It is intended for informational purposes only and is not a substitute for medical advice, diagnosis, or treatment. Always consult your care team with specific questions.
SETD5 Syndrome is a rare genetic neurodevelopmental condition caused by a change (variant) in the SETD5 gene on chromosome 3. Research suggests that SETD5 may help regulate how other genes are switched on and off during development. When one copy does not function correctly, a range of developmental, behavioral, medical, and physical features have been observed in affected individuals. No two individuals are exactly alike. The condition affects each person differently, and severity varies widely.
- Intellectual disability (severity varies; some individuals are not affected)
- Global developmental delay
- Working memory difficulties
- Strengths in some areas, challenges in others
- Challenges with reading, writing, numeracy
- Speech and language delay
- Understanding language often stronger than speaking it
- Some minimally verbal or nonverbal
- Stuttering or difficulty pronouncing words clearly
- ADHD features (inattention, hyperactivity)
- Anxiety; difficulty with transitions
- Behavioral rigidity; preference for routine
- Autism spectrum features
- Repetitive movements or behaviors
- Sensory sensitivities
- Social communication challenges
- Difficulty with awareness of danger
- Described by some families as happy and sociable
- Low muscle tone (hypotonia)
- Gross and fine motor delays
- Coordination difficulties
- Epilepsy or seizures
- Sleep disturbances
- Feeding difficulties in infancy
- Growth concerns; short stature
- Eye or vision concerns
- Hearing impairment
- Congenital heart defect
- Bone, joint, or skeletal concerns
Most cases are de novo (a new mutation or deletion, not inherited from either parent). In some families, a parent carries the same variant and may pass it on. Inheritance and recurrence can vary by family. If neither parent carries the variant, recurrence risk is generally considered low. If a parent carries it, recurrence risk may be up to 50%. A genetic counselor can discuss factors specific to your family.
Website: setd5syndrome.com : family guides, handout builders, research summaries
SETD5 Syndrome Facebook Group : community support
Simons Searchlight : simonssearchlight.org — a research registry families can join to support SETD5 Syndrome research
NORD : rarediseases.org
Unique : rarechromo.org
OMIM : omim.org (entry #615743)
For informational purposes only. This page is not medical advice, diagnosis, or treatment guidance. Content is drawn from published research and the SETD5 Syndrome community. Research is ongoing; features listed reflect current literature as of 2026.