Синдром умственной отсталости-моторной афазии-лицевого дисморфизма

Определение

A rare genetic syndromic intellectual disability characterized by moderate to severe intellectual deficiency, language deficit (completely absent or significantly impaired speech), and distinctive facial dysmorphism (long face, straight eyebrows, and, less frequently, low-set ears and cafÚ-au-lait spots). Additional, variably observed features include motor delays, behavioral difficulties, and seizures.