Conditions / Genetic

Clark-Baraitser syndrome

info ยท Genetic

An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the TRIP12 gene on chromosome 2q36.

Signs and symptoms

  • Intellectual disability
  • Global developmental delay
  • Delayed speech and language development
  • Motor delay
  • Autistic behavior
  • Narrow palpebral fissure
  • Upslanted palpebral fissure
  • Strabismus
  • Hypotonia
  • High palate

Also known as: Baraitser syndrome; CLABARS; autosomal dominant intellectual disability 49; autosomal dominant mental retardation 49