spinocerebellar ataxia, autosomal recessive 12 (SACR12)

Genetics

• 16q23.1-q23.2
• associated with mutations in WWOX

Clinical manifestations

• features of spinocerebellar ataxia
• features specific to SCAR12
  • onset of generalized seizures in infancy
  • delayed psychomotor development with mental retardation
  • some patients may also show spasticity

More general terms

• spinocerebellar ataxia, autosomal recessive

Database

• OMIM: https://mirror.omim.org/entry/614322