SYNCRIP
The information for this summary of SYNCRIP-related syndrome comes from research publications. This is not meant to take the place of medical advice.
Click here for our full SYNCRIP Gene Guide
The online Gene Guide includes more information about SYNCRIP such as the chance of having another child with this condition, behavior and development concerns linked to SYNCRIP-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
SYNCRIP-related syndrome is also called SYNCRIP related neurodevelopmental disorder (SYNCRIP-RNDD). For this webpage, we will be using the name SYNCRIP-related syndrome to encompass the wide range of variants observed in the people identified.
What is SYNCRIP-related syndrome?
SYNCRIP-related syndrome happens when there are changes in the SYNCRIP gene. These changes can keep the gene from working as it should.
Key Role
The SYNCRIP gene plays a key role in the development of the brain, heart, and eyes.
Symptoms
Because the SYNCRIP gene is important for brain activity, many people who have SYNCRIP-related syndrome have:
- Developmental delay, or intellectual disability, or both
- Autism spectrum disorder or features of autism
- Seizures
- Brain changes seen on magnetic resonance imaging (MRI)
- Low muscle tone, also called hypotonia
- Eye or vision issues
- Heart defects
- Behavioral issues, including attention-deficit/hyperactivity disorder (ADHD) and self-injury behavior
- Feeding issues
- Sensorineural hearing loss
- Genitourinary defects
- Gastrointestinal issues
How many people have SYNCRIP-related syndrome?
As of 2025, over 30 people with SYNCRIP-related syndrome have been identified in medical research.
Learn more about the SYNCRIP gene and connect with other Simons Searchlight families with the resources below:
Support Resources
- Simons Searchlight Community – SYNCRIP Facebook group
GeneReviews
GeneReviews are a great resource to bring to your child’s clinicians. These publications provide a summary of current research on genetic conditions and information on ongoing care.
There are currently no GeneReviews for SYNCRIP.
Research Article Summaries
We currently do not have any article summaries for SYNCRIP, but we add resources to our website as they become available.
The information available about SYNCRIP is limited, and families and doctors share a critical need for more information. As we learn more from children who have this gene change, we expect our list of resources and information to grow.
- Rauch A. et al. Lancet, 380, 1674-1682, (2012). Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: An exome sequencing study, pubmed.ncbi.nlm.nih.gov/23020937/.
- Lelieveld SH. et al. Nature Neuroscience, 19, 1194-1196, (2016). Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability, https://pubmed.ncbi.nlm.nih.gov/27479843/.
- Engwerda A. et al. European Journal of Human Genetics, 26, 1478-1489, (2018). The phenotypic spectrum of proximal 6q deletions based on a large cohort derived from social media and literature reports, www.ncbi.nlm.nih.gov/pmc/articles/PMC6138703/.
- Guo H. et al. Genetics in Medicine, 21, 1611-1620, (2019). Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes, www.ncbi.nlm.nih.gov/pmc/articles/PMC6546556/.
Full versions of published research articles can be found on PubMed. PubMed is a National Institutes of Health (NIH) online database that is free. It has a collection of both medical and scientific research articles. A PubMed search for SYNCRIP articles can be found here.
Research Opportunities
Simons Searchlight
Help the Simons Searchlight team learn more about SYNCRIP genetic changes by taking part in our research. You can learn more about the project and sign up here.
Family Stories
We do not currently have any stories from SYNCRIP families.
Click here to share your family’s story!