Conditions / Genetic
autosomal dominant intellectual developmental disorder 42
info · Genetic
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the GNB1 gene on chromosome 1p36.33.
Signs and symptoms
- Intellectual disability
- Global developmental delay
- Hypotonia
- Seizure
- Growth delay
- Multifocal epileptiform discharges
- Strabismus
- Expressive language delay
- Feeding difficulties
- Limb hypertonia
Also known as: MRD42; autosomal dominant mental retardation 42; autosomal dominant non-syndromic intellectual disability 42