Conditions / Genetic

autosomal dominant intellectual developmental disorder 59

info ยท Genetic

An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the CAMK2G gene on chromosome 10q22.

Signs and symptoms

  • Poor speech
  • Narrow forehead
  • Strabismus
  • Short foot
  • Short stature
  • Flat face
  • Severe intellectual disability
  • Long palpebral fissure
  • Highly arched eyebrow
  • Short palm