| Phenotype | Developmental delay, cerebral palsy, and seizure disorder. Communication delay, episodes of a sudden jerk, a startled/scared look and inappropriate interaction, events that suggest recurrent myoclonus that occur upon awakening or with movement or stimulus, hypotonia, some toe walking. Abnormal MRI (increased white matter signal), abnormal EEG in 01/02 (high amplitude activity in drowsiness and sleep with a paroxysmal appearance, normal EEG in 05/03, normal EMG and nerve conduction study. Dysmorphic facial features (slight epicanthal folds, medial eyebrow flaring, low nasal bridge and short philtrum). Negative for Angelman and Prader-Willi syndrome. |