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Metadata
ID	DOID:0081383
PURL	http://purl.obolibrary.org/obo/DOID_0081383 Copy Copied!
Name	ataxia-oculomotor apraxia 4
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. https://pubmed.ncbi.nlm.nih.gov/25728773/
Xrefs	GARD:13111 MIM:616267 ORDO:459033
Subsets	DO_rare_slim
Parent Relationships	is_a autosomal recessive cerebellar ataxia