CLINICAL CHARACTERISTICS: SYNCRIP-related neurodevelopmental disorder (SYNCRIP-NDD) is characterized by borderline-to-moderate developmental delay / intellectual disability, neurobehavioral/psychiatric manifestations (autism spectrum disorder, attention-deficit/hyperactivity disorder, and/or sleep disturbances), ocular and vision anomalies, and seizures. Hypotonia and movement disorders are also common. Hand and foot anomalies, kidney anomalies, and growth delay can also be present.
