autosomal recessive spinocerebellar ataxia 23

Term ID

DOID:0111613

Synonyms

• autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
• SCAR23

Definition

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. https://www.ncbi.nlm.nih.gov/pubmed/24658003

References

• OMIM:616949
• ORDO:404493

Ontology

Human Disease   ( DOID:0111613 )