Arima syndrome

Synonyms

13

Overview

A rare disorder characterized mainly by eye and brain abnormalities.

Symptoms

  • Absent reflexes
  • Reduced reflexes
  • Small jaw
  • Recessed jaw
  • Underdeveloped cerebellum
  • Aplasia/Hypoplasia of the cerebellum
  • Apnea
  • Cognitive impairment
  • Incoordination
  • Muscular hypotonia
  • Nephropathy
  • Ataxia
  • Cerebellar vermis hypoplasia
  • Intellectual disability
  • Molar tooth sign on MRI
  • Retinal dystrophy
  • Tachypnea

Resources

  • NIH