Normal prenatal and birth history, no major birth defects
Normal metabolic, hematologic, and chemical laboratory results
Severe developmental delay
Movement or balance disorder, usually ataxia of gait and/or tremulous movement of the limbs
Behavioral uniqueness: frequent laughter/smiling; apparent happy demeanor; excitability, often with hand-flapping movements; hypermotoric behavior; short attention span
Speech impairment: none or minimal use of words, non-verbal communication skills higher than verbal ones
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Delayed or disproportionately slow growth in head circumference: usually resulting in absolute or relative microcephaly by age 2 years
Epilepsy: usually starting before age 3 years
Abnormal electroencephalogram (EEG): a characteristic pattern of large-amplitude slow-spike waves
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Flat occiput;
Occipital groove;
Protruding tongue;
Tongue thrusting;
Suck/swallowing disorders;
Feeding problems and/or muscle hypotonia during infancy;
Prognathia;
Wide mouth, wide-spaced teeth;
Frequent drooling; excessive chewing/mouthing behaviors;
Strabismus.
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