Conditions / Genetic

autosomal recessive intellectual developmental disorder 27

info ยท Genetic

An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the LINS gene (LINS1) on chromosome 15q26.

Signs and symptoms

  • Microcephaly
  • Absent speech
  • Global developmental delay
  • Midface retrusion
  • Intellectual disability
  • Hypotonia
  • Depressed nasal bridge
  • Persistent head lag
  • Failure to thrive
  • Aggressive behavior