Broad-based gait, Cerebellar hypoplasia, Cerebral atrophy, Cerebral visual impairment, Chorea, Clinodactyly of the 5th finger, Cortical dysplasia, Cutis laxa, Delayed speech and language development, Depression, Dolichocephaly, Downslanted palpebral fissures, Dyskinesia, Dystonia, EEG with focal epileptiform discharges, EEG with generalized epileptiform discharges, Eclabion, Epicanthus, Epileptic spasm, Flat occiput, Focal-onset seizure, Frontal bossing, Generalized hypotonia, Generalized-onset seizure, Global developmental delay, Hyperactivity, Hypermetropia, Hypertelorism, Hypoplasia of the corpus callosum, Hypotonia, Hypsarrhythmia, Impulsivity, Infantile muscular hypotonia, Intellectual disability, Intellectual disability, mild, Intellectual disability, moderate, Intellectual disability, severe, Inverted nipples, Joint hypermobility, Large basal ganglia, Long eyebrows, Long eyelashes, Long face, Low-set ears, Macrotia, Malar flattening, Microcephaly, Motor delay, Motor stereotypy, Multifocal epileptiform discharges, Multiple cafe-au-lait spots, Nasogastric tube feeding, Obesity, Pectus carinatum, Periventricular heterotopia, Pointed chin, Polymicrogyria, Polyphagia, Poor speech, Prominent nose, Resting tremor, Seizure, Short attention span, Short chin, Short neck, Short philtrum, Sleep disturbance, Smooth philtrum, Sparse eyebrow, Spasticity, Thick vermilion border, Thin upper lip vermilion, Truncal obesity, Type II transferrin isoform profile, Underdeveloped nasolabial fold, Wide nasal bridge, Wide nose