Conditions / Genetic
autosomal dominant intellectual developmental disorder 30
info · Genetic
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the ZMYND11 gene on chromosome 10p15.3.
Signs and symptoms
- Mild intellectual disability
- Motor delay
- Delayed speech and language development
- Hypotonia
- Reduced social responsiveness
- Global developmental delay
- Aggressive behavior
- Wide mouth
- Ptosis
- Overfolded helix
Also known as: MRD30; autosomal dominant mental retardation 30; autosomal dominant non-syndromic intellectual disability 30