| Term Name: | ataxia-oculomotor apraxia 4 |
|---|---|
| Synonyms: | |
| Definition: | An autosomal recessive cerebellar ataxia that is characterized by onset of dystonia and ataxia in the first decade and that has_material_basis_in homozygous or compound heterozygous mutation in the PNKP gene on chromosome 19q13. |
| Ontology: | Human Disease [DOID:0081383] ( DOID:0081383 ) |