Conditions / Genetic

autosomal dominant intellectual developmental disorder 44

info ยท Genetic

An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the TRIO gene on chromosome 5p15.2.

Signs and symptoms

  • Intellectual disability
  • Motor delay
  • Recurrent infections
  • Delayed speech and language development
  • Dental crowding
  • Fatigue
  • High forehead
  • Microcephaly
  • Dysphagia
  • Attention deficit hyperactivity disorder

Also known as: MRD44; autosomal dominant intellectual developmental disorder 44 with microcephaly; autosomal dominant mental retardation 44; autosomal dominant non-syndromic intellectual disability 44