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