Conditions / Genetic

chromosome 15q24 deletion syndrome

info · Genetic · ICD-10: Q93.5

A chromosomal deletion syndrome that is characterized by dysmorphic facial features, intellectual disability and seizure, has_material_basis_in autosomal dominant inheritance of mutation in the SIN3A gene causing partial deletion of the long arm of chromosome

A chromosomal deletion syndrome that is characterized by dysmorphic facial features, intellectual disability and seizure, has_material_basis_in autosomal dominant inheritance of mutation in the SIN3A gene causing partial deletion of the long arm of chromosome 15.

Signs and symptoms

  • Strabismus
  • Unilateral cryptorchidism
  • Hyperactivity
  • Incoordination
  • Long philtrum
  • Aggressive behavior
  • Hypertelorism
  • Severe intellectual disability
  • Congenital diaphragmatic hernia
  • Wide nasal bridge

Also known as: 15q24 microdeletion syndrome