Joubert syndrome 14 (JBTS14)

Genetics

• autosomal recessive
• associated with defects in THEM237 (ALS2CR4)

Clinical manifestations

• see Joubert syndrome
• severe mental retardation
• hypotonia
• respiration abnormalities in infancy
• dysmorphic facial features
• variable features include
  • renal disease,
  • abnormal eye movements
  • postaxial polydactyly

Radiology

• neuroimaging
  • cerebellar vermian hypoplasia/aplasia
  • thickened & reoriented superior cerebellar peduncles
  • abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign)

More general terms

• Joubert syndrome

Database

• OMIM: https://mirror.omim.org/entry/614424