DLG4-related synaptopathy

This code identifies a rare neurodevelopmental disorder caused by pathogenic variants in the DLG4 gene, which encodes the postsynaptic density protein 95 (PSD-95). Patients typically present with a spectrum of neurological and developmental impairments, including intellectual disability, epilepsy, autism spectrum disorder, and motor deficits. The synaptopathy refers to the dysfunction of synapses due to the altered PSD-95 protein.

Assign this code when documentation explicitly states a diagnosis of DLG4-related synaptopathy, DLG4-related neurodevelopmental disorder, or a similar condition confirmed by genetic testing identifying a pathogenic DLG4 variant. This code is appropriate for patients exhibiting the characteristic clinical features linked to this genetic mutation.

• Ensure genetic testing results confirm a pathogenic DLG4 variant for accurate coding.
• Code any associated neurological manifestations (e.g., intellectual disability, epilepsy, autism) separately as secondary diagnoses.
• Do not confuse with other genetic synaptopathies; confirm the specific gene involved is DLG4.