ataxia-oculomotor apraxia type 4

Term ID

DOID:0081383

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. https://pubmed.ncbi.nlm.nih.gov/25728773/

References

• GARD:13111
• OMIM:616267
• ORDO:459033

Ontology

Human Disease   ( DOID:0081383 )