autosomal recessive spinocerebellar ataxia 13

info · Genetic

An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development beginning in infancy and that has_material_basis_in homozygous mutation in the GRM1 gene on chromosome 6q24.

Signs and symptoms

Strabismus
Inability to walk
Gaze-evoked nystagmus
Dysmetria
Cerebellar atrophy
Gait ataxia
Ataxia
Intellectual disability
Axial hypotonia
Delayed speech and language development

Also known as: SCAR13