Term Name: | ataxia-oculomotor apraxia type 4 |
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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 ) |