Conditions / Genetic

autosomal dominant intellectual developmental disorder 64

info ยท Genetic

An autosomal dominant intellectual developmental disorder characterized by mildly to severely impaired intellectual development (ID) with speech delays that has_material_basis_in heterozygous mutation in the ZNF292 gene on chromosome 6q14.

Signs and symptoms

  • Global developmental delay
  • Delayed speech and language development
  • Autistic behavior
  • Intellectual disability
  • Micrognathia
  • Growth delay
  • Hypotonia
  • Attention deficit hyperactivity disorder
  • Hypertelorism
  • Feeding difficulties