Term Name: ataxia-oculomotor apraxia type 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 )

Relationships
is a type of: autosomal recessive cerebellar ataxia