PhenomeGene — Human Disease Gene Website SeriesRXYLT1

Management

Management is supportive and requires a multidisciplinary approach:
•    Neurological care, including seizure control
•    Physical and occupational therapy
•    Respiratory monitoring and support, as required
•    Nutritional support, including feeding interventions
•    Ophthalmological evaluation and management
•    Regular developmental assessments

Surveillance involves regular monitoring for disease progression, complications, and supportive care needs.