Pseudobulbar palsy, dysarthria, mental
retardation (85% of patients) and cognitive deficits, and seizures
(87% of patients) that are atypical and difficult to control by
medication (55% of patients). Infantile spasms in the first 6 months of
life are often the presenting seizure type. Hypotonia, hemiparesis, apneas.
Pharyngeal and masticatory muscle diplegia, especially tongue. Micrognathia,
arthrogryposis.