Conditions / Genetic

autosomal recessive intellectual developmental disorder 69

info ยท Genetic

An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ZBTB11 gene on chromosome 3q12.

Signs and symptoms

  • Moderate intellectual disability
  • Delayed speech and language development
  • Ataxia
  • Drooling
  • Spasticity
  • Delayed ability to walk
  • Microcephaly
  • Facial hypotonia
  • Dysarthria
  • Global developmental delay

Also known as: neurodevelopmental disorder with progressive movement abnormalities, cognitive decline, and brain abnormalities