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