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smith-magenis_syndrome [2022/03/03 22:07] – [Main Features] Scott Larsonsmith-magenis_syndrome [2025/06/14 02:11] (current) – Scott Larson
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     * [[https://www.ncbi.nlm.nih.gov/books/NBK1310/figure/sms.F2/?report=objectonly|School Age]]     * [[https://www.ncbi.nlm.nih.gov/books/NBK1310/figure/sms.F2/?report=objectonly|School Age]]
     * [[https://www.ncbi.nlm.nih.gov/books/NBK1310/figure/sms.F3/?report=objectonly|Adolescent]]     * [[https://www.ncbi.nlm.nih.gov/books/NBK1310/figure/sms.F3/?report=objectonly|Adolescent]]
 +
 +{{:Smith-Magenis_face.jpg}}
 +From 2. Ophthalmic Manifestations of Smith-Magenis Syndrome. Ophthalmology 1996
   * Developmental delay   * Developmental delay
   * Cognitive impairment   * Cognitive impairment
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   * Heterozygous deletion at chromosome 17p11.2 that includes RAI1 or a heterozygous intragenic RAI1 pathogenic variant.   * Heterozygous deletion at chromosome 17p11.2 that includes RAI1 or a heterozygous intragenic RAI1 pathogenic variant.
 ==== References ==== ==== References ====
-[[https://www.ncbi.nlm.nih.gov/books/NBK1310/|Gene Reviews]]\\ +  - [[https://www.ncbi.nlm.nih.gov/books/NBK1310/|Gene Reviews]]   
-{{:ophthalmic_manifestations_of_smith-magenis_syndrome_1996.pdf|Ophthalmic Manifestations of Smith-Magenis Syndrome. Ophthalmology 1996]]+  - [[https://1drv.ms/b/c/31d83ae8e55e0542/EbJgXrXrjRFHvvrIPijPUQ4BaVKWok9DbwnFjIdvwAgvew?e=ggHb8D|Chen RM. et al.  Ophthalmic Manifestations of Smith-Magenis Syndrome. Ophthalmology 1996;103:1084-1091]]
  
 {{tag>syndrome}} {{tag>syndrome}}