Conditions / Genetic

chromosome 15q25 deletion syndrome

info ยท Genetic

A chromosomal deletion syndrome that is characterized by intellectual disability and developmental delay, has_material_basis_in partial deletion of the long arm of chromosome 15.

Signs and symptoms

  • Global developmental delay
  • Cryptorchidism
  • Congenital diaphragmatic hernia
  • Abnormal cardiac septum morphology
  • Tented upper lip vermilion
  • Short stature
  • Hypertelorism
  • Long fingers
  • Hyperactivity
  • Myopathic facies