A Case of INPP5E-Related Joubert Syndrome: Connecting Evolving Phenotype With Novel Genotype

Pediatr Neurol. 2023 Aug:145:112-114. doi: 10.1016/j.pediatrneurol.2023.04.021. Epub 2023 May 2.
No abstract available

Keywords: Exotropia; Head bobbing; INPP5E; Joubert syndrome; Oculomotor apraxia.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple* / genetics
  • Cerebellum / abnormalities
  • Cerebellum / diagnostic imaging
  • Eye Abnormalities* / diagnosis
  • Eye Abnormalities* / genetics
  • Genotype
  • Humans
  • Kidney Diseases, Cystic* / genetics
  • Phenotype
  • Phosphoric Monoester Hydrolases / genetics
  • Phosphoric Monoester Hydrolases / metabolism
  • Retina / abnormalities
  • Retina / diagnostic imaging

Substances

  • phosphoinositide 5-phosphatase
  • Phosphoric Monoester Hydrolases

Supplementary concepts

  • Agenesis of Cerebellar Vermis