Developmental Malformations
Aicardi-Goutieres syndrome
Mar. 22, 2024
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Toll Free (U.S. + Canada): 800-452-2400
US Number: +1-619-640-4660
Support: service@medlink.com
Editor: editor@medlink.com
ISSN: 2831-9125
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This girl with congenital blindness due to Leber amaurosis exhibits body-rocking stereotypy probably related to her blindness. She has wandering and frequent upward deviation of gaze, often seen in the blind. She describes a need to frequently clear her throat (throat-clearing stereotypy). (Contributed by Dr. Joseph Jankovic.)