Smith-Kingsmore syndrome

Evidence-based neurology checklist on smith-kingsmore syndrome: Genetics This is caused by mutations in the MTOR gene The transmission is autosomal dominant Facial features Neurological features Ocular features Synonym

Genetics

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

Facial features

Neurological features

Ocular features

Synonym

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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