autosomal recessive spinocerebellar ataxia 18

An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development, severely impaired gait due to cerebellar ataxia, ocular movement abnormalities, and intellectual disability and that has_material_basis_in homozygous mutation in

An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development, severely impaired gait due to cerebellar ataxia, ocular movement abnormalities, and intellectual disability and that has_material_basis_in homozygous mutation in the GRID2 gene on chromosome 4q22.

Signs and symptoms

• Incoordination
• Truncal ataxia
• Delayed speech and language development
• Dysmetria
• Cerebellar atrophy
• Dysarthria
• Global developmental delay
• Ataxia
• Dysdiadochokinesis
• Nystagmus

Also known as: SCAR18