autosomal recessive spinocerebellar ataxia 11

An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the SYT14 gene on chromosome 1q32.

Signs and symptoms

• Truncal ataxia
• Gait disturbance
• Cerebellar atrophy
• Dysarthria
• Global developmental delay
• Ataxia
• Limb ataxia
• Gaze-evoked horizontal nystagmus
• Impaired smooth pursuit
• Cerebellar vermis atrophy

Also known as: SCAR11