Conditions / Genetic
Helsmoortel-Van Der Aa Syndrome
info · Genetic
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the ADNP gene on chromosome 20q13.13.
Signs and symptoms
- Intellectual disability
- Advanced eruption of teeth
- Thin upper lip vermilion
- Prominent forehead
- Hypotonia
- Hyperactivity
- Visual impairment
- Smooth philtrum
- Autism
- High anterior hairline
Also known as: HVDAS; MRD28; autosomal dominant mental retardation 28