Conditions / Genetic

autosomal recessive intellectual developmental disorder 37

info ยท Genetic

An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ANK3 gene on chromosome 10q21.

Signs and symptoms

  • Moderate intellectual disability
  • Delayed speech and language development
  • Sleep disturbance
  • Hypotonia
  • Global developmental delay
  • Spasticity
  • Intellectual disability
  • Seizure
  • Bruxism
  • Generalized hypotonia