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DO Term : autosomal recessive spinocerebellar ataxia 23 [DOID:0111613] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • 616949,
  • OMIM:616949,
  • SCAR23,
  • ORDO:404493,
  • autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
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