Behavioral abnormality, Brain atrophy, Broad forehead, Broad hallux, Broad nasal tip, Broad-based gait, Bulbous nose, Cerebral atrophy, Clinodactyly, Decreased fetal movement, Delayed speech and language development, Developmental regression, Diastema, Difficulty walking, Downslanted palpebral fissures, Dyskinesia, EEG with multifocal slow activity, Encephalopathy, Epicanthus, Failure to thrive, Feeding difficulties, Gastroesophageal reflux, Generalized hypotonia, Global brain atrophy, Global developmental delay, High forehead, Hypertelorism, Hypodontia, Hypoplasia of the corpus callosum, Hyporeflexia, Hypsarrhythmia, Impulsivity, Infantile spasms, Intellectual disability, Involuntary movements, Limb hypertonia, Mental deterioration, Microcephaly, Micrognathia, Myoclonus, Narrow mouth, Nystagmus, Optic atrophy, Overlapping toe, Pes planus, Poor head control, Prominent forehead, Prominent nose, Ptosis, Reduced tendon reflexes, Retinal degeneration, Rigidity, Sandal gap, Seizure, Short distal phalanx of finger, Short palpebral fissure, Short stature, Slender finger, Small hand, Small nail, Spasticity, Status epilepticus, Strabismus, Thin upper lip vermilion, Tremor, Unsteady gait, Upslanted palpebral fissure, Wide mouth