Conditions / Genetic
autosomal dominant intellectual developmental disorder 50
info ยท Genetic
An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the NAA15 gene on chromosome 4q31.
Signs and symptoms
- Intellectual disability
- Motor delay
- Autistic behavior
- Feeding difficulties
- Global developmental delay
- Seizure
- Delayed speech and language development
- Attention deficit hyperactivity disorder
- Motor stereotypy
Also known as: autosomal dominant intellectual developmental disorder-50 with behavioral abnormalities; autosomal dominant mental retardation 50