Tented upper lip vermilion
- Pain insensitivity
- Reduced eye contact
- Aggressive behavior
Also known as: IDDISBAS; MRD24; VSVS; autosomal dominant mental retardation 24; autosomal dominant non-syndromic intellectual disability 24