Conditions / Genetic

chromosome 6pter-p24 deletion syndrome

info · Genetic · ICD-10: Q93.5

A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6pter-p24 region.

Signs and symptoms

  • Hypertelorism
  • Global developmental delay
  • Delayed speech and language development
  • Motor delay
  • Opacification of the corneal stroma
  • Tented upper lip vermilion
  • Strabismus
  • Axenfeld anomaly
  • Hypotonia
  • Generalized hypotonia

Also known as: 6p subtelomeric deletion syndrome; 6p25 microdeletion syndrome; distal monosomy 6p