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Summary Literature (0)
DOID:0081383 - ataxia-oculomotor apraxia type 4

Disease Ontology 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.

Synonyms:

Xenbase Genes : pnkp


MIM:
MIM:616267 - ATAXIA-OCULOMOTOR APRAXIA 4; AOA4

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive cerebellar ataxia (is_a)