autosomal recessive spinocerebellar ataxia 23

An autosomal recessive cerebellar ataxia characterized by epilepsy, intellectual disability, and gait ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the TDP2 gene on chromosome 6p22.3.

Signs and symptoms

• Microcephaly
• Easy fatigability
• Seizure
• Ataxia
• Excessive daytime somnolence
• Hyponatremia
• Generalized hypotonia
• Arrhythmia
• Intellectual disability
• Decreased total neutrophil count

Also known as: SCAR23; autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency