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Don’t fight SYNGAP1-related non-syndromic intellectual disability alone.
Find your community on the free RareGuru App.SYNGAP1-related non-syndromic intellectual disability is a condition that primarily affects the central nervous system. It is characterized by moderate to severe intellectual disability that is usually apparent in the first few years of life. Some affected people may also experience seizures and/or autism spectrum disorder. This condition is caused by changes (mutations) in the SYNGAP1 gene. Almost all reported cases are due to de novo mutations; however, the condition can be passed down to future generations in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person.
Source: GARD Last updated on 05-01-20
5%-29% of people have these symptoms.
Click on a symptom to see definitions for associated terms.
| Epileptic encephalopathy |
| Abnormal thrombocyte morphology |
| Microcephaly |
| Torticollis |
1%-4% of people have these symptoms.
Click on a symptom to see definitions for associated terms.
| Cerebral hemorrhage |
| Seizures |
An unknown % of people have these symptoms.
Click on a symptom to see definitions for associated terms.
Unique is a source of information and support for families and individuals affected by rare chromosome disorders. Click on the link to view information about SYNGAP1-related non-syndromic intellectual disability.
Last updated on 04-27-20
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