autosomal recessive spinocerebellar ataxia 12

An autosomal recessive cerebellar ataxia that is characterized by onset of generalized seizures in infancy, delayed psychomotor development with mental retardation, and cerebellar ataxia and that has_material_basis_in homozygous mutation in the WWOX gene on ch

An autosomal recessive cerebellar ataxia that is characterized by onset of generalized seizures in infancy, delayed psychomotor development with mental retardation, and cerebellar ataxia and that has_material_basis_in homozygous mutation in the WWOX gene on chromosome 16q23.

Signs and symptoms

• Hyporeflexia
• Bilateral tonic-clonic seizure
• Gaze-evoked nystagmus
• EEG abnormality
• Gait ataxia
• Dysarthria
• Global developmental delay
• Ataxia
• Spasticity
• Intellectual disability

Also known as: SCAR12