Autistic behavior, Babinski sign, Behavioral abnormality, Bilateral tonic-clonic seizure, Brain atrophy, Broad nasal tip, Cerebral atrophy, Clinodactyly of the 2nd toe, Decreased fetal movement, Delayed eruption of teeth, Delayed speech and language development, Depressed nasal bridge, Developmental regression, Difficulty walking, Downslanted palpebral fissures, Drooling, Dyskinesia, EEG with multifocal slow activity, Encephalopathy, Facial palsy, Failure to thrive, Feeding difficulties, Gastroesophageal reflux, Generalized hypotonia, Generalized non-motor (absence) seizure, Global developmental delay, High forehead, Hyperactivity, Hypodontia, Hyporeflexia, Hypsarrhythmia, Impulsivity, Intellectual disability, Intellectual disability, moderate, Intellectual disability, profound, Intellectual disability, severe, Involuntary movements, Limb hypertonia, Long palpebral fissure, Long philtrum, Macrocephaly, Meckel diverticulum, Mental deterioration, Microcephaly, Midface retrusion, Mild neurosensory hearing impairment, Moderate sensorineural hearing impairment, Myoclonus, Nystagmus, Obesity, Optic atrophy, Periorbital fullness, Pes planus, Poor head control, Poor speech, Ptosis, Pyloric stenosis, Reduced tendon reflexes, Retinal degeneration, Rigidity, Seizure, Short stature, Shortening of all distal phalanges of the fingers, Small for gestational age, Spasticity, Status epilepticus, Thick lower lip vermilion, Thin upper lip vermilion, Tremor, Unsteady gait, Urinary incontinence, Widened subarachnoid space