Chronic constipation, Coarse facial features, Cortical dysplasia, Cow milk allergy, Cryptorchidism, Delayed gross motor development, Depressed nasal bridge, Dilation of Virchow-Robin spaces, Drooling, Dysphagia, EEG abnormality, Elevated hepatic transaminase, Epileptic encephalopathy, Failure to thrive, Flat occiput, Focal cortical dysplasia, Focal-onset seizure, Frontal bossing, Gastroesophageal reflux, Generalized hypotonia, Generalized-onset seizure, Global developmental delay, Gluten intolerance, Hearing impairment, High anterior hairline, High-pitched cry, Hyperactivity, Hyperventilation, Hyporeflexia, Hypsarrhythmia, Impaired social interactions, Infantile muscular hypotonia, Infra-orbital crease, Intellectual disability, Intellectual disability, severe, Language impairment, Long philtrum, Macrocephaly, Mandibular prognathia, Motor stereotypy, Plagiocephaly, Pointed chin, Poor speech, Precocious puberty, Progressive language deterioration, Prominent glabella, Pulmonic stenosis, Reduced tendon reflexes, Scoliosis, Seizure, Self-injurious behavior, Severe global developmental delay, Sleep-wake cycle disturbance, Spasticity, Strabismus, Telecanthus, Thin upper lip vermilion, Tricuspid regurgitation, Ventricular septal defect

decreased vocalization, environmentally induced seizures, increased grooming behavior, nervous system phenotype, social withdrawal