| Metadata | |
|---|---|
| ID | DOID:0111613 |
| Name | autosomal recessive spinocerebellar ataxia 23 |
| 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 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency [EXACT] SCAR23 [EXACT] |
| Parent Relationships |