SYNGAP1-related intellectual disability

This code represents intellectual disability specifically caused by a mutation in the SYNGAP1 gene. Patients typically present with a range of neurodevelopmental symptoms, including moderate to severe intellectual disability, epilepsy, autism spectrum disorder features, and global developmental delay. It is a distinct genetic syndrome affecting brain development and function.

Use this code when documentation explicitly states a diagnosis of SYNGAP1-related intellectual disability, often confirmed by genetic testing. This code is appropriate for patients with a confirmed pathogenic variant in the SYNGAP1 gene and associated intellectual impairment. It should be used when the genetic etiology of the intellectual disability is known and specified.

• Ensure genetic testing results or a physician's definitive diagnosis of SYNGAP1-related intellectual disability are present in the medical record.
• Do not use this code for intellectual disability of unknown origin or other specified genetic causes; use more general or specific codes as appropriate.
• Sequence this code as the primary diagnosis when it is the main reason for the encounter, or as a secondary diagnosis when managing associated conditions like epilepsy or autism.