Conditions / Genetic

autosomal dominant intellectual developmental disorder 10

info ยท Genetic

An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CACNG2 gene on chromosome 22q12.3.

Signs and symptoms

  • Moderate intellectual disability
  • Seizure
  • Brain imaging abnormality

Also known as: MRD10; autosomal dominant mental retardation 10; autosomal dominant non-syndromic intellectual disability 10