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. 2021 Jun 28;12(7):987. doi: 10.3390/genes12070987

Table 1.

Clinical characteristics of Angelman syndrome (adapted from Williams et al. [30]).

Consistent (100%) Frequent (>80%) Associated (<80%)
  1. Normal prenatal and birth history, no major birth defects

  2. Normal metabolic, hematologic, and chemical laboratory results

  3. Severe developmental delay

  4. Movement or balance disorder, usually ataxia of gait and/or tremulous movement of the limbs

  5. Behavioral uniqueness: frequent laughter/smiling; apparent happy demeanor; excitability, often with hand-flapping movements; hypermotoric behavior; short attention span

  6. Speech impairment: none or minimal use of words, non-verbal communication skills higher than verbal ones

  1. Delayed or disproportionately slow growth in head circumference: usually resulting in absolute or relative microcephaly by age 2 years

  2. Epilepsy: usually starting before age 3 years

  3. Abnormal electroencephalogram (EEG): a characteristic pattern of large-amplitude slow-spike waves

  1. Flat occiput;

  2. Occipital groove;

  3. Protruding tongue;

  4. Tongue thrusting;

  5. Suck/swallowing disorders;

  6. Feeding problems and/or muscle hypotonia during infancy;

  7. Prognathia;

  8. Wide mouth, wide-spaced teeth;

  9. Frequent drooling; excessive chewing/mouthing behaviors;

  10. Strabismus.