Smith-Kingsmore syndrome

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Smith-Kingsmore syndrome. This is caused by mutations in the MTOR gene. The transmission is autosomal dominant. Fully referenced neurology checklist.

Genetics

  • This is caused by mutations in the MTOR gene
  • The transmission is autosomal dominant

Facial features

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Neurological features

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Ocular features

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Synonym

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References

  1. Elizondo-Plazas A, Ibarra-Ramírez M, Garza-Báez A, Martínez-de-Villarreal LE. Expanding the phenotype of MTOR-related disorders and the Smith-Kingsmore syndrome. Neurol Genet 2020; 6:e432. 

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