autosomal recessive spinocerebellar ataxia 30

An autosomal recessive cerebellar ataxia characterized by childhood-onset global developmental delay with variably impaired intellectual development, motor dysfunction, and cerebellar ataxia that has_material_basis_in homozygous mutation in the PITRM1 gene on

An autosomal recessive cerebellar ataxia characterized by childhood-onset global developmental delay with variably impaired intellectual development, motor dysfunction, and cerebellar ataxia that has_material_basis_in homozygous mutation in the PITRM1 gene on chromosome 10p15.

Signs and symptoms

• Mild intellectual disability
• Global developmental delay
• Compulsive behaviors
• Dysmetria
• Ataxia
• Intellectual disability
• Cerebellar atrophy
• Psychotic episodes
• Cerebral atrophy
• Elevated circulating creatine kinase activity

Also known as: SCAR30