[태그:] MECP2 variant

🎯 [Key Highlights: 3 Takeaways] 1. Patient Presentation 2. Phenotypic Features (HPO-based) 3. Differential Diagnosis (The “Why” for Genetic Testing) Before genetic confirmation, this patient’s symptoms often overlap with: 4. Clinical Insight & Diagnostic Bridge In cases of progressive neurodevelopmental regression, clinical observation alone often fails to distinguish between overlapping monogenic disorders. Early identification of…