Joubert syndrome 3 (JBTS3)

Pathology

• brain congenital malformation involving
  • cerebellar vermis
  • brainstem
• abnormalities of axonal decussation affecting
  • corticospinal tract
  • superior cerebellar peduncles

Genetics

• autosomal recessive
• defects in AHI1 gene are the cause of Joubert syndrome 3

Clinical manifestations

• motor abnormalities
• behavioral abnormalities
• inability to walk due to
  • severe clumsiness
  • 'mirror' movements
• cognitive impairment
• behavioral disorder

More general terms

• Joubert syndrome

Database

• OMIM: https://mirror.omim.org/entry/608629